Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.31206583T>A | CA412649348 | DMD | c.4494A>T (p.Arg1498Ser) c.444A>T (p.Arg148Ser) n.446A>T c.2268A>T (p.Arg756Ser) n.1165A>T n.747A>T n.1166A>T n.3140A>T c.1503A>T (p.Arg501Ser) c.9648A>T (p.Arg3216Ser) c.5616A>T (p.Arg1872Ser) c.321A>T (p.Arg107Ser) c.387A>T (p.Arg129Ser) n.578A>T c.1461A>T (p.Arg487Ser) c.2736A>T (p.Arg912Ser) c.9636A>T (p.Arg3212Ser) c.18A>T (p.Arg6Ser) c.9633A>T (p.Arg3211Ser) c.9645A>T (p.Arg3215Ser) c.9624A>T (p.Arg3208Ser) c.9279A>T (p.Arg3093Ser) c.5625A>T (p.Arg1875Ser) c.9519A>T (p.Arg3173Ser) c.9510A>T (p.Arg3170Ser) c.9525A>T (p.Arg3175Ser) c.3822A>T (p.Arg1274Ser) | |
X | g.31206583T>C | CA515857021 | DMD | c.4494A>G (p.Arg1498=) c.444A>G (p.Arg148=) n.446A>G c.2268A>G (p.Arg756=) n.1165A>G n.747A>G n.1166A>G n.3140A>G c.1503A>G (p.Arg501=) c.9648A>G (p.Arg3216=) c.5616A>G (p.Arg1872=) c.321A>G (p.Arg107=) c.387A>G (p.Arg129=) n.578A>G c.1461A>G (p.Arg487=) c.2736A>G (p.Arg912=) c.9636A>G (p.Arg3212=) c.18A>G (p.Arg6=) c.9633A>G (p.Arg3211=) c.9645A>G (p.Arg3215=) c.9624A>G (p.Arg3208=) c.9279A>G (p.Arg3093=) c.5625A>G (p.Arg1875=) c.9519A>G (p.Arg3173=) c.9510A>G (p.Arg3170=) c.9525A>G (p.Arg3175=) c.3822A>G (p.Arg1274=) | |
X | g.31206583T>G | CA412649349 | DMD | c.4494A>C (p.Arg1498Ser) c.444A>C (p.Arg148Ser) n.446A>C c.2268A>C (p.Arg756Ser) n.1165A>C n.747A>C n.1166A>C n.3140A>C c.1503A>C (p.Arg501Ser) c.9648A>C (p.Arg3216Ser) c.5616A>C (p.Arg1872Ser) c.321A>C (p.Arg107Ser) c.387A>C (p.Arg129Ser) n.578A>C c.1461A>C (p.Arg487Ser) c.2736A>C (p.Arg912Ser) c.9636A>C (p.Arg3212Ser) c.18A>C (p.Arg6Ser) c.9633A>C (p.Arg3211Ser) c.9645A>C (p.Arg3215Ser) c.9624A>C (p.Arg3208Ser) c.9279A>C (p.Arg3093Ser) c.5625A>C (p.Arg1875Ser) c.9519A>C (p.Arg3173Ser) c.9510A>C (p.Arg3170Ser) c.9525A>C (p.Arg3175Ser) c.3822A>C (p.Arg1274Ser) | |
X | g.31206584_31206585del | CA2573158732 | DMD | c.4493_4494del (p.Arg1498IlefsTer14) c.443_444del (p.Arg148IlefsTer14) n.445_446del c.2267_2268del (p.Arg756IlefsTer14) n.1164_1165del n.746_747del n.1165_1166del n.3139_3140del c.1502_1503del (p.Arg501IlefsTer14) c.9647_9648del (p.Arg3216IlefsTer14) c.5615_5616del (p.Arg1872IlefsTer14) c.320_321del (p.Arg107IlefsTer14) c.386_387del (p.Arg129IlefsTer14) n.577_578del c.1460_1461del (p.Arg487IlefsTer14) c.2735_2736del (p.Arg912IlefsTer14) c.9635_9636del (p.Arg3212IlefsTer14) c.17_18del (p.Arg6IlefsTer14) c.9632_9633del (p.Arg3211IlefsTer14) c.9644_9645del (p.Arg3215IlefsTer14) c.9623_9624del (p.Arg3208IlefsTer14) c.9278_9279del (p.Arg3093IlefsTer14) c.5624_5625del (p.Arg1875IlefsTer14) c.9518_9519del (p.Arg3173IlefsTer14) c.9509_9510del (p.Arg3170IlefsTer14) c.9524_9525del (p.Arg3175IlefsTer14) c.3821_3822del (p.Arg1274IlefsTer14) | ClinVar dbSNP |
X | g.31206584C>A | CA412649351 | DMD | c.4493G>T (p.Arg1498Ile) c.443G>T (p.Arg148Ile) n.445G>T c.2267G>T (p.Arg756Ile) n.1164G>T n.746G>T n.1165G>T n.3139G>T c.1502G>T (p.Arg501Ile) c.9647G>T (p.Arg3216Ile) c.5615G>T (p.Arg1872Ile) c.320G>T (p.Arg107Ile) c.386G>T (p.Arg129Ile) n.577G>T c.1460G>T (p.Arg487Ile) c.2735G>T (p.Arg912Ile) c.9635G>T (p.Arg3212Ile) c.17G>T (p.Arg6Ile) c.9632G>T (p.Arg3211Ile) c.9644G>T (p.Arg3215Ile) c.9623G>T (p.Arg3208Ile) c.9278G>T (p.Arg3093Ile) c.5624G>T (p.Arg1875Ile) c.9518G>T (p.Arg3173Ile) c.9509G>T (p.Arg3170Ile) c.9524G>T (p.Arg3175Ile) c.3821G>T (p.Arg1274Ile) | |
X | g.31206584C>G | CA412649353 | DMD | c.4493G>C (p.Arg1498Thr) c.443G>C (p.Arg148Thr) n.445G>C c.2267G>C (p.Arg756Thr) n.1164G>C n.746G>C n.1165G>C n.3139G>C c.1502G>C (p.Arg501Thr) c.9647G>C (p.Arg3216Thr) c.5615G>C (p.Arg1872Thr) c.320G>C (p.Arg107Thr) c.386G>C (p.Arg129Thr) n.577G>C c.1460G>C (p.Arg487Thr) c.2735G>C (p.Arg912Thr) c.9635G>C (p.Arg3212Thr) c.17G>C (p.Arg6Thr) c.9632G>C (p.Arg3211Thr) c.9644G>C (p.Arg3215Thr) c.9623G>C (p.Arg3208Thr) c.9278G>C (p.Arg3093Thr) c.5624G>C (p.Arg1875Thr) c.9518G>C (p.Arg3173Thr) c.9509G>C (p.Arg3170Thr) c.9524G>C (p.Arg3175Thr) c.3821G>C (p.Arg1274Thr) | |
X | g.31206584C>T | CA412649354 | DMD | c.4493G>A (p.Arg1498Lys) c.443G>A (p.Arg148Lys) n.445G>A c.2267G>A (p.Arg756Lys) n.1164G>A n.746G>A n.1165G>A n.3139G>A c.1502G>A (p.Arg501Lys) c.9647G>A (p.Arg3216Lys) c.5615G>A (p.Arg1872Lys) c.320G>A (p.Arg107Lys) c.386G>A (p.Arg129Lys) n.577G>A c.1460G>A (p.Arg487Lys) c.2735G>A (p.Arg912Lys) c.9635G>A (p.Arg3212Lys) c.17G>A (p.Arg6Lys) c.9632G>A (p.Arg3211Lys) c.9644G>A (p.Arg3215Lys) c.9623G>A (p.Arg3208Lys) c.9278G>A (p.Arg3093Lys) c.5624G>A (p.Arg1875Lys) c.9518G>A (p.Arg3173Lys) c.9509G>A (p.Arg3170Lys) c.9524G>A (p.Arg3175Lys) c.3821G>A (p.Arg1274Lys) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31206585T>A | CA412649355 | DMD | c.4492A>T (p.Arg1498Ter) c.442A>T (p.Arg148Ter) n.444A>T c.2266A>T (p.Arg756Ter) n.1163A>T n.745A>T n.1164A>T n.3138A>T c.1501A>T (p.Arg501Ter) c.9646A>T (p.Arg3216Ter) c.5614A>T (p.Arg1872Ter) c.319A>T (p.Arg107Ter) c.385A>T (p.Arg129Ter) n.576A>T c.1459A>T (p.Arg487Ter) c.2734A>T (p.Arg912Ter) c.9634A>T (p.Arg3212Ter) c.16A>T (p.Arg6Ter) c.9631A>T (p.Arg3211Ter) c.9643A>T (p.Arg3215Ter) c.9622A>T (p.Arg3208Ter) c.9277A>T (p.Arg3093Ter) c.5623A>T (p.Arg1875Ter) c.9517A>T (p.Arg3173Ter) c.9508A>T (p.Arg3170Ter) c.9523A>T (p.Arg3175Ter) c.3820A>T (p.Arg1274Ter) | |
X | g.31206585T>C | CA412649356 | DMD | c.4492A>G (p.Arg1498Gly) c.442A>G (p.Arg148Gly) n.444A>G c.2266A>G (p.Arg756Gly) n.1163A>G n.745A>G n.1164A>G n.3138A>G c.1501A>G (p.Arg501Gly) c.9646A>G (p.Arg3216Gly) c.5614A>G (p.Arg1872Gly) c.319A>G (p.Arg107Gly) c.385A>G (p.Arg129Gly) n.576A>G c.1459A>G (p.Arg487Gly) c.2734A>G (p.Arg912Gly) c.9634A>G (p.Arg3212Gly) c.16A>G (p.Arg6Gly) c.9631A>G (p.Arg3211Gly) c.9643A>G (p.Arg3215Gly) c.9622A>G (p.Arg3208Gly) c.9277A>G (p.Arg3093Gly) c.5623A>G (p.Arg1875Gly) c.9517A>G (p.Arg3173Gly) c.9508A>G (p.Arg3170Gly) c.9523A>G (p.Arg3175Gly) c.3820A>G (p.Arg1274Gly) | |
X | g.31206585T>G | CA515857022 | DMD | c.4492A>C (p.Arg1498=) c.442A>C (p.Arg148=) n.444A>C c.2266A>C (p.Arg756=) n.1163A>C n.745A>C n.1164A>C n.3138A>C c.1501A>C (p.Arg501=) c.9646A>C (p.Arg3216=) c.5614A>C (p.Arg1872=) c.319A>C (p.Arg107=) c.385A>C (p.Arg129=) n.576A>C c.1459A>C (p.Arg487=) c.2734A>C (p.Arg912=) c.9634A>C (p.Arg3212=) c.16A>C (p.Arg6=) c.9631A>C (p.Arg3211=) c.9643A>C (p.Arg3215=) c.9622A>C (p.Arg3208=) c.9277A>C (p.Arg3093=) c.5623A>C (p.Arg1875=) c.9517A>C (p.Arg3173=) c.9508A>C (p.Arg3170=) c.9523A>C (p.Arg3175=) c.3820A>C (p.Arg1274=) | |
X | g.31206586G>A | CA515857023 | DMD | c.4491C>T (p.Tyr1497=) c.441C>T (p.Tyr147=) n.443C>T c.2265C>T (p.Tyr755=) n.1162C>T n.744C>T n.1163C>T n.3137C>T c.1500C>T (p.Tyr500=) c.9645C>T (p.Tyr3215=) c.5613C>T (p.Tyr1871=) c.318C>T (p.Tyr106=) c.384C>T (p.Tyr128=) n.575C>T c.1458C>T (p.Tyr486=) c.2733C>T (p.Tyr911=) c.9633C>T (p.Tyr3211=) c.15C>T (p.Tyr5=) c.9630C>T (p.Tyr3210=) c.9642C>T (p.Tyr3214=) c.9621C>T (p.Tyr3207=) c.9276C>T (p.Tyr3092=) c.5622C>T (p.Tyr1874=) c.9516C>T (p.Tyr3172=) c.9507C>T (p.Tyr3169=) c.9522C>T (p.Tyr3174=) c.3819C>T (p.Tyr1273=) | |
X | g.31206586G>C | CA412649358 | DMD | c.4491C>G (p.Tyr1497Ter) c.441C>G (p.Tyr147Ter) n.443C>G c.2265C>G (p.Tyr755Ter) n.1162C>G n.744C>G n.1163C>G n.3137C>G c.1500C>G (p.Tyr500Ter) c.9645C>G (p.Tyr3215Ter) c.5613C>G (p.Tyr1871Ter) c.318C>G (p.Tyr106Ter) c.384C>G (p.Tyr128Ter) n.575C>G c.1458C>G (p.Tyr486Ter) c.2733C>G (p.Tyr911Ter) c.9633C>G (p.Tyr3211Ter) c.15C>G (p.Tyr5Ter) c.9630C>G (p.Tyr3210Ter) c.9642C>G (p.Tyr3214Ter) c.9621C>G (p.Tyr3207Ter) c.9276C>G (p.Tyr3092Ter) c.5622C>G (p.Tyr1874Ter) c.9516C>G (p.Tyr3172Ter) c.9507C>G (p.Tyr3169Ter) c.9522C>G (p.Tyr3174Ter) c.3819C>G (p.Tyr1273Ter) | ClinVar dbSNP |
X | g.31206586G>T | CA412649360 | DMD | c.4491C>A (p.Tyr1497Ter) c.441C>A (p.Tyr147Ter) n.443C>A c.2265C>A (p.Tyr755Ter) n.1162C>A n.744C>A n.1163C>A n.3137C>A c.1500C>A (p.Tyr500Ter) c.9645C>A (p.Tyr3215Ter) c.5613C>A (p.Tyr1871Ter) c.318C>A (p.Tyr106Ter) c.384C>A (p.Tyr128Ter) n.575C>A c.1458C>A (p.Tyr486Ter) c.2733C>A (p.Tyr911Ter) c.9633C>A (p.Tyr3211Ter) c.15C>A (p.Tyr5Ter) c.9630C>A (p.Tyr3210Ter) c.9642C>A (p.Tyr3214Ter) c.9621C>A (p.Tyr3207Ter) c.9276C>A (p.Tyr3092Ter) c.5622C>A (p.Tyr1874Ter) c.9516C>A (p.Tyr3172Ter) c.9507C>A (p.Tyr3169Ter) c.9522C>A (p.Tyr3174Ter) c.3819C>A (p.Tyr1273Ter) | dbSNP gnomAD v4 |
X | g.31206587T>A | CA412649364 | DMD | c.4490A>T (p.Tyr1497Phe) c.440A>T (p.Tyr147Phe) n.442A>T c.2264A>T (p.Tyr755Phe) n.1161A>T n.743A>T n.1162A>T n.3136A>T c.1499A>T (p.Tyr500Phe) c.9644A>T (p.Tyr3215Phe) c.5612A>T (p.Tyr1871Phe) c.317A>T (p.Tyr106Phe) c.383A>T (p.Tyr128Phe) n.574A>T c.1457A>T (p.Tyr486Phe) c.2732A>T (p.Tyr911Phe) c.9632A>T (p.Tyr3211Phe) c.14A>T (p.Tyr5Phe) c.9629A>T (p.Tyr3210Phe) c.9641A>T (p.Tyr3214Phe) c.9620A>T (p.Tyr3207Phe) c.9275A>T (p.Tyr3092Phe) c.5621A>T (p.Tyr1874Phe) c.9515A>T (p.Tyr3172Phe) c.9506A>T (p.Tyr3169Phe) c.9521A>T (p.Tyr3174Phe) c.3818A>T (p.Tyr1273Phe) | |
X | g.31206587T>C | CA412649365 | DMD | c.4490A>G (p.Tyr1497Cys) c.440A>G (p.Tyr147Cys) n.442A>G c.2264A>G (p.Tyr755Cys) n.1161A>G n.743A>G n.1162A>G n.3136A>G c.1499A>G (p.Tyr500Cys) c.9644A>G (p.Tyr3215Cys) c.5612A>G (p.Tyr1871Cys) c.317A>G (p.Tyr106Cys) c.383A>G (p.Tyr128Cys) n.574A>G c.1457A>G (p.Tyr486Cys) c.2732A>G (p.Tyr911Cys) c.9632A>G (p.Tyr3211Cys) c.14A>G (p.Tyr5Cys) c.9629A>G (p.Tyr3210Cys) c.9641A>G (p.Tyr3214Cys) c.9620A>G (p.Tyr3207Cys) c.9275A>G (p.Tyr3092Cys) c.5621A>G (p.Tyr1874Cys) c.9515A>G (p.Tyr3172Cys) c.9506A>G (p.Tyr3169Cys) c.9521A>G (p.Tyr3174Cys) c.3818A>G (p.Tyr1273Cys) | |
X | g.31206587T>G | CA412649367 | DMD | c.4490A>C (p.Tyr1497Ser) c.440A>C (p.Tyr147Ser) n.442A>C c.2264A>C (p.Tyr755Ser) n.1161A>C n.743A>C n.1162A>C n.3136A>C c.1499A>C (p.Tyr500Ser) c.9644A>C (p.Tyr3215Ser) c.5612A>C (p.Tyr1871Ser) c.317A>C (p.Tyr106Ser) c.383A>C (p.Tyr128Ser) n.574A>C c.1457A>C (p.Tyr486Ser) c.2732A>C (p.Tyr911Ser) c.9632A>C (p.Tyr3211Ser) c.14A>C (p.Tyr5Ser) c.9629A>C (p.Tyr3210Ser) c.9641A>C (p.Tyr3214Ser) c.9620A>C (p.Tyr3207Ser) c.9275A>C (p.Tyr3092Ser) c.5621A>C (p.Tyr1874Ser) c.9515A>C (p.Tyr3172Ser) c.9506A>C (p.Tyr3169Ser) c.9521A>C (p.Tyr3174Ser) c.3818A>C (p.Tyr1273Ser) | |
X | g.31206588A>C | CA412649370 | DMD | c.4489T>G (p.Tyr1497Asp) c.439T>G (p.Tyr147Asp) n.441T>G c.2263T>G (p.Tyr755Asp) n.1160T>G n.742T>G n.1161T>G n.3135T>G c.1498T>G (p.Tyr500Asp) c.9643T>G (p.Tyr3215Asp) c.5611T>G (p.Tyr1871Asp) c.316T>G (p.Tyr106Asp) c.382T>G (p.Tyr128Asp) n.573T>G c.1456T>G (p.Tyr486Asp) c.2731T>G (p.Tyr911Asp) c.9631T>G (p.Tyr3211Asp) c.13T>G (p.Tyr5Asp) c.9628T>G (p.Tyr3210Asp) c.9640T>G (p.Tyr3214Asp) c.9619T>G (p.Tyr3207Asp) c.9274T>G (p.Tyr3092Asp) c.5620T>G (p.Tyr1874Asp) c.9514T>G (p.Tyr3172Asp) c.9505T>G (p.Tyr3169Asp) c.9520T>G (p.Tyr3174Asp) c.3817T>G (p.Tyr1273Asp) | |
X | g.31206588A>G | CA412649372 | DMD | c.4489T>C (p.Tyr1497His) c.439T>C (p.Tyr147His) n.441T>C c.2263T>C (p.Tyr755His) n.1160T>C n.742T>C n.1161T>C n.3135T>C c.1498T>C (p.Tyr500His) c.9643T>C (p.Tyr3215His) c.5611T>C (p.Tyr1871His) c.316T>C (p.Tyr106His) c.382T>C (p.Tyr128His) n.573T>C c.1456T>C (p.Tyr486His) c.2731T>C (p.Tyr911His) c.9631T>C (p.Tyr3211His) c.13T>C (p.Tyr5His) c.9628T>C (p.Tyr3210His) c.9640T>C (p.Tyr3214His) c.9619T>C (p.Tyr3207His) c.9274T>C (p.Tyr3092His) c.5620T>C (p.Tyr1874His) c.9514T>C (p.Tyr3172His) c.9505T>C (p.Tyr3169His) c.9520T>C (p.Tyr3174His) c.3817T>C (p.Tyr1273His) | |
X | g.31206588A>T | CA412649368 | DMD | c.4489T>A (p.Tyr1497Asn) c.439T>A (p.Tyr147Asn) n.441T>A c.2263T>A (p.Tyr755Asn) n.1160T>A n.742T>A n.1161T>A n.3135T>A c.1498T>A (p.Tyr500Asn) c.9643T>A (p.Tyr3215Asn) c.5611T>A (p.Tyr1871Asn) c.316T>A (p.Tyr106Asn) c.382T>A (p.Tyr128Asn) n.573T>A c.1456T>A (p.Tyr486Asn) c.2731T>A (p.Tyr911Asn) c.9631T>A (p.Tyr3211Asn) c.13T>A (p.Tyr5Asn) c.9628T>A (p.Tyr3210Asn) c.9640T>A (p.Tyr3214Asn) c.9619T>A (p.Tyr3207Asn) c.9274T>A (p.Tyr3092Asn) c.5620T>A (p.Tyr1874Asn) c.9514T>A (p.Tyr3172Asn) c.9505T>A (p.Tyr3169Asn) c.9520T>A (p.Tyr3174Asn) c.3817T>A (p.Tyr1273Asn) | |
X | g.31206589C>A | CA412649373 | DMD | c.4488G>T (p.Lys1496Asn) c.438G>T (p.Lys146Asn) n.440G>T c.2262G>T (p.Lys754Asn) n.1159G>T n.741G>T n.1160G>T n.3134G>T c.1497G>T (p.Lys499Asn) c.9642G>T (p.Lys3214Asn) c.5610G>T (p.Lys1870Asn) c.315G>T (p.Lys105Asn) c.381G>T (p.Lys127Asn) n.572G>T c.1455G>T (p.Lys485Asn) c.2730G>T (p.Lys910Asn) c.9630G>T (p.Lys3210Asn) c.12G>T (p.Lys4Asn) c.9627G>T (p.Lys3209Asn) c.9639G>T (p.Lys3213Asn) c.9618G>T (p.Lys3206Asn) c.9273G>T (p.Lys3091Asn) c.5619G>T (p.Lys1873Asn) c.9513G>T (p.Lys3171Asn) c.9504G>T (p.Lys3168Asn) c.9519G>T (p.Lys3173Asn) c.3816G>T (p.Lys1272Asn) | |
X | g.31206589C= | CA2422348450 | DMD | c.4488G= (p.Lys1496=) c.438G= (p.Lys146=) n.440G= c.2262G= (p.Lys754=) n.1159G= n.741G= n.1160G= n.3134G= c.1497G= (p.Lys499=) c.9642G= (p.Lys3214=) c.5610G= (p.Lys1870=) c.315G= (p.Lys105=) c.381G= (p.Lys127=) n.572G= c.1455G= (p.Lys485=) c.2730G= (p.Lys910=) c.9630G= (p.Lys3210=) c.12G= (p.Lys4=) c.9627G= (p.Lys3209=) c.9639G= (p.Lys3213=) c.9618G= (p.Lys3206=) c.9273G= (p.Lys3091=) c.5619G= (p.Lys1873=) c.9513G= (p.Lys3171=) c.9504G= (p.Lys3168=) c.9519G= (p.Lys3173=) c.3816G= (p.Lys1272=) | |
X | g.31206589C>G | CA412649375 | DMD | c.4488G>C (p.Lys1496Asn) c.438G>C (p.Lys146Asn) n.440G>C c.2262G>C (p.Lys754Asn) n.1159G>C n.741G>C n.1160G>C n.3134G>C c.1497G>C (p.Lys499Asn) c.9642G>C (p.Lys3214Asn) c.5610G>C (p.Lys1870Asn) c.315G>C (p.Lys105Asn) c.381G>C (p.Lys127Asn) n.572G>C c.1455G>C (p.Lys485Asn) c.2730G>C (p.Lys910Asn) c.9630G>C (p.Lys3210Asn) c.12G>C (p.Lys4Asn) c.9627G>C (p.Lys3209Asn) c.9639G>C (p.Lys3213Asn) c.9618G>C (p.Lys3206Asn) c.9273G>C (p.Lys3091Asn) c.5619G>C (p.Lys1873Asn) c.9513G>C (p.Lys3171Asn) c.9504G>C (p.Lys3168Asn) c.9519G>C (p.Lys3173Asn) c.3816G>C (p.Lys1272Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31206589C>T | CA515857028 | DMD | c.4488G>A (p.Lys1496=) c.438G>A (p.Lys146=) n.440G>A c.2262G>A (p.Lys754=) n.1159G>A n.741G>A n.1160G>A n.3134G>A c.1497G>A (p.Lys499=) c.9642G>A (p.Lys3214=) c.5610G>A (p.Lys1870=) c.315G>A (p.Lys105=) c.381G>A (p.Lys127=) n.572G>A c.1455G>A (p.Lys485=) c.2730G>A (p.Lys910=) c.9630G>A (p.Lys3210=) c.12G>A (p.Lys4=) c.9627G>A (p.Lys3209=) c.9639G>A (p.Lys3213=) c.9618G>A (p.Lys3206=) c.9273G>A (p.Lys3091=) c.5619G>A (p.Lys1873=) c.9513G>A (p.Lys3171=) c.9504G>A (p.Lys3168=) c.9519G>A (p.Lys3173=) c.3816G>A (p.Lys1272=) | |
X | g.31206592_31206596del | CA2573158733 | DMD | c.4484_4488del (p.Asp1495ValfsTer16) c.434_438del (p.Asp145ValfsTer16) n.436_440del c.2258_2262del (p.Asp753ValfsTer16) n.1155_1159del n.737_741del n.1156_1160del n.3130_3134del c.1493_1497del (p.Asp498ValfsTer16) c.9638_9642del (p.Asp3213ValfsTer16) c.5606_5610del (p.Asp1869ValfsTer16) c.311_315del (p.Asp104ValfsTer16) c.377_381del (p.Asp126ValfsTer16) n.568_572del c.1451_1455del (p.Asp484ValfsTer16) c.2726_2730del (p.Asp909ValfsTer16) c.9626_9630del (p.Asp3209ValfsTer16) c.8_12del (p.Asp3ValfsTer16) c.9623_9627del (p.Asp3208ValfsTer16) c.9635_9639del (p.Asp3212ValfsTer16) c.9614_9618del (p.Asp3205ValfsTer16) c.9269_9273del (p.Asp3090ValfsTer16) c.5615_5619del (p.Asp1872ValfsTer16) c.9509_9513del (p.Asp3170ValfsTer16) c.9500_9504del (p.Asp3167ValfsTer16) c.9515_9519del (p.Asp3172ValfsTer16) c.3812_3816del (p.Asp1271ValfsTer16) | ClinVar dbSNP |
X | g.31206590T>A | CA412649377 | DMD | c.4487A>T (p.Lys1496Met) c.437A>T (p.Lys146Met) n.439A>T c.2261A>T (p.Lys754Met) n.1158A>T n.740A>T n.1159A>T n.3133A>T c.1496A>T (p.Lys499Met) c.9641A>T (p.Lys3214Met) c.5609A>T (p.Lys1870Met) c.314A>T (p.Lys105Met) c.380A>T (p.Lys127Met) n.571A>T c.1454A>T (p.Lys485Met) c.2729A>T (p.Lys910Met) c.9629A>T (p.Lys3210Met) c.11A>T (p.Lys4Met) c.9626A>T (p.Lys3209Met) c.9638A>T (p.Lys3213Met) c.9617A>T (p.Lys3206Met) c.9272A>T (p.Lys3091Met) c.5618A>T (p.Lys1873Met) c.9512A>T (p.Lys3171Met) c.9503A>T (p.Lys3168Met) c.9518A>T (p.Lys3173Met) c.3815A>T (p.Lys1272Met) | |
X | g.31206590T>C | CA412649379 | DMD | c.4487A>G (p.Lys1496Arg) c.437A>G (p.Lys146Arg) n.439A>G c.2261A>G (p.Lys754Arg) n.1158A>G n.740A>G n.1159A>G n.3133A>G c.1496A>G (p.Lys499Arg) c.9641A>G (p.Lys3214Arg) c.5609A>G (p.Lys1870Arg) c.314A>G (p.Lys105Arg) c.380A>G (p.Lys127Arg) n.571A>G c.1454A>G (p.Lys485Arg) c.2729A>G (p.Lys910Arg) c.9629A>G (p.Lys3210Arg) c.11A>G (p.Lys4Arg) c.9626A>G (p.Lys3209Arg) c.9638A>G (p.Lys3213Arg) c.9617A>G (p.Lys3206Arg) c.9272A>G (p.Lys3091Arg) c.5618A>G (p.Lys1873Arg) c.9512A>G (p.Lys3171Arg) c.9503A>G (p.Lys3168Arg) c.9518A>G (p.Lys3173Arg) c.3815A>G (p.Lys1272Arg) | dbSNP gnomAD v4 |
X | g.31206590T>G | CA412649380 | DMD | c.4487A>C (p.Lys1496Thr) c.437A>C (p.Lys146Thr) n.439A>C c.2261A>C (p.Lys754Thr) n.1158A>C n.740A>C n.1159A>C n.3133A>C c.1496A>C (p.Lys499Thr) c.9641A>C (p.Lys3214Thr) c.5609A>C (p.Lys1870Thr) c.314A>C (p.Lys105Thr) c.380A>C (p.Lys127Thr) n.571A>C c.1454A>C (p.Lys485Thr) c.2729A>C (p.Lys910Thr) c.9629A>C (p.Lys3210Thr) c.11A>C (p.Lys4Thr) c.9626A>C (p.Lys3209Thr) c.9638A>C (p.Lys3213Thr) c.9617A>C (p.Lys3206Thr) c.9272A>C (p.Lys3091Thr) c.5618A>C (p.Lys1873Thr) c.9512A>C (p.Lys3171Thr) c.9503A>C (p.Lys3168Thr) c.9518A>C (p.Lys3173Thr) c.3815A>C (p.Lys1272Thr) | |
X | g.31206590_31206591del | CA2695232304 | DMD | c.4486_4487del (p.Lys1496ValfsTer16) c.436_437del (p.Lys146ValfsTer16) n.438_439del c.2260_2261del (p.Lys754ValfsTer16) n.1157_1158del n.739_740del n.1158_1159del n.3132_3133del c.1495_1496del (p.Lys499ValfsTer16) c.9640_9641del (p.Lys3214ValfsTer16) c.5608_5609del (p.Lys1870ValfsTer16) c.313_314del (p.Lys105ValfsTer16) c.379_380del (p.Lys127ValfsTer16) n.570_571del c.1453_1454del (p.Lys485ValfsTer16) c.2728_2729del (p.Lys910ValfsTer16) c.9628_9629del (p.Lys3210ValfsTer16) c.10_11del (p.Lys4ValfsTer16) c.9625_9626del (p.Lys3209ValfsTer16) c.9637_9638del (p.Lys3213ValfsTer16) c.9616_9617del (p.Lys3206ValfsTer16) c.9271_9272del (p.Lys3091ValfsTer16) c.5617_5618del (p.Lys1873ValfsTer16) c.9511_9512del (p.Lys3171ValfsTer16) c.9502_9503del (p.Lys3168ValfsTer16) c.9517_9518del (p.Lys3173ValfsTer16) c.3814_3815del (p.Lys1272ValfsTer16) | |
X | g.31206591T>A | CA412649385 | DMD | c.4486A>T (p.Lys1496Ter) c.436A>T (p.Lys146Ter) n.438A>T c.2260A>T (p.Lys754Ter) n.1157A>T n.739A>T n.1158A>T n.3132A>T c.1495A>T (p.Lys499Ter) c.9640A>T (p.Lys3214Ter) c.5608A>T (p.Lys1870Ter) c.313A>T (p.Lys105Ter) c.379A>T (p.Lys127Ter) n.570A>T c.1453A>T (p.Lys485Ter) c.2728A>T (p.Lys910Ter) c.9628A>T (p.Lys3210Ter) c.10A>T (p.Lys4Ter) c.9625A>T (p.Lys3209Ter) c.9637A>T (p.Lys3213Ter) c.9616A>T (p.Lys3206Ter) c.9271A>T (p.Lys3091Ter) c.5617A>T (p.Lys1873Ter) c.9511A>T (p.Lys3171Ter) c.9502A>T (p.Lys3168Ter) c.9517A>T (p.Lys3173Ter) c.3814A>T (p.Lys1272Ter) | |
X | g.31206591T>C | CA412649382 | DMD | c.4486A>G (p.Lys1496Glu) c.436A>G (p.Lys146Glu) n.438A>G c.2260A>G (p.Lys754Glu) n.1157A>G n.739A>G n.1158A>G n.3132A>G c.1495A>G (p.Lys499Glu) c.9640A>G (p.Lys3214Glu) c.5608A>G (p.Lys1870Glu) c.313A>G (p.Lys105Glu) c.379A>G (p.Lys127Glu) n.570A>G c.1453A>G (p.Lys485Glu) c.2728A>G (p.Lys910Glu) c.9628A>G (p.Lys3210Glu) c.10A>G (p.Lys4Glu) c.9625A>G (p.Lys3209Glu) c.9637A>G (p.Lys3213Glu) c.9616A>G (p.Lys3206Glu) c.9271A>G (p.Lys3091Glu) c.5617A>G (p.Lys1873Glu) c.9511A>G (p.Lys3171Glu) c.9502A>G (p.Lys3168Glu) c.9517A>G (p.Lys3173Glu) c.3814A>G (p.Lys1272Glu) | gnomAD v4 |
X | g.31206591T>G | CA412649384 | DMD | c.4486A>C (p.Lys1496Gln) c.436A>C (p.Lys146Gln) n.438A>C c.2260A>C (p.Lys754Gln) n.1157A>C n.739A>C n.1158A>C n.3132A>C c.1495A>C (p.Lys499Gln) c.9640A>C (p.Lys3214Gln) c.5608A>C (p.Lys1870Gln) c.313A>C (p.Lys105Gln) c.379A>C (p.Lys127Gln) n.570A>C c.1453A>C (p.Lys485Gln) c.2728A>C (p.Lys910Gln) c.9628A>C (p.Lys3210Gln) c.10A>C (p.Lys4Gln) c.9625A>C (p.Lys3209Gln) c.9637A>C (p.Lys3213Gln) c.9616A>C (p.Lys3206Gln) c.9271A>C (p.Lys3091Gln) c.5617A>C (p.Lys1873Gln) c.9511A>C (p.Lys3171Gln) c.9502A>C (p.Lys3168Gln) c.9517A>C (p.Lys3173Gln) c.3814A>C (p.Lys1272Gln) | |
X | g.31206592G>A | CA515857030 | DMD | c.4485C>T (p.Asp1495=) c.435C>T (p.Asp145=) n.437C>T c.2259C>T (p.Asp753=) n.1156C>T n.738C>T n.1157C>T n.3131C>T c.1494C>T (p.Asp498=) c.9639C>T (p.Asp3213=) c.5607C>T (p.Asp1869=) c.312C>T (p.Asp104=) c.378C>T (p.Asp126=) n.569C>T c.1452C>T (p.Asp484=) c.2727C>T (p.Asp909=) c.9627C>T (p.Asp3209=) c.9C>T (p.Asp3=) c.9624C>T (p.Asp3208=) c.9636C>T (p.Asp3212=) c.9615C>T (p.Asp3205=) c.9270C>T (p.Asp3090=) c.5616C>T (p.Asp1872=) c.9510C>T (p.Asp3170=) c.9501C>T (p.Asp3167=) c.9516C>T (p.Asp3172=) c.3813C>T (p.Asp1271=) | |
X | g.31206592G>C | CA412649386 | DMD | c.4485C>G (p.Asp1495Glu) c.435C>G (p.Asp145Glu) n.437C>G c.2259C>G (p.Asp753Glu) n.1156C>G n.738C>G n.1157C>G n.3131C>G c.1494C>G (p.Asp498Glu) c.9639C>G (p.Asp3213Glu) c.5607C>G (p.Asp1869Glu) c.312C>G (p.Asp104Glu) c.378C>G (p.Asp126Glu) n.569C>G c.1452C>G (p.Asp484Glu) c.2727C>G (p.Asp909Glu) c.9627C>G (p.Asp3209Glu) c.9C>G (p.Asp3Glu) c.9624C>G (p.Asp3208Glu) c.9636C>G (p.Asp3212Glu) c.9615C>G (p.Asp3205Glu) c.9270C>G (p.Asp3090Glu) c.5616C>G (p.Asp1872Glu) c.9510C>G (p.Asp3170Glu) c.9501C>G (p.Asp3167Glu) c.9516C>G (p.Asp3172Glu) c.3813C>G (p.Asp1271Glu) | gnomAD v4 |
X | g.31206592G>T | CA412649387 | DMD | c.4485C>A (p.Asp1495Glu) c.435C>A (p.Asp145Glu) n.437C>A c.2259C>A (p.Asp753Glu) n.1156C>A n.738C>A n.1157C>A n.3131C>A c.1494C>A (p.Asp498Glu) c.9639C>A (p.Asp3213Glu) c.5607C>A (p.Asp1869Glu) c.312C>A (p.Asp104Glu) c.378C>A (p.Asp126Glu) n.569C>A c.1452C>A (p.Asp484Glu) c.2727C>A (p.Asp909Glu) c.9627C>A (p.Asp3209Glu) c.9C>A (p.Asp3Glu) c.9624C>A (p.Asp3208Glu) c.9636C>A (p.Asp3212Glu) c.9615C>A (p.Asp3205Glu) c.9270C>A (p.Asp3090Glu) c.5616C>A (p.Asp1872Glu) c.9510C>A (p.Asp3170Glu) c.9501C>A (p.Asp3167Glu) c.9516C>A (p.Asp3172Glu) c.3813C>A (p.Asp1271Glu) | |
X | g.31206593T>A | CA412649389 | DMD | c.4484A>T (p.Asp1495Val) c.434A>T (p.Asp145Val) n.436A>T c.2258A>T (p.Asp753Val) n.1155A>T n.737A>T n.1156A>T n.3130A>T c.1493A>T (p.Asp498Val) c.9638A>T (p.Asp3213Val) c.5606A>T (p.Asp1869Val) c.311A>T (p.Asp104Val) c.377A>T (p.Asp126Val) n.568A>T c.1451A>T (p.Asp484Val) c.2726A>T (p.Asp909Val) c.9626A>T (p.Asp3209Val) c.8A>T (p.Asp3Val) c.9623A>T (p.Asp3208Val) c.9635A>T (p.Asp3212Val) c.9614A>T (p.Asp3205Val) c.9269A>T (p.Asp3090Val) c.5615A>T (p.Asp1872Val) c.9509A>T (p.Asp3170Val) c.9500A>T (p.Asp3167Val) c.9515A>T (p.Asp3172Val) c.3812A>T (p.Asp1271Val) | |
X | g.31206593T>C | CA412649390 | DMD | c.4484A>G (p.Asp1495Gly) c.434A>G (p.Asp145Gly) n.436A>G c.2258A>G (p.Asp753Gly) n.1155A>G n.737A>G n.1156A>G n.3130A>G c.1493A>G (p.Asp498Gly) c.9638A>G (p.Asp3213Gly) c.5606A>G (p.Asp1869Gly) c.311A>G (p.Asp104Gly) c.377A>G (p.Asp126Gly) n.568A>G c.1451A>G (p.Asp484Gly) c.2726A>G (p.Asp909Gly) c.9626A>G (p.Asp3209Gly) c.8A>G (p.Asp3Gly) c.9623A>G (p.Asp3208Gly) c.9635A>G (p.Asp3212Gly) c.9614A>G (p.Asp3205Gly) c.9269A>G (p.Asp3090Gly) c.5615A>G (p.Asp1872Gly) c.9509A>G (p.Asp3170Gly) c.9500A>G (p.Asp3167Gly) c.9515A>G (p.Asp3172Gly) c.3812A>G (p.Asp1271Gly) | |
X | g.31206593T>G | CA412649391 | DMD | c.4484A>C (p.Asp1495Ala) c.434A>C (p.Asp145Ala) n.436A>C c.2258A>C (p.Asp753Ala) n.1155A>C n.737A>C n.1156A>C n.3130A>C c.1493A>C (p.Asp498Ala) c.9638A>C (p.Asp3213Ala) c.5606A>C (p.Asp1869Ala) c.311A>C (p.Asp104Ala) c.377A>C (p.Asp126Ala) n.568A>C c.1451A>C (p.Asp484Ala) c.2726A>C (p.Asp909Ala) c.9626A>C (p.Asp3209Ala) c.8A>C (p.Asp3Ala) c.9623A>C (p.Asp3208Ala) c.9635A>C (p.Asp3212Ala) c.9614A>C (p.Asp3205Ala) c.9269A>C (p.Asp3090Ala) c.5615A>C (p.Asp1872Ala) c.9509A>C (p.Asp3170Ala) c.9500A>C (p.Asp3167Ala) c.9515A>C (p.Asp3172Ala) c.3812A>C (p.Asp1271Ala) | |
X | g.31206594C>A | CA412649396 | DMD | c.4483G>T (p.Asp1495Tyr) c.433G>T (p.Asp145Tyr) n.435G>T c.2257G>T (p.Asp753Tyr) n.1154G>T n.736G>T n.1155G>T n.3129G>T c.1492G>T (p.Asp498Tyr) c.9637G>T (p.Asp3213Tyr) c.5605G>T (p.Asp1869Tyr) c.310G>T (p.Asp104Tyr) c.376G>T (p.Asp126Tyr) n.567G>T c.1450G>T (p.Asp484Tyr) c.2725G>T (p.Asp909Tyr) c.9625G>T (p.Asp3209Tyr) c.7G>T (p.Asp3Tyr) c.9622G>T (p.Asp3208Tyr) c.9634G>T (p.Asp3212Tyr) c.9613G>T (p.Asp3205Tyr) c.9268G>T (p.Asp3090Tyr) c.5614G>T (p.Asp1872Tyr) c.9508G>T (p.Asp3170Tyr) c.9499G>T (p.Asp3167Tyr) c.9514G>T (p.Asp3172Tyr) c.3811G>T (p.Asp1271Tyr) | |
X | g.31206594C>G | CA412649394 | DMD | c.4483G>C (p.Asp1495His) c.433G>C (p.Asp145His) n.435G>C c.2257G>C (p.Asp753His) n.1154G>C n.736G>C n.1155G>C n.3129G>C c.1492G>C (p.Asp498His) c.9637G>C (p.Asp3213His) c.5605G>C (p.Asp1869His) c.310G>C (p.Asp104His) c.376G>C (p.Asp126His) n.567G>C c.1450G>C (p.Asp484His) c.2725G>C (p.Asp909His) c.9625G>C (p.Asp3209His) c.7G>C (p.Asp3His) c.9622G>C (p.Asp3208His) c.9634G>C (p.Asp3212His) c.9613G>C (p.Asp3205His) c.9268G>C (p.Asp3090His) c.5614G>C (p.Asp1872His) c.9508G>C (p.Asp3170His) c.9499G>C (p.Asp3167His) c.9514G>C (p.Asp3172His) c.3811G>C (p.Asp1271His) | |
X | g.31206594C>T | CA412649393 | DMD | c.4483G>A (p.Asp1495Asn) c.433G>A (p.Asp145Asn) n.435G>A c.2257G>A (p.Asp753Asn) n.1154G>A n.736G>A n.1155G>A n.3129G>A c.1492G>A (p.Asp498Asn) c.9637G>A (p.Asp3213Asn) c.5605G>A (p.Asp1869Asn) c.310G>A (p.Asp104Asn) c.376G>A (p.Asp126Asn) n.567G>A c.1450G>A (p.Asp484Asn) c.2725G>A (p.Asp909Asn) c.9625G>A (p.Asp3209Asn) c.7G>A (p.Asp3Asn) c.9622G>A (p.Asp3208Asn) c.9634G>A (p.Asp3212Asn) c.9613G>A (p.Asp3205Asn) c.9268G>A (p.Asp3090Asn) c.5614G>A (p.Asp1872Asn) c.9508G>A (p.Asp3170Asn) c.9499G>A (p.Asp3167Asn) c.9514G>A (p.Asp3172Asn) c.3811G>A (p.Asp1271Asn) | |
