| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.31260999_31261003delinsGTTGT | CA2422368494 | DMD | c.4084_4088delinsACAAC (p.Thr1362=) c.34_38delinsACAAC (p.Thr12=) c.1858_1862delinsACAAC (p.Thr620=) n.755_759delinsACAAC n.337_341delinsACAAC n.756_760delinsACAAC n.2730_2734delinsACAAC c.1093_1097delinsACAAC (p.Thr365=) c.9238_9242delinsACAAC (p.Thr3080=) c.5206_5210delinsACAAC (p.Thr1736=) c.14_18delinsACAAC c.-24_-20delinsACAAC (n.-24_-20delinsACAAC) n.2899_2903delinsACAAC n.168_172delinsACAAC c.1051_1055delinsACAAC (p.Thr351=) c.2326_2330delinsACAAC (p.Thr776=) c.9226_9230delinsACAAC (p.Thr3076=) n.257_261delinsACAAC c.9223_9227delinsACAAC (p.Thr3075=) c.9235_9239delinsACAAC (p.Thr3079=) c.9214_9218delinsACAAC (p.Thr3072=) c.8869_8873delinsACAAC (p.Thr2957=) c.5215_5219delinsACAAC (p.Thr1739=) c.9109_9113delinsACAAC (p.Thr3037=) c.9100_9104delinsACAAC (p.Thr3034=) c.9115_9119delinsACAAC (p.Thr3039=) c.3412_3416delinsACAAC (p.Thr1138=) | |
| X | g.31261003_31261006del | CA16616482 | DMD | c.4084_4087del (p.Thr1362LeufsTer8) c.34_37del (p.Thr12LeufsTer8) c.1858_1861del (p.Thr620LeufsTer8) n.755_758del n.337_340del n.756_759del n.2730_2733del c.1093_1096del (p.Thr365LeufsTer8) c.9238_9241del (p.Thr3080LeufsTer8) c.5206_5209del (p.Thr1736LeufsTer8) c.14_17del c.-24_-21del (n.-24_-21del) n.2899_2902del n.168_171del c.1051_1054del (p.Thr351LeufsTer8) c.2326_2329del (p.Thr776LeufsTer8) c.9226_9229del (p.Thr3076LeufsTer8) n.257_260del c.9223_9226del (p.Thr3075LeufsTer8) c.9235_9238del (p.Thr3079LeufsTer8) c.9214_9217del (p.Thr3072LeufsTer8) c.8869_8872del (p.Thr2957LeufsTer8) c.5215_5218del (p.Thr1739LeufsTer8) c.9109_9112del (p.Thr3037LeufsTer8) c.9100_9103del (p.Thr3034LeufsTer8) c.9115_9118del (p.Thr3039LeufsTer8) c.3412_3415del (p.Thr1138LeufsTer8) | ClinVar dbSNP |
| X | g.31261003T>A | CA412652537 | DMD | c.4084A>T (p.Thr1362Ser) c.34A>T (p.Thr12Ser) c.1858A>T (p.Thr620Ser) n.755A>T n.337A>T n.756A>T n.2730A>T c.1093A>T (p.Thr365Ser) c.9238A>T (p.Thr3080Ser) c.5206A>T (p.Thr1736Ser) c.14A>T c.-24A>T (n.-24A>T) n.2899A>T n.168A>T c.1051A>T (p.Thr351Ser) c.2326A>T (p.Thr776Ser) c.9226A>T (p.Thr3076Ser) n.257A>T c.9223A>T (p.Thr3075Ser) c.9235A>T (p.Thr3079Ser) c.9214A>T (p.Thr3072Ser) c.8869A>T (p.Thr2957Ser) c.5215A>T (p.Thr1739Ser) c.9109A>T (p.Thr3037Ser) c.9100A>T (p.Thr3034Ser) c.9115A>T (p.Thr3039Ser) c.3412A>T (p.Thr1138Ser) | |
| X | g.31261003T>C | CA412652538 | DMD | c.4084A>G (p.Thr1362Ala) c.34A>G (p.Thr12Ala) c.1858A>G (p.Thr620Ala) n.755A>G n.337A>G n.756A>G n.2730A>G c.1093A>G (p.Thr365Ala) c.9238A>G (p.Thr3080Ala) c.5206A>G (p.Thr1736Ala) c.14A>G c.-24A>G (n.-24A>G) n.2899A>G n.168A>G c.1051A>G (p.Thr351Ala) c.2326A>G (p.Thr776Ala) c.9226A>G (p.Thr3076Ala) n.257A>G c.9223A>G (p.Thr3075Ala) c.9235A>G (p.Thr3079Ala) c.9214A>G (p.Thr3072Ala) c.8869A>G (p.Thr2957Ala) c.5215A>G (p.Thr1739Ala) c.9109A>G (p.Thr3037Ala) c.9100A>G (p.Thr3034Ala) c.9115A>G (p.Thr3039Ala) c.3412A>G (p.Thr1138Ala) | |
| X | g.31261003T>G | CA412652539 | DMD | c.4084A>C (p.Thr1362Pro) c.34A>C (p.Thr12Pro) c.1858A>C (p.Thr620Pro) n.755A>C n.337A>C n.756A>C n.2730A>C c.1093A>C (p.Thr365Pro) c.9238A>C (p.Thr3080Pro) c.5206A>C (p.Thr1736Pro) c.14A>C c.-24A>C (n.-24A>C) n.2899A>C n.168A>C c.1051A>C (p.Thr351Pro) c.2326A>C (p.Thr776Pro) c.9226A>C (p.Thr3076Pro) n.257A>C c.9223A>C (p.Thr3075Pro) c.9235A>C (p.Thr3079Pro) c.9214A>C (p.Thr3072Pro) c.8869A>C (p.Thr2957Pro) c.5215A>C (p.Thr1739Pro) c.9109A>C (p.Thr3037Pro) c.9100A>C (p.Thr3034Pro) c.9115A>C (p.Thr3039Pro) c.3412A>C (p.Thr1138Pro) | |
