UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31444524_31444532delinsAGGTTATAC | CA2422434043 | DMD | c.3879_3887delinsGTATAACCT (p.Pro1293=) c.1653_1661delinsGTATAACCT (p.Pro551=) n.2498_2506delinsGTATAACCT n.2525_2533delinsGTATAACCT c.888_896delinsGTATAACCT (p.Pro296=) c.9033_9041delinsGTATAACCT (p.Pro3011=) c.5001_5009delinsGTATAACCT (p.Pro1667=) n.2694_2702delinsGTATAACCT c.846_854delinsGTATAACCT (p.Pro282=) c.2121_2129delinsGTATAACCT (p.Pro707=) c.9021_9029delinsGTATAACCT (p.Pro3007=) c.9018_9026delinsGTATAACCT (p.Pro3006=) c.9030_9038delinsGTATAACCT (p.Pro3010=) c.9009_9017delinsGTATAACCT (p.Pro3003=) c.8664_8672delinsGTATAACCT (p.Pro2888=) c.5010_5018delinsGTATAACCT (p.Pro1670=) c.8904_8912delinsGTATAACCT (p.Pro2968=) c.8895_8903delinsGTATAACCT (p.Pro2965=) c.8910_8918delinsGTATAACCT (p.Pro2970=) c.3207_3215delinsGTATAACCT (p.Pro1069=) | |
| X | g.31444528_31444535del | CA915950938 | DMD | c.3879_3886del (p.Tyr1294GlnfsTer26) c.1653_1660del (p.Tyr552GlnfsTer26) n.2498_2505del n.2525_2532del c.888_895del (p.Tyr297GlnfsTer26) c.9033_9040del (p.Tyr3012GlnfsTer26) c.5001_5008del (p.Tyr1668GlnfsTer26) n.2694_2701del c.846_853del (p.Tyr283GlnfsTer26) c.2121_2128del (p.Tyr708GlnfsTer26) c.9021_9028del (p.Tyr3008GlnfsTer26) c.9018_9025del (p.Tyr3007GlnfsTer26) c.9030_9037del (p.Tyr3011GlnfsTer26) c.9009_9016del (p.Tyr3004GlnfsTer26) c.8664_8671del (p.Tyr2889GlnfsTer26) c.5010_5017del (p.Tyr1671GlnfsTer26) c.8904_8911del (p.Tyr2969GlnfsTer26) c.8895_8902del (p.Tyr2966GlnfsTer26) c.8910_8917del (p.Tyr2971GlnfsTer26) c.3207_3214del (p.Tyr1070GlnfsTer26) | ClinVar dbSNP |
| X | g.31444528_31444542dup | CA10377934 | DMD | c.3870_3884dup (p.Tyr1294_Asn1295insLysLeuSerProTyr) c.1644_1658dup (p.Tyr552_Asn553insLysLeuSerProTyr) n.2489_2503dup n.2516_2530dup c.879_893dup (p.Tyr297_Asn298insLysLeuSerProTyr) c.9024_9038dup (p.Tyr3012_Asn3013insLysLeuSerProTyr) c.4992_5006dup (p.Tyr1668_Asn1669insLysLeuSerProTyr) n.2685_2699dup c.837_851dup (p.Tyr283_Asn284insLysLeuSerProTyr) c.2112_2126dup (p.Tyr708_Asn709insLysLeuSerProTyr) c.9012_9026dup (p.Tyr3008_Asn3009insLysLeuSerProTyr) c.9009_9023dup (p.Tyr3007_Asn3008insLysLeuSerProTyr) c.9021_9035dup (p.Tyr3011_Asn3012insLysLeuSerProTyr) c.9000_9014dup (p.Tyr3004_Asn3005insLysLeuSerProTyr) c.8655_8669dup (p.Tyr2889_Asn2890insLysLeuSerProTyr) c.5001_5015dup (p.Tyr1671_Asn1672insLysLeuSerProTyr) c.8895_8909dup (p.Tyr2969_Asn2970insLysLeuSerProTyr) c.8886_8900dup (p.Tyr2966_Asn2967insLysLeuSerProTyr) c.8901_8915dup (p.Tyr2971_Asn2972insLysLeuSerProTyr) c.3198_3212dup (p.Tyr1070_Asn1071insLysLeuSerProTyr) | dbSNP ExAC |
| X | g.31444532C>A | CA515858224 | DMD | c.3879G>T (p.Pro1293=) c.1653G>T (p.Pro551=) n.2498G>T n.2525G>T c.888G>T (p.Pro296=) c.9033G>T (p.Pro3011=) c.5001G>T (p.Pro1667=) n.2694G>T c.846G>T (p.Pro282=) c.2121G>T (p.Pro707=) c.9021G>T (p.Pro3007=) c.9018G>T (p.Pro3006=) c.9030G>T (p.Pro3010=) c.9009G>T (p.Pro3003=) c.8664G>T (p.Pro2888=) c.5010G>T (p.Pro1670=) c.8904G>T (p.Pro2968=) c.8895G>T (p.Pro2965=) c.8910G>T (p.Pro2970=) c.3207G>T (p.Pro1069=) | gnomAD v4 |