X | g.31206595T>A | CA412649398 | DMD | c.4482A>T (p.Glu1494Asp) c.432A>T (p.Glu144Asp) n.434A>T c.2256A>T (p.Glu752Asp) n.1153A>T n.735A>T n.1154A>T n.3128A>T c.1491A>T (p.Glu497Asp) c.9636A>T (p.Glu3212Asp) c.5604A>T (p.Glu1868Asp) c.309A>T (p.Glu103Asp) c.375A>T (p.Glu125Asp) n.566A>T c.1449A>T (p.Glu483Asp) c.2724A>T (p.Glu908Asp) c.9624A>T (p.Glu3208Asp) c.6A>T (p.Glu2Asp) c.9621A>T (p.Glu3207Asp) c.9633A>T (p.Glu3211Asp) c.9612A>T (p.Glu3204Asp) c.9267A>T (p.Glu3089Asp) c.5613A>T (p.Glu1871Asp) c.9507A>T (p.Glu3169Asp) c.9498A>T (p.Glu3166Asp) c.9513A>T (p.Glu3171Asp) c.3810A>T (p.Glu1270Asp) | |
X | g.31206595T>C | CA328407914 | DMD | c.4482A>G (p.Glu1494=) c.432A>G (p.Glu144=) n.434A>G c.2256A>G (p.Glu752=) n.1153A>G n.735A>G n.1154A>G n.3128A>G c.1491A>G (p.Glu497=) c.9636A>G (p.Glu3212=) c.5604A>G (p.Glu1868=) c.309A>G (p.Glu103=) c.375A>G (p.Glu125=) n.566A>G c.1449A>G (p.Glu483=) c.2724A>G (p.Glu908=) c.9624A>G (p.Glu3208=) c.6A>G (p.Glu2=) c.9621A>G (p.Glu3207=) c.9633A>G (p.Glu3211=) c.9612A>G (p.Glu3204=) c.9267A>G (p.Glu3089=) c.5613A>G (p.Glu1871=) c.9507A>G (p.Glu3169=) c.9498A>G (p.Glu3166=) c.9513A>G (p.Glu3171=) c.3810A>G (p.Glu1270=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31206595T>G | CA412649399 | DMD | c.4482A>C (p.Glu1494Asp) c.432A>C (p.Glu144Asp) n.434A>C c.2256A>C (p.Glu752Asp) n.1153A>C n.735A>C n.1154A>C n.3128A>C c.1491A>C (p.Glu497Asp) c.9636A>C (p.Glu3212Asp) c.5604A>C (p.Glu1868Asp) c.309A>C (p.Glu103Asp) c.375A>C (p.Glu125Asp) n.566A>C c.1449A>C (p.Glu483Asp) c.2724A>C (p.Glu908Asp) c.9624A>C (p.Glu3208Asp) c.6A>C (p.Glu2Asp) c.9621A>C (p.Glu3207Asp) c.9633A>C (p.Glu3211Asp) c.9612A>C (p.Glu3204Asp) c.9267A>C (p.Glu3089Asp) c.5613A>C (p.Glu1871Asp) c.9507A>C (p.Glu3169Asp) c.9498A>C (p.Glu3166Asp) c.9513A>C (p.Glu3171Asp) c.3810A>C (p.Glu1270Asp) | |
X | g.31206595T= | CA2422348451 | DMD | c.4482A= (p.Glu1494=) c.432A= (p.Glu144=) n.434A= c.2256A= (p.Glu752=) n.1153A= n.735A= n.1154A= n.3128A= c.1491A= (p.Glu497=) c.9636A= (p.Glu3212=) c.5604A= (p.Glu1868=) c.309A= (p.Glu103=) c.375A= (p.Glu125=) n.566A= c.1449A= (p.Glu483=) c.2724A= (p.Glu908=) c.9624A= (p.Glu3208=) c.6A= (p.Glu2=) c.9621A= (p.Glu3207=) c.9633A= (p.Glu3211=) c.9612A= (p.Glu3204=) c.9267A= (p.Glu3089=) c.5613A= (p.Glu1871=) c.9507A= (p.Glu3169=) c.9498A= (p.Glu3166=) c.9513A= (p.Glu3171=) c.3810A= (p.Glu1270=) | |
X | g.31206596T>A | CA412649401 | DMD | c.4481A>T (p.Glu1494Val) c.431A>T (p.Glu144Val) n.433A>T c.2255A>T (p.Glu752Val) n.1152A>T n.734A>T n.1153A>T n.3127A>T c.1490A>T (p.Glu497Val) c.9635A>T (p.Glu3212Val) c.5603A>T (p.Glu1868Val) c.308A>T (p.Glu103Val) c.374A>T (p.Glu125Val) n.565A>T c.1448A>T (p.Glu483Val) c.2723A>T (p.Glu908Val) c.9623A>T (p.Glu3208Val) c.5A>T (p.Glu2Val) c.9620A>T (p.Glu3207Val) c.9632A>T (p.Glu3211Val) c.9611A>T (p.Glu3204Val) c.9266A>T (p.Glu3089Val) c.5612A>T (p.Glu1871Val) c.9506A>T (p.Glu3169Val) c.9497A>T (p.Glu3166Val) c.9512A>T (p.Glu3171Val) c.3809A>T (p.Glu1270Val) | |
X | g.31206596T>C | CA412649403 | DMD | c.4481A>G (p.Glu1494Gly) c.431A>G (p.Glu144Gly) n.433A>G c.2255A>G (p.Glu752Gly) n.1152A>G n.734A>G n.1153A>G n.3127A>G c.1490A>G (p.Glu497Gly) c.9635A>G (p.Glu3212Gly) c.5603A>G (p.Glu1868Gly) c.308A>G (p.Glu103Gly) c.374A>G (p.Glu125Gly) n.565A>G c.1448A>G (p.Glu483Gly) c.2723A>G (p.Glu908Gly) c.9623A>G (p.Glu3208Gly) c.5A>G (p.Glu2Gly) c.9620A>G (p.Glu3207Gly) c.9632A>G (p.Glu3211Gly) c.9611A>G (p.Glu3204Gly) c.9266A>G (p.Glu3089Gly) c.5612A>G (p.Glu1871Gly) c.9506A>G (p.Glu3169Gly) c.9497A>G (p.Glu3166Gly) c.9512A>G (p.Glu3171Gly) c.3809A>G (p.Glu1270Gly) | |
X | g.31206596T>G | CA412649402 | DMD | c.4481A>C (p.Glu1494Ala) c.431A>C (p.Glu144Ala) n.433A>C c.2255A>C (p.Glu752Ala) n.1152A>C n.734A>C n.1153A>C n.3127A>C c.1490A>C (p.Glu497Ala) c.9635A>C (p.Glu3212Ala) c.5603A>C (p.Glu1868Ala) c.308A>C (p.Glu103Ala) c.374A>C (p.Glu125Ala) n.565A>C c.1448A>C (p.Glu483Ala) c.2723A>C (p.Glu908Ala) c.9623A>C (p.Glu3208Ala) c.5A>C (p.Glu2Ala) c.9620A>C (p.Glu3207Ala) c.9632A>C (p.Glu3211Ala) c.9611A>C (p.Glu3204Ala) c.9266A>C (p.Glu3089Ala) c.5612A>C (p.Glu1871Ala) c.9506A>C (p.Glu3169Ala) c.9497A>C (p.Glu3166Ala) c.9512A>C (p.Glu3171Ala) c.3809A>C (p.Glu1270Ala) | |
X | g.31206597C>A | CA412649406 | DMD | c.4480G>T (p.Glu1494Ter) c.430G>T (p.Glu144Ter) n.432G>T c.2254G>T (p.Glu752Ter) n.1151G>T n.733G>T n.1152G>T n.3126G>T c.1489G>T (p.Glu497Ter) c.9634G>T (p.Glu3212Ter) c.5602G>T (p.Glu1868Ter) c.307G>T (p.Glu103Ter) c.373G>T (p.Glu125Ter) n.564G>T c.1447G>T (p.Glu483Ter) c.2722G>T (p.Glu908Ter) c.9622G>T (p.Glu3208Ter) c.4G>T (p.Glu2Ter) c.9619G>T (p.Glu3207Ter) c.9631G>T (p.Glu3211Ter) c.9610G>T (p.Glu3204Ter) c.9265G>T (p.Glu3089Ter) c.5611G>T (p.Glu1871Ter) c.9505G>T (p.Glu3169Ter) c.9496G>T (p.Glu3166Ter) c.9511G>T (p.Glu3171Ter) c.3808G>T (p.Glu1270Ter) | ClinVar dbSNP |
X | g.31206597C= | CA2422348452 | DMD | c.4480G= (p.Glu1494=) c.430G= (p.Glu144=) n.432G= c.2254G= (p.Glu752=) n.1151G= n.733G= n.1152G= n.3126G= c.1489G= (p.Glu497=) c.9634G= (p.Glu3212=) c.5602G= (p.Glu1868=) c.307G= (p.Glu103=) c.373G= (p.Glu125=) n.564G= c.1447G= (p.Glu483=) c.2722G= (p.Glu908=) c.9622G= (p.Glu3208=) c.4G= (p.Glu2=) c.9619G= (p.Glu3207=) c.9631G= (p.Glu3211=) c.9610G= (p.Glu3204=) c.9265G= (p.Glu3089=) c.5611G= (p.Glu1871=) c.9505G= (p.Glu3169=) c.9496G= (p.Glu3166=) c.9511G= (p.Glu3171=) c.3808G= (p.Glu1270=) | |
X | g.31206597C>G | CA412649408 | DMD | c.4480G>C (p.Glu1494Gln) c.430G>C (p.Glu144Gln) n.432G>C c.2254G>C (p.Glu752Gln) n.1151G>C n.733G>C n.1152G>C n.3126G>C c.1489G>C (p.Glu497Gln) c.9634G>C (p.Glu3212Gln) c.5602G>C (p.Glu1868Gln) c.307G>C (p.Glu103Gln) c.373G>C (p.Glu125Gln) n.564G>C c.1447G>C (p.Glu483Gln) c.2722G>C (p.Glu908Gln) c.9622G>C (p.Glu3208Gln) c.4G>C (p.Glu2Gln) c.9619G>C (p.Glu3207Gln) c.9631G>C (p.Glu3211Gln) c.9610G>C (p.Glu3204Gln) c.9265G>C (p.Glu3089Gln) c.5611G>C (p.Glu1871Gln) c.9505G>C (p.Glu3169Gln) c.9496G>C (p.Glu3166Gln) c.9511G>C (p.Glu3171Gln) c.3808G>C (p.Glu1270Gln) | |
X | g.31206597C>T | CA412649407 | DMD | c.4480G>A (p.Glu1494Lys) c.430G>A (p.Glu144Lys) n.432G>A c.2254G>A (p.Glu752Lys) n.1151G>A n.733G>A n.1152G>A n.3126G>A c.1489G>A (p.Glu497Lys) c.9634G>A (p.Glu3212Lys) c.5602G>A (p.Glu1868Lys) c.307G>A (p.Glu103Lys) c.373G>A (p.Glu125Lys) n.564G>A c.1447G>A (p.Glu483Lys) c.2722G>A (p.Glu908Lys) c.9622G>A (p.Glu3208Lys) c.4G>A (p.Glu2Lys) c.9619G>A (p.Glu3207Lys) c.9631G>A (p.Glu3211Lys) c.9610G>A (p.Glu3204Lys) c.9265G>A (p.Glu3089Lys) c.5611G>A (p.Glu1871Lys) c.9505G>A (p.Glu3169Lys) c.9496G>A (p.Glu3166Lys) c.9511G>A (p.Glu3171Lys) c.3808G>A (p.Glu1270Lys) | |
X | g.31206598del | CA2580100564 | DMD | c.4480del (p.Glu1494LysfsTer?) c.430del (p.Glu144LysfsTer?) n.432del c.2254del (p.Glu752LysfsTer?) n.1151del n.733del n.1152del n.3126del c.1489del (p.Glu497LysfsTer?) c.9634del (p.Glu3212LysfsTer?) c.5602del (p.Glu1868LysfsTer?) c.307del (p.Glu103LysfsTer?) c.373del (p.Glu125LysfsTer?) n.564del c.1447del (p.Glu483LysfsTer?) c.2722del (p.Glu908LysfsTer?) c.9622del (p.Glu3208LysfsTer?) c.4del (p.Glu2LysfsTer?) c.9619del (p.Glu3207LysfsTer?) c.9631del (p.Glu3211LysfsTer?) c.9610del (p.Glu3204LysfsTer?) c.9265del (p.Glu3089LysfsTer?) c.5611del (p.Glu1871LysfsTer?) c.9505del (p.Glu3169LysfsTer?) c.9496del (p.Glu3166LysfsTer?) c.9511del (p.Glu3171LysfsTer?) c.3808del (p.Glu1270LysfsTer?) | ClinVar |
X | g.31206598C>A | CA412649410 | DMD | c.4479G>T (p.Leu1493Phe) c.429G>T (p.Leu143Phe) n.431G>T c.2253G>T (p.Leu751Phe) n.1150G>T n.732G>T n.1151G>T n.3125G>T c.1488G>T (p.Leu496Phe) c.9633G>T (p.Leu3211Phe) c.5601G>T (p.Leu1867Phe) c.306G>T (p.Leu102Phe) c.372G>T (p.Leu124Phe) n.563G>T c.1446G>T (p.Leu482Phe) c.2721G>T (p.Leu907Phe) c.9621G>T (p.Leu3207Phe) c.3G>T (p.Leu1Phe) c.9618G>T (p.Leu3206Phe) c.9630G>T (p.Leu3210Phe) c.9609G>T (p.Leu3203Phe) c.9264G>T (p.Leu3088Phe) c.5610G>T (p.Leu1870Phe) c.9504G>T (p.Leu3168Phe) c.9495G>T (p.Leu3165Phe) c.9510G>T (p.Leu3170Phe) c.3807G>T (p.Leu1269Phe) | |
X | g.31206598C>G | CA412649412 | DMD | c.4479G>C (p.Leu1493Phe) c.429G>C (p.Leu143Phe) n.431G>C c.2253G>C (p.Leu751Phe) n.1150G>C n.732G>C n.1151G>C n.3125G>C c.1488G>C (p.Leu496Phe) c.9633G>C (p.Leu3211Phe) c.5601G>C (p.Leu1867Phe) c.306G>C (p.Leu102Phe) c.372G>C (p.Leu124Phe) n.563G>C c.1446G>C (p.Leu482Phe) c.2721G>C (p.Leu907Phe) c.9621G>C (p.Leu3207Phe) c.3G>C (p.Leu1Phe) c.9618G>C (p.Leu3206Phe) c.9630G>C (p.Leu3210Phe) c.9609G>C (p.Leu3203Phe) c.9264G>C (p.Leu3088Phe) c.5610G>C (p.Leu1870Phe) c.9504G>C (p.Leu3168Phe) c.9495G>C (p.Leu3165Phe) c.9510G>C (p.Leu3170Phe) c.3807G>C (p.Leu1269Phe) | |
X | g.31206598C>T | CA515857034 | DMD | c.4479G>A (p.Leu1493=) c.429G>A (p.Leu143=) n.431G>A c.2253G>A (p.Leu751=) n.1150G>A n.732G>A n.1151G>A n.3125G>A c.1488G>A (p.Leu496=) c.9633G>A (p.Leu3211=) c.5601G>A (p.Leu1867=) c.306G>A (p.Leu102=) c.372G>A (p.Leu124=) n.563G>A c.1446G>A (p.Leu482=) c.2721G>A (p.Leu907=) c.9621G>A (p.Leu3207=) c.3G>A (p.Leu1=) c.9618G>A (p.Leu3206=) c.9630G>A (p.Leu3210=) c.9609G>A (p.Leu3203=) c.9264G>A (p.Leu3088=) c.5610G>A (p.Leu1870=) c.9504G>A (p.Leu3168=) c.9495G>A (p.Leu3165=) c.9510G>A (p.Leu3170=) c.3807G>A (p.Leu1269=) | ClinVar dbSNP |
X | g.31206599A>C | CA412649416 | DMD | c.4478T>G (p.Leu1493Trp) c.428T>G (p.Leu143Trp) n.430T>G c.2252T>G (p.Leu751Trp) n.1149T>G n.731T>G n.1150T>G n.3124T>G c.1487T>G (p.Leu496Trp) c.9632T>G (p.Leu3211Trp) c.5600T>G (p.Leu1867Trp) c.305T>G (p.Leu102Trp) c.371T>G (p.Leu124Trp) n.562T>G c.1445T>G (p.Leu482Trp) c.2720T>G (p.Leu907Trp) c.9620T>G (p.Leu3207Trp) c.2T>G (p.Leu1Trp) c.9617T>G (p.Leu3206Trp) c.9629T>G (p.Leu3210Trp) c.9608T>G (p.Leu3203Trp) c.9263T>G (p.Leu3088Trp) c.5609T>G (p.Leu1870Trp) c.9503T>G (p.Leu3168Trp) c.9494T>G (p.Leu3165Trp) c.9509T>G (p.Leu3170Trp) c.3806T>G (p.Leu1269Trp) | gnomAD v4 |
X | g.31206599A>G | CA412649417 | DMD | c.4478T>C (p.Leu1493Ser) c.428T>C (p.Leu143Ser) n.430T>C c.2252T>C (p.Leu751Ser) n.1149T>C n.731T>C n.1150T>C n.3124T>C c.1487T>C (p.Leu496Ser) c.9632T>C (p.Leu3211Ser) c.5600T>C (p.Leu1867Ser) c.305T>C (p.Leu102Ser) c.371T>C (p.Leu124Ser) n.562T>C c.1445T>C (p.Leu482Ser) c.2720T>C (p.Leu907Ser) c.9620T>C (p.Leu3207Ser) c.2T>C (p.Leu1Ser) c.9617T>C (p.Leu3206Ser) c.9629T>C (p.Leu3210Ser) c.9608T>C (p.Leu3203Ser) c.9263T>C (p.Leu3088Ser) c.5609T>C (p.Leu1870Ser) c.9503T>C (p.Leu3168Ser) c.9494T>C (p.Leu3165Ser) c.9509T>C (p.Leu3170Ser) c.3806T>C (p.Leu1269Ser) | |
X | g.31206599A>T | CA412649418 | DMD | c.4478T>A (p.Leu1493Ter) c.428T>A (p.Leu143Ter) n.430T>A c.2252T>A (p.Leu751Ter) n.1149T>A n.731T>A n.1150T>A n.3124T>A c.1487T>A (p.Leu496Ter) c.9632T>A (p.Leu3211Ter) c.5600T>A (p.Leu1867Ter) c.305T>A (p.Leu102Ter) c.371T>A (p.Leu124Ter) n.562T>A c.1445T>A (p.Leu482Ter) c.2720T>A (p.Leu907Ter) c.9620T>A (p.Leu3207Ter) c.2T>A (p.Leu1Ter) c.9617T>A (p.Leu3206Ter) c.9629T>A (p.Leu3210Ter) c.9608T>A (p.Leu3203Ter) c.9263T>A (p.Leu3088Ter) c.5609T>A (p.Leu1870Ter) c.9503T>A (p.Leu3168Ter) c.9494T>A (p.Leu3165Ter) c.9509T>A (p.Leu3170Ter) c.3806T>A (p.Leu1269Ter) | |
X | g.31206600A>C | CA412649420 | DMD | c.4477T>G (p.Leu1493Val) c.427T>G (p.Leu143Val) n.429T>G c.2251T>G (p.Leu751Val) n.1148T>G n.730T>G n.1149T>G n.3123T>G c.1486T>G (p.Leu496Val) c.9631T>G (p.Leu3211Val) c.5599T>G (p.Leu1867Val) c.304T>G (p.Leu102Val) c.370T>G (p.Leu124Val) n.561T>G c.1444T>G (p.Leu482Val) c.2719T>G (p.Leu907Val) c.9619T>G (p.Leu3207Val) c.1T>G (p.Leu1Val) c.9616T>G (p.Leu3206Val) c.9628T>G (p.Leu3210Val) c.9607T>G (p.Leu3203Val) c.9262T>G (p.Leu3088Val) c.5608T>G (p.Leu1870Val) c.9502T>G (p.Leu3168Val) c.9493T>G (p.Leu3165Val) c.9508T>G (p.Leu3170Val) c.3805T>G (p.Leu1269Val) | |
X | g.31206600A>G | CA515857036 | DMD | c.4477T>C (p.Leu1493=) c.427T>C (p.Leu143=) n.429T>C c.2251T>C (p.Leu751=) n.1148T>C n.730T>C n.1149T>C n.3123T>C c.1486T>C (p.Leu496=) c.9631T>C (p.Leu3211=) c.5599T>C (p.Leu1867=) c.304T>C (p.Leu102=) c.370T>C (p.Leu124=) n.561T>C c.1444T>C (p.Leu482=) c.2719T>C (p.Leu907=) c.9619T>C (p.Leu3207=) c.1T>C (p.Leu1=) c.9616T>C (p.Leu3206=) c.9628T>C (p.Leu3210=) c.9607T>C (p.Leu3203=) c.9262T>C (p.Leu3088=) c.5608T>C (p.Leu1870=) c.9502T>C (p.Leu3168=) c.9493T>C (p.Leu3165=) c.9508T>C (p.Leu3170=) c.3805T>C (p.Leu1269=) | |
X | g.31206600A>T | CA412649421 | DMD | c.4477T>A (p.Leu1493Met) c.427T>A (p.Leu143Met) n.429T>A c.2251T>A (p.Leu751Met) n.1148T>A n.730T>A n.1149T>A n.3123T>A c.1486T>A (p.Leu496Met) c.9631T>A (p.Leu3211Met) c.5599T>A (p.Leu1867Met) c.304T>A (p.Leu102Met) c.370T>A (p.Leu124Met) n.561T>A c.1444T>A (p.Leu482Met) c.2719T>A (p.Leu907Met) c.9619T>A (p.Leu3207Met) c.1T>A (p.Leu1Met) c.9616T>A (p.Leu3206Met) c.9628T>A (p.Leu3210Met) c.9607T>A (p.Leu3203Met) c.9262T>A (p.Leu3088Met) c.5608T>A (p.Leu1870Met) c.9502T>A (p.Leu3168Met) c.9493T>A (p.Leu3165Met) c.9508T>A (p.Leu3170Met) c.3805T>A (p.Leu1269Met) | |
X | g.31206601A>C | CA412649423 | DMD | c.4476T>G (p.His1492Gln) c.426T>G (p.His142Gln) n.428T>G c.2250T>G (p.His750Gln) n.1147T>G n.729T>G n.1148T>G n.3122T>G c.1485T>G (p.His495Gln) c.9630T>G (p.His3210Gln) c.5598T>G (p.His1866Gln) c.303T>G (p.His101Gln) c.369T>G (p.His123Gln) n.560T>G c.1443T>G (p.His481Gln) c.2718T>G (p.His906Gln) c.9618T>G (p.His3206Gln) c.9615T>G (p.His3205Gln) c.9627T>G (p.His3209Gln) c.9606T>G (p.His3202Gln) c.9261T>G (p.His3087Gln) c.5607T>G (p.His1869Gln) c.9501T>G (p.His3167Gln) c.9492T>G (p.His3164Gln) c.9507T>G (p.His3169Gln) c.3804T>G (p.His1268Gln) | |
X | g.31206601A>G | CA515857037 | DMD | c.4476T>C (p.His1492=) c.426T>C (p.His142=) n.428T>C c.2250T>C (p.His750=) n.1147T>C n.729T>C n.1148T>C n.3122T>C c.1485T>C (p.His495=) c.9630T>C (p.His3210=) c.5598T>C (p.His1866=) c.303T>C (p.His101=) c.369T>C (p.His123=) n.560T>C c.1443T>C (p.His481=) c.2718T>C (p.His906=) c.9618T>C (p.His3206=) c.9615T>C (p.His3205=) c.9627T>C (p.His3209=) c.9606T>C (p.His3202=) c.9261T>C (p.His3087=) c.5607T>C (p.His1869=) c.9501T>C (p.His3167=) c.9492T>C (p.His3164=) c.9507T>C (p.His3169=) c.3804T>C (p.His1268=) | |
X | g.31206601A>T | CA412649425 | DMD | c.4476T>A (p.His1492Gln) c.426T>A (p.His142Gln) n.428T>A c.2250T>A (p.His750Gln) n.1147T>A n.729T>A n.1148T>A n.3122T>A c.1485T>A (p.His495Gln) c.9630T>A (p.His3210Gln) c.5598T>A (p.His1866Gln) c.303T>A (p.His101Gln) c.369T>A (p.His123Gln) n.560T>A c.1443T>A (p.His481Gln) c.2718T>A (p.His906Gln) c.9618T>A (p.His3206Gln) c.9615T>A (p.His3205Gln) c.9627T>A (p.His3209Gln) c.9606T>A (p.His3202Gln) c.9261T>A (p.His3087Gln) c.5607T>A (p.His1869Gln) c.9501T>A (p.His3167Gln) c.9492T>A (p.His3164Gln) c.9507T>A (p.His3169Gln) c.3804T>A (p.His1268Gln) | |
X | g.31206602T>A | CA412649426 | DMD | c.4475A>T (p.His1492Leu) c.425A>T (p.His142Leu) n.427A>T c.2249A>T (p.His750Leu) n.1146A>T n.728A>T n.1147A>T n.3121A>T c.1484A>T (p.His495Leu) c.9629A>T (p.His3210Leu) c.5597A>T (p.His1866Leu) c.302A>T (p.His101Leu) c.368A>T (p.His123Leu) n.559A>T c.1442A>T (p.His481Leu) c.2717A>T (p.His906Leu) c.9617A>T (p.His3206Leu) c.9614A>T (p.His3205Leu) c.9626A>T (p.His3209Leu) c.9605A>T (p.His3202Leu) c.9260A>T (p.His3087Leu) c.5606A>T (p.His1869Leu) c.9500A>T (p.His3167Leu) c.9491A>T (p.His3164Leu) c.9506A>T (p.His3169Leu) c.3803A>T (p.His1268Leu) | |
X | g.31206602T>C | CA412649428 | DMD | c.4475A>G (p.His1492Arg) c.425A>G (p.His142Arg) n.427A>G c.2249A>G (p.His750Arg) n.1146A>G n.728A>G n.1147A>G n.3121A>G c.1484A>G (p.His495Arg) c.9629A>G (p.His3210Arg) c.5597A>G (p.His1866Arg) c.302A>G (p.His101Arg) c.368A>G (p.His123Arg) n.559A>G c.1442A>G (p.His481Arg) c.2717A>G (p.His906Arg) c.9617A>G (p.His3206Arg) c.9614A>G (p.His3205Arg) c.9626A>G (p.His3209Arg) c.9605A>G (p.His3202Arg) c.9260A>G (p.His3087Arg) c.5606A>G (p.His1869Arg) c.9500A>G (p.His3167Arg) c.9491A>G (p.His3164Arg) c.9506A>G (p.His3169Arg) c.3803A>G (p.His1268Arg) | gnomAD v4 |
X | g.31206602T>G | CA412649431 | DMD | c.4475A>C (p.His1492Pro) c.425A>C (p.His142Pro) n.427A>C c.2249A>C (p.His750Pro) n.1146A>C n.728A>C n.1147A>C n.3121A>C c.1484A>C (p.His495Pro) c.9629A>C (p.His3210Pro) c.5597A>C (p.His1866Pro) c.302A>C (p.His101Pro) c.368A>C (p.His123Pro) n.559A>C c.1442A>C (p.His481Pro) c.2717A>C (p.His906Pro) c.9617A>C (p.His3206Pro) c.9614A>C (p.His3205Pro) c.9626A>C (p.His3209Pro) c.9605A>C (p.His3202Pro) c.9260A>C (p.His3087Pro) c.5606A>C (p.His1869Pro) c.9500A>C (p.His3167Pro) c.9491A>C (p.His3164Pro) c.9506A>C (p.His3169Pro) c.3803A>C (p.His1268Pro) | |
X | g.31206603G>A | CA10377770 | DMD | c.4474C>T (p.His1492Tyr) c.424C>T (p.His142Tyr) n.426C>T c.2248C>T (p.His750Tyr) n.1145C>T n.727C>T n.1146C>T n.3120C>T c.1483C>T (p.His495Tyr) c.9628C>T (p.His3210Tyr) c.5596C>T (p.His1866Tyr) c.301C>T (p.His101Tyr) c.367C>T (p.His123Tyr) n.558C>T c.1441C>T (p.His481Tyr) c.2716C>T (p.His906Tyr) c.9616C>T (p.His3206Tyr) c.9613C>T (p.His3205Tyr) c.9625C>T (p.His3209Tyr) c.9604C>T (p.His3202Tyr) c.9259C>T (p.His3087Tyr) c.5605C>T (p.His1869Tyr) c.9499C>T (p.His3167Tyr) c.9490C>T (p.His3164Tyr) c.9505C>T (p.His3169Tyr) c.3802C>T (p.His1268Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31206603G>C | CA412649433 | DMD | c.4474C>G (p.His1492Asp) c.424C>G (p.His142Asp) n.426C>G c.2248C>G (p.His750Asp) n.1145C>G n.727C>G n.1146C>G n.3120C>G c.1483C>G (p.His495Asp) c.9628C>G (p.His3210Asp) c.5596C>G (p.His1866Asp) c.301C>G (p.His101Asp) c.367C>G (p.His123Asp) n.558C>G c.1441C>G (p.His481Asp) c.2716C>G (p.His906Asp) c.9616C>G (p.His3206Asp) c.9613C>G (p.His3205Asp) c.9625C>G (p.His3209Asp) c.9604C>G (p.His3202Asp) c.9259C>G (p.His3087Asp) c.5605C>G (p.His1869Asp) c.9499C>G (p.His3167Asp) c.9490C>G (p.His3164Asp) c.9505C>G (p.His3169Asp) c.3802C>G (p.His1268Asp) | |
X | g.31206603G= | CA2422348453 | DMD | c.4474C= (p.His1492=) c.424C= (p.His142=) n.426C= c.2248C= (p.His750=) n.1145C= n.727C= n.1146C= n.3120C= c.1483C= (p.His495=) c.9628C= (p.His3210=) c.5596C= (p.His1866=) c.301C= (p.His101=) c.367C= (p.His123=) n.558C= c.1441C= (p.His481=) c.2716C= (p.His906=) c.9616C= (p.His3206=) c.9613C= (p.His3205=) c.9625C= (p.His3209=) c.9604C= (p.His3202=) c.9259C= (p.His3087=) c.5605C= (p.His1869=) c.9499C= (p.His3167=) c.9490C= (p.His3164=) c.9505C= (p.His3169=) c.3802C= (p.His1268=) | |
X | g.31206603G>T | CA412649432 | DMD | c.4474C>A (p.His1492Asn) c.424C>A (p.His142Asn) n.426C>A c.2248C>A (p.His750Asn) n.1145C>A n.727C>A n.1146C>A n.3120C>A c.1483C>A (p.His495Asn) c.9628C>A (p.His3210Asn) c.5596C>A (p.His1866Asn) c.301C>A (p.His101Asn) c.367C>A (p.His123Asn) n.558C>A c.1441C>A (p.His481Asn) c.2716C>A (p.His906Asn) c.9616C>A (p.His3206Asn) c.9613C>A (p.His3205Asn) c.9625C>A (p.His3209Asn) c.9604C>A (p.His3202Asn) c.9259C>A (p.His3087Asn) c.5605C>A (p.His1869Asn) c.9499C>A (p.His3167Asn) c.9490C>A (p.His3164Asn) c.9505C>A (p.His3169Asn) c.3802C>A (p.His1268Asn) | |
X | g.31206604T>A | CA515857041 | DMD | c.4473A>T (p.Ala1491=) c.423A>T (p.Ala141=) n.425A>T c.2247A>T (p.Ala749=) n.1144A>T n.726A>T n.1145A>T n.3119A>T c.1482A>T (p.Ala494=) c.9627A>T (p.Ala3209=) c.5595A>T (p.Ala1865=) c.300A>T (p.Ala100=) c.366A>T (p.Ala122=) n.557A>T c.1440A>T (p.Ala480=) c.2715A>T (p.Ala905=) c.9615A>T (p.Ala3205=) c.9612A>T (p.Ala3204=) c.9624A>T (p.Ala3208=) c.9603A>T (p.Ala3201=) c.9258A>T (p.Ala3086=) c.5604A>T (p.Ala1868=) c.9498A>T (p.Ala3166=) c.9489A>T (p.Ala3163=) c.9504A>T (p.Ala3168=) c.3801A>T (p.Ala1267=) | |
X | g.31206604T>C | CA515857040 | DMD | c.4473A>G (p.Ala1491=) c.423A>G (p.Ala141=) n.425A>G c.2247A>G (p.Ala749=) n.1144A>G n.726A>G n.1145A>G n.3119A>G c.1482A>G (p.Ala494=) c.9627A>G (p.Ala3209=) c.5595A>G (p.Ala1865=) c.300A>G (p.Ala100=) c.366A>G (p.Ala122=) n.557A>G c.1440A>G (p.Ala480=) c.2715A>G (p.Ala905=) c.9615A>G (p.Ala3205=) c.9612A>G (p.Ala3204=) c.9624A>G (p.Ala3208=) c.9603A>G (p.Ala3201=) c.9258A>G (p.Ala3086=) c.5604A>G (p.Ala1868=) c.9498A>G (p.Ala3166=) c.9489A>G (p.Ala3163=) c.9504A>G (p.Ala3168=) c.3801A>G (p.Ala1267=) | gnomAD v4 |
X | g.31206604T>G | CA515857039 | DMD | c.4473A>C (p.Ala1491=) c.423A>C (p.Ala141=) n.425A>C c.2247A>C (p.Ala749=) n.1144A>C n.726A>C n.1145A>C n.3119A>C c.1482A>C (p.Ala494=) c.9627A>C (p.Ala3209=) c.5595A>C (p.Ala1865=) c.300A>C (p.Ala100=) c.366A>C (p.Ala122=) n.557A>C c.1440A>C (p.Ala480=) c.2715A>C (p.Ala905=) c.9615A>C (p.Ala3205=) c.9612A>C (p.Ala3204=) c.9624A>C (p.Ala3208=) c.9603A>C (p.Ala3201=) c.9258A>C (p.Ala3086=) c.5604A>C (p.Ala1868=) c.9498A>C (p.Ala3166=) c.9489A>C (p.Ala3163=) c.9504A>C (p.Ala3168=) c.3801A>C (p.Ala1267=) | |
X | g.31206605G>A | CA412649436 | DMD | c.4472C>T (p.Ala1491Val) c.422C>T (p.Ala141Val) n.424C>T c.2246C>T (p.Ala749Val) n.1143C>T n.725C>T n.1144C>T n.3118C>T c.1481C>T (p.Ala494Val) c.9626C>T (p.Ala3209Val) c.5594C>T (p.Ala1865Val) c.299C>T (p.Ala100Val) c.365C>T (p.Ala122Val) n.556C>T c.1439C>T (p.Ala480Val) c.2714C>T (p.Ala905Val) c.9614C>T (p.Ala3205Val) c.9611C>T (p.Ala3204Val) c.9623C>T (p.Ala3208Val) c.9602C>T (p.Ala3201Val) c.9257C>T (p.Ala3086Val) c.5603C>T (p.Ala1868Val) c.9497C>T (p.Ala3166Val) c.9488C>T (p.Ala3163Val) c.9503C>T (p.Ala3168Val) c.3800C>T (p.Ala1267Val) | |
X | g.31206605G>C | CA412649437 | DMD | c.4472C>G (p.Ala1491Gly) c.422C>G (p.Ala141Gly) n.424C>G c.2246C>G (p.Ala749Gly) n.1143C>G n.725C>G n.1144C>G n.3118C>G c.1481C>G (p.Ala494Gly) c.9626C>G (p.Ala3209Gly) c.5594C>G (p.Ala1865Gly) c.299C>G (p.Ala100Gly) c.365C>G (p.Ala122Gly) n.556C>G c.1439C>G (p.Ala480Gly) c.2714C>G (p.Ala905Gly) c.9614C>G (p.Ala3205Gly) c.9611C>G (p.Ala3204Gly) c.9623C>G (p.Ala3208Gly) c.9602C>G (p.Ala3201Gly) c.9257C>G (p.Ala3086Gly) c.5603C>G (p.Ala1868Gly) c.9497C>G (p.Ala3166Gly) c.9488C>G (p.Ala3163Gly) c.9503C>G (p.Ala3168Gly) c.3800C>G (p.Ala1267Gly) | |
X | g.31206605G>T | CA412649438 | DMD | c.4472C>A (p.Ala1491Glu) c.422C>A (p.Ala141Glu) n.424C>A c.2246C>A (p.Ala749Glu) n.1143C>A n.725C>A n.1144C>A n.3118C>A c.1481C>A (p.Ala494Glu) c.9626C>A (p.Ala3209Glu) c.5594C>A (p.Ala1865Glu) c.299C>A (p.Ala100Glu) c.365C>A (p.Ala122Glu) n.556C>A c.1439C>A (p.Ala480Glu) c.2714C>A (p.Ala905Glu) c.9614C>A (p.Ala3205Glu) c.9611C>A (p.Ala3204Glu) c.9623C>A (p.Ala3208Glu) c.9602C>A (p.Ala3201Glu) c.9257C>A (p.Ala3086Glu) c.5603C>A (p.Ala1868Glu) c.9497C>A (p.Ala3166Glu) c.9488C>A (p.Ala3163Glu) c.9503C>A (p.Ala3168Glu) c.3800C>A (p.Ala1267Glu) | |
X | g.31206605_31206612del | CA2580100565 | DMD | c.4465_4472del (p.Cys1489ThrfsTer21) c.415_422del (p.Cys139ThrfsTer21) n.417_424del c.2239_2246del (p.Cys747ThrfsTer21) n.1136_1143del n.718_725del n.1137_1144del n.3111_3118del c.1474_1481del (p.Cys492ThrfsTer21) c.9619_9626del (p.Cys3207ThrfsTer21) c.5587_5594del (p.Cys1863ThrfsTer21) c.292_299del (p.Cys98ThrfsTer21) c.358_365del (p.Cys120ThrfsTer21) n.549_556del c.1432_1439del (p.Cys478ThrfsTer21) c.2707_2714del (p.Cys903ThrfsTer21) c.9607_9614del (p.Cys3203ThrfsTer21) c.9604_9611del (p.Cys3202ThrfsTer21) c.9616_9623del (p.Cys3206ThrfsTer21) c.9595_9602del (p.Cys3199ThrfsTer21) c.9250_9257del (p.Cys3084ThrfsTer21) c.5596_5603del (p.Cys1866ThrfsTer21) c.9490_9497del (p.Cys3164ThrfsTer21) c.9481_9488del (p.Cys3161ThrfsTer21) c.9496_9503del (p.Cys3166ThrfsTer21) c.3793_3800del (p.Cys1265ThrfsTer21) | ClinVar |
X | g.31206606C>A | CA412649440 | DMD | c.4471G>T (p.Ala1491Ser) c.421G>T (p.Ala141Ser) n.423G>T c.2245G>T (p.Ala749Ser) n.1142G>T n.724G>T n.1143G>T n.3117G>T c.1480G>T (p.Ala494Ser) c.9625G>T (p.Ala3209Ser) c.5593G>T (p.Ala1865Ser) c.298G>T (p.Ala100Ser) c.364G>T (p.Ala122Ser) n.555G>T c.1438G>T (p.Ala480Ser) c.2713G>T (p.Ala905Ser) c.9613G>T (p.Ala3205Ser) c.9610G>T (p.Ala3204Ser) c.9622G>T (p.Ala3208Ser) c.9601G>T (p.Ala3201Ser) c.9256G>T (p.Ala3086Ser) c.5602G>T (p.Ala1868Ser) c.9496G>T (p.Ala3166Ser) c.9487G>T (p.Ala3163Ser) c.9502G>T (p.Ala3168Ser) c.3799G>T (p.Ala1267Ser) | |
X | g.31206606C>G | CA412649441 | DMD | c.4471G>C (p.Ala1491Pro) c.421G>C (p.Ala141Pro) n.423G>C c.2245G>C (p.Ala749Pro) n.1142G>C n.724G>C n.1143G>C n.3117G>C c.1480G>C (p.Ala494Pro) c.9625G>C (p.Ala3209Pro) c.5593G>C (p.Ala1865Pro) c.298G>C (p.Ala100Pro) c.364G>C (p.Ala122Pro) n.555G>C c.1438G>C (p.Ala480Pro) c.2713G>C (p.Ala905Pro) c.9613G>C (p.Ala3205Pro) c.9610G>C (p.Ala3204Pro) c.9622G>C (p.Ala3208Pro) c.9601G>C (p.Ala3201Pro) c.9256G>C (p.Ala3086Pro) c.5602G>C (p.Ala1868Pro) c.9496G>C (p.Ala3166Pro) c.9487G>C (p.Ala3163Pro) c.9502G>C (p.Ala3168Pro) c.3799G>C (p.Ala1267Pro) | |
X | g.31206606C>T | CA412649443 | DMD | c.4471G>A (p.Ala1491Thr) c.421G>A (p.Ala141Thr) n.423G>A c.2245G>A (p.Ala749Thr) n.1142G>A n.724G>A n.1143G>A n.3117G>A c.1480G>A (p.Ala494Thr) c.9625G>A (p.Ala3209Thr) c.5593G>A (p.Ala1865Thr) c.298G>A (p.Ala100Thr) c.364G>A (p.Ala122Thr) n.555G>A c.1438G>A (p.Ala480Thr) c.2713G>A (p.Ala905Thr) c.9613G>A (p.Ala3205Thr) c.9610G>A (p.Ala3204Thr) c.9622G>A (p.Ala3208Thr) c.9601G>A (p.Ala3201Thr) c.9256G>A (p.Ala3086Thr) c.5602G>A (p.Ala1868Thr) c.9496G>A (p.Ala3166Thr) c.9487G>A (p.Ala3163Thr) c.9502G>A (p.Ala3168Thr) c.3799G>A (p.Ala1267Thr) | |
