WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31204002_31204020dup | CA2573158725 | DMD | c.4595_4613dup (p.Asn1540CysfsTer7) c.545_563dup (p.Asn190CysfsTer7) n.547_565dup c.2369_2387dup (p.Asn798CysfsTer7) n.1266_1284dup n.848_866dup n.1267_1285dup n.3241_3259dup c.1604_1622dup (p.Asn543CysfsTer7) c.9749_9767dup (p.Asn3258CysfsTer7) c.5717_5735dup (p.Asn1914CysfsTer7) c.422_440dup (p.Asn149CysfsTer7) c.488_506dup (p.Asn171CysfsTer7) n.679_697dup c.1562_1580dup (p.Asn529CysfsTer7) c.2837_2855dup (p.Asn954CysfsTer7) c.9737_9755dup (p.Asn3254CysfsTer7) c.119_137dup (p.Asn48CysfsTer7) c.9734_9752dup (p.Asn3253CysfsTer7) c.9746_9764dup (p.Asn3257CysfsTer7) c.9725_9743dup (p.Asn3250CysfsTer7) c.9380_9398dup (p.Asn3135CysfsTer7) c.5726_5744dup (p.Asn1917CysfsTer7) c.9620_9638dup (p.Asn3215CysfsTer7) c.9611_9629dup (p.Asn3212CysfsTer7) c.9626_9644dup (p.Asn3217CysfsTer7) c.3923_3941dup (p.Asn1316CysfsTer7) | ClinVar dbSNP |
| X | g.31204018T>A | CA412648498 | DMD | c.4596A>T (p.Glu1532Asp) c.546A>T (p.Glu182Asp) n.548A>T c.2370A>T (p.Glu790Asp) n.1267A>T n.849A>T n.1268A>T n.3242A>T c.1605A>T (p.Glu535Asp) c.9750A>T (p.Glu3250Asp) c.5718A>T (p.Glu1906Asp) c.423A>T (p.Glu141Asp) c.489A>T (p.Glu163Asp) n.680A>T c.1563A>T (p.Glu521Asp) c.2838A>T (p.Glu946Asp) c.9738A>T (p.Glu3246Asp) c.120A>T (p.Glu40Asp) c.9735A>T (p.Glu3245Asp) c.9747A>T (p.Glu3249Asp) c.9726A>T (p.Glu3242Asp) c.9381A>T (p.Glu3127Asp) c.5727A>T (p.Glu1909Asp) c.9621A>T (p.Glu3207Asp) c.9612A>T (p.Glu3204Asp) c.9627A>T (p.Glu3209Asp) c.3924A>T (p.Glu1308Asp) | |
| X | g.31204018T>C | CA515856898 | DMD | c.4596A>G (p.Glu1532=) c.546A>G (p.Glu182=) n.548A>G c.2370A>G (p.Glu790=) n.1267A>G n.849A>G n.1268A>G n.3242A>G c.1605A>G (p.Glu535=) c.9750A>G (p.Glu3250=) c.5718A>G (p.Glu1906=) c.423A>G (p.Glu141=) c.489A>G (p.Glu163=) n.680A>G c.1563A>G (p.Glu521=) c.2838A>G (p.Glu946=) c.9738A>G (p.Glu3246=) c.120A>G (p.Glu40=) c.9735A>G (p.Glu3245=) c.9747A>G (p.Glu3249=) c.9726A>G (p.Glu3242=) c.9381A>G (p.Glu3127=) c.5727A>G (p.Glu1909=) c.9621A>G (p.Glu3207=) c.9612A>G (p.Glu3204=) c.9627A>G (p.Glu3209=) c.3924A>G (p.Glu1308=) | gnomAD v4 |
| X | g.31204018T>G | CA412648500 | DMD | c.4596A>C (p.Glu1532Asp) c.546A>C (p.Glu182Asp) n.548A>C c.2370A>C (p.Glu790Asp) n.1267A>C n.849A>C n.1268A>C n.3242A>C c.1605A>C (p.Glu535Asp) c.9750A>C (p.Glu3250Asp) c.5718A>C (p.Glu1906Asp) c.423A>C (p.Glu141Asp) c.489A>C (p.Glu163Asp) n.680A>C c.1563A>C (p.Glu521Asp) c.2838A>C (p.Glu946Asp) c.9738A>C (p.Glu3246Asp) c.120A>C (p.Glu40Asp) c.9735A>C (p.Glu3245Asp) c.9747A>C (p.Glu3249Asp) c.9726A>C (p.Glu3242Asp) c.9381A>C (p.Glu3127Asp) c.5727A>C (p.Glu1909Asp) c.9621A>C (p.Glu3207Asp) c.9612A>C (p.Glu3204Asp) c.9627A>C (p.Glu3209Asp) c.3924A>C (p.Glu1308Asp) | gnomAD v4 |
| X | g.31204019T>A | CA412648502 | DMD | c.4595A>T (p.Glu1532Val) c.545A>T (p.Glu182Val) n.547A>T c.2369A>T (p.Glu790Val) n.1266A>T n.848A>T n.1267A>T n.3241A>T c.1604A>T (p.Glu535Val) c.9749A>T (p.Glu3250Val) c.5717A>T (p.Glu1906Val) c.422A>T (p.Glu141Val) c.488A>T (p.Glu163Val) n.679A>T c.1562A>T (p.Glu521Val) c.2837A>T (p.Glu946Val) c.9737A>T (p.Glu3246Val) c.119A>T (p.Glu40Val) c.9734A>T (p.Glu3245Val) c.9746A>T (p.Glu3249Val) c.9725A>T (p.Glu3242Val) c.9380A>T (p.Glu3127Val) c.5726A>T (p.Glu1909Val) c.9620A>T (p.Glu3207Val) c.9611A>T (p.Glu3204Val) c.9626A>T (p.Glu3209Val) c.3923A>T (p.Glu1308Val) | |
| X | g.31204019T>C | CA412648503 | DMD | c.4595A>G (p.Glu1532Gly) c.545A>G (p.Glu182Gly) n.547A>G c.2369A>G (p.Glu790Gly) n.1266A>G n.848A>G n.1267A>G n.3241A>G c.1604A>G (p.Glu535Gly) c.9749A>G (p.Glu3250Gly) c.5717A>G (p.Glu1906Gly) c.422A>G (p.Glu141Gly) c.488A>G (p.Glu163Gly) n.679A>G c.1562A>G (p.Glu521Gly) c.2837A>G (p.Glu946Gly) c.9737A>G (p.Glu3246Gly) c.119A>G (p.Glu40Gly) c.9734A>G (p.Glu3245Gly) c.9746A>G (p.Glu3249Gly) c.9725A>G (p.Glu3242Gly) c.9380A>G (p.Glu3127Gly) c.5726A>G (p.Glu1909Gly) c.9620A>G (p.Glu3207Gly) c.9611A>G (p.Glu3204Gly) c.9626A>G (p.Glu3209Gly) c.3923A>G (p.Glu1308Gly) | |