| X | g.31444532C= | CA2422434047 | DMD | c.3879G= (p.Pro1293=) c.1653G= (p.Pro551=) n.2498G= n.2525G= c.888G= (p.Pro296=) c.9033G= (p.Pro3011=) c.5001G= (p.Pro1667=) n.2694G= c.846G= (p.Pro282=) c.2121G= (p.Pro707=) c.9021G= (p.Pro3007=) c.9018G= (p.Pro3006=) c.9030G= (p.Pro3010=) c.9009G= (p.Pro3003=) c.8664G= (p.Pro2888=) c.5010G= (p.Pro1670=) c.8904G= (p.Pro2968=) c.8895G= (p.Pro2965=) c.8910G= (p.Pro2970=) c.3207G= (p.Pro1069=) | |
| X | g.31444532C>G | CA515858225 | DMD | c.3879G>C (p.Pro1293=) c.1653G>C (p.Pro551=) n.2498G>C n.2525G>C c.888G>C (p.Pro296=) c.9033G>C (p.Pro3011=) c.5001G>C (p.Pro1667=) n.2694G>C c.846G>C (p.Pro282=) c.2121G>C (p.Pro707=) c.9021G>C (p.Pro3007=) c.9018G>C (p.Pro3006=) c.9030G>C (p.Pro3010=) c.9009G>C (p.Pro3003=) c.8664G>C (p.Pro2888=) c.5010G>C (p.Pro1670=) c.8904G>C (p.Pro2968=) c.8895G>C (p.Pro2965=) c.8910G>C (p.Pro2970=) c.3207G>C (p.Pro1069=) | |
| X | g.31444532C>T | CA10377935 | DMD | c.3879G>A (p.Pro1293=) c.1653G>A (p.Pro551=) n.2498G>A n.2525G>A c.888G>A (p.Pro296=) c.9033G>A (p.Pro3011=) c.5001G>A (p.Pro1667=) n.2694G>A c.846G>A (p.Pro282=) c.2121G>A (p.Pro707=) c.9021G>A (p.Pro3007=) c.9018G>A (p.Pro3006=) c.9030G>A (p.Pro3010=) c.9009G>A (p.Pro3003=) c.8664G>A (p.Pro2888=) c.5010G>A (p.Pro1670=) c.8904G>A (p.Pro2968=) c.8895G>A (p.Pro2965=) c.8910G>A (p.Pro2970=) c.3207G>A (p.Pro1069=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31444533G>A | CA246864 | DMD | c.3878C>T (p.Pro1293Leu) c.1652C>T (p.Pro551Leu) n.2497C>T n.2524C>T c.887C>T (p.Pro296Leu) c.9032C>T (p.Pro3011Leu) c.5000C>T (p.Pro1667Leu) n.2693C>T c.845C>T (p.Pro282Leu) c.2120C>T (p.Pro707Leu) c.9020C>T (p.Pro3007Leu) c.9017C>T (p.Pro3006Leu) c.9029C>T (p.Pro3010Leu) c.9008C>T (p.Pro3003Leu) c.8663C>T (p.Pro2888Leu) c.5009C>T (p.Pro1670Leu) c.8903C>T (p.Pro2968Leu) c.8894C>T (p.Pro2965Leu) c.8909C>T (p.Pro2970Leu) c.3206C>T (p.Pro1069Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31444533G>C | CA412655140 | DMD | c.3878C>G (p.Pro1293Arg) c.1652C>G (p.Pro551Arg) n.2497C>G n.2524C>G c.887C>G (p.Pro296Arg) c.9032C>G (p.Pro3011Arg) c.5000C>G (p.Pro1667Arg) n.2693C>G c.845C>G (p.Pro282Arg) c.2120C>G (p.Pro707Arg) c.9020C>G (p.Pro3007Arg) c.9017C>G (p.Pro3006Arg) c.9029C>G (p.Pro3010Arg) c.9008C>G (p.Pro3003Arg) c.8663C>G (p.Pro2888Arg) c.5009C>G (p.Pro1670Arg) c.8903C>G (p.Pro2968Arg) c.8894C>G (p.Pro2965Arg) c.8909C>G (p.Pro2970Arg) c.3206C>G (p.Pro1069Arg) | gnomAD v4 |
| X | g.31444533G= | CA2422434048 | DMD | c.3878C= (p.Pro1293=) c.1652C= (p.Pro551=) n.2497C= n.2524C= c.887C= (p.Pro296=) c.9032C= (p.Pro3011=) c.5000C= (p.Pro1667=) n.2693C= c.845C= (p.Pro282=) c.2120C= (p.Pro707=) c.9020C= (p.Pro3007=) c.9017C= (p.Pro3006=) c.9029C= (p.Pro3010=) c.9008C= (p.Pro3003=) c.8663C= (p.Pro2888=) c.5009C= (p.Pro1670=) c.8903C= (p.Pro2968=) c.8894C= (p.Pro2965=) c.8909C= (p.Pro2970=) c.3206C= (p.Pro1069=) | |