X | g.31206607T>A | CA412649445 | DMD | c.4470A>T (p.Lys1490Asn) c.420A>T (p.Lys140Asn) n.422A>T c.2244A>T (p.Lys748Asn) n.1141A>T n.723A>T n.1142A>T n.3116A>T c.1479A>T (p.Lys493Asn) c.9624A>T (p.Lys3208Asn) c.5592A>T (p.Lys1864Asn) c.297A>T (p.Lys99Asn) c.363A>T (p.Lys121Asn) n.554A>T c.1437A>T (p.Lys479Asn) c.2712A>T (p.Lys904Asn) c.9612A>T (p.Lys3204Asn) c.9609A>T (p.Lys3203Asn) c.9621A>T (p.Lys3207Asn) c.9600A>T (p.Lys3200Asn) c.9255A>T (p.Lys3085Asn) c.5601A>T (p.Lys1867Asn) c.9495A>T (p.Lys3165Asn) c.9486A>T (p.Lys3162Asn) c.9501A>T (p.Lys3167Asn) c.3798A>T (p.Lys1266Asn) | |
X | g.31206607T>C | CA515857042 | DMD | c.4470A>G (p.Lys1490=) c.420A>G (p.Lys140=) n.422A>G c.2244A>G (p.Lys748=) n.1141A>G n.723A>G n.1142A>G n.3116A>G c.1479A>G (p.Lys493=) c.9624A>G (p.Lys3208=) c.5592A>G (p.Lys1864=) c.297A>G (p.Lys99=) c.363A>G (p.Lys121=) n.554A>G c.1437A>G (p.Lys479=) c.2712A>G (p.Lys904=) c.9612A>G (p.Lys3204=) c.9609A>G (p.Lys3203=) c.9621A>G (p.Lys3207=) c.9600A>G (p.Lys3200=) c.9255A>G (p.Lys3085=) c.5601A>G (p.Lys1867=) c.9495A>G (p.Lys3165=) c.9486A>G (p.Lys3162=) c.9501A>G (p.Lys3167=) c.3798A>G (p.Lys1266=) | |
X | g.31206607T>G | CA412649446 | DMD | c.4470A>C (p.Lys1490Asn) c.420A>C (p.Lys140Asn) n.422A>C c.2244A>C (p.Lys748Asn) n.1141A>C n.723A>C n.1142A>C n.3116A>C c.1479A>C (p.Lys493Asn) c.9624A>C (p.Lys3208Asn) c.5592A>C (p.Lys1864Asn) c.297A>C (p.Lys99Asn) c.363A>C (p.Lys121Asn) n.554A>C c.1437A>C (p.Lys479Asn) c.2712A>C (p.Lys904Asn) c.9612A>C (p.Lys3204Asn) c.9609A>C (p.Lys3203Asn) c.9621A>C (p.Lys3207Asn) c.9600A>C (p.Lys3200Asn) c.9255A>C (p.Lys3085Asn) c.5601A>C (p.Lys1867Asn) c.9495A>C (p.Lys3165Asn) c.9486A>C (p.Lys3162Asn) c.9501A>C (p.Lys3167Asn) c.3798A>C (p.Lys1266Asn) | |
X | g.31206609del | CA2499226610 | DMD | c.4470del (p.Ala1491HisfsTer?) c.420del (p.Ala141HisfsTer?) n.422del c.2244del (p.Ala749HisfsTer?) n.1141del n.723del n.1142del n.3116del c.1479del (p.Ala494HisfsTer?) c.9624del (p.Ala3209HisfsTer?) c.5592del (p.Ala1865HisfsTer?) c.297del (p.Ala100HisfsTer?) c.363del (p.Ala122HisfsTer?) n.554del c.1437del (p.Ala480HisfsTer?) c.2712del (p.Ala905HisfsTer?) c.9612del (p.Ala3205HisfsTer?) c.9609del (p.Ala3204HisfsTer?) c.9621del (p.Ala3208HisfsTer?) c.9600del (p.Ala3201HisfsTer?) c.9255del (p.Ala3086HisfsTer?) c.5601del (p.Ala1868HisfsTer?) c.9495del (p.Ala3166HisfsTer?) c.9486del (p.Ala3163HisfsTer?) c.9501del (p.Ala3168HisfsTer?) c.3798del (p.Ala1267HisfsTer?) | ClinVar dbSNP |
X | g.31206608T>A | CA412649448 | DMD | c.4469A>T (p.Lys1490Ile) c.419A>T (p.Lys140Ile) n.421A>T c.2243A>T (p.Lys748Ile) n.1140A>T n.722A>T n.1141A>T n.3115A>T c.1478A>T (p.Lys493Ile) c.9623A>T (p.Lys3208Ile) c.5591A>T (p.Lys1864Ile) c.296A>T (p.Lys99Ile) c.362A>T (p.Lys121Ile) n.553A>T c.1436A>T (p.Lys479Ile) c.2711A>T (p.Lys904Ile) c.9611A>T (p.Lys3204Ile) c.9608A>T (p.Lys3203Ile) c.9620A>T (p.Lys3207Ile) c.9599A>T (p.Lys3200Ile) c.9254A>T (p.Lys3085Ile) c.5600A>T (p.Lys1867Ile) c.9494A>T (p.Lys3165Ile) c.9485A>T (p.Lys3162Ile) c.9500A>T (p.Lys3167Ile) c.3797A>T (p.Lys1266Ile) | |
X | g.31206608T>C | CA412649450 | DMD | c.4469A>G (p.Lys1490Arg) c.419A>G (p.Lys140Arg) n.421A>G c.2243A>G (p.Lys748Arg) n.1140A>G n.722A>G n.1141A>G n.3115A>G c.1478A>G (p.Lys493Arg) c.9623A>G (p.Lys3208Arg) c.5591A>G (p.Lys1864Arg) c.296A>G (p.Lys99Arg) c.362A>G (p.Lys121Arg) n.553A>G c.1436A>G (p.Lys479Arg) c.2711A>G (p.Lys904Arg) c.9611A>G (p.Lys3204Arg) c.9608A>G (p.Lys3203Arg) c.9620A>G (p.Lys3207Arg) c.9599A>G (p.Lys3200Arg) c.9254A>G (p.Lys3085Arg) c.5600A>G (p.Lys1867Arg) c.9494A>G (p.Lys3165Arg) c.9485A>G (p.Lys3162Arg) c.9500A>G (p.Lys3167Arg) c.3797A>G (p.Lys1266Arg) | |
X | g.31206608T>G | CA412649452 | DMD | c.4469A>C (p.Lys1490Thr) c.419A>C (p.Lys140Thr) n.421A>C c.2243A>C (p.Lys748Thr) n.1140A>C n.722A>C n.1141A>C n.3115A>C c.1478A>C (p.Lys493Thr) c.9623A>C (p.Lys3208Thr) c.5591A>C (p.Lys1864Thr) c.296A>C (p.Lys99Thr) c.362A>C (p.Lys121Thr) n.553A>C c.1436A>C (p.Lys479Thr) c.2711A>C (p.Lys904Thr) c.9611A>C (p.Lys3204Thr) c.9608A>C (p.Lys3203Thr) c.9620A>C (p.Lys3207Thr) c.9599A>C (p.Lys3200Thr) c.9254A>C (p.Lys3085Thr) c.5600A>C (p.Lys1867Thr) c.9494A>C (p.Lys3165Thr) c.9485A>C (p.Lys3162Thr) c.9500A>C (p.Lys3167Thr) c.3797A>C (p.Lys1266Thr) | |
X | g.31206609T>A | CA412649454 | DMD | c.4468A>T (p.Lys1490Ter) c.418A>T (p.Lys140Ter) n.420A>T c.2242A>T (p.Lys748Ter) n.1139A>T n.721A>T n.1140A>T n.3114A>T c.1477A>T (p.Lys493Ter) c.9622A>T (p.Lys3208Ter) c.5590A>T (p.Lys1864Ter) c.295A>T (p.Lys99Ter) c.361A>T (p.Lys121Ter) n.552A>T c.1435A>T (p.Lys479Ter) c.2710A>T (p.Lys904Ter) c.9610A>T (p.Lys3204Ter) c.9607A>T (p.Lys3203Ter) c.9619A>T (p.Lys3207Ter) c.9598A>T (p.Lys3200Ter) c.9253A>T (p.Lys3085Ter) c.5599A>T (p.Lys1867Ter) c.9493A>T (p.Lys3165Ter) c.9484A>T (p.Lys3162Ter) c.9499A>T (p.Lys3167Ter) c.3796A>T (p.Lys1266Ter) | |
X | g.31206609T>C | CA412649456 | DMD | c.4468A>G (p.Lys1490Glu) c.418A>G (p.Lys140Glu) n.420A>G c.2242A>G (p.Lys748Glu) n.1139A>G n.721A>G n.1140A>G n.3114A>G c.1477A>G (p.Lys493Glu) c.9622A>G (p.Lys3208Glu) c.5590A>G (p.Lys1864Glu) c.295A>G (p.Lys99Glu) c.361A>G (p.Lys121Glu) n.552A>G c.1435A>G (p.Lys479Glu) c.2710A>G (p.Lys904Glu) c.9610A>G (p.Lys3204Glu) c.9607A>G (p.Lys3203Glu) c.9619A>G (p.Lys3207Glu) c.9598A>G (p.Lys3200Glu) c.9253A>G (p.Lys3085Glu) c.5599A>G (p.Lys1867Glu) c.9493A>G (p.Lys3165Glu) c.9484A>G (p.Lys3162Glu) c.9499A>G (p.Lys3167Glu) c.3796A>G (p.Lys1266Glu) | dbSNP |
X | g.31206609T>G | CA412649453 | DMD | c.4468A>C (p.Lys1490Gln) c.418A>C (p.Lys140Gln) n.420A>C c.2242A>C (p.Lys748Gln) n.1139A>C n.721A>C n.1140A>C n.3114A>C c.1477A>C (p.Lys493Gln) c.9622A>C (p.Lys3208Gln) c.5590A>C (p.Lys1864Gln) c.295A>C (p.Lys99Gln) c.361A>C (p.Lys121Gln) n.552A>C c.1435A>C (p.Lys479Gln) c.2710A>C (p.Lys904Gln) c.9610A>C (p.Lys3204Gln) c.9607A>C (p.Lys3203Gln) c.9619A>C (p.Lys3207Gln) c.9598A>C (p.Lys3200Gln) c.9253A>C (p.Lys3085Gln) c.5599A>C (p.Lys1867Gln) c.9493A>C (p.Lys3165Gln) c.9484A>C (p.Lys3162Gln) c.9499A>C (p.Lys3167Gln) c.3796A>C (p.Lys1266Gln) | |
X | g.31206609T= | CA2422348454 | DMD | c.4468A= (p.Lys1490=) c.418A= (p.Lys140=) n.420A= c.2242A= (p.Lys748=) n.1139A= n.721A= n.1140A= n.3114A= c.1477A= (p.Lys493=) c.9622A= (p.Lys3208=) c.5590A= (p.Lys1864=) c.295A= (p.Lys99=) c.361A= (p.Lys121=) n.552A= c.1435A= (p.Lys479=) c.2710A= (p.Lys904=) c.9610A= (p.Lys3204=) c.9607A= (p.Lys3203=) c.9619A= (p.Lys3207=) c.9598A= (p.Lys3200=) c.9253A= (p.Lys3085=) c.5599A= (p.Lys1867=) c.9493A= (p.Lys3165=) c.9484A= (p.Lys3162=) c.9499A= (p.Lys3167=) c.3796A= (p.Lys1266=) | |
X | g.31206610del | CA2695232306 | DMD | c.4467del (p.Cys1489Ter) c.417del (p.Cys139Ter) n.419del c.2241del (p.Cys747Ter) n.1138del n.720del n.1139del n.3113del c.1476del (p.Cys492Ter) c.9621del (p.Cys3207Ter) c.5589del (p.Cys1863Ter) c.294del (p.Cys98Ter) c.360del (p.Cys120Ter) n.551del c.1434del (p.Cys478Ter) c.2709del (p.Cys903Ter) c.9609del (p.Cys3203Ter) c.9606del (p.Cys3202Ter) c.9618del (p.Cys3206Ter) c.9597del (p.Cys3199Ter) c.9252del (p.Cys3084Ter) c.5598del (p.Cys1866Ter) c.9492del (p.Cys3164Ter) c.9483del (p.Cys3161Ter) c.9498del (p.Cys3166Ter) c.3795del (p.Cys1265Ter) | |
X | g.31206610A= | CA2422348455 | DMD | c.4467T= (p.Cys1489=) c.417T= (p.Cys139=) n.419T= c.2241T= (p.Cys747=) n.1138T= n.720T= n.1139T= n.3113T= c.1476T= (p.Cys492=) c.9621T= (p.Cys3207=) c.5589T= (p.Cys1863=) c.294T= (p.Cys98=) c.360T= (p.Cys120=) n.551T= c.1434T= (p.Cys478=) c.2709T= (p.Cys903=) c.9609T= (p.Cys3203=) c.9606T= (p.Cys3202=) c.9618T= (p.Cys3206=) c.9597T= (p.Cys3199=) c.9252T= (p.Cys3084=) c.5598T= (p.Cys1866=) c.9492T= (p.Cys3164=) c.9483T= (p.Cys3161=) c.9498T= (p.Cys3166=) c.3795T= (p.Cys1265=) | |
X | g.31206610A>C | CA412649457 | DMD | c.4467T>G (p.Cys1489Trp) c.417T>G (p.Cys139Trp) n.419T>G c.2241T>G (p.Cys747Trp) n.1138T>G n.720T>G n.1139T>G n.3113T>G c.1476T>G (p.Cys492Trp) c.9621T>G (p.Cys3207Trp) c.5589T>G (p.Cys1863Trp) c.294T>G (p.Cys98Trp) c.360T>G (p.Cys120Trp) n.551T>G c.1434T>G (p.Cys478Trp) c.2709T>G (p.Cys903Trp) c.9609T>G (p.Cys3203Trp) c.9606T>G (p.Cys3202Trp) c.9618T>G (p.Cys3206Trp) c.9597T>G (p.Cys3199Trp) c.9252T>G (p.Cys3084Trp) c.5598T>G (p.Cys1866Trp) c.9492T>G (p.Cys3164Trp) c.9483T>G (p.Cys3161Trp) c.9498T>G (p.Cys3166Trp) c.3795T>G (p.Cys1265Trp) | |
X | g.31206610A>G | CA16608424 | DMD | c.4467T>C (p.Cys1489=) c.417T>C (p.Cys139=) n.419T>C c.2241T>C (p.Cys747=) n.1138T>C n.720T>C n.1139T>C n.3113T>C c.1476T>C (p.Cys492=) c.9621T>C (p.Cys3207=) c.5589T>C (p.Cys1863=) c.294T>C (p.Cys98=) c.360T>C (p.Cys120=) n.551T>C c.1434T>C (p.Cys478=) c.2709T>C (p.Cys903=) c.9609T>C (p.Cys3203=) c.9606T>C (p.Cys3202=) c.9618T>C (p.Cys3206=) c.9597T>C (p.Cys3199=) c.9252T>C (p.Cys3084=) c.5598T>C (p.Cys1866=) c.9492T>C (p.Cys3164=) c.9483T>C (p.Cys3161=) c.9498T>C (p.Cys3166=) c.3795T>C (p.Cys1265=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31206610A>T | CA16616655 | DMD | c.4467T>A (p.Cys1489Ter) c.417T>A (p.Cys139Ter) n.419T>A c.2241T>A (p.Cys747Ter) n.1138T>A n.720T>A n.1139T>A n.3113T>A c.1476T>A (p.Cys492Ter) c.9621T>A (p.Cys3207Ter) c.5589T>A (p.Cys1863Ter) c.294T>A (p.Cys98Ter) c.360T>A (p.Cys120Ter) n.551T>A c.1434T>A (p.Cys478Ter) c.2709T>A (p.Cys903Ter) c.9609T>A (p.Cys3203Ter) c.9606T>A (p.Cys3202Ter) c.9618T>A (p.Cys3206Ter) c.9597T>A (p.Cys3199Ter) c.9252T>A (p.Cys3084Ter) c.5598T>A (p.Cys1866Ter) c.9492T>A (p.Cys3164Ter) c.9483T>A (p.Cys3161Ter) c.9498T>A (p.Cys3166Ter) c.3795T>A (p.Cys1265Ter) | ClinVar dbSNP |
X | g.31206611C>A | CA412649459 | DMD | c.4466G>T (p.Cys1489Phe) c.416G>T (p.Cys139Phe) n.418G>T c.2240G>T (p.Cys747Phe) n.1137G>T n.719G>T n.1138G>T n.3112G>T c.1475G>T (p.Cys492Phe) c.9620G>T (p.Cys3207Phe) c.5588G>T (p.Cys1863Phe) c.293G>T (p.Cys98Phe) c.359G>T (p.Cys120Phe) n.550G>T c.1433G>T (p.Cys478Phe) c.2708G>T (p.Cys903Phe) c.9608G>T (p.Cys3203Phe) c.9605G>T (p.Cys3202Phe) c.9617G>T (p.Cys3206Phe) c.9596G>T (p.Cys3199Phe) c.9251G>T (p.Cys3084Phe) c.5597G>T (p.Cys1866Phe) c.9491G>T (p.Cys3164Phe) c.9482G>T (p.Cys3161Phe) c.9497G>T (p.Cys3166Phe) c.3794G>T (p.Cys1265Phe) | |
X | g.31206611C>G | CA412649460 | DMD | c.4466G>C (p.Cys1489Ser) c.416G>C (p.Cys139Ser) n.418G>C c.2240G>C (p.Cys747Ser) n.1137G>C n.719G>C n.1138G>C n.3112G>C c.1475G>C (p.Cys492Ser) c.9620G>C (p.Cys3207Ser) c.5588G>C (p.Cys1863Ser) c.293G>C (p.Cys98Ser) c.359G>C (p.Cys120Ser) n.550G>C c.1433G>C (p.Cys478Ser) c.2708G>C (p.Cys903Ser) c.9608G>C (p.Cys3203Ser) c.9605G>C (p.Cys3202Ser) c.9617G>C (p.Cys3206Ser) c.9596G>C (p.Cys3199Ser) c.9251G>C (p.Cys3084Ser) c.5597G>C (p.Cys1866Ser) c.9491G>C (p.Cys3164Ser) c.9482G>C (p.Cys3161Ser) c.9497G>C (p.Cys3166Ser) c.3794G>C (p.Cys1265Ser) | |
X | g.31206611C>T | CA412649461 | DMD | c.4466G>A (p.Cys1489Tyr) c.416G>A (p.Cys139Tyr) n.418G>A c.2240G>A (p.Cys747Tyr) n.1137G>A n.719G>A n.1138G>A n.3112G>A c.1475G>A (p.Cys492Tyr) c.9620G>A (p.Cys3207Tyr) c.5588G>A (p.Cys1863Tyr) c.293G>A (p.Cys98Tyr) c.359G>A (p.Cys120Tyr) n.550G>A c.1433G>A (p.Cys478Tyr) c.2708G>A (p.Cys903Tyr) c.9608G>A (p.Cys3203Tyr) c.9605G>A (p.Cys3202Tyr) c.9617G>A (p.Cys3206Tyr) c.9596G>A (p.Cys3199Tyr) c.9251G>A (p.Cys3084Tyr) c.5597G>A (p.Cys1866Tyr) c.9491G>A (p.Cys3164Tyr) c.9482G>A (p.Cys3161Tyr) c.9497G>A (p.Cys3166Tyr) c.3794G>A (p.Cys1265Tyr) | |
X | g.31206612A>C | CA412649466 | DMD | c.4465T>G (p.Cys1489Gly) c.415T>G (p.Cys139Gly) n.417T>G c.2239T>G (p.Cys747Gly) n.1136T>G n.718T>G n.1137T>G n.3111T>G c.1474T>G (p.Cys492Gly) c.9619T>G (p.Cys3207Gly) c.5587T>G (p.Cys1863Gly) c.292T>G (p.Cys98Gly) c.358T>G (p.Cys120Gly) n.549T>G c.1432T>G (p.Cys478Gly) c.2707T>G (p.Cys903Gly) c.9607T>G (p.Cys3203Gly) c.9604T>G (p.Cys3202Gly) c.9616T>G (p.Cys3206Gly) c.9595T>G (p.Cys3199Gly) c.9250T>G (p.Cys3084Gly) c.5596T>G (p.Cys1866Gly) c.9490T>G (p.Cys3164Gly) c.9481T>G (p.Cys3161Gly) c.9496T>G (p.Cys3166Gly) c.3793T>G (p.Cys1265Gly) | |
X | g.31206612A>G | CA412649463 | DMD | c.4465T>C (p.Cys1489Arg) c.415T>C (p.Cys139Arg) n.417T>C c.2239T>C (p.Cys747Arg) n.1136T>C n.718T>C n.1137T>C n.3111T>C c.1474T>C (p.Cys492Arg) c.9619T>C (p.Cys3207Arg) c.5587T>C (p.Cys1863Arg) c.292T>C (p.Cys98Arg) c.358T>C (p.Cys120Arg) n.549T>C c.1432T>C (p.Cys478Arg) c.2707T>C (p.Cys903Arg) c.9607T>C (p.Cys3203Arg) c.9604T>C (p.Cys3202Arg) c.9616T>C (p.Cys3206Arg) c.9595T>C (p.Cys3199Arg) c.9250T>C (p.Cys3084Arg) c.5596T>C (p.Cys1866Arg) c.9490T>C (p.Cys3164Arg) c.9481T>C (p.Cys3161Arg) c.9496T>C (p.Cys3166Arg) c.3793T>C (p.Cys1265Arg) | dbSNP |
X | g.31206612A>T | CA412649464 | DMD | c.4465T>A (p.Cys1489Ser) c.415T>A (p.Cys139Ser) n.417T>A c.2239T>A (p.Cys747Ser) n.1136T>A n.718T>A n.1137T>A n.3111T>A c.1474T>A (p.Cys492Ser) c.9619T>A (p.Cys3207Ser) c.5587T>A (p.Cys1863Ser) c.292T>A (p.Cys98Ser) c.358T>A (p.Cys120Ser) n.549T>A c.1432T>A (p.Cys478Ser) c.2707T>A (p.Cys903Ser) c.9607T>A (p.Cys3203Ser) c.9604T>A (p.Cys3202Ser) c.9616T>A (p.Cys3206Ser) c.9595T>A (p.Cys3199Ser) c.9250T>A (p.Cys3084Ser) c.5596T>A (p.Cys1866Ser) c.9490T>A (p.Cys3164Ser) c.9481T>A (p.Cys3161Ser) c.9496T>A (p.Cys3166Ser) c.3793T>A (p.Cys1265Ser) | |
X | g.31206613del | CA2695232308 | DMD | c.4464del (p.Cys1489ValfsTer?) c.414del (p.Cys139ValfsTer?) n.416del c.2238del (p.Cys747ValfsTer?) n.1135del n.717del n.1136del n.3110del c.1473del (p.Cys492ValfsTer?) c.9618del (p.Cys3207ValfsTer?) c.5586del (p.Cys1863ValfsTer?) c.291del (p.Cys98ValfsTer?) c.357del (p.Cys120ValfsTer?) n.548del c.1431del (p.Cys478ValfsTer?) c.2706del (p.Cys903ValfsTer?) c.9606del (p.Cys3203ValfsTer?) c.9603del (p.Cys3202ValfsTer?) c.9615del (p.Cys3206ValfsTer?) c.9594del (p.Cys3199ValfsTer?) c.9249del (p.Cys3084ValfsTer?) c.5595del (p.Cys1866ValfsTer?) c.9489del (p.Cys3164ValfsTer?) c.9480del (p.Cys3161ValfsTer?) c.9495del (p.Cys3166ValfsTer?) c.3792del (p.Cys1265ValfsTer?) | |
X | g.31206613C>A | CA515857044 | DMD | c.4464G>T (p.Leu1488=) c.414G>T (p.Leu138=) n.416G>T c.2238G>T (p.Leu746=) n.1135G>T n.717G>T n.1136G>T n.3110G>T c.1473G>T (p.Leu491=) c.9618G>T (p.Leu3206=) c.5586G>T (p.Leu1862=) c.291G>T (p.Leu97=) c.357G>T (p.Leu119=) n.548G>T c.1431G>T (p.Leu477=) c.2706G>T (p.Leu902=) c.9606G>T (p.Leu3202=) c.9603G>T (p.Leu3201=) c.9615G>T (p.Leu3205=) c.9594G>T (p.Leu3198=) c.9249G>T (p.Leu3083=) c.5595G>T (p.Leu1865=) c.9489G>T (p.Leu3163=) c.9480G>T (p.Leu3160=) c.9495G>T (p.Leu3165=) c.3792G>T (p.Leu1264=) | |
X | g.31206613C>G | CA515857045 | DMD | c.4464G>C (p.Leu1488=) c.414G>C (p.Leu138=) n.416G>C c.2238G>C (p.Leu746=) n.1135G>C n.717G>C n.1136G>C n.3110G>C c.1473G>C (p.Leu491=) c.9618G>C (p.Leu3206=) c.5586G>C (p.Leu1862=) c.291G>C (p.Leu97=) c.357G>C (p.Leu119=) n.548G>C c.1431G>C (p.Leu477=) c.2706G>C (p.Leu902=) c.9606G>C (p.Leu3202=) c.9603G>C (p.Leu3201=) c.9615G>C (p.Leu3205=) c.9594G>C (p.Leu3198=) c.9249G>C (p.Leu3083=) c.5595G>C (p.Leu1865=) c.9489G>C (p.Leu3163=) c.9480G>C (p.Leu3160=) c.9495G>C (p.Leu3165=) c.3792G>C (p.Leu1264=) | |
X | g.31206613C>T | CA515857046 | DMD | c.4464G>A (p.Leu1488=) c.414G>A (p.Leu138=) n.416G>A c.2238G>A (p.Leu746=) n.1135G>A n.717G>A n.1136G>A n.3110G>A c.1473G>A (p.Leu491=) c.9618G>A (p.Leu3206=) c.5586G>A (p.Leu1862=) c.291G>A (p.Leu97=) c.357G>A (p.Leu119=) n.548G>A c.1431G>A (p.Leu477=) c.2706G>A (p.Leu902=) c.9606G>A (p.Leu3202=) c.9603G>A (p.Leu3201=) c.9615G>A (p.Leu3205=) c.9594G>A (p.Leu3198=) c.9249G>A (p.Leu3083=) c.5595G>A (p.Leu1865=) c.9489G>A (p.Leu3163=) c.9480G>A (p.Leu3160=) c.9495G>A (p.Leu3165=) c.3792G>A (p.Leu1264=) | gnomAD v4 |
X | g.31206614A>C | CA412649468 | DMD | c.4463T>G (p.Leu1488Arg) c.413T>G (p.Leu138Arg) n.415T>G c.2237T>G (p.Leu746Arg) n.1134T>G n.716T>G n.1135T>G n.3109T>G c.1472T>G (p.Leu491Arg) c.9617T>G (p.Leu3206Arg) c.5585T>G (p.Leu1862Arg) c.290T>G (p.Leu97Arg) c.356T>G (p.Leu119Arg) n.547T>G c.1430T>G (p.Leu477Arg) c.2705T>G (p.Leu902Arg) c.9605T>G (p.Leu3202Arg) c.9602T>G (p.Leu3201Arg) c.9614T>G (p.Leu3205Arg) c.9593T>G (p.Leu3198Arg) c.9248T>G (p.Leu3083Arg) c.5594T>G (p.Leu1865Arg) c.9488T>G (p.Leu3163Arg) c.9479T>G (p.Leu3160Arg) c.9494T>G (p.Leu3165Arg) c.3791T>G (p.Leu1264Arg) | ClinVar dbSNP |
X | g.31206614A>G | CA412649470 | DMD | c.4463T>C (p.Leu1488Pro) c.413T>C (p.Leu138Pro) n.415T>C c.2237T>C (p.Leu746Pro) n.1134T>C n.716T>C n.1135T>C n.3109T>C c.1472T>C (p.Leu491Pro) c.9617T>C (p.Leu3206Pro) c.5585T>C (p.Leu1862Pro) c.290T>C (p.Leu97Pro) c.356T>C (p.Leu119Pro) n.547T>C c.1430T>C (p.Leu477Pro) c.2705T>C (p.Leu902Pro) c.9605T>C (p.Leu3202Pro) c.9602T>C (p.Leu3201Pro) c.9614T>C (p.Leu3205Pro) c.9593T>C (p.Leu3198Pro) c.9248T>C (p.Leu3083Pro) c.5594T>C (p.Leu1865Pro) c.9488T>C (p.Leu3163Pro) c.9479T>C (p.Leu3160Pro) c.9494T>C (p.Leu3165Pro) c.3791T>C (p.Leu1264Pro) | |
X | g.31206614A>T | CA412649471 | DMD | c.4463T>A (p.Leu1488Gln) c.413T>A (p.Leu138Gln) n.415T>A c.2237T>A (p.Leu746Gln) n.1134T>A n.716T>A n.1135T>A n.3109T>A c.1472T>A (p.Leu491Gln) c.9617T>A (p.Leu3206Gln) c.5585T>A (p.Leu1862Gln) c.290T>A (p.Leu97Gln) c.356T>A (p.Leu119Gln) n.547T>A c.1430T>A (p.Leu477Gln) c.2705T>A (p.Leu902Gln) c.9605T>A (p.Leu3202Gln) c.9602T>A (p.Leu3201Gln) c.9614T>A (p.Leu3205Gln) c.9593T>A (p.Leu3198Gln) c.9248T>A (p.Leu3083Gln) c.5594T>A (p.Leu1865Gln) c.9488T>A (p.Leu3163Gln) c.9479T>A (p.Leu3160Gln) c.9494T>A (p.Leu3165Gln) c.3791T>A (p.Leu1264Gln) | |
X | g.31206615G>A | CA515857047 | DMD | c.4462C>T (p.Leu1488=) c.412C>T (p.Leu138=) n.414C>T c.2236C>T (p.Leu746=) n.1133C>T n.715C>T n.1134C>T n.3108C>T c.1471C>T (p.Leu491=) c.9616C>T (p.Leu3206=) c.5584C>T (p.Leu1862=) c.289C>T (p.Leu97=) c.355C>T (p.Leu119=) n.546C>T c.1429C>T (p.Leu477=) c.2704C>T (p.Leu902=) c.9604C>T (p.Leu3202=) c.9601C>T (p.Leu3201=) c.9613C>T (p.Leu3205=) c.9592C>T (p.Leu3198=) c.9247C>T (p.Leu3083=) c.5593C>T (p.Leu1865=) c.9487C>T (p.Leu3163=) c.9478C>T (p.Leu3160=) c.9493C>T (p.Leu3165=) c.3790C>T (p.Leu1264=) | ClinVar |
X | g.31206615G>C | CA412649473 | DMD | c.4462C>G (p.Leu1488Val) c.412C>G (p.Leu138Val) n.414C>G c.2236C>G (p.Leu746Val) n.1133C>G n.715C>G n.1134C>G n.3108C>G c.1471C>G (p.Leu491Val) c.9616C>G (p.Leu3206Val) c.5584C>G (p.Leu1862Val) c.289C>G (p.Leu97Val) c.355C>G (p.Leu119Val) n.546C>G c.1429C>G (p.Leu477Val) c.2704C>G (p.Leu902Val) c.9604C>G (p.Leu3202Val) c.9601C>G (p.Leu3201Val) c.9613C>G (p.Leu3205Val) c.9592C>G (p.Leu3198Val) c.9247C>G (p.Leu3083Val) c.5593C>G (p.Leu1865Val) c.9487C>G (p.Leu3163Val) c.9478C>G (p.Leu3160Val) c.9493C>G (p.Leu3165Val) c.3790C>G (p.Leu1264Val) | |
X | g.31206615G>T | CA412649474 | DMD | c.4462C>A (p.Leu1488Met) c.412C>A (p.Leu138Met) n.414C>A c.2236C>A (p.Leu746Met) n.1133C>A n.715C>A n.1134C>A n.3108C>A c.1471C>A (p.Leu491Met) c.9616C>A (p.Leu3206Met) c.5584C>A (p.Leu1862Met) c.289C>A (p.Leu97Met) c.355C>A (p.Leu119Met) n.546C>A c.1429C>A (p.Leu477Met) c.2704C>A (p.Leu902Met) c.9604C>A (p.Leu3202Met) c.9601C>A (p.Leu3201Met) c.9613C>A (p.Leu3205Met) c.9592C>A (p.Leu3198Met) c.9247C>A (p.Leu3083Met) c.5593C>A (p.Leu1865Met) c.9487C>A (p.Leu3163Met) c.9478C>A (p.Leu3160Met) c.9493C>A (p.Leu3165Met) c.3790C>A (p.Leu1264Met) | |
X | g.31206616G>A | CA515857049 | DMD | c.4461C>T (p.Ser1487=) c.411C>T (p.Ser137=) n.413C>T c.2235C>T (p.Ser745=) n.1132C>T n.714C>T n.1133C>T n.3107C>T c.1470C>T (p.Ser490=) c.9615C>T (p.Ser3205=) c.5583C>T (p.Ser1861=) c.288C>T (p.Ser96=) c.354C>T (p.Ser118=) n.545C>T c.1428C>T (p.Ser476=) c.2703C>T (p.Ser901=) c.9603C>T (p.Ser3201=) c.9600C>T (p.Ser3200=) c.9612C>T (p.Ser3204=) c.9591C>T (p.Ser3197=) c.9246C>T (p.Ser3082=) c.5592C>T (p.Ser1864=) c.9486C>T (p.Ser3162=) c.9477C>T (p.Ser3159=) c.9492C>T (p.Ser3164=) c.3789C>T (p.Ser1263=) | |
X | g.31206616G>C | CA515857050 | DMD | c.4461C>G (p.Ser1487=) c.411C>G (p.Ser137=) n.413C>G c.2235C>G (p.Ser745=) n.1132C>G n.714C>G n.1133C>G n.3107C>G c.1470C>G (p.Ser490=) c.9615C>G (p.Ser3205=) c.5583C>G (p.Ser1861=) c.288C>G (p.Ser96=) c.354C>G (p.Ser118=) n.545C>G c.1428C>G (p.Ser476=) c.2703C>G (p.Ser901=) c.9603C>G (p.Ser3201=) c.9600C>G (p.Ser3200=) c.9612C>G (p.Ser3204=) c.9591C>G (p.Ser3197=) c.9246C>G (p.Ser3082=) c.5592C>G (p.Ser1864=) c.9486C>G (p.Ser3162=) c.9477C>G (p.Ser3159=) c.9492C>G (p.Ser3164=) c.3789C>G (p.Ser1263=) | |
X | g.31206616G>T | CA515857051 | DMD | c.4461C>A (p.Ser1487=) c.411C>A (p.Ser137=) n.413C>A c.2235C>A (p.Ser745=) n.1132C>A n.714C>A n.1133C>A n.3107C>A c.1470C>A (p.Ser490=) c.9615C>A (p.Ser3205=) c.5583C>A (p.Ser1861=) c.288C>A (p.Ser96=) c.354C>A (p.Ser118=) n.545C>A c.1428C>A (p.Ser476=) c.2703C>A (p.Ser901=) c.9603C>A (p.Ser3201=) c.9600C>A (p.Ser3200=) c.9612C>A (p.Ser3204=) c.9591C>A (p.Ser3197=) c.9246C>A (p.Ser3082=) c.5592C>A (p.Ser1864=) c.9486C>A (p.Ser3162=) c.9477C>A (p.Ser3159=) c.9492C>A (p.Ser3164=) c.3789C>A (p.Ser1263=) | |
X | g.31206617G>A | CA412649475 | DMD | c.4460C>T (p.Ser1487Phe) c.410C>T (p.Ser137Phe) n.412C>T c.2234C>T (p.Ser745Phe) n.1131C>T n.713C>T n.1132C>T n.3106C>T c.1469C>T (p.Ser490Phe) c.9614C>T (p.Ser3205Phe) c.5582C>T (p.Ser1861Phe) c.287C>T (p.Ser96Phe) c.353C>T (p.Ser118Phe) n.544C>T c.1427C>T (p.Ser476Phe) c.2702C>T (p.Ser901Phe) c.9602C>T (p.Ser3201Phe) c.9599C>T (p.Ser3200Phe) c.9611C>T (p.Ser3204Phe) c.9590C>T (p.Ser3197Phe) c.9245C>T (p.Ser3082Phe) c.5591C>T (p.Ser1864Phe) c.9485C>T (p.Ser3162Phe) c.9476C>T (p.Ser3159Phe) c.9491C>T (p.Ser3164Phe) c.3788C>T (p.Ser1263Phe) | |
X | g.31206617G>C | CA412649478 | DMD | c.4460C>G (p.Ser1487Cys) c.410C>G (p.Ser137Cys) n.412C>G c.2234C>G (p.Ser745Cys) n.1131C>G n.713C>G n.1132C>G n.3106C>G c.1469C>G (p.Ser490Cys) c.9614C>G (p.Ser3205Cys) c.5582C>G (p.Ser1861Cys) c.287C>G (p.Ser96Cys) c.353C>G (p.Ser118Cys) n.544C>G c.1427C>G (p.Ser476Cys) c.2702C>G (p.Ser901Cys) c.9602C>G (p.Ser3201Cys) c.9599C>G (p.Ser3200Cys) c.9611C>G (p.Ser3204Cys) c.9590C>G (p.Ser3197Cys) c.9245C>G (p.Ser3082Cys) c.5591C>G (p.Ser1864Cys) c.9485C>G (p.Ser3162Cys) c.9476C>G (p.Ser3159Cys) c.9491C>G (p.Ser3164Cys) c.3788C>G (p.Ser1263Cys) | |
X | g.31206617G= | CA2422348456 | DMD | c.4460C= (p.Ser1487=) c.410C= (p.Ser137=) n.412C= c.2234C= (p.Ser745=) n.1131C= n.713C= n.1132C= n.3106C= c.1469C= (p.Ser490=) c.9614C= (p.Ser3205=) c.5582C= (p.Ser1861=) c.287C= (p.Ser96=) c.353C= (p.Ser118=) n.544C= c.1427C= (p.Ser476=) c.2702C= (p.Ser901=) c.9602C= (p.Ser3201=) c.9599C= (p.Ser3200=) c.9611C= (p.Ser3204=) c.9590C= (p.Ser3197=) c.9245C= (p.Ser3082=) c.5591C= (p.Ser1864=) c.9485C= (p.Ser3162=) c.9476C= (p.Ser3159=) c.9491C= (p.Ser3164=) c.3788C= (p.Ser1263=) | |
X | g.31206617G>T | CA412649476 | DMD | c.4460C>A (p.Ser1487Tyr) c.410C>A (p.Ser137Tyr) n.412C>A c.2234C>A (p.Ser745Tyr) n.1131C>A n.713C>A n.1132C>A n.3106C>A c.1469C>A (p.Ser490Tyr) c.9614C>A (p.Ser3205Tyr) c.5582C>A (p.Ser1861Tyr) c.287C>A (p.Ser96Tyr) c.353C>A (p.Ser118Tyr) n.544C>A c.1427C>A (p.Ser476Tyr) c.2702C>A (p.Ser901Tyr) c.9602C>A (p.Ser3201Tyr) c.9599C>A (p.Ser3200Tyr) c.9611C>A (p.Ser3204Tyr) c.9590C>A (p.Ser3197Tyr) c.9245C>A (p.Ser3082Tyr) c.5591C>A (p.Ser1864Tyr) c.9485C>A (p.Ser3162Tyr) c.9476C>A (p.Ser3159Tyr) c.9491C>A (p.Ser3164Tyr) c.3788C>A (p.Ser1263Tyr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.31206618A>C | CA412649479 | DMD | c.4459T>G (p.Ser1487Ala) c.409T>G (p.Ser137Ala) n.411T>G c.2233T>G (p.Ser745Ala) n.1130T>G n.712T>G n.1131T>G n.3105T>G c.1468T>G (p.Ser490Ala) c.9613T>G (p.Ser3205Ala) c.5581T>G (p.Ser1861Ala) c.286T>G (p.Ser96Ala) c.352T>G (p.Ser118Ala) n.543T>G c.1426T>G (p.Ser476Ala) c.2701T>G (p.Ser901Ala) c.9601T>G (p.Ser3201Ala) c.9598T>G (p.Ser3200Ala) c.9610T>G (p.Ser3204Ala) c.9589T>G (p.Ser3197Ala) c.9244T>G (p.Ser3082Ala) c.5590T>G (p.Ser1864Ala) c.9484T>G (p.Ser3162Ala) c.9475T>G (p.Ser3159Ala) c.9490T>G (p.Ser3164Ala) c.3787T>G (p.Ser1263Ala) | |
X | g.31206618A>G | CA412649480 | DMD | c.4459T>C (p.Ser1487Pro) c.409T>C (p.Ser137Pro) n.411T>C c.2233T>C (p.Ser745Pro) n.1130T>C n.712T>C n.1131T>C n.3105T>C c.1468T>C (p.Ser490Pro) c.9613T>C (p.Ser3205Pro) c.5581T>C (p.Ser1861Pro) c.286T>C (p.Ser96Pro) c.352T>C (p.Ser118Pro) n.543T>C c.1426T>C (p.Ser476Pro) c.2701T>C (p.Ser901Pro) c.9601T>C (p.Ser3201Pro) c.9598T>C (p.Ser3200Pro) c.9610T>C (p.Ser3204Pro) c.9589T>C (p.Ser3197Pro) c.9244T>C (p.Ser3082Pro) c.5590T>C (p.Ser1864Pro) c.9484T>C (p.Ser3162Pro) c.9475T>C (p.Ser3159Pro) c.9490T>C (p.Ser3164Pro) c.3787T>C (p.Ser1263Pro) | |
X | g.31206618A>T | CA412649483 | DMD | c.4459T>A (p.Ser1487Thr) c.409T>A (p.Ser137Thr) n.411T>A c.2233T>A (p.Ser745Thr) n.1130T>A n.712T>A n.1131T>A n.3105T>A c.1468T>A (p.Ser490Thr) c.9613T>A (p.Ser3205Thr) c.5581T>A (p.Ser1861Thr) c.286T>A (p.Ser96Thr) c.352T>A (p.Ser118Thr) n.543T>A c.1426T>A (p.Ser476Thr) c.2701T>A (p.Ser901Thr) c.9601T>A (p.Ser3201Thr) c.9598T>A (p.Ser3200Thr) c.9610T>A (p.Ser3204Thr) c.9589T>A (p.Ser3197Thr) c.9244T>A (p.Ser3082Thr) c.5590T>A (p.Ser1864Thr) c.9484T>A (p.Ser3162Thr) c.9475T>A (p.Ser3159Thr) c.9490T>A (p.Ser3164Thr) c.3787T>A (p.Ser1263Thr) | |
X | g.31206619A>C | CA412649484 | DMD | c.4458T>G (p.Ile1486Met) c.408T>G (p.Ile136Met) n.410T>G c.2232T>G (p.Ile744Met) n.1129T>G n.711T>G n.1130T>G n.3104T>G c.1467T>G (p.Ile489Met) c.9612T>G (p.Ile3204Met) c.5580T>G (p.Ile1860Met) c.285T>G (p.Ile95Met) c.351T>G (p.Ile117Met) n.542T>G c.1425T>G (p.Ile475Met) c.2700T>G (p.Ile900Met) c.9600T>G (p.Ile3200Met) c.9597T>G (p.Ile3199Met) c.9609T>G (p.Ile3203Met) c.9588T>G (p.Ile3196Met) c.9243T>G (p.Ile3081Met) c.5589T>G (p.Ile1863Met) c.9483T>G (p.Ile3161Met) c.9474T>G (p.Ile3158Met) c.9489T>G (p.Ile3163Met) c.3786T>G (p.Ile1262Met) | |
