| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31444521C>A | CA412655113 | DMD | c.3890G>T (p.Ser1297Ile) c.1664G>T (p.Ser555Ile) n.2509G>T n.2536G>T c.899G>T (p.Ser300Ile) c.9044G>T (p.Ser3015Ile) c.5012G>T (p.Ser1671Ile) n.2705G>T c.857G>T (p.Ser286Ile) c.2132G>T (p.Ser711Ile) c.9032G>T (p.Ser3011Ile) c.9029G>T (p.Ser3010Ile) c.9041G>T (p.Ser3014Ile) c.9020G>T (p.Ser3007Ile) c.8675G>T (p.Ser2892Ile) c.5021G>T (p.Ser1674Ile) c.8915G>T (p.Ser2972Ile) c.8906G>T (p.Ser2969Ile) c.8921G>T (p.Ser2974Ile) c.3218G>T (p.Ser1073Ile) | |
| X | g.31444521C>G | CA412655114 | DMD | c.3890G>C (p.Ser1297Thr) c.1664G>C (p.Ser555Thr) n.2509G>C n.2536G>C c.899G>C (p.Ser300Thr) c.9044G>C (p.Ser3015Thr) c.5012G>C (p.Ser1671Thr) n.2705G>C c.857G>C (p.Ser286Thr) c.2132G>C (p.Ser711Thr) c.9032G>C (p.Ser3011Thr) c.9029G>C (p.Ser3010Thr) c.9041G>C (p.Ser3014Thr) c.9020G>C (p.Ser3007Thr) c.8675G>C (p.Ser2892Thr) c.5021G>C (p.Ser1674Thr) c.8915G>C (p.Ser2972Thr) c.8906G>C (p.Ser2969Thr) c.8921G>C (p.Ser2974Thr) c.3218G>C (p.Ser1073Thr) | |
| X | g.31444521C>T | CA412655115 | DMD | c.3890G>A (p.Ser1297Asn) c.1664G>A (p.Ser555Asn) n.2509G>A n.2536G>A c.899G>A (p.Ser300Asn) c.9044G>A (p.Ser3015Asn) c.5012G>A (p.Ser1671Asn) n.2705G>A c.857G>A (p.Ser286Asn) c.2132G>A (p.Ser711Asn) c.9032G>A (p.Ser3011Asn) c.9029G>A (p.Ser3010Asn) c.9041G>A (p.Ser3014Asn) c.9020G>A (p.Ser3007Asn) c.8675G>A (p.Ser2892Asn) c.5021G>A (p.Ser1674Asn) c.8915G>A (p.Ser2972Asn) c.8906G>A (p.Ser2969Asn) c.8921G>A (p.Ser2974Asn) c.3218G>A (p.Ser1073Asn) | |
| X | g.31444522T>A | CA412655116 | DMD | c.3889A>T (p.Ser1297Cys) c.1663A>T (p.Ser555Cys) n.2508A>T n.2535A>T c.898A>T (p.Ser300Cys) c.9043A>T (p.Ser3015Cys) c.5011A>T (p.Ser1671Cys) n.2704A>T c.856A>T (p.Ser286Cys) c.2131A>T (p.Ser711Cys) c.9031A>T (p.Ser3011Cys) c.9028A>T (p.Ser3010Cys) c.9040A>T (p.Ser3014Cys) c.9019A>T (p.Ser3007Cys) c.8674A>T (p.Ser2892Cys) c.5020A>T (p.Ser1674Cys) c.8914A>T (p.Ser2972Cys) c.8905A>T (p.Ser2969Cys) c.8920A>T (p.Ser2974Cys) c.3217A>T (p.Ser1073Cys) | |
| X | g.31444522T>C | CA412655118 | DMD | c.3889A>G (p.Ser1297Gly) c.1663A>G (p.Ser555Gly) n.2508A>G n.2535A>G c.898A>G (p.Ser300Gly) c.9043A>G (p.Ser3015Gly) c.5011A>G (p.Ser1671Gly) n.2704A>G c.856A>G (p.Ser286Gly) c.2131A>G (p.Ser711Gly) c.9031A>G (p.Ser3011Gly) c.9028A>G (p.Ser3010Gly) c.9040A>G (p.Ser3014Gly) c.9019A>G (p.Ser3007Gly) c.8674A>G (p.Ser2892Gly) c.5020A>G (p.Ser1674Gly) c.8914A>G (p.Ser2972Gly) c.8905A>G (p.Ser2969Gly) c.8920A>G (p.Ser2974Gly) c.3217A>G (p.Ser1073Gly) | |