| X | g.31261005dup | CA2573158745 | DMD | c.4084dup (p.Thr1362AsnfsTer18) c.34dup (p.Thr12AsnfsTer18) c.1858dup (p.Thr620AsnfsTer18) n.755dup n.337dup n.756dup n.2730dup c.1093dup (p.Thr365AsnfsTer18) c.9238dup (p.Thr3080AsnfsTer18) c.5206dup (p.Thr1736AsnfsTer18) c.14dup c.-24dup (n.-24dup) n.2899dup n.168dup c.34dup (p.Thr12AsnfsTer21) c.1051dup (p.Thr351AsnfsTer18) c.2326dup (p.Thr776AsnfsTer18) c.9226dup (p.Thr3076AsnfsTer18) n.257dup c.9223dup (p.Thr3075AsnfsTer18) c.9235dup (p.Thr3079AsnfsTer18) c.9214dup (p.Thr3072AsnfsTer18) c.8869dup (p.Thr2957AsnfsTer18) c.5215dup (p.Thr1739AsnfsTer18) c.9109dup (p.Thr3037AsnfsTer18) c.9100dup (p.Thr3034AsnfsTer18) c.9115dup (p.Thr3039AsnfsTer18) c.3412dup (p.Thr1138AsnfsTer18) | ClinVar dbSNP |
| X | g.31261004T>A | CA412652540 | DMD | c.4083A>T (p.Gln1361His) c.33A>T (p.Gln11His) c.1857A>T (p.Gln619His) n.754A>T n.336A>T n.755A>T n.2729A>T c.1092A>T (p.Gln364His) c.9237A>T (p.Gln3079His) c.5205A>T (p.Gln1735His) c.13A>T c.-25A>T (n.-25A>T) n.2898A>T n.167A>T c.1050A>T (p.Gln350His) c.2325A>T (p.Gln775His) c.9225A>T (p.Gln3075His) n.256A>T c.9222A>T (p.Gln3074His) c.9234A>T (p.Gln3078His) c.9213A>T (p.Gln3071His) c.8868A>T (p.Gln2956His) c.5214A>T (p.Gln1738His) c.9108A>T (p.Gln3036His) c.9099A>T (p.Gln3033His) c.9114A>T (p.Gln3038His) c.3411A>T (p.Gln1137His) | |
| X | g.31261004T>C | CA515858548 | DMD | c.4083A>G (p.Gln1361=) c.33A>G (p.Gln11=) c.1857A>G (p.Gln619=) n.754A>G n.336A>G n.755A>G n.2729A>G c.1092A>G (p.Gln364=) c.9237A>G (p.Gln3079=) c.5205A>G (p.Gln1735=) c.13A>G c.-25A>G (n.-25A>G) n.2898A>G n.167A>G c.1050A>G (p.Gln350=) c.2325A>G (p.Gln775=) c.9225A>G (p.Gln3075=) n.256A>G c.9222A>G (p.Gln3074=) c.9234A>G (p.Gln3078=) c.9213A>G (p.Gln3071=) c.8868A>G (p.Gln2956=) c.5214A>G (p.Gln1738=) c.9108A>G (p.Gln3036=) c.9099A>G (p.Gln3033=) c.9114A>G (p.Gln3038=) c.3411A>G (p.Gln1137=) | ClinVar |
| X | g.31261004T>G | CA412652541 | DMD | c.4083A>C (p.Gln1361His) c.33A>C (p.Gln11His) c.1857A>C (p.Gln619His) n.754A>C n.336A>C n.755A>C n.2729A>C c.1092A>C (p.Gln364His) c.9237A>C (p.Gln3079His) c.5205A>C (p.Gln1735His) c.13A>C c.-25A>C (n.-25A>C) n.2898A>C n.167A>C c.1050A>C (p.Gln350His) c.2325A>C (p.Gln775His) c.9225A>C (p.Gln3075His) n.256A>C c.9222A>C (p.Gln3074His) c.9234A>C (p.Gln3078His) c.9213A>C (p.Gln3071His) c.8868A>C (p.Gln2956His) c.5214A>C (p.Gln1738His) c.9108A>C (p.Gln3036His) c.9099A>C (p.Gln3033His) c.9114A>C (p.Gln3038His) c.3411A>C (p.Gln1137His) | |
| X | g.31261005T>A | CA412652542 | DMD | c.4082A>T (p.Gln1361Leu) c.32A>T (p.Gln11Leu) c.1856A>T (p.Gln619Leu) n.753A>T n.335A>T n.754A>T n.2728A>T c.1091A>T (p.Gln364Leu) c.9236A>T (p.Gln3079Leu) c.5204A>T (p.Gln1735Leu) c.12A>T c.-26A>T (n.-26A>T) n.2897A>T n.166A>T c.1049A>T (p.Gln350Leu) c.2324A>T (p.Gln775Leu) c.9224A>T (p.Gln3075Leu) n.255A>T c.9221A>T (p.Gln3074Leu) c.9233A>T (p.Gln3078Leu) c.9212A>T (p.Gln3071Leu) c.8867A>T (p.Gln2956Leu) c.5213A>T (p.Gln1738Leu) c.9107A>T (p.Gln3036Leu) c.9098A>T (p.Gln3033Leu) c.9113A>T (p.Gln3038Leu) c.3410A>T (p.Gln1137Leu) | |
| X | g.31261005T>C | CA412652543 | DMD | c.4082A>G (p.Gln1361Arg) c.32A>G (p.Gln11Arg) c.1856A>G (p.Gln619Arg) n.753A>G n.335A>G n.754A>G n.2728A>G c.1091A>G (p.Gln364Arg) c.9236A>G (p.Gln3079Arg) c.5204A>G (p.Gln1735Arg) c.12A>G c.-26A>G (n.-26A>G) n.2897A>G n.166A>G c.1049A>G (p.Gln350Arg) c.2324A>G (p.Gln775Arg) c.9224A>G (p.Gln3075Arg) n.255A>G c.9221A>G (p.Gln3074Arg) c.9233A>G (p.Gln3078Arg) c.9212A>G (p.Gln3071Arg) c.8867A>G (p.Gln2956Arg) c.5213A>G (p.Gln1738Arg) c.9107A>G (p.Gln3036Arg) c.9098A>G (p.Gln3033Arg) c.9113A>G (p.Gln3038Arg) c.3410A>G (p.Gln1137Arg) | |
| X | g.31261005T>G | CA412652544 | DMD | c.4082A>C (p.Gln1361Pro) c.32A>C (p.Gln11Pro) c.1856A>C (p.Gln619Pro) n.753A>C n.335A>C n.754A>C n.2728A>C c.1091A>C (p.Gln364Pro) c.9236A>C (p.Gln3079Pro) c.5204A>C (p.Gln1735Pro) c.12A>C c.-26A>C (n.-26A>C) n.2897A>C n.166A>C c.1049A>C (p.Gln350Pro) c.2324A>C (p.Gln775Pro) c.9224A>C (p.Gln3075Pro) n.255A>C c.9221A>C (p.Gln3074Pro) c.9233A>C (p.Gln3078Pro) c.9212A>C (p.Gln3071Pro) c.8867A>C (p.Gln2956Pro) c.5213A>C (p.Gln1738Pro) c.9107A>C (p.Gln3036Pro) c.9098A>C (p.Gln3033Pro) c.9113A>C (p.Gln3038Pro) c.3410A>C (p.Gln1137Pro) | |