X | g.31206619A>G | CA515857054 | DMD | c.4458T>C (p.Ile1486=) c.408T>C (p.Ile136=) n.410T>C c.2232T>C (p.Ile744=) n.1129T>C n.711T>C n.1130T>C n.3104T>C c.1467T>C (p.Ile489=) c.9612T>C (p.Ile3204=) c.5580T>C (p.Ile1860=) c.285T>C (p.Ile95=) c.351T>C (p.Ile117=) n.542T>C c.1425T>C (p.Ile475=) c.2700T>C (p.Ile900=) c.9600T>C (p.Ile3200=) c.9597T>C (p.Ile3199=) c.9609T>C (p.Ile3203=) c.9588T>C (p.Ile3196=) c.9243T>C (p.Ile3081=) c.5589T>C (p.Ile1863=) c.9483T>C (p.Ile3161=) c.9474T>C (p.Ile3158=) c.9489T>C (p.Ile3163=) c.3786T>C (p.Ile1262=) | |
X | g.31206619A>T | CA515857056 | DMD | c.4458T>A (p.Ile1486=) c.408T>A (p.Ile136=) n.410T>A c.2232T>A (p.Ile744=) n.1129T>A n.711T>A n.1130T>A n.3104T>A c.1467T>A (p.Ile489=) c.9612T>A (p.Ile3204=) c.5580T>A (p.Ile1860=) c.285T>A (p.Ile95=) c.351T>A (p.Ile117=) n.542T>A c.1425T>A (p.Ile475=) c.2700T>A (p.Ile900=) c.9600T>A (p.Ile3200=) c.9597T>A (p.Ile3199=) c.9609T>A (p.Ile3203=) c.9588T>A (p.Ile3196=) c.9243T>A (p.Ile3081=) c.5589T>A (p.Ile1863=) c.9483T>A (p.Ile3161=) c.9474T>A (p.Ile3158=) c.9489T>A (p.Ile3163=) c.3786T>A (p.Ile1262=) | gnomAD v4 |
X | g.31206620A>C | CA412649485 | DMD | c.4457T>G (p.Ile1486Ser) c.407T>G (p.Ile136Ser) n.409T>G c.2231T>G (p.Ile744Ser) n.1128T>G n.710T>G n.1129T>G n.3103T>G c.1466T>G (p.Ile489Ser) c.9611T>G (p.Ile3204Ser) c.5579T>G (p.Ile1860Ser) c.284T>G (p.Ile95Ser) c.350T>G (p.Ile117Ser) n.541T>G c.1424T>G (p.Ile475Ser) c.2699T>G (p.Ile900Ser) c.9599T>G (p.Ile3200Ser) c.9596T>G (p.Ile3199Ser) c.9608T>G (p.Ile3203Ser) c.9587T>G (p.Ile3196Ser) c.9242T>G (p.Ile3081Ser) c.5588T>G (p.Ile1863Ser) c.9482T>G (p.Ile3161Ser) c.9473T>G (p.Ile3158Ser) c.9488T>G (p.Ile3163Ser) c.3785T>G (p.Ile1262Ser) | |
X | g.31206620A>G | CA412649486 | DMD | c.4457T>C (p.Ile1486Thr) c.407T>C (p.Ile136Thr) n.409T>C c.2231T>C (p.Ile744Thr) n.1128T>C n.710T>C n.1129T>C n.3103T>C c.1466T>C (p.Ile489Thr) c.9611T>C (p.Ile3204Thr) c.5579T>C (p.Ile1860Thr) c.284T>C (p.Ile95Thr) c.350T>C (p.Ile117Thr) n.541T>C c.1424T>C (p.Ile475Thr) c.2699T>C (p.Ile900Thr) c.9599T>C (p.Ile3200Thr) c.9596T>C (p.Ile3199Thr) c.9608T>C (p.Ile3203Thr) c.9587T>C (p.Ile3196Thr) c.9242T>C (p.Ile3081Thr) c.5588T>C (p.Ile1863Thr) c.9482T>C (p.Ile3161Thr) c.9473T>C (p.Ile3158Thr) c.9488T>C (p.Ile3163Thr) c.3785T>C (p.Ile1262Thr) | |
X | g.31206620A>T | CA412649487 | DMD | c.4457T>A (p.Ile1486Asn) c.407T>A (p.Ile136Asn) n.409T>A c.2231T>A (p.Ile744Asn) n.1128T>A n.710T>A n.1129T>A n.3103T>A c.1466T>A (p.Ile489Asn) c.9611T>A (p.Ile3204Asn) c.5579T>A (p.Ile1860Asn) c.284T>A (p.Ile95Asn) c.350T>A (p.Ile117Asn) n.541T>A c.1424T>A (p.Ile475Asn) c.2699T>A (p.Ile900Asn) c.9599T>A (p.Ile3200Asn) c.9596T>A (p.Ile3199Asn) c.9608T>A (p.Ile3203Asn) c.9587T>A (p.Ile3196Asn) c.9242T>A (p.Ile3081Asn) c.5588T>A (p.Ile1863Asn) c.9482T>A (p.Ile3161Asn) c.9473T>A (p.Ile3158Asn) c.9488T>A (p.Ile3163Asn) c.3785T>A (p.Ile1262Asn) | |
X | g.31206621T>A | CA412649488 | DMD | c.4456A>T (p.Ile1486Phe) c.406A>T (p.Ile136Phe) n.408A>T c.2230A>T (p.Ile744Phe) n.1127A>T n.709A>T n.1128A>T n.3102A>T c.1465A>T (p.Ile489Phe) c.9610A>T (p.Ile3204Phe) c.5578A>T (p.Ile1860Phe) c.283A>T (p.Ile95Phe) c.349A>T (p.Ile117Phe) n.540A>T c.1423A>T (p.Ile475Phe) c.2698A>T (p.Ile900Phe) c.9598A>T (p.Ile3200Phe) c.9595A>T (p.Ile3199Phe) c.9607A>T (p.Ile3203Phe) c.9586A>T (p.Ile3196Phe) c.9241A>T (p.Ile3081Phe) c.5587A>T (p.Ile1863Phe) c.9481A>T (p.Ile3161Phe) c.9472A>T (p.Ile3158Phe) c.9487A>T (p.Ile3163Phe) c.3784A>T (p.Ile1262Phe) | |
X | g.31206621T>C | CA412649490 | DMD | c.4456A>G (p.Ile1486Val) c.406A>G (p.Ile136Val) n.408A>G c.2230A>G (p.Ile744Val) n.1127A>G n.709A>G n.1128A>G n.3102A>G c.1465A>G (p.Ile489Val) c.9610A>G (p.Ile3204Val) c.5578A>G (p.Ile1860Val) c.283A>G (p.Ile95Val) c.349A>G (p.Ile117Val) n.540A>G c.1423A>G (p.Ile475Val) c.2698A>G (p.Ile900Val) c.9598A>G (p.Ile3200Val) c.9595A>G (p.Ile3199Val) c.9607A>G (p.Ile3203Val) c.9586A>G (p.Ile3196Val) c.9241A>G (p.Ile3081Val) c.5587A>G (p.Ile1863Val) c.9481A>G (p.Ile3161Val) c.9472A>G (p.Ile3158Val) c.9487A>G (p.Ile3163Val) c.3784A>G (p.Ile1262Val) | |
X | g.31206621T>G | CA412649492 | DMD | c.4456A>C (p.Ile1486Leu) c.406A>C (p.Ile136Leu) n.408A>C c.2230A>C (p.Ile744Leu) n.1127A>C n.709A>C n.1128A>C n.3102A>C c.1465A>C (p.Ile489Leu) c.9610A>C (p.Ile3204Leu) c.5578A>C (p.Ile1860Leu) c.283A>C (p.Ile95Leu) c.349A>C (p.Ile117Leu) n.540A>C c.1423A>C (p.Ile475Leu) c.2698A>C (p.Ile900Leu) c.9598A>C (p.Ile3200Leu) c.9595A>C (p.Ile3199Leu) c.9607A>C (p.Ile3203Leu) c.9586A>C (p.Ile3196Leu) c.9241A>C (p.Ile3081Leu) c.5587A>C (p.Ile1863Leu) c.9481A>C (p.Ile3161Leu) c.9472A>C (p.Ile3158Leu) c.9487A>C (p.Ile3163Leu) c.3784A>C (p.Ile1262Leu) | |
X | g.31206622G>A | CA515857057 | DMD | c.4455C>T (p.Ile1485=) c.405C>T (p.Ile135=) n.407C>T c.2229C>T (p.Ile743=) n.1126C>T n.708C>T n.1127C>T n.3101C>T c.1464C>T (p.Ile488=) c.9609C>T (p.Ile3203=) c.5577C>T (p.Ile1859=) c.282C>T (p.Ile94=) c.348C>T (p.Ile116=) n.539C>T c.1422C>T (p.Ile474=) c.2697C>T (p.Ile899=) c.9597C>T (p.Ile3199=) c.9594C>T (p.Ile3198=) c.9606C>T (p.Ile3202=) c.9585C>T (p.Ile3195=) c.9240C>T (p.Ile3080=) c.5586C>T (p.Ile1862=) c.9480C>T (p.Ile3160=) c.9471C>T (p.Ile3157=) c.9486C>T (p.Ile3162=) c.3783C>T (p.Ile1261=) | |
X | g.31206622G>C | CA412649494 | DMD | c.4455C>G (p.Ile1485Met) c.405C>G (p.Ile135Met) n.407C>G c.2229C>G (p.Ile743Met) n.1126C>G n.708C>G n.1127C>G n.3101C>G c.1464C>G (p.Ile488Met) c.9609C>G (p.Ile3203Met) c.5577C>G (p.Ile1859Met) c.282C>G (p.Ile94Met) c.348C>G (p.Ile116Met) n.539C>G c.1422C>G (p.Ile474Met) c.2697C>G (p.Ile899Met) c.9597C>G (p.Ile3199Met) c.9594C>G (p.Ile3198Met) c.9606C>G (p.Ile3202Met) c.9585C>G (p.Ile3195Met) c.9240C>G (p.Ile3080Met) c.5586C>G (p.Ile1862Met) c.9480C>G (p.Ile3160Met) c.9471C>G (p.Ile3157Met) c.9486C>G (p.Ile3162Met) c.3783C>G (p.Ile1261Met) | |
X | g.31206622G>T | CA515857058 | DMD | c.4455C>A (p.Ile1485=) c.405C>A (p.Ile135=) n.407C>A c.2229C>A (p.Ile743=) n.1126C>A n.708C>A n.1127C>A n.3101C>A c.1464C>A (p.Ile488=) c.9609C>A (p.Ile3203=) c.5577C>A (p.Ile1859=) c.282C>A (p.Ile94=) c.348C>A (p.Ile116=) n.539C>A c.1422C>A (p.Ile474=) c.2697C>A (p.Ile899=) c.9597C>A (p.Ile3199=) c.9594C>A (p.Ile3198=) c.9606C>A (p.Ile3202=) c.9585C>A (p.Ile3195=) c.9240C>A (p.Ile3080=) c.5586C>A (p.Ile1862=) c.9480C>A (p.Ile3160=) c.9471C>A (p.Ile3157=) c.9486C>A (p.Ile3162=) c.3783C>A (p.Ile1261=) | |
X | g.31206623A>C | CA412649497 | DMD | c.4454T>G (p.Ile1485Ser) c.404T>G (p.Ile135Ser) n.406T>G c.2228T>G (p.Ile743Ser) n.1125T>G n.707T>G n.1126T>G n.3100T>G c.1463T>G (p.Ile488Ser) c.9608T>G (p.Ile3203Ser) c.5576T>G (p.Ile1859Ser) c.281T>G (p.Ile94Ser) c.347T>G (p.Ile116Ser) n.538T>G c.1421T>G (p.Ile474Ser) c.2696T>G (p.Ile899Ser) c.9596T>G (p.Ile3199Ser) c.9593T>G (p.Ile3198Ser) c.9605T>G (p.Ile3202Ser) c.9584T>G (p.Ile3195Ser) c.9239T>G (p.Ile3080Ser) c.5585T>G (p.Ile1862Ser) c.9479T>G (p.Ile3160Ser) c.9470T>G (p.Ile3157Ser) c.9485T>G (p.Ile3162Ser) c.3782T>G (p.Ile1261Ser) | |
X | g.31206623A>G | CA412649499 | DMD | c.4454T>C (p.Ile1485Thr) c.404T>C (p.Ile135Thr) n.406T>C c.2228T>C (p.Ile743Thr) n.1125T>C n.707T>C n.1126T>C n.3100T>C c.1463T>C (p.Ile488Thr) c.9608T>C (p.Ile3203Thr) c.5576T>C (p.Ile1859Thr) c.281T>C (p.Ile94Thr) c.347T>C (p.Ile116Thr) n.538T>C c.1421T>C (p.Ile474Thr) c.2696T>C (p.Ile899Thr) c.9596T>C (p.Ile3199Thr) c.9593T>C (p.Ile3198Thr) c.9605T>C (p.Ile3202Thr) c.9584T>C (p.Ile3195Thr) c.9239T>C (p.Ile3080Thr) c.5585T>C (p.Ile1862Thr) c.9479T>C (p.Ile3160Thr) c.9470T>C (p.Ile3157Thr) c.9485T>C (p.Ile3162Thr) c.3782T>C (p.Ile1261Thr) | |
X | g.31206623A>T | CA412649495 | DMD | c.4454T>A (p.Ile1485Asn) c.404T>A (p.Ile135Asn) n.406T>A c.2228T>A (p.Ile743Asn) n.1125T>A n.707T>A n.1126T>A n.3100T>A c.1463T>A (p.Ile488Asn) c.9608T>A (p.Ile3203Asn) c.5576T>A (p.Ile1859Asn) c.281T>A (p.Ile94Asn) c.347T>A (p.Ile116Asn) n.538T>A c.1421T>A (p.Ile474Asn) c.2696T>A (p.Ile899Asn) c.9596T>A (p.Ile3199Asn) c.9593T>A (p.Ile3198Asn) c.9605T>A (p.Ile3202Asn) c.9584T>A (p.Ile3195Asn) c.9239T>A (p.Ile3080Asn) c.5585T>A (p.Ile1862Asn) c.9479T>A (p.Ile3160Asn) c.9470T>A (p.Ile3157Asn) c.9485T>A (p.Ile3162Asn) c.3782T>A (p.Ile1261Asn) | |
X | g.31206624T>A | CA412649504 | DMD | c.4453A>T (p.Ile1485Phe) c.403A>T (p.Ile135Phe) n.405A>T c.2227A>T (p.Ile743Phe) n.1124A>T n.706A>T n.1125A>T n.3099A>T c.1462A>T (p.Ile488Phe) c.9607A>T (p.Ile3203Phe) c.5575A>T (p.Ile1859Phe) c.280A>T (p.Ile94Phe) c.346A>T (p.Ile116Phe) n.537A>T c.1420A>T (p.Ile474Phe) c.2695A>T (p.Ile899Phe) c.9595A>T (p.Ile3199Phe) c.9592A>T (p.Ile3198Phe) c.9604A>T (p.Ile3202Phe) c.9583A>T (p.Ile3195Phe) c.9238A>T (p.Ile3080Phe) c.5584A>T (p.Ile1862Phe) c.9478A>T (p.Ile3160Phe) c.9469A>T (p.Ile3157Phe) c.9484A>T (p.Ile3162Phe) c.3781A>T (p.Ile1261Phe) | |
X | g.31206624T>C | CA412649500 | DMD | c.4453A>G (p.Ile1485Val) c.403A>G (p.Ile135Val) n.405A>G c.2227A>G (p.Ile743Val) n.1124A>G n.706A>G n.1125A>G n.3099A>G c.1462A>G (p.Ile488Val) c.9607A>G (p.Ile3203Val) c.5575A>G (p.Ile1859Val) c.280A>G (p.Ile94Val) c.346A>G (p.Ile116Val) n.537A>G c.1420A>G (p.Ile474Val) c.2695A>G (p.Ile899Val) c.9595A>G (p.Ile3199Val) c.9592A>G (p.Ile3198Val) c.9604A>G (p.Ile3202Val) c.9583A>G (p.Ile3195Val) c.9238A>G (p.Ile3080Val) c.5584A>G (p.Ile1862Val) c.9478A>G (p.Ile3160Val) c.9469A>G (p.Ile3157Val) c.9484A>G (p.Ile3162Val) c.3781A>G (p.Ile1261Val) | |
X | g.31206624T>G | CA412649502 | DMD | c.4453A>C (p.Ile1485Leu) c.403A>C (p.Ile135Leu) n.405A>C c.2227A>C (p.Ile743Leu) n.1124A>C n.706A>C n.1125A>C n.3099A>C c.1462A>C (p.Ile488Leu) c.9607A>C (p.Ile3203Leu) c.5575A>C (p.Ile1859Leu) c.280A>C (p.Ile94Leu) c.346A>C (p.Ile116Leu) n.537A>C c.1420A>C (p.Ile474Leu) c.2695A>C (p.Ile899Leu) c.9595A>C (p.Ile3199Leu) c.9592A>C (p.Ile3198Leu) c.9604A>C (p.Ile3202Leu) c.9583A>C (p.Ile3195Leu) c.9238A>C (p.Ile3080Leu) c.5584A>C (p.Ile1862Leu) c.9478A>C (p.Ile3160Leu) c.9469A>C (p.Ile3157Leu) c.9484A>C (p.Ile3162Leu) c.3781A>C (p.Ile1261Leu) | |
X | g.31206625G>A | CA515857059 | DMD | c.4452C>T (p.Gly1484=) c.402C>T (p.Gly134=) n.404C>T c.2226C>T (p.Gly742=) n.1123C>T n.705C>T n.1124C>T n.3098C>T c.1461C>T (p.Gly487=) c.9606C>T (p.Gly3202=) c.5574C>T (p.Gly1858=) c.279C>T (p.Gly93=) c.345C>T (p.Gly115=) n.536C>T c.1419C>T (p.Gly473=) c.2694C>T (p.Gly898=) c.9594C>T (p.Gly3198=) c.9591C>T (p.Gly3197=) c.9603C>T (p.Gly3201=) c.9582C>T (p.Gly3194=) c.9237C>T (p.Gly3079=) c.5583C>T (p.Gly1861=) c.9477C>T (p.Gly3159=) c.9468C>T (p.Gly3156=) c.9483C>T (p.Gly3161=) c.3780C>T (p.Gly1260=) | |
X | g.31206625G>C | CA515857060 | DMD | c.4452C>G (p.Gly1484=) c.402C>G (p.Gly134=) n.404C>G c.2226C>G (p.Gly742=) n.1123C>G n.705C>G n.1124C>G n.3098C>G c.1461C>G (p.Gly487=) c.9606C>G (p.Gly3202=) c.5574C>G (p.Gly1858=) c.279C>G (p.Gly93=) c.345C>G (p.Gly115=) n.536C>G c.1419C>G (p.Gly473=) c.2694C>G (p.Gly898=) c.9594C>G (p.Gly3198=) c.9591C>G (p.Gly3197=) c.9603C>G (p.Gly3201=) c.9582C>G (p.Gly3194=) c.9237C>G (p.Gly3079=) c.5583C>G (p.Gly1861=) c.9477C>G (p.Gly3159=) c.9468C>G (p.Gly3156=) c.9483C>G (p.Gly3161=) c.3780C>G (p.Gly1260=) | |
X | g.31206625G>T | CA515857061 | DMD | c.4452C>A (p.Gly1484=) c.402C>A (p.Gly134=) n.404C>A c.2226C>A (p.Gly742=) n.1123C>A n.705C>A n.1124C>A n.3098C>A c.1461C>A (p.Gly487=) c.9606C>A (p.Gly3202=) c.5574C>A (p.Gly1858=) c.279C>A (p.Gly93=) c.345C>A (p.Gly115=) n.536C>A c.1419C>A (p.Gly473=) c.2694C>A (p.Gly898=) c.9594C>A (p.Gly3198=) c.9591C>A (p.Gly3197=) c.9603C>A (p.Gly3201=) c.9582C>A (p.Gly3194=) c.9237C>A (p.Gly3079=) c.5583C>A (p.Gly1861=) c.9477C>A (p.Gly3159=) c.9468C>A (p.Gly3156=) c.9483C>A (p.Gly3161=) c.3780C>A (p.Gly1260=) | |
X | g.31206626C>A | CA412649506 | DMD | c.4451G>T (p.Gly1484Val) c.401G>T (p.Gly134Val) n.403G>T c.2225G>T (p.Gly742Val) n.1122G>T n.704G>T n.1123G>T n.3097G>T c.1460G>T (p.Gly487Val) c.9605G>T (p.Gly3202Val) c.5573G>T (p.Gly1858Val) c.278G>T (p.Gly93Val) c.344G>T (p.Gly115Val) n.535G>T c.1418G>T (p.Gly473Val) c.2693G>T (p.Gly898Val) c.9593G>T (p.Gly3198Val) c.9590G>T (p.Gly3197Val) c.9602G>T (p.Gly3201Val) c.9581G>T (p.Gly3194Val) c.9236G>T (p.Gly3079Val) c.5582G>T (p.Gly1861Val) c.9476G>T (p.Gly3159Val) c.9467G>T (p.Gly3156Val) c.9482G>T (p.Gly3161Val) c.3779G>T (p.Gly1260Val) | |
X | g.31206626C>G | CA412649507 | DMD | c.4451G>C (p.Gly1484Ala) c.401G>C (p.Gly134Ala) n.403G>C c.2225G>C (p.Gly742Ala) n.1122G>C n.704G>C n.1123G>C n.3097G>C c.1460G>C (p.Gly487Ala) c.9605G>C (p.Gly3202Ala) c.5573G>C (p.Gly1858Ala) c.278G>C (p.Gly93Ala) c.344G>C (p.Gly115Ala) n.535G>C c.1418G>C (p.Gly473Ala) c.2693G>C (p.Gly898Ala) c.9593G>C (p.Gly3198Ala) c.9590G>C (p.Gly3197Ala) c.9602G>C (p.Gly3201Ala) c.9581G>C (p.Gly3194Ala) c.9236G>C (p.Gly3079Ala) c.5582G>C (p.Gly1861Ala) c.9476G>C (p.Gly3159Ala) c.9467G>C (p.Gly3156Ala) c.9482G>C (p.Gly3161Ala) c.3779G>C (p.Gly1260Ala) | |
X | g.31206626C>T | CA412649509 | DMD | c.4451G>A (p.Gly1484Asp) c.401G>A (p.Gly134Asp) n.403G>A c.2225G>A (p.Gly742Asp) n.1122G>A n.704G>A n.1123G>A n.3097G>A c.1460G>A (p.Gly487Asp) c.9605G>A (p.Gly3202Asp) c.5573G>A (p.Gly1858Asp) c.278G>A (p.Gly93Asp) c.344G>A (p.Gly115Asp) n.535G>A c.1418G>A (p.Gly473Asp) c.2693G>A (p.Gly898Asp) c.9593G>A (p.Gly3198Asp) c.9590G>A (p.Gly3197Asp) c.9602G>A (p.Gly3201Asp) c.9581G>A (p.Gly3194Asp) c.9236G>A (p.Gly3079Asp) c.5582G>A (p.Gly1861Asp) c.9476G>A (p.Gly3159Asp) c.9467G>A (p.Gly3156Asp) c.9482G>A (p.Gly3161Asp) c.3779G>A (p.Gly1260Asp) | |
X | g.31206627C>A | CA412649510 | DMD | c.4450G>T (p.Gly1484Cys) c.400G>T (p.Gly134Cys) n.402G>T c.2224G>T (p.Gly742Cys) n.1121G>T n.703G>T n.1122G>T n.3096G>T c.1459G>T (p.Gly487Cys) c.9604G>T (p.Gly3202Cys) c.5572G>T (p.Gly1858Cys) c.277G>T (p.Gly93Cys) c.343G>T (p.Gly115Cys) n.534G>T c.1417G>T (p.Gly473Cys) c.2692G>T (p.Gly898Cys) c.9592G>T (p.Gly3198Cys) c.9589G>T (p.Gly3197Cys) c.9601G>T (p.Gly3201Cys) c.9580G>T (p.Gly3194Cys) c.9235G>T (p.Gly3079Cys) c.5581G>T (p.Gly1861Cys) c.9475G>T (p.Gly3159Cys) c.9466G>T (p.Gly3156Cys) c.9481G>T (p.Gly3161Cys) c.3778G>T (p.Gly1260Cys) | |
X | g.31206627C>G | CA412649512 | DMD | c.4450G>C (p.Gly1484Arg) c.400G>C (p.Gly134Arg) n.402G>C c.2224G>C (p.Gly742Arg) n.1121G>C n.703G>C n.1122G>C n.3096G>C c.1459G>C (p.Gly487Arg) c.9604G>C (p.Gly3202Arg) c.5572G>C (p.Gly1858Arg) c.277G>C (p.Gly93Arg) c.343G>C (p.Gly115Arg) n.534G>C c.1417G>C (p.Gly473Arg) c.2692G>C (p.Gly898Arg) c.9592G>C (p.Gly3198Arg) c.9589G>C (p.Gly3197Arg) c.9601G>C (p.Gly3201Arg) c.9580G>C (p.Gly3194Arg) c.9235G>C (p.Gly3079Arg) c.5581G>C (p.Gly1861Arg) c.9475G>C (p.Gly3159Arg) c.9466G>C (p.Gly3156Arg) c.9481G>C (p.Gly3161Arg) c.3778G>C (p.Gly1260Arg) | |
X | g.31206627C>T | CA412649514 | DMD | c.4450G>A (p.Gly1484Ser) c.400G>A (p.Gly134Ser) n.402G>A c.2224G>A (p.Gly742Ser) n.1121G>A n.703G>A n.1122G>A n.3096G>A c.1459G>A (p.Gly487Ser) c.9604G>A (p.Gly3202Ser) c.5572G>A (p.Gly1858Ser) c.277G>A (p.Gly93Ser) c.343G>A (p.Gly115Ser) n.534G>A c.1417G>A (p.Gly473Ser) c.2692G>A (p.Gly898Ser) c.9592G>A (p.Gly3198Ser) c.9589G>A (p.Gly3197Ser) c.9601G>A (p.Gly3201Ser) c.9580G>A (p.Gly3194Ser) c.9235G>A (p.Gly3079Ser) c.5581G>A (p.Gly1861Ser) c.9475G>A (p.Gly3159Ser) c.9466G>A (p.Gly3156Ser) c.9481G>A (p.Gly3161Ser) c.3778G>A (p.Gly1260Ser) | |
X | g.31206630_31206642dup | CA2695232310 | DMD | c.4438_4450dup (p.Gly1484ValfsTer3) c.388_400dup (p.Gly134ValfsTer3) n.390_402dup c.2212_2224dup (p.Gly742ValfsTer3) n.1109_1121dup n.691_703dup n.1110_1122dup n.3084_3096dup c.1447_1459dup (p.Gly487ValfsTer3) c.9592_9604dup (p.Gly3202ValfsTer3) c.5560_5572dup (p.Gly1858ValfsTer3) c.265_277dup (p.Gly93ValfsTer3) c.331_343dup (p.Gly115ValfsTer3) n.522_534dup c.1405_1417dup (p.Gly473ValfsTer3) c.2680_2692dup (p.Gly898ValfsTer3) c.9580_9592dup (p.Gly3198ValfsTer3) c.9577_9589dup (p.Gly3197ValfsTer3) c.9589_9601dup (p.Gly3201ValfsTer3) c.9568_9580dup (p.Gly3194ValfsTer3) c.9223_9235dup (p.Gly3079ValfsTer3) c.5569_5581dup (p.Gly1861ValfsTer3) c.9463_9475dup (p.Gly3159ValfsTer3) c.9454_9466dup (p.Gly3156ValfsTer3) c.9469_9481dup (p.Gly3161ValfsTer3) c.3766_3778dup (p.Gly1260ValfsTer3) | |
X | g.31206628A>C | CA515857064 | DMD | c.4449T>G (p.Thr1483=) c.399T>G (p.Thr133=) n.401T>G c.2223T>G (p.Thr741=) n.1120T>G n.702T>G n.1121T>G n.3095T>G c.1458T>G (p.Thr486=) c.9603T>G (p.Thr3201=) c.5571T>G (p.Thr1857=) c.276T>G (p.Thr92=) c.342T>G (p.Thr114=) n.533T>G c.1416T>G (p.Thr472=) c.2691T>G (p.Thr897=) c.9591T>G (p.Thr3197=) c.9588T>G (p.Thr3196=) c.9600T>G (p.Thr3200=) c.9579T>G (p.Thr3193=) c.9234T>G (p.Thr3078=) c.5580T>G (p.Thr1860=) c.9474T>G (p.Thr3158=) c.9465T>G (p.Thr3155=) c.9480T>G (p.Thr3160=) c.3777T>G (p.Thr1259=) | ClinVar gnomAD v4 |
X | g.31206628A>G | CA515857066 | DMD | c.4449T>C (p.Thr1483=) c.399T>C (p.Thr133=) n.401T>C c.2223T>C (p.Thr741=) n.1120T>C n.702T>C n.1121T>C n.3095T>C c.1458T>C (p.Thr486=) c.9603T>C (p.Thr3201=) c.5571T>C (p.Thr1857=) c.276T>C (p.Thr92=) c.342T>C (p.Thr114=) n.533T>C c.1416T>C (p.Thr472=) c.2691T>C (p.Thr897=) c.9591T>C (p.Thr3197=) c.9588T>C (p.Thr3196=) c.9600T>C (p.Thr3200=) c.9579T>C (p.Thr3193=) c.9234T>C (p.Thr3078=) c.5580T>C (p.Thr1860=) c.9474T>C (p.Thr3158=) c.9465T>C (p.Thr3155=) c.9480T>C (p.Thr3160=) c.3777T>C (p.Thr1259=) | ClinVar dbSNP |
X | g.31206628A>T | CA515857067 | DMD | c.4449T>A (p.Thr1483=) c.399T>A (p.Thr133=) n.401T>A c.2223T>A (p.Thr741=) n.1120T>A n.702T>A n.1121T>A n.3095T>A c.1458T>A (p.Thr486=) c.9603T>A (p.Thr3201=) c.5571T>A (p.Thr1857=) c.276T>A (p.Thr92=) c.342T>A (p.Thr114=) n.533T>A c.1416T>A (p.Thr472=) c.2691T>A (p.Thr897=) c.9591T>A (p.Thr3197=) c.9588T>A (p.Thr3196=) c.9600T>A (p.Thr3200=) c.9579T>A (p.Thr3193=) c.9234T>A (p.Thr3078=) c.5580T>A (p.Thr1860=) c.9474T>A (p.Thr3158=) c.9465T>A (p.Thr3155=) c.9480T>A (p.Thr3160=) c.3777T>A (p.Thr1259=) | |
X | g.31206629G>A | CA412649515 | DMD | c.4448C>T (p.Thr1483Ile) c.398C>T (p.Thr133Ile) n.400C>T c.2222C>T (p.Thr741Ile) n.1119C>T n.701C>T n.1120C>T n.3094C>T c.1457C>T (p.Thr486Ile) c.9602C>T (p.Thr3201Ile) c.5570C>T (p.Thr1857Ile) c.275C>T (p.Thr92Ile) c.341C>T (p.Thr114Ile) n.532C>T c.1415C>T (p.Thr472Ile) c.2690C>T (p.Thr897Ile) c.9590C>T (p.Thr3197Ile) c.9587C>T (p.Thr3196Ile) c.9599C>T (p.Thr3200Ile) c.9578C>T (p.Thr3193Ile) c.9233C>T (p.Thr3078Ile) c.5579C>T (p.Thr1860Ile) c.9473C>T (p.Thr3158Ile) c.9464C>T (p.Thr3155Ile) c.9479C>T (p.Thr3160Ile) c.3776C>T (p.Thr1259Ile) | ClinVar gnomAD v4 |
X | g.31206629G>C | CA412649516 | DMD | c.4448C>G (p.Thr1483Ser) c.398C>G (p.Thr133Ser) n.400C>G c.2222C>G (p.Thr741Ser) n.1119C>G n.701C>G n.1120C>G n.3094C>G c.1457C>G (p.Thr486Ser) c.9602C>G (p.Thr3201Ser) c.5570C>G (p.Thr1857Ser) c.275C>G (p.Thr92Ser) c.341C>G (p.Thr114Ser) n.532C>G c.1415C>G (p.Thr472Ser) c.2690C>G (p.Thr897Ser) c.9590C>G (p.Thr3197Ser) c.9587C>G (p.Thr3196Ser) c.9599C>G (p.Thr3200Ser) c.9578C>G (p.Thr3193Ser) c.9233C>G (p.Thr3078Ser) c.5579C>G (p.Thr1860Ser) c.9473C>G (p.Thr3158Ser) c.9464C>G (p.Thr3155Ser) c.9479C>G (p.Thr3160Ser) c.3776C>G (p.Thr1259Ser) | ClinVar |
X | g.31206629G>T | CA412649517 | DMD | c.4448C>A (p.Thr1483Asn) c.398C>A (p.Thr133Asn) n.400C>A c.2222C>A (p.Thr741Asn) n.1119C>A n.701C>A n.1120C>A n.3094C>A c.1457C>A (p.Thr486Asn) c.9602C>A (p.Thr3201Asn) c.5570C>A (p.Thr1857Asn) c.275C>A (p.Thr92Asn) c.341C>A (p.Thr114Asn) n.532C>A c.1415C>A (p.Thr472Asn) c.2690C>A (p.Thr897Asn) c.9590C>A (p.Thr3197Asn) c.9587C>A (p.Thr3196Asn) c.9599C>A (p.Thr3200Asn) c.9578C>A (p.Thr3193Asn) c.9233C>A (p.Thr3078Asn) c.5579C>A (p.Thr1860Asn) c.9473C>A (p.Thr3158Asn) c.9464C>A (p.Thr3155Asn) c.9479C>A (p.Thr3160Asn) c.3776C>A (p.Thr1259Asn) | |
X | g.31206630T>A | CA412649521 | DMD | c.4447A>T (p.Thr1483Ser) c.397A>T (p.Thr133Ser) n.399A>T c.2221A>T (p.Thr741Ser) n.1118A>T n.700A>T n.1119A>T n.3093A>T c.1456A>T (p.Thr486Ser) c.9601A>T (p.Thr3201Ser) c.5569A>T (p.Thr1857Ser) c.274A>T (p.Thr92Ser) c.340A>T (p.Thr114Ser) n.531A>T c.1414A>T (p.Thr472Ser) c.2689A>T (p.Thr897Ser) c.9589A>T (p.Thr3197Ser) c.9586A>T (p.Thr3196Ser) c.9598A>T (p.Thr3200Ser) c.9577A>T (p.Thr3193Ser) c.9232A>T (p.Thr3078Ser) c.5578A>T (p.Thr1860Ser) c.9472A>T (p.Thr3158Ser) c.9463A>T (p.Thr3155Ser) c.9478A>T (p.Thr3160Ser) c.3775A>T (p.Thr1259Ser) | |
X | g.31206630T>C | CA412649520 | DMD | c.4447A>G (p.Thr1483Ala) c.397A>G (p.Thr133Ala) n.399A>G c.2221A>G (p.Thr741Ala) n.1118A>G n.700A>G n.1119A>G n.3093A>G c.1456A>G (p.Thr486Ala) c.9601A>G (p.Thr3201Ala) c.5569A>G (p.Thr1857Ala) c.274A>G (p.Thr92Ala) c.340A>G (p.Thr114Ala) n.531A>G c.1414A>G (p.Thr472Ala) c.2689A>G (p.Thr897Ala) c.9589A>G (p.Thr3197Ala) c.9586A>G (p.Thr3196Ala) c.9598A>G (p.Thr3200Ala) c.9577A>G (p.Thr3193Ala) c.9232A>G (p.Thr3078Ala) c.5578A>G (p.Thr1860Ala) c.9472A>G (p.Thr3158Ala) c.9463A>G (p.Thr3155Ala) c.9478A>G (p.Thr3160Ala) c.3775A>G (p.Thr1259Ala) | |
X | g.31206630T>G | CA412649519 | DMD | c.4447A>C (p.Thr1483Pro) c.397A>C (p.Thr133Pro) n.399A>C c.2221A>C (p.Thr741Pro) n.1118A>C n.700A>C n.1119A>C n.3093A>C c.1456A>C (p.Thr486Pro) c.9601A>C (p.Thr3201Pro) c.5569A>C (p.Thr1857Pro) c.274A>C (p.Thr92Pro) c.340A>C (p.Thr114Pro) n.531A>C c.1414A>C (p.Thr472Pro) c.2689A>C (p.Thr897Pro) c.9589A>C (p.Thr3197Pro) c.9586A>C (p.Thr3196Pro) c.9598A>C (p.Thr3200Pro) c.9577A>C (p.Thr3193Pro) c.9232A>C (p.Thr3078Pro) c.5578A>C (p.Thr1860Pro) c.9472A>C (p.Thr3158Pro) c.9463A>C (p.Thr3155Pro) c.9478A>C (p.Thr3160Pro) c.3775A>C (p.Thr1259Pro) | |
X | g.31206633del | CA2579578640 | DMD | c.4447del (p.Thr1483LeufsTer?) c.397del (p.Thr133LeufsTer?) n.399del c.2221del (p.Thr741LeufsTer?) n.1118del n.700del n.1119del n.3093del c.1456del (p.Thr486LeufsTer?) c.9601del (p.Thr3201LeufsTer?) c.5569del (p.Thr1857LeufsTer?) c.274del (p.Thr92LeufsTer?) c.340del (p.Thr114LeufsTer?) n.531del c.1414del (p.Thr472LeufsTer?) c.2689del (p.Thr897LeufsTer?) c.9589del (p.Thr3197LeufsTer?) c.9586del (p.Thr3196LeufsTer?) c.9598del (p.Thr3200LeufsTer?) c.9577del (p.Thr3193LeufsTer?) c.9232del (p.Thr3078LeufsTer?) c.5578del (p.Thr1860LeufsTer?) c.9472del (p.Thr3158LeufsTer?) c.9463del (p.Thr3155LeufsTer?) c.9478del (p.Thr3160LeufsTer?) c.3775del (p.Thr1259LeufsTer?) | |
X | g.31206632_31206633del | CA2580100566 | DMD | c.4446_4447del (p.Lys1482AsnfsTer8) c.396_397del (p.Lys132AsnfsTer8) n.398_399del c.2220_2221del (p.Lys740AsnfsTer8) n.1117_1118del n.699_700del n.1118_1119del n.3092_3093del c.1455_1456del (p.Lys485AsnfsTer8) c.9600_9601del (p.Lys3200AsnfsTer8) c.5568_5569del (p.Lys1856AsnfsTer8) c.273_274del (p.Lys91AsnfsTer8) c.339_340del (p.Lys113AsnfsTer8) n.530_531del c.1413_1414del (p.Lys471AsnfsTer8) c.2688_2689del (p.Lys896AsnfsTer8) c.9588_9589del (p.Lys3196AsnfsTer8) c.9585_9586del (p.Lys3195AsnfsTer8) c.9597_9598del (p.Lys3199AsnfsTer8) c.9576_9577del (p.Lys3192AsnfsTer8) c.9231_9232del (p.Lys3077AsnfsTer8) c.5577_5578del (p.Lys1859AsnfsTer8) c.9471_9472del (p.Lys3157AsnfsTer8) c.9462_9463del (p.Lys3154AsnfsTer8) c.9477_9478del (p.Lys3159AsnfsTer8) c.3774_3775del (p.Lys1258AsnfsTer8) | ClinVar |
X | g.31206631T>A | CA412649523 | DMD | c.4446A>T (p.Lys1482Asn) c.396A>T (p.Lys132Asn) n.398A>T c.2220A>T (p.Lys740Asn) n.1117A>T n.699A>T n.1118A>T n.3092A>T c.1455A>T (p.Lys485Asn) c.9600A>T (p.Lys3200Asn) c.5568A>T (p.Lys1856Asn) c.273A>T (p.Lys91Asn) c.339A>T (p.Lys113Asn) n.530A>T c.1413A>T (p.Lys471Asn) c.2688A>T (p.Lys896Asn) c.9588A>T (p.Lys3196Asn) c.9585A>T (p.Lys3195Asn) c.9597A>T (p.Lys3199Asn) c.9576A>T (p.Lys3192Asn) c.9231A>T (p.Lys3077Asn) c.5577A>T (p.Lys1859Asn) c.9471A>T (p.Lys3157Asn) c.9462A>T (p.Lys3154Asn) c.9477A>T (p.Lys3159Asn) c.3774A>T (p.Lys1258Asn) | |
X | g.31206631T>C | CA515857069 | DMD | c.4446A>G (p.Lys1482=) c.396A>G (p.Lys132=) n.398A>G c.2220A>G (p.Lys740=) n.1117A>G n.699A>G n.1118A>G n.3092A>G c.1455A>G (p.Lys485=) c.9600A>G (p.Lys3200=) c.5568A>G (p.Lys1856=) c.273A>G (p.Lys91=) c.339A>G (p.Lys113=) n.530A>G c.1413A>G (p.Lys471=) c.2688A>G (p.Lys896=) c.9588A>G (p.Lys3196=) c.9585A>G (p.Lys3195=) c.9597A>G (p.Lys3199=) c.9576A>G (p.Lys3192=) c.9231A>G (p.Lys3077=) c.5577A>G (p.Lys1859=) c.9471A>G (p.Lys3157=) c.9462A>G (p.Lys3154=) c.9477A>G (p.Lys3159=) c.3774A>G (p.Lys1258=) | |
X | g.31206631T>G | CA412649525 | DMD | c.4446A>C (p.Lys1482Asn) c.396A>C (p.Lys132Asn) n.398A>C c.2220A>C (p.Lys740Asn) n.1117A>C n.699A>C n.1118A>C n.3092A>C c.1455A>C (p.Lys485Asn) c.9600A>C (p.Lys3200Asn) c.5568A>C (p.Lys1856Asn) c.273A>C (p.Lys91Asn) c.339A>C (p.Lys113Asn) n.530A>C c.1413A>C (p.Lys471Asn) c.2688A>C (p.Lys896Asn) c.9588A>C (p.Lys3196Asn) c.9585A>C (p.Lys3195Asn) c.9597A>C (p.Lys3199Asn) c.9576A>C (p.Lys3192Asn) c.9231A>C (p.Lys3077Asn) c.5577A>C (p.Lys1859Asn) c.9471A>C (p.Lys3157Asn) c.9462A>C (p.Lys3154Asn) c.9477A>C (p.Lys3159Asn) c.3774A>C (p.Lys1258Asn) | |
X | g.31206632T>A | CA10377771 | DMD | c.4445A>T (p.Lys1482Ile) c.395A>T (p.Lys132Ile) n.397A>T c.2219A>T (p.Lys740Ile) n.1116A>T n.698A>T n.1117A>T n.3091A>T c.1454A>T (p.Lys485Ile) c.9599A>T (p.Lys3200Ile) c.5567A>T (p.Lys1856Ile) c.272A>T (p.Lys91Ile) c.338A>T (p.Lys113Ile) n.529A>T c.1412A>T (p.Lys471Ile) c.2687A>T (p.Lys896Ile) c.9587A>T (p.Lys3196Ile) c.9584A>T (p.Lys3195Ile) c.9596A>T (p.Lys3199Ile) c.9575A>T (p.Lys3192Ile) c.9230A>T (p.Lys3077Ile) c.5576A>T (p.Lys1859Ile) c.9470A>T (p.Lys3157Ile) c.9461A>T (p.Lys3154Ile) c.9476A>T (p.Lys3159Ile) c.3773A>T (p.Lys1258Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31206632T>C | CA412649527 | DMD | c.4445A>G (p.Lys1482Arg) c.395A>G (p.Lys132Arg) n.397A>G c.2219A>G (p.Lys740Arg) n.1116A>G n.698A>G n.1117A>G n.3091A>G c.1454A>G (p.Lys485Arg) c.9599A>G (p.Lys3200Arg) c.5567A>G (p.Lys1856Arg) c.272A>G (p.Lys91Arg) c.338A>G (p.Lys113Arg) n.529A>G c.1412A>G (p.Lys471Arg) c.2687A>G (p.Lys896Arg) c.9587A>G (p.Lys3196Arg) c.9584A>G (p.Lys3195Arg) c.9596A>G (p.Lys3199Arg) c.9575A>G (p.Lys3192Arg) c.9230A>G (p.Lys3077Arg) c.5576A>G (p.Lys1859Arg) c.9470A>G (p.Lys3157Arg) c.9461A>G (p.Lys3154Arg) c.9476A>G (p.Lys3159Arg) c.3773A>G (p.Lys1258Arg) | |