| X | g.31444522T>G | CA412655117 | DMD | c.3889A>C (p.Ser1297Arg) c.1663A>C (p.Ser555Arg) n.2508A>C n.2535A>C c.898A>C (p.Ser300Arg) c.9043A>C (p.Ser3015Arg) c.5011A>C (p.Ser1671Arg) n.2704A>C c.856A>C (p.Ser286Arg) c.2131A>C (p.Ser711Arg) c.9031A>C (p.Ser3011Arg) c.9028A>C (p.Ser3010Arg) c.9040A>C (p.Ser3014Arg) c.9019A>C (p.Ser3007Arg) c.8674A>C (p.Ser2892Arg) c.5020A>C (p.Ser1674Arg) c.8914A>C (p.Ser2972Arg) c.8905A>C (p.Ser2969Arg) c.8920A>C (p.Ser2974Arg) c.3217A>C (p.Ser1073Arg) | |
| X | g.31444523G>A | CA515858217 | DMD | c.3888C>T (p.Leu1296=) c.1662C>T (p.Leu554=) n.2507C>T n.2534C>T c.897C>T (p.Leu299=) c.9042C>T (p.Leu3014=) c.5010C>T (p.Leu1670=) n.2703C>T c.855C>T (p.Leu285=) c.2130C>T (p.Leu710=) c.9030C>T (p.Leu3010=) c.9027C>T (p.Leu3009=) c.9039C>T (p.Leu3013=) c.9018C>T (p.Leu3006=) c.8673C>T (p.Leu2891=) c.5019C>T (p.Leu1673=) c.8913C>T (p.Leu2971=) c.8904C>T (p.Leu2968=) c.8919C>T (p.Leu2973=) c.3216C>T (p.Leu1072=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.31444523G>C | CA515858218 | DMD | c.3888C>G (p.Leu1296=) c.1662C>G (p.Leu554=) n.2507C>G n.2534C>G c.897C>G (p.Leu299=) c.9042C>G (p.Leu3014=) c.5010C>G (p.Leu1670=) n.2703C>G c.855C>G (p.Leu285=) c.2130C>G (p.Leu710=) c.9030C>G (p.Leu3010=) c.9027C>G (p.Leu3009=) c.9039C>G (p.Leu3013=) c.9018C>G (p.Leu3006=) c.8673C>G (p.Leu2891=) c.5019C>G (p.Leu1673=) c.8913C>G (p.Leu2971=) c.8904C>G (p.Leu2968=) c.8919C>G (p.Leu2973=) c.3216C>G (p.Leu1072=) | |
| X | g.31444523G= | CA2422434041 | DMD | c.3888C= (p.Leu1296=) c.1662C= (p.Leu554=) n.2507C= n.2534C= c.897C= (p.Leu299=) c.9042C= (p.Leu3014=) c.5010C= (p.Leu1670=) n.2703C= c.855C= (p.Leu285=) c.2130C= (p.Leu710=) c.9030C= (p.Leu3010=) c.9027C= (p.Leu3009=) c.9039C= (p.Leu3013=) c.9018C= (p.Leu3006=) c.8673C= (p.Leu2891=) c.5019C= (p.Leu1673=) c.8913C= (p.Leu2971=) c.8904C= (p.Leu2968=) c.8919C= (p.Leu2973=) c.3216C= (p.Leu1072=) | |
| X | g.31444523G>T | CA515858219 | DMD | c.3888C>A (p.Leu1296=) c.1662C>A (p.Leu554=) n.2507C>A n.2534C>A c.897C>A (p.Leu299=) c.9042C>A (p.Leu3014=) c.5010C>A (p.Leu1670=) n.2703C>A c.855C>A (p.Leu285=) c.2130C>A (p.Leu710=) c.9030C>A (p.Leu3010=) c.9027C>A (p.Leu3009=) c.9039C>A (p.Leu3013=) c.9018C>A (p.Leu3006=) c.8673C>A (p.Leu2891=) c.5019C>A (p.Leu1673=) c.8913C>A (p.Leu2971=) c.8904C>A (p.Leu2968=) c.8919C>A (p.Leu2973=) c.3216C>A (p.Leu1072=) | |
| X | g.31444524A= | CA2422434042 | DMD | c.3887T= (p.Leu1296=) c.1661T= (p.Leu554=) n.2506T= n.2533T= c.896T= (p.Leu299=) c.9041T= (p.Leu3014=) c.5009T= (p.Leu1670=) n.2702T= c.854T= (p.Leu285=) c.2129T= (p.Leu710=) c.9029T= (p.Leu3010=) c.9026T= (p.Leu3009=) c.9038T= (p.Leu3013=) c.9017T= (p.Leu3006=) c.8672T= (p.Leu2891=) c.5018T= (p.Leu1673=) c.8912T= (p.Leu2971=) c.8903T= (p.Leu2968=) c.8918T= (p.Leu2973=) c.3215T= (p.Leu1072=) | |