| X | g.31204019T>G | CA412648504 | DMD | c.4595A>C (p.Glu1532Ala) c.545A>C (p.Glu182Ala) n.547A>C c.2369A>C (p.Glu790Ala) n.1266A>C n.848A>C n.1267A>C n.3241A>C c.1604A>C (p.Glu535Ala) c.9749A>C (p.Glu3250Ala) c.5717A>C (p.Glu1906Ala) c.422A>C (p.Glu141Ala) c.488A>C (p.Glu163Ala) n.679A>C c.1562A>C (p.Glu521Ala) c.2837A>C (p.Glu946Ala) c.9737A>C (p.Glu3246Ala) c.119A>C (p.Glu40Ala) c.9734A>C (p.Glu3245Ala) c.9746A>C (p.Glu3249Ala) c.9725A>C (p.Glu3242Ala) c.9380A>C (p.Glu3127Ala) c.5726A>C (p.Glu1909Ala) c.9620A>C (p.Glu3207Ala) c.9611A>C (p.Glu3204Ala) c.9626A>C (p.Glu3209Ala) c.3923A>C (p.Glu1308Ala) | ClinVar dbSNP |
| X | g.31204020C>A | CA412648505 | DMD | c.4594G>T (p.Glu1532Ter) c.544G>T (p.Glu182Ter) n.546G>T c.2368G>T (p.Glu790Ter) n.1265G>T n.847G>T n.1266G>T n.3240G>T c.1603G>T (p.Glu535Ter) c.9748G>T (p.Glu3250Ter) c.5716G>T (p.Glu1906Ter) c.421G>T (p.Glu141Ter) c.487G>T (p.Glu163Ter) n.678G>T c.1561G>T (p.Glu521Ter) c.2836G>T (p.Glu946Ter) c.9736G>T (p.Glu3246Ter) c.118G>T (p.Glu40Ter) c.9733G>T (p.Glu3245Ter) c.9745G>T (p.Glu3249Ter) c.9724G>T (p.Glu3242Ter) c.9379G>T (p.Glu3127Ter) c.5725G>T (p.Glu1909Ter) c.9619G>T (p.Glu3207Ter) c.9610G>T (p.Glu3204Ter) c.9625G>T (p.Glu3209Ter) c.3922G>T (p.Glu1308Ter) | dbSNP |
| X | g.31204020C= | CA2422347566 | DMD | c.4594G= (p.Glu1532=) c.544G= (p.Glu182=) n.546G= c.2368G= (p.Glu790=) n.1265G= n.847G= n.1266G= n.3240G= c.1603G= (p.Glu535=) c.9748G= (p.Glu3250=) c.5716G= (p.Glu1906=) c.421G= (p.Glu141=) c.487G= (p.Glu163=) n.678G= c.1561G= (p.Glu521=) c.2836G= (p.Glu946=) c.9736G= (p.Glu3246=) c.118G= (p.Glu40=) c.9733G= (p.Glu3245=) c.9745G= (p.Glu3249=) c.9724G= (p.Glu3242=) c.9379G= (p.Glu3127=) c.5725G= (p.Glu1909=) c.9619G= (p.Glu3207=) c.9610G= (p.Glu3204=) c.9625G= (p.Glu3209=) c.3922G= (p.Glu1308=) | |
| X | g.31204020C>G | CA412648508 | DMD | c.4594G>C (p.Glu1532Gln) c.544G>C (p.Glu182Gln) n.546G>C c.2368G>C (p.Glu790Gln) n.1265G>C n.847G>C n.1266G>C n.3240G>C c.1603G>C (p.Glu535Gln) c.9748G>C (p.Glu3250Gln) c.5716G>C (p.Glu1906Gln) c.421G>C (p.Glu141Gln) c.487G>C (p.Glu163Gln) n.678G>C c.1561G>C (p.Glu521Gln) c.2836G>C (p.Glu946Gln) c.9736G>C (p.Glu3246Gln) c.118G>C (p.Glu40Gln) c.9733G>C (p.Glu3245Gln) c.9745G>C (p.Glu3249Gln) c.9724G>C (p.Glu3242Gln) c.9379G>C (p.Glu3127Gln) c.5725G>C (p.Glu1909Gln) c.9619G>C (p.Glu3207Gln) c.9610G>C (p.Glu3204Gln) c.9625G>C (p.Glu3209Gln) c.3922G>C (p.Glu1308Gln) | |
| X | g.31204020C>T | CA412648506 | DMD | c.4594G>A (p.Glu1532Lys) c.544G>A (p.Glu182Lys) n.546G>A c.2368G>A (p.Glu790Lys) n.1265G>A n.847G>A n.1266G>A n.3240G>A c.1603G>A (p.Glu535Lys) c.9748G>A (p.Glu3250Lys) c.5716G>A (p.Glu1906Lys) c.421G>A (p.Glu141Lys) c.487G>A (p.Glu163Lys) n.678G>A c.1561G>A (p.Glu521Lys) c.2836G>A (p.Glu946Lys) c.9736G>A (p.Glu3246Lys) c.118G>A (p.Glu40Lys) c.9733G>A (p.Glu3245Lys) c.9745G>A (p.Glu3249Lys) c.9724G>A (p.Glu3242Lys) c.9379G>A (p.Glu3127Lys) c.5725G>A (p.Glu1909Lys) c.9619G>A (p.Glu3207Lys) c.9610G>A (p.Glu3204Lys) c.9625G>A (p.Glu3209Lys) c.3922G>A (p.Glu1308Lys) | ClinVar dbSNP |
| X | g.31204021A>C | CA515856899 | DMD | c.4593T>G (p.Gly1531=) c.543T>G (p.Gly181=) n.545T>G c.2367T>G (p.Gly789=) n.1264T>G n.846T>G n.1265T>G n.3239T>G c.1602T>G (p.Gly534=) c.9747T>G (p.Gly3249=) c.5715T>G (p.Gly1905=) c.420T>G (p.Gly140=) c.486T>G (p.Gly162=) n.677T>G c.1560T>G (p.Gly520=) c.2835T>G (p.Gly945=) c.9735T>G (p.Gly3245=) c.117T>G (p.Gly39=) c.9732T>G (p.Gly3244=) c.9744T>G (p.Gly3248=) c.9723T>G (p.Gly3241=) c.9378T>G (p.Gly3126=) c.5724T>G (p.Gly1908=) c.9618T>G (p.Gly3206=) c.9609T>G (p.Gly3203=) c.9624T>G (p.Gly3208=) c.3921T>G (p.Gly1307=) | |