X | g.31206632T>G | CA412649529 | DMD | c.4445A>C (p.Lys1482Thr) c.395A>C (p.Lys132Thr) n.397A>C c.2219A>C (p.Lys740Thr) n.1116A>C n.698A>C n.1117A>C n.3091A>C c.1454A>C (p.Lys485Thr) c.9599A>C (p.Lys3200Thr) c.5567A>C (p.Lys1856Thr) c.272A>C (p.Lys91Thr) c.338A>C (p.Lys113Thr) n.529A>C c.1412A>C (p.Lys471Thr) c.2687A>C (p.Lys896Thr) c.9587A>C (p.Lys3196Thr) c.9584A>C (p.Lys3195Thr) c.9596A>C (p.Lys3199Thr) c.9575A>C (p.Lys3192Thr) c.9230A>C (p.Lys3077Thr) c.5576A>C (p.Lys1859Thr) c.9470A>C (p.Lys3157Thr) c.9461A>C (p.Lys3154Thr) c.9476A>C (p.Lys3159Thr) c.3773A>C (p.Lys1258Thr) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31206632T= | CA2422348457 | DMD | c.4445A= (p.Lys1482=) c.395A= (p.Lys132=) n.397A= c.2219A= (p.Lys740=) n.1116A= n.698A= n.1117A= n.3091A= c.1454A= (p.Lys485=) c.9599A= (p.Lys3200=) c.5567A= (p.Lys1856=) c.272A= (p.Lys91=) c.338A= (p.Lys113=) n.529A= c.1412A= (p.Lys471=) c.2687A= (p.Lys896=) c.9587A= (p.Lys3196=) c.9584A= (p.Lys3195=) c.9596A= (p.Lys3199=) c.9575A= (p.Lys3192=) c.9230A= (p.Lys3077=) c.5576A= (p.Lys1859=) c.9470A= (p.Lys3157=) c.9461A= (p.Lys3154=) c.9476A= (p.Lys3159=) c.3773A= (p.Lys1258=) | |
X | g.31206633T>A | CA412649531 | DMD | c.4444A>T (p.Lys1482Ter) c.394A>T (p.Lys132Ter) n.396A>T c.2218A>T (p.Lys740Ter) n.1115A>T n.697A>T n.1116A>T n.3090A>T c.1453A>T (p.Lys485Ter) c.9598A>T (p.Lys3200Ter) c.5566A>T (p.Lys1856Ter) c.271A>T (p.Lys91Ter) c.337A>T (p.Lys113Ter) n.528A>T c.1411A>T (p.Lys471Ter) c.2686A>T (p.Lys896Ter) c.9586A>T (p.Lys3196Ter) c.9583A>T (p.Lys3195Ter) c.9595A>T (p.Lys3199Ter) c.9574A>T (p.Lys3192Ter) c.9229A>T (p.Lys3077Ter) c.5575A>T (p.Lys1859Ter) c.9469A>T (p.Lys3157Ter) c.9460A>T (p.Lys3154Ter) c.9475A>T (p.Lys3159Ter) c.3772A>T (p.Lys1258Ter) | |
X | g.31206633T>C | CA412649532 | DMD | c.4444A>G (p.Lys1482Glu) c.394A>G (p.Lys132Glu) n.396A>G c.2218A>G (p.Lys740Glu) n.1115A>G n.697A>G n.1116A>G n.3090A>G c.1453A>G (p.Lys485Glu) c.9598A>G (p.Lys3200Glu) c.5566A>G (p.Lys1856Glu) c.271A>G (p.Lys91Glu) c.337A>G (p.Lys113Glu) n.528A>G c.1411A>G (p.Lys471Glu) c.2686A>G (p.Lys896Glu) c.9586A>G (p.Lys3196Glu) c.9583A>G (p.Lys3195Glu) c.9595A>G (p.Lys3199Glu) c.9574A>G (p.Lys3192Glu) c.9229A>G (p.Lys3077Glu) c.5575A>G (p.Lys1859Glu) c.9469A>G (p.Lys3157Glu) c.9460A>G (p.Lys3154Glu) c.9475A>G (p.Lys3159Glu) c.3772A>G (p.Lys1258Glu) | |
X | g.31206633T>G | CA412649533 | DMD | c.4444A>C (p.Lys1482Gln) c.394A>C (p.Lys132Gln) n.396A>C c.2218A>C (p.Lys740Gln) n.1115A>C n.697A>C n.1116A>C n.3090A>C c.1453A>C (p.Lys485Gln) c.9598A>C (p.Lys3200Gln) c.5566A>C (p.Lys1856Gln) c.271A>C (p.Lys91Gln) c.337A>C (p.Lys113Gln) n.528A>C c.1411A>C (p.Lys471Gln) c.2686A>C (p.Lys896Gln) c.9586A>C (p.Lys3196Gln) c.9583A>C (p.Lys3195Gln) c.9595A>C (p.Lys3199Gln) c.9574A>C (p.Lys3192Gln) c.9229A>C (p.Lys3077Gln) c.5575A>C (p.Lys1859Gln) c.9469A>C (p.Lys3157Gln) c.9460A>C (p.Lys3154Gln) c.9475A>C (p.Lys3159Gln) c.3772A>C (p.Lys1258Gln) | |
X | g.31206634A= | CA2422348458 | DMD | c.4443T= (p.Phe1481=) c.393T= (p.Phe131=) n.395T= c.2217T= (p.Phe739=) n.1114T= n.696T= n.1115T= n.3089T= c.1452T= (p.Phe484=) c.9597T= (p.Phe3199=) c.5565T= (p.Phe1855=) c.270T= (p.Phe90=) c.336T= (p.Phe112=) n.527T= c.1410T= (p.Phe470=) c.2685T= (p.Phe895=) c.9585T= (p.Phe3195=) c.9582T= (p.Phe3194=) c.9594T= (p.Phe3198=) c.9573T= (p.Phe3191=) c.9228T= (p.Phe3076=) c.5574T= (p.Phe1858=) c.9468T= (p.Phe3156=) c.9459T= (p.Phe3153=) c.9474T= (p.Phe3158=) c.3771T= (p.Phe1257=) | |
X | g.31206634A>C | CA412649534 | DMD | c.4443T>G (p.Phe1481Leu) c.393T>G (p.Phe131Leu) n.395T>G c.2217T>G (p.Phe739Leu) n.1114T>G n.696T>G n.1115T>G n.3089T>G c.1452T>G (p.Phe484Leu) c.9597T>G (p.Phe3199Leu) c.5565T>G (p.Phe1855Leu) c.270T>G (p.Phe90Leu) c.336T>G (p.Phe112Leu) n.527T>G c.1410T>G (p.Phe470Leu) c.2685T>G (p.Phe895Leu) c.9585T>G (p.Phe3195Leu) c.9582T>G (p.Phe3194Leu) c.9594T>G (p.Phe3198Leu) c.9573T>G (p.Phe3191Leu) c.9228T>G (p.Phe3076Leu) c.5574T>G (p.Phe1858Leu) c.9468T>G (p.Phe3156Leu) c.9459T>G (p.Phe3153Leu) c.9474T>G (p.Phe3158Leu) c.3771T>G (p.Phe1257Leu) | |
X | g.31206634A>G | CA515857071 | DMD | c.4443T>C (p.Phe1481=) c.393T>C (p.Phe131=) n.395T>C c.2217T>C (p.Phe739=) n.1114T>C n.696T>C n.1115T>C n.3089T>C c.1452T>C (p.Phe484=) c.9597T>C (p.Phe3199=) c.5565T>C (p.Phe1855=) c.270T>C (p.Phe90=) c.336T>C (p.Phe112=) n.527T>C c.1410T>C (p.Phe470=) c.2685T>C (p.Phe895=) c.9585T>C (p.Phe3195=) c.9582T>C (p.Phe3194=) c.9594T>C (p.Phe3198=) c.9573T>C (p.Phe3191=) c.9228T>C (p.Phe3076=) c.5574T>C (p.Phe1858=) c.9468T>C (p.Phe3156=) c.9459T>C (p.Phe3153=) c.9474T>C (p.Phe3158=) c.3771T>C (p.Phe1257=) | |
X | g.31206634A>T | CA328407915 | DMD | c.4443T>A (p.Phe1481Leu) c.393T>A (p.Phe131Leu) n.395T>A c.2217T>A (p.Phe739Leu) n.1114T>A n.696T>A n.1115T>A n.3089T>A c.1452T>A (p.Phe484Leu) c.9597T>A (p.Phe3199Leu) c.5565T>A (p.Phe1855Leu) c.270T>A (p.Phe90Leu) c.336T>A (p.Phe112Leu) n.527T>A c.1410T>A (p.Phe470Leu) c.2685T>A (p.Phe895Leu) c.9585T>A (p.Phe3195Leu) c.9582T>A (p.Phe3194Leu) c.9594T>A (p.Phe3198Leu) c.9573T>A (p.Phe3191Leu) c.9228T>A (p.Phe3076Leu) c.5574T>A (p.Phe1858Leu) c.9468T>A (p.Phe3156Leu) c.9459T>A (p.Phe3153Leu) c.9474T>A (p.Phe3158Leu) c.3771T>A (p.Phe1257Leu) | ClinVar dbSNP gnomAD v4 |
X | g.31206637del | CA2563788216 | DMD | c.4443del (p.Phe1481LeufsTer?) c.393del (p.Phe131LeufsTer?) n.395del c.2217del (p.Phe739LeufsTer?) n.1114del n.696del n.1115del n.3089del c.1452del (p.Phe484LeufsTer?) c.9597del (p.Phe3199LeufsTer?) c.5565del (p.Phe1855LeufsTer?) c.270del (p.Phe90LeufsTer?) c.336del (p.Phe112LeufsTer?) n.527del c.1410del (p.Phe470LeufsTer?) c.2685del (p.Phe895LeufsTer?) c.9585del (p.Phe3195LeufsTer?) c.9582del (p.Phe3194LeufsTer?) c.9594del (p.Phe3198LeufsTer?) c.9573del (p.Phe3191LeufsTer?) c.9228del (p.Phe3076LeufsTer?) c.5574del (p.Phe1858LeufsTer?) c.9468del (p.Phe3156LeufsTer?) c.9459del (p.Phe3153LeufsTer?) c.9474del (p.Phe3158LeufsTer?) c.3771del (p.Phe1257LeufsTer?) | |
X | g.31206636_31206637del | CA2695232313 | DMD | c.4442_4443del (p.Phe1481Ter) c.392_393del (p.Phe131Ter) n.394_395del c.2216_2217del (p.Phe739Ter) n.1113_1114del n.695_696del n.1114_1115del n.3088_3089del c.1451_1452del (p.Phe484Ter) c.9596_9597del (p.Phe3199Ter) c.5564_5565del (p.Phe1855Ter) c.269_270del (p.Phe90Ter) c.335_336del (p.Phe112Ter) n.526_527del c.1409_1410del (p.Phe470Ter) c.2684_2685del (p.Phe895Ter) c.9584_9585del (p.Phe3195Ter) c.9581_9582del (p.Phe3194Ter) c.9593_9594del (p.Phe3198Ter) c.9572_9573del (p.Phe3191Ter) c.9227_9228del (p.Phe3076Ter) c.5573_5574del (p.Phe1858Ter) c.9467_9468del (p.Phe3156Ter) c.9458_9459del (p.Phe3153Ter) c.9473_9474del (p.Phe3158Ter) c.3770_3771del (p.Phe1257Ter) | |
X | g.31206635A>C | CA412649535 | DMD | c.4442T>G (p.Phe1481Cys) c.392T>G (p.Phe131Cys) n.394T>G c.2216T>G (p.Phe739Cys) n.1113T>G n.695T>G n.1114T>G n.3088T>G c.1451T>G (p.Phe484Cys) c.9596T>G (p.Phe3199Cys) c.5564T>G (p.Phe1855Cys) c.269T>G (p.Phe90Cys) c.335T>G (p.Phe112Cys) n.526T>G c.1409T>G (p.Phe470Cys) c.2684T>G (p.Phe895Cys) c.9584T>G (p.Phe3195Cys) c.9581T>G (p.Phe3194Cys) c.9593T>G (p.Phe3198Cys) c.9572T>G (p.Phe3191Cys) c.9227T>G (p.Phe3076Cys) c.5573T>G (p.Phe1858Cys) c.9467T>G (p.Phe3156Cys) c.9458T>G (p.Phe3153Cys) c.9473T>G (p.Phe3158Cys) c.3770T>G (p.Phe1257Cys) | |
X | g.31206635A>G | CA412649536 | DMD | c.4442T>C (p.Phe1481Ser) c.392T>C (p.Phe131Ser) n.394T>C c.2216T>C (p.Phe739Ser) n.1113T>C n.695T>C n.1114T>C n.3088T>C c.1451T>C (p.Phe484Ser) c.9596T>C (p.Phe3199Ser) c.5564T>C (p.Phe1855Ser) c.269T>C (p.Phe90Ser) c.335T>C (p.Phe112Ser) n.526T>C c.1409T>C (p.Phe470Ser) c.2684T>C (p.Phe895Ser) c.9584T>C (p.Phe3195Ser) c.9581T>C (p.Phe3194Ser) c.9593T>C (p.Phe3198Ser) c.9572T>C (p.Phe3191Ser) c.9227T>C (p.Phe3076Ser) c.5573T>C (p.Phe1858Ser) c.9467T>C (p.Phe3156Ser) c.9458T>C (p.Phe3153Ser) c.9473T>C (p.Phe3158Ser) c.3770T>C (p.Phe1257Ser) | |
X | g.31206635A>T | CA412649537 | DMD | c.4442T>A (p.Phe1481Tyr) c.392T>A (p.Phe131Tyr) n.394T>A c.2216T>A (p.Phe739Tyr) n.1113T>A n.695T>A n.1114T>A n.3088T>A c.1451T>A (p.Phe484Tyr) c.9596T>A (p.Phe3199Tyr) c.5564T>A (p.Phe1855Tyr) c.269T>A (p.Phe90Tyr) c.335T>A (p.Phe112Tyr) n.526T>A c.1409T>A (p.Phe470Tyr) c.2684T>A (p.Phe895Tyr) c.9584T>A (p.Phe3195Tyr) c.9581T>A (p.Phe3194Tyr) c.9593T>A (p.Phe3198Tyr) c.9572T>A (p.Phe3191Tyr) c.9227T>A (p.Phe3076Tyr) c.5573T>A (p.Phe1858Tyr) c.9467T>A (p.Phe3156Tyr) c.9458T>A (p.Phe3153Tyr) c.9473T>A (p.Phe3158Tyr) c.3770T>A (p.Phe1257Tyr) | |
X | g.31206636A>C | CA412649539 | DMD | c.4441T>G (p.Phe1481Val) c.391T>G (p.Phe131Val) n.393T>G c.2215T>G (p.Phe739Val) n.1112T>G n.694T>G n.1113T>G n.3087T>G c.1450T>G (p.Phe484Val) c.9595T>G (p.Phe3199Val) c.5563T>G (p.Phe1855Val) c.268T>G (p.Phe90Val) c.334T>G (p.Phe112Val) n.525T>G c.1408T>G (p.Phe470Val) c.2683T>G (p.Phe895Val) c.9583T>G (p.Phe3195Val) c.9580T>G (p.Phe3194Val) c.9592T>G (p.Phe3198Val) c.9571T>G (p.Phe3191Val) c.9226T>G (p.Phe3076Val) c.5572T>G (p.Phe1858Val) c.9466T>G (p.Phe3156Val) c.9457T>G (p.Phe3153Val) c.9472T>G (p.Phe3158Val) c.3769T>G (p.Phe1257Val) | |
X | g.31206636A>G | CA412649541 | DMD | c.4441T>C (p.Phe1481Leu) c.391T>C (p.Phe131Leu) n.393T>C c.2215T>C (p.Phe739Leu) n.1112T>C n.694T>C n.1113T>C n.3087T>C c.1450T>C (p.Phe484Leu) c.9595T>C (p.Phe3199Leu) c.5563T>C (p.Phe1855Leu) c.268T>C (p.Phe90Leu) c.334T>C (p.Phe112Leu) n.525T>C c.1408T>C (p.Phe470Leu) c.2683T>C (p.Phe895Leu) c.9583T>C (p.Phe3195Leu) c.9580T>C (p.Phe3194Leu) c.9592T>C (p.Phe3198Leu) c.9571T>C (p.Phe3191Leu) c.9226T>C (p.Phe3076Leu) c.5572T>C (p.Phe1858Leu) c.9466T>C (p.Phe3156Leu) c.9457T>C (p.Phe3153Leu) c.9472T>C (p.Phe3158Leu) c.3769T>C (p.Phe1257Leu) | |
X | g.31206636A>T | CA412649538 | DMD | c.4441T>A (p.Phe1481Ile) c.391T>A (p.Phe131Ile) n.393T>A c.2215T>A (p.Phe739Ile) n.1112T>A n.694T>A n.1113T>A n.3087T>A c.1450T>A (p.Phe484Ile) c.9595T>A (p.Phe3199Ile) c.5563T>A (p.Phe1855Ile) c.268T>A (p.Phe90Ile) c.334T>A (p.Phe112Ile) n.525T>A c.1408T>A (p.Phe470Ile) c.2683T>A (p.Phe895Ile) c.9583T>A (p.Phe3195Ile) c.9580T>A (p.Phe3194Ile) c.9592T>A (p.Phe3198Ile) c.9571T>A (p.Phe3191Ile) c.9226T>A (p.Phe3076Ile) c.5572T>A (p.Phe1858Ile) c.9466T>A (p.Phe3156Ile) c.9457T>A (p.Phe3153Ile) c.9472T>A (p.Phe3158Ile) c.3769T>A (p.Phe1257Ile) | |
X | g.31206637A>C | CA515857072 | DMD | c.4440T>G (p.Ser1480=) c.390T>G (p.Ser130=) n.392T>G c.2214T>G (p.Ser738=) n.1111T>G n.693T>G n.1112T>G n.3086T>G c.1449T>G (p.Ser483=) c.9594T>G (p.Ser3198=) c.5562T>G (p.Ser1854=) c.267T>G (p.Ser89=) c.333T>G (p.Ser111=) n.524T>G c.1407T>G (p.Ser469=) c.2682T>G (p.Ser894=) c.9582T>G (p.Ser3194=) c.9579T>G (p.Ser3193=) c.9591T>G (p.Ser3197=) c.9570T>G (p.Ser3190=) c.9225T>G (p.Ser3075=) c.5571T>G (p.Ser1857=) c.9465T>G (p.Ser3155=) c.9456T>G (p.Ser3152=) c.9471T>G (p.Ser3157=) c.3768T>G (p.Ser1256=) | |
X | g.31206637A>G | CA515857074 | DMD | c.4440T>C (p.Ser1480=) c.390T>C (p.Ser130=) n.392T>C c.2214T>C (p.Ser738=) n.1111T>C n.693T>C n.1112T>C n.3086T>C c.1449T>C (p.Ser483=) c.9594T>C (p.Ser3198=) c.5562T>C (p.Ser1854=) c.267T>C (p.Ser89=) c.333T>C (p.Ser111=) n.524T>C c.1407T>C (p.Ser469=) c.2682T>C (p.Ser894=) c.9582T>C (p.Ser3194=) c.9579T>C (p.Ser3193=) c.9591T>C (p.Ser3197=) c.9570T>C (p.Ser3190=) c.9225T>C (p.Ser3075=) c.5571T>C (p.Ser1857=) c.9465T>C (p.Ser3155=) c.9456T>C (p.Ser3152=) c.9471T>C (p.Ser3157=) c.3768T>C (p.Ser1256=) | gnomAD v4 |
X | g.31206637A>T | CA515857073 | DMD | c.4440T>A (p.Ser1480=) c.390T>A (p.Ser130=) n.392T>A c.2214T>A (p.Ser738=) n.1111T>A n.693T>A n.1112T>A n.3086T>A c.1449T>A (p.Ser483=) c.9594T>A (p.Ser3198=) c.5562T>A (p.Ser1854=) c.267T>A (p.Ser89=) c.333T>A (p.Ser111=) n.524T>A c.1407T>A (p.Ser469=) c.2682T>A (p.Ser894=) c.9582T>A (p.Ser3194=) c.9579T>A (p.Ser3193=) c.9591T>A (p.Ser3197=) c.9570T>A (p.Ser3190=) c.9225T>A (p.Ser3075=) c.5571T>A (p.Ser1857=) c.9465T>A (p.Ser3155=) c.9456T>A (p.Ser3152=) c.9471T>A (p.Ser3157=) c.3768T>A (p.Ser1256=) | ClinVar dbSNP gnomAD v4 |
X | g.31206638G>A | CA412649543 | DMD | c.4439C>T (p.Ser1480Phe) c.389C>T (p.Ser130Phe) n.391C>T c.2213C>T (p.Ser738Phe) n.1110C>T n.692C>T n.1111C>T n.3085C>T c.1448C>T (p.Ser483Phe) c.9593C>T (p.Ser3198Phe) c.5561C>T (p.Ser1854Phe) c.266C>T (p.Ser89Phe) c.332C>T (p.Ser111Phe) n.523C>T c.1406C>T (p.Ser469Phe) c.2681C>T (p.Ser894Phe) c.9581C>T (p.Ser3194Phe) c.9578C>T (p.Ser3193Phe) c.9590C>T (p.Ser3197Phe) c.9569C>T (p.Ser3190Phe) c.9224C>T (p.Ser3075Phe) c.5570C>T (p.Ser1857Phe) c.9464C>T (p.Ser3155Phe) c.9455C>T (p.Ser3152Phe) c.9470C>T (p.Ser3157Phe) c.3767C>T (p.Ser1256Phe) | |
X | g.31206638G>C | CA412649544 | DMD | c.4439C>G (p.Ser1480Cys) c.389C>G (p.Ser130Cys) n.391C>G c.2213C>G (p.Ser738Cys) n.1110C>G n.692C>G n.1111C>G n.3085C>G c.1448C>G (p.Ser483Cys) c.9593C>G (p.Ser3198Cys) c.5561C>G (p.Ser1854Cys) c.266C>G (p.Ser89Cys) c.332C>G (p.Ser111Cys) n.523C>G c.1406C>G (p.Ser469Cys) c.2681C>G (p.Ser894Cys) c.9581C>G (p.Ser3194Cys) c.9578C>G (p.Ser3193Cys) c.9590C>G (p.Ser3197Cys) c.9569C>G (p.Ser3190Cys) c.9224C>G (p.Ser3075Cys) c.5570C>G (p.Ser1857Cys) c.9464C>G (p.Ser3155Cys) c.9455C>G (p.Ser3152Cys) c.9470C>G (p.Ser3157Cys) c.3767C>G (p.Ser1256Cys) | |
X | g.31206638G>T | CA412649545 | DMD | c.4439C>A (p.Ser1480Tyr) c.389C>A (p.Ser130Tyr) n.391C>A c.2213C>A (p.Ser738Tyr) n.1110C>A n.692C>A n.1111C>A n.3085C>A c.1448C>A (p.Ser483Tyr) c.9593C>A (p.Ser3198Tyr) c.5561C>A (p.Ser1854Tyr) c.266C>A (p.Ser89Tyr) c.332C>A (p.Ser111Tyr) n.523C>A c.1406C>A (p.Ser469Tyr) c.2681C>A (p.Ser894Tyr) c.9581C>A (p.Ser3194Tyr) c.9578C>A (p.Ser3193Tyr) c.9590C>A (p.Ser3197Tyr) c.9569C>A (p.Ser3190Tyr) c.9224C>A (p.Ser3075Tyr) c.5570C>A (p.Ser1857Tyr) c.9464C>A (p.Ser3155Tyr) c.9455C>A (p.Ser3152Tyr) c.9470C>A (p.Ser3157Tyr) c.3767C>A (p.Ser1256Tyr) | |
X | g.31206639A= | CA2422348459 | DMD | c.4438T= (p.Ser1480=) c.388T= (p.Ser130=) n.390T= c.2212T= (p.Ser738=) n.1109T= n.691T= n.1110T= n.3084T= c.1447T= (p.Ser483=) c.9592T= (p.Ser3198=) c.5560T= (p.Ser1854=) c.265T= (p.Ser89=) c.331T= (p.Ser111=) n.522T= c.1405T= (p.Ser469=) c.2680T= (p.Ser894=) c.9580T= (p.Ser3194=) c.9577T= (p.Ser3193=) c.9589T= (p.Ser3197=) c.9568T= (p.Ser3190=) c.9223T= (p.Ser3075=) c.5569T= (p.Ser1857=) c.9463T= (p.Ser3155=) c.9454T= (p.Ser3152=) c.9469T= (p.Ser3157=) c.3766T= (p.Ser1256=) | |
X | g.31206639A>C | CA412649548 | DMD | c.4438T>G (p.Ser1480Ala) c.388T>G (p.Ser130Ala) n.390T>G c.2212T>G (p.Ser738Ala) n.1109T>G n.691T>G n.1110T>G n.3084T>G c.1447T>G (p.Ser483Ala) c.9592T>G (p.Ser3198Ala) c.5560T>G (p.Ser1854Ala) c.265T>G (p.Ser89Ala) c.331T>G (p.Ser111Ala) n.522T>G c.1405T>G (p.Ser469Ala) c.2680T>G (p.Ser894Ala) c.9580T>G (p.Ser3194Ala) c.9577T>G (p.Ser3193Ala) c.9589T>G (p.Ser3197Ala) c.9568T>G (p.Ser3190Ala) c.9223T>G (p.Ser3075Ala) c.5569T>G (p.Ser1857Ala) c.9463T>G (p.Ser3155Ala) c.9454T>G (p.Ser3152Ala) c.9469T>G (p.Ser3157Ala) c.3766T>G (p.Ser1256Ala) | dbSNP |
X | g.31206639A>G | CA412649549 | DMD | c.4438T>C (p.Ser1480Pro) c.388T>C (p.Ser130Pro) n.390T>C c.2212T>C (p.Ser738Pro) n.1109T>C n.691T>C n.1110T>C n.3084T>C c.1447T>C (p.Ser483Pro) c.9592T>C (p.Ser3198Pro) c.5560T>C (p.Ser1854Pro) c.265T>C (p.Ser89Pro) c.331T>C (p.Ser111Pro) n.522T>C c.1405T>C (p.Ser469Pro) c.2680T>C (p.Ser894Pro) c.9580T>C (p.Ser3194Pro) c.9577T>C (p.Ser3193Pro) c.9589T>C (p.Ser3197Pro) c.9568T>C (p.Ser3190Pro) c.9223T>C (p.Ser3075Pro) c.5569T>C (p.Ser1857Pro) c.9463T>C (p.Ser3155Pro) c.9454T>C (p.Ser3152Pro) c.9469T>C (p.Ser3157Pro) c.3766T>C (p.Ser1256Pro) | |
X | g.31206639A>T | CA412649551 | DMD | c.4438T>A (p.Ser1480Thr) c.388T>A (p.Ser130Thr) n.390T>A c.2212T>A (p.Ser738Thr) n.1109T>A n.691T>A n.1110T>A n.3084T>A c.1447T>A (p.Ser483Thr) c.9592T>A (p.Ser3198Thr) c.5560T>A (p.Ser1854Thr) c.265T>A (p.Ser89Thr) c.331T>A (p.Ser111Thr) n.522T>A c.1405T>A (p.Ser469Thr) c.2680T>A (p.Ser894Thr) c.9580T>A (p.Ser3194Thr) c.9577T>A (p.Ser3193Thr) c.9589T>A (p.Ser3197Thr) c.9568T>A (p.Ser3190Thr) c.9223T>A (p.Ser3075Thr) c.5569T>A (p.Ser1857Thr) c.9463T>A (p.Ser3155Thr) c.9454T>A (p.Ser3152Thr) c.9469T>A (p.Ser3157Thr) c.3766T>A (p.Ser1256Thr) | |
X | g.31206640C>A | CA515857075 | DMD | c.4437G>T (p.Leu1479=) c.387G>T (p.Leu129=) n.389G>T c.2211G>T (p.Leu737=) n.1108G>T n.690G>T n.1109G>T n.3083G>T c.1446G>T (p.Leu482=) c.9591G>T (p.Leu3197=) c.5559G>T (p.Leu1853=) c.264G>T (p.Leu88=) c.330G>T (p.Leu110=) n.521G>T c.1404G>T (p.Leu468=) c.2679G>T (p.Leu893=) c.9579G>T (p.Leu3193=) c.9576G>T (p.Leu3192=) c.9588G>T (p.Leu3196=) c.9567G>T (p.Leu3189=) c.9222G>T (p.Leu3074=) c.5568G>T (p.Leu1856=) c.9462G>T (p.Leu3154=) c.9453G>T (p.Leu3151=) c.9468G>T (p.Leu3156=) c.3765G>T (p.Leu1255=) | |
X | g.31206640C= | CA2422348460 | DMD | c.4437G= (p.Leu1479=) c.387G= (p.Leu129=) n.389G= c.2211G= (p.Leu737=) n.1108G= n.690G= n.1109G= n.3083G= c.1446G= (p.Leu482=) c.9591G= (p.Leu3197=) c.5559G= (p.Leu1853=) c.264G= (p.Leu88=) c.330G= (p.Leu110=) n.521G= c.1404G= (p.Leu468=) c.2679G= (p.Leu893=) c.9579G= (p.Leu3193=) c.9576G= (p.Leu3192=) c.9588G= (p.Leu3196=) c.9567G= (p.Leu3189=) c.9222G= (p.Leu3074=) c.5568G= (p.Leu1856=) c.9462G= (p.Leu3154=) c.9453G= (p.Leu3151=) c.9468G= (p.Leu3156=) c.3765G= (p.Leu1255=) | |
X | g.31206640C>G | CA515857076 | DMD | c.4437G>C (p.Leu1479=) c.387G>C (p.Leu129=) n.389G>C c.2211G>C (p.Leu737=) n.1108G>C n.690G>C n.1109G>C n.3083G>C c.1446G>C (p.Leu482=) c.9591G>C (p.Leu3197=) c.5559G>C (p.Leu1853=) c.264G>C (p.Leu88=) c.330G>C (p.Leu110=) n.521G>C c.1404G>C (p.Leu468=) c.2679G>C (p.Leu893=) c.9579G>C (p.Leu3193=) c.9576G>C (p.Leu3192=) c.9588G>C (p.Leu3196=) c.9567G>C (p.Leu3189=) c.9222G>C (p.Leu3074=) c.5568G>C (p.Leu1856=) c.9462G>C (p.Leu3154=) c.9453G>C (p.Leu3151=) c.9468G>C (p.Leu3156=) c.3765G>C (p.Leu1255=) | |
X | g.31206640C>T | CA10377772 | DMD | c.4437G>A (p.Leu1479=) c.387G>A (p.Leu129=) n.389G>A c.2211G>A (p.Leu737=) n.1108G>A n.690G>A n.1109G>A n.3083G>A c.1446G>A (p.Leu482=) c.9591G>A (p.Leu3197=) c.5559G>A (p.Leu1853=) c.264G>A (p.Leu88=) c.330G>A (p.Leu110=) n.521G>A c.1404G>A (p.Leu468=) c.2679G>A (p.Leu893=) c.9579G>A (p.Leu3193=) c.9576G>A (p.Leu3192=) c.9588G>A (p.Leu3196=) c.9567G>A (p.Leu3189=) c.9222G>A (p.Leu3074=) c.5568G>A (p.Leu1856=) c.9462G>A (p.Leu3154=) c.9453G>A (p.Leu3151=) c.9468G>A (p.Leu3156=) c.3765G>A (p.Leu1255=) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.31206641A>C | CA412649555 | DMD | c.4436T>G (p.Leu1479Arg) c.386T>G (p.Leu129Arg) n.388T>G c.2210T>G (p.Leu737Arg) n.1107T>G n.689T>G n.1108T>G n.3082T>G c.1445T>G (p.Leu482Arg) c.9590T>G (p.Leu3197Arg) c.5558T>G (p.Leu1853Arg) c.263T>G (p.Leu88Arg) c.329T>G (p.Leu110Arg) n.520T>G c.1403T>G (p.Leu468Arg) c.2678T>G (p.Leu893Arg) c.9578T>G (p.Leu3193Arg) c.9575T>G (p.Leu3192Arg) c.9587T>G (p.Leu3196Arg) c.9566T>G (p.Leu3189Arg) c.9221T>G (p.Leu3074Arg) c.5567T>G (p.Leu1856Arg) c.9461T>G (p.Leu3154Arg) c.9452T>G (p.Leu3151Arg) c.9467T>G (p.Leu3156Arg) c.3764T>G (p.Leu1255Arg) | |
X | g.31206641A>G | CA412649557 | DMD | c.4436T>C (p.Leu1479Pro) c.386T>C (p.Leu129Pro) n.388T>C c.2210T>C (p.Leu737Pro) n.1107T>C n.689T>C n.1108T>C n.3082T>C c.1445T>C (p.Leu482Pro) c.9590T>C (p.Leu3197Pro) c.5558T>C (p.Leu1853Pro) c.263T>C (p.Leu88Pro) c.329T>C (p.Leu110Pro) n.520T>C c.1403T>C (p.Leu468Pro) c.2678T>C (p.Leu893Pro) c.9578T>C (p.Leu3193Pro) c.9575T>C (p.Leu3192Pro) c.9587T>C (p.Leu3196Pro) c.9566T>C (p.Leu3189Pro) c.9221T>C (p.Leu3074Pro) c.5567T>C (p.Leu1856Pro) c.9461T>C (p.Leu3154Pro) c.9452T>C (p.Leu3151Pro) c.9467T>C (p.Leu3156Pro) c.3764T>C (p.Leu1255Pro) | |
X | g.31206641A>T | CA412649558 | DMD | c.4436T>A (p.Leu1479Gln) c.386T>A (p.Leu129Gln) n.388T>A c.2210T>A (p.Leu737Gln) n.1107T>A n.689T>A n.1108T>A n.3082T>A c.1445T>A (p.Leu482Gln) c.9590T>A (p.Leu3197Gln) c.5558T>A (p.Leu1853Gln) c.263T>A (p.Leu88Gln) c.329T>A (p.Leu110Gln) n.520T>A c.1403T>A (p.Leu468Gln) c.2678T>A (p.Leu893Gln) c.9578T>A (p.Leu3193Gln) c.9575T>A (p.Leu3192Gln) c.9587T>A (p.Leu3196Gln) c.9566T>A (p.Leu3189Gln) c.9221T>A (p.Leu3074Gln) c.5567T>A (p.Leu1856Gln) c.9461T>A (p.Leu3154Gln) c.9452T>A (p.Leu3151Gln) c.9467T>A (p.Leu3156Gln) c.3764T>A (p.Leu1255Gln) | |
X | g.31206642G>A | CA515857077 | DMD | c.4435C>T (p.Leu1479=) c.385C>T (p.Leu129=) n.387C>T c.2209C>T (p.Leu737=) n.1106C>T n.688C>T n.1107C>T n.3081C>T c.1444C>T (p.Leu482=) c.9589C>T (p.Leu3197=) c.5557C>T (p.Leu1853=) c.262C>T (p.Leu88=) c.328C>T (p.Leu110=) n.519C>T c.1402C>T (p.Leu468=) c.2677C>T (p.Leu893=) c.9577C>T (p.Leu3193=) c.9574C>T (p.Leu3192=) c.9586C>T (p.Leu3196=) c.9565C>T (p.Leu3189=) c.9220C>T (p.Leu3074=) c.5566C>T (p.Leu1856=) c.9460C>T (p.Leu3154=) c.9451C>T (p.Leu3151=) c.9466C>T (p.Leu3156=) c.3763C>T (p.Leu1255=) | |
X | g.31206642G>C | CA412649560 | DMD | c.4435C>G (p.Leu1479Val) c.385C>G (p.Leu129Val) n.387C>G c.2209C>G (p.Leu737Val) n.1106C>G n.688C>G n.1107C>G n.3081C>G c.1444C>G (p.Leu482Val) c.9589C>G (p.Leu3197Val) c.5557C>G (p.Leu1853Val) c.262C>G (p.Leu88Val) c.328C>G (p.Leu110Val) n.519C>G c.1402C>G (p.Leu468Val) c.2677C>G (p.Leu893Val) c.9577C>G (p.Leu3193Val) c.9574C>G (p.Leu3192Val) c.9586C>G (p.Leu3196Val) c.9565C>G (p.Leu3189Val) c.9220C>G (p.Leu3074Val) c.5566C>G (p.Leu1856Val) c.9460C>G (p.Leu3154Val) c.9451C>G (p.Leu3151Val) c.9466C>G (p.Leu3156Val) c.3763C>G (p.Leu1255Val) | |
X | g.31206642G>T | CA412649561 | DMD | c.4435C>A (p.Leu1479Met) c.385C>A (p.Leu129Met) n.387C>A c.2209C>A (p.Leu737Met) n.1106C>A n.688C>A n.1107C>A n.3081C>A c.1444C>A (p.Leu482Met) c.9589C>A (p.Leu3197Met) c.5557C>A (p.Leu1853Met) c.262C>A (p.Leu88Met) c.328C>A (p.Leu110Met) n.519C>A c.1402C>A (p.Leu468Met) c.2677C>A (p.Leu893Met) c.9577C>A (p.Leu3193Met) c.9574C>A (p.Leu3192Met) c.9586C>A (p.Leu3196Met) c.9565C>A (p.Leu3189Met) c.9220C>A (p.Leu3074Met) c.5566C>A (p.Leu1856Met) c.9460C>A (p.Leu3154Met) c.9451C>A (p.Leu3151Met) c.9466C>A (p.Leu3156Met) c.3763C>A (p.Leu1255Met) | |
X | g.31206643G>A | CA515857078 | DMD | c.4434C>T (p.Val1478=) c.384C>T (p.Val128=) n.386C>T c.2208C>T (p.Val736=) n.1105C>T n.687C>T n.1106C>T n.3080C>T c.1443C>T (p.Val481=) c.9588C>T (p.Val3196=) c.5556C>T (p.Val1852=) c.261C>T (p.Val87=) c.327C>T (p.Val109=) n.518C>T c.1401C>T (p.Val467=) c.2676C>T (p.Val892=) c.9576C>T (p.Val3192=) c.9573C>T (p.Val3191=) c.9585C>T (p.Val3195=) c.9564C>T (p.Val3188=) c.9219C>T (p.Val3073=) c.5565C>T (p.Val1855=) c.9459C>T (p.Val3153=) c.9450C>T (p.Val3150=) c.9465C>T (p.Val3155=) c.3762C>T (p.Val1254=) | |
X | g.31206643G>C | CA10377773 | DMD | c.4434C>G (p.Val1478=) c.384C>G (p.Val128=) n.386C>G c.2208C>G (p.Val736=) n.1105C>G n.687C>G n.1106C>G n.3080C>G c.1443C>G (p.Val481=) c.9588C>G (p.Val3196=) c.5556C>G (p.Val1852=) c.261C>G (p.Val87=) c.327C>G (p.Val109=) n.518C>G c.1401C>G (p.Val467=) c.2676C>G (p.Val892=) c.9576C>G (p.Val3192=) c.9573C>G (p.Val3191=) c.9585C>G (p.Val3195=) c.9564C>G (p.Val3188=) c.9219C>G (p.Val3073=) c.5565C>G (p.Val1855=) c.9459C>G (p.Val3153=) c.9450C>G (p.Val3150=) c.9465C>G (p.Val3155=) c.3762C>G (p.Val1254=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31206643G= | CA2422348461 | DMD | c.4434C= (p.Val1478=) c.384C= (p.Val128=) n.386C= c.2208C= (p.Val736=) n.1105C= n.687C= n.1106C= n.3080C= c.1443C= (p.Val481=) c.9588C= (p.Val3196=) c.5556C= (p.Val1852=) c.261C= (p.Val87=) c.327C= (p.Val109=) n.518C= c.1401C= (p.Val467=) c.2676C= (p.Val892=) c.9576C= (p.Val3192=) c.9573C= (p.Val3191=) c.9585C= (p.Val3195=) c.9564C= (p.Val3188=) c.9219C= (p.Val3073=) c.5565C= (p.Val1855=) c.9459C= (p.Val3153=) c.9450C= (p.Val3150=) c.9465C= (p.Val3155=) c.3762C= (p.Val1254=) | |
X | g.31206643G>T | CA515857079 | DMD | c.4434C>A (p.Val1478=) c.384C>A (p.Val128=) n.386C>A c.2208C>A (p.Val736=) n.1105C>A n.687C>A n.1106C>A n.3080C>A c.1443C>A (p.Val481=) c.9588C>A (p.Val3196=) c.5556C>A (p.Val1852=) c.261C>A (p.Val87=) c.327C>A (p.Val109=) n.518C>A c.1401C>A (p.Val467=) c.2676C>A (p.Val892=) c.9576C>A (p.Val3192=) c.9573C>A (p.Val3191=) c.9585C>A (p.Val3195=) c.9564C>A (p.Val3188=) c.9219C>A (p.Val3073=) c.5565C>A (p.Val1855=) c.9459C>A (p.Val3153=) c.9450C>A (p.Val3150=) c.9465C>A (p.Val3155=) c.3762C>A (p.Val1254=) | |
X | g.31206644A>C | CA412649568 | DMD | c.4433T>G (p.Val1478Gly) c.383T>G (p.Val128Gly) n.385T>G c.2207T>G (p.Val736Gly) n.1104T>G n.686T>G n.1105T>G n.3079T>G c.1442T>G (p.Val481Gly) c.9587T>G (p.Val3196Gly) c.5555T>G (p.Val1852Gly) c.260T>G (p.Val87Gly) c.326T>G (p.Val109Gly) n.517T>G c.1400T>G (p.Val467Gly) c.2675T>G (p.Val892Gly) c.9575T>G (p.Val3192Gly) c.9572T>G (p.Val3191Gly) c.9584T>G (p.Val3195Gly) c.9563T>G (p.Val3188Gly) c.9218T>G (p.Val3073Gly) c.5564T>G (p.Val1855Gly) c.9458T>G (p.Val3153Gly) c.9449T>G (p.Val3150Gly) c.9464T>G (p.Val3155Gly) c.3761T>G (p.Val1254Gly) | |