| X | g.31444524A>C | CA412655119 | DMD | c.3887T>G (p.Leu1296Arg) c.1661T>G (p.Leu554Arg) n.2506T>G n.2533T>G c.896T>G (p.Leu299Arg) c.9041T>G (p.Leu3014Arg) c.5009T>G (p.Leu1670Arg) n.2702T>G c.854T>G (p.Leu285Arg) c.2129T>G (p.Leu710Arg) c.9029T>G (p.Leu3010Arg) c.9026T>G (p.Leu3009Arg) c.9038T>G (p.Leu3013Arg) c.9017T>G (p.Leu3006Arg) c.8672T>G (p.Leu2891Arg) c.5018T>G (p.Leu1673Arg) c.8912T>G (p.Leu2971Arg) c.8903T>G (p.Leu2968Arg) c.8918T>G (p.Leu2973Arg) c.3215T>G (p.Leu1072Arg) | |
| X | g.31444524A>G | CA412655120 | DMD | c.3887T>C (p.Leu1296Pro) c.1661T>C (p.Leu554Pro) n.2506T>C n.2533T>C c.896T>C (p.Leu299Pro) c.9041T>C (p.Leu3014Pro) c.5009T>C (p.Leu1670Pro) n.2702T>C c.854T>C (p.Leu285Pro) c.2129T>C (p.Leu710Pro) c.9029T>C (p.Leu3010Pro) c.9026T>C (p.Leu3009Pro) c.9038T>C (p.Leu3013Pro) c.9017T>C (p.Leu3006Pro) c.8672T>C (p.Leu2891Pro) c.5018T>C (p.Leu1673Pro) c.8912T>C (p.Leu2971Pro) c.8903T>C (p.Leu2968Pro) c.8918T>C (p.Leu2973Pro) c.3215T>C (p.Leu1072Pro) | |
| X | g.31444524A>T | CA412655121 | DMD | c.3887T>A (p.Leu1296His) c.1661T>A (p.Leu554His) n.2506T>A n.2533T>A c.896T>A (p.Leu299His) c.9041T>A (p.Leu3014His) c.5009T>A (p.Leu1670His) n.2702T>A c.854T>A (p.Leu285His) c.2129T>A (p.Leu710His) c.9029T>A (p.Leu3010His) c.9026T>A (p.Leu3009His) c.9038T>A (p.Leu3013His) c.9017T>A (p.Leu3006His) c.8672T>A (p.Leu2891His) c.5018T>A (p.Leu1673His) c.8912T>A (p.Leu2971His) c.8903T>A (p.Leu2968His) c.8918T>A (p.Leu2973His) c.3215T>A (p.Leu1072His) | |
| X | g.31444525_31444531del | CA2573055258 | DMD | c.3881_3887del (p.Tyr1294SerfsTer7) c.1655_1661del (p.Tyr552SerfsTer7) n.2500_2506del n.2527_2533del c.890_896del (p.Tyr297SerfsTer7) c.9035_9041del (p.Tyr3012SerfsTer7) c.5003_5009del (p.Tyr1668SerfsTer7) n.2696_2702del c.848_854del (p.Tyr283SerfsTer7) c.2123_2129del (p.Tyr708SerfsTer7) c.9023_9029del (p.Tyr3008SerfsTer7) c.9020_9026del (p.Tyr3007SerfsTer7) c.9032_9038del (p.Tyr3011SerfsTer7) c.9011_9017del (p.Tyr3004SerfsTer7) c.8666_8672del (p.Tyr2889SerfsTer7) c.5012_5018del (p.Tyr1671SerfsTer7) c.8906_8912del (p.Tyr2969SerfsTer7) c.8897_8903del (p.Tyr2966SerfsTer7) c.8912_8918del (p.Tyr2971SerfsTer7) c.3209_3215del (p.Tyr1070SerfsTer7) | dbSNP |