| X | g.31204021A>G | CA515856902 | DMD | c.4593T>C (p.Gly1531=) c.543T>C (p.Gly181=) n.545T>C c.2367T>C (p.Gly789=) n.1264T>C n.846T>C n.1265T>C n.3239T>C c.1602T>C (p.Gly534=) c.9747T>C (p.Gly3249=) c.5715T>C (p.Gly1905=) c.420T>C (p.Gly140=) c.486T>C (p.Gly162=) n.677T>C c.1560T>C (p.Gly520=) c.2835T>C (p.Gly945=) c.9735T>C (p.Gly3245=) c.117T>C (p.Gly39=) c.9732T>C (p.Gly3244=) c.9744T>C (p.Gly3248=) c.9723T>C (p.Gly3241=) c.9378T>C (p.Gly3126=) c.5724T>C (p.Gly1908=) c.9618T>C (p.Gly3206=) c.9609T>C (p.Gly3203=) c.9624T>C (p.Gly3208=) c.3921T>C (p.Gly1307=) | |
| X | g.31204021A>T | CA515856901 | DMD | c.4593T>A (p.Gly1531=) c.543T>A (p.Gly181=) n.545T>A c.2367T>A (p.Gly789=) n.1264T>A n.846T>A n.1265T>A n.3239T>A c.1602T>A (p.Gly534=) c.9747T>A (p.Gly3249=) c.5715T>A (p.Gly1905=) c.420T>A (p.Gly140=) c.486T>A (p.Gly162=) n.677T>A c.1560T>A (p.Gly520=) c.2835T>A (p.Gly945=) c.9735T>A (p.Gly3245=) c.117T>A (p.Gly39=) c.9732T>A (p.Gly3244=) c.9744T>A (p.Gly3248=) c.9723T>A (p.Gly3241=) c.9378T>A (p.Gly3126=) c.5724T>A (p.Gly1908=) c.9618T>A (p.Gly3206=) c.9609T>A (p.Gly3203=) c.9624T>A (p.Gly3208=) c.3921T>A (p.Gly1307=) | |
| X | g.31204022C>A | CA412648509 | DMD | c.4592G>T (p.Gly1531Val) c.542G>T (p.Gly181Val) n.544G>T c.2366G>T (p.Gly789Val) n.1263G>T n.845G>T n.1264G>T n.3238G>T c.1601G>T (p.Gly534Val) c.9746G>T (p.Gly3249Val) c.5714G>T (p.Gly1905Val) c.419G>T (p.Gly140Val) c.485G>T (p.Gly162Val) n.676G>T c.1559G>T (p.Gly520Val) c.2834G>T (p.Gly945Val) c.9734G>T (p.Gly3245Val) c.116G>T (p.Gly39Val) c.9731G>T (p.Gly3244Val) c.9743G>T (p.Gly3248Val) c.9722G>T (p.Gly3241Val) c.9377G>T (p.Gly3126Val) c.5723G>T (p.Gly1908Val) c.9617G>T (p.Gly3206Val) c.9608G>T (p.Gly3203Val) c.9623G>T (p.Gly3208Val) c.3920G>T (p.Gly1307Val) | gnomAD v4 |
| X | g.31204022C>G | CA412648510 | DMD | c.4592G>C (p.Gly1531Ala) c.542G>C (p.Gly181Ala) n.544G>C c.2366G>C (p.Gly789Ala) n.1263G>C n.845G>C n.1264G>C n.3238G>C c.1601G>C (p.Gly534Ala) c.9746G>C (p.Gly3249Ala) c.5714G>C (p.Gly1905Ala) c.419G>C (p.Gly140Ala) c.485G>C (p.Gly162Ala) n.676G>C c.1559G>C (p.Gly520Ala) c.2834G>C (p.Gly945Ala) c.9734G>C (p.Gly3245Ala) c.116G>C (p.Gly39Ala) c.9731G>C (p.Gly3244Ala) c.9743G>C (p.Gly3248Ala) c.9722G>C (p.Gly3241Ala) c.9377G>C (p.Gly3126Ala) c.5723G>C (p.Gly1908Ala) c.9617G>C (p.Gly3206Ala) c.9608G>C (p.Gly3203Ala) c.9623G>C (p.Gly3208Ala) c.3920G>C (p.Gly1307Ala) | |
| X | g.31204022C>T | CA412648513 | DMD | c.4592G>A (p.Gly1531Asp) c.542G>A (p.Gly181Asp) n.544G>A c.2366G>A (p.Gly789Asp) n.1263G>A n.845G>A n.1264G>A n.3238G>A c.1601G>A (p.Gly534Asp) c.9746G>A (p.Gly3249Asp) c.5714G>A (p.Gly1905Asp) c.419G>A (p.Gly140Asp) c.485G>A (p.Gly162Asp) n.676G>A c.1559G>A (p.Gly520Asp) c.2834G>A (p.Gly945Asp) c.9734G>A (p.Gly3245Asp) c.116G>A (p.Gly39Asp) c.9731G>A (p.Gly3244Asp) c.9743G>A (p.Gly3248Asp) c.9722G>A (p.Gly3241Asp) c.9377G>A (p.Gly3126Asp) c.5723G>A (p.Gly1908Asp) c.9617G>A (p.Gly3206Asp) c.9608G>A (p.Gly3203Asp) c.9623G>A (p.Gly3208Asp) c.3920G>A (p.Gly1307Asp) | |
| X | g.31204023C>A | CA412648515 | DMD | c.4591G>T (p.Gly1531Cys) c.541G>T (p.Gly181Cys) n.543G>T c.2365G>T (p.Gly789Cys) n.1262G>T n.844G>T n.1263G>T n.3237G>T c.1600G>T (p.Gly534Cys) c.9745G>T (p.Gly3249Cys) c.5713G>T (p.Gly1905Cys) c.418G>T (p.Gly140Cys) c.484G>T (p.Gly162Cys) n.675G>T c.1558G>T (p.Gly520Cys) c.2833G>T (p.Gly945Cys) c.9733G>T (p.Gly3245Cys) c.115G>T (p.Gly39Cys) c.9730G>T (p.Gly3244Cys) c.9742G>T (p.Gly3248Cys) c.9721G>T (p.Gly3241Cys) c.9376G>T (p.Gly3126Cys) c.5722G>T (p.Gly1908Cys) c.9616G>T (p.Gly3206Cys) c.9607G>T (p.Gly3203Cys) c.9622G>T (p.Gly3208Cys) c.3919G>T (p.Gly1307Cys) | |
| X | g.31204023C>G | CA412648517 | DMD | c.4591G>C (p.Gly1531Arg) c.541G>C (p.Gly181Arg) n.543G>C c.2365G>C (p.Gly789Arg) n.1262G>C n.844G>C n.1263G>C n.3237G>C c.1600G>C (p.Gly534Arg) c.9745G>C (p.Gly3249Arg) c.5713G>C (p.Gly1905Arg) c.418G>C (p.Gly140Arg) c.484G>C (p.Gly162Arg) n.675G>C c.1558G>C (p.Gly520Arg) c.2833G>C (p.Gly945Arg) c.9733G>C (p.Gly3245Arg) c.115G>C (p.Gly39Arg) c.9730G>C (p.Gly3244Arg) c.9742G>C (p.Gly3248Arg) c.9721G>C (p.Gly3241Arg) c.9376G>C (p.Gly3126Arg) c.5722G>C (p.Gly1908Arg) c.9616G>C (p.Gly3206Arg) c.9607G>C (p.Gly3203Arg) c.9622G>C (p.Gly3208Arg) c.3919G>C (p.Gly1307Arg) | |