X | g.31206644A>G | CA412649565 | DMD | c.4433T>C (p.Val1478Ala) c.383T>C (p.Val128Ala) n.385T>C c.2207T>C (p.Val736Ala) n.1104T>C n.686T>C n.1105T>C n.3079T>C c.1442T>C (p.Val481Ala) c.9587T>C (p.Val3196Ala) c.5555T>C (p.Val1852Ala) c.260T>C (p.Val87Ala) c.326T>C (p.Val109Ala) n.517T>C c.1400T>C (p.Val467Ala) c.2675T>C (p.Val892Ala) c.9575T>C (p.Val3192Ala) c.9572T>C (p.Val3191Ala) c.9584T>C (p.Val3195Ala) c.9563T>C (p.Val3188Ala) c.9218T>C (p.Val3073Ala) c.5564T>C (p.Val1855Ala) c.9458T>C (p.Val3153Ala) c.9449T>C (p.Val3150Ala) c.9464T>C (p.Val3155Ala) c.3761T>C (p.Val1254Ala) | |
X | g.31206644A>T | CA412649564 | DMD | c.4433T>A (p.Val1478Asp) c.383T>A (p.Val128Asp) n.385T>A c.2207T>A (p.Val736Asp) n.1104T>A n.686T>A n.1105T>A n.3079T>A c.1442T>A (p.Val481Asp) c.9587T>A (p.Val3196Asp) c.5555T>A (p.Val1852Asp) c.260T>A (p.Val87Asp) c.326T>A (p.Val109Asp) n.517T>A c.1400T>A (p.Val467Asp) c.2675T>A (p.Val892Asp) c.9575T>A (p.Val3192Asp) c.9572T>A (p.Val3191Asp) c.9584T>A (p.Val3195Asp) c.9563T>A (p.Val3188Asp) c.9218T>A (p.Val3073Asp) c.5564T>A (p.Val1855Asp) c.9458T>A (p.Val3153Asp) c.9449T>A (p.Val3150Asp) c.9464T>A (p.Val3155Asp) c.3761T>A (p.Val1254Asp) | |
X | g.31206645C>A | CA412649569 | DMD | c.4432G>T (p.Val1478Phe) c.382G>T (p.Val128Phe) n.384G>T c.2206G>T (p.Val736Phe) n.1103G>T n.685G>T n.1104G>T n.3078G>T c.1441G>T (p.Val481Phe) c.9586G>T (p.Val3196Phe) c.5554G>T (p.Val1852Phe) c.259G>T (p.Val87Phe) c.325G>T (p.Val109Phe) n.516G>T c.1399G>T (p.Val467Phe) c.2674G>T (p.Val892Phe) c.9574G>T (p.Val3192Phe) c.9571G>T (p.Val3191Phe) c.9583G>T (p.Val3195Phe) c.9562G>T (p.Val3188Phe) c.9217G>T (p.Val3073Phe) c.5563G>T (p.Val1855Phe) c.9457G>T (p.Val3153Phe) c.9448G>T (p.Val3150Phe) c.9463G>T (p.Val3155Phe) c.3760G>T (p.Val1254Phe) | |
X | g.31206645C>G | CA412649570 | DMD | c.4432G>C (p.Val1478Leu) c.382G>C (p.Val128Leu) n.384G>C c.2206G>C (p.Val736Leu) n.1103G>C n.685G>C n.1104G>C n.3078G>C c.1441G>C (p.Val481Leu) c.9586G>C (p.Val3196Leu) c.5554G>C (p.Val1852Leu) c.259G>C (p.Val87Leu) c.325G>C (p.Val109Leu) n.516G>C c.1399G>C (p.Val467Leu) c.2674G>C (p.Val892Leu) c.9574G>C (p.Val3192Leu) c.9571G>C (p.Val3191Leu) c.9583G>C (p.Val3195Leu) c.9562G>C (p.Val3188Leu) c.9217G>C (p.Val3073Leu) c.5563G>C (p.Val1855Leu) c.9457G>C (p.Val3153Leu) c.9448G>C (p.Val3150Leu) c.9463G>C (p.Val3155Leu) c.3760G>C (p.Val1254Leu) | |
X | g.31206645C>T | CA412649572 | DMD | c.4432G>A (p.Val1478Ile) c.382G>A (p.Val128Ile) n.384G>A c.2206G>A (p.Val736Ile) n.1103G>A n.685G>A n.1104G>A n.3078G>A c.1441G>A (p.Val481Ile) c.9586G>A (p.Val3196Ile) c.5554G>A (p.Val1852Ile) c.259G>A (p.Val87Ile) c.325G>A (p.Val109Ile) n.516G>A c.1399G>A (p.Val467Ile) c.2674G>A (p.Val892Ile) c.9574G>A (p.Val3192Ile) c.9571G>A (p.Val3191Ile) c.9583G>A (p.Val3195Ile) c.9562G>A (p.Val3188Ile) c.9217G>A (p.Val3073Ile) c.5563G>A (p.Val1855Ile) c.9457G>A (p.Val3153Ile) c.9448G>A (p.Val3150Ile) c.9463G>A (p.Val3155Ile) c.3760G>A (p.Val1254Ile) | |
X | g.31206646A>C | CA515857081 | DMD | c.4431T>G (p.Arg1477=) c.381T>G (p.Arg127=) n.383T>G c.2205T>G (p.Arg735=) n.1102T>G n.684T>G n.1103T>G n.3077T>G c.1440T>G (p.Arg480=) c.9585T>G (p.Arg3195=) c.5553T>G (p.Arg1851=) c.258T>G (p.Arg86=) c.324T>G (p.Arg108=) n.515T>G c.1398T>G (p.Arg466=) c.2673T>G (p.Arg891=) c.9573T>G (p.Arg3191=) c.9570T>G (p.Arg3190=) c.9582T>G (p.Arg3194=) c.9561T>G (p.Arg3187=) c.9216T>G (p.Arg3072=) c.5562T>G (p.Arg1854=) c.9456T>G (p.Arg3152=) c.9447T>G (p.Arg3149=) c.9462T>G (p.Arg3154=) c.3759T>G (p.Arg1253=) | |
X | g.31206646A>G | CA515857082 | DMD | c.4431T>C (p.Arg1477=) c.381T>C (p.Arg127=) n.383T>C c.2205T>C (p.Arg735=) n.1102T>C n.684T>C n.1103T>C n.3077T>C c.1440T>C (p.Arg480=) c.9585T>C (p.Arg3195=) c.5553T>C (p.Arg1851=) c.258T>C (p.Arg86=) c.324T>C (p.Arg108=) n.515T>C c.1398T>C (p.Arg466=) c.2673T>C (p.Arg891=) c.9573T>C (p.Arg3191=) c.9570T>C (p.Arg3190=) c.9582T>C (p.Arg3194=) c.9561T>C (p.Arg3187=) c.9216T>C (p.Arg3072=) c.5562T>C (p.Arg1854=) c.9456T>C (p.Arg3152=) c.9447T>C (p.Arg3149=) c.9462T>C (p.Arg3154=) c.3759T>C (p.Arg1253=) | |
X | g.31206646A>T | CA515857080 | DMD | c.4431T>A (p.Arg1477=) c.381T>A (p.Arg127=) n.383T>A c.2205T>A (p.Arg735=) n.1102T>A n.684T>A n.1103T>A n.3077T>A c.1440T>A (p.Arg480=) c.9585T>A (p.Arg3195=) c.5553T>A (p.Arg1851=) c.258T>A (p.Arg86=) c.324T>A (p.Arg108=) n.515T>A c.1398T>A (p.Arg466=) c.2673T>A (p.Arg891=) c.9573T>A (p.Arg3191=) c.9570T>A (p.Arg3190=) c.9582T>A (p.Arg3194=) c.9561T>A (p.Arg3187=) c.9216T>A (p.Arg3072=) c.5562T>A (p.Arg1854=) c.9456T>A (p.Arg3152=) c.9447T>A (p.Arg3149=) c.9462T>A (p.Arg3154=) c.3759T>A (p.Arg1253=) | |
X | g.31206647C>A | CA412649574 | DMD | c.4430G>T (p.Arg1477Leu) c.380G>T (p.Arg127Leu) n.382G>T c.2204G>T (p.Arg735Leu) n.1101G>T n.683G>T n.1102G>T n.3076G>T c.1439G>T (p.Arg480Leu) c.9584G>T (p.Arg3195Leu) c.5552G>T (p.Arg1851Leu) c.257G>T (p.Arg86Leu) c.323G>T (p.Arg108Leu) n.514G>T c.1397G>T (p.Arg466Leu) c.2672G>T (p.Arg891Leu) c.9572G>T (p.Arg3191Leu) c.9569G>T (p.Arg3190Leu) c.9581G>T (p.Arg3194Leu) c.9560G>T (p.Arg3187Leu) c.9215G>T (p.Arg3072Leu) c.5561G>T (p.Arg1854Leu) c.9455G>T (p.Arg3152Leu) c.9446G>T (p.Arg3149Leu) c.9461G>T (p.Arg3154Leu) c.3758G>T (p.Arg1253Leu) | |
X | g.31206647C= | CA2422348462 | DMD | c.4430G= (p.Arg1477=) c.380G= (p.Arg127=) n.382G= c.2204G= (p.Arg735=) n.1101G= n.683G= n.1102G= n.3076G= c.1439G= (p.Arg480=) c.9584G= (p.Arg3195=) c.5552G= (p.Arg1851=) c.257G= (p.Arg86=) c.323G= (p.Arg108=) n.514G= c.1397G= (p.Arg466=) c.2672G= (p.Arg891=) c.9572G= (p.Arg3191=) c.9569G= (p.Arg3190=) c.9581G= (p.Arg3194=) c.9560G= (p.Arg3187=) c.9215G= (p.Arg3072=) c.5561G= (p.Arg1854=) c.9455G= (p.Arg3152=) c.9446G= (p.Arg3149=) c.9461G= (p.Arg3154=) c.3758G= (p.Arg1253=) | |
X | g.31206647C>G | CA412649575 | DMD | c.4430G>C (p.Arg1477Pro) c.380G>C (p.Arg127Pro) n.382G>C c.2204G>C (p.Arg735Pro) n.1101G>C n.683G>C n.1102G>C n.3076G>C c.1439G>C (p.Arg480Pro) c.9584G>C (p.Arg3195Pro) c.5552G>C (p.Arg1851Pro) c.257G>C (p.Arg86Pro) c.323G>C (p.Arg108Pro) n.514G>C c.1397G>C (p.Arg466Pro) c.2672G>C (p.Arg891Pro) c.9572G>C (p.Arg3191Pro) c.9569G>C (p.Arg3190Pro) c.9581G>C (p.Arg3194Pro) c.9560G>C (p.Arg3187Pro) c.9215G>C (p.Arg3072Pro) c.5561G>C (p.Arg1854Pro) c.9455G>C (p.Arg3152Pro) c.9446G>C (p.Arg3149Pro) c.9461G>C (p.Arg3154Pro) c.3758G>C (p.Arg1253Pro) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31206647C>T | CA10377774 | DMD | c.4430G>A (p.Arg1477His) c.380G>A (p.Arg127His) n.382G>A c.2204G>A (p.Arg735His) n.1101G>A n.683G>A n.1102G>A n.3076G>A c.1439G>A (p.Arg480His) c.9584G>A (p.Arg3195His) c.5552G>A (p.Arg1851His) c.257G>A (p.Arg86His) c.323G>A (p.Arg108His) n.514G>A c.1397G>A (p.Arg466His) c.2672G>A (p.Arg891His) c.9572G>A (p.Arg3191His) c.9569G>A (p.Arg3190His) c.9581G>A (p.Arg3194His) c.9560G>A (p.Arg3187His) c.9215G>A (p.Arg3072His) c.5561G>A (p.Arg1854His) c.9455G>A (p.Arg3152His) c.9446G>A (p.Arg3149His) c.9461G>A (p.Arg3154His) c.3758G>A (p.Arg1253His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
X | g.31206647_31206648insAT | CA2695232314 | DMD | c.4429_4430insAT (p.Arg1477HisfsTer?) c.379_380insAT (p.Arg127HisfsTer?) n.381_382insAT c.2203_2204insAT (p.Arg735HisfsTer?) n.1100_1101insAT n.682_683insAT n.1101_1102insAT n.3075_3076insAT c.1438_1439insAT (p.Arg480HisfsTer?) c.9583_9584insAT (p.Arg3195HisfsTer?) c.5551_5552insAT (p.Arg1851HisfsTer?) c.256_257insAT (p.Arg86HisfsTer?) c.322_323insAT (p.Arg108HisfsTer?) n.513_514insAT c.1396_1397insAT (p.Arg466HisfsTer?) c.2671_2672insAT (p.Arg891HisfsTer?) c.9571_9572insAT (p.Arg3191HisfsTer?) c.9568_9569insAT (p.Arg3190HisfsTer?) c.9580_9581insAT (p.Arg3194HisfsTer?) c.9559_9560insAT (p.Arg3187HisfsTer?) c.9214_9215insAT (p.Arg3072HisfsTer?) c.5560_5561insAT (p.Arg1854HisfsTer?) c.9454_9455insAT (p.Arg3152HisfsTer?) c.9445_9446insAT (p.Arg3149HisfsTer?) c.9460_9461insAT (p.Arg3154HisfsTer?) c.3757_3758insAT (p.Arg1253HisfsTer?) | |
X | g.31206648G>A | CA412649576 | DMD | c.4429C>T (p.Arg1477Cys) c.379C>T (p.Arg127Cys) n.381C>T c.2203C>T (p.Arg735Cys) n.1100C>T n.682C>T n.1101C>T n.3075C>T c.1438C>T (p.Arg480Cys) c.9583C>T (p.Arg3195Cys) c.5551C>T (p.Arg1851Cys) c.256C>T (p.Arg86Cys) c.322C>T (p.Arg108Cys) n.513C>T c.1396C>T (p.Arg466Cys) c.2671C>T (p.Arg891Cys) c.9571C>T (p.Arg3191Cys) c.9568C>T (p.Arg3190Cys) c.9580C>T (p.Arg3194Cys) c.9559C>T (p.Arg3187Cys) c.9214C>T (p.Arg3072Cys) c.5560C>T (p.Arg1854Cys) c.9454C>T (p.Arg3152Cys) c.9445C>T (p.Arg3149Cys) c.9460C>T (p.Arg3154Cys) c.3757C>T (p.Arg1253Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31206648G>C | CA412649579 | DMD | c.4429C>G (p.Arg1477Gly) c.379C>G (p.Arg127Gly) n.381C>G c.2203C>G (p.Arg735Gly) n.1100C>G n.682C>G n.1101C>G n.3075C>G c.1438C>G (p.Arg480Gly) c.9583C>G (p.Arg3195Gly) c.5551C>G (p.Arg1851Gly) c.256C>G (p.Arg86Gly) c.322C>G (p.Arg108Gly) n.513C>G c.1396C>G (p.Arg466Gly) c.2671C>G (p.Arg891Gly) c.9571C>G (p.Arg3191Gly) c.9568C>G (p.Arg3190Gly) c.9580C>G (p.Arg3194Gly) c.9559C>G (p.Arg3187Gly) c.9214C>G (p.Arg3072Gly) c.5560C>G (p.Arg1854Gly) c.9454C>G (p.Arg3152Gly) c.9445C>G (p.Arg3149Gly) c.9460C>G (p.Arg3154Gly) c.3757C>G (p.Arg1253Gly) | |
X | g.31206648G>T | CA412649580 | DMD | c.4429C>A (p.Arg1477Ser) c.379C>A (p.Arg127Ser) n.381C>A c.2203C>A (p.Arg735Ser) n.1100C>A n.682C>A n.1101C>A n.3075C>A c.1438C>A (p.Arg480Ser) c.9583C>A (p.Arg3195Ser) c.5551C>A (p.Arg1851Ser) c.256C>A (p.Arg86Ser) c.322C>A (p.Arg108Ser) n.513C>A c.1396C>A (p.Arg466Ser) c.2671C>A (p.Arg891Ser) c.9571C>A (p.Arg3191Ser) c.9568C>A (p.Arg3190Ser) c.9580C>A (p.Arg3194Ser) c.9559C>A (p.Arg3187Ser) c.9214C>A (p.Arg3072Ser) c.5560C>A (p.Arg1854Ser) c.9454C>A (p.Arg3152Ser) c.9445C>A (p.Arg3149Ser) c.9460C>A (p.Arg3154Ser) c.3757C>A (p.Arg1253Ser) | ClinVar |
X | g.31206649del | CA515857083 | DMD | c.4429del (p.Arg1477ValfsTer?) c.379del (p.Arg127ValfsTer?) n.381del c.2203del (p.Arg735ValfsTer?) n.1100del n.682del n.1101del n.3075del c.1438del (p.Arg480ValfsTer?) c.9583del (p.Arg3195ValfsTer?) c.5551del (p.Arg1851ValfsTer?) c.256del (p.Arg86ValfsTer?) c.322del (p.Arg108ValfsTer?) n.513del c.1396del (p.Arg466ValfsTer?) c.2671del (p.Arg891ValfsTer?) c.9571del (p.Arg3191ValfsTer?) c.9568del (p.Arg3190ValfsTer?) c.9580del (p.Arg3194ValfsTer?) c.9559del (p.Arg3187ValfsTer?) c.9214del (p.Arg3072ValfsTer?) c.5560del (p.Arg1854ValfsTer?) c.9454del (p.Arg3152ValfsTer?) c.9445del (p.Arg3149ValfsTer?) c.9460del (p.Arg3154ValfsTer?) c.3757del (p.Arg1253ValfsTer?) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31206649G>A | CA515857084 | DMD | c.4428C>T (p.Ile1476=) c.378C>T (p.Ile126=) n.380C>T c.2202C>T (p.Ile734=) n.1099C>T n.681C>T n.1100C>T n.3074C>T c.1437C>T (p.Ile479=) c.9582C>T (p.Ile3194=) c.5550C>T (p.Ile1850=) c.255C>T (p.Ile85=) c.321C>T (p.Ile107=) n.512C>T c.1395C>T (p.Ile465=) c.2670C>T (p.Ile890=) c.9570C>T (p.Ile3190=) c.9567C>T (p.Ile3189=) c.9579C>T (p.Ile3193=) c.9558C>T (p.Ile3186=) c.9213C>T (p.Ile3071=) c.5559C>T (p.Ile1853=) c.9453C>T (p.Ile3151=) c.9444C>T (p.Ile3148=) c.9459C>T (p.Ile3153=) c.3756C>T (p.Ile1252=) | |
X | g.31206649G>C | CA412649582 | DMD | c.4428C>G (p.Ile1476Met) c.378C>G (p.Ile126Met) n.380C>G c.2202C>G (p.Ile734Met) n.1099C>G n.681C>G n.1100C>G n.3074C>G c.1437C>G (p.Ile479Met) c.9582C>G (p.Ile3194Met) c.5550C>G (p.Ile1850Met) c.255C>G (p.Ile85Met) c.321C>G (p.Ile107Met) n.512C>G c.1395C>G (p.Ile465Met) c.2670C>G (p.Ile890Met) c.9570C>G (p.Ile3190Met) c.9567C>G (p.Ile3189Met) c.9579C>G (p.Ile3193Met) c.9558C>G (p.Ile3186Met) c.9213C>G (p.Ile3071Met) c.5559C>G (p.Ile1853Met) c.9453C>G (p.Ile3151Met) c.9444C>G (p.Ile3148Met) c.9459C>G (p.Ile3153Met) c.3756C>G (p.Ile1252Met) | |
X | g.31206649G>T | CA515857085 | DMD | c.4428C>A (p.Ile1476=) c.378C>A (p.Ile126=) n.380C>A c.2202C>A (p.Ile734=) n.1099C>A n.681C>A n.1100C>A n.3074C>A c.1437C>A (p.Ile479=) c.9582C>A (p.Ile3194=) c.5550C>A (p.Ile1850=) c.255C>A (p.Ile85=) c.321C>A (p.Ile107=) n.512C>A c.1395C>A (p.Ile465=) c.2670C>A (p.Ile890=) c.9570C>A (p.Ile3190=) c.9567C>A (p.Ile3189=) c.9579C>A (p.Ile3193=) c.9558C>A (p.Ile3186=) c.9213C>A (p.Ile3071=) c.5559C>A (p.Ile1853=) c.9453C>A (p.Ile3151=) c.9444C>A (p.Ile3148=) c.9459C>A (p.Ile3153=) c.3756C>A (p.Ile1252=) | |
X | g.31206650A>C | CA412649584 | DMD | c.4427T>G (p.Ile1476Ser) c.377T>G (p.Ile126Ser) n.379T>G c.2201T>G (p.Ile734Ser) n.1098T>G n.680T>G n.1099T>G n.3073T>G c.1436T>G (p.Ile479Ser) c.9581T>G (p.Ile3194Ser) c.5549T>G (p.Ile1850Ser) c.254T>G (p.Ile85Ser) c.320T>G (p.Ile107Ser) n.511T>G c.1394T>G (p.Ile465Ser) c.2669T>G (p.Ile890Ser) c.9569T>G (p.Ile3190Ser) c.9566T>G (p.Ile3189Ser) c.9578T>G (p.Ile3193Ser) c.9557T>G (p.Ile3186Ser) c.9212T>G (p.Ile3071Ser) c.5558T>G (p.Ile1853Ser) c.9452T>G (p.Ile3151Ser) c.9443T>G (p.Ile3148Ser) c.9458T>G (p.Ile3153Ser) c.3755T>G (p.Ile1252Ser) | |
X | g.31206650A>G | CA412649585 | DMD | c.4427T>C (p.Ile1476Thr) c.377T>C (p.Ile126Thr) n.379T>C c.2201T>C (p.Ile734Thr) n.1098T>C n.680T>C n.1099T>C n.3073T>C c.1436T>C (p.Ile479Thr) c.9581T>C (p.Ile3194Thr) c.5549T>C (p.Ile1850Thr) c.254T>C (p.Ile85Thr) c.320T>C (p.Ile107Thr) n.511T>C c.1394T>C (p.Ile465Thr) c.2669T>C (p.Ile890Thr) c.9569T>C (p.Ile3190Thr) c.9566T>C (p.Ile3189Thr) c.9578T>C (p.Ile3193Thr) c.9557T>C (p.Ile3186Thr) c.9212T>C (p.Ile3071Thr) c.5558T>C (p.Ile1853Thr) c.9452T>C (p.Ile3151Thr) c.9443T>C (p.Ile3148Thr) c.9458T>C (p.Ile3153Thr) c.3755T>C (p.Ile1252Thr) | |
X | g.31206650A>T | CA412649586 | DMD | c.4427T>A (p.Ile1476Asn) c.377T>A (p.Ile126Asn) n.379T>A c.2201T>A (p.Ile734Asn) n.1098T>A n.680T>A n.1099T>A n.3073T>A c.1436T>A (p.Ile479Asn) c.9581T>A (p.Ile3194Asn) c.5549T>A (p.Ile1850Asn) c.254T>A (p.Ile85Asn) c.320T>A (p.Ile107Asn) n.511T>A c.1394T>A (p.Ile465Asn) c.2669T>A (p.Ile890Asn) c.9569T>A (p.Ile3190Asn) c.9566T>A (p.Ile3189Asn) c.9578T>A (p.Ile3193Asn) c.9557T>A (p.Ile3186Asn) c.9212T>A (p.Ile3071Asn) c.5558T>A (p.Ile1853Asn) c.9452T>A (p.Ile3151Asn) c.9443T>A (p.Ile3148Asn) c.9458T>A (p.Ile3153Asn) c.3755T>A (p.Ile1252Asn) | gnomAD v4 |
X | g.31206651T>A | CA412649590 | DMD | c.4426A>T (p.Ile1476Phe) c.376A>T (p.Ile126Phe) n.378A>T c.2200A>T (p.Ile734Phe) n.1097A>T n.679A>T n.1098A>T n.3072A>T c.1435A>T (p.Ile479Phe) c.9580A>T (p.Ile3194Phe) c.5548A>T (p.Ile1850Phe) c.253A>T (p.Ile85Phe) c.319A>T (p.Ile107Phe) n.510A>T c.1393A>T (p.Ile465Phe) c.2668A>T (p.Ile890Phe) c.9568A>T (p.Ile3190Phe) c.9565A>T (p.Ile3189Phe) c.9577A>T (p.Ile3193Phe) c.9556A>T (p.Ile3186Phe) c.9211A>T (p.Ile3071Phe) c.5557A>T (p.Ile1853Phe) c.9451A>T (p.Ile3151Phe) c.9442A>T (p.Ile3148Phe) c.9457A>T (p.Ile3153Phe) c.3754A>T (p.Ile1252Phe) | |
X | g.31206651T>C | CA412649588 | DMD | c.4426A>G (p.Ile1476Val) c.376A>G (p.Ile126Val) n.378A>G c.2200A>G (p.Ile734Val) n.1097A>G n.679A>G n.1098A>G n.3072A>G c.1435A>G (p.Ile479Val) c.9580A>G (p.Ile3194Val) c.5548A>G (p.Ile1850Val) c.253A>G (p.Ile85Val) c.319A>G (p.Ile107Val) n.510A>G c.1393A>G (p.Ile465Val) c.2668A>G (p.Ile890Val) c.9568A>G (p.Ile3190Val) c.9565A>G (p.Ile3189Val) c.9577A>G (p.Ile3193Val) c.9556A>G (p.Ile3186Val) c.9211A>G (p.Ile3071Val) c.5557A>G (p.Ile1853Val) c.9451A>G (p.Ile3151Val) c.9442A>G (p.Ile3148Val) c.9457A>G (p.Ile3153Val) c.3754A>G (p.Ile1252Val) | |
X | g.31206651T>G | CA10377775 | DMD | c.4426A>C (p.Ile1476Leu) c.376A>C (p.Ile126Leu) n.378A>C c.2200A>C (p.Ile734Leu) n.1097A>C n.679A>C n.1098A>C n.3072A>C c.1435A>C (p.Ile479Leu) c.9580A>C (p.Ile3194Leu) c.5548A>C (p.Ile1850Leu) c.253A>C (p.Ile85Leu) c.319A>C (p.Ile107Leu) n.510A>C c.1393A>C (p.Ile465Leu) c.2668A>C (p.Ile890Leu) c.9568A>C (p.Ile3190Leu) c.9565A>C (p.Ile3189Leu) c.9577A>C (p.Ile3193Leu) c.9556A>C (p.Ile3186Leu) c.9211A>C (p.Ile3071Leu) c.5557A>C (p.Ile1853Leu) c.9451A>C (p.Ile3151Leu) c.9442A>C (p.Ile3148Leu) c.9457A>C (p.Ile3153Leu) c.3754A>C (p.Ile1252Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31206651T= | CA2422348463 | DMD | c.4426A= (p.Ile1476=) c.376A= (p.Ile126=) n.378A= c.2200A= (p.Ile734=) n.1097A= n.679A= n.1098A= n.3072A= c.1435A= (p.Ile479=) c.9580A= (p.Ile3194=) c.5548A= (p.Ile1850=) c.253A= (p.Ile85=) c.319A= (p.Ile107=) n.510A= c.1393A= (p.Ile465=) c.2668A= (p.Ile890=) c.9568A= (p.Ile3190=) c.9565A= (p.Ile3189=) c.9577A= (p.Ile3193=) c.9556A= (p.Ile3186=) c.9211A= (p.Ile3071=) c.5557A= (p.Ile1853=) c.9451A= (p.Ile3151=) c.9442A= (p.Ile3148=) c.9457A= (p.Ile3153=) c.3754A= (p.Ile1252=) | |
X | g.31206652C>A | CA412649592 | DMD | c.4425G>T (p.Arg1475Ser) c.375G>T (p.Arg125Ser) n.377G>T c.2199G>T (p.Arg733Ser) n.1096G>T n.678G>T n.1097G>T n.3071G>T c.1434G>T (p.Arg478Ser) c.9579G>T (p.Arg3193Ser) c.5547G>T (p.Arg1849Ser) c.252G>T (p.Arg84Ser) c.318G>T (p.Arg106Ser) n.509G>T c.1392G>T (p.Arg464Ser) c.2667G>T (p.Arg889Ser) c.9567G>T (p.Arg3189Ser) c.9564G>T (p.Arg3188Ser) c.9576G>T (p.Arg3192Ser) c.9555G>T (p.Arg3185Ser) c.9210G>T (p.Arg3070Ser) c.5556G>T (p.Arg1852Ser) c.9450G>T (p.Arg3150Ser) c.9441G>T (p.Arg3147Ser) c.9456G>T (p.Arg3152Ser) c.3753G>T (p.Arg1251Ser) | |
X | g.31206652C>G | CA412649594 | DMD | c.4425G>C (p.Arg1475Ser) c.375G>C (p.Arg125Ser) n.377G>C c.2199G>C (p.Arg733Ser) n.1096G>C n.678G>C n.1097G>C n.3071G>C c.1434G>C (p.Arg478Ser) c.9579G>C (p.Arg3193Ser) c.5547G>C (p.Arg1849Ser) c.252G>C (p.Arg84Ser) c.318G>C (p.Arg106Ser) n.509G>C c.1392G>C (p.Arg464Ser) c.2667G>C (p.Arg889Ser) c.9567G>C (p.Arg3189Ser) c.9564G>C (p.Arg3188Ser) c.9576G>C (p.Arg3192Ser) c.9555G>C (p.Arg3185Ser) c.9210G>C (p.Arg3070Ser) c.5556G>C (p.Arg1852Ser) c.9450G>C (p.Arg3150Ser) c.9441G>C (p.Arg3147Ser) c.9456G>C (p.Arg3152Ser) c.3753G>C (p.Arg1251Ser) | |
X | g.31206652C>T | CA515857086 | DMD | c.4425G>A (p.Arg1475=) c.375G>A (p.Arg125=) n.377G>A c.2199G>A (p.Arg733=) n.1096G>A n.678G>A n.1097G>A n.3071G>A c.1434G>A (p.Arg478=) c.9579G>A (p.Arg3193=) c.5547G>A (p.Arg1849=) c.252G>A (p.Arg84=) c.318G>A (p.Arg106=) n.509G>A c.1392G>A (p.Arg464=) c.2667G>A (p.Arg889=) c.9567G>A (p.Arg3189=) c.9564G>A (p.Arg3188=) c.9576G>A (p.Arg3192=) c.9555G>A (p.Arg3185=) c.9210G>A (p.Arg3070=) c.5556G>A (p.Arg1852=) c.9450G>A (p.Arg3150=) c.9441G>A (p.Arg3147=) c.9456G>A (p.Arg3152=) c.3753G>A (p.Arg1251=) | |
X | g.31206653C>A | CA412649595 | DMD | c.4424G>T (p.Arg1475Met) c.374G>T (p.Arg125Met) n.376G>T c.2198G>T (p.Arg733Met) n.1095G>T n.677G>T n.1096G>T n.3070G>T c.1433G>T (p.Arg478Met) c.9578G>T (p.Arg3193Met) c.5546G>T (p.Arg1849Met) c.251G>T (p.Arg84Met) c.317G>T (p.Arg106Met) n.508G>T c.1391G>T (p.Arg464Met) c.2666G>T (p.Arg889Met) c.9566G>T (p.Arg3189Met) c.9563G>T (p.Arg3188Met) c.9575G>T (p.Arg3192Met) c.9554G>T (p.Arg3185Met) c.9209G>T (p.Arg3070Met) c.5555G>T (p.Arg1852Met) c.9449G>T (p.Arg3150Met) c.9440G>T (p.Arg3147Met) c.9455G>T (p.Arg3152Met) c.3752G>T (p.Arg1251Met) | |
X | g.31206653C>G | CA412649598 | DMD | c.4424G>C (p.Arg1475Thr) c.374G>C (p.Arg125Thr) n.376G>C c.2198G>C (p.Arg733Thr) n.1095G>C n.677G>C n.1096G>C n.3070G>C c.1433G>C (p.Arg478Thr) c.9578G>C (p.Arg3193Thr) c.5546G>C (p.Arg1849Thr) c.251G>C (p.Arg84Thr) c.317G>C (p.Arg106Thr) n.508G>C c.1391G>C (p.Arg464Thr) c.2666G>C (p.Arg889Thr) c.9566G>C (p.Arg3189Thr) c.9563G>C (p.Arg3188Thr) c.9575G>C (p.Arg3192Thr) c.9554G>C (p.Arg3185Thr) c.9209G>C (p.Arg3070Thr) c.5555G>C (p.Arg1852Thr) c.9449G>C (p.Arg3150Thr) c.9440G>C (p.Arg3147Thr) c.9455G>C (p.Arg3152Thr) c.3752G>C (p.Arg1251Thr) | |
X | g.31206653C>T | CA412649596 | DMD | c.4424G>A (p.Arg1475Lys) c.374G>A (p.Arg125Lys) n.376G>A c.2198G>A (p.Arg733Lys) n.1095G>A n.677G>A n.1096G>A n.3070G>A c.1433G>A (p.Arg478Lys) c.9578G>A (p.Arg3193Lys) c.5546G>A (p.Arg1849Lys) c.251G>A (p.Arg84Lys) c.317G>A (p.Arg106Lys) n.508G>A c.1391G>A (p.Arg464Lys) c.2666G>A (p.Arg889Lys) c.9566G>A (p.Arg3189Lys) c.9563G>A (p.Arg3188Lys) c.9575G>A (p.Arg3192Lys) c.9554G>A (p.Arg3185Lys) c.9209G>A (p.Arg3070Lys) c.5555G>A (p.Arg1852Lys) c.9449G>A (p.Arg3150Lys) c.9440G>A (p.Arg3147Lys) c.9455G>A (p.Arg3152Lys) c.3752G>A (p.Arg1251Lys) | |
X | g.31206654del | CA2528492145 | DMD | c.4423del (p.Arg1475GlyfsTer?) c.373del (p.Arg125GlyfsTer?) n.375del c.2197del (p.Arg733GlyfsTer?) n.1094del n.676del n.1095del n.3069del c.1432del (p.Arg478GlyfsTer?) c.9577del (p.Arg3193GlyfsTer?) c.5545del (p.Arg1849GlyfsTer?) c.250del (p.Arg84GlyfsTer?) c.316del (p.Arg106GlyfsTer?) n.507del c.1390del (p.Arg464GlyfsTer?) c.2665del (p.Arg889GlyfsTer?) c.9565del (p.Arg3189GlyfsTer?) c.9562del (p.Arg3188GlyfsTer?) c.9574del (p.Arg3192GlyfsTer?) c.9553del (p.Arg3185GlyfsTer?) c.9208del (p.Arg3070GlyfsTer?) c.5554del (p.Arg1852GlyfsTer?) c.9448del (p.Arg3150GlyfsTer?) c.9439del (p.Arg3147GlyfsTer?) c.9454del (p.Arg3152GlyfsTer?) c.3751del (p.Arg1251GlyfsTer?) | |
X | g.31206654T>A | CA412649600 | DMD | c.4423A>T (p.Arg1475Trp) c.373A>T (p.Arg125Trp) n.375A>T c.2197A>T (p.Arg733Trp) n.1094A>T n.676A>T n.1095A>T n.3069A>T c.1432A>T (p.Arg478Trp) c.9577A>T (p.Arg3193Trp) c.5545A>T (p.Arg1849Trp) c.250A>T (p.Arg84Trp) c.316A>T (p.Arg106Trp) n.507A>T c.1390A>T (p.Arg464Trp) c.2665A>T (p.Arg889Trp) c.9565A>T (p.Arg3189Trp) c.9562A>T (p.Arg3188Trp) c.9574A>T (p.Arg3192Trp) c.9553A>T (p.Arg3185Trp) c.9208A>T (p.Arg3070Trp) c.5554A>T (p.Arg1852Trp) c.9448A>T (p.Arg3150Trp) c.9439A>T (p.Arg3147Trp) c.9454A>T (p.Arg3152Trp) c.3751A>T (p.Arg1251Trp) | |
X | g.31206654T>C | CA412649601 | DMD | c.4423A>G (p.Arg1475Gly) c.373A>G (p.Arg125Gly) n.375A>G c.2197A>G (p.Arg733Gly) n.1094A>G n.676A>G n.1095A>G n.3069A>G c.1432A>G (p.Arg478Gly) c.9577A>G (p.Arg3193Gly) c.5545A>G (p.Arg1849Gly) c.250A>G (p.Arg84Gly) c.316A>G (p.Arg106Gly) n.507A>G c.1390A>G (p.Arg464Gly) c.2665A>G (p.Arg889Gly) c.9565A>G (p.Arg3189Gly) c.9562A>G (p.Arg3188Gly) c.9574A>G (p.Arg3192Gly) c.9553A>G (p.Arg3185Gly) c.9208A>G (p.Arg3070Gly) c.5554A>G (p.Arg1852Gly) c.9448A>G (p.Arg3150Gly) c.9439A>G (p.Arg3147Gly) c.9454A>G (p.Arg3152Gly) c.3751A>G (p.Arg1251Gly) | |
X | g.31206654T>G | CA515857087 | DMD | c.4423A>C (p.Arg1475=) c.373A>C (p.Arg125=) n.375A>C c.2197A>C (p.Arg733=) n.1094A>C n.676A>C n.1095A>C n.3069A>C c.1432A>C (p.Arg478=) c.9577A>C (p.Arg3193=) c.5545A>C (p.Arg1849=) c.250A>C (p.Arg84=) c.316A>C (p.Arg106=) n.507A>C c.1390A>C (p.Arg464=) c.2665A>C (p.Arg889=) c.9565A>C (p.Arg3189=) c.9562A>C (p.Arg3188=) c.9574A>C (p.Arg3192=) c.9553A>C (p.Arg3185=) c.9208A>C (p.Arg3070=) c.5554A>C (p.Arg1852=) c.9448A>C (p.Arg3150=) c.9439A>C (p.Arg3147=) c.9454A>C (p.Arg3152=) c.3751A>C (p.Arg1251=) | ClinVar dbSNP |
X | g.31206654T= | CA2422348464 | DMD | c.4423A= (p.Arg1475=) c.373A= (p.Arg125=) n.375A= c.2197A= (p.Arg733=) n.1094A= n.676A= n.1095A= n.3069A= c.1432A= (p.Arg478=) c.9577A= (p.Arg3193=) c.5545A= (p.Arg1849=) c.250A= (p.Arg84=) c.316A= (p.Arg106=) n.507A= c.1390A= (p.Arg464=) c.2665A= (p.Arg889=) c.9565A= (p.Arg3189=) c.9562A= (p.Arg3188=) c.9574A= (p.Arg3192=) c.9553A= (p.Arg3185=) c.9208A= (p.Arg3070=) c.5554A= (p.Arg1852=) c.9448A= (p.Arg3150=) c.9439A= (p.Arg3147=) c.9454A= (p.Arg3152=) c.3751A= (p.Arg1251=) | |
X | g.31206655C>A | CA515857088 | DMD | c.4422G>T (p.Gly1474=) c.372G>T (p.Gly124=) n.374G>T c.2196G>T (p.Gly732=) n.1093G>T n.675G>T n.1094G>T n.3068G>T c.1431G>T (p.Gly477=) c.9576G>T (p.Gly3192=) c.5544G>T (p.Gly1848=) c.249G>T (p.Gly83=) c.315G>T (p.Gly105=) n.506G>T c.1389G>T (p.Gly463=) c.2664G>T (p.Gly888=) c.9564G>T (p.Gly3188=) c.9561G>T (p.Gly3187=) c.9573G>T (p.Gly3191=) c.9552G>T (p.Gly3184=) c.9207G>T (p.Gly3069=) c.5553G>T (p.Gly1851=) c.9447G>T (p.Gly3149=) c.9438G>T (p.Gly3146=) c.9453G>T (p.Gly3151=) c.3750G>T (p.Gly1250=) | |
X | g.31206655C>G | CA515857089 | DMD | c.4422G>C (p.Gly1474=) c.372G>C (p.Gly124=) n.374G>C c.2196G>C (p.Gly732=) n.1093G>C n.675G>C n.1094G>C n.3068G>C c.1431G>C (p.Gly477=) c.9576G>C (p.Gly3192=) c.5544G>C (p.Gly1848=) c.249G>C (p.Gly83=) c.315G>C (p.Gly105=) n.506G>C c.1389G>C (p.Gly463=) c.2664G>C (p.Gly888=) c.9564G>C (p.Gly3188=) c.9561G>C (p.Gly3187=) c.9573G>C (p.Gly3191=) c.9552G>C (p.Gly3184=) c.9207G>C (p.Gly3069=) c.5553G>C (p.Gly1851=) c.9447G>C (p.Gly3149=) c.9438G>C (p.Gly3146=) c.9453G>C (p.Gly3151=) c.3750G>C (p.Gly1250=) | |
X | g.31206655C>T | CA515857090 | DMD | c.4422G>A (p.Gly1474=) c.372G>A (p.Gly124=) n.374G>A c.2196G>A (p.Gly732=) n.1093G>A n.675G>A n.1094G>A n.3068G>A c.1431G>A (p.Gly477=) c.9576G>A (p.Gly3192=) c.5544G>A (p.Gly1848=) c.249G>A (p.Gly83=) c.315G>A (p.Gly105=) n.506G>A c.1389G>A (p.Gly463=) c.2664G>A (p.Gly888=) c.9564G>A (p.Gly3188=) c.9561G>A (p.Gly3187=) c.9573G>A (p.Gly3191=) c.9552G>A (p.Gly3184=) c.9207G>A (p.Gly3069=) c.5553G>A (p.Gly1851=) c.9447G>A (p.Gly3149=) c.9438G>A (p.Gly3146=) c.9453G>A (p.Gly3151=) c.3750G>A (p.Gly1250=) | |
X | g.31206656C>A | CA412649603 | DMD | c.4421G>T (p.Gly1474Val) c.371G>T (p.Gly124Val) n.373G>T c.2195G>T (p.Gly732Val) n.1092G>T n.674G>T n.1093G>T n.3067G>T c.1430G>T (p.Gly477Val) c.9575G>T (p.Gly3192Val) c.5543G>T (p.Gly1848Val) c.248G>T (p.Gly83Val) c.314G>T (p.Gly105Val) n.505G>T c.1388G>T (p.Gly463Val) c.2663G>T (p.Gly888Val) c.9563G>T (p.Gly3188Val) c.9560G>T (p.Gly3187Val) c.9572G>T (p.Gly3191Val) c.9551G>T (p.Gly3184Val) c.9206G>T (p.Gly3069Val) c.5552G>T (p.Gly1851Val) c.9446G>T (p.Gly3149Val) c.9437G>T (p.Gly3146Val) c.9452G>T (p.Gly3151Val) c.3749G>T (p.Gly1250Val) | |
