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.31178784G>A | CA273073 | DMD | c.4954C>T (p.Arg1652Ter) n.2455C>T c.904C>T (p.Arg302Ter) n.906C>T c.2728C>T (p.Arg910Ter) n.739C>T n.1625C>T n.1207C>T n.1626C>T n.3600C>T c.1963C>T (p.Arg655Ter) c.10108C>T (p.Arg3370Ter) n.474C>T c.6076C>T (p.Arg2026Ter) c.*110C>T (n.*110C>T) c.65C>T c.781C>T (p.Arg261Ter) c.603+25177C>T (n.603+25177C>T) c.847C>T (p.Arg283Ter) n.1038C>T c.1921C>T (p.Arg641Ter) c.3196C>T (p.Arg1066Ter) c.10096C>T (p.Arg3366Ter) c.478C>T (p.Arg160Ter) n.324C>T c.10093C>T (p.Arg3365Ter) c.10105C>T (p.Arg3369Ter) c.10084C>T (p.Arg3362Ter) c.9739C>T (p.Arg3247Ter) c.6085C>T (p.Arg2029Ter) c.9979C>T (p.Arg3327Ter) c.9970C>T (p.Arg3324Ter) c.9985C>T (p.Arg3329Ter) c.4282C>T (p.Arg1428Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31178784G>C | CA412652924 | DMD | c.4954C>G (p.Arg1652Gly) n.2455C>G c.904C>G (p.Arg302Gly) n.906C>G c.2728C>G (p.Arg910Gly) n.739C>G n.1625C>G n.1207C>G n.1626C>G n.3600C>G c.1963C>G (p.Arg655Gly) c.10108C>G (p.Arg3370Gly) n.474C>G c.6076C>G (p.Arg2026Gly) c.*110C>G (n.*110C>G) c.65C>G c.781C>G (p.Arg261Gly) c.603+25177C>G (n.603+25177C>G) c.847C>G (p.Arg283Gly) n.1038C>G c.1921C>G (p.Arg641Gly) c.3196C>G (p.Arg1066Gly) c.10096C>G (p.Arg3366Gly) c.478C>G (p.Arg160Gly) n.324C>G c.10093C>G (p.Arg3365Gly) c.10105C>G (p.Arg3369Gly) c.10084C>G (p.Arg3362Gly) c.9739C>G (p.Arg3247Gly) c.6085C>G (p.Arg2029Gly) c.9979C>G (p.Arg3327Gly) c.9970C>G (p.Arg3324Gly) c.9985C>G (p.Arg3329Gly) c.4282C>G (p.Arg1428Gly) | |
| X | g.31178784G= | CA2422337945 | DMD | c.4954C= (p.Arg1652=) n.2455C= c.904C= (p.Arg302=) n.906C= c.2728C= (p.Arg910=) n.739C= n.1625C= n.1207C= n.1626C= n.3600C= c.1963C= (p.Arg655=) c.10108C= (p.Arg3370=) n.474C= c.6076C= (p.Arg2026=) c.*110C= (n.*110C=) c.65C= c.781C= (p.Arg261=) c.603+25177C= (n.603+25177C=) c.847C= (p.Arg283=) n.1038C= c.1921C= (p.Arg641=) c.3196C= (p.Arg1066=) c.10096C= (p.Arg3366=) c.478C= (p.Arg160=) n.324C= c.10093C= (p.Arg3365=) c.10105C= (p.Arg3369=) c.10084C= (p.Arg3362=) c.9739C= (p.Arg3247=) c.6085C= (p.Arg2029=) c.9979C= (p.Arg3327=) c.9970C= (p.Arg3324=) c.9985C= (p.Arg3329=) c.4282C= (p.Arg1428=) | |
| X | g.31178784G>T | CA515857834 | DMD | c.4954C>A (p.Arg1652=) n.2455C>A c.904C>A (p.Arg302=) n.906C>A c.2728C>A (p.Arg910=) n.739C>A n.1625C>A n.1207C>A n.1626C>A n.3600C>A c.1963C>A (p.Arg655=) c.10108C>A (p.Arg3370=) n.474C>A c.6076C>A (p.Arg2026=) c.*110C>A (n.*110C>A) c.65C>A c.781C>A (p.Arg261=) c.603+25177C>A (n.603+25177C>A) c.847C>A (p.Arg283=) n.1038C>A c.1921C>A (p.Arg641=) c.3196C>A (p.Arg1066=) c.10096C>A (p.Arg3366=) c.478C>A (p.Arg160=) n.324C>A c.10093C>A (p.Arg3365=) c.10105C>A (p.Arg3369=) c.10084C>A (p.Arg3362=) c.9739C>A (p.Arg3247=) c.6085C>A (p.Arg2029=) c.9979C>A (p.Arg3327=) c.9970C>A (p.Arg3324=) c.9985C>A (p.Arg3329=) c.4282C>A (p.Arg1428=) | |
| X | g.31178785A>C | CA515857835 | DMD | c.4953T>G (p.Val1651=) n.2454T>G c.903T>G (p.Val301=) n.905T>G c.2727T>G (p.Val909=) n.738T>G n.1624T>G n.1206T>G n.1625T>G n.3599T>G c.1962T>G (p.Val654=) c.10107T>G (p.Val3369=) n.473T>G c.6075T>G (p.Val2025=) c.*109T>G (n.*109T>G) c.64T>G c.780T>G (p.Val260=) c.603+25176T>G (n.603+25176T>G) c.846T>G (p.Val282=) n.1037T>G c.1920T>G (p.Val640=) c.3195T>G (p.Val1065=) c.10095T>G (p.Val3365=) c.477T>G (p.Val159=) n.323T>G c.10092T>G (p.Val3364=) c.10104T>G (p.Val3368=) c.10083T>G (p.Val3361=) c.9738T>G (p.Val3246=) c.6084T>G (p.Val2028=) c.9978T>G (p.Val3326=) c.9969T>G (p.Val3323=) c.9984T>G (p.Val3328=) c.4281T>G (p.Val1427=) | |
| X | g.31178785A>G | CA515857836 | DMD | c.4953T>C (p.Val1651=) n.2454T>C c.903T>C (p.Val301=) n.905T>C c.2727T>C (p.Val909=) n.738T>C n.1624T>C n.1206T>C n.1625T>C n.3599T>C c.1962T>C (p.Val654=) c.10107T>C (p.Val3369=) n.473T>C c.6075T>C (p.Val2025=) c.*109T>C (n.*109T>C) c.64T>C c.780T>C (p.Val260=) c.603+25176T>C (n.603+25176T>C) c.846T>C (p.Val282=) n.1037T>C c.1920T>C (p.Val640=) c.3195T>C (p.Val1065=) c.10095T>C (p.Val3365=) c.477T>C (p.Val159=) n.323T>C c.10092T>C (p.Val3364=) c.10104T>C (p.Val3368=) c.10083T>C (p.Val3361=) c.9738T>C (p.Val3246=) c.6084T>C (p.Val2028=) c.9978T>C (p.Val3326=) c.9969T>C (p.Val3323=) c.9984T>C (p.Val3328=) c.4281T>C (p.Val1427=) | |
| X | g.31178785A>T | CA515857837 | DMD | c.4953T>A (p.Val1651=) n.2454T>A c.903T>A (p.Val301=) n.905T>A c.2727T>A (p.Val909=) n.738T>A n.1624T>A n.1206T>A n.1625T>A n.3599T>A c.1962T>A (p.Val654=) c.10107T>A (p.Val3369=) n.473T>A c.6075T>A (p.Val2025=) c.*109T>A (n.*109T>A) c.64T>A c.780T>A (p.Val260=) c.603+25176T>A (n.603+25176T>A) c.846T>A (p.Val282=) n.1037T>A c.1920T>A (p.Val640=) c.3195T>A (p.Val1065=) c.10095T>A (p.Val3365=) c.477T>A (p.Val159=) n.323T>A c.10092T>A (p.Val3364=) c.10104T>A (p.Val3368=) c.10083T>A (p.Val3361=) c.9738T>A (p.Val3246=) c.6084T>A (p.Val2028=) c.9978T>A (p.Val3326=) c.9969T>A (p.Val3323=) c.9984T>A (p.Val3328=) c.4281T>A (p.Val1427=) | |