| 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.31444525G>A | CA10377933 | DMD | c.3886C>T (p.Leu1296Phe) c.1660C>T (p.Leu554Phe) n.2505C>T n.2532C>T c.895C>T (p.Leu299Phe) c.9040C>T (p.Leu3014Phe) c.5008C>T (p.Leu1670Phe) n.2701C>T c.853C>T (p.Leu285Phe) c.2128C>T (p.Leu710Phe) c.9028C>T (p.Leu3010Phe) c.9025C>T (p.Leu3009Phe) c.9037C>T (p.Leu3013Phe) c.9016C>T (p.Leu3006Phe) c.8671C>T (p.Leu2891Phe) c.5017C>T (p.Leu1673Phe) c.8911C>T (p.Leu2971Phe) c.8902C>T (p.Leu2968Phe) c.8917C>T (p.Leu2973Phe) c.3214C>T (p.Leu1072Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.31444525G>C | CA412655122 | DMD | c.3886C>G (p.Leu1296Val) c.1660C>G (p.Leu554Val) n.2505C>G n.2532C>G c.895C>G (p.Leu299Val) c.9040C>G (p.Leu3014Val) c.5008C>G (p.Leu1670Val) n.2701C>G c.853C>G (p.Leu285Val) c.2128C>G (p.Leu710Val) c.9028C>G (p.Leu3010Val) c.9025C>G (p.Leu3009Val) c.9037C>G (p.Leu3013Val) c.9016C>G (p.Leu3006Val) c.8671C>G (p.Leu2891Val) c.5017C>G (p.Leu1673Val) c.8911C>G (p.Leu2971Val) c.8902C>G (p.Leu2968Val) c.8917C>G (p.Leu2973Val) c.3214C>G (p.Leu1072Val) | |
| X | g.31444525G= | CA2422434044 | DMD | c.3886C= (p.Leu1296=) c.1660C= (p.Leu554=) n.2505C= n.2532C= c.895C= (p.Leu299=) c.9040C= (p.Leu3014=) c.5008C= (p.Leu1670=) n.2701C= c.853C= (p.Leu285=) c.2128C= (p.Leu710=) c.9028C= (p.Leu3010=) c.9025C= (p.Leu3009=) c.9037C= (p.Leu3013=) c.9016C= (p.Leu3006=) c.8671C= (p.Leu2891=) c.5017C= (p.Leu1673=) c.8911C= (p.Leu2971=) c.8902C= (p.Leu2968=) c.8917C= (p.Leu2973=) c.3214C= (p.Leu1072=) | |
| X | g.31444525G>T | CA412655123 | DMD | c.3886C>A (p.Leu1296Ile) c.1660C>A (p.Leu554Ile) n.2505C>A n.2532C>A c.895C>A (p.Leu299Ile) c.9040C>A (p.Leu3014Ile) c.5008C>A (p.Leu1670Ile) n.2701C>A c.853C>A (p.Leu285Ile) c.2128C>A (p.Leu710Ile) c.9028C>A (p.Leu3010Ile) c.9025C>A (p.Leu3009Ile) c.9037C>A (p.Leu3013Ile) c.9016C>A (p.Leu3006Ile) c.8671C>A (p.Leu2891Ile) c.5017C>A (p.Leu1673Ile) c.8911C>A (p.Leu2971Ile) c.8902C>A (p.Leu2968Ile) c.8917C>A (p.Leu2973Ile) c.3214C>A (p.Leu1072Ile) | |
| X | g.31444526dup | CA16616474 | DMD | c.3886dup (p.Leu1296ProfsTer27) c.1660dup (p.Leu554ProfsTer27) n.2505dup n.2532dup c.895dup (p.Leu299ProfsTer27) c.9040dup (p.Leu3014ProfsTer27) c.5008dup (p.Leu1670ProfsTer27) n.2701dup c.853dup (p.Leu285ProfsTer27) c.2128dup (p.Leu710ProfsTer27) c.9028dup (p.Leu3010ProfsTer27) c.9025dup (p.Leu3009ProfsTer27) c.9037dup (p.Leu3013ProfsTer27) c.9016dup (p.Leu3006ProfsTer27) c.8671dup (p.Leu2891ProfsTer27) c.5017dup (p.Leu1673ProfsTer27) c.8911dup (p.Leu2971ProfsTer27) c.8902dup (p.Leu2968ProfsTer27) c.8917dup (p.Leu2973ProfsTer27) c.3214dup (p.Leu1072ProfsTer27) | ClinVar dbSNP |