| X | g.31204023C>T | CA412648518 | DMD | c.4591G>A (p.Gly1531Ser) c.541G>A (p.Gly181Ser) n.543G>A c.2365G>A (p.Gly789Ser) n.1262G>A n.844G>A n.1263G>A n.3237G>A c.1600G>A (p.Gly534Ser) c.9745G>A (p.Gly3249Ser) c.5713G>A (p.Gly1905Ser) c.418G>A (p.Gly140Ser) c.484G>A (p.Gly162Ser) n.675G>A c.1558G>A (p.Gly520Ser) c.2833G>A (p.Gly945Ser) c.9733G>A (p.Gly3245Ser) c.115G>A (p.Gly39Ser) c.9730G>A (p.Gly3244Ser) c.9742G>A (p.Gly3248Ser) c.9721G>A (p.Gly3241Ser) c.9376G>A (p.Gly3126Ser) c.5722G>A (p.Gly1908Ser) c.9616G>A (p.Gly3206Ser) c.9607G>A (p.Gly3203Ser) c.9622G>A (p.Gly3208Ser) c.3919G>A (p.Gly1307Ser) | |
| X | g.31204024C>A | CA412648519 | DMD | c.4590G>T (p.Leu1530Phe) c.540G>T (p.Leu180Phe) n.542G>T c.2364G>T (p.Leu788Phe) n.1261G>T n.843G>T n.1262G>T n.3236G>T c.1599G>T (p.Leu533Phe) c.9744G>T (p.Leu3248Phe) c.5712G>T (p.Leu1904Phe) c.417G>T (p.Leu139Phe) c.483G>T (p.Leu161Phe) n.674G>T c.1557G>T (p.Leu519Phe) c.2832G>T (p.Leu944Phe) c.9732G>T (p.Leu3244Phe) c.114G>T (p.Leu38Phe) c.9729G>T (p.Leu3243Phe) c.9741G>T (p.Leu3247Phe) c.9720G>T (p.Leu3240Phe) c.9375G>T (p.Leu3125Phe) c.5721G>T (p.Leu1907Phe) c.9615G>T (p.Leu3205Phe) c.9606G>T (p.Leu3202Phe) c.9621G>T (p.Leu3207Phe) c.3918G>T (p.Leu1306Phe) | |
| X | g.31204024C>G | CA412648520 | DMD | c.4590G>C (p.Leu1530Phe) c.540G>C (p.Leu180Phe) n.542G>C c.2364G>C (p.Leu788Phe) n.1261G>C n.843G>C n.1262G>C n.3236G>C c.1599G>C (p.Leu533Phe) c.9744G>C (p.Leu3248Phe) c.5712G>C (p.Leu1904Phe) c.417G>C (p.Leu139Phe) c.483G>C (p.Leu161Phe) n.674G>C c.1557G>C (p.Leu519Phe) c.2832G>C (p.Leu944Phe) c.9732G>C (p.Leu3244Phe) c.114G>C (p.Leu38Phe) c.9729G>C (p.Leu3243Phe) c.9741G>C (p.Leu3247Phe) c.9720G>C (p.Leu3240Phe) c.9375G>C (p.Leu3125Phe) c.5721G>C (p.Leu1907Phe) c.9615G>C (p.Leu3205Phe) c.9606G>C (p.Leu3202Phe) c.9621G>C (p.Leu3207Phe) c.3918G>C (p.Leu1306Phe) | |
| X | g.31204024C>T | CA515856903 | DMD | c.4590G>A (p.Leu1530=) c.540G>A (p.Leu180=) n.542G>A c.2364G>A (p.Leu788=) n.1261G>A n.843G>A n.1262G>A n.3236G>A c.1599G>A (p.Leu533=) c.9744G>A (p.Leu3248=) c.5712G>A (p.Leu1904=) c.417G>A (p.Leu139=) c.483G>A (p.Leu161=) n.674G>A c.1557G>A (p.Leu519=) c.2832G>A (p.Leu944=) c.9732G>A (p.Leu3244=) c.114G>A (p.Leu38=) c.9729G>A (p.Leu3243=) c.9741G>A (p.Leu3247=) c.9720G>A (p.Leu3240=) c.9375G>A (p.Leu3125=) c.5721G>A (p.Leu1907=) c.9615G>A (p.Leu3205=) c.9606G>A (p.Leu3202=) c.9621G>A (p.Leu3207=) c.3918G>A (p.Leu1306=) | |
| X | g.31204024_31204032delinsCAACTGTCT | CA2422347567 | DMD | c.4582_4590delinsAGACAGTTG (p.Arg1528=) c.532_540delinsAGACAGTTG (p.Arg178=) n.534_542delinsAGACAGTTG c.2356_2364delinsAGACAGTTG (p.Arg786=) n.1253_1261delinsAGACAGTTG n.835_843delinsAGACAGTTG n.1254_1262delinsAGACAGTTG n.3228_3236delinsAGACAGTTG c.1591_1599delinsAGACAGTTG (p.Arg531=) c.9736_9744delinsAGACAGTTG (p.Arg3246=) c.5704_5712delinsAGACAGTTG (p.Arg1902=) c.409_417delinsAGACAGTTG (p.Arg137=) c.475_483delinsAGACAGTTG (p.Arg159=) n.666_674delinsAGACAGTTG c.1549_1557delinsAGACAGTTG (p.Arg517=) c.2824_2832delinsAGACAGTTG (p.Arg942=) c.9724_9732delinsAGACAGTTG (p.Arg3242=) c.106_114delinsAGACAGTTG (p.Arg36=) c.9721_9729delinsAGACAGTTG (p.Arg3241=) c.9733_9741delinsAGACAGTTG (p.Arg3245=) c.9712_9720delinsAGACAGTTG (p.Arg3238=) c.9367_9375delinsAGACAGTTG (p.Arg3123=) c.5713_5721delinsAGACAGTTG (p.Arg1905=) c.9607_9615delinsAGACAGTTG (p.Arg3203=) c.9598_9606delinsAGACAGTTG (p.Arg3200=) c.9613_9621delinsAGACAGTTG (p.Arg3205=) c.3910_3918delinsAGACAGTTG (p.Arg1304=) | |
| X | g.31204025A= | CA2422347568 | DMD | c.4589T= (p.Leu1530=) c.539T= (p.Leu180=) n.541T= c.2363T= (p.Leu788=) n.1260T= n.842T= n.1261T= n.3235T= c.1598T= (p.Leu533=) c.9743T= (p.Leu3248=) c.5711T= (p.Leu1904=) c.416T= (p.Leu139=) c.482T= (p.Leu161=) n.673T= c.1556T= (p.Leu519=) c.2831T= (p.Leu944=) c.9731T= (p.Leu3244=) c.113T= (p.Leu38=) c.9728T= (p.Leu3243=) c.9740T= (p.Leu3247=) c.9719T= (p.Leu3240=) c.9374T= (p.Leu3125=) c.5720T= (p.Leu1907=) c.9614T= (p.Leu3205=) c.9605T= (p.Leu3202=) c.9620T= (p.Leu3207=) c.3917T= (p.Leu1306=) | |