| X | g.31178786A>C | CA412652927 | DMD | c.4952T>G (p.Val1651Gly) n.2453T>G c.902T>G (p.Val301Gly) n.904T>G c.2726T>G (p.Val909Gly) n.737T>G n.1623T>G n.1205T>G n.1624T>G n.3598T>G c.1961T>G (p.Val654Gly) c.10106T>G (p.Val3369Gly) n.472T>G c.6074T>G (p.Val2025Gly) c.*108T>G (n.*108T>G) c.63T>G c.779T>G (p.Val260Gly) c.603+25175T>G (n.603+25175T>G) c.845T>G (p.Val282Gly) n.1036T>G c.1919T>G (p.Val640Gly) c.3194T>G (p.Val1065Gly) c.10094T>G (p.Val3365Gly) c.476T>G (p.Val159Gly) n.322T>G c.10091T>G (p.Val3364Gly) c.10103T>G (p.Val3368Gly) c.10082T>G (p.Val3361Gly) c.9737T>G (p.Val3246Gly) c.6083T>G (p.Val2028Gly) c.9977T>G (p.Val3326Gly) c.9968T>G (p.Val3323Gly) c.9983T>G (p.Val3328Gly) c.4280T>G (p.Val1427Gly) | |
| X | g.31178786A>G | CA412652925 | DMD | c.4952T>C (p.Val1651Ala) n.2453T>C c.902T>C (p.Val301Ala) n.904T>C c.2726T>C (p.Val909Ala) n.737T>C n.1623T>C n.1205T>C n.1624T>C n.3598T>C c.1961T>C (p.Val654Ala) c.10106T>C (p.Val3369Ala) n.472T>C c.6074T>C (p.Val2025Ala) c.*108T>C (n.*108T>C) c.63T>C c.779T>C (p.Val260Ala) c.603+25175T>C (n.603+25175T>C) c.845T>C (p.Val282Ala) n.1036T>C c.1919T>C (p.Val640Ala) c.3194T>C (p.Val1065Ala) c.10094T>C (p.Val3365Ala) c.476T>C (p.Val159Ala) n.322T>C c.10091T>C (p.Val3364Ala) c.10103T>C (p.Val3368Ala) c.10082T>C (p.Val3361Ala) c.9737T>C (p.Val3246Ala) c.6083T>C (p.Val2028Ala) c.9977T>C (p.Val3326Ala) c.9968T>C (p.Val3323Ala) c.9983T>C (p.Val3328Ala) c.4280T>C (p.Val1427Ala) | |
| X | g.31178786A>T | CA412652926 | DMD | c.4952T>A (p.Val1651Asp) n.2453T>A c.902T>A (p.Val301Asp) n.904T>A c.2726T>A (p.Val909Asp) n.737T>A n.1623T>A n.1205T>A n.1624T>A n.3598T>A c.1961T>A (p.Val654Asp) c.10106T>A (p.Val3369Asp) n.472T>A c.6074T>A (p.Val2025Asp) c.*108T>A (n.*108T>A) c.63T>A c.779T>A (p.Val260Asp) c.603+25175T>A (n.603+25175T>A) c.845T>A (p.Val282Asp) n.1036T>A c.1919T>A (p.Val640Asp) c.3194T>A (p.Val1065Asp) c.10094T>A (p.Val3365Asp) c.476T>A (p.Val159Asp) n.322T>A c.10091T>A (p.Val3364Asp) c.10103T>A (p.Val3368Asp) c.10082T>A (p.Val3361Asp) c.9737T>A (p.Val3246Asp) c.6083T>A (p.Val2028Asp) c.9977T>A (p.Val3326Asp) c.9968T>A (p.Val3323Asp) c.9983T>A (p.Val3328Asp) c.4280T>A (p.Val1427Asp) | |
| X | g.31178787del | CA2695231776 | DMD | c.4951del (p.Val1651PhefsTer8) n.2452del c.901del (p.Val301PhefsTer8) n.903del c.2725del (p.Val909PhefsTer8) n.736del n.1622del n.1204del n.1623del n.3597del c.1960del (p.Val654PhefsTer8) c.10105del (p.Val3369PhefsTer8) n.471del c.6073del (p.Val2025PhefsTer8) c.*107del (n.*107del) c.62del c.778del (p.Val260PhefsTer8) c.603+25174del (n.603+25174del) c.844del (p.Val282PhefsTer8) n.1035del c.1918del (p.Val640PhefsTer8) c.3193del (p.Val1065PhefsTer8) c.10093del (p.Val3365PhefsTer8) c.475del (p.Val159PhefsTer8) n.321del c.10090del (p.Val3364PhefsTer8) c.10102del (p.Val3368PhefsTer8) c.10081del (p.Val3361PhefsTer8) c.9736del (p.Val3246PhefsTer8) c.6082del (p.Val2028PhefsTer8) c.9976del (p.Val3326PhefsTer8) c.9967del (p.Val3323PhefsTer8) c.9982del (p.Val3328PhefsTer8) c.4279del (p.Val1427PhefsTer8) | |
| X | g.31178787C>A | CA412652928 | DMD | c.4951G>T (p.Val1651Phe) n.2452G>T c.901G>T (p.Val301Phe) n.903G>T c.2725G>T (p.Val909Phe) n.736G>T n.1622G>T n.1204G>T n.1623G>T n.3597G>T c.1960G>T (p.Val654Phe) c.10105G>T (p.Val3369Phe) n.471G>T c.6073G>T (p.Val2025Phe) c.*107G>T (n.*107G>T) c.62G>T c.778G>T (p.Val260Phe) c.603+25174G>T (n.603+25174G>T) c.844G>T (p.Val282Phe) n.1035G>T c.1918G>T (p.Val640Phe) c.3193G>T (p.Val1065Phe) c.10093G>T (p.Val3365Phe) c.475G>T (p.Val159Phe) n.321G>T c.10090G>T (p.Val3364Phe) c.10102G>T (p.Val3368Phe) c.10081G>T (p.Val3361Phe) c.9736G>T (p.Val3246Phe) c.6082G>T (p.Val2028Phe) c.9976G>T (p.Val3326Phe) c.9967G>T (p.Val3323Phe) c.9982G>T (p.Val3328Phe) c.4279G>T (p.Val1427Phe) | |
| X | g.31178787C>G | CA412652929 | DMD | c.4951G>C (p.Val1651Leu) n.2452G>C c.901G>C (p.Val301Leu) n.903G>C c.2725G>C (p.Val909Leu) n.736G>C n.1622G>C n.1204G>C n.1623G>C n.3597G>C c.1960G>C (p.Val654Leu) c.10105G>C (p.Val3369Leu) n.471G>C c.6073G>C (p.Val2025Leu) c.*107G>C (n.*107G>C) c.62G>C c.778G>C (p.Val260Leu) c.603+25174G>C (n.603+25174G>C) c.844G>C (p.Val282Leu) n.1035G>C c.1918G>C (p.Val640Leu) c.3193G>C (p.Val1065Leu) c.10093G>C (p.Val3365Leu) c.475G>C (p.Val159Leu) n.321G>C c.10090G>C (p.Val3364Leu) c.10102G>C (p.Val3368Leu) c.10081G>C (p.Val3361Leu) c.9736G>C (p.Val3246Leu) c.6082G>C (p.Val2028Leu) c.9976G>C (p.Val3326Leu) c.9967G>C (p.Val3323Leu) c.9982G>C (p.Val3328Leu) c.4279G>C (p.Val1427Leu) | |