| X | g.31261006G>A | CA412652545 | DMD | c.4081C>T (p.Gln1361Ter) c.31C>T (p.Gln11Ter) c.1855C>T (p.Gln619Ter) n.752C>T n.334C>T n.753C>T n.2727C>T c.1090C>T (p.Gln364Ter) c.9235C>T (p.Gln3079Ter) c.5203C>T (p.Gln1735Ter) c.11C>T c.-27C>T (n.-27C>T) n.2896C>T n.165C>T c.1048C>T (p.Gln350Ter) c.2323C>T (p.Gln775Ter) c.9223C>T (p.Gln3075Ter) n.254C>T c.9220C>T (p.Gln3074Ter) c.9232C>T (p.Gln3078Ter) c.9211C>T (p.Gln3071Ter) c.8866C>T (p.Gln2956Ter) c.5212C>T (p.Gln1738Ter) c.9106C>T (p.Gln3036Ter) c.9097C>T (p.Gln3033Ter) c.9112C>T (p.Gln3038Ter) c.3409C>T (p.Gln1137Ter) | |
| X | g.31261006G>C | CA412652546 | DMD | c.4081C>G (p.Gln1361Glu) c.31C>G (p.Gln11Glu) c.1855C>G (p.Gln619Glu) n.752C>G n.334C>G n.753C>G n.2727C>G c.1090C>G (p.Gln364Glu) c.9235C>G (p.Gln3079Glu) c.5203C>G (p.Gln1735Glu) c.11C>G c.-27C>G (n.-27C>G) n.2896C>G n.165C>G c.1048C>G (p.Gln350Glu) c.2323C>G (p.Gln775Glu) c.9223C>G (p.Gln3075Glu) n.254C>G c.9220C>G (p.Gln3074Glu) c.9232C>G (p.Gln3078Glu) c.9211C>G (p.Gln3071Glu) c.8866C>G (p.Gln2956Glu) c.5212C>G (p.Gln1738Glu) c.9106C>G (p.Gln3036Glu) c.9097C>G (p.Gln3033Glu) c.9112C>G (p.Gln3038Glu) c.3409C>G (p.Gln1137Glu) | |
| X | g.31261006G>T | CA412652547 | DMD | c.4081C>A (p.Gln1361Lys) c.31C>A (p.Gln11Lys) c.1855C>A (p.Gln619Lys) n.752C>A n.334C>A n.753C>A n.2727C>A c.1090C>A (p.Gln364Lys) c.9235C>A (p.Gln3079Lys) c.5203C>A (p.Gln1735Lys) c.11C>A c.-27C>A (n.-27C>A) n.2896C>A n.165C>A c.1048C>A (p.Gln350Lys) c.2323C>A (p.Gln775Lys) c.9223C>A (p.Gln3075Lys) n.254C>A c.9220C>A (p.Gln3074Lys) c.9232C>A (p.Gln3078Lys) c.9211C>A (p.Gln3071Lys) c.8866C>A (p.Gln2956Lys) c.5212C>A (p.Gln1738Lys) c.9106C>A (p.Gln3036Lys) c.9097C>A (p.Gln3033Lys) c.9112C>A (p.Gln3038Lys) c.3409C>A (p.Gln1137Lys) | |
| X | g.31261007A>C | CA515858551 | DMD | c.4080T>G (p.Thr1360=) c.30T>G (p.Thr10=) c.1854T>G (p.Thr618=) n.751T>G n.333T>G n.752T>G n.2726T>G c.1089T>G (p.Thr363=) c.9234T>G (p.Thr3078=) c.5202T>G (p.Thr1734=) c.10T>G c.-28T>G (n.-28T>G) n.2895T>G n.164T>G c.1047T>G (p.Thr349=) c.2322T>G (p.Thr774=) c.9222T>G (p.Thr3074=) n.253T>G c.9219T>G (p.Thr3073=) c.9231T>G (p.Thr3077=) c.9210T>G (p.Thr3070=) c.8865T>G (p.Thr2955=) c.5211T>G (p.Thr1737=) c.9105T>G (p.Thr3035=) c.9096T>G (p.Thr3032=) c.9111T>G (p.Thr3037=) c.3408T>G (p.Thr1136=) | |
| X | g.31261007A>G | CA515858550 | DMD | c.4080T>C (p.Thr1360=) c.30T>C (p.Thr10=) c.1854T>C (p.Thr618=) n.751T>C n.333T>C n.752T>C n.2726T>C c.1089T>C (p.Thr363=) c.9234T>C (p.Thr3078=) c.5202T>C (p.Thr1734=) c.10T>C c.-28T>C (n.-28T>C) n.2895T>C n.164T>C c.1047T>C (p.Thr349=) c.2322T>C (p.Thr774=) c.9222T>C (p.Thr3074=) n.253T>C c.9219T>C (p.Thr3073=) c.9231T>C (p.Thr3077=) c.9210T>C (p.Thr3070=) c.8865T>C (p.Thr2955=) c.5211T>C (p.Thr1737=) c.9105T>C (p.Thr3035=) c.9096T>C (p.Thr3032=) c.9111T>C (p.Thr3037=) c.3408T>C (p.Thr1136=) | |
| X | g.31261007A>T | CA515858549 | DMD | c.4080T>A (p.Thr1360=) c.30T>A (p.Thr10=) c.1854T>A (p.Thr618=) n.751T>A n.333T>A n.752T>A n.2726T>A c.1089T>A (p.Thr363=) c.9234T>A (p.Thr3078=) c.5202T>A (p.Thr1734=) c.10T>A c.-28T>A (n.-28T>A) n.2895T>A n.164T>A c.1047T>A (p.Thr349=) c.2322T>A (p.Thr774=) c.9222T>A (p.Thr3074=) n.253T>A c.9219T>A (p.Thr3073=) c.9231T>A (p.Thr3077=) c.9210T>A (p.Thr3070=) c.8865T>A (p.Thr2955=) c.5211T>A (p.Thr1737=) c.9105T>A (p.Thr3035=) c.9096T>A (p.Thr3032=) c.9111T>A (p.Thr3037=) c.3408T>A (p.Thr1136=) | ClinVar dbSNP |