| X | g.31444533G>T | CA412655141 | DMD | c.3878C>A (p.Pro1293Gln) c.1652C>A (p.Pro551Gln) n.2497C>A n.2524C>A c.887C>A (p.Pro296Gln) c.9032C>A (p.Pro3011Gln) c.5000C>A (p.Pro1667Gln) n.2693C>A c.845C>A (p.Pro282Gln) c.2120C>A (p.Pro707Gln) c.9020C>A (p.Pro3007Gln) c.9017C>A (p.Pro3006Gln) c.9029C>A (p.Pro3010Gln) c.9008C>A (p.Pro3003Gln) c.8663C>A (p.Pro2888Gln) c.5009C>A (p.Pro1670Gln) c.8903C>A (p.Pro2968Gln) c.8894C>A (p.Pro2965Gln) c.8909C>A (p.Pro2970Gln) c.3206C>A (p.Pro1069Gln) | COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31444534G>A | CA328429788 | DMD | c.3877C>T (p.Pro1293Ser) c.1651C>T (p.Pro551Ser) n.2496C>T n.2523C>T c.886C>T (p.Pro296Ser) c.9031C>T (p.Pro3011Ser) c.4999C>T (p.Pro1667Ser) n.2692C>T c.844C>T (p.Pro282Ser) c.2119C>T (p.Pro707Ser) c.9019C>T (p.Pro3007Ser) c.9016C>T (p.Pro3006Ser) c.9028C>T (p.Pro3010Ser) c.9007C>T (p.Pro3003Ser) c.8662C>T (p.Pro2888Ser) c.5008C>T (p.Pro1670Ser) c.8902C>T (p.Pro2968Ser) c.8893C>T (p.Pro2965Ser) c.8908C>T (p.Pro2970Ser) c.3205C>T (p.Pro1069Ser) | dbSNP |
| X | g.31444534G>C | CA412655142 | DMD | c.3877C>G (p.Pro1293Ala) c.1651C>G (p.Pro551Ala) n.2496C>G n.2523C>G c.886C>G (p.Pro296Ala) c.9031C>G (p.Pro3011Ala) c.4999C>G (p.Pro1667Ala) n.2692C>G c.844C>G (p.Pro282Ala) c.2119C>G (p.Pro707Ala) c.9019C>G (p.Pro3007Ala) c.9016C>G (p.Pro3006Ala) c.9028C>G (p.Pro3010Ala) c.9007C>G (p.Pro3003Ala) c.8662C>G (p.Pro2888Ala) c.5008C>G (p.Pro1670Ala) c.8902C>G (p.Pro2968Ala) c.8893C>G (p.Pro2965Ala) c.8908C>G (p.Pro2970Ala) c.3205C>G (p.Pro1069Ala) | |
| X | g.31444534G= | CA2422434049 | DMD | c.3877C= (p.Pro1293=) c.1651C= (p.Pro551=) n.2496C= n.2523C= c.886C= (p.Pro296=) c.9031C= (p.Pro3011=) c.4999C= (p.Pro1667=) n.2692C= c.844C= (p.Pro282=) c.2119C= (p.Pro707=) c.9019C= (p.Pro3007=) c.9016C= (p.Pro3006=) c.9028C= (p.Pro3010=) c.9007C= (p.Pro3003=) c.8662C= (p.Pro2888=) c.5008C= (p.Pro1670=) c.8902C= (p.Pro2968=) c.8893C= (p.Pro2965=) c.8908C= (p.Pro2970=) c.3205C= (p.Pro1069=) | |
| X | g.31444534G>T | CA328429789 | DMD | c.3877C>A (p.Pro1293Thr) c.1651C>A (p.Pro551Thr) n.2496C>A n.2523C>A c.886C>A (p.Pro296Thr) c.9031C>A (p.Pro3011Thr) c.4999C>A (p.Pro1667Thr) n.2692C>A c.844C>A (p.Pro282Thr) c.2119C>A (p.Pro707Thr) c.9019C>A (p.Pro3007Thr) c.9016C>A (p.Pro3006Thr) c.9028C>A (p.Pro3010Thr) c.9007C>A (p.Pro3003Thr) c.8662C>A (p.Pro2888Thr) c.5008C>A (p.Pro1670Thr) c.8902C>A (p.Pro2968Thr) c.8893C>A (p.Pro2965Thr) c.8908C>A (p.Pro2970Thr) c.3205C>A (p.Pro1069Thr) | dbSNP |
| X | g.31444535T>A | CA515858227 | DMD | c.3876A>T (p.Ser1292=) c.1650A>T (p.Ser550=) n.2495A>T n.2522A>T c.885A>T (p.Ser295=) c.9030A>T (p.Ser3010=) c.4998A>T (p.Ser1666=) n.2691A>T c.843A>T (p.Ser281=) c.2118A>T (p.Ser706=) c.9018A>T (p.Ser3006=) c.9015A>T (p.Ser3005=) c.9027A>T (p.Ser3009=) c.9006A>T (p.Ser3002=) c.8661A>T (p.Ser2887=) c.5007A>T (p.Ser1669=) c.8901A>T (p.Ser2967=) c.8892A>T (p.Ser2964=) c.8907A>T (p.Ser2969=) c.3204A>T (p.Ser1068=) | ClinVar |
| X | g.31444535T>C | CA515858228 | DMD | c.3876A>G (p.Ser1292=) c.1650A>G (p.Ser550=) n.2495A>G n.2522A>G c.885A>G (p.Ser295=) c.9030A>G (p.Ser3010=) c.4998A>G (p.Ser1666=) n.2691A>G c.843A>G (p.Ser281=) c.2118A>G (p.Ser706=) c.9018A>G (p.Ser3006=) c.9015A>G (p.Ser3005=) c.9027A>G (p.Ser3009=) c.9006A>G (p.Ser3002=) c.8661A>G (p.Ser2887=) c.5007A>G (p.Ser1669=) c.8901A>G (p.Ser2967=) c.8892A>G (p.Ser2964=) c.8907A>G (p.Ser2969=) c.3204A>G (p.Ser1068=) | ClinVar |
| X | g.31444535T>G | CA515858229 | DMD | c.3876A>C (p.Ser1292=) c.1650A>C (p.Ser550=) n.2495A>C n.2522A>C c.885A>C (p.Ser295=) c.9030A>C (p.Ser3010=) c.4998A>C (p.Ser1666=) n.2691A>C c.843A>C (p.Ser281=) c.2118A>C (p.Ser706=) c.9018A>C (p.Ser3006=) c.9015A>C (p.Ser3005=) c.9027A>C (p.Ser3009=) c.9006A>C (p.Ser3002=) c.8661A>C (p.Ser2887=) c.5007A>C (p.Ser1669=) c.8901A>C (p.Ser2967=) c.8892A>C (p.Ser2964=) c.8907A>C (p.Ser2969=) c.3204A>C (p.Ser1068=) | |