| X | g.31178787C>T | CA412652930 | DMD | c.4951G>A (p.Val1651Ile) n.2452G>A c.901G>A (p.Val301Ile) n.903G>A c.2725G>A (p.Val909Ile) n.736G>A n.1622G>A n.1204G>A n.1623G>A n.3597G>A c.1960G>A (p.Val654Ile) c.10105G>A (p.Val3369Ile) n.471G>A c.6073G>A (p.Val2025Ile) c.*107G>A (n.*107G>A) c.62G>A c.778G>A (p.Val260Ile) c.603+25174G>A (n.603+25174G>A) c.844G>A (p.Val282Ile) n.1035G>A c.1918G>A (p.Val640Ile) c.3193G>A (p.Val1065Ile) c.10093G>A (p.Val3365Ile) c.475G>A (p.Val159Ile) n.321G>A c.10090G>A (p.Val3364Ile) c.10102G>A (p.Val3368Ile) c.10081G>A (p.Val3361Ile) c.9736G>A (p.Val3246Ile) c.6082G>A (p.Val2028Ile) c.9976G>A (p.Val3326Ile) c.9967G>A (p.Val3323Ile) c.9982G>A (p.Val3328Ile) c.4279G>A (p.Val1427Ile) | |
| X | g.31178788A>C | CA412652931 | DMD | c.4950T>G (p.Asp1650Glu) n.2451T>G c.900T>G (p.Asp300Glu) n.902T>G c.2724T>G (p.Asp908Glu) n.735T>G n.1621T>G n.1203T>G n.1622T>G n.3596T>G c.1959T>G (p.Asp653Glu) c.10104T>G (p.Asp3368Glu) n.470T>G c.6072T>G (p.Asp2024Glu) c.*106T>G (n.*106T>G) c.61T>G c.777T>G (p.Asp259Glu) c.603+25173T>G (n.603+25173T>G) c.843T>G (p.Asp281Glu) n.1034T>G c.1917T>G (p.Asp639Glu) c.3192T>G (p.Asp1064Glu) c.10092T>G (p.Asp3364Glu) c.474T>G (p.Asp158Glu) n.320T>G c.10089T>G (p.Asp3363Glu) c.10101T>G (p.Asp3367Glu) c.10080T>G (p.Asp3360Glu) c.9735T>G (p.Asp3245Glu) c.6081T>G (p.Asp2027Glu) c.9975T>G (p.Asp3325Glu) c.9966T>G (p.Asp3322Glu) c.9981T>G (p.Asp3327Glu) c.4278T>G (p.Asp1426Glu) | |
| X | g.31178788A>G | CA515857838 | DMD | c.4950T>C (p.Asp1650=) n.2451T>C c.900T>C (p.Asp300=) n.902T>C c.2724T>C (p.Asp908=) n.735T>C n.1621T>C n.1203T>C n.1622T>C n.3596T>C c.1959T>C (p.Asp653=) c.10104T>C (p.Asp3368=) n.470T>C c.6072T>C (p.Asp2024=) c.*106T>C (n.*106T>C) c.61T>C c.777T>C (p.Asp259=) c.603+25173T>C (n.603+25173T>C) c.843T>C (p.Asp281=) n.1034T>C c.1917T>C (p.Asp639=) c.3192T>C (p.Asp1064=) c.10092T>C (p.Asp3364=) c.474T>C (p.Asp158=) n.320T>C c.10089T>C (p.Asp3363=) c.10101T>C (p.Asp3367=) c.10080T>C (p.Asp3360=) c.9735T>C (p.Asp3245=) c.6081T>C (p.Asp2027=) c.9975T>C (p.Asp3325=) c.9966T>C (p.Asp3322=) c.9981T>C (p.Asp3327=) c.4278T>C (p.Asp1426=) | |
| X | g.31178788A>T | CA412652932 | DMD | c.4950T>A (p.Asp1650Glu) n.2451T>A c.900T>A (p.Asp300Glu) n.902T>A c.2724T>A (p.Asp908Glu) n.735T>A n.1621T>A n.1203T>A n.1622T>A n.3596T>A c.1959T>A (p.Asp653Glu) c.10104T>A (p.Asp3368Glu) n.470T>A c.6072T>A (p.Asp2024Glu) c.*106T>A (n.*106T>A) c.61T>A c.777T>A (p.Asp259Glu) c.603+25173T>A (n.603+25173T>A) c.843T>A (p.Asp281Glu) n.1034T>A c.1917T>A (p.Asp639Glu) c.3192T>A (p.Asp1064Glu) c.10092T>A (p.Asp3364Glu) c.474T>A (p.Asp158Glu) n.320T>A c.10089T>A (p.Asp3363Glu) c.10101T>A (p.Asp3367Glu) c.10080T>A (p.Asp3360Glu) c.9735T>A (p.Asp3245Glu) c.6081T>A (p.Asp2027Glu) c.9975T>A (p.Asp3325Glu) c.9966T>A (p.Asp3322Glu) c.9981T>A (p.Asp3327Glu) c.4278T>A (p.Asp1426Glu) | |
| X | g.31178788_31178791delinsATCT | CA2422337946 | DMD | c.4947_4950delinsAGAT (p.Glu1649=) n.2448_2451delinsAGAT c.897_900delinsAGAT (p.Glu299=) n.899_902delinsAGAT c.2721_2724delinsAGAT (p.Glu907=) n.732_735delinsAGAT n.1618_1621delinsAGAT n.1200_1203delinsAGAT n.1619_1622delinsAGAT n.3593_3596delinsAGAT c.1956_1959delinsAGAT (p.Glu652=) c.10101_10104delinsAGAT (p.Glu3367=) n.467_470delinsAGAT c.6069_6072delinsAGAT (p.Glu2023=) c.*103_*106delinsAGAT (n.*103_*106delinsAGAT) c.58_61delinsAGAT c.774_777delinsAGAT (p.Glu258=) c.603+25170_603+25173delinsAGAT (n.603+25170_603+25173delinsAGAT) c.840_843delinsAGAT (p.Glu280=) n.1031_1034delinsAGAT c.1914_1917delinsAGAT (p.Glu638=) c.3189_3192delinsAGAT (p.Glu1063=) c.10089_10092delinsAGAT (p.Glu3363=) c.471_474delinsAGAT (p.Glu157=) n.317_320delinsAGAT c.10086_10089delinsAGAT (p.Glu3362=) c.10098_10101delinsAGAT (p.Glu3366=) c.10077_10080delinsAGAT (p.Glu3359=) c.9732_9735delinsAGAT (p.Glu3244=) c.6078_6081delinsAGAT (p.Glu2026=) c.9972_9975delinsAGAT (p.Glu3324=) c.9963_9966delinsAGAT (p.Glu3321=) c.9978_9981delinsAGAT (p.Glu3326=) c.4275_4278delinsAGAT (p.Glu1425=) | |
| X | g.31178789T>A | CA412652933 | DMD | c.4949A>T (p.Asp1650Val) n.2450A>T c.899A>T (p.Asp300Val) n.901A>T c.2723A>T (p.Asp908Val) n.734A>T n.1620A>T n.1202A>T n.1621A>T n.3595A>T c.1958A>T (p.Asp653Val) c.10103A>T (p.Asp3368Val) n.469A>T c.6071A>T (p.Asp2024Val) c.*105A>T (n.*105A>T) c.60A>T c.776A>T (p.Asp259Val) c.603+25172A>T (n.603+25172A>T) c.842A>T (p.Asp281Val) n.1033A>T c.1916A>T (p.Asp639Val) c.3191A>T (p.Asp1064Val) c.10091A>T (p.Asp3364Val) c.473A>T (p.Asp158Val) n.319A>T c.10088A>T (p.Asp3363Val) c.10100A>T (p.Asp3367Val) c.10079A>T (p.Asp3360Val) c.9734A>T (p.Asp3245Val) c.6080A>T (p.Asp2027Val) c.9974A>T (p.Asp3325Val) c.9965A>T (p.Asp3322Val) c.9980A>T (p.Asp3327Val) c.4277A>T (p.Asp1426Val) | |