| X | g.31261008G>A | CA412652548 | DMD | c.4079C>T (p.Thr1360Ile) c.29C>T (p.Thr10Ile) c.1853C>T (p.Thr618Ile) n.750C>T n.332C>T n.751C>T n.2725C>T c.1088C>T (p.Thr363Ile) c.9233C>T (p.Thr3078Ile) c.5201C>T (p.Thr1734Ile) c.9C>T c.-29C>T (n.-29C>T) n.2894C>T n.163C>T c.1046C>T (p.Thr349Ile) c.2321C>T (p.Thr774Ile) c.9221C>T (p.Thr3074Ile) n.252C>T c.9218C>T (p.Thr3073Ile) c.9230C>T (p.Thr3077Ile) c.9209C>T (p.Thr3070Ile) c.8864C>T (p.Thr2955Ile) c.5210C>T (p.Thr1737Ile) c.9104C>T (p.Thr3035Ile) c.9095C>T (p.Thr3032Ile) c.9110C>T (p.Thr3037Ile) c.3407C>T (p.Thr1136Ile) | |
| X | g.31261008G>C | CA412652549 | DMD | c.4079C>G (p.Thr1360Ser) c.29C>G (p.Thr10Ser) c.1853C>G (p.Thr618Ser) n.750C>G n.332C>G n.751C>G n.2725C>G c.1088C>G (p.Thr363Ser) c.9233C>G (p.Thr3078Ser) c.5201C>G (p.Thr1734Ser) c.9C>G c.-29C>G (n.-29C>G) n.2894C>G n.163C>G c.1046C>G (p.Thr349Ser) c.2321C>G (p.Thr774Ser) c.9221C>G (p.Thr3074Ser) n.252C>G c.9218C>G (p.Thr3073Ser) c.9230C>G (p.Thr3077Ser) c.9209C>G (p.Thr3070Ser) c.8864C>G (p.Thr2955Ser) c.5210C>G (p.Thr1737Ser) c.9104C>G (p.Thr3035Ser) c.9095C>G (p.Thr3032Ser) c.9110C>G (p.Thr3037Ser) c.3407C>G (p.Thr1136Ser) | gnomAD v4 |
| X | g.31261008G>T | CA412652550 | DMD | c.4079C>A (p.Thr1360Asn) c.29C>A (p.Thr10Asn) c.1853C>A (p.Thr618Asn) n.750C>A n.332C>A n.751C>A n.2725C>A c.1088C>A (p.Thr363Asn) c.9233C>A (p.Thr3078Asn) c.5201C>A (p.Thr1734Asn) c.9C>A c.-29C>A (n.-29C>A) n.2894C>A n.163C>A c.1046C>A (p.Thr349Asn) c.2321C>A (p.Thr774Asn) c.9221C>A (p.Thr3074Asn) n.252C>A c.9218C>A (p.Thr3073Asn) c.9230C>A (p.Thr3077Asn) c.9209C>A (p.Thr3070Asn) c.8864C>A (p.Thr2955Asn) c.5210C>A (p.Thr1737Asn) c.9104C>A (p.Thr3035Asn) c.9095C>A (p.Thr3032Asn) c.9110C>A (p.Thr3037Asn) c.3407C>A (p.Thr1136Asn) | |
| X | g.31261009T>A | CA412652551 | DMD | c.4078A>T (p.Thr1360Ser) c.28A>T (p.Thr10Ser) c.1852A>T (p.Thr618Ser) n.749A>T n.331A>T n.750A>T n.2724A>T c.1087A>T (p.Thr363Ser) c.9232A>T (p.Thr3078Ser) c.5200A>T (p.Thr1734Ser) c.8A>T c.-30A>T (n.-30A>T) n.2893A>T n.162A>T c.1045A>T (p.Thr349Ser) c.2320A>T (p.Thr774Ser) c.9220A>T (p.Thr3074Ser) n.251A>T c.9217A>T (p.Thr3073Ser) c.9229A>T (p.Thr3077Ser) c.9208A>T (p.Thr3070Ser) c.8863A>T (p.Thr2955Ser) c.5209A>T (p.Thr1737Ser) c.9103A>T (p.Thr3035Ser) c.9094A>T (p.Thr3032Ser) c.9109A>T (p.Thr3037Ser) c.3406A>T (p.Thr1136Ser) | |
| X | g.31261009T>C | CA412652552 | DMD | c.4078A>G (p.Thr1360Ala) c.28A>G (p.Thr10Ala) c.1852A>G (p.Thr618Ala) n.749A>G n.331A>G n.750A>G n.2724A>G c.1087A>G (p.Thr363Ala) c.9232A>G (p.Thr3078Ala) c.5200A>G (p.Thr1734Ala) c.8A>G c.-30A>G (n.-30A>G) n.2893A>G n.162A>G c.1045A>G (p.Thr349Ala) c.2320A>G (p.Thr774Ala) c.9220A>G (p.Thr3074Ala) n.251A>G c.9217A>G (p.Thr3073Ala) c.9229A>G (p.Thr3077Ala) c.9208A>G (p.Thr3070Ala) c.8863A>G (p.Thr2955Ala) c.5209A>G (p.Thr1737Ala) c.9103A>G (p.Thr3035Ala) c.9094A>G (p.Thr3032Ala) c.9109A>G (p.Thr3037Ala) c.3406A>G (p.Thr1136Ala) | |
| X | g.31261009T>G | CA412652553 | DMD | c.4078A>C (p.Thr1360Pro) c.28A>C (p.Thr10Pro) c.1852A>C (p.Thr618Pro) n.749A>C n.331A>C n.750A>C n.2724A>C c.1087A>C (p.Thr363Pro) c.9232A>C (p.Thr3078Pro) c.5200A>C (p.Thr1734Pro) c.8A>C c.-30A>C (n.-30A>C) n.2893A>C n.162A>C c.1045A>C (p.Thr349Pro) c.2320A>C (p.Thr774Pro) c.9220A>C (p.Thr3074Pro) n.251A>C c.9217A>C (p.Thr3073Pro) c.9229A>C (p.Thr3077Pro) c.9208A>C (p.Thr3070Pro) c.8863A>C (p.Thr2955Pro) c.5209A>C (p.Thr1737Pro) c.9103A>C (p.Thr3035Pro) c.9094A>C (p.Thr3032Pro) c.9109A>C (p.Thr3037Pro) c.3406A>C (p.Thr1136Pro) | |
| X | g.31261009T= | CA2422368495 | DMD | c.4078A= (p.Thr1360=) c.28A= (p.Thr10=) c.1852A= (p.Thr618=) n.749A= n.331A= n.750A= n.2724A= c.1087A= (p.Thr363=) c.9232A= (p.Thr3078=) c.5200A= (p.Thr1734=) c.8A= c.-30A= (n.-30A=) n.2893A= n.162A= c.1045A= (p.Thr349=) c.2320A= (p.Thr774=) c.9220A= (p.Thr3074=) n.251A= c.9217A= (p.Thr3073=) c.9229A= (p.Thr3077=) c.9208A= (p.Thr3070=) c.8863A= (p.Thr2955=) c.5209A= (p.Thr1737=) c.9103A= (p.Thr3035=) c.9094A= (p.Thr3032=) c.9109A= (p.Thr3037=) c.3406A= (p.Thr1136=) | |