| X | g.31444536G>A | CA412655143 | DMD | c.3875C>T (p.Ser1292Leu) c.1649C>T (p.Ser550Leu) n.2494C>T n.2521C>T c.884C>T (p.Ser295Leu) c.9029C>T (p.Ser3010Leu) c.4997C>T (p.Ser1666Leu) n.2690C>T c.842C>T (p.Ser281Leu) c.2117C>T (p.Ser706Leu) c.9017C>T (p.Ser3006Leu) c.9014C>T (p.Ser3005Leu) c.9026C>T (p.Ser3009Leu) c.9005C>T (p.Ser3002Leu) c.8660C>T (p.Ser2887Leu) c.5006C>T (p.Ser1669Leu) c.8900C>T (p.Ser2967Leu) c.8891C>T (p.Ser2964Leu) c.8906C>T (p.Ser2969Leu) c.3203C>T (p.Ser1068Leu) | gnomAD v4 |
| X | g.31444536G>C | CA412655145 | DMD | c.3875C>G (p.Ser1292Ter) c.1649C>G (p.Ser550Ter) n.2494C>G n.2521C>G c.884C>G (p.Ser295Ter) c.9029C>G (p.Ser3010Ter) c.4997C>G (p.Ser1666Ter) n.2690C>G c.842C>G (p.Ser281Ter) c.2117C>G (p.Ser706Ter) c.9017C>G (p.Ser3006Ter) c.9014C>G (p.Ser3005Ter) c.9026C>G (p.Ser3009Ter) c.9005C>G (p.Ser3002Ter) c.8660C>G (p.Ser2887Ter) c.5006C>G (p.Ser1669Ter) c.8900C>G (p.Ser2967Ter) c.8891C>G (p.Ser2964Ter) c.8906C>G (p.Ser2969Ter) c.3203C>G (p.Ser1068Ter) | dbSNP |
| X | g.31444536G>T | CA412655144 | DMD | c.3875C>A (p.Ser1292Ter) c.1649C>A (p.Ser550Ter) n.2494C>A n.2521C>A c.884C>A (p.Ser295Ter) c.9029C>A (p.Ser3010Ter) c.4997C>A (p.Ser1666Ter) n.2690C>A c.842C>A (p.Ser281Ter) c.2117C>A (p.Ser706Ter) c.9017C>A (p.Ser3006Ter) c.9014C>A (p.Ser3005Ter) c.9026C>A (p.Ser3009Ter) c.9005C>A (p.Ser3002Ter) c.8660C>A (p.Ser2887Ter) c.5006C>A (p.Ser1669Ter) c.8900C>A (p.Ser2967Ter) c.8891C>A (p.Ser2964Ter) c.8906C>A (p.Ser2969Ter) c.3203C>A (p.Ser1068Ter) | |
| X | g.31444537A>C | CA412655146 | DMD | c.3874T>G (p.Ser1292Ala) c.1648T>G (p.Ser550Ala) n.2493T>G n.2520T>G c.883T>G (p.Ser295Ala) c.9028T>G (p.Ser3010Ala) c.4996T>G (p.Ser1666Ala) n.2689T>G c.841T>G (p.Ser281Ala) c.2116T>G (p.Ser706Ala) c.9016T>G (p.Ser3006Ala) c.9013T>G (p.Ser3005Ala) c.9025T>G (p.Ser3009Ala) c.9004T>G (p.Ser3002Ala) c.8659T>G (p.Ser2887Ala) c.5005T>G (p.Ser1669Ala) c.8899T>G (p.Ser2967Ala) c.8890T>G (p.Ser2964Ala) c.8905T>G (p.Ser2969Ala) c.3202T>G (p.Ser1068Ala) | |
| X | g.31444537A>G | CA412655148 | DMD | c.3874T>C (p.Ser1292Pro) c.1648T>C (p.Ser550Pro) n.2493T>C n.2520T>C c.883T>C (p.Ser295Pro) c.9028T>C (p.Ser3010Pro) c.4996T>C (p.Ser1666Pro) n.2689T>C c.841T>C (p.Ser281Pro) c.2116T>C (p.Ser706Pro) c.9016T>C (p.Ser3006Pro) c.9013T>C (p.Ser3005Pro) c.9025T>C (p.Ser3009Pro) c.9004T>C (p.Ser3002Pro) c.8659T>C (p.Ser2887Pro) c.5005T>C (p.Ser1669Pro) c.8899T>C (p.Ser2967Pro) c.8890T>C (p.Ser2964Pro) c.8905T>C (p.Ser2969Pro) c.3202T>C (p.Ser1068Pro) | |
| X | g.31444537A>T | CA412655147 | DMD | c.3874T>A (p.Ser1292Thr) c.1648T>A (p.Ser550Thr) n.2493T>A n.2520T>A c.883T>A (p.Ser295Thr) c.9028T>A (p.Ser3010Thr) c.4996T>A (p.Ser1666Thr) n.2689T>A c.841T>A (p.Ser281Thr) c.2116T>A (p.Ser706Thr) c.9016T>A (p.Ser3006Thr) c.9013T>A (p.Ser3005Thr) c.9025T>A (p.Ser3009Thr) c.9004T>A (p.Ser3002Thr) c.8659T>A (p.Ser2887Thr) c.5005T>A (p.Ser1669Thr) c.8899T>A (p.Ser2967Thr) c.8890T>A (p.Ser2964Thr) c.8905T>A (p.Ser2969Thr) c.3202T>A (p.Ser1068Thr) | |