| X | g.31178789T>C | CA412652934 | DMD | c.4949A>G (p.Asp1650Gly) n.2450A>G c.899A>G (p.Asp300Gly) n.901A>G c.2723A>G (p.Asp908Gly) n.734A>G n.1620A>G n.1202A>G n.1621A>G n.3595A>G c.1958A>G (p.Asp653Gly) c.10103A>G (p.Asp3368Gly) n.469A>G c.6071A>G (p.Asp2024Gly) c.*105A>G (n.*105A>G) c.60A>G c.776A>G (p.Asp259Gly) c.603+25172A>G (n.603+25172A>G) c.842A>G (p.Asp281Gly) n.1033A>G c.1916A>G (p.Asp639Gly) c.3191A>G (p.Asp1064Gly) c.10091A>G (p.Asp3364Gly) c.473A>G (p.Asp158Gly) n.319A>G c.10088A>G (p.Asp3363Gly) c.10100A>G (p.Asp3367Gly) c.10079A>G (p.Asp3360Gly) c.9734A>G (p.Asp3245Gly) c.6080A>G (p.Asp2027Gly) c.9974A>G (p.Asp3325Gly) c.9965A>G (p.Asp3322Gly) c.9980A>G (p.Asp3327Gly) c.4277A>G (p.Asp1426Gly) | ClinVar dbSNP |
| X | g.31178789T>G | CA412652935 | DMD | c.4949A>C (p.Asp1650Ala) n.2450A>C c.899A>C (p.Asp300Ala) n.901A>C c.2723A>C (p.Asp908Ala) n.734A>C n.1620A>C n.1202A>C n.1621A>C n.3595A>C c.1958A>C (p.Asp653Ala) c.10103A>C (p.Asp3368Ala) n.469A>C c.6071A>C (p.Asp2024Ala) c.*105A>C (n.*105A>C) c.60A>C c.776A>C (p.Asp259Ala) c.603+25172A>C (n.603+25172A>C) c.842A>C (p.Asp281Ala) n.1033A>C c.1916A>C (p.Asp639Ala) c.3191A>C (p.Asp1064Ala) c.10091A>C (p.Asp3364Ala) c.473A>C (p.Asp158Ala) n.319A>C c.10088A>C (p.Asp3363Ala) c.10100A>C (p.Asp3367Ala) c.10079A>C (p.Asp3360Ala) c.9734A>C (p.Asp3245Ala) c.6080A>C (p.Asp2027Ala) c.9974A>C (p.Asp3325Ala) c.9965A>C (p.Asp3322Ala) c.9980A>C (p.Asp3327Ala) c.4277A>C (p.Asp1426Ala) | |
| X | g.31178792_31178794del | CA10604751 | DMD | c.4947_4949del (p.Glu1649del) n.2448_2450del c.897_899del (p.Glu299del) n.899_901del c.2721_2723del (p.Glu907del) n.732_734del n.1618_1620del n.1200_1202del n.1619_1621del n.3593_3595del c.1956_1958del (p.Glu652del) c.10101_10103del (p.Glu3367del) n.467_469del c.6069_6071del (p.Glu2023del) c.*103_*105del (n.*103_*105del) c.58_60del c.774_776del (p.Glu258del) c.603+25170_603+25172del (n.603+25170_603+25172del) c.840_842del (p.Glu280del) n.1031_1033del c.1914_1916del (p.Glu638del) c.3189_3191del (p.Glu1063del) c.10089_10091del (p.Glu3363del) c.471_473del (p.Glu157del) n.317_319del c.10086_10088del (p.Glu3362del) c.10098_10100del (p.Glu3366del) c.10077_10079del (p.Glu3359del) c.9732_9734del (p.Glu3244del) c.6078_6080del (p.Glu2026del) c.9972_9974del (p.Glu3324del) c.9963_9965del (p.Glu3321del) c.9978_9980del (p.Glu3326del) c.4275_4277del (p.Glu1425del) | ClinVar dbSNP |
| X | g.31178790C>A | CA412652936 | DMD | c.4948G>T (p.Asp1650Tyr) n.2449G>T c.898G>T (p.Asp300Tyr) n.900G>T c.2722G>T (p.Asp908Tyr) n.733G>T n.1619G>T n.1201G>T n.1620G>T n.3594G>T c.1957G>T (p.Asp653Tyr) c.10102G>T (p.Asp3368Tyr) n.468G>T c.6070G>T (p.Asp2024Tyr) c.*104G>T (n.*104G>T) c.59G>T c.775G>T (p.Asp259Tyr) c.603+25171G>T (n.603+25171G>T) c.841G>T (p.Asp281Tyr) n.1032G>T c.1915G>T (p.Asp639Tyr) c.3190G>T (p.Asp1064Tyr) c.10090G>T (p.Asp3364Tyr) c.472G>T (p.Asp158Tyr) n.318G>T c.10087G>T (p.Asp3363Tyr) c.10099G>T (p.Asp3367Tyr) c.10078G>T (p.Asp3360Tyr) c.9733G>T (p.Asp3245Tyr) c.6079G>T (p.Asp2027Tyr) c.9973G>T (p.Asp3325Tyr) c.9964G>T (p.Asp3322Tyr) c.9979G>T (p.Asp3327Tyr) c.4276G>T (p.Asp1426Tyr) | ClinVar dbSNP |
| X | g.31178790C= | CA2422337947 | DMD | c.4948G= (p.Asp1650=) n.2449G= c.898G= (p.Asp300=) n.900G= c.2722G= (p.Asp908=) n.733G= n.1619G= n.1201G= n.1620G= n.3594G= c.1957G= (p.Asp653=) c.10102G= (p.Asp3368=) n.468G= c.6070G= (p.Asp2024=) c.*104G= (n.*104G=) c.59G= c.775G= (p.Asp259=) c.603+25171G= (n.603+25171G=) c.841G= (p.Asp281=) n.1032G= c.1915G= (p.Asp639=) c.3190G= (p.Asp1064=) c.10090G= (p.Asp3364=) c.472G= (p.Asp158=) n.318G= c.10087G= (p.Asp3363=) c.10099G= (p.Asp3367=) c.10078G= (p.Asp3360=) c.9733G= (p.Asp3245=) c.6079G= (p.Asp2027=) c.9973G= (p.Asp3325=) c.9964G= (p.Asp3322=) c.9979G= (p.Asp3327=) c.4276G= (p.Asp1426=) | |
| X | g.31178790C>G | CA412652937 | DMD | c.4948G>C (p.Asp1650His) n.2449G>C c.898G>C (p.Asp300His) n.900G>C c.2722G>C (p.Asp908His) n.733G>C n.1619G>C n.1201G>C n.1620G>C n.3594G>C c.1957G>C (p.Asp653His) c.10102G>C (p.Asp3368His) n.468G>C c.6070G>C (p.Asp2024His) c.*104G>C (n.*104G>C) c.59G>C c.775G>C (p.Asp259His) c.603+25171G>C (n.603+25171G>C) c.841G>C (p.Asp281His) n.1032G>C c.1915G>C (p.Asp639His) c.3190G>C (p.Asp1064His) c.10090G>C (p.Asp3364His) c.472G>C (p.Asp158His) n.318G>C c.10087G>C (p.Asp3363His) c.10099G>C (p.Asp3367His) c.10078G>C (p.Asp3360His) c.9733G>C (p.Asp3245His) c.6079G>C (p.Asp2027His) c.9973G>C (p.Asp3325His) c.9964G>C (p.Asp3322His) c.9979G>C (p.Asp3327His) c.4276G>C (p.Asp1426His) | |