| X | g.31261010C>A | CA412652554 | DMD | c.4077G>T (p.Glu1359Asp) c.27G>T (p.Glu9Asp) c.1851G>T (p.Glu617Asp) n.748G>T n.330G>T n.749G>T n.2723G>T c.1086G>T (p.Glu362Asp) c.9231G>T (p.Glu3077Asp) c.5199G>T (p.Glu1733Asp) c.7G>T c.-31G>T (n.-31G>T) n.2892G>T n.161G>T c.1044G>T (p.Glu348Asp) c.2319G>T (p.Glu773Asp) c.9219G>T (p.Glu3073Asp) n.250G>T c.9216G>T (p.Glu3072Asp) c.9228G>T (p.Glu3076Asp) c.9207G>T (p.Glu3069Asp) c.8862G>T (p.Glu2954Asp) c.5208G>T (p.Glu1736Asp) c.9102G>T (p.Glu3034Asp) c.9093G>T (p.Glu3031Asp) c.9108G>T (p.Glu3036Asp) c.3405G>T (p.Glu1135Asp) | |
| X | g.31261010C>G | CA412652555 | DMD | c.4077G>C (p.Glu1359Asp) c.27G>C (p.Glu9Asp) c.1851G>C (p.Glu617Asp) n.748G>C n.330G>C n.749G>C n.2723G>C c.1086G>C (p.Glu362Asp) c.9231G>C (p.Glu3077Asp) c.5199G>C (p.Glu1733Asp) c.7G>C c.-31G>C (n.-31G>C) n.2892G>C n.161G>C c.1044G>C (p.Glu348Asp) c.2319G>C (p.Glu773Asp) c.9219G>C (p.Glu3073Asp) n.250G>C c.9216G>C (p.Glu3072Asp) c.9228G>C (p.Glu3076Asp) c.9207G>C (p.Glu3069Asp) c.8862G>C (p.Glu2954Asp) c.5208G>C (p.Glu1736Asp) c.9102G>C (p.Glu3034Asp) c.9093G>C (p.Glu3031Asp) c.9108G>C (p.Glu3036Asp) c.3405G>C (p.Glu1135Asp) | |
| X | g.31261010C>T | CA515858552 | DMD | c.4077G>A (p.Glu1359=) c.27G>A (p.Glu9=) c.1851G>A (p.Glu617=) n.748G>A n.330G>A n.749G>A n.2723G>A c.1086G>A (p.Glu362=) c.9231G>A (p.Glu3077=) c.5199G>A (p.Glu1733=) c.7G>A c.-31G>A (n.-31G>A) n.2892G>A n.161G>A c.1044G>A (p.Glu348=) c.2319G>A (p.Glu773=) c.9219G>A (p.Glu3073=) n.250G>A c.9216G>A (p.Glu3072=) c.9228G>A (p.Glu3076=) c.9207G>A (p.Glu3069=) c.8862G>A (p.Glu2954=) c.5208G>A (p.Glu1736=) c.9102G>A (p.Glu3034=) c.9093G>A (p.Glu3031=) c.9108G>A (p.Glu3036=) c.3405G>A (p.Glu1135=) | |
| X | g.31261010dup | CA915950891 | DMD | c.4077dup (p.Thr1360AspfsTer20) c.27dup (p.Thr10AspfsTer20) c.1851dup (p.Thr618AspfsTer20) n.748dup n.330dup n.749dup n.2723dup c.1086dup (p.Thr363AspfsTer20) c.9231dup (p.Thr3078AspfsTer20) c.5199dup (p.Thr1734AspfsTer20) c.7dup c.-31dup (n.-31dup) n.2892dup n.161dup c.27dup (p.Thr10AspfsTer23) c.1044dup (p.Thr349AspfsTer20) c.2319dup (p.Thr774AspfsTer20) c.9219dup (p.Thr3074AspfsTer20) n.250dup c.9216dup (p.Thr3073AspfsTer20) c.9228dup (p.Thr3077AspfsTer20) c.9207dup (p.Thr3070AspfsTer20) c.8862dup (p.Thr2955AspfsTer20) c.5208dup (p.Thr1737AspfsTer20) c.9102dup (p.Thr3035AspfsTer20) c.9093dup (p.Thr3032AspfsTer20) c.9108dup (p.Thr3037AspfsTer20) c.3405dup (p.Thr1136AspfsTer20) | ClinVar dbSNP |
| X | g.31261011T>A | CA412652556 | DMD | c.4076A>T (p.Glu1359Val) c.26A>T (p.Glu9Val) c.1850A>T (p.Glu617Val) n.747A>T n.329A>T n.748A>T n.2722A>T c.1085A>T (p.Glu362Val) c.9230A>T (p.Glu3077Val) c.5198A>T (p.Glu1733Val) c.6A>T c.-32A>T (n.-32A>T) n.2891A>T n.160A>T c.1043A>T (p.Glu348Val) c.2318A>T (p.Glu773Val) c.9218A>T (p.Glu3073Val) n.249A>T c.9215A>T (p.Glu3072Val) c.9227A>T (p.Glu3076Val) c.9206A>T (p.Glu3069Val) c.8861A>T (p.Glu2954Val) c.5207A>T (p.Glu1736Val) c.9101A>T (p.Glu3034Val) c.9092A>T (p.Glu3031Val) c.9107A>T (p.Glu3036Val) c.3404A>T (p.Glu1135Val) | |
| X | g.31261011T>C | CA412652557 | DMD | c.4076A>G (p.Glu1359Gly) c.26A>G (p.Glu9Gly) c.1850A>G (p.Glu617Gly) n.747A>G n.329A>G n.748A>G n.2722A>G c.1085A>G (p.Glu362Gly) c.9230A>G (p.Glu3077Gly) c.5198A>G (p.Glu1733Gly) c.6A>G c.-32A>G (n.-32A>G) n.2891A>G n.160A>G c.1043A>G (p.Glu348Gly) c.2318A>G (p.Glu773Gly) c.9218A>G (p.Glu3073Gly) n.249A>G c.9215A>G (p.Glu3072Gly) c.9227A>G (p.Glu3076Gly) c.9206A>G (p.Glu3069Gly) c.8861A>G (p.Glu2954Gly) c.5207A>G (p.Glu1736Gly) c.9101A>G (p.Glu3034Gly) c.9092A>G (p.Glu3031Gly) c.9107A>G (p.Glu3036Gly) c.3404A>G (p.Glu1135Gly) | |