X | g.31206656C>G | CA412649604 | DMD | c.4421G>C (p.Gly1474Ala) c.371G>C (p.Gly124Ala) n.373G>C c.2195G>C (p.Gly732Ala) n.1092G>C n.674G>C n.1093G>C n.3067G>C c.1430G>C (p.Gly477Ala) c.9575G>C (p.Gly3192Ala) c.5543G>C (p.Gly1848Ala) c.248G>C (p.Gly83Ala) c.314G>C (p.Gly105Ala) n.505G>C c.1388G>C (p.Gly463Ala) c.2663G>C (p.Gly888Ala) c.9563G>C (p.Gly3188Ala) c.9560G>C (p.Gly3187Ala) c.9572G>C (p.Gly3191Ala) c.9551G>C (p.Gly3184Ala) c.9206G>C (p.Gly3069Ala) c.5552G>C (p.Gly1851Ala) c.9446G>C (p.Gly3149Ala) c.9437G>C (p.Gly3146Ala) c.9452G>C (p.Gly3151Ala) c.3749G>C (p.Gly1250Ala) | |
X | g.31206656C>T | CA412649605 | DMD | c.4421G>A (p.Gly1474Glu) c.371G>A (p.Gly124Glu) n.373G>A c.2195G>A (p.Gly732Glu) n.1092G>A n.674G>A n.1093G>A n.3067G>A c.1430G>A (p.Gly477Glu) c.9575G>A (p.Gly3192Glu) c.5543G>A (p.Gly1848Glu) c.248G>A (p.Gly83Glu) c.314G>A (p.Gly105Glu) n.505G>A c.1388G>A (p.Gly463Glu) c.2663G>A (p.Gly888Glu) c.9563G>A (p.Gly3188Glu) c.9560G>A (p.Gly3187Glu) c.9572G>A (p.Gly3191Glu) c.9551G>A (p.Gly3184Glu) c.9206G>A (p.Gly3069Glu) c.5552G>A (p.Gly1851Glu) c.9446G>A (p.Gly3149Glu) c.9437G>A (p.Gly3146Glu) c.9452G>A (p.Gly3151Glu) c.3749G>A (p.Gly1250Glu) | |
X | g.31206657C>A | CA412649607 | DMD | c.4420G>T (p.Gly1474Trp) c.370G>T (p.Gly124Trp) n.372G>T c.2194G>T (p.Gly732Trp) n.1091G>T n.673G>T n.1092G>T n.3066G>T c.1429G>T (p.Gly477Trp) c.9574G>T (p.Gly3192Trp) c.5542G>T (p.Gly1848Trp) c.247G>T (p.Gly83Trp) c.313G>T (p.Gly105Trp) n.504G>T c.1387G>T (p.Gly463Trp) c.2662G>T (p.Gly888Trp) c.9562G>T (p.Gly3188Trp) c.9559G>T (p.Gly3187Trp) c.9571G>T (p.Gly3191Trp) c.9550G>T (p.Gly3184Trp) c.9205G>T (p.Gly3069Trp) c.5551G>T (p.Gly1851Trp) c.9445G>T (p.Gly3149Trp) c.9436G>T (p.Gly3146Trp) c.9451G>T (p.Gly3151Trp) c.3748G>T (p.Gly1250Trp) | COSMIC COSMIC COSMIC COSMIC |
X | g.31206657C= | CA2422348465 | DMD | c.4420G= (p.Gly1474=) c.370G= (p.Gly124=) n.372G= c.2194G= (p.Gly732=) n.1091G= n.673G= n.1092G= n.3066G= c.1429G= (p.Gly477=) c.9574G= (p.Gly3192=) c.5542G= (p.Gly1848=) c.247G= (p.Gly83=) c.313G= (p.Gly105=) n.504G= c.1387G= (p.Gly463=) c.2662G= (p.Gly888=) c.9562G= (p.Gly3188=) c.9559G= (p.Gly3187=) c.9571G= (p.Gly3191=) c.9550G= (p.Gly3184=) c.9205G= (p.Gly3069=) c.5551G= (p.Gly1851=) c.9445G= (p.Gly3149=) c.9436G= (p.Gly3146=) c.9451G= (p.Gly3151=) c.3748G= (p.Gly1250=) | |
X | g.31206657C>G | CA10377776 | DMD | c.4420G>C (p.Gly1474Arg) c.370G>C (p.Gly124Arg) n.372G>C c.2194G>C (p.Gly732Arg) n.1091G>C n.673G>C n.1092G>C n.3066G>C c.1429G>C (p.Gly477Arg) c.9574G>C (p.Gly3192Arg) c.5542G>C (p.Gly1848Arg) c.247G>C (p.Gly83Arg) c.313G>C (p.Gly105Arg) n.504G>C c.1387G>C (p.Gly463Arg) c.2662G>C (p.Gly888Arg) c.9562G>C (p.Gly3188Arg) c.9559G>C (p.Gly3187Arg) c.9571G>C (p.Gly3191Arg) c.9550G>C (p.Gly3184Arg) c.9205G>C (p.Gly3069Arg) c.5551G>C (p.Gly1851Arg) c.9445G>C (p.Gly3149Arg) c.9436G>C (p.Gly3146Arg) c.9451G>C (p.Gly3151Arg) c.3748G>C (p.Gly1250Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.31206657C>T | CA412649610 | DMD | c.4420G>A (p.Gly1474Arg) c.370G>A (p.Gly124Arg) n.372G>A c.2194G>A (p.Gly732Arg) n.1091G>A n.673G>A n.1092G>A n.3066G>A c.1429G>A (p.Gly477Arg) c.9574G>A (p.Gly3192Arg) c.5542G>A (p.Gly1848Arg) c.247G>A (p.Gly83Arg) c.313G>A (p.Gly105Arg) n.504G>A c.1387G>A (p.Gly463Arg) c.2662G>A (p.Gly888Arg) c.9562G>A (p.Gly3188Arg) c.9559G>A (p.Gly3187Arg) c.9571G>A (p.Gly3191Arg) c.9550G>A (p.Gly3184Arg) c.9205G>A (p.Gly3069Arg) c.5551G>A (p.Gly1851Arg) c.9445G>A (p.Gly3149Arg) c.9436G>A (p.Gly3146Arg) c.9451G>A (p.Gly3151Arg) c.3748G>A (p.Gly1250Arg) | |
X | g.31206658T>A | CA515857091 | DMD | c.4419A>T (p.Thr1473=) c.369A>T (p.Thr123=) n.371A>T c.2193A>T (p.Thr731=) n.1090A>T n.672A>T n.1091A>T n.3065A>T c.1428A>T (p.Thr476=) c.9573A>T (p.Thr3191=) c.5541A>T (p.Thr1847=) c.246A>T (p.Thr82=) c.312A>T (p.Thr104=) n.503A>T c.1386A>T (p.Thr462=) c.2661A>T (p.Thr887=) c.9561A>T (p.Thr3187=) c.9558A>T (p.Thr3186=) c.9570A>T (p.Thr3190=) c.9549A>T (p.Thr3183=) c.9204A>T (p.Thr3068=) c.5550A>T (p.Thr1850=) c.9444A>T (p.Thr3148=) c.9435A>T (p.Thr3145=) c.9450A>T (p.Thr3150=) c.3747A>T (p.Thr1249=) | |
X | g.31206658T>C | CA515857093 | DMD | c.4419A>G (p.Thr1473=) c.369A>G (p.Thr123=) n.371A>G c.2193A>G (p.Thr731=) n.1090A>G n.672A>G n.1091A>G n.3065A>G c.1428A>G (p.Thr476=) c.9573A>G (p.Thr3191=) c.5541A>G (p.Thr1847=) c.246A>G (p.Thr82=) c.312A>G (p.Thr104=) n.503A>G c.1386A>G (p.Thr462=) c.2661A>G (p.Thr887=) c.9561A>G (p.Thr3187=) c.9558A>G (p.Thr3186=) c.9570A>G (p.Thr3190=) c.9549A>G (p.Thr3183=) c.9204A>G (p.Thr3068=) c.5550A>G (p.Thr1850=) c.9444A>G (p.Thr3148=) c.9435A>G (p.Thr3145=) c.9450A>G (p.Thr3150=) c.3747A>G (p.Thr1249=) | |
X | g.31206658T>G | CA515857092 | DMD | c.4419A>C (p.Thr1473=) c.369A>C (p.Thr123=) n.371A>C c.2193A>C (p.Thr731=) n.1090A>C n.672A>C n.1091A>C n.3065A>C c.1428A>C (p.Thr476=) c.9573A>C (p.Thr3191=) c.5541A>C (p.Thr1847=) c.246A>C (p.Thr82=) c.312A>C (p.Thr104=) n.503A>C c.1386A>C (p.Thr462=) c.2661A>C (p.Thr887=) c.9561A>C (p.Thr3187=) c.9558A>C (p.Thr3186=) c.9570A>C (p.Thr3190=) c.9549A>C (p.Thr3183=) c.9204A>C (p.Thr3068=) c.5550A>C (p.Thr1850=) c.9444A>C (p.Thr3148=) c.9435A>C (p.Thr3145=) c.9450A>C (p.Thr3150=) c.3747A>C (p.Thr1249=) | |
X | g.31206659G>A | CA412649612 | DMD | c.4418C>T (p.Thr1473Ile) c.368C>T (p.Thr123Ile) n.370C>T c.2192C>T (p.Thr731Ile) n.1089C>T n.671C>T n.1090C>T n.3064C>T c.1427C>T (p.Thr476Ile) c.9572C>T (p.Thr3191Ile) c.5540C>T (p.Thr1847Ile) c.245C>T (p.Thr82Ile) c.311C>T (p.Thr104Ile) n.502C>T c.1385C>T (p.Thr462Ile) c.2660C>T (p.Thr887Ile) c.9560C>T (p.Thr3187Ile) c.9557C>T (p.Thr3186Ile) c.9569C>T (p.Thr3190Ile) c.9548C>T (p.Thr3183Ile) c.9203C>T (p.Thr3068Ile) c.5549C>T (p.Thr1850Ile) c.9443C>T (p.Thr3148Ile) c.9434C>T (p.Thr3145Ile) c.9449C>T (p.Thr3150Ile) c.3746C>T (p.Thr1249Ile) | ClinVar |
X | g.31206659G>C | CA412649614 | DMD | c.4418C>G (p.Thr1473Arg) c.368C>G (p.Thr123Arg) n.370C>G c.2192C>G (p.Thr731Arg) n.1089C>G n.671C>G n.1090C>G n.3064C>G c.1427C>G (p.Thr476Arg) c.9572C>G (p.Thr3191Arg) c.5540C>G (p.Thr1847Arg) c.245C>G (p.Thr82Arg) c.311C>G (p.Thr104Arg) n.502C>G c.1385C>G (p.Thr462Arg) c.2660C>G (p.Thr887Arg) c.9560C>G (p.Thr3187Arg) c.9557C>G (p.Thr3186Arg) c.9569C>G (p.Thr3190Arg) c.9548C>G (p.Thr3183Arg) c.9203C>G (p.Thr3068Arg) c.5549C>G (p.Thr1850Arg) c.9443C>G (p.Thr3148Arg) c.9434C>G (p.Thr3145Arg) c.9449C>G (p.Thr3150Arg) c.3746C>G (p.Thr1249Arg) | |
X | g.31206659G>T | CA412649615 | DMD | c.4418C>A (p.Thr1473Lys) c.368C>A (p.Thr123Lys) n.370C>A c.2192C>A (p.Thr731Lys) n.1089C>A n.671C>A n.1090C>A n.3064C>A c.1427C>A (p.Thr476Lys) c.9572C>A (p.Thr3191Lys) c.5540C>A (p.Thr1847Lys) c.245C>A (p.Thr82Lys) c.311C>A (p.Thr104Lys) n.502C>A c.1385C>A (p.Thr462Lys) c.2660C>A (p.Thr887Lys) c.9560C>A (p.Thr3187Lys) c.9557C>A (p.Thr3186Lys) c.9569C>A (p.Thr3190Lys) c.9548C>A (p.Thr3183Lys) c.9203C>A (p.Thr3068Lys) c.5549C>A (p.Thr1850Lys) c.9443C>A (p.Thr3148Lys) c.9434C>A (p.Thr3145Lys) c.9449C>A (p.Thr3150Lys) c.3746C>A (p.Thr1249Lys) | |
X | g.31206660T>A | CA412649621 | DMD | c.4417A>T (p.Thr1473Ser) c.367A>T (p.Thr123Ser) n.369A>T c.2191A>T (p.Thr731Ser) n.1088A>T n.670A>T n.1089A>T n.3063A>T c.1426A>T (p.Thr476Ser) c.9571A>T (p.Thr3191Ser) c.5539A>T (p.Thr1847Ser) c.244A>T (p.Thr82Ser) c.310A>T (p.Thr104Ser) n.501A>T c.1384A>T (p.Thr462Ser) c.2659A>T (p.Thr887Ser) c.9559A>T (p.Thr3187Ser) c.9556A>T (p.Thr3186Ser) c.9568A>T (p.Thr3190Ser) c.9547A>T (p.Thr3183Ser) c.9202A>T (p.Thr3068Ser) c.5548A>T (p.Thr1850Ser) c.9442A>T (p.Thr3148Ser) c.9433A>T (p.Thr3145Ser) c.9448A>T (p.Thr3150Ser) c.3745A>T (p.Thr1249Ser) | |
X | g.31206660T>C | CA412649617 | DMD | c.4417A>G (p.Thr1473Ala) c.367A>G (p.Thr123Ala) n.369A>G c.2191A>G (p.Thr731Ala) n.1088A>G n.670A>G n.1089A>G n.3063A>G c.1426A>G (p.Thr476Ala) c.9571A>G (p.Thr3191Ala) c.5539A>G (p.Thr1847Ala) c.244A>G (p.Thr82Ala) c.310A>G (p.Thr104Ala) n.501A>G c.1384A>G (p.Thr462Ala) c.2659A>G (p.Thr887Ala) c.9559A>G (p.Thr3187Ala) c.9556A>G (p.Thr3186Ala) c.9568A>G (p.Thr3190Ala) c.9547A>G (p.Thr3183Ala) c.9202A>G (p.Thr3068Ala) c.5548A>G (p.Thr1850Ala) c.9442A>G (p.Thr3148Ala) c.9433A>G (p.Thr3145Ala) c.9448A>G (p.Thr3150Ala) c.3745A>G (p.Thr1249Ala) | |
X | g.31206660T>G | CA412649619 | DMD | c.4417A>C (p.Thr1473Pro) c.367A>C (p.Thr123Pro) n.369A>C c.2191A>C (p.Thr731Pro) n.1088A>C n.670A>C n.1089A>C n.3063A>C c.1426A>C (p.Thr476Pro) c.9571A>C (p.Thr3191Pro) c.5539A>C (p.Thr1847Pro) c.244A>C (p.Thr82Pro) c.310A>C (p.Thr104Pro) n.501A>C c.1384A>C (p.Thr462Pro) c.2659A>C (p.Thr887Pro) c.9559A>C (p.Thr3187Pro) c.9556A>C (p.Thr3186Pro) c.9568A>C (p.Thr3190Pro) c.9547A>C (p.Thr3183Pro) c.9202A>C (p.Thr3068Pro) c.5548A>C (p.Thr1850Pro) c.9442A>C (p.Thr3148Pro) c.9433A>C (p.Thr3145Pro) c.9448A>C (p.Thr3150Pro) c.3745A>C (p.Thr1249Pro) | |
X | g.31206661T>A | CA515857094 | DMD | c.4416A>T (p.Arg1472=) c.366A>T (p.Arg122=) n.368A>T c.2190A>T (p.Arg730=) n.1087A>T n.669A>T n.1088A>T n.3062A>T c.1425A>T (p.Arg475=) c.9570A>T (p.Arg3190=) c.5538A>T (p.Arg1846=) c.243A>T (p.Arg81=) c.309A>T (p.Arg103=) n.500A>T c.1383A>T (p.Arg461=) c.2658A>T (p.Arg886=) c.9558A>T (p.Arg3186=) c.9555A>T (p.Arg3185=) c.9567A>T (p.Arg3189=) c.9546A>T (p.Arg3182=) c.9201A>T (p.Arg3067=) c.5547A>T (p.Arg1849=) c.9441A>T (p.Arg3147=) c.9432A>T (p.Arg3144=) c.9447A>T (p.Arg3149=) c.3744A>T (p.Arg1248=) | |
X | g.31206661T>C | CA515857095 | DMD | c.4416A>G (p.Arg1472=) c.366A>G (p.Arg122=) n.368A>G c.2190A>G (p.Arg730=) n.1087A>G n.669A>G n.1088A>G n.3062A>G c.1425A>G (p.Arg475=) c.9570A>G (p.Arg3190=) c.5538A>G (p.Arg1846=) c.243A>G (p.Arg81=) c.309A>G (p.Arg103=) n.500A>G c.1383A>G (p.Arg461=) c.2658A>G (p.Arg886=) c.9558A>G (p.Arg3186=) c.9555A>G (p.Arg3185=) c.9567A>G (p.Arg3189=) c.9546A>G (p.Arg3182=) c.9201A>G (p.Arg3067=) c.5547A>G (p.Arg1849=) c.9441A>G (p.Arg3147=) c.9432A>G (p.Arg3144=) c.9447A>G (p.Arg3149=) c.3744A>G (p.Arg1248=) | |
X | g.31206661T>G | CA515857096 | DMD | c.4416A>C (p.Arg1472=) c.366A>C (p.Arg122=) n.368A>C c.2190A>C (p.Arg730=) n.1087A>C n.669A>C n.1088A>C n.3062A>C c.1425A>C (p.Arg475=) c.9570A>C (p.Arg3190=) c.5538A>C (p.Arg1846=) c.243A>C (p.Arg81=) c.309A>C (p.Arg103=) n.500A>C c.1383A>C (p.Arg461=) c.2658A>C (p.Arg886=) c.9558A>C (p.Arg3186=) c.9555A>C (p.Arg3185=) c.9567A>C (p.Arg3189=) c.9546A>C (p.Arg3182=) c.9201A>C (p.Arg3067=) c.5547A>C (p.Arg1849=) c.9441A>C (p.Arg3147=) c.9432A>C (p.Arg3144=) c.9447A>C (p.Arg3149=) c.3744A>C (p.Arg1248=) | |
X | g.31206662C>A | CA412649622 | DMD | c.4415G>T (p.Arg1472Leu) c.365G>T (p.Arg122Leu) n.367G>T c.2189G>T (p.Arg730Leu) n.1086G>T n.668G>T n.1087G>T n.3061G>T c.1424G>T (p.Arg475Leu) c.9569G>T (p.Arg3190Leu) c.5537G>T (p.Arg1846Leu) c.242G>T (p.Arg81Leu) c.308G>T (p.Arg103Leu) n.499G>T c.1382G>T (p.Arg461Leu) c.2657G>T (p.Arg886Leu) c.9557G>T (p.Arg3186Leu) c.9554G>T (p.Arg3185Leu) c.9566G>T (p.Arg3189Leu) c.9545G>T (p.Arg3182Leu) c.9200G>T (p.Arg3067Leu) c.5546G>T (p.Arg1849Leu) c.9440G>T (p.Arg3147Leu) c.9431G>T (p.Arg3144Leu) c.9446G>T (p.Arg3149Leu) c.3743G>T (p.Arg1248Leu) | |
X | g.31206662C= | CA2422348466 | DMD | c.4415G= (p.Arg1472=) c.365G= (p.Arg122=) n.367G= c.2189G= (p.Arg730=) n.1086G= n.668G= n.1087G= n.3061G= c.1424G= (p.Arg475=) c.9569G= (p.Arg3190=) c.5537G= (p.Arg1846=) c.242G= (p.Arg81=) c.308G= (p.Arg103=) n.499G= c.1382G= (p.Arg461=) c.2657G= (p.Arg886=) c.9557G= (p.Arg3186=) c.9554G= (p.Arg3185=) c.9566G= (p.Arg3189=) c.9545G= (p.Arg3182=) c.9200G= (p.Arg3067=) c.5546G= (p.Arg1849=) c.9440G= (p.Arg3147=) c.9431G= (p.Arg3144=) c.9446G= (p.Arg3149=) c.3743G= (p.Arg1248=) | |
X | g.31206662C>G | CA412649624 | DMD | c.4415G>C (p.Arg1472Pro) c.365G>C (p.Arg122Pro) n.367G>C c.2189G>C (p.Arg730Pro) n.1086G>C n.668G>C n.1087G>C n.3061G>C c.1424G>C (p.Arg475Pro) c.9569G>C (p.Arg3190Pro) c.5537G>C (p.Arg1846Pro) c.242G>C (p.Arg81Pro) c.308G>C (p.Arg103Pro) n.499G>C c.1382G>C (p.Arg461Pro) c.2657G>C (p.Arg886Pro) c.9557G>C (p.Arg3186Pro) c.9554G>C (p.Arg3185Pro) c.9566G>C (p.Arg3189Pro) c.9545G>C (p.Arg3182Pro) c.9200G>C (p.Arg3067Pro) c.5546G>C (p.Arg1849Pro) c.9440G>C (p.Arg3147Pro) c.9431G>C (p.Arg3144Pro) c.9446G>C (p.Arg3149Pro) c.3743G>C (p.Arg1248Pro) | |
X | g.31206662C>T | CA10604334 | DMD | c.4415G>A (p.Arg1472Gln) c.365G>A (p.Arg122Gln) n.367G>A c.2189G>A (p.Arg730Gln) n.1086G>A n.668G>A n.1087G>A n.3061G>A c.1424G>A (p.Arg475Gln) c.9569G>A (p.Arg3190Gln) c.5537G>A (p.Arg1846Gln) c.242G>A (p.Arg81Gln) c.308G>A (p.Arg103Gln) n.499G>A c.1382G>A (p.Arg461Gln) c.2657G>A (p.Arg886Gln) c.9557G>A (p.Arg3186Gln) c.9554G>A (p.Arg3185Gln) c.9566G>A (p.Arg3189Gln) c.9545G>A (p.Arg3182Gln) c.9200G>A (p.Arg3067Gln) c.5546G>A (p.Arg1849Gln) c.9440G>A (p.Arg3147Gln) c.9431G>A (p.Arg3144Gln) c.9446G>A (p.Arg3149Gln) c.3743G>A (p.Arg1248Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31206663G>A | CA273076 | DMD | c.4414C>T (p.Arg1472Ter) c.364C>T (p.Arg122Ter) n.366C>T c.2188C>T (p.Arg730Ter) n.1085C>T n.667C>T n.1086C>T n.3060C>T c.1423C>T (p.Arg475Ter) c.9568C>T (p.Arg3190Ter) c.5536C>T (p.Arg1846Ter) c.241C>T (p.Arg81Ter) c.307C>T (p.Arg103Ter) n.498C>T c.1381C>T (p.Arg461Ter) c.2656C>T (p.Arg886Ter) c.9556C>T (p.Arg3186Ter) c.9553C>T (p.Arg3185Ter) c.9565C>T (p.Arg3189Ter) c.9544C>T (p.Arg3182Ter) c.9199C>T (p.Arg3067Ter) c.5545C>T (p.Arg1849Ter) c.9439C>T (p.Arg3147Ter) c.9430C>T (p.Arg3144Ter) c.9445C>T (p.Arg3149Ter) c.3742C>T (p.Arg1248Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
X | g.31206663G>C | CA412649627 | DMD | c.4414C>G (p.Arg1472Gly) c.364C>G (p.Arg122Gly) n.366C>G c.2188C>G (p.Arg730Gly) n.1085C>G n.667C>G n.1086C>G n.3060C>G c.1423C>G (p.Arg475Gly) c.9568C>G (p.Arg3190Gly) c.5536C>G (p.Arg1846Gly) c.241C>G (p.Arg81Gly) c.307C>G (p.Arg103Gly) n.498C>G c.1381C>G (p.Arg461Gly) c.2656C>G (p.Arg886Gly) c.9556C>G (p.Arg3186Gly) c.9553C>G (p.Arg3185Gly) c.9565C>G (p.Arg3189Gly) c.9544C>G (p.Arg3182Gly) c.9199C>G (p.Arg3067Gly) c.5545C>G (p.Arg1849Gly) c.9439C>G (p.Arg3147Gly) c.9430C>G (p.Arg3144Gly) c.9445C>G (p.Arg3149Gly) c.3742C>G (p.Arg1248Gly) | |
X | g.31206663G= | CA2422348467 | DMD | c.4414C= (p.Arg1472=) c.364C= (p.Arg122=) n.366C= c.2188C= (p.Arg730=) n.1085C= n.667C= n.1086C= n.3060C= c.1423C= (p.Arg475=) c.9568C= (p.Arg3190=) c.5536C= (p.Arg1846=) c.241C= (p.Arg81=) c.307C= (p.Arg103=) n.498C= c.1381C= (p.Arg461=) c.2656C= (p.Arg886=) c.9556C= (p.Arg3186=) c.9553C= (p.Arg3185=) c.9565C= (p.Arg3189=) c.9544C= (p.Arg3182=) c.9199C= (p.Arg3067=) c.5545C= (p.Arg1849=) c.9439C= (p.Arg3147=) c.9430C= (p.Arg3144=) c.9445C= (p.Arg3149=) c.3742C= (p.Arg1248=) | |
X | g.31206663G>T | CA515857097 | DMD | c.4414C>A (p.Arg1472=) c.364C>A (p.Arg122=) n.366C>A c.2188C>A (p.Arg730=) n.1085C>A n.667C>A n.1086C>A n.3060C>A c.1423C>A (p.Arg475=) c.9568C>A (p.Arg3190=) c.5536C>A (p.Arg1846=) c.241C>A (p.Arg81=) c.307C>A (p.Arg103=) n.498C>A c.1381C>A (p.Arg461=) c.2656C>A (p.Arg886=) c.9556C>A (p.Arg3186=) c.9553C>A (p.Arg3185=) c.9565C>A (p.Arg3189=) c.9544C>A (p.Arg3182=) c.9199C>A (p.Arg3067=) c.5545C>A (p.Arg1849=) c.9439C>A (p.Arg3147=) c.9430C>A (p.Arg3144=) c.9445C>A (p.Arg3149=) c.3742C>A (p.Arg1248=) | |
X | g.31206664T>A | CA515857098 | DMD | c.4413A>T (p.Gly1471=) c.363A>T (p.Gly121=) n.365A>T c.2187A>T (p.Gly729=) n.1084A>T n.666A>T n.1085A>T n.3059A>T c.1422A>T (p.Gly474=) c.9567A>T (p.Gly3189=) c.5535A>T (p.Gly1845=) c.240A>T (p.Gly80=) c.306A>T (p.Gly102=) n.497A>T c.1380A>T (p.Gly460=) c.2655A>T (p.Gly885=) c.9555A>T (p.Gly3185=) c.9552A>T (p.Gly3184=) c.9564A>T (p.Gly3188=) c.9543A>T (p.Gly3181=) c.9198A>T (p.Gly3066=) c.5544A>T (p.Gly1848=) c.9438A>T (p.Gly3146=) c.9429A>T (p.Gly3143=) c.9444A>T (p.Gly3148=) c.3741A>T (p.Gly1247=) | |
X | g.31206664T>C | CA515857099 | DMD | c.4413A>G (p.Gly1471=) c.363A>G (p.Gly121=) n.365A>G c.2187A>G (p.Gly729=) n.1084A>G n.666A>G n.1085A>G n.3059A>G c.1422A>G (p.Gly474=) c.9567A>G (p.Gly3189=) c.5535A>G (p.Gly1845=) c.240A>G (p.Gly80=) c.306A>G (p.Gly102=) n.497A>G c.1380A>G (p.Gly460=) c.2655A>G (p.Gly885=) c.9555A>G (p.Gly3185=) c.9552A>G (p.Gly3184=) c.9564A>G (p.Gly3188=) c.9543A>G (p.Gly3181=) c.9198A>G (p.Gly3066=) c.5544A>G (p.Gly1848=) c.9438A>G (p.Gly3146=) c.9429A>G (p.Gly3143=) c.9444A>G (p.Gly3148=) c.3741A>G (p.Gly1247=) | |
X | g.31206664T>G | CA515857100 | DMD | c.4413A>C (p.Gly1471=) c.363A>C (p.Gly121=) n.365A>C c.2187A>C (p.Gly729=) n.1084A>C n.666A>C n.1085A>C n.3059A>C c.1422A>C (p.Gly474=) c.9567A>C (p.Gly3189=) c.5535A>C (p.Gly1845=) c.240A>C (p.Gly80=) c.306A>C (p.Gly102=) n.497A>C c.1380A>C (p.Gly460=) c.2655A>C (p.Gly885=) c.9555A>C (p.Gly3185=) c.9552A>C (p.Gly3184=) c.9564A>C (p.Gly3188=) c.9543A>C (p.Gly3181=) c.9198A>C (p.Gly3066=) c.5544A>C (p.Gly1848=) c.9438A>C (p.Gly3146=) c.9429A>C (p.Gly3143=) c.9444A>C (p.Gly3148=) c.3741A>C (p.Gly1247=) | gnomAD v4 |
X | g.31206665C>A | CA412649629 | DMD | c.4412G>T (p.Gly1471Val) c.362G>T (p.Gly121Val) n.364G>T c.2186G>T (p.Gly729Val) n.1083G>T n.665G>T n.1084G>T n.3058G>T c.1421G>T (p.Gly474Val) c.9566G>T (p.Gly3189Val) c.5534G>T (p.Gly1845Val) c.239G>T (p.Gly80Val) c.305G>T (p.Gly102Val) n.496G>T c.1379G>T (p.Gly460Val) c.2654G>T (p.Gly885Val) c.9554G>T (p.Gly3185Val) c.9551G>T (p.Gly3184Val) c.9563G>T (p.Gly3188Val) c.9542G>T (p.Gly3181Val) c.9197G>T (p.Gly3066Val) c.5543G>T (p.Gly1848Val) c.9437G>T (p.Gly3146Val) c.9428G>T (p.Gly3143Val) c.9443G>T (p.Gly3148Val) c.3740G>T (p.Gly1247Val) | gnomAD v4 |
X | g.31206665C>G | CA412649630 | DMD | c.4412G>C (p.Gly1471Ala) c.362G>C (p.Gly121Ala) n.364G>C c.2186G>C (p.Gly729Ala) n.1083G>C n.665G>C n.1084G>C n.3058G>C c.1421G>C (p.Gly474Ala) c.9566G>C (p.Gly3189Ala) c.5534G>C (p.Gly1845Ala) c.239G>C (p.Gly80Ala) c.305G>C (p.Gly102Ala) n.496G>C c.1379G>C (p.Gly460Ala) c.2654G>C (p.Gly885Ala) c.9554G>C (p.Gly3185Ala) c.9551G>C (p.Gly3184Ala) c.9563G>C (p.Gly3188Ala) c.9542G>C (p.Gly3181Ala) c.9197G>C (p.Gly3066Ala) c.5543G>C (p.Gly1848Ala) c.9437G>C (p.Gly3146Ala) c.9428G>C (p.Gly3143Ala) c.9443G>C (p.Gly3148Ala) c.3740G>C (p.Gly1247Ala) | |
X | g.31206665C>T | CA412649632 | DMD | c.4412G>A (p.Gly1471Glu) c.362G>A (p.Gly121Glu) n.364G>A c.2186G>A (p.Gly729Glu) n.1083G>A n.665G>A n.1084G>A n.3058G>A c.1421G>A (p.Gly474Glu) c.9566G>A (p.Gly3189Glu) c.5534G>A (p.Gly1845Glu) c.239G>A (p.Gly80Glu) c.305G>A (p.Gly102Glu) n.496G>A c.1379G>A (p.Gly460Glu) c.2654G>A (p.Gly885Glu) c.9554G>A (p.Gly3185Glu) c.9551G>A (p.Gly3184Glu) c.9563G>A (p.Gly3188Glu) c.9542G>A (p.Gly3181Glu) c.9197G>A (p.Gly3066Glu) c.5543G>A (p.Gly1848Glu) c.9437G>A (p.Gly3146Glu) c.9428G>A (p.Gly3143Glu) c.9443G>A (p.Gly3148Glu) c.3740G>A (p.Gly1247Glu) | |
X | g.31206666C>A | CA412649633 | DMD | c.4411G>T (p.Gly1471Ter) c.361G>T (p.Gly121Ter) n.363G>T c.2185G>T (p.Gly729Ter) n.1082G>T n.664G>T n.1083G>T n.3057G>T c.1420G>T (p.Gly474Ter) c.9565G>T (p.Gly3189Ter) c.5533G>T (p.Gly1845Ter) c.238G>T (p.Gly80Ter) c.304G>T (p.Gly102Ter) n.495G>T c.1378G>T (p.Gly460Ter) c.2653G>T (p.Gly885Ter) c.9553G>T (p.Gly3185Ter) c.9550G>T (p.Gly3184Ter) c.9562G>T (p.Gly3188Ter) c.9541G>T (p.Gly3181Ter) c.9196G>T (p.Gly3066Ter) c.5542G>T (p.Gly1848Ter) c.9436G>T (p.Gly3146Ter) c.9427G>T (p.Gly3143Ter) c.9442G>T (p.Gly3148Ter) c.3739G>T (p.Gly1247Ter) | |
X | g.31206666C>G | CA412649635 | DMD | c.4411G>C (p.Gly1471Arg) c.361G>C (p.Gly121Arg) n.363G>C c.2185G>C (p.Gly729Arg) n.1082G>C n.664G>C n.1083G>C n.3057G>C c.1420G>C (p.Gly474Arg) c.9565G>C (p.Gly3189Arg) c.5533G>C (p.Gly1845Arg) c.238G>C (p.Gly80Arg) c.304G>C (p.Gly102Arg) n.495G>C c.1378G>C (p.Gly460Arg) c.2653G>C (p.Gly885Arg) c.9553G>C (p.Gly3185Arg) c.9550G>C (p.Gly3184Arg) c.9562G>C (p.Gly3188Arg) c.9541G>C (p.Gly3181Arg) c.9196G>C (p.Gly3066Arg) c.5542G>C (p.Gly1848Arg) c.9436G>C (p.Gly3146Arg) c.9427G>C (p.Gly3143Arg) c.9442G>C (p.Gly3148Arg) c.3739G>C (p.Gly1247Arg) | |
X | g.31206666C>T | CA412649637 | DMD | c.4411G>A (p.Gly1471Arg) c.361G>A (p.Gly121Arg) n.363G>A c.2185G>A (p.Gly729Arg) n.1082G>A n.664G>A n.1083G>A n.3057G>A c.1420G>A (p.Gly474Arg) c.9565G>A (p.Gly3189Arg) c.5533G>A (p.Gly1845Arg) c.238G>A (p.Gly80Arg) c.304G>A (p.Gly102Arg) n.495G>A c.1378G>A (p.Gly460Arg) c.2653G>A (p.Gly885Arg) c.9553G>A (p.Gly3185Arg) c.9550G>A (p.Gly3184Arg) c.9562G>A (p.Gly3188Arg) c.9541G>A (p.Gly3181Arg) c.9196G>A (p.Gly3066Arg) c.5542G>A (p.Gly1848Arg) c.9436G>A (p.Gly3146Arg) c.9427G>A (p.Gly3143Arg) c.9442G>A (p.Gly3148Arg) c.3739G>A (p.Gly1247Arg) | ClinVar |
X | g.31206667C>A | CA515857104 | DMD | c.4410G>T (p.Thr1470=) c.360G>T (p.Thr120=) n.362G>T c.2184G>T (p.Thr728=) n.1081G>T n.663G>T n.1082G>T n.3056G>T c.1419G>T (p.Thr473=) c.9564G>T (p.Thr3188=) c.5532G>T (p.Thr1844=) c.237G>T (p.Thr79=) c.303G>T (p.Thr101=) n.494G>T c.1377G>T (p.Thr459=) c.2652G>T (p.Thr884=) c.9552G>T (p.Thr3184=) c.9549G>T (p.Thr3183=) c.9561G>T (p.Thr3187=) c.9540G>T (p.Thr3180=) c.9195G>T (p.Thr3065=) c.5541G>T (p.Thr1847=) c.9435G>T (p.Thr3145=) c.9426G>T (p.Thr3142=) c.9441G>T (p.Thr3147=) c.3738G>T (p.Thr1246=) | |
X | g.31206667C>G | CA515857102 | DMD | c.4410G>C (p.Thr1470=) c.360G>C (p.Thr120=) n.362G>C c.2184G>C (p.Thr728=) n.1081G>C n.663G>C n.1082G>C n.3056G>C c.1419G>C (p.Thr473=) c.9564G>C (p.Thr3188=) c.5532G>C (p.Thr1844=) c.237G>C (p.Thr79=) c.303G>C (p.Thr101=) n.494G>C c.1377G>C (p.Thr459=) c.2652G>C (p.Thr884=) c.9552G>C (p.Thr3184=) c.9549G>C (p.Thr3183=) c.9561G>C (p.Thr3187=) c.9540G>C (p.Thr3180=) c.9195G>C (p.Thr3065=) c.5541G>C (p.Thr1847=) c.9435G>C (p.Thr3145=) c.9426G>C (p.Thr3142=) c.9441G>C (p.Thr3147=) c.3738G>C (p.Thr1246=) | |
X | g.31206667C>T | CA515857103 | DMD | c.4410G>A (p.Thr1470=) c.360G>A (p.Thr120=) n.362G>A c.2184G>A (p.Thr728=) n.1081G>A n.663G>A n.1082G>A n.3056G>A c.1419G>A (p.Thr473=) c.9564G>A (p.Thr3188=) c.5532G>A (p.Thr1844=) c.237G>A (p.Thr79=) c.303G>A (p.Thr101=) n.494G>A c.1377G>A (p.Thr459=) c.2652G>A (p.Thr884=) c.9552G>A (p.Thr3184=) c.9549G>A (p.Thr3183=) c.9561G>A (p.Thr3187=) c.9540G>A (p.Thr3180=) c.9195G>A (p.Thr3065=) c.5541G>A (p.Thr1847=) c.9435G>A (p.Thr3145=) c.9426G>A (p.Thr3142=) c.9441G>A (p.Thr3147=) c.3738G>A (p.Thr1246=) | |
X | g.31206667_31206668delinsAA | CA2695232315 | DMD | c.4410-1_4410delinsTT c.360-1_360delinsTT n.362-1_362delinsTT c.2184-1_2184delinsTT n.1081-1_1081delinsTT n.663-1_663delinsTT n.1082-1_1082delinsTT n.3056-1_3056delinsTT c.1419-1_1419delinsTT c.9564-1_9564delinsTT c.5532-1_5532delinsTT c.237-1_237delinsTT c.303-1_303delinsTT n.494-1_494delinsTT c.1377-1_1377delinsTT c.2652-1_2652delinsTT c.9552-1_9552delinsTT c.9549-1_9549delinsTT c.9561-1_9561delinsTT c.9540-1_9540delinsTT c.9195-1_9195delinsTT c.5541-1_5541delinsTT c.9435-1_9435delinsTT c.9426-1_9426delinsTT c.9441-1_9441delinsTT c.3738-1_3738delinsTT | |
X | g.31206668C>A | CA412649639 | DMD | c.4410-1G>T (n.4410-1G>T) c.360-1G>T (n.360-1G>T) n.362-1G>T c.2184-1G>T (n.2184-1G>T) n.1081-1G>T n.663-1G>T n.1082-1G>T n.3056-1G>T c.1419-1G>T (n.1419-1G>T) c.9564-1G>T (n.9564-1G>T) c.5532-1G>T (n.5532-1G>T) c.237-1G>T (n.237-1G>T) c.303-1G>T (n.303-1G>T) n.494-1G>T c.1377-1G>T (n.1377-1G>T) c.2652-1G>T (n.2652-1G>T) c.9552-1G>T (n.9552-1G>T) c.9549-1G>T (n.9549-1G>T) c.9561-1G>T (n.9561-1G>T) c.9540-1G>T (n.9540-1G>T) c.9195-1G>T (n.9195-1G>T) c.5541-1G>T (n.5541-1G>T) c.9435-1G>T (n.9435-1G>T) c.9426-1G>T (n.9426-1G>T) c.9441-1G>T (n.9441-1G>T) c.3738-1G>T (n.3738-1G>T) | |
X | g.31206668C= | CA2422348468 | DMD | c.4410-1G= (n.4410-1G=) c.360-1G= (n.360-1G=) n.362-1G= c.2184-1G= (n.2184-1G=) n.1081-1G= n.663-1G= n.1082-1G= n.3056-1G= c.1419-1G= (n.1419-1G=) c.9564-1G= (n.9564-1G=) c.5532-1G= (n.5532-1G=) c.237-1G= (n.237-1G=) c.303-1G= (n.303-1G=) n.494-1G= c.1377-1G= (n.1377-1G=) c.2652-1G= (n.2652-1G=) c.9552-1G= (n.9552-1G=) c.9549-1G= (n.9549-1G=) c.9561-1G= (n.9561-1G=) c.9540-1G= (n.9540-1G=) c.9195-1G= (n.9195-1G=) c.5541-1G= (n.5541-1G=) c.9435-1G= (n.9435-1G=) c.9426-1G= (n.9426-1G=) c.9441-1G= (n.9441-1G=) c.3738-1G= (n.3738-1G=) | |
X | g.31206668C>G | CA412649641 | DMD | c.4410-1G>C (n.4410-1G>C) c.360-1G>C (n.360-1G>C) n.362-1G>C c.2184-1G>C (n.2184-1G>C) n.1081-1G>C n.663-1G>C n.1082-1G>C n.3056-1G>C c.1419-1G>C (n.1419-1G>C) c.9564-1G>C (n.9564-1G>C) c.5532-1G>C (n.5532-1G>C) c.237-1G>C (n.237-1G>C) c.303-1G>C (n.303-1G>C) n.494-1G>C c.1377-1G>C (n.1377-1G>C) c.2652-1G>C (n.2652-1G>C) c.9552-1G>C (n.9552-1G>C) c.9549-1G>C (n.9549-1G>C) c.9561-1G>C (n.9561-1G>C) c.9540-1G>C (n.9540-1G>C) c.9195-1G>C (n.9195-1G>C) c.5541-1G>C (n.5541-1G>C) c.9435-1G>C (n.9435-1G>C) c.9426-1G>C (n.9426-1G>C) c.9441-1G>C (n.9441-1G>C) c.3738-1G>C (n.3738-1G>C) | |
X | g.31206668C>T | CA267190 | DMD | c.4410-1G>A (n.4410-1G>A) c.360-1G>A (n.360-1G>A) n.362-1G>A c.2184-1G>A (n.2184-1G>A) n.1081-1G>A n.663-1G>A n.1082-1G>A n.3056-1G>A c.1419-1G>A (n.1419-1G>A) c.9564-1G>A (n.9564-1G>A) c.5532-1G>A (n.5532-1G>A) c.237-1G>A (n.237-1G>A) c.303-1G>A (n.303-1G>A) n.494-1G>A c.1377-1G>A (n.1377-1G>A) c.2652-1G>A (n.2652-1G>A) c.9552-1G>A (n.9552-1G>A) c.9549-1G>A (n.9549-1G>A) c.9561-1G>A (n.9561-1G>A) c.9540-1G>A (n.9540-1G>A) c.9195-1G>A (n.9195-1G>A) c.5541-1G>A (n.5541-1G>A) c.9435-1G>A (n.9435-1G>A) c.9426-1G>A (n.9426-1G>A) c.9441-1G>A (n.9441-1G>A) c.3738-1G>A (n.3738-1G>A) | ClinVar dbSNP |
X | g.31206669del | CA2695232316 | DMD | c.4410-2del (n.4410-2del) c.360-2del (n.360-2del) n.362-2del c.2184-2del (n.2184-2del) n.1081-2del n.663-2del n.1082-2del n.3056-2del c.1419-2del (n.1419-2del) c.9564-2del (n.9564-2del) c.5532-2del (n.5532-2del) c.237-2del (n.237-2del) c.303-2del (n.303-2del) n.494-2del c.1377-2del (n.1377-2del) c.2652-2del (n.2652-2del) c.9552-2del (n.9552-2del) c.9549-2del (n.9549-2del) c.9561-2del (n.9561-2del) c.9540-2del (n.9540-2del) c.9195-2del (n.9195-2del) c.5541-2del (n.5541-2del) c.9435-2del (n.9435-2del) c.9426-2del (n.9426-2del) c.9441-2del (n.9441-2del) c.3738-2del (n.3738-2del) | |