| X | g.31178790C>T | CA412652938 | DMD | c.4948G>A (p.Asp1650Asn) n.2449G>A c.898G>A (p.Asp300Asn) n.900G>A c.2722G>A (p.Asp908Asn) n.733G>A n.1619G>A n.1201G>A n.1620G>A n.3594G>A c.1957G>A (p.Asp653Asn) c.10102G>A (p.Asp3368Asn) n.468G>A c.6070G>A (p.Asp2024Asn) c.*104G>A (n.*104G>A) c.59G>A c.775G>A (p.Asp259Asn) c.603+25171G>A (n.603+25171G>A) c.841G>A (p.Asp281Asn) n.1032G>A c.1915G>A (p.Asp639Asn) c.3190G>A (p.Asp1064Asn) c.10090G>A (p.Asp3364Asn) c.472G>A (p.Asp158Asn) n.318G>A c.10087G>A (p.Asp3363Asn) c.10099G>A (p.Asp3367Asn) c.10078G>A (p.Asp3360Asn) c.9733G>A (p.Asp3245Asn) c.6079G>A (p.Asp2027Asn) c.9973G>A (p.Asp3325Asn) c.9964G>A (p.Asp3322Asn) c.9979G>A (p.Asp3327Asn) c.4276G>A (p.Asp1426Asn) | |
| X | g.31178791T>A | CA412652939 | DMD | c.4947A>T (p.Glu1649Asp) n.2448A>T c.897A>T (p.Glu299Asp) n.899A>T c.2721A>T (p.Glu907Asp) n.732A>T n.1618A>T n.1200A>T n.1619A>T n.3593A>T c.1956A>T (p.Glu652Asp) c.10101A>T (p.Glu3367Asp) n.467A>T c.6069A>T (p.Glu2023Asp) c.*103A>T (n.*103A>T) c.58A>T c.774A>T (p.Glu258Asp) c.603+25170A>T (n.603+25170A>T) c.840A>T (p.Glu280Asp) n.1031A>T c.1914A>T (p.Glu638Asp) c.3189A>T (p.Glu1063Asp) c.10089A>T (p.Glu3363Asp) c.471A>T (p.Glu157Asp) n.317A>T c.10086A>T (p.Glu3362Asp) c.10098A>T (p.Glu3366Asp) c.10077A>T (p.Glu3359Asp) c.9732A>T (p.Glu3244Asp) c.6078A>T (p.Glu2026Asp) c.9972A>T (p.Glu3324Asp) c.9963A>T (p.Glu3321Asp) c.9978A>T (p.Glu3326Asp) c.4275A>T (p.Glu1425Asp) | |
| X | g.31178791T>C | CA515857840 | DMD | c.4947A>G (p.Glu1649=) n.2448A>G c.897A>G (p.Glu299=) n.899A>G c.2721A>G (p.Glu907=) n.732A>G n.1618A>G n.1200A>G n.1619A>G n.3593A>G c.1956A>G (p.Glu652=) c.10101A>G (p.Glu3367=) n.467A>G c.6069A>G (p.Glu2023=) c.*103A>G (n.*103A>G) c.58A>G c.774A>G (p.Glu258=) c.603+25170A>G (n.603+25170A>G) c.840A>G (p.Glu280=) n.1031A>G c.1914A>G (p.Glu638=) c.3189A>G (p.Glu1063=) c.10089A>G (p.Glu3363=) c.471A>G (p.Glu157=) n.317A>G c.10086A>G (p.Glu3362=) c.10098A>G (p.Glu3366=) c.10077A>G (p.Glu3359=) c.9732A>G (p.Glu3244=) c.6078A>G (p.Glu2026=) c.9972A>G (p.Glu3324=) c.9963A>G (p.Glu3321=) c.9978A>G (p.Glu3326=) c.4275A>G (p.Glu1425=) | |
| X | g.31178791T>G | CA412652940 | DMD | c.4947A>C (p.Glu1649Asp) n.2448A>C c.897A>C (p.Glu299Asp) n.899A>C c.2721A>C (p.Glu907Asp) n.732A>C n.1618A>C n.1200A>C n.1619A>C n.3593A>C c.1956A>C (p.Glu652Asp) c.10101A>C (p.Glu3367Asp) n.467A>C c.6069A>C (p.Glu2023Asp) c.*103A>C (n.*103A>C) c.58A>C c.774A>C (p.Glu258Asp) c.603+25170A>C (n.603+25170A>C) c.840A>C (p.Glu280Asp) n.1031A>C c.1914A>C (p.Glu638Asp) c.3189A>C (p.Glu1063Asp) c.10089A>C (p.Glu3363Asp) c.471A>C (p.Glu157Asp) n.317A>C c.10086A>C (p.Glu3362Asp) c.10098A>C (p.Glu3366Asp) c.10077A>C (p.Glu3359Asp) c.9732A>C (p.Glu3244Asp) c.6078A>C (p.Glu2026Asp) c.9972A>C (p.Glu3324Asp) c.9963A>C (p.Glu3321Asp) c.9978A>C (p.Glu3326Asp) c.4275A>C (p.Glu1425Asp) | |
| X | g.31178792T>A | CA412652941 | DMD | c.4946A>T (p.Glu1649Val) n.2447A>T c.896A>T (p.Glu299Val) n.898A>T c.2720A>T (p.Glu907Val) n.731A>T n.1617A>T n.1199A>T n.1618A>T n.3592A>T c.1955A>T (p.Glu652Val) c.10100A>T (p.Glu3367Val) n.466A>T c.6068A>T (p.Glu2023Val) c.*102A>T (n.*102A>T) c.57A>T c.773A>T (p.Glu258Val) c.603+25169A>T (n.603+25169A>T) c.839A>T (p.Glu280Val) n.1030A>T c.1913A>T (p.Glu638Val) c.3188A>T (p.Glu1063Val) c.10088A>T (p.Glu3363Val) c.470A>T (p.Glu157Val) n.316A>T c.10085A>T (p.Glu3362Val) c.10097A>T (p.Glu3366Val) c.10076A>T (p.Glu3359Val) c.9731A>T (p.Glu3244Val) c.6077A>T (p.Glu2026Val) c.9971A>T (p.Glu3324Val) c.9962A>T (p.Glu3321Val) c.9977A>T (p.Glu3326Val) c.4274A>T (p.Glu1425Val) | |
| X | g.31178792T>C | CA412652942 | DMD | c.4946A>G (p.Glu1649Gly) n.2447A>G c.896A>G (p.Glu299Gly) n.898A>G c.2720A>G (p.Glu907Gly) n.731A>G n.1617A>G n.1199A>G n.1618A>G n.3592A>G c.1955A>G (p.Glu652Gly) c.10100A>G (p.Glu3367Gly) n.466A>G c.6068A>G (p.Glu2023Gly) c.*102A>G (n.*102A>G) c.57A>G c.773A>G (p.Glu258Gly) c.603+25169A>G (n.603+25169A>G) c.839A>G (p.Glu280Gly) n.1030A>G c.1913A>G (p.Glu638Gly) c.3188A>G (p.Glu1063Gly) c.10088A>G (p.Glu3363Gly) c.470A>G (p.Glu157Gly) n.316A>G c.10085A>G (p.Glu3362Gly) c.10097A>G (p.Glu3366Gly) c.10076A>G (p.Glu3359Gly) c.9731A>G (p.Glu3244Gly) c.6077A>G (p.Glu2026Gly) c.9971A>G (p.Glu3324Gly) c.9962A>G (p.Glu3321Gly) c.9977A>G (p.Glu3326Gly) c.4274A>G (p.Glu1425Gly) | |
| X | g.31178792T>G | CA412652943 | DMD | c.4946A>C (p.Glu1649Ala) n.2447A>C c.896A>C (p.Glu299Ala) n.898A>C c.2720A>C (p.Glu907Ala) n.731A>C n.1617A>C n.1199A>C n.1618A>C n.3592A>C c.1955A>C (p.Glu652Ala) c.10100A>C (p.Glu3367Ala) n.466A>C c.6068A>C (p.Glu2023Ala) c.*102A>C (n.*102A>C) c.57A>C c.773A>C (p.Glu258Ala) c.603+25169A>C (n.603+25169A>C) c.839A>C (p.Glu280Ala) n.1030A>C c.1913A>C (p.Glu638Ala) c.3188A>C (p.Glu1063Ala) c.10088A>C (p.Glu3363Ala) c.470A>C (p.Glu157Ala) n.316A>C c.10085A>C (p.Glu3362Ala) c.10097A>C (p.Glu3366Ala) c.10076A>C (p.Glu3359Ala) c.9731A>C (p.Glu3244Ala) c.6077A>C (p.Glu2026Ala) c.9971A>C (p.Glu3324Ala) c.9962A>C (p.Glu3321Ala) c.9977A>C (p.Glu3326Ala) c.4274A>C (p.Glu1425Ala) | |