| X | g.31444538G>A | CA515858230 | DMD | c.3873C>T (p.Leu1291=) c.1647C>T (p.Leu549=) n.2492C>T n.2519C>T c.882C>T (p.Leu294=) c.9027C>T (p.Leu3009=) c.4995C>T (p.Leu1665=) n.2688C>T c.840C>T (p.Leu280=) c.2115C>T (p.Leu705=) c.9015C>T (p.Leu3005=) c.9012C>T (p.Leu3004=) c.9024C>T (p.Leu3008=) c.9003C>T (p.Leu3001=) c.8658C>T (p.Leu2886=) c.5004C>T (p.Leu1668=) c.8898C>T (p.Leu2966=) c.8889C>T (p.Leu2963=) c.8904C>T (p.Leu2968=) c.3201C>T (p.Leu1067=) | |
| X | g.31444538G>C | CA515858231 | DMD | c.3873C>G (p.Leu1291=) c.1647C>G (p.Leu549=) n.2492C>G n.2519C>G c.882C>G (p.Leu294=) c.9027C>G (p.Leu3009=) c.4995C>G (p.Leu1665=) n.2688C>G c.840C>G (p.Leu280=) c.2115C>G (p.Leu705=) c.9015C>G (p.Leu3005=) c.9012C>G (p.Leu3004=) c.9024C>G (p.Leu3008=) c.9003C>G (p.Leu3001=) c.8658C>G (p.Leu2886=) c.5004C>G (p.Leu1668=) c.8898C>G (p.Leu2966=) c.8889C>G (p.Leu2963=) c.8904C>G (p.Leu2968=) c.3201C>G (p.Leu1067=) | |
| X | g.31444538G>T | CA515858232 | DMD | c.3873C>A (p.Leu1291=) c.1647C>A (p.Leu549=) n.2492C>A n.2519C>A c.882C>A (p.Leu294=) c.9027C>A (p.Leu3009=) c.4995C>A (p.Leu1665=) n.2688C>A c.840C>A (p.Leu280=) c.2115C>A (p.Leu705=) c.9015C>A (p.Leu3005=) c.9012C>A (p.Leu3004=) c.9024C>A (p.Leu3008=) c.9003C>A (p.Leu3001=) c.8658C>A (p.Leu2886=) c.5004C>A (p.Leu1668=) c.8898C>A (p.Leu2966=) c.8889C>A (p.Leu2963=) c.8904C>A (p.Leu2968=) c.3201C>A (p.Leu1067=) | |
| X | g.31444539A>C | CA412655149 | DMD | c.3872T>G (p.Leu1291Arg) c.1646T>G (p.Leu549Arg) n.2491T>G n.2518T>G c.881T>G (p.Leu294Arg) c.9026T>G (p.Leu3009Arg) c.4994T>G (p.Leu1665Arg) n.2687T>G c.839T>G (p.Leu280Arg) c.2114T>G (p.Leu705Arg) c.9014T>G (p.Leu3005Arg) c.9011T>G (p.Leu3004Arg) c.9023T>G (p.Leu3008Arg) c.9002T>G (p.Leu3001Arg) c.8657T>G (p.Leu2886Arg) c.5003T>G (p.Leu1668Arg) c.8897T>G (p.Leu2966Arg) c.8888T>G (p.Leu2963Arg) c.8903T>G (p.Leu2968Arg) c.3200T>G (p.Leu1067Arg) | |
| X | g.31444539A>G | CA412655150 | DMD | c.3872T>C (p.Leu1291Pro) c.1646T>C (p.Leu549Pro) n.2491T>C n.2518T>C c.881T>C (p.Leu294Pro) c.9026T>C (p.Leu3009Pro) c.4994T>C (p.Leu1665Pro) n.2687T>C c.839T>C (p.Leu280Pro) c.2114T>C (p.Leu705Pro) c.9014T>C (p.Leu3005Pro) c.9011T>C (p.Leu3004Pro) c.9023T>C (p.Leu3008Pro) c.9002T>C (p.Leu3001Pro) c.8657T>C (p.Leu2886Pro) c.5003T>C (p.Leu1668Pro) c.8897T>C (p.Leu2966Pro) c.8888T>C (p.Leu2963Pro) c.8903T>C (p.Leu2968Pro) c.3200T>C (p.Leu1067Pro) | |
| X | g.31444539A>T | CA412655151 | DMD | c.3872T>A (p.Leu1291His) c.1646T>A (p.Leu549His) n.2491T>A n.2518T>A c.881T>A (p.Leu294His) c.9026T>A (p.Leu3009His) c.4994T>A (p.Leu1665His) n.2687T>A c.839T>A (p.Leu280His) c.2114T>A (p.Leu705His) c.9014T>A (p.Leu3005His) c.9011T>A (p.Leu3004His) c.9023T>A (p.Leu3008His) c.9002T>A (p.Leu3001His) c.8657T>A (p.Leu2886His) c.5003T>A (p.Leu1668His) c.8897T>A (p.Leu2966His) c.8888T>A (p.Leu2963His) c.8903T>A (p.Leu2968His) c.3200T>A (p.Leu1067His) | gnomAD v4 |
| X | g.31444540G>A | CA412655152 | DMD | c.3871C>T (p.Leu1291Phe) c.1645C>T (p.Leu549Phe) n.2490C>T n.2517C>T c.880C>T (p.Leu294Phe) c.9025C>T (p.Leu3009Phe) c.4993C>T (p.Leu1665Phe) n.2686C>T c.838C>T (p.Leu280Phe) c.2113C>T (p.Leu705Phe) c.9013C>T (p.Leu3005Phe) c.9010C>T (p.Leu3004Phe) c.9022C>T (p.Leu3008Phe) c.9001C>T (p.Leu3001Phe) c.8656C>T (p.Leu2886Phe) c.5002C>T (p.Leu1668Phe) c.8896C>T (p.Leu2966Phe) c.8887C>T (p.Leu2963Phe) c.8902C>T (p.Leu2968Phe) c.3199C>T (p.Leu1067Phe) | |