| X | g.31261011T>G | CA412652558 | DMD | c.4076A>C (p.Glu1359Ala) c.26A>C (p.Glu9Ala) c.1850A>C (p.Glu617Ala) n.747A>C n.329A>C n.748A>C n.2722A>C c.1085A>C (p.Glu362Ala) c.9230A>C (p.Glu3077Ala) c.5198A>C (p.Glu1733Ala) c.6A>C c.-32A>C (n.-32A>C) n.2891A>C n.160A>C c.1043A>C (p.Glu348Ala) c.2318A>C (p.Glu773Ala) c.9218A>C (p.Glu3073Ala) n.249A>C c.9215A>C (p.Glu3072Ala) c.9227A>C (p.Glu3076Ala) c.9206A>C (p.Glu3069Ala) c.8861A>C (p.Glu2954Ala) c.5207A>C (p.Glu1736Ala) c.9101A>C (p.Glu3034Ala) c.9092A>C (p.Glu3031Ala) c.9107A>C (p.Glu3036Ala) c.3404A>C (p.Glu1135Ala) | |
| X | g.31261012C>A | CA412652559 | DMD | c.4075G>T (p.Glu1359Ter) c.25G>T (p.Glu9Ter) c.1849G>T (p.Glu617Ter) n.746G>T n.328G>T n.747G>T n.2721G>T c.1084G>T (p.Glu362Ter) c.9229G>T (p.Glu3077Ter) c.5197G>T (p.Glu1733Ter) c.5G>T c.-33G>T (n.-33G>T) n.2890G>T n.159G>T c.1042G>T (p.Glu348Ter) c.2317G>T (p.Glu773Ter) c.9217G>T (p.Glu3073Ter) n.248G>T c.9214G>T (p.Glu3072Ter) c.9226G>T (p.Glu3076Ter) c.9205G>T (p.Glu3069Ter) c.8860G>T (p.Glu2954Ter) c.5206G>T (p.Glu1736Ter) c.9100G>T (p.Glu3034Ter) c.9091G>T (p.Glu3031Ter) c.9106G>T (p.Glu3036Ter) c.3403G>T (p.Glu1135Ter) | |
| X | g.31261012C>G | CA412652560 | DMD | c.4075G>C (p.Glu1359Gln) c.25G>C (p.Glu9Gln) c.1849G>C (p.Glu617Gln) n.746G>C n.328G>C n.747G>C n.2721G>C c.1084G>C (p.Glu362Gln) c.9229G>C (p.Glu3077Gln) c.5197G>C (p.Glu1733Gln) c.5G>C c.-33G>C (n.-33G>C) n.2890G>C n.159G>C c.1042G>C (p.Glu348Gln) c.2317G>C (p.Glu773Gln) c.9217G>C (p.Glu3073Gln) n.248G>C c.9214G>C (p.Glu3072Gln) c.9226G>C (p.Glu3076Gln) c.9205G>C (p.Glu3069Gln) c.8860G>C (p.Glu2954Gln) c.5206G>C (p.Glu1736Gln) c.9100G>C (p.Glu3034Gln) c.9091G>C (p.Glu3031Gln) c.9106G>C (p.Glu3036Gln) c.3403G>C (p.Glu1135Gln) | |
| X | g.31261012C>T | CA412652561 | DMD | c.4075G>A (p.Glu1359Lys) c.25G>A (p.Glu9Lys) c.1849G>A (p.Glu617Lys) n.746G>A n.328G>A n.747G>A n.2721G>A c.1084G>A (p.Glu362Lys) c.9229G>A (p.Glu3077Lys) c.5197G>A (p.Glu1733Lys) c.5G>A c.-33G>A (n.-33G>A) n.2890G>A n.159G>A c.1042G>A (p.Glu348Lys) c.2317G>A (p.Glu773Lys) c.9217G>A (p.Glu3073Lys) n.248G>A c.9214G>A (p.Glu3072Lys) c.9226G>A (p.Glu3076Lys) c.9205G>A (p.Glu3069Lys) c.8860G>A (p.Glu2954Lys) c.5206G>A (p.Glu1736Lys) c.9100G>A (p.Glu3034Lys) c.9091G>A (p.Glu3031Lys) c.9106G>A (p.Glu3036Lys) c.3403G>A (p.Glu1135Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31261012_31261013insT | CA2695232329 | DMD | c.4074_4075insA (p.Glu1359ArgfsTer21) c.24_25insA (p.Glu9ArgfsTer21) c.1848_1849insA (p.Glu617ArgfsTer21) n.745_746insA n.327_328insA n.746_747insA n.2720_2721insA c.1083_1084insA (p.Glu362ArgfsTer21) c.9228_9229insA (p.Glu3077ArgfsTer21) c.5196_5197insA (p.Glu1733ArgfsTer21) c.4_5insA c.-34_-33insA (n.-34_-33insA) n.2889_2890insA n.158_159insA c.24_25insA (p.Glu9ArgfsTer24) c.1041_1042insA (p.Glu348ArgfsTer21) c.2316_2317insA (p.Glu773ArgfsTer21) c.9216_9217insA (p.Glu3073ArgfsTer21) n.247_248insA c.9213_9214insA (p.Glu3072ArgfsTer21) c.9225_9226insA (p.Glu3076ArgfsTer21) c.9204_9205insA (p.Glu3069ArgfsTer21) c.8859_8860insA (p.Glu2954ArgfsTer21) c.5205_5206insA (p.Glu1736ArgfsTer21) c.9099_9100insA (p.Glu3034ArgfsTer21) c.9090_9091insA (p.Glu3031ArgfsTer21) c.9105_9106insA (p.Glu3036ArgfsTer21) c.3402_3403insA (p.Glu1135ArgfsTer21) | |
| X | g.31261013G>A | CA10377853 | DMD | c.4074C>T (p.His1358=) c.24C>T (p.His8=) c.1848C>T (p.His616=) n.745C>T n.327C>T n.746C>T n.2720C>T c.1083C>T (p.His361=) c.9228C>T (p.His3076=) c.5196C>T (p.His1732=) c.4C>T c.-34C>T (n.-34C>T) n.2889C>T n.158C>T c.1041C>T (p.His347=) c.2316C>T (p.His772=) c.9216C>T (p.His3072=) n.247C>T c.9213C>T (p.His3071=) c.9225C>T (p.His3075=) c.9204C>T (p.His3068=) c.8859C>T (p.His2953=) c.5205C>T (p.His1735=) c.9099C>T (p.His3033=) c.9090C>T (p.His3030=) c.9105C>T (p.His3035=) c.3402C>T (p.His1134=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.31261013G>C | CA412652562 | DMD | c.4074C>G (p.His1358Gln) c.24C>G (p.His8Gln) c.1848C>G (p.His616Gln) n.745C>G n.327C>G n.746C>G n.2720C>G c.1083C>G (p.His361Gln) c.9228C>G (p.His3076Gln) c.5196C>G (p.His1732Gln) c.4C>G c.