| X | g.31178792_31178795delinsTCTC | CA2422337948 | DMD | c.4943_4946delinsGAGA (p.Gly1648=) n.2444_2447delinsGAGA c.893_896delinsGAGA (p.Gly298=) n.895_898delinsGAGA c.2717_2720delinsGAGA (p.Gly906=) n.728_731delinsGAGA n.1614_1617delinsGAGA n.1196_1199delinsGAGA n.1615_1618delinsGAGA n.3589_3592delinsGAGA c.1952_1955delinsGAGA (p.Gly651=) c.10097_10100delinsGAGA (p.Gly3366=) n.463_466delinsGAGA c.6065_6068delinsGAGA (p.Gly2022=) c.*99_*102delinsGAGA (n.*99_*102delinsGAGA) c.54_57delinsGAGA c.770_773delinsGAGA (p.Gly257=) c.603+25166_603+25169delinsGAGA (n.603+25166_603+25169delinsGAGA) c.836_839delinsGAGA (p.Gly279=) n.1027_1030delinsGAGA c.1910_1913delinsGAGA (p.Gly637=) c.3185_3188delinsGAGA (p.Gly1062=) c.10085_10088delinsGAGA (p.Gly3362=) c.467_470delinsGAGA (p.Gly156=) n.313_316delinsGAGA c.10082_10085delinsGAGA (p.Gly3361=) c.10094_10097delinsGAGA (p.Gly3365=) c.10073_10076delinsGAGA (p.Gly3358=) c.9728_9731delinsGAGA (p.Gly3243=) c.6074_6077delinsGAGA (p.Gly2025=) c.9968_9971delinsGAGA (p.Gly3323=) c.9959_9962delinsGAGA (p.Gly3320=) c.9974_9977delinsGAGA (p.Gly3325=) c.4271_4274delinsGAGA (p.Gly1424=) | |
| X | g.31178793C>A | CA412652944 | DMD | c.4945G>T (p.Glu1649Ter) n.2446G>T c.895G>T (p.Glu299Ter) n.897G>T c.2719G>T (p.Glu907Ter) n.730G>T n.1616G>T n.1198G>T n.1617G>T n.3591G>T c.1954G>T (p.Glu652Ter) c.10099G>T (p.Glu3367Ter) n.465G>T c.6067G>T (p.Glu2023Ter) c.*101G>T (n.*101G>T) c.56G>T c.772G>T (p.Glu258Ter) c.603+25168G>T (n.603+25168G>T) c.838G>T (p.Glu280Ter) n.1029G>T c.1912G>T (p.Glu638Ter) c.3187G>T (p.Glu1063Ter) c.10087G>T (p.Glu3363Ter) c.469G>T (p.Glu157Ter) n.315G>T c.10084G>T (p.Glu3362Ter) c.10096G>T (p.Glu3366Ter) c.10075G>T (p.Glu3359Ter) c.9730G>T (p.Glu3244Ter) c.6076G>T (p.Glu2026Ter) c.9970G>T (p.Glu3324Ter) c.9961G>T (p.Glu3321Ter) c.9976G>T (p.Glu3326Ter) c.4273G>T (p.Glu1425Ter) | |
| X | g.31178793C>G | CA412652945 | DMD | c.4945G>C (p.Glu1649Gln) n.2446G>C c.895G>C (p.Glu299Gln) n.897G>C c.2719G>C (p.Glu907Gln) n.730G>C n.1616G>C n.1198G>C n.1617G>C n.3591G>C c.1954G>C (p.Glu652Gln) c.10099G>C (p.Glu3367Gln) n.465G>C c.6067G>C (p.Glu2023Gln) c.*101G>C (n.*101G>C) c.56G>C c.772G>C (p.Glu258Gln) c.603+25168G>C (n.603+25168G>C) c.838G>C (p.Glu280Gln) n.1029G>C c.1912G>C (p.Glu638Gln) c.3187G>C (p.Glu1063Gln) c.10087G>C (p.Glu3363Gln) c.469G>C (p.Glu157Gln) n.315G>C c.10084G>C (p.Glu3362Gln) c.10096G>C (p.Glu3366Gln) c.10075G>C (p.Glu3359Gln) c.9730G>C (p.Glu3244Gln) c.6076G>C (p.Glu2026Gln) c.9970G>C (p.Glu3324Gln) c.9961G>C (p.Glu3321Gln) c.9976G>C (p.Glu3326Gln) c.4273G>C (p.Glu1425Gln) | |
| X | g.31178793C>T | CA412652946 | DMD | c.4945G>A (p.Glu1649Lys) n.2446G>A c.895G>A (p.Glu299Lys) n.897G>A c.2719G>A (p.Glu907Lys) n.730G>A n.1616G>A n.1198G>A n.1617G>A n.3591G>A c.1954G>A (p.Glu652Lys) c.10099G>A (p.Glu3367Lys) n.465G>A c.6067G>A (p.Glu2023Lys) c.*101G>A (n.*101G>A) c.56G>A c.772G>A (p.Glu258Lys) c.603+25168G>A (n.603+25168G>A) c.838G>A (p.Glu280Lys) n.1029G>A c.1912G>A (p.Glu638Lys) c.3187G>A (p.Glu1063Lys) c.10087G>A (p.Glu3363Lys) c.469G>A (p.Glu157Lys) n.315G>A c.10084G>A (p.Glu3362Lys) c.10096G>A (p.Glu3366Lys) c.10075G>A (p.Glu3359Lys) c.9730G>A (p.Glu3244Lys) c.6076G>A (p.Glu2026Lys) c.9970G>A (p.Glu3324Lys) c.9961G>A (p.Glu3321Lys) c.9976G>A (p.Glu3326Lys) c.4273G>A (p.Glu1425Lys) | |
| X | g.31178795_31178797del | CA16616476 | DMD | c.4943_4945del (p.Gly1648del) n.2444_2446del c.893_895del (p.Gly298del) n.895_897del c.2717_2719del (p.Gly906del) n.728_730del n.1614_1616del n.1196_1198del n.1615_1617del n.3589_3591del c.1952_1954del (p.Gly651del) c.10097_10099del (p.Gly3366del) n.463_465del c.6065_6067del (p.Gly2022del) c.*99_*101del (n.*99_*101del) c.54_56del c.770_772del (p.Gly257del) c.603+25166_603+25168del (n.603+25166_603+25168del) c.836_838del (p.Gly279del) n.1027_1029del c.1910_1912del (p.Gly637del) c.3185_3187del (p.Gly1062del) c.10085_10087del (p.Gly3362del) c.467_469del (p.Gly156del) n.313_315del c.10082_10084del (p.Gly3361del) c.10094_10096del (p.Gly3365del) c.10073_10075del (p.Gly3358del) c.9728_9730del (p.Gly3243del) c.6074_6076del (p.Gly2025del) c.9968_9970del (p.Gly3323del) c.9959_9961del (p.Gly3320del) c.9974_9976del (p.Gly3325del) c.4271_4273del (p.Gly1424del) | ClinVar dbSNP |