| X | g.31444540G>C | CA412655153 | DMD | c.3871C>G (p.Leu1291Val) c.1645C>G (p.Leu549Val) n.2490C>G n.2517C>G c.880C>G (p.Leu294Val) c.9025C>G (p.Leu3009Val) c.4993C>G (p.Leu1665Val) n.2686C>G c.838C>G (p.Leu280Val) c.2113C>G (p.Leu705Val) c.9013C>G (p.Leu3005Val) c.9010C>G (p.Leu3004Val) c.9022C>G (p.Leu3008Val) c.9001C>G (p.Leu3001Val) c.8656C>G (p.Leu2886Val) c.5002C>G (p.Leu1668Val) c.8896C>G (p.Leu2966Val) c.8887C>G (p.Leu2963Val) c.8902C>G (p.Leu2968Val) c.3199C>G (p.Leu1067Val) | |
| X | g.31444540G>T | CA412655154 | DMD | c.3871C>A (p.Leu1291Ile) c.1645C>A (p.Leu549Ile) n.2490C>A n.2517C>A c.880C>A (p.Leu294Ile) c.9025C>A (p.Leu3009Ile) c.4993C>A (p.Leu1665Ile) n.2686C>A c.838C>A (p.Leu280Ile) c.2113C>A (p.Leu705Ile) c.9013C>A (p.Leu3005Ile) c.9010C>A (p.Leu3004Ile) c.9022C>A (p.Leu3008Ile) c.9001C>A (p.Leu3001Ile) c.8656C>A (p.Leu2886Ile) c.5002C>A (p.Leu1668Ile) c.8896C>A (p.Leu2966Ile) c.8887C>A (p.Leu2963Ile) c.8902C>A (p.Leu2968Ile) c.3199C>A (p.Leu1067Ile) | ClinVar dbSNP gnomAD v4 |
| X | g.31444541C>A | CA412655155 | DMD | c.3870G>T (p.Gln1290His) c.1644G>T (p.Gln548His) n.2489G>T n.2516G>T c.879G>T (p.Gln293His) c.9024G>T (p.Gln3008His) c.4992G>T (p.Gln1664His) n.2685G>T c.837G>T (p.Gln279His) c.2112G>T (p.Gln704His) c.9012G>T (p.Gln3004His) c.9009G>T (p.Gln3003His) c.9021G>T (p.Gln3007His) c.9000G>T (p.Gln3000His) c.8655G>T (p.Gln2885His) c.5001G>T (p.Gln1667His) c.8895G>T (p.Gln2965His) c.8886G>T (p.Gln2962His) c.8901G>T (p.Gln2967His) c.3198G>T (p.Gln1066His) | |
| X | g.31444541C>G | CA412655156 | DMD | c.3870G>C (p.Gln1290His) c.1644G>C (p.Gln548His) n.2489G>C n.2516G>C c.879G>C (p.Gln293His) c.9024G>C (p.Gln3008His) c.4992G>C (p.Gln1664His) n.2685G>C c.837G>C (p.Gln279His) c.2112G>C (p.Gln704His) c.9012G>C (p.Gln3004His) c.9009G>C (p.Gln3003His) c.9021G>C (p.Gln3007His) c.9000G>C (p.Gln3000His) c.8655G>C (p.Gln2885His) c.5001G>C (p.Gln1667His) c.8895G>C (p.Gln2965His) c.8886G>C (p.Gln2962His) c.8901G>C (p.Gln2967His) c.3198G>C (p.Gln1066His) | |
| X | g.31444541C>T | CA515858235 | DMD | c.3870G>A (p.Gln1290=) c.1644G>A (p.Gln548=) n.2489G>A n.2516G>A c.879G>A (p.Gln293=) c.9024G>A (p.Gln3008=) c.4992G>A (p.Gln1664=) n.2685G>A c.837G>A (p.Gln279=) c.2112G>A (p.Gln704=) c.9012G>A (p.Gln3004=) c.9009G>A (p.Gln3003=) c.9021G>A (p.Gln3007=) c.9000G>A (p.Gln3000=) c.8655G>A (p.Gln2885=) c.5001G>A (p.Gln1667=) c.8895G>A (p.Gln2965=) c.8886G>A (p.Gln2962=) c.8901G>A (p.Gln2967=) c.3198G>A (p.Gln1066=) | gnomAD v4 |
| X | g.31444542T>A | CA412655157 | DMD | c.3869A>T (p.Gln1290Leu) c.1643A>T (p.Gln548Leu) n.2488A>T n.2515A>T c.878A>T (p.Gln293Leu) c.9023A>T (p.Gln3008Leu) c.4991A>T (p.Gln1664Leu) n.2684A>T c.836A>T (p.Gln279Leu) c.2111A>T (p.Gln704Leu) c.9011A>T (p.Gln3004Leu) c.9008A>T (p.Gln3003Leu) c.9020A>T (p.Gln3007Leu) c.8999A>T (p.Gln3000Leu) c.8654A>T (p.Gln2885Leu) c.5000A>T (p.Gln1667Leu) c.8894A>T (p.Gln2965Leu) c.8885A>T (p.Gln2962Leu) c.8900A>T (p.Gln2967Leu) c.3197A>T (p.Gln1066Leu) | |