-34C>G (n.-34C>G) n.2889C>G n.158C>G c.1041C>G (p.His347Gln) c.2316C>G (p.His772Gln) c.9216C>G (p.His3072Gln) n.247C>G c.9213C>G (p.His3071Gln) c.9225C>G (p.His3075Gln) c.9204C>G (p.His3068Gln) c.8859C>G (p.His2953Gln) c.5205C>G (p.His1735Gln) c.9099C>G (p.His3033Gln) c.9090C>G (p.His3030Gln) c.9105C>G (p.His3035Gln) c.3402C>G (p.His1134Gln) | COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31261013G= | CA2422368496 | DMD | c.4074C= (p.His1358=) c.24C= (p.His8=) c.1848C= (p.His616=) n.745C= n.327C= n.746C= n.2720C= c.1083C= (p.His361=) c.9228C= (p.His3076=) c.5196C= (p.His1732=) c.4C= c.-34C= (n.-34C=) n.2889C= n.158C= c.1041C= (p.His347=) c.2316C= (p.His772=) c.9216C= (p.His3072=) n.247C= c.9213C= (p.His3071=) c.9225C= (p.His3075=) c.9204C= (p.His3068=) c.8859C= (p.His2953=) c.5205C= (p.His1735=) c.9099C= (p.His3033=) c.9090C= (p.His3030=) c.9105C= (p.His3035=) c.3402C= (p.His1134=) | |
| X | g.31261013G>T | CA412652563 | DMD | c.4074C>A (p.His1358Gln) c.24C>A (p.His8Gln) c.1848C>A (p.His616Gln) n.745C>A n.327C>A n.746C>A n.2720C>A c.1083C>A (p.His361Gln) c.9228C>A (p.His3076Gln) c.5196C>A (p.His1732Gln) c.4C>A c.-34C>A (n.-34C>A) n.2889C>A n.158C>A c.1041C>A (p.His347Gln) c.2316C>A (p.His772Gln) c.9216C>A (p.His3072Gln) n.247C>A c.9213C>A (p.His3071Gln) c.9225C>A (p.His3075Gln) c.9204C>A (p.His3068Gln) c.8859C>A (p.His2953Gln) c.5205C>A (p.His1735Gln) c.9099C>A (p.His3033Gln) c.9090C>A (p.His3030Gln) c.9105C>A (p.His3035Gln) c.3402C>A (p.His1134Gln) | |
| X | g.31261014T>A | CA412652564 | DMD | c.4073A>T (p.His1358Leu) c.23A>T (p.His8Leu) c.1847A>T (p.His616Leu) n.744A>T n.326A>T n.745A>T n.2719A>T c.1082A>T (p.His361Leu) c.9227A>T (p.His3076Leu) c.5195A>T (p.His1732Leu) c.3A>T c.-35A>T (n.-35A>T) n.2888A>T n.157A>T c.1040A>T (p.His347Leu) c.2315A>T (p.His772Leu) c.9215A>T (p.His3072Leu) n.246A>T c.9212A>T (p.His3071Leu) c.9224A>T (p.His3075Leu) c.9203A>T (p.His3068Leu) c.8858A>T (p.His2953Leu) c.5204A>T (p.His1735Leu) c.9098A>T (p.His3033Leu) c.9089A>T (p.His3030Leu) c.9104A>T (p.His3035Leu) c.3401A>T (p.His1134Leu) | |
| X | g.31261014T>C | CA412652565 | DMD | c.4073A>G (p.His1358Arg) c.23A>G (p.His8Arg) c.1847A>G (p.His616Arg) n.744A>G n.326A>G n.745A>G n.2719A>G c.1082A>G (p.His361Arg) c.9227A>G (p.His3076Arg) c.5195A>G (p.His1732Arg) c.3A>G c.-35A>G (n.-35A>G) n.2888A>G n.157A>G c.1040A>G (p.His347Arg) c.2315A>G (p.His772Arg) c.9215A>G (p.His3072Arg) n.246A>G c.9212A>G (p.His3071Arg) c.9224A>G (p.His3075Arg) c.9203A>G (p.His3068Arg) c.8858A>G (p.His2953Arg) c.5204A>G (p.His1735Arg) c.9098A>G (p.His3033Arg) c.9089A>G (p.His3030Arg) c.9104A>G (p.His3035Arg) c.3401A>G (p.His1134Arg) | |
| X | g.31261014T>G | CA412652566 | DMD | c.4073A>C (p.His1358Pro) c.23A>C (p.His8Pro) c.1847A>C (p.His616Pro) n.744A>C n.326A>C n.745A>C n.2719A>C c.1082A>C (p.His361Pro) c.9227A>C (p.His3076Pro) c.5195A>C (p.His1732Pro) c.3A>C c.-35A>C (n.-35A>C) n.2888A>C n.157A>C c.1040A>C (p.His347Pro) c.2315A>C (p.His772Pro) c.9215A>C (p.His3072Pro) n.246A>C c.9212A>C (p.His3071Pro) c.9224A>C (p.His3075Pro) c.9203A>C (p.His3068Pro) c.8858A>C (p.His2953Pro) c.5204A>C (p.His1735Pro) c.9098A>C (p.His3033Pro) c.9089A>C (p.His3030Pro) c.9104A>C (p.His3035Pro) c.3401A>C (p.His1134Pro) | |
| X | g.31261015G>A | CA412652568 | DMD | c.4072C>T (p.His1358Tyr) c.22C>T (p.His8Tyr) c.1846C>T (p.His616Tyr) n.743C>T n.325C>T n.744C>T n.2718C>T c.1081C>T (p.His361Tyr) c.9226C>T (p.His3076Tyr) c.5194C>T (p.His1732Tyr) c.2C>T c.-36C>T (n.-36C>T) n.2887C>T n.156C>T c.1039C>T (p.His347Tyr) c.2314C>T (p.His772Tyr) c.9214C>T (p.His3072Tyr) n.245C>T c.9211C>T (p.His3071Tyr) c.9223C>T (p.His3075Tyr) c.9202C>T (p.His3068Tyr) c.8857C>T (p.His2953Tyr) c.5203C>T (p.His1735Tyr) c.9097C>T (p.His3033Tyr) c.9088C>T (p.His3030Tyr) c.9103C>T (p.His3035Tyr) c.3400C>T (p.His1134Tyr) | |