| X | g.31178794T>A | CA515857841 | DMD | c.4944A>T (p.Gly1648=) n.2445A>T c.894A>T (p.Gly298=) n.896A>T c.2718A>T (p.Gly906=) n.729A>T n.1615A>T n.1197A>T n.1616A>T n.3590A>T c.1953A>T (p.Gly651=) c.10098A>T (p.Gly3366=) n.464A>T c.6066A>T (p.Gly2022=) c.*100A>T (n.*100A>T) c.55A>T c.771A>T (p.Gly257=) c.603+25167A>T (n.603+25167A>T) c.837A>T (p.Gly279=) n.1028A>T c.1911A>T (p.Gly637=) c.3186A>T (p.Gly1062=) c.10086A>T (p.Gly3362=) c.468A>T (p.Gly156=) n.314A>T c.10083A>T (p.Gly3361=) c.10095A>T (p.Gly3365=) c.10074A>T (p.Gly3358=) c.9729A>T (p.Gly3243=) c.6075A>T (p.Gly2025=) c.9969A>T (p.Gly3323=) c.9960A>T (p.Gly3320=) c.9975A>T (p.Gly3325=) c.4272A>T (p.Gly1424=) | |
| X | g.31178794T>C | CA515857842 | DMD | c.4944A>G (p.Gly1648=) n.2445A>G c.894A>G (p.Gly298=) n.896A>G c.2718A>G (p.Gly906=) n.729A>G n.1615A>G n.1197A>G n.1616A>G n.3590A>G c.1953A>G (p.Gly651=) c.10098A>G (p.Gly3366=) n.464A>G c.6066A>G (p.Gly2022=) c.*100A>G (n.*100A>G) c.55A>G c.771A>G (p.Gly257=) c.603+25167A>G (n.603+25167A>G) c.837A>G (p.Gly279=) n.1028A>G c.1911A>G (p.Gly637=) c.3186A>G (p.Gly1062=) c.10086A>G (p.Gly3362=) c.468A>G (p.Gly156=) n.314A>G c.10083A>G (p.Gly3361=) c.10095A>G (p.Gly3365=) c.10074A>G (p.Gly3358=) c.9729A>G (p.Gly3243=) c.6075A>G (p.Gly2025=) c.9969A>G (p.Gly3323=) c.9960A>G (p.Gly3320=) c.9975A>G (p.Gly3325=) c.4272A>G (p.Gly1424=) | |
| X | g.31178794T>G | CA515857843 | DMD | c.4944A>C (p.Gly1648=) n.2445A>C c.894A>C (p.Gly298=) n.896A>C c.2718A>C (p.Gly906=) n.729A>C n.1615A>C n.1197A>C n.1616A>C n.3590A>C c.1953A>C (p.Gly651=) c.10098A>C (p.Gly3366=) n.464A>C c.6066A>C (p.Gly2022=) c.*100A>C (n.*100A>C) c.55A>C c.771A>C (p.Gly257=) c.603+25167A>C (n.603+25167A>C) c.837A>C (p.Gly279=) n.1028A>C c.1911A>C (p.Gly637=) c.3186A>C (p.Gly1062=) c.10086A>C (p.Gly3362=) c.468A>C (p.Gly156=) n.314A>C c.10083A>C (p.Gly3361=) c.10095A>C (p.Gly3365=) c.10074A>C (p.Gly3358=) c.9729A>C (p.Gly3243=) c.6075A>C (p.Gly2025=) c.9969A>C (p.Gly3323=) c.9960A>C (p.Gly3320=) c.9975A>C (p.Gly3325=) c.4272A>C (p.Gly1424=) | |
| X | g.31178794_31178805del | CA2573158734 | DMD | c.4933_4944del (p.Thr1645_Gly1648del) n.2434_2445del c.883_894del (p.Thr295_Gly298del) n.885_896del c.2707_2718del (p.Thr903_Gly906del) n.718_729del n.1604_1615del n.1186_1197del n.1605_1616del n.3579_3590del c.1942_1953del (p.Thr648_Gly651del) c.10087_10098del (p.Thr3363_Gly3366del) n.453_464del c.6055_6066del (p.Thr2019_Gly2022del) c.*89_*100del (n.*89_*100del) c.44_55del c.760_771del (p.Thr254_Gly257del) c.603+25156_603+25167del (n.603+25156_603+25167del) c.826_837del (p.Thr276_Gly279del) n.1017_1028del c.1900_1911del (p.Thr634_Gly637del) c.3175_3186del (p.Thr1059_Gly1062del) c.10075_10086del (p.Thr3359_Gly3362del) c.457_468del (p.Thr153_Gly156del) n.303_314del c.10072_10083del (p.Thr3358_Gly3361del) c.10084_10095del (p.Thr3362_Gly3365del) c.10063_10074del (p.Thr3355_Gly3358del) c.9718_9729del (p.Thr3240_Gly3243del) c.6064_6075del (p.Thr2022_Gly2025del) c.9958_9969del (p.Thr3320_Gly3323del) c.9949_9960del (p.Thr3317_Gly3320del) c.9964_9975del (p.Thr3322_Gly3325del) c.4261_4272del (p.Thr1421_Gly1424del) | ClinVar dbSNP |
| X | g.31178795C>A | CA412652947 | DMD | c.4943G>T (p.Gly1648Val) n.2444G>T c.893G>T (p.Gly298Val) n.895G>T c.2717G>T (p.Gly906Val) n.728G>T n.1614G>T n.1196G>T n.1615G>T n.3589G>T c.1952G>T (p.Gly651Val) c.10097G>T (p.Gly3366Val) n.463G>T c.6065G>T (p.Gly2022Val) c.*99G>T (n.*99G>T) c.54G>T c.770G>T (p.Gly257Val) c.603+25166G>T (n.603+25166G>T) c.836G>T (p.Gly279Val) n.1027G>T c.1910G>T (p.Gly637Val) c.3185G>T (p.Gly1062Val) c.10085G>T (p.Gly3362Val) c.467G>T (p.Gly156Val) n.313G>T c.10082G>T (p.Gly3361Val) c.10094G>T (p.Gly3365Val) c.10073G>T (p.Gly3358Val) c.9728G>T (p.Gly3243Val) c.6074G>T (p.Gly2025Val) c.9968G>T (p.Gly3323Val) c.9959G>T (p.Gly3320Val) c.9974G>T (p.Gly3325Val) c.4271G>T (p.Gly1424Val) | |
| X | g.31178795C>G | CA412652948 | DMD | c.4943G>C (p.Gly1648Ala) n.2444G>C c.893G>C (p.Gly298Ala) n.895G>C c.2717G>C (p.Gly906Ala) n.728G>C n.1614G>C n.1196G>C n.1615G>C n.3589G>C c.1952G>C (p.Gly651Ala) c.10097G>C (p.Gly3366Ala) n.463G>C c.6065G>C (p.Gly2022Ala) c.*99G>C (n.*99G>C) c.54G>C c.770G>C (p.Gly257Ala) c.603+25166G>C (n.603+25166G>C) c.836G>C (p.Gly279Ala) n.1027G>C c.1910G>C (p.Gly637Ala) c.3185G>C (p.Gly1062Ala) c.10085G>C (p.Gly3362Ala) c.467G>C (p.Gly156Ala) n.313G>C c.10082G>C (p.Gly3361Ala) c.10094G>C (p.Gly3365Ala) c.10073G>C (p.Gly3358Ala) c.9728G>C (p.Gly3243Ala) c.6074G>C (p.Gly2025Ala) c.9968G>C (p.Gly3323Ala) c.9959G>C (p.Gly3320Ala) c.9974G>C (p.Gly3325Ala) c.4271G>C (p.Gly1424Ala) | |