| X | g.31444542T>C | CA412655158 | DMD | c.3869A>G (p.Gln1290Arg) c.1643A>G (p.Gln548Arg) n.2488A>G n.2515A>G c.878A>G (p.Gln293Arg) c.9023A>G (p.Gln3008Arg) c.4991A>G (p.Gln1664Arg) n.2684A>G c.836A>G (p.Gln279Arg) c.2111A>G (p.Gln704Arg) c.9011A>G (p.Gln3004Arg) c.9008A>G (p.Gln3003Arg) c.9020A>G (p.Gln3007Arg) c.8999A>G (p.Gln3000Arg) c.8654A>G (p.Gln2885Arg) c.5000A>G (p.Gln1667Arg) c.8894A>G (p.Gln2965Arg) c.8885A>G (p.Gln2962Arg) c.8900A>G (p.Gln2967Arg) c.3197A>G (p.Gln1066Arg) | gnomAD v4 |
| X | g.31444542T>G | CA412655159 | DMD | c.3869A>C (p.Gln1290Pro) c.1643A>C (p.Gln548Pro) n.2488A>C n.2515A>C c.878A>C (p.Gln293Pro) c.9023A>C (p.Gln3008Pro) c.4991A>C (p.Gln1664Pro) n.2684A>C c.836A>C (p.Gln279Pro) c.2111A>C (p.Gln704Pro) c.9011A>C (p.Gln3004Pro) c.9008A>C (p.Gln3003Pro) c.9020A>C (p.Gln3007Pro) c.8999A>C (p.Gln3000Pro) c.8654A>C (p.Gln2885Pro) c.5000A>C (p.Gln1667Pro) c.8894A>C (p.Gln2965Pro) c.8885A>C (p.Gln2962Pro) c.8900A>C (p.Gln2967Pro) c.3197A>C (p.Gln1066Pro) | |
| X | g.31444543G>A | CA412655162 | DMD | c.3868C>T (p.Gln1290Ter) c.1642C>T (p.Gln548Ter) n.2487C>T n.2514C>T c.877C>T (p.Gln293Ter) c.9022C>T (p.Gln3008Ter) c.4990C>T (p.Gln1664Ter) n.2683C>T c.835C>T (p.Gln279Ter) c.2110C>T (p.Gln704Ter) c.9010C>T (p.Gln3004Ter) c.9007C>T (p.Gln3003Ter) c.9019C>T (p.Gln3007Ter) c.8998C>T (p.Gln3000Ter) c.8653C>T (p.Gln2885Ter) c.4999C>T (p.Gln1667Ter) c.8893C>T (p.Gln2965Ter) c.8884C>T (p.Gln2962Ter) c.8899C>T (p.Gln2967Ter) c.3196C>T (p.Gln1066Ter) | ClinVar dbSNP |
| X | g.31444543G>C | CA412655160 | DMD | c.3868C>G (p.Gln1290Glu) c.1642C>G (p.Gln548Glu) n.2487C>G n.2514C>G c.877C>G (p.Gln293Glu) c.9022C>G (p.Gln3008Glu) c.4990C>G (p.Gln1664Glu) n.2683C>G c.835C>G (p.Gln279Glu) c.2110C>G (p.Gln704Glu) c.9010C>G (p.Gln3004Glu) c.9007C>G (p.Gln3003Glu) c.9019C>G (p.Gln3007Glu) c.8998C>G (p.Gln3000Glu) c.8653C>G (p.Gln2885Glu) c.4999C>G (p.Gln1667Glu) c.8893C>G (p.Gln2965Glu) c.8884C>G (p.Gln2962Glu) c.8899C>G (p.Gln2967Glu) c.3196C>G (p.Gln1066Glu) | |
| X | g.31444543G= | CA2422434050 | DMD | c.3868C= (p.Gln1290=) c.1642C= (p.Gln548=) n.2487C= n.2514C= c.877C= (p.Gln293=) c.9022C= (p.Gln3008=) c.4990C= (p.Gln1664=) n.2683C= c.835C= (p.Gln279=) c.2110C= (p.Gln704=) c.9010C= (p.Gln3004=) c.9007C= (p.Gln3003=) c.9019C= (p.Gln3007=) c.8998C= (p.Gln3000=) c.8653C= (p.Gln2885=) c.4999C= (p.Gln1667=) c.8893C= (p.Gln2965=) c.8884C= (p.Gln2962=) c.8899C= (p.Gln2967=) c.3196C= (p.Gln1066=) | |
| X | g.31444543G>T | CA412655161 | DMD | c.3868C>A (p.Gln1290Lys) c.1642C>A (p.Gln548Lys) n.2487C>A n.2514C>A c.877C>A (p.Gln293Lys) c.9022C>A (p.Gln3008Lys) c.4990C>A (p.Gln1664Lys) n.2683C>A c.835C>A (p.Gln279Lys) c.2110C>A (p.Gln704Lys) c.9010C>A (p.Gln3004Lys) c.9007C>A (p.Gln3003Lys) c.9019C>A (p.Gln3007Lys) c.8998C>A (p.Gln3000Lys) c.8653C>A (p.Gln2885Lys) c.4999C>A (p.Gln1667Lys) c.8893C>A (p.Gln2965Lys) c.8884C>A (p.Gln2962Lys) c.8899C>A (p.Gln2967Lys) c.3196C>A (p.Gln1066Lys) | |
| X | g.31444544A>C | CA412655163 | DMD | c.3867T>G (p.Ile1289Met) c.1641T>G (p.Ile547Met) n.2486T>G n.2513T>G c.876T>G (p.Ile292Met) c.9021T>G (p.Ile3007Met) c.4989T>G (p.Ile1663Met) n.2682T>G c.834T>G (p.Ile278Met) c.2109T>G (p.Ile703Met) c.9009T>G (p.Ile3003Met) c.9006T>G (p.Ile3002Met) c.9018T>G (p.Ile3006Met) c.8997T>G (p.Ile2999Met) c.8652T>G (p.Ile2884Met) c.4998T>G (p.Ile1666Met) c.8892T>G (p.Ile2964Met) c.8883T>G (p.Ile2961Met) c.8898T>G (p.Ile2966Met) c.3195T>G (p.Ile1065Met) | |