| X | g.31204025A>C | CA412648522 | DMD | c.4589T>G (p.Leu1530Trp) c.539T>G (p.Leu180Trp) n.541T>G c.2363T>G (p.Leu788Trp) n.1260T>G n.842T>G n.1261T>G n.3235T>G c.1598T>G (p.Leu533Trp) c.9743T>G (p.Leu3248Trp) c.5711T>G (p.Leu1904Trp) c.416T>G (p.Leu139Trp) c.482T>G (p.Leu161Trp) n.673T>G c.1556T>G (p.Leu519Trp) c.2831T>G (p.Leu944Trp) c.9731T>G (p.Leu3244Trp) c.113T>G (p.Leu38Trp) c.9728T>G (p.Leu3243Trp) c.9740T>G (p.Leu3247Trp) c.9719T>G (p.Leu3240Trp) c.9374T>G (p.Leu3125Trp) c.5720T>G (p.Leu1907Trp) c.9614T>G (p.Leu3205Trp) c.9605T>G (p.Leu3202Trp) c.9620T>G (p.Leu3207Trp) c.3917T>G (p.Leu1306Trp) | |
| X | g.31204025A>G | CA412648524 | DMD | c.4589T>C (p.Leu1530Ser) c.539T>C (p.Leu180Ser) n.541T>C c.2363T>C (p.Leu788Ser) n.1260T>C n.842T>C n.1261T>C n.3235T>C c.1598T>C (p.Leu533Ser) c.9743T>C (p.Leu3248Ser) c.5711T>C (p.Leu1904Ser) c.416T>C (p.Leu139Ser) c.482T>C (p.Leu161Ser) n.673T>C c.1556T>C (p.Leu519Ser) c.2831T>C (p.Leu944Ser) c.9731T>C (p.Leu3244Ser) c.113T>C (p.Leu38Ser) c.9728T>C (p.Leu3243Ser) c.9740T>C (p.Leu3247Ser) c.9719T>C (p.Leu3240Ser) c.9374T>C (p.Leu3125Ser) c.5720T>C (p.Leu1907Ser) c.9614T>C (p.Leu3205Ser) c.9605T>C (p.Leu3202Ser) c.9620T>C (p.Leu3207Ser) c.3917T>C (p.Leu1306Ser) | |
| X | g.31204025A>T | CA412648525 | DMD | c.4589T>A (p.Leu1530Ter) c.539T>A (p.Leu180Ter) n.541T>A c.2363T>A (p.Leu788Ter) n.1260T>A n.842T>A n.1261T>A n.3235T>A c.1598T>A (p.Leu533Ter) c.9743T>A (p.Leu3248Ter) c.5711T>A (p.Leu1904Ter) c.416T>A (p.Leu139Ter) c.482T>A (p.Leu161Ter) n.673T>A c.1556T>A (p.Leu519Ter) c.2831T>A (p.Leu944Ter) c.9731T>A (p.Leu3244Ter) c.113T>A (p.Leu38Ter) c.9728T>A (p.Leu3243Ter) c.9740T>A (p.Leu3247Ter) c.9719T>A (p.Leu3240Ter) c.9374T>A (p.Leu3125Ter) c.5720T>A (p.Leu1907Ter) c.9614T>A (p.Leu3205Ter) c.9605T>A (p.Leu3202Ter) c.9620T>A (p.Leu3207Ter) c.3917T>A (p.Leu1306Ter) | ClinVar dbSNP |
| X | g.31204025_31204032del | CA874607929 | DMD | c.4582_4589del (p.Arg1528GlyfsTer2) c.532_539del (p.Arg178GlyfsTer2) n.534_541del c.2356_2363del (p.Arg786GlyfsTer2) n.1253_1260del n.835_842del n.1254_1261del n.3228_3235del c.1591_1598del (p.Arg531GlyfsTer2) c.9736_9743del (p.Arg3246GlyfsTer2) c.5704_5711del (p.Arg1902GlyfsTer2) c.409_416del (p.Arg137GlyfsTer2) c.475_482del (p.Arg159GlyfsTer2) n.666_673del c.1549_1556del (p.Arg517GlyfsTer2) c.2824_2831del (p.Arg942GlyfsTer2) c.9724_9731del (p.Arg3242GlyfsTer2) c.106_113del (p.Arg36GlyfsTer2) c.9721_9728del (p.Arg3241GlyfsTer2) c.9733_9740del (p.Arg3245GlyfsTer2) c.9712_9719del (p.Arg3238GlyfsTer2) c.9367_9374del (p.Arg3123GlyfsTer2) c.5713_5720del (p.Arg1905GlyfsTer2) c.9607_9614del (p.Arg3203GlyfsTer2) c.9598_9605del (p.Arg3200GlyfsTer2) c.9613_9620del (p.Arg3205GlyfsTer2) c.3910_3917del (p.Arg1304GlyfsTer2) | dbSNP |
| X | g.31204026A= | CA2422347569 | DMD | c.4588T= (p.Leu1530=) c.538T= (p.Leu180=) n.540T= c.2362T= (p.Leu788=) n.1259T= n.841T= n.1260T= n.3234T= c.1597T= (p.Leu533=) c.9742T= (p.Leu3248=) c.5710T= (p.Leu1904=) c.415T= (p.Leu139=) c.481T= (p.Leu161=) n.672T= c.1555T= (p.Leu519=) c.2830T= (p.Leu944=) c.9730T= (p.Leu3244=) c.112T= (p.Leu38=) c.9727T= (p.Leu3243=) c.9739T= (p.Leu3247=) c.9718T= (p.Leu3240=) c.9373T= (p.Leu3125=) c.5719T= (p.Leu1907=) c.9613T= (p.Leu3205=) c.9604T= (p.Leu3202=) c.9619T= (p.Leu3207=) c.3916T= (p.Leu1306=) | |
| X | g.31204026A>C | CA412648528 | DMD | c.4588T>G (p.Leu1530Val) c.538T>G (p.Leu180Val) n.540T>G c.2362T>G (p.Leu788Val) n.1259T>G n.841T>G n.1260T>G n.3234T>G c.1597T>G (p.Leu533Val) c.9742T>G (p.Leu3248Val) c.5710T>G (p.Leu1904Val) c.415T>G (p.Leu139Val) c.481T>G (p.Leu161Val) n.672T>G c.1555T>G (p.Leu519Val) c.2830T>G (p.Leu944Val) c.9730T>G (p.Leu3244Val) c.112T>G (p.Leu38Val) c.9727T>G (p.Leu3243Val) c.9739T>G (p.Leu3247Val) c.9718T>G (p.Leu3240Val) c.9373T>G (p.Leu3125Val) c.5719T>G (p.Leu1907Val) c.9613T>G (p.Leu3205Val) c.9604T>G (p.Leu3202Val) c.9619T>G (p.Leu3207Val) c.3916T>G (p.Leu1306Val) | |