| X | g.31178795C>T | CA412652949 | DMD | c.4943G>A (p.Gly1648Glu) n.2444G>A c.893G>A (p.Gly298Glu) n.895G>A c.2717G>A (p.Gly906Glu) n.728G>A n.1614G>A n.1196G>A n.1615G>A n.3589G>A c.1952G>A (p.Gly651Glu) c.10097G>A (p.Gly3366Glu) n.463G>A c.6065G>A (p.Gly2022Glu) c.*99G>A (n.*99G>A) c.54G>A c.770G>A (p.Gly257Glu) c.603+25166G>A (n.603+25166G>A) c.836G>A (p.Gly279Glu) n.1027G>A c.1910G>A (p.Gly637Glu) c.3185G>A (p.Gly1062Glu) c.10085G>A (p.Gly3362Glu) c.467G>A (p.Gly156Glu) n.313G>A c.10082G>A (p.Gly3361Glu) c.10094G>A (p.Gly3365Glu) c.10073G>A (p.Gly3358Glu) c.9728G>A (p.Gly3243Glu) c.6074G>A (p.Gly2025Glu) c.9968G>A (p.Gly3323Glu) c.9959G>A (p.Gly3320Glu) c.9974G>A (p.Gly3325Glu) c.4271G>A (p.Gly1424Glu) | |
| X | g.31178796C>A | CA412652950 | DMD | c.4942G>T (p.Gly1648Ter) n.2443G>T c.892G>T (p.Gly298Ter) n.894G>T c.2716G>T (p.Gly906Ter) n.727G>T n.1613G>T n.1195G>T n.1614G>T n.3588G>T c.1951G>T (p.Gly651Ter) c.10096G>T (p.Gly3366Ter) n.462G>T c.6064G>T (p.Gly2022Ter) c.*98G>T (n.*98G>T) c.53G>T c.769G>T (p.Gly257Ter) c.603+25165G>T (n.603+25165G>T) c.835G>T (p.Gly279Ter) n.1026G>T c.1909G>T (p.Gly637Ter) c.3184G>T (p.Gly1062Ter) c.10084G>T (p.Gly3362Ter) c.466G>T (p.Gly156Ter) n.312G>T c.10081G>T (p.Gly3361Ter) c.10093G>T (p.Gly3365Ter) c.10072G>T (p.Gly3358Ter) c.9727G>T (p.Gly3243Ter) c.6073G>T (p.Gly2025Ter) c.9967G>T (p.Gly3323Ter) c.9958G>T (p.Gly3320Ter) c.9973G>T (p.Gly3325Ter) c.4270G>T (p.Gly1424Ter) | |
| X | g.31178796C>G | CA412652951 | DMD | c.4942G>C (p.Gly1648Arg) n.2443G>C c.892G>C (p.Gly298Arg) n.894G>C c.2716G>C (p.Gly906Arg) n.727G>C n.1613G>C n.1195G>C n.1614G>C n.3588G>C c.1951G>C (p.Gly651Arg) c.10096G>C (p.Gly3366Arg) n.462G>C c.6064G>C (p.Gly2022Arg) c.*98G>C (n.*98G>C) c.53G>C c.769G>C (p.Gly257Arg) c.603+25165G>C (n.603+25165G>C) c.835G>C (p.Gly279Arg) n.1026G>C c.1909G>C (p.Gly637Arg) c.3184G>C (p.Gly1062Arg) c.10084G>C (p.Gly3362Arg) c.466G>C (p.Gly156Arg) n.312G>C c.10081G>C (p.Gly3361Arg) c.10093G>C (p.Gly3365Arg) c.10072G>C (p.Gly3358Arg) c.9727G>C (p.Gly3243Arg) c.6073G>C (p.Gly2025Arg) c.9967G>C (p.Gly3323Arg) c.9958G>C (p.Gly3320Arg) c.9973G>C (p.Gly3325Arg) c.4270G>C (p.Gly1424Arg) | |
| X | g.31178796C>T | CA412652952 | DMD | c.4942G>A (p.Gly1648Arg) n.2443G>A c.892G>A (p.Gly298Arg) n.894G>A c.2716G>A (p.Gly906Arg) n.727G>A n.1613G>A n.1195G>A n.1614G>A n.3588G>A c.1951G>A (p.Gly651Arg) c.10096G>A (p.Gly3366Arg) n.462G>A c.6064G>A (p.Gly2022Arg) c.*98G>A (n.*98G>A) c.53G>A c.769G>A (p.Gly257Arg) c.603+25165G>A (n.603+25165G>A) c.835G>A (p.Gly279Arg) n.1026G>A c.1909G>A (p.Gly637Arg) c.3184G>A (p.Gly1062Arg) c.10084G>A (p.Gly3362Arg) c.466G>A (p.Gly156Arg) n.312G>A c.10081G>A (p.Gly3361Arg) c.10093G>A (p.Gly3365Arg) c.10072G>A (p.Gly3358Arg) c.9727G>A (p.Gly3243Arg) c.6073G>A (p.Gly2025Arg) c.9967G>A (p.Gly3323Arg) c.9958G>A (p.Gly3320Arg) c.9973G>A (p.Gly3325Arg) c.4270G>A (p.Gly1424Arg) | |
| X | g.31178797T>A | CA515857844 | DMD | c.4941A>T (p.Ser1647=) n.2442A>T c.891A>T (p.Ser297=) n.893A>T c.2715A>T (p.Ser905=) n.726A>T n.1612A>T n.1194A>T n.1613A>T n.3587A>T c.1950A>T (p.Ser650=) c.10095A>T (p.Ser3365=) n.461A>T c.6063A>T (p.Ser2021=) c.*97A>T (n.*97A>T) c.52A>T c.768A>T (p.Ser256=) c.603+25164A>T (n.603+25164A>T) c.834A>T (p.Ser278=) n.1025A>T c.1908A>T (p.Ser636=) c.3183A>T (p.Ser1061=) c.10083A>T (p.Ser3361=) c.465A>T (p.Ser155=) n.311A>T c.10080A>T (p.Ser3360=) c.10092A>T (p.Ser3364=) c.10071A>T (p.Ser3357=) c.9726A>T (p.Ser3242=) c.6072A>T (p.Ser2024=) c.9966A>T (p.Ser3322=) c.9957A>T (p.Ser3319=) c.9972A>T (p.Ser3324=) c.4269A>T (p.Ser1423=) | |
| X | g.31178797T>C | CA515857845 | DMD | c.4941A>G (p.Ser1647=) n.2442A>G c.891A>G (p.Ser297=) n.893A>G c.2715A>G (p.Ser905=) n.726A>G n.1612A>G n.1194A>G n.1613A>G n.3587A>G c.1950A>G (p.Ser650=) c.10095A>G (p.Ser3365=) n.461A>G c.6063A>G (p.Ser2021=) c.*97A>G (n.*97A>G) c.52A>G c.768A>G (p.Ser256=) c.603+25164A>G (n.603+25164A>G) c.834A>G (p.Ser278=) n.1025A>G c.1908A>G (p.Ser636=) c.3183A>G (p.Ser1061=) c.10083A>G (p.Ser3361=) c.465A>G (p.Ser155=) n.311A>G c.10080A>G (p.Ser3360=) c.10092A>G (p.Ser3364=) c.10071A>G (p.Ser3357=) c.9726A>G (p.Ser3242=) c.6072A>G (p.Ser2024=) c.9966A>G (p.Ser3322=) c.9957A>G (p.Ser3319=) c.9972A>G (p.Ser3324=) c.4269A>G (p.Ser1423=) | |
| X | g.31178797T>G | CA515857846 | DMD | c.4941A>C (p.Ser1647=) n.2442A>C c.891A>C (p.Ser297=) n.893A>C c.2715A>C (p.Ser905=) n.726A>C n.1612A>C n.1194A>C n.1613A>C n.3587A>C c.1950A>C (p.Ser650=) c.10095A>C (p.Ser3365=) n.461A>C c.6063A>C (p.Ser2021=) c.*97A>C (n.*97A>C) c.52A>C c.768A>C (p.Ser256=) c.603+25164A>C (n.603+25164A>C) c.834A>C (p.Ser278=) n.1025A>C c.1908A>C (p.Ser636=) c.3183A>C (p.Ser1061=) c.10083A>C (p.Ser3361=) c.465A>C (p.Ser155=) n.311A>C c.10080A>C (p.Ser3360=) c.10092A>C (p.Ser3364=) c.10071A>C (p.Ser3357=) c.9726A>C (p.Ser3242=) c.6072A>C (p.Ser2024=) c.9966A>C (p.Ser3322=) c.9957A>C (p.Ser3319=) c.9972A>C (p.Ser3324=) c.4269A>C (p.Ser1423=) |