| X | g.31444544A>G | CA515858237 | DMD | c.3867T>C (p.Ile1289=) c.1641T>C (p.Ile547=) n.2486T>C n.2513T>C c.876T>C (p.Ile292=) c.9021T>C (p.Ile3007=) c.4989T>C (p.Ile1663=) n.2682T>C c.834T>C (p.Ile278=) c.2109T>C (p.Ile703=) c.9009T>C (p.Ile3003=) c.9006T>C (p.Ile3002=) c.9018T>C (p.Ile3006=) c.8997T>C (p.Ile2999=) c.8652T>C (p.Ile2884=) c.4998T>C (p.Ile1666=) c.8892T>C (p.Ile2964=) c.8883T>C (p.Ile2961=) c.8898T>C (p.Ile2966=) c.3195T>C (p.Ile1065=) | |
| X | g.31444544A>T | CA515858238 | DMD | c.3867T>A (p.Ile1289=) c.1641T>A (p.Ile547=) n.2486T>A n.2513T>A c.876T>A (p.Ile292=) c.9021T>A (p.Ile3007=) c.4989T>A (p.Ile1663=) n.2682T>A c.834T>A (p.Ile278=) c.2109T>A (p.Ile703=) c.9009T>A (p.Ile3003=) c.9006T>A (p.Ile3002=) c.9018T>A (p.Ile3006=) c.8997T>A (p.Ile2999=) c.8652T>A (p.Ile2884=) c.4998T>A (p.Ile1666=) c.8892T>A (p.Ile2964=) c.8883T>A (p.Ile2961=) c.8898T>A (p.Ile2966=) c.3195T>A (p.Ile1065=) | |
| X | g.31444545del | CA2573055259 | DMD | c.3867del (p.Gln1290SerfsTer13) c.1641del (p.Gln548SerfsTer13) n.2486del n.2513del c.876del (p.Gln293SerfsTer13) c.9021del (p.Gln3008SerfsTer13) c.4989del (p.Gln1664SerfsTer13) n.2682del c.834del (p.Gln279SerfsTer13) c.2109del (p.Gln704SerfsTer13) c.9009del (p.Gln3004SerfsTer13) c.9006del (p.Gln3003SerfsTer13) c.9018del (p.Gln3007SerfsTer13) c.8997del (p.Gln3000SerfsTer13) c.8652del (p.Gln2885SerfsTer13) c.4998del (p.Gln1667SerfsTer13) c.8892del (p.Gln2965SerfsTer13) c.8883del (p.Gln2962SerfsTer13) c.8898del (p.Gln2967SerfsTer13) c.3195del (p.Gln1066SerfsTer13) | dbSNP |
| X | g.31444545A>C | CA412655164 | DMD | c.3866T>G (p.Ile1289Ser) c.1640T>G (p.Ile547Ser) n.2485T>G n.2512T>G c.875T>G (p.Ile292Ser) c.9020T>G (p.Ile3007Ser) c.4988T>G (p.Ile1663Ser) n.2681T>G c.833T>G (p.Ile278Ser) c.2108T>G (p.Ile703Ser) c.9008T>G (p.Ile3003Ser) c.9005T>G (p.Ile3002Ser) c.9017T>G (p.Ile3006Ser) c.8996T>G (p.Ile2999Ser) c.8651T>G (p.Ile2884Ser) c.4997T>G (p.Ile1666Ser) c.8891T>G (p.Ile2964Ser) c.8882T>G (p.Ile2961Ser) c.8897T>G (p.Ile2966Ser) c.3194T>G (p.Ile1065Ser) | |
| X | g.31444545A>G | CA412655165 | DMD | c.3866T>C (p.Ile1289Thr) c.1640T>C (p.Ile547Thr) n.2485T>C n.2512T>C c.875T>C (p.Ile292Thr) c.9020T>C (p.Ile3007Thr) c.4988T>C (p.Ile1663Thr) n.2681T>C c.833T>C (p.Ile278Thr) c.2108T>C (p.Ile703Thr) c.9008T>C (p.Ile3003Thr) c.9005T>C (p.Ile3002Thr) c.9017T>C (p.Ile3006Thr) c.8996T>C (p.Ile2999Thr) c.8651T>C (p.Ile2884Thr) c.4997T>C (p.Ile1666Thr) c.8891T>C (p.Ile2964Thr) c.8882T>C (p.Ile2961Thr) c.8897T>C (p.Ile2966Thr) c.3194T>C (p.Ile1065Thr) | |
| X | g.31444545A>T | CA412655166 | DMD | c.3866T>A (p.Ile1289Asn) c.1640T>A (p.Ile547Asn) n.2485T>A n.2512T>A c.875T>A (p.Ile292Asn) c.9020T>A (p.Ile3007Asn) c.4988T>A (p.Ile1663Asn) n.2681T>A c.833T>A (p.Ile278Asn) c.2108T>A (p.Ile703Asn) c.9008T>A (p.Ile3003Asn) c.9005T>A (p.Ile3002Asn) c.9017T>A (p.Ile3006Asn) c.8996T>A (p.Ile2999Asn) c.8651T>A (p.Ile2884Asn) c.4997T>A (p.Ile1666Asn) c.8891T>A (p.Ile2964Asn) c.8882T>A (p.Ile2961Asn) c.8897T>A (p.Ile2966Asn) c.3194T>A (p.Ile1065Asn) |