| 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.31444526G>A | CA515858220 | DMD | c.3885C>T (p.Asn1295=) c.1659C>T (p.Asn553=) n.2504C>T n.2531C>T c.894C>T (p.Asn298=) c.9039C>T (p.Asn3013=) c.5007C>T (p.Asn1669=) n.2700C>T c.852C>T (p.Asn284=) c.2127C>T (p.Asn709=) c.9027C>T (p.Asn3009=) c.9024C>T (p.Asn3008=) c.9036C>T (p.Asn3012=) c.9015C>T (p.Asn3005=) c.8670C>T (p.Asn2890=) c.5016C>T (p.Asn1672=) c.8910C>T (p.Asn2970=) c.8901C>T (p.Asn2967=) c.8916C>T (p.Asn2972=) c.3213C>T (p.Asn1071=) | ClinVar dbSNP |
| X | g.31444526G>C | CA412655124 | DMD | c.3885C>G (p.Asn1295Lys) c.1659C>G (p.Asn553Lys) n.2504C>G n.2531C>G c.894C>G (p.Asn298Lys) c.9039C>G (p.Asn3013Lys) c.5007C>G (p.Asn1669Lys) n.2700C>G c.852C>G (p.Asn284Lys) c.2127C>G (p.Asn709Lys) c.9027C>G (p.Asn3009Lys) c.9024C>G (p.Asn3008Lys) c.9036C>G (p.Asn3012Lys) c.9015C>G (p.Asn3005Lys) c.8670C>G (p.Asn2890Lys) c.5016C>G (p.Asn1672Lys) c.8910C>G (p.Asn2970Lys) c.8901C>G (p.Asn2967Lys) c.8916C>G (p.Asn2972Lys) c.3213C>G (p.Asn1071Lys) | |
| X | g.31444526G= | CA2422434045 | DMD | c.3885C= (p.Asn1295=) c.1659C= (p.Asn553=) n.2504C= n.2531C= c.894C= (p.Asn298=) c.9039C= (p.Asn3013=) c.5007C= (p.Asn1669=) n.2700C= c.852C= (p.Asn284=) c.2127C= (p.Asn709=) c.9027C= (p.Asn3009=) c.9024C= (p.Asn3008=) c.9036C= (p.Asn3012=) c.9015C= (p.Asn3005=) c.8670C= (p.Asn2890=) c.5016C= (p.Asn1672=) c.8910C= (p.Asn2970=) c.8901C= (p.Asn2967=) c.8916C= (p.Asn2972=) c.3213C= (p.Asn1071=) | |
| X | g.31444526G>T | CA412655125 | DMD | c.3885C>A (p.Asn1295Lys) c.1659C>A (p.Asn553Lys) n.2504C>A n.2531C>A c.894C>A (p.Asn298Lys) c.9039C>A (p.Asn3013Lys) c.5007C>A (p.Asn1669Lys) n.2700C>A c.852C>A (p.Asn284Lys) c.2127C>A (p.Asn709Lys) c.9027C>A (p.Asn3009Lys) c.9024C>A (p.Asn3008Lys) c.9036C>A (p.Asn3012Lys) c.9015C>A (p.Asn3005Lys) c.8670C>A (p.Asn2890Lys) c.5016C>A (p.Asn1672Lys) c.8910C>A (p.Asn2970Lys) c.8901C>A (p.Asn2967Lys) c.8916C>A (p.Asn2972Lys) c.3213C>A (p.Asn1071Lys) | |
| X | g.31444526_31444527insATAGGATATTTTATATTAGT | CA2422434046 | DMD | c.3884_3885insACTAATATAAAATATCCTAT (p.Asn1295LysfsTer4) c.1658_1659insACTAATATAAAATATCCTAT (p.Asn553LysfsTer4) n.2503_2504insACTAATATAAAATATCCTAT n.2530_2531insACTAATATAAAATATCCTAT c.893_894insACTAATATAAAATATCCTAT (p.Asn298LysfsTer4) c.9038_9039insACTAATATAAAATATCCTAT (p.Asn3013LysfsTer4) c.5006_5007insACTAATATAAAATATCCTAT (p.Asn1669LysfsTer4) n.2699_2700insACTAATATAAAATATCCTAT c.851_852insACTAATATAAAATATCCTAT (p.Asn284LysfsTer4) c.2126_2127insACTAATATAAAATATCCTAT (p.Asn709LysfsTer4) c.9026_9027insACTAATATAAAATATCCTAT (p.Asn3009LysfsTer4) c.9023_9024insACTAATATAAAATATCCTAT (p.Asn3008LysfsTer4) c.9035_9036insACTAATATAAAATATCCTAT (p.Asn3012LysfsTer4) c.9014_9015insACTAATATAAAATATCCTAT (p.Asn3005LysfsTer4) c.8669_8670insACTAATATAAAATATCCTAT (p.Asn2890LysfsTer4) c.5015_5016insACTAATATAAAATATCCTAT (p.Asn1672LysfsTer4) c.8909_8910insACTAATATAAAATATCCTAT (p.Asn2970LysfsTer4) c.8900_8901insACTAATATAAAATATCCTAT (p.Asn2967LysfsTer4) c.8915_8916insACTAATATAAAATATCCTAT (p.Asn2972LysfsTer4) c.3212_3213insACTAATATAAAATATCCTAT (p.Asn1071LysfsTer4) | dbSNP |