| X | g.31204026A>G | CA515856905 | DMD | c.4588T>C (p.Leu1530=) c.538T>C (p.Leu180=) n.540T>C c.2362T>C (p.Leu788=) n.1259T>C n.841T>C n.1260T>C n.3234T>C c.1597T>C (p.Leu533=) c.9742T>C (p.Leu3248=) c.5710T>C (p.Leu1904=) c.415T>C (p.Leu139=) c.481T>C (p.Leu161=) n.672T>C c.1555T>C (p.Leu519=) c.2830T>C (p.Leu944=) c.9730T>C (p.Leu3244=) c.112T>C (p.Leu38=) c.9727T>C (p.Leu3243=) c.9739T>C (p.Leu3247=) c.9718T>C (p.Leu3240=) c.9373T>C (p.Leu3125=) c.5719T>C (p.Leu1907=) c.9613T>C (p.Leu3205=) c.9604T>C (p.Leu3202=) c.9619T>C (p.Leu3207=) c.3916T>C (p.Leu1306=) | ClinVar dbSNP gnomAD v4 |
| X | g.31204026A>T | CA412648527 | DMD | c.4588T>A (p.Leu1530Met) c.538T>A (p.Leu180Met) n.540T>A c.2362T>A (p.Leu788Met) n.1259T>A n.841T>A n.1260T>A n.3234T>A c.1597T>A (p.Leu533Met) c.9742T>A (p.Leu3248Met) c.5710T>A (p.Leu1904Met) c.415T>A (p.Leu139Met) c.481T>A (p.Leu161Met) n.672T>A c.1555T>A (p.Leu519Met) c.2830T>A (p.Leu944Met) c.9730T>A (p.Leu3244Met) c.112T>A (p.Leu38Met) c.9727T>A (p.Leu3243Met) c.9739T>A (p.Leu3247Met) c.9718T>A (p.Leu3240Met) c.9373T>A (p.Leu3125Met) c.5719T>A (p.Leu1907Met) c.9613T>A (p.Leu3205Met) c.9604T>A (p.Leu3202Met) c.9619T>A (p.Leu3207Met) c.3916T>A (p.Leu1306Met) | |
| X | g.31204027C>A | CA10377750 | DMD | c.4587G>T (p.Gln1529His) c.537G>T (p.Gln179His) n.539G>T c.2361G>T (p.Gln787His) n.1258G>T n.840G>T n.1259G>T n.3233G>T c.1596G>T (p.Gln532His) c.9741G>T (p.Gln3247His) c.5709G>T (p.Gln1903His) c.414G>T (p.Gln138His) c.480G>T (p.Gln160His) n.671G>T c.1554G>T (p.Gln518His) c.2829G>T (p.Gln943His) c.9729G>T (p.Gln3243His) c.111G>T (p.Gln37His) c.9726G>T (p.Gln3242His) c.9738G>T (p.Gln3246His) c.9717G>T (p.Gln3239His) c.9372G>T (p.Gln3124His) c.5718G>T (p.Gln1906His) c.9612G>T (p.Gln3204His) c.9603G>T (p.Gln3201His) c.9618G>T (p.Gln3206His) c.3915G>T (p.Gln1305His) | dbSNP ExAC gnomAD v4 |
| X | g.31204027C= | CA2422347570 | DMD | c.4587G= (p.Gln1529=) c.537G= (p.Gln179=) n.539G= c.2361G= (p.Gln787=) n.1258G= n.840G= n.1259G= n.3233G= c.1596G= (p.Gln532=) c.9741G= (p.Gln3247=) c.5709G= (p.Gln1903=) c.414G= (p.Gln138=) c.480G= (p.Gln160=) n.671G= c.1554G= (p.Gln518=) c.2829G= (p.Gln943=) c.9729G= (p.Gln3243=) c.111G= (p.Gln37=) c.9726G= (p.Gln3242=) c.9738G= (p.Gln3246=) c.9717G= (p.Gln3239=) c.9372G= (p.Gln3124=) c.5718G= (p.Gln1906=) c.9612G= (p.Gln3204=) c.9603G= (p.Gln3201=) c.9618G= (p.Gln3206=) c.3915G= (p.Gln1305=) | |
| X | g.31204027C>G | CA412648531 | DMD | c.4587G>C (p.Gln1529His) c.537G>C (p.Gln179His) n.539G>C c.2361G>C (p.Gln787His) n.1258G>C n.840G>C n.1259G>C n.3233G>C c.1596G>C (p.Gln532His) c.9741G>C (p.Gln3247His) c.5709G>C (p.Gln1903His) c.414G>C (p.Gln138His) c.480G>C (p.Gln160His) n.671G>C c.1554G>C (p.Gln518His) c.2829G>C (p.Gln943His) c.9729G>C (p.Gln3243His) c.111G>C (p.Gln37His) c.9726G>C (p.Gln3242His) c.9738G>C (p.Gln3246His) c.9717G>C (p.Gln3239His) c.9372G>C (p.Gln3124His) c.5718G>C (p.Gln1906His) c.9612G>C (p.Gln3204His) c.9603G>C (p.Gln3201His) c.9618G>C (p.Gln3206His) c.3915G>C (p.Gln1305His) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31204027C>T | CA515856906 | DMD | c.4587G>A (p.Gln1529=) c.537G>A (p.Gln179=) n.539G>A c.2361G>A (p.Gln787=) n.1258G>A n.840G>A n.1259G>A n.3233G>A c.1596G>A (p.Gln532=) c.9741G>A (p.Gln3247=) c.5709G>A (p.Gln1903=) c.414G>A (p.Gln138=) c.480G>A (p.Gln160=) n.671G>A c.1554G>A (p.Gln518=) c.2829G>A (p.Gln943=) c.9729G>A (p.Gln3243=) c.111G>A (p.Gln37=) c.9726G>A (p.Gln3242=) c.9738G>A (p.Gln3246=) c.9717G>A (p.Gln3239=) c.9372G>A (p.Gln3124=) c.5718G>A (p.Gln1906=) c.9612G>A (p.Gln3204=) c.9603G>A (p.Gln3201=) c.9618G>A (p.Gln3206=) c.3915G>A (p.Gln1305=) | |