X | g.31206669T>A | CA412649643 | DMD | c.4410-2A>T (n.4410-2A>T) c.360-2A>T (n.360-2A>T) n.362-2A>T c.2184-2A>T (n.2184-2A>T) n.1081-2A>T n.663-2A>T n.1082-2A>T n.3056-2A>T c.1419-2A>T (n.1419-2A>T) c.9564-2A>T (n.9564-2A>T) c.5532-2A>T (n.5532-2A>T) c.237-2A>T (n.237-2A>T) c.303-2A>T (n.303-2A>T) n.494-2A>T c.1377-2A>T (n.1377-2A>T) c.2652-2A>T (n.2652-2A>T) c.9552-2A>T (n.9552-2A>T) c.9549-2A>T (n.9549-2A>T) c.9561-2A>T (n.9561-2A>T) c.9540-2A>T (n.9540-2A>T) c.9195-2A>T (n.9195-2A>T) c.5541-2A>T (n.5541-2A>T) c.9435-2A>T (n.9435-2A>T) c.9426-2A>T (n.9426-2A>T) c.9441-2A>T (n.9441-2A>T) c.3738-2A>T (n.3738-2A>T) | |
X | g.31206669T>C | CA412649644 | DMD | c.4410-2A>G (n.4410-2A>G) c.360-2A>G (n.360-2A>G) n.362-2A>G c.2184-2A>G (n.2184-2A>G) n.1081-2A>G n.663-2A>G n.1082-2A>G n.3056-2A>G c.1419-2A>G (n.1419-2A>G) c.9564-2A>G (n.9564-2A>G) c.5532-2A>G (n.5532-2A>G) c.237-2A>G (n.237-2A>G) c.303-2A>G (n.303-2A>G) n.494-2A>G c.1377-2A>G (n.1377-2A>G) c.2652-2A>G (n.2652-2A>G) c.9552-2A>G (n.9552-2A>G) c.9549-2A>G (n.9549-2A>G) c.9561-2A>G (n.9561-2A>G) c.9540-2A>G (n.9540-2A>G) c.9195-2A>G (n.9195-2A>G) c.5541-2A>G (n.5541-2A>G) c.9435-2A>G (n.9435-2A>G) c.9426-2A>G (n.9426-2A>G) c.9441-2A>G (n.9441-2A>G) c.3738-2A>G (n.3738-2A>G) | ClinVar dbSNP |
X | g.31206669T>G | CA412649646 | DMD | c.4410-2A>C (n.4410-2A>C) c.360-2A>C (n.360-2A>C) n.362-2A>C c.2184-2A>C (n.2184-2A>C) n.1081-2A>C n.663-2A>C n.1082-2A>C n.3056-2A>C c.1419-2A>C (n.1419-2A>C) c.9564-2A>C (n.9564-2A>C) c.5532-2A>C (n.5532-2A>C) c.237-2A>C (n.237-2A>C) c.303-2A>C (n.303-2A>C) n.494-2A>C c.1377-2A>C (n.1377-2A>C) c.2652-2A>C (n.2652-2A>C) c.9552-2A>C (n.9552-2A>C) c.9549-2A>C (n.9549-2A>C) c.9561-2A>C (n.9561-2A>C) c.9540-2A>C (n.9540-2A>C) c.9195-2A>C (n.9195-2A>C) c.5541-2A>C (n.5541-2A>C) c.9435-2A>C (n.9435-2A>C) c.9426-2A>C (n.9426-2A>C) c.9441-2A>C (n.9441-2A>C) c.3738-2A>C (n.3738-2A>C) | |
X | g.31206669T= | CA2422348469 | DMD | c.4410-2A= (n.4410-2A=) c.360-2A= (n.360-2A=) n.362-2A= c.2184-2A= (n.2184-2A=) n.1081-2A= n.663-2A= n.1082-2A= n.3056-2A= c.1419-2A= (n.1419-2A=) c.9564-2A= (n.9564-2A=) c.5532-2A= (n.5532-2A=) c.237-2A= (n.237-2A=) c.303-2A= (n.303-2A=) n.494-2A= c.1377-2A= (n.1377-2A=) c.2652-2A= (n.2652-2A=) c.9552-2A= (n.9552-2A=) c.9549-2A= (n.9549-2A=) c.9561-2A= (n.9561-2A=) c.9540-2A= (n.9540-2A=) c.9195-2A= (n.9195-2A=) c.5541-2A= (n.5541-2A=) c.9435-2A= (n.9435-2A=) c.9426-2A= (n.9426-2A=) c.9441-2A= (n.9441-2A=) c.3738-2A= (n.3738-2A=) | |
X | g.31206670A= | CA2422348470 | DMD | c.4410-3T= (n.4410-3T=) c.360-3T= (n.360-3T=) n.362-3T= c.2184-3T= (n.2184-3T=) n.1081-3T= n.663-3T= n.1082-3T= n.3056-3T= c.1419-3T= (n.1419-3T=) c.9564-3T= (n.9564-3T=) c.5532-3T= (n.5532-3T=) c.237-3T= (n.237-3T=) c.303-3T= (n.303-3T=) n.494-3T= c.1377-3T= (n.1377-3T=) c.2652-3T= (n.2652-3T=) c.9552-3T= (n.9552-3T=) c.9549-3T= (n.9549-3T=) c.9561-3T= (n.9561-3T=) c.9540-3T= (n.9540-3T=) c.9195-3T= (n.9195-3T=) c.5541-3T= (n.5541-3T=) c.9435-3T= (n.9435-3T=) c.9426-3T= (n.9426-3T=) c.9441-3T= (n.9441-3T=) c.3738-3T= (n.3738-3T=) | |
X | g.31206670A>C | CA2695232317 | DMD | c.4410-3T>G (n.4410-3T>G) c.360-3T>G (n.360-3T>G) n.362-3T>G c.2184-3T>G (n.2184-3T>G) n.1081-3T>G n.663-3T>G n.1082-3T>G n.3056-3T>G c.1419-3T>G (n.1419-3T>G) c.9564-3T>G (n.9564-3T>G) c.5532-3T>G (n.5532-3T>G) c.237-3T>G (n.237-3T>G) c.303-3T>G (n.303-3T>G) n.494-3T>G c.1377-3T>G (n.1377-3T>G) c.2652-3T>G (n.2652-3T>G) c.9552-3T>G (n.9552-3T>G) c.9549-3T>G (n.9549-3T>G) c.9561-3T>G (n.9561-3T>G) c.9540-3T>G (n.9540-3T>G) c.9195-3T>G (n.9195-3T>G) c.5541-3T>G (n.5541-3T>G) c.9435-3T>G (n.9435-3T>G) c.9426-3T>G (n.9426-3T>G) c.9441-3T>G (n.9441-3T>G) c.3738-3T>G (n.3738-3T>G) | |
X | g.31206670A>G | CA658799637 | DMD | c.4410-3T>C (n.4410-3T>C) c.360-3T>C (n.360-3T>C) n.362-3T>C c.2184-3T>C (n.2184-3T>C) n.1081-3T>C n.663-3T>C n.1082-3T>C n.3056-3T>C c.1419-3T>C (n.1419-3T>C) c.9564-3T>C (n.9564-3T>C) c.5532-3T>C (n.5532-3T>C) c.237-3T>C (n.237-3T>C) c.303-3T>C (n.303-3T>C) n.494-3T>C c.1377-3T>C (n.1377-3T>C) c.2652-3T>C (n.2652-3T>C) c.9552-3T>C (n.9552-3T>C) c.9549-3T>C (n.9549-3T>C) c.9561-3T>C (n.9561-3T>C) c.9540-3T>C (n.9540-3T>C) c.9195-3T>C (n.9195-3T>C) c.5541-3T>C (n.5541-3T>C) c.9435-3T>C (n.9435-3T>C) c.9426-3T>C (n.9426-3T>C) c.9441-3T>C (n.9441-3T>C) c.3738-3T>C (n.3738-3T>C) | ClinVar dbSNP gnomAD v4 |
X | g.31206670A>T | CA2697552922 | DMD | c.4410-3T>A (n.4410-3T>A) c.360-3T>A (n.360-3T>A) n.362-3T>A c.2184-3T>A (n.2184-3T>A) n.1081-3T>A n.663-3T>A n.1082-3T>A n.3056-3T>A c.1419-3T>A (n.1419-3T>A) c.9564-3T>A (n.9564-3T>A) c.5532-3T>A (n.5532-3T>A) c.237-3T>A (n.237-3T>A) c.303-3T>A (n.303-3T>A) n.494-3T>A c.1377-3T>A (n.1377-3T>A) c.2652-3T>A (n.2652-3T>A) c.9552-3T>A (n.9552-3T>A) c.9549-3T>A (n.9549-3T>A) c.9561-3T>A (n.9561-3T>A) c.9540-3T>A (n.9540-3T>A) c.9195-3T>A (n.9195-3T>A) c.5541-3T>A (n.5541-3T>A) c.9435-3T>A (n.9435-3T>A) c.9426-3T>A (n.9426-3T>A) c.9441-3T>A (n.9441-3T>A) c.3738-3T>A (n.3738-3T>A) | ClinVar |
X | g.31206671_31206679del | CA2580100569 | DMD | c.4410-11_4410-3del (n.4410-11_4410-3del) c.360-11_360-3del (n.360-11_360-3del) n.362-11_362-3del c.2184-11_2184-3del (n.2184-11_2184-3del) n.1081-11_1081-3del n.663-11_663-3del n.1082-11_1082-3del n.3056-11_3056-3del c.1419-11_1419-3del (n.1419-11_1419-3del) c.9564-11_9564-3del (n.9564-11_9564-3del) c.5532-11_5532-3del (n.5532-11_5532-3del) c.237-11_237-3del (n.237-11_237-3del) c.303-11_303-3del (n.303-11_303-3del) n.494-11_494-3del c.1377-11_1377-3del (n.1377-11_1377-3del) c.2652-11_2652-3del (n.2652-11_2652-3del) c.9552-11_9552-3del (n.9552-11_9552-3del) c.9549-11_9549-3del (n.9549-11_9549-3del) c.9561-11_9561-3del (n.9561-11_9561-3del) c.9540-11_9540-3del (n.9540-11_9540-3del) c.9195-11_9195-3del (n.9195-11_9195-3del) c.5541-11_5541-3del (n.5541-11_5541-3del) c.9435-11_9435-3del (n.9435-11_9435-3del) c.9426-11_9426-3del (n.9426-11_9426-3del) c.9441-11_9441-3del (n.9441-11_9441-3del) c.3738-11_3738-3del (n.3738-11_3738-3del) | ClinVar |
X | g.31206671T>A | CA641188042 | DMD | c.4410-4A>T (n.4410-4A>T) c.360-4A>T (n.360-4A>T) n.362-4A>T c.2184-4A>T (n.2184-4A>T) n.1081-4A>T n.663-4A>T n.1082-4A>T n.3056-4A>T c.1419-4A>T (n.1419-4A>T) c.9564-4A>T (n.9564-4A>T) c.5532-4A>T (n.5532-4A>T) c.237-4A>T (n.237-4A>T) c.303-4A>T (n.303-4A>T) n.494-4A>T c.1377-4A>T (n.1377-4A>T) c.2652-4A>T (n.2652-4A>T) c.9552-4A>T (n.9552-4A>T) c.9549-4A>T (n.9549-4A>T) c.9561-4A>T (n.9561-4A>T) c.9540-4A>T (n.9540-4A>T) c.9195-4A>T (n.9195-4A>T) c.5541-4A>T (n.5541-4A>T) c.9435-4A>T (n.9435-4A>T) c.9426-4A>T (n.9426-4A>T) c.9441-4A>T (n.9441-4A>T) c.3738-4A>T (n.3738-4A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31206671T= | CA2422348471 | DMD | c.4410-4A= (n.4410-4A=) c.360-4A= (n.360-4A=) n.362-4A= c.2184-4A= (n.2184-4A=) n.1081-4A= n.663-4A= n.1082-4A= n.3056-4A= c.1419-4A= (n.1419-4A=) c.9564-4A= (n.9564-4A=) c.5532-4A= (n.5532-4A=) c.237-4A= (n.237-4A=) c.303-4A= (n.303-4A=) n.494-4A= c.1377-4A= (n.1377-4A=) c.2652-4A= (n.2652-4A=) c.9552-4A= (n.9552-4A=) c.9549-4A= (n.9549-4A=) c.9561-4A= (n.9561-4A=) c.9540-4A= (n.9540-4A=) c.9195-4A= (n.9195-4A=) c.5541-4A= (n.5541-4A=) c.9435-4A= (n.9435-4A=) c.9426-4A= (n.9426-4A=) c.9441-4A= (n.9441-4A=) c.3738-4A= (n.3738-4A=) | |
X | g.31206672del | CA2579578641 | DMD | c.4410-4del (n.4410-4del) c.360-4del (n.360-4del) n.362-4del c.2184-4del (n.2184-4del) n.1081-4del n.663-4del n.1082-4del n.3056-4del c.1419-4del (n.1419-4del) c.9564-4del (n.9564-4del) c.5532-4del (n.5532-4del) c.237-4del (n.237-4del) c.303-4del (n.303-4del) n.494-4del c.1377-4del (n.1377-4del) c.2652-4del (n.2652-4del) c.9552-4del (n.9552-4del) c.9549-4del (n.9549-4del) c.9561-4del (n.9561-4del) c.9540-4del (n.9540-4del) c.9195-4del (n.9195-4del) c.5541-4del (n.5541-4del) c.9435-4del (n.9435-4del) c.9426-4del (n.9426-4del) c.9441-4del (n.9441-4del) c.3738-4del (n.3738-4del) | |
X | g.31206671_31206672insCATAAACATTCAGCAGCCAGTTCAGACACA | CA2820289458 | DMD | c.4410-5_4410-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.4410-5_4410-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.360-5_360-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.360-5_360-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) n.362-5_362-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG c.2184-5_2184-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.2184-5_2184-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) n.1081-5_1081-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG n.663-5_663-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG n.1082-5_1082-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG n.3056-5_3056-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG c.1419-5_1419-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.1419-5_1419-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.9564-5_9564-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.9564-5_9564-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.5532-5_5532-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.5532-5_5532-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.237-5_237-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.237-5_237-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.303-5_303-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.303-5_303-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) n.494-5_494-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG c.1377-5_1377-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.1377-5_1377-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.2652-5_2652-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.2652-5_2652-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.9552-5_9552-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.9552-5_9552-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.9549-5_9549-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.9549-5_9549-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.9561-5_9561-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.9561-5_9561-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.9540-5_9540-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.9540-5_9540-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.9195-5_9195-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.9195-5_9195-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.5541-5_5541-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.5541-5_5541-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.9435-5_9435-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.9435-5_9435-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.9426-5_9426-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.9426-5_9426-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.9441-5_9441-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.9441-5_9441-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) c.3738-5_3738-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG (n.3738-5_3738-4insTGTGTCTGAACTGGCTGCTGAATGTTTATG) | |
X | g.31206672T>C | CA246969 | DMD | c.4410-5A>G (n.4410-5A>G) c.360-5A>G (n.360-5A>G) n.362-5A>G c.2184-5A>G (n.2184-5A>G) n.1081-5A>G n.663-5A>G n.1082-5A>G n.3056-5A>G c.1419-5A>G (n.1419-5A>G) c.9564-5A>G (n.9564-5A>G) c.5532-5A>G (n.5532-5A>G) c.237-5A>G (n.237-5A>G) c.303-5A>G (n.303-5A>G) n.494-5A>G c.1377-5A>G (n.1377-5A>G) c.2652-5A>G (n.2652-5A>G) c.9552-5A>G (n.9552-5A>G) c.9549-5A>G (n.9549-5A>G) c.9561-5A>G (n.9561-5A>G) c.9540-5A>G (n.9540-5A>G) c.9195-5A>G (n.9195-5A>G) c.5541-5A>G (n.5541-5A>G) c.9435-5A>G (n.9435-5A>G) c.9426-5A>G (n.9426-5A>G) c.9441-5A>G (n.9441-5A>G) c.3738-5A>G (n.3738-5A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.31206672T= | CA2422348472 | DMD | c.4410-5A= (n.4410-5A=) c.360-5A= (n.360-5A=) n.362-5A= c.2184-5A= (n.2184-5A=) n.1081-5A= n.663-5A= n.1082-5A= n.3056-5A= c.1419-5A= (n.1419-5A=) c.9564-5A= (n.9564-5A=) c.5532-5A= (n.5532-5A=) c.237-5A= (n.237-5A=) c.303-5A= (n.303-5A=) n.494-5A= c.1377-5A= (n.1377-5A=) c.2652-5A= (n.2652-5A=) c.9552-5A= (n.9552-5A=) c.9549-5A= (n.9549-5A=) c.9561-5A= (n.9561-5A=) c.9540-5A= (n.9540-5A=) c.9195-5A= (n.9195-5A=) c.5541-5A= (n.5541-5A=) c.9435-5A= (n.9435-5A=) c.9426-5A= (n.9426-5A=) c.9441-5A= (n.9441-5A=) c.3738-5A= (n.3738-5A=) | |
X | g.31206673A= | CA2422348473 | DMD | c.4410-6T= (n.4410-6T=) c.360-6T= (n.360-6T=) n.362-6T= c.2184-6T= (n.2184-6T=) n.1081-6T= n.663-6T= n.1082-6T= n.3056-6T= c.1419-6T= (n.1419-6T=) c.9564-6T= (n.9564-6T=) c.5532-6T= (n.5532-6T=) c.237-6T= (n.237-6T=) c.303-6T= (n.303-6T=) n.494-6T= c.1377-6T= (n.1377-6T=) c.2652-6T= (n.2652-6T=) c.9552-6T= (n.9552-6T=) c.9549-6T= (n.9549-6T=) c.9561-6T= (n.9561-6T=) c.9540-6T= (n.9540-6T=) c.9195-6T= (n.9195-6T=) c.5541-6T= (n.5541-6T=) c.9435-6T= (n.9435-6T=) c.9426-6T= (n.9426-6T=) c.9441-6T= (n.9441-6T=) c.3738-6T= (n.3738-6T=) | |
X | g.31206673A>G | CA10577162 | DMD | c.4410-6T>C (n.4410-6T>C) c.360-6T>C (n.360-6T>C) n.362-6T>C c.2184-6T>C (n.2184-6T>C) n.1081-6T>C n.663-6T>C n.1082-6T>C n.3056-6T>C c.1419-6T>C (n.1419-6T>C) c.9564-6T>C (n.9564-6T>C) c.5532-6T>C (n.5532-6T>C) c.237-6T>C (n.237-6T>C) c.303-6T>C (n.303-6T>C) n.494-6T>C c.1377-6T>C (n.1377-6T>C) c.2652-6T>C (n.2652-6T>C) c.9552-6T>C (n.9552-6T>C) c.9549-6T>C (n.9549-6T>C) c.9561-6T>C (n.9561-6T>C) c.9540-6T>C (n.9540-6T>C) c.9195-6T>C (n.9195-6T>C) c.5541-6T>C (n.5541-6T>C) c.9435-6T>C (n.9435-6T>C) c.9426-6T>C (n.9426-6T>C) c.9441-6T>C (n.9441-6T>C) c.3738-6T>C (n.3738-6T>C) | ClinVar dbSNP |
X | g.31206674T>A | CA2573158736 | DMD | c.4410-7A>T (n.4410-7A>T) c.360-7A>T (n.360-7A>T) n.362-7A>T c.2184-7A>T (n.2184-7A>T) n.1081-7A>T n.663-7A>T n.1082-7A>T n.3056-7A>T c.1419-7A>T (n.1419-7A>T) c.9564-7A>T (n.9564-7A>T) c.5532-7A>T (n.5532-7A>T) c.237-7A>T (n.237-7A>T) c.303-7A>T (n.303-7A>T) n.494-7A>T c.1377-7A>T (n.1377-7A>T) c.2652-7A>T (n.2652-7A>T) c.9552-7A>T (n.9552-7A>T) c.9549-7A>T (n.9549-7A>T) c.9561-7A>T (n.9561-7A>T) c.9540-7A>T (n.9540-7A>T) c.9195-7A>T (n.9195-7A>T) c.5541-7A>T (n.5541-7A>T) c.9435-7A>T (n.9435-7A>T) c.9426-7A>T (n.9426-7A>T) c.9441-7A>T (n.9441-7A>T) c.3738-7A>T (n.3738-7A>T) | ClinVar dbSNP |
X | g.31206674T>C | CA874609209 | DMD | c.4410-7A>G (n.4410-7A>G) c.360-7A>G (n.360-7A>G) n.362-7A>G c.2184-7A>G (n.2184-7A>G) n.1081-7A>G n.663-7A>G n.1082-7A>G n.3056-7A>G c.1419-7A>G (n.1419-7A>G) c.9564-7A>G (n.9564-7A>G) c.5532-7A>G (n.5532-7A>G) c.237-7A>G (n.237-7A>G) c.303-7A>G (n.303-7A>G) n.494-7A>G c.1377-7A>G (n.1377-7A>G) c.2652-7A>G (n.2652-7A>G) c.9552-7A>G (n.9552-7A>G) c.9549-7A>G (n.9549-7A>G) c.9561-7A>G (n.9561-7A>G) c.9540-7A>G (n.9540-7A>G) c.9195-7A>G (n.9195-7A>G) c.5541-7A>G (n.5541-7A>G) c.9435-7A>G (n.9435-7A>G) c.9426-7A>G (n.9426-7A>G) c.9441-7A>G (n.9441-7A>G) c.3738-7A>G (n.3738-7A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.31206674T= | CA2422348474 | DMD | c.4410-7A= (n.4410-7A=) c.360-7A= (n.360-7A=) n.362-7A= c.2184-7A= (n.2184-7A=) n.1081-7A= n.663-7A= n.1082-7A= n.3056-7A= c.1419-7A= (n.1419-7A=) c.9564-7A= (n.9564-7A=) c.5532-7A= (n.5532-7A=) c.237-7A= (n.237-7A=) c.303-7A= (n.303-7A=) n.494-7A= c.1377-7A= (n.1377-7A=) c.2652-7A= (n.2652-7A=) c.9552-7A= (n.9552-7A=) c.9549-7A= (n.9549-7A=) c.9561-7A= (n.9561-7A=) c.9540-7A= (n.9540-7A=) c.9195-7A= (n.9195-7A=) c.5541-7A= (n.5541-7A=) c.9435-7A= (n.9435-7A=) c.9426-7A= (n.9426-7A=) c.9441-7A= (n.9441-7A=) c.3738-7A= (n.3738-7A=) | |
X | g.31206675G>A | CA2693386985 | DMD | c.4410-8C>T (n.4410-8C>T) c.360-8C>T (n.360-8C>T) n.362-8C>T c.2184-8C>T (n.2184-8C>T) n.1081-8C>T n.663-8C>T n.1082-8C>T n.3056-8C>T c.1419-8C>T (n.1419-8C>T) c.9564-8C>T (n.9564-8C>T) c.5532-8C>T (n.5532-8C>T) c.237-8C>T (n.237-8C>T) c.303-8C>T (n.303-8C>T) n.494-8C>T c.1377-8C>T (n.1377-8C>T) c.2652-8C>T (n.2652-8C>T) c.9552-8C>T (n.9552-8C>T) c.9549-8C>T (n.9549-8C>T) c.9561-8C>T (n.9561-8C>T) c.9540-8C>T (n.9540-8C>T) c.9195-8C>T (n.9195-8C>T) c.5541-8C>T (n.5541-8C>T) c.9435-8C>T (n.9435-8C>T) c.9426-8C>T (n.9426-8C>T) c.9441-8C>T (n.9441-8C>T) c.3738-8C>T (n.3738-8C>T) | gnomAD v4 |
X | g.31206676A>G | CA2693386986 | DMD | c.4410-9T>C (n.4410-9T>C) c.360-9T>C (n.360-9T>C) n.362-9T>C c.2184-9T>C (n.2184-9T>C) n.1081-9T>C n.663-9T>C n.1082-9T>C n.3056-9T>C c.1419-9T>C (n.1419-9T>C) c.9564-9T>C (n.9564-9T>C) c.5532-9T>C (n.5532-9T>C) c.237-9T>C (n.237-9T>C) c.303-9T>C (n.303-9T>C) n.494-9T>C c.1377-9T>C (n.1377-9T>C) c.2652-9T>C (n.2652-9T>C) c.9552-9T>C (n.9552-9T>C) c.9549-9T>C (n.9549-9T>C) c.9561-9T>C (n.9561-9T>C) c.9540-9T>C (n.9540-9T>C) c.9195-9T>C (n.9195-9T>C) c.5541-9T>C (n.5541-9T>C) c.9435-9T>C (n.9435-9T>C) c.9426-9T>C (n.9426-9T>C) c.9441-9T>C (n.9441-9T>C) c.3738-9T>C (n.3738-9T>C) | gnomAD v4 |
X | g.31206677_31206678insCATTCAGCAGCCAGTTCA | CA2820289459 | DMD | c.4410-10_4410-9insGAACTGGCTGCTGAATGT (n.4410-10_4410-9insGAACTGGCTGCTGAATGT) c.360-10_360-9insGAACTGGCTGCTGAATGT (n.360-10_360-9insGAACTGGCTGCTGAATGT) n.362-10_362-9insGAACTGGCTGCTGAATGT c.2184-10_2184-9insGAACTGGCTGCTGAATGT (n.2184-10_2184-9insGAACTGGCTGCTGAATGT) n.1081-10_1081-9insGAACTGGCTGCTGAATGT n.663-10_663-9insGAACTGGCTGCTGAATGT n.1082-10_1082-9insGAACTGGCTGCTGAATGT n.3056-10_3056-9insGAACTGGCTGCTGAATGT c.1419-10_1419-9insGAACTGGCTGCTGAATGT (n.1419-10_1419-9insGAACTGGCTGCTGAATGT) c.9564-10_9564-9insGAACTGGCTGCTGAATGT (n.9564-10_9564-9insGAACTGGCTGCTGAATGT) c.5532-10_5532-9insGAACTGGCTGCTGAATGT (n.5532-10_5532-9insGAACTGGCTGCTGAATGT) c.237-10_237-9insGAACTGGCTGCTGAATGT (n.237-10_237-9insGAACTGGCTGCTGAATGT) c.303-10_303-9insGAACTGGCTGCTGAATGT (n.303-10_303-9insGAACTGGCTGCTGAATGT) n.494-10_494-9insGAACTGGCTGCTGAATGT c.1377-10_1377-9insGAACTGGCTGCTGAATGT (n.1377-10_1377-9insGAACTGGCTGCTGAATGT) c.2652-10_2652-9insGAACTGGCTGCTGAATGT (n.2652-10_2652-9insGAACTGGCTGCTGAATGT) c.9552-10_9552-9insGAACTGGCTGCTGAATGT (n.9552-10_9552-9insGAACTGGCTGCTGAATGT) c.9549-10_9549-9insGAACTGGCTGCTGAATGT (n.9549-10_9549-9insGAACTGGCTGCTGAATGT) c.9561-10_9561-9insGAACTGGCTGCTGAATGT (n.9561-10_9561-9insGAACTGGCTGCTGAATGT) c.9540-10_9540-9insGAACTGGCTGCTGAATGT (n.9540-10_9540-9insGAACTGGCTGCTGAATGT) c.9195-10_9195-9insGAACTGGCTGCTGAATGT (n.9195-10_9195-9insGAACTGGCTGCTGAATGT) c.5541-10_5541-9insGAACTGGCTGCTGAATGT (n.5541-10_5541-9insGAACTGGCTGCTGAATGT) c.9435-10_9435-9insGAACTGGCTGCTGAATGT (n.9435-10_9435-9insGAACTGGCTGCTGAATGT) c.9426-10_9426-9insGAACTGGCTGCTGAATGT (n.9426-10_9426-9insGAACTGGCTGCTGAATGT) c.9441-10_9441-9insGAACTGGCTGCTGAATGT (n.9441-10_9441-9insGAACTGGCTGCTGAATGT) c.3738-10_3738-9insGAACTGGCTGCTGAATGT (n.3738-10_3738-9insGAACTGGCTGCTGAATGT) | |
X | g.31206678G>C | CA2820289460 | DMD | c.4410-11C>G (n.4410-11C>G) c.360-11C>G (n.360-11C>G) n.362-11C>G c.2184-11C>G (n.2184-11C>G) n.1081-11C>G n.663-11C>G n.1082-11C>G n.3056-11C>G c.1419-11C>G (n.1419-11C>G) c.9564-11C>G (n.9564-11C>G) c.5532-11C>G (n.5532-11C>G) c.237-11C>G (n.237-11C>G) c.303-11C>G (n.303-11C>G) n.494-11C>G c.1377-11C>G (n.1377-11C>G) c.2652-11C>G (n.2652-11C>G) c.9552-11C>G (n.9552-11C>G) c.9549-11C>G (n.9549-11C>G) c.9561-11C>G (n.9561-11C>G) c.9540-11C>G (n.9540-11C>G) c.9195-11C>G (n.9195-11C>G) c.5541-11C>G (n.5541-11C>G) c.9435-11C>G (n.9435-11C>G) c.9426-11C>G (n.9426-11C>G) c.9441-11C>G (n.9441-11C>G) c.3738-11C>G (n.3738-11C>G) | |
X | g.31206678G>T | CA2562075834 | DMD | c.4410-11C>A (n.4410-11C>A) c.360-11C>A (n.360-11C>A) n.362-11C>A c.2184-11C>A (n.2184-11C>A) n.1081-11C>A n.663-11C>A n.1082-11C>A n.3056-11C>A c.1419-11C>A (n.1419-11C>A) c.9564-11C>A (n.9564-11C>A) c.5532-11C>A (n.5532-11C>A) c.237-11C>A (n.237-11C>A) c.303-11C>A (n.303-11C>A) n.494-11C>A c.1377-11C>A (n.1377-11C>A) c.2652-11C>A (n.2652-11C>A) c.9552-11C>A (n.9552-11C>A) c.9549-11C>A (n.9549-11C>A) c.9561-11C>A (n.9561-11C>A) c.9540-11C>A (n.9540-11C>A) c.9195-11C>A (n.9195-11C>A) c.5541-11C>A (n.5541-11C>A) c.9435-11C>A (n.9435-11C>A) c.9426-11C>A (n.9426-11C>A) c.9441-11C>A (n.9441-11C>A) c.3738-11C>A (n.3738-11C>A) | |
X | g.31206679_31206680insCACAT | CA2820289461 | DMD | c.4410-13_4410-12insATGTG (n.4410-13_4410-12insATGTG) c.360-13_360-12insATGTG (n.360-13_360-12insATGTG) n.362-13_362-12insATGTG c.2184-13_2184-12insATGTG (n.2184-13_2184-12insATGTG) n.1081-13_1081-12insATGTG n.663-13_663-12insATGTG n.1082-13_1082-12insATGTG n.3056-13_3056-12insATGTG c.1419-13_1419-12insATGTG (n.1419-13_1419-12insATGTG) c.9564-13_9564-12insATGTG (n.9564-13_9564-12insATGTG) c.5532-13_5532-12insATGTG (n.5532-13_5532-12insATGTG) c.237-13_237-12insATGTG (n.237-13_237-12insATGTG) c.303-13_303-12insATGTG (n.303-13_303-12insATGTG) n.494-13_494-12insATGTG c.1377-13_1377-12insATGTG (n.1377-13_1377-12insATGTG) c.2652-13_2652-12insATGTG (n.2652-13_2652-12insATGTG) c.9552-13_9552-12insATGTG (n.9552-13_9552-12insATGTG) c.9549-13_9549-12insATGTG (n.9549-13_9549-12insATGTG) c.9561-13_9561-12insATGTG (n.9561-13_9561-12insATGTG) c.9540-13_9540-12insATGTG (n.9540-13_9540-12insATGTG) c.9195-13_9195-12insATGTG (n.9195-13_9195-12insATGTG) c.5541-13_5541-12insATGTG (n.5541-13_5541-12insATGTG) c.9435-13_9435-12insATGTG (n.9435-13_9435-12insATGTG) c.9426-13_9426-12insATGTG (n.9426-13_9426-12insATGTG) c.9441-13_9441-12insATGTG (n.9441-13_9441-12insATGTG) c.3738-13_3738-12insATGTG (n.3738-13_3738-12insATGTG) | |
X | g.31206680A>T | CA2820289462 | DMD | c.4410-13T>A (n.4410-13T>A) c.360-13T>A (n.360-13T>A) n.362-13T>A c.2184-13T>A (n.2184-13T>A) n.1081-13T>A n.663-13T>A n.1082-13T>A n.3056-13T>A c.1419-13T>A (n.1419-13T>A) c.9564-13T>A (n.9564-13T>A) c.5532-13T>A (n.5532-13T>A) c.237-13T>A (n.237-13T>A) c.303-13T>A (n.303-13T>A) n.494-13T>A c.1377-13T>A (n.1377-13T>A) c.2652-13T>A (n.2652-13T>A) c.9552-13T>A (n.9552-13T>A) c.9549-13T>A (n.9549-13T>A) c.9561-13T>A (n.9561-13T>A) c.9540-13T>A (n.9540-13T>A) c.9195-13T>A (n.9195-13T>A) c.5541-13T>A (n.5541-13T>A) c.9435-13T>A (n.9435-13T>A) c.9426-13T>A (n.9426-13T>A) c.9441-13T>A (n.9441-13T>A) c.3738-13T>A (n.3738-13T>A) | |
X | g.31206682C>A | CA2820289464 | DMD | c.4410-15G>T (n.4410-15G>T) c.360-15G>T (n.360-15G>T) n.362-15G>T c.2184-15G>T (n.2184-15G>T) n.1081-15G>T n.663-15G>T n.1082-15G>T n.3056-15G>T c.1419-15G>T (n.1419-15G>T) c.9564-15G>T (n.9564-15G>T) c.5532-15G>T (n.5532-15G>T) c.237-15G>T (n.237-15G>T) c.303-15G>T (n.303-15G>T) n.494-15G>T c.1377-15G>T (n.1377-15G>T) c.2652-15G>T (n.2652-15G>T) c.9552-15G>T (n.9552-15G>T) c.9549-15G>T (n.9549-15G>T) c.9561-15G>T (n.9561-15G>T) c.9540-15G>T (n.9540-15G>T) c.9195-15G>T (n.9195-15G>T) c.5541-15G>T (n.5541-15G>T) c.9435-15G>T (n.9435-15G>T) c.9426-15G>T (n.9426-15G>T) c.9441-15G>T (n.9441-15G>T) c.3738-15G>T (n.3738-15G>T) | |
X | g.31206682C>T | CA2693386987 | DMD | c.4410-15G>A (n.4410-15G>A) c.360-15G>A (n.360-15G>A) n.362-15G>A c.2184-15G>A (n.2184-15G>A) n.1081-15G>A n.663-15G>A n.1082-15G>A n.3056-15G>A c.1419-15G>A (n.1419-15G>A) c.9564-15G>A (n.9564-15G>A) c.5532-15G>A (n.5532-15G>A) c.237-15G>A (n.237-15G>A) c.303-15G>A (n.303-15G>A) n.494-15G>A c.1377-15G>A (n.1377-15G>A) c.2652-15G>A (n.2652-15G>A) c.9552-15G>A (n.9552-15G>A) c.9549-15G>A (n.9549-15G>A) c.9561-15G>A (n.9561-15G>A) c.9540-15G>A (n.9540-15G>A) c.9195-15G>A (n.9195-15G>A) c.5541-15G>A (n.5541-15G>A) c.9435-15G>A (n.9435-15G>A) c.9426-15G>A (n.9426-15G>A) c.9441-15G>A (n.9441-15G>A) c.3738-15G>A (n.3738-15G>A) | ClinVar gnomAD v4 |
X | g.31206683A>C | CA2820289465 | DMD | c.4410-16T>G (n.4410-16T>G) c.360-16T>G (n.360-16T>G) n.362-16T>G c.2184-16T>G (n.2184-16T>G) n.1081-16T>G n.663-16T>G n.1082-16T>G n.3056-16T>G c.1419-16T>G (n.1419-16T>G) c.9564-16T>G (n.9564-16T>G) c.5532-16T>G (n.5532-16T>G) c.237-16T>G (n.237-16T>G) c.303-16T>G (n.303-16T>G) n.494-16T>G c.1377-16T>G (n.1377-16T>G) c.2652-16T>G (n.2652-16T>G) c.9552-16T>G (n.9552-16T>G) c.9549-16T>G (n.9549-16T>G) c.9561-16T>G (n.9561-16T>G) c.9540-16T>G (n.9540-16T>G) c.9195-16T>G (n.9195-16T>G) c.5541-16T>G (n.5541-16T>G) c.9435-16T>G (n.9435-16T>G) c.9426-16T>G (n.9426-16T>G) c.9441-16T>G (n.9441-16T>G) c.3738-16T>G (n.3738-16T>G) | |
X | g.31206684_31206685del | CA2820289466 | DMD | c.4410-17_4410-16del (n.4410-17_4410-16del) c.360-17_360-16del (n.360-17_360-16del) n.362-17_362-16del c.2184-17_2184-16del (n.2184-17_2184-16del) n.1081-17_1081-16del n.663-17_663-16del n.1082-17_1082-16del n.3056-17_3056-16del c.1419-17_1419-16del (n.1419-17_1419-16del) c.9564-17_9564-16del (n.9564-17_9564-16del) c.5532-17_5532-16del (n.5532-17_5532-16del) c.237-17_237-16del (n.237-17_237-16del) c.303-17_303-16del (n.303-17_303-16del) n.494-17_494-16del c.1377-17_1377-16del (n.1377-17_1377-16del) c.2652-17_2652-16del (n.2652-17_2652-16del) c.9552-17_9552-16del (n.9552-17_9552-16del) c.9549-17_9549-16del (n.9549-17_9549-16del) c.9561-17_9561-16del (n.9561-17_9561-16del) c.9540-17_9540-16del (n.9540-17_9540-16del) c.9195-17_9195-16del (n.9195-17_9195-16del) c.5541-17_5541-16del (n.5541-17_5541-16del) c.9435-17_9435-16del (n.9435-17_9435-16del) c.9426-17_9426-16del (n.9426-17_9426-16del) c.9441-17_9441-16del (n.9441-17_9441-16del) c.3738-17_3738-16del (n.3738-17_3738-16del) |