| X | g.31444527T>A | CA412655126 | DMD | c.3884A>T (p.Asn1295Ile) c.1658A>T (p.Asn553Ile) n.2503A>T n.2530A>T c.893A>T (p.Asn298Ile) c.9038A>T (p.Asn3013Ile) c.5006A>T (p.Asn1669Ile) n.2699A>T c.851A>T (p.Asn284Ile) c.2126A>T (p.Asn709Ile) c.9026A>T (p.Asn3009Ile) c.9023A>T (p.Asn3008Ile) c.9035A>T (p.Asn3012Ile) c.9014A>T (p.Asn3005Ile) c.8669A>T (p.Asn2890Ile) c.5015A>T (p.Asn1672Ile) c.8909A>T (p.Asn2970Ile) c.8900A>T (p.Asn2967Ile) c.8915A>T (p.Asn2972Ile) c.3212A>T (p.Asn1071Ile) | |
| X | g.31444527T>C | CA412655127 | DMD | c.3884A>G (p.Asn1295Ser) c.1658A>G (p.Asn553Ser) n.2503A>G n.2530A>G c.893A>G (p.Asn298Ser) c.9038A>G (p.Asn3013Ser) c.5006A>G (p.Asn1669Ser) n.2699A>G c.851A>G (p.Asn284Ser) c.2126A>G (p.Asn709Ser) c.9026A>G (p.Asn3009Ser) c.9023A>G (p.Asn3008Ser) c.9035A>G (p.Asn3012Ser) c.9014A>G (p.Asn3005Ser) c.8669A>G (p.Asn2890Ser) c.5015A>G (p.Asn1672Ser) c.8909A>G (p.Asn2970Ser) c.8900A>G (p.Asn2967Ser) c.8915A>G (p.Asn2972Ser) c.3212A>G (p.Asn1071Ser) | |
| X | g.31444527T>G | CA412655128 | DMD | c.3884A>C (p.Asn1295Thr) c.1658A>C (p.Asn553Thr) n.2503A>C n.2530A>C c.893A>C (p.Asn298Thr) c.9038A>C (p.Asn3013Thr) c.5006A>C (p.Asn1669Thr) n.2699A>C c.851A>C (p.Asn284Thr) c.2126A>C (p.Asn709Thr) c.9026A>C (p.Asn3009Thr) c.9023A>C (p.Asn3008Thr) c.9035A>C (p.Asn3012Thr) c.9014A>C (p.Asn3005Thr) c.8669A>C (p.Asn2890Thr) c.5015A>C (p.Asn1672Thr) c.8909A>C (p.Asn2970Thr) c.8900A>C (p.Asn2967Thr) c.8915A>C (p.Asn2972Thr) c.3212A>C (p.Asn1071Thr) | |
| 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.31444528T>A | CA412655131 | DMD | c.3883A>T (p.Asn1295Tyr) c.1657A>T (p.Asn553Tyr) n.2502A>T n.2529A>T c.892A>T (p.Asn298Tyr) c.9037A>T (p.Asn3013Tyr) c.5005A>T (p.Asn1669Tyr) n.2698A>T c.850A>T (p.Asn284Tyr) c.2125A>T (p.Asn709Tyr) c.9025A>T (p.Asn3009Tyr) c.9022A>T (p.Asn3008Tyr) c.9034A>T (p.Asn3012Tyr) c.9013A>T (p.Asn3005Tyr) c.8668A>T (p.Asn2890Tyr) c.5014A>T (p.Asn1672Tyr) c.8908A>T (p.Asn2970Tyr) c.8899A>T (p.Asn2967Tyr) c.8914A>T (p.Asn2972Tyr) c.3211A>T (p.Asn1071Tyr) | |
| X | g.31444528T>C | CA412655130 | DMD | c.3883A>G (p.Asn1295Asp) c.1657A>G (p.Asn553Asp) n.2502A>G n.2529A>G c.892A>G (p.Asn298Asp) c.9037A>G (p.Asn3013Asp) c.5005A>G (p.Asn1669Asp) n.2698A>G c.850A>G (p.Asn284Asp) c.2125A>G (p.Asn709Asp) c.9025A>G (p.Asn3009Asp) c.9022A>G (p.Asn3008Asp) c.9034A>G (p.Asn3012Asp) c.9013A>G (p.Asn3005Asp) c.8668A>G (p.Asn2890Asp) c.5014A>G (p.Asn1672Asp) c.8908A>G (p.Asn2970Asp) c.8899A>G (p.Asn2967Asp) c.8914A>G (p.Asn2972Asp) c.3211A>G (p.Asn1071Asp) | |