| X | g.31261015G>C | CA412652569 | DMD | c.4072C>G (p.His1358Asp) c.22C>G (p.His8Asp) c.1846C>G (p.His616Asp) n.743C>G n.325C>G n.744C>G n.2718C>G c.1081C>G (p.His361Asp) c.9226C>G (p.His3076Asp) c.5194C>G (p.His1732Asp) c.2C>G c.-36C>G (n.-36C>G) n.2887C>G n.156C>G c.1039C>G (p.His347Asp) c.2314C>G (p.His772Asp) c.9214C>G (p.His3072Asp) n.245C>G c.9211C>G (p.His3071Asp) c.9223C>G (p.His3075Asp) c.9202C>G (p.His3068Asp) c.8857C>G (p.His2953Asp) c.5203C>G (p.His1735Asp) c.9097C>G (p.His3033Asp) c.9088C>G (p.His3030Asp) c.9103C>G (p.His3035Asp) c.3400C>G (p.His1134Asp) | |
| X | g.31261015G>T | CA412652567 | DMD | c.4072C>A (p.His1358Asn) c.22C>A (p.His8Asn) c.1846C>A (p.His616Asn) n.743C>A n.325C>A n.744C>A n.2718C>A c.1081C>A (p.His361Asn) c.9226C>A (p.His3076Asn) c.5194C>A (p.His1732Asn) c.2C>A c.-36C>A (n.-36C>A) n.2887C>A n.156C>A c.1039C>A (p.His347Asn) c.2314C>A (p.His772Asn) c.9214C>A (p.His3072Asn) n.245C>A c.9211C>A (p.His3071Asn) c.9223C>A (p.His3075Asn) c.9202C>A (p.His3068Asn) c.8857C>A (p.His2953Asn) c.5203C>A (p.His1735Asn) c.9097C>A (p.His3033Asn) c.9088C>A (p.His3030Asn) c.9103C>A (p.His3035Asn) c.3400C>A (p.His1134Asn) | |
| X | g.31261016G>A | CA515858553 | DMD | c.4071C>T (p.Asn1357=) c.21C>T (p.Gly7=) c.1845C>T (p.Asn615=) n.742C>T n.324C>T n.743C>T n.2717C>T c.1080C>T (p.Asn360=) c.9225C>T (p.Asn3075=) c.5193C>T (p.Asn1731=) c.1C>T c.-37C>T (n.-37C>T) n.2886C>T n.155C>T c.1038C>T (p.Asn346=) c.2313C>T (p.Asn771=) c.9213C>T (p.Asn3071=) n.244C>T c.9210C>T (p.Asn3070=) c.9222C>T (p.Asn3074=) c.9201C>T (p.Asn3067=) c.8856C>T (p.Asn2952=) c.5202C>T (p.Asn1734=) c.9096C>T (p.Asn3032=) c.9087C>T (p.Asn3029=) c.9102C>T (p.Asn3034=) c.3399C>T (p.Asn1133=) | |
| X | g.31261016G>C | CA412652570 | DMD | c.4071C>G (p.Asn1357Lys) c.21C>G (p.Gly7=) c.1845C>G (p.Asn615Lys) n.742C>G n.324C>G n.743C>G n.2717C>G c.1080C>G (p.Asn360Lys) c.9225C>G (p.Asn3075Lys) c.5193C>G (p.Asn1731Lys) c.1C>G c.-37C>G (n.-37C>G) n.2886C>G n.155C>G c.1038C>G (p.Asn346Lys) c.2313C>G (p.Asn771Lys) c.9213C>G (p.Asn3071Lys) n.244C>G c.9210C>G (p.Asn3070Lys) c.9222C>G (p.Asn3074Lys) c.9201C>G (p.Asn3067Lys) c.8856C>G (p.Asn2952Lys) c.5202C>G (p.Asn1734Lys) c.9096C>G (p.Asn3032Lys) c.9087C>G (p.Asn3029Lys) c.9102C>G (p.Asn3034Lys) c.3399C>G (p.Asn1133Lys) | |
| X | g.31261016G>T | CA412652571 | DMD | c.4071C>A (p.Asn1357Lys) c.21C>A (p.Gly7=) c.1845C>A (p.Asn615Lys) n.742C>A n.324C>A n.743C>A n.2717C>A c.1080C>A (p.Asn360Lys) c.9225C>A (p.Asn3075Lys) c.5193C>A (p.Asn1731Lys) c.1C>A c.-37C>A (n.-37C>A) n.2886C>A n.155C>A c.1038C>A (p.Asn346Lys) c.2313C>A (p.Asn771Lys) c.9213C>A (p.Asn3071Lys) n.244C>A c.9210C>A (p.Asn3070Lys) c.9222C>A (p.Asn3074Lys) c.9201C>A (p.Asn3067Lys) c.8856C>A (p.Asn2952Lys) c.5202C>A (p.Asn1734Lys) c.9096C>A (p.Asn3032Lys) c.9087C>A (p.Asn3029Lys) c.9102C>A (p.Asn3034Lys) c.3399C>A (p.Asn1133Lys) | |
| X | g.31261017C>A | CA412652572 | DMD | c.4071-1G>T (n.4071-1G>T) c.21-1G>T (n.21-1G>T) c.1845-1G>T (n.1845-1G>T) n.742-1G>T n.324-1G>T n.743-1G>T n.2717-1G>T c.1080-1G>T (n.1080-1G>T) c.9225-1G>T (n.9225-1G>T) c.5193-1G>T (n.5193-1G>T) c.-37-1G>T (n.-37-1G>T) n.2886-1G>T n.155-1G>T c.1038-1G>T (n.1038-1G>T) c.2313-1G>T (n.2313-1G>T) c.9213-1G>T (n.9213-1G>T) n.244-1G>T c.9210-1G>T (n.9210-1G>T) c.9222-1G>T (n.9222-1G>T) c.9201-1G>T (n.9201-1G>T) c.8856-1G>T (n.8856-1G>T) c.5202-1G>T (n.5202-1G>T) c.9096-1G>T (n.9096-1G>T) c.9087-1G>T (n.9087-1G>T) c.9102-1G>T (n.9102-1G>T) c.3399-1G>T (n.3399-1G>T) | ClinVar |