| X | g.31204028T>A | CA412648533 | DMD | c.4586A>T (p.Gln1529Leu) c.536A>T (p.Gln179Leu) n.538A>T c.2360A>T (p.Gln787Leu) n.1257A>T n.839A>T n.1258A>T n.3232A>T c.1595A>T (p.Gln532Leu) c.9740A>T (p.Gln3247Leu) c.5708A>T (p.Gln1903Leu) c.413A>T (p.Gln138Leu) c.479A>T (p.Gln160Leu) n.670A>T c.1553A>T (p.Gln518Leu) c.2828A>T (p.Gln943Leu) c.9728A>T (p.Gln3243Leu) c.110A>T (p.Gln37Leu) c.9725A>T (p.Gln3242Leu) c.9737A>T (p.Gln3246Leu) c.9716A>T (p.Gln3239Leu) c.9371A>T (p.Gln3124Leu) c.5717A>T (p.Gln1906Leu) c.9611A>T (p.Gln3204Leu) c.9602A>T (p.Gln3201Leu) c.9617A>T (p.Gln3206Leu) c.3914A>T (p.Gln1305Leu) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31204028T>C | CA412648535 | DMD | c.4586A>G (p.Gln1529Arg) c.536A>G (p.Gln179Arg) n.538A>G c.2360A>G (p.Gln787Arg) n.1257A>G n.839A>G n.1258A>G n.3232A>G c.1595A>G (p.Gln532Arg) c.9740A>G (p.Gln3247Arg) c.5708A>G (p.Gln1903Arg) c.413A>G (p.Gln138Arg) c.479A>G (p.Gln160Arg) n.670A>G c.1553A>G (p.Gln518Arg) c.2828A>G (p.Gln943Arg) c.9728A>G (p.Gln3243Arg) c.110A>G (p.Gln37Arg) c.9725A>G (p.Gln3242Arg) c.9737A>G (p.Gln3246Arg) c.9716A>G (p.Gln3239Arg) c.9371A>G (p.Gln3124Arg) c.5717A>G (p.Gln1906Arg) c.9611A>G (p.Gln3204Arg) c.9602A>G (p.Gln3201Arg) c.9617A>G (p.Gln3206Arg) c.3914A>G (p.Gln1305Arg) | ClinVar |
| X | g.31204028T>G | CA412648537 | DMD | c.4586A>C (p.Gln1529Pro) c.536A>C (p.Gln179Pro) n.538A>C c.2360A>C (p.Gln787Pro) n.1257A>C n.839A>C n.1258A>C n.3232A>C c.1595A>C (p.Gln532Pro) c.9740A>C (p.Gln3247Pro) c.5708A>C (p.Gln1903Pro) c.413A>C (p.Gln138Pro) c.479A>C (p.Gln160Pro) n.670A>C c.1553A>C (p.Gln518Pro) c.2828A>C (p.Gln943Pro) c.9728A>C (p.Gln3243Pro) c.110A>C (p.Gln37Pro) c.9725A>C (p.Gln3242Pro) c.9737A>C (p.Gln3246Pro) c.9716A>C (p.Gln3239Pro) c.9371A>C (p.Gln3124Pro) c.5717A>C (p.Gln1906Pro) c.9611A>C (p.Gln3204Pro) c.9602A>C (p.Gln3201Pro) c.9617A>C (p.Gln3206Pro) c.3914A>C (p.Gln1305Pro) | |
| X | g.31204029G>A | CA412648538 | DMD | c.4585C>T (p.Gln1529Ter) c.535C>T (p.Gln179Ter) n.537C>T c.2359C>T (p.Gln787Ter) n.1256C>T n.838C>T n.1257C>T n.3231C>T c.1594C>T (p.Gln532Ter) c.9739C>T (p.Gln3247Ter) c.5707C>T (p.Gln1903Ter) c.412C>T (p.Gln138Ter) c.478C>T (p.Gln160Ter) n.669C>T c.1552C>T (p.Gln518Ter) c.2827C>T (p.Gln943Ter) c.9727C>T (p.Gln3243Ter) c.109C>T (p.Gln37Ter) c.9724C>T (p.Gln3242Ter) c.9736C>T (p.Gln3246Ter) c.9715C>T (p.Gln3239Ter) c.9370C>T (p.Gln3124Ter) c.5716C>T (p.Gln1906Ter) c.9610C>T (p.Gln3204Ter) c.9601C>T (p.Gln3201Ter) c.9616C>T (p.Gln3206Ter) c.3913C>T (p.Gln1305Ter) | ClinVar dbSNP |
| X | g.31204029G>C | CA412648540 | DMD | c.4585C>G (p.Gln1529Glu) c.535C>G (p.Gln179Glu) n.537C>G c.2359C>G (p.Gln787Glu) n.1256C>G n.838C>G n.1257C>G n.3231C>G c.1594C>G (p.Gln532Glu) c.9739C>G (p.Gln3247Glu) c.5707C>G (p.Gln1903Glu) c.412C>G (p.Gln138Glu) c.478C>G (p.Gln160Glu) n.669C>G c.1552C>G (p.Gln518Glu) c.2827C>G (p.Gln943Glu) c.9727C>G (p.Gln3243Glu) c.109C>G (p.Gln37Glu) c.9724C>G (p.Gln3242Glu) c.9736C>G (p.Gln3246Glu) c.9715C>G (p.Gln3239Glu) c.9370C>G (p.Gln3124Glu) c.5716C>G (p.Gln1906Glu) c.9610C>G (p.Gln3204Glu) c.9601C>G (p.Gln3201Glu) c.9616C>G (p.Gln3206Glu) c.3913C>G (p.Gln1305Glu) | |
| X | g.31204029G>T | CA412648541 | DMD | c.4585C>A (p.Gln1529Lys) c.535C>A (p.Gln179Lys) n.537C>A c.2359C>A (p.Gln787Lys) n.1256C>A n.838C>A n.1257C>A n.3231C>A c.1594C>A (p.Gln532Lys) c.9739C>A (p.Gln3247Lys) c.5707C>A (p.Gln1903Lys) c.412C>A (p.Gln138Lys) c.478C>A (p.Gln160Lys) n.669C>A c.1552C>A (p.Gln518Lys) c.2827C>A (p.Gln943Lys) c.9727C>A (p.Gln3243Lys) c.109C>A (p.Gln37Lys) c.9724C>A (p.Gln3242Lys) c.9736C>A (p.Gln3246Lys) c.9715C>A (p.Gln3239Lys) c.9370C>A (p.Gln3124Lys) c.5716C>A (p.Gln1906Lys) c.9610C>A (p.Gln3204Lys) c.9601C>A (p.Gln3201Lys) c.9616C>A (p.Gln3206Lys) c.3913C>A (p.Gln1305Lys) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31204030T>A | CA412648543 | DMD | c.4584A>T (p.Arg1528Ser) c.534A>T (p.Arg178Ser) n.536A>T c.2358A>T (p.Arg786Ser) n.1255A>T n.837A>T n.1256A>T n.3230A>T c.1593A>T (p.Arg531Ser) c.9738A>T (p.Arg3246Ser) c.5706A>T (p.Arg1902Ser) c.411A>T (p.Arg137Ser) c.477A>T (p.Arg159Ser) n.668A>T c.1551A>T (p.Arg517Ser) c.2826A>T (p.Arg942Ser) c.9726A>T (p.Arg3242Ser) c.108A>T (p.Arg36Ser) c.9723A>T (p.Arg3241Ser) c.9735A>T (p.Arg3245Ser) c.9714A>T (p.Arg3238Ser) c.9369A>T (p.Arg3123Ser) c.5715A>T (p.Arg1905Ser) c.9609A>T (p.Arg3203Ser) c.9600A>T (p.Arg3200Ser) c.9615A>T (p.Arg3205Ser) c.3912A>T (p.Arg1304Ser) | |