| X | g.31444528T>G | CA412655129 | DMD | c.3883A>C (p.Asn1295His) c.1657A>C (p.Asn553His) n.2502A>C n.2529A>C c.892A>C (p.Asn298His) c.9037A>C (p.Asn3013His) c.5005A>C (p.Asn1669His) n.2698A>C c.850A>C (p.Asn284His) c.2125A>C (p.Asn709His) c.9025A>C (p.Asn3009His) c.9022A>C (p.Asn3008His) c.9034A>C (p.Asn3012His) c.9013A>C (p.Asn3005His) c.8668A>C (p.Asn2890His) c.5014A>C (p.Asn1672His) c.8908A>C (p.Asn2970His) c.8899A>C (p.Asn2967His) c.8914A>C (p.Asn2972His) c.3211A>C (p.Asn1071His) | |
| X | g.31444529A>C | CA412655132 | DMD | c.3882T>G (p.Tyr1294Ter) c.1656T>G (p.Tyr552Ter) n.2501T>G n.2528T>G c.891T>G (p.Tyr297Ter) c.9036T>G (p.Tyr3012Ter) c.5004T>G (p.Tyr1668Ter) n.2697T>G c.849T>G (p.Tyr283Ter) c.2124T>G (p.Tyr708Ter) c.9024T>G (p.Tyr3008Ter) c.9021T>G (p.Tyr3007Ter) c.9033T>G (p.Tyr3011Ter) c.9012T>G (p.Tyr3004Ter) c.8667T>G (p.Tyr2889Ter) c.5013T>G (p.Tyr1671Ter) c.8907T>G (p.Tyr2969Ter) c.8898T>G (p.Tyr2966Ter) c.8913T>G (p.Tyr2971Ter) c.3210T>G (p.Tyr1070Ter) | |
| X | g.31444529A>G | CA515858222 | DMD | c.3882T>C (p.Tyr1294=) c.1656T>C (p.Tyr552=) n.2501T>C n.2528T>C c.891T>C (p.Tyr297=) c.9036T>C (p.Tyr3012=) c.5004T>C (p.Tyr1668=) n.2697T>C c.849T>C (p.Tyr283=) c.2124T>C (p.Tyr708=) c.9024T>C (p.Tyr3008=) c.9021T>C (p.Tyr3007=) c.9033T>C (p.Tyr3011=) c.9012T>C (p.Tyr3004=) c.8667T>C (p.Tyr2889=) c.5013T>C (p.Tyr1671=) c.8907T>C (p.Tyr2969=) c.8898T>C (p.Tyr2966=) c.8913T>C (p.Tyr2971=) c.3210T>C (p.Tyr1070=) | |
| X | g.31444529A>T | CA412655133 | DMD | c.3882T>A (p.Tyr1294Ter) c.1656T>A (p.Tyr552Ter) n.2501T>A n.2528T>A c.891T>A (p.Tyr297Ter) c.9036T>A (p.Tyr3012Ter) c.5004T>A (p.Tyr1668Ter) n.2697T>A c.849T>A (p.Tyr283Ter) c.2124T>A (p.Tyr708Ter) c.9024T>A (p.Tyr3008Ter) c.9021T>A (p.Tyr3007Ter) c.9033T>A (p.Tyr3011Ter) c.9012T>A (p.Tyr3004Ter) c.8667T>A (p.Tyr2889Ter) c.5013T>A (p.Tyr1671Ter) c.8907T>A (p.Tyr2969Ter) c.8898T>A (p.Tyr2966Ter) c.8913T>A (p.Tyr2971Ter) c.3210T>A (p.Tyr1070Ter) | dbSNP |
| X | g.31444530T>A | CA412655134 | DMD | c.3881A>T (p.Tyr1294Phe) c.1655A>T (p.Tyr552Phe) n.2500A>T n.2527A>T c.890A>T (p.Tyr297Phe) c.9035A>T (p.Tyr3012Phe) c.5003A>T (p.Tyr1668Phe) n.2696A>T c.848A>T (p.Tyr283Phe) c.2123A>T (p.Tyr708Phe) c.9023A>T (p.Tyr3008Phe) c.9020A>T (p.Tyr3007Phe) c.9032A>T (p.Tyr3011Phe) c.9011A>T (p.Tyr3004Phe) c.8666A>T (p.Tyr2889Phe) c.5012A>T (p.Tyr1671Phe) c.8906A>T (p.Tyr2969Phe) c.8897A>T (p.Tyr2966Phe) c.8912A>T (p.Tyr2971Phe) c.3209A>T (p.Tyr1070Phe) | |
