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.31729650_31729753del | CA2695233047 | DMD | c.2389-5_2487del c.163-5_261del n.1204-5_1302del n.1125+44207_1125+44310del n.1035-5_1133del c.7543-5_7641del c.3511-5_3609del c.532-5_630del c.631-5_729del c.7531-5_7629del c.7528-5_7626del c.7540-5_7638del c.7519-5_7617del c.7174-5_7272del c.3520-5_3618del c.7414-5_7512del c.7405-5_7503del c.7420-5_7518del c.1717-5_1815del | |
| X | g.31729720C>A | CA412657668 | DMD | c.2417G>T (p.Arg806Leu) c.191G>T (p.Arg64Leu) n.1232G>T n.1125+44240G>T n.1063G>T c.7571G>T (p.Arg2524Leu) c.3539G>T (p.Arg1180Leu) c.560G>T (p.Arg187Leu) c.659G>T (p.Arg220Leu) c.7559G>T (p.Arg2520Leu) c.328G>T (n.328G>T) c.7556G>T (p.Arg2519Leu) c.7568G>T (p.Arg2523Leu) c.7547G>T (p.Arg2516Leu) c.7202G>T (p.Arg2401Leu) c.3548G>T (p.Arg1183Leu) c.7442G>T (p.Arg2481Leu) c.7433G>T (p.Arg2478Leu) c.7448G>T (p.Arg2483Leu) c.1745G>T (p.Arg582Leu) | |
| X | g.31729720C= | CA2422533135 | DMD | c.2417G= (p.Arg806=) c.191G= (p.Arg64=) n.1232G= n.1125+44240G= n.1063G= c.7571G= (p.Arg2524=) c.3539G= (p.Arg1180=) c.560G= (p.Arg187=) c.659G= (p.Arg220=) c.7559G= (p.Arg2520=) c.328G= (n.328G=) c.7556G= (p.Arg2519=) c.7568G= (p.Arg2523=) c.7547G= (p.Arg2516=) c.7202G= (p.Arg2401=) c.3548G= (p.Arg1183=) c.7442G= (p.Arg2481=) c.7433G= (p.Arg2478=) c.7448G= (p.Arg2483=) c.1745G= (p.Arg582=) | |
| X | g.31729720C>G | CA412657669 | DMD | c.2417G>C (p.Arg806Pro) c.191G>C (p.Arg64Pro) n.1232G>C n.1125+44240G>C n.1063G>C c.7571G>C (p.Arg2524Pro) c.3539G>C (p.Arg1180Pro) c.560G>C (p.Arg187Pro) c.659G>C (p.Arg220Pro) c.7559G>C (p.Arg2520Pro) c.328G>C (n.328G>C) c.7556G>C (p.Arg2519Pro) c.7568G>C (p.Arg2523Pro) c.7547G>C (p.Arg2516Pro) c.7202G>C (p.Arg2401Pro) c.3548G>C (p.Arg1183Pro) c.7442G>C (p.Arg2481Pro) c.7433G>C (p.Arg2478Pro) c.7448G>C (p.Arg2483Pro) c.1745G>C (p.Arg582Pro) | |
| X | g.31729720C>T | CA211402 | DMD | c.2417G>A (p.Arg806His) c.191G>A (p.Arg64His) n.1232G>A n.1125+44240G>A n.1063G>A c.7571G>A (p.Arg2524His) c.3539G>A (p.Arg1180His) c.560G>A (p.Arg187His) c.659G>A (p.Arg220His) c.7559G>A (p.Arg2520His) c.328G>A (n.328G>A) c.7556G>A (p.Arg2519His) c.7568G>A (p.Arg2523His) c.7547G>A (p.Arg2516His) c.7202G>A (p.Arg2401His) c.3548G>A (p.Arg1183His) c.7442G>A (p.Arg2481His) c.7433G>A (p.Arg2478His) c