| X | g.31204030T>C | CA515856908 | DMD | c.4584A>G (p.Arg1528=) c.534A>G (p.Arg178=) n.536A>G c.2358A>G (p.Arg786=) n.1255A>G n.837A>G n.1256A>G n.3230A>G c.1593A>G (p.Arg531=) c.9738A>G (p.Arg3246=) c.5706A>G (p.Arg1902=) c.411A>G (p.Arg137=) c.477A>G (p.Arg159=) n.668A>G c.1551A>G (p.Arg517=) c.2826A>G (p.Arg942=) c.9726A>G (p.Arg3242=) c.108A>G (p.Arg36=) c.9723A>G (p.Arg3241=) c.9735A>G (p.Arg3245=) c.9714A>G (p.Arg3238=) c.9369A>G (p.Arg3123=) c.5715A>G (p.Arg1905=) c.9609A>G (p.Arg3203=) c.9600A>G (p.Arg3200=) c.9615A>G (p.Arg3205=) c.3912A>G (p.Arg1304=) | |
| X | g.31204030T>G | CA412648545 | DMD | c.4584A>C (p.Arg1528Ser) c.534A>C (p.Arg178Ser) n.536A>C c.2358A>C (p.Arg786Ser) n.1255A>C n.837A>C n.1256A>C n.3230A>C c.1593A>C (p.Arg531Ser) c.9738A>C (p.Arg3246Ser) c.5706A>C (p.Arg1902Ser) c.411A>C (p.Arg137Ser) c.477A>C (p.Arg159Ser) n.668A>C c.1551A>C (p.Arg517Ser) c.2826A>C (p.Arg942Ser) c.9726A>C (p.Arg3242Ser) c.108A>C (p.Arg36Ser) c.9723A>C (p.Arg3241Ser) c.9735A>C (p.Arg3245Ser) c.9714A>C (p.Arg3238Ser) c.9369A>C (p.Arg3123Ser) c.5715A>C (p.Arg1905Ser) c.9609A>C (p.Arg3203Ser) c.9600A>C (p.Arg3200Ser) c.9615A>C (p.Arg3205Ser) c.3912A>C (p.Arg1304Ser) | |
| X | g.31204031C>A | CA412648546 | DMD | c.4583G>T (p.Arg1528Ile) c.533G>T (p.Arg178Ile) n.535G>T c.2357G>T (p.Arg786Ile) n.1254G>T n.836G>T n.1255G>T n.3229G>T c.1592G>T (p.Arg531Ile) c.9737G>T (p.Arg3246Ile) c.5705G>T (p.Arg1902Ile) c.410G>T (p.Arg137Ile) c.476G>T (p.Arg159Ile) n.667G>T c.1550G>T (p.Arg517Ile) c.2825G>T (p.Arg942Ile) c.9725G>T (p.Arg3242Ile) c.107G>T (p.Arg36Ile) c.9722G>T (p.Arg3241Ile) c.9734G>T (p.Arg3245Ile) c.9713G>T (p.Arg3238Ile) c.9368G>T (p.Arg3123Ile) c.5714G>T (p.Arg1905Ile) c.9608G>T (p.Arg3203Ile) c.9599G>T (p.Arg3200Ile) c.9614G>T (p.Arg3205Ile) c.3911G>T (p.Arg1304Ile) | |
| X | g.31204031C>G | CA412648548 | DMD | c.4583G>C (p.Arg1528Thr) c.533G>C (p.Arg178Thr) n.535G>C c.2357G>C (p.Arg786Thr) n.1254G>C n.836G>C n.1255G>C n.3229G>C c.1592G>C (p.Arg531Thr) c.9737G>C (p.Arg3246Thr) c.5705G>C (p.Arg1902Thr) c.410G>C (p.Arg137Thr) c.476G>C (p.Arg159Thr) n.667G>C c.1550G>C (p.Arg517Thr) c.2825G>C (p.Arg942Thr) c.9725G>C (p.Arg3242Thr) c.107G>C (p.Arg36Thr) c.9722G>C (p.Arg3241Thr) c.9734G>C (p.Arg3245Thr) c.9713G>C (p.Arg3238Thr) c.9368G>C (p.Arg3123Thr) c.5714G>C (p.Arg1905Thr) c.9608G>C (p.Arg3203Thr) c.9599G>C (p.Arg3200Thr) c.9614G>C (p.Arg3205Thr) c.3911G>C (p.Arg1304Thr) | |
| X | g.31204031C>T | CA412648550 | DMD | c.4583G>A (p.Arg1528Lys) c.533G>A (p.Arg178Lys) n.535G>A c.2357G>A (p.Arg786Lys) n.1254G>A n.836G>A n.1255G>A n.3229G>A c.1592G>A (p.Arg531Lys) c.9737G>A (p.Arg3246Lys) c.5705G>A (p.Arg1902Lys) c.410G>A (p.Arg137Lys) c.476G>A (p.Arg159Lys) n.667G>A c.1550G>A (p.Arg517Lys) c.2825G>A (p.Arg942Lys) c.9725G>A (p.Arg3242Lys) c.107G>A (p.Arg36Lys) c.9722G>A (p.Arg3241Lys) c.9734G>A (p.Arg3245Lys) c.9713G>A (p.Arg3238Lys) c.9368G>A (p.Arg3123Lys) c.5714G>A (p.Arg1905Lys) c.9608G>A (p.Arg3203Lys) c.9599G>A (p.Arg3200Lys) c.9614G>A (p.Arg3205Lys) c.3911G>A (p.Arg1304Lys) | dbSNP |
| X | g.31204032T>A | CA412648552 | DMD | c.4582A>T (p.Arg1528Ter) c.532A>T (p.Arg178Ter) n.534A>T c.2356A>T (p.Arg786Ter) n.1253A>T n.835A>T n.1254A>T n.3228A>T c.1591A>T (p.Arg531Ter) c.9736A>T (p.Arg3246Ter) c.5704A>T (p.Arg1902Ter) c.409A>T (p.Arg137Ter) c.475A>T (p.Arg159Ter) n.666A>T c.1549A>T (p.Arg517Ter) c.2824A>T (p.Arg942Ter) c.9724A>T (p.Arg3242Ter) c.106A>T (p.Arg36Ter) c.9721A>T (p.Arg3241Ter) c.9733A>T (p.Arg3245Ter) c.9712A>T (p.Arg3238Ter) c.9367A>T (p.Arg3123Ter) c.5713A>T (p.Arg1905Ter) c.9607A>T (p.Arg3203Ter) c.9598A>T (p.Arg3200Ter) c.9613A>T (p.Arg3205Ter) c.3910A>T (p.Arg1304Ter) |