| X | g.31444530T>C | CA412655135 | DMD | c.3881A>G (p.Tyr1294Cys) c.1655A>G (p.Tyr552Cys) n.2500A>G n.2527A>G c.890A>G (p.Tyr297Cys) c.9035A>G (p.Tyr3012Cys) c.5003A>G (p.Tyr1668Cys) n.2696A>G c.848A>G (p.Tyr283Cys) c.2123A>G (p.Tyr708Cys) c.9023A>G (p.Tyr3008Cys) c.9020A>G (p.Tyr3007Cys) c.9032A>G (p.Tyr3011Cys) c.9011A>G (p.Tyr3004Cys) c.8666A>G (p.Tyr2889Cys) c.5012A>G (p.Tyr1671Cys) c.8906A>G (p.Tyr2969Cys) c.8897A>G (p.Tyr2966Cys) c.8912A>G (p.Tyr2971Cys) c.3209A>G (p.Tyr1070Cys) | |
| X | g.31444530T>G | CA412655136 | DMD | c.3881A>C (p.Tyr1294Ser) c.1655A>C (p.Tyr552Ser) n.2500A>C n.2527A>C c.890A>C (p.Tyr297Ser) c.9035A>C (p.Tyr3012Ser) c.5003A>C (p.Tyr1668Ser) n.2696A>C c.848A>C (p.Tyr283Ser) c.2123A>C (p.Tyr708Ser) c.9023A>C (p.Tyr3008Ser) c.9020A>C (p.Tyr3007Ser) c.9032A>C (p.Tyr3011Ser) c.9011A>C (p.Tyr3004Ser) c.8666A>C (p.Tyr2889Ser) c.5012A>C (p.Tyr1671Ser) c.8906A>C (p.Tyr2969Ser) c.8897A>C (p.Tyr2966Ser) c.8912A>C (p.Tyr2971Ser) c.3209A>C (p.Tyr1070Ser) | |
| X | g.31444531A>C | CA412655137 | DMD | c.3880T>G (p.Tyr1294Asp) c.1654T>G (p.Tyr552Asp) n.2499T>G n.2526T>G c.889T>G (p.Tyr297Asp) c.9034T>G (p.Tyr3012Asp) c.5002T>G (p.Tyr1668Asp) n.2695T>G c.847T>G (p.Tyr283Asp) c.2122T>G (p.Tyr708Asp) c.9022T>G (p.Tyr3008Asp) c.9019T>G (p.Tyr3007Asp) c.9031T>G (p.Tyr3011Asp) c.9010T>G (p.Tyr3004Asp) c.8665T>G (p.Tyr2889Asp) c.5011T>G (p.Tyr1671Asp) c.8905T>G (p.Tyr2969Asp) c.8896T>G (p.Tyr2966Asp) c.8911T>G (p.Tyr2971Asp) c.3208T>G (p.Tyr1070Asp) | |
| X | g.31444531A>G | CA412655138 | DMD | c.3880T>C (p.Tyr1294His) c.1654T>C (p.Tyr552His) n.2499T>C n.2526T>C c.889T>C (p.Tyr297His) c.9034T>C (p.Tyr3012His) c.5002T>C (p.Tyr1668His) n.2695T>C c.847T>C (p.Tyr283His) c.2122T>C (p.Tyr708His) c.9022T>C (p.Tyr3008His) c.9019T>C (p.Tyr3007His) c.9031T>C (p.Tyr3011His) c.9010T>C (p.Tyr3004His) c.8665T>C (p.Tyr2889His) c.5011T>C (p.Tyr1671His) c.8905T>C (p.Tyr2969His) c.8896T>C (p.Tyr2966His) c.8911T>C (p.Tyr2971His) c.3208T>C (p.Tyr1070His) | |
| X | g.31444531A>T | CA412655139 | DMD | c.3880T>A (p.Tyr1294Asn) c.1654T>A (p.Tyr552Asn) n.2499T>A n.2526T>A c.889T>A (p.Tyr297Asn) c.9034T>A (p.Tyr3012Asn) c.5002T>A (p.Tyr1668Asn) n.2695T>A c.847T>A (p.Tyr283Asn) c.2122T>A (p.Tyr708Asn) c.9022T>A (p.Tyr3008Asn) c.9019T>A (p.Tyr3007Asn) c.9031T>A (p.Tyr3011Asn) c.9010T>A (p.Tyr3004Asn) c.8665T>A (p.Tyr2889Asn) c.5011T>A (p.Tyr1671Asn) c.8905T>A (p.Tyr2969Asn) c.8896T>A (p.Tyr2966Asn) c.8911T>A (p.Tyr2971Asn) c.3208T>A (p.Tyr1070Asn) | |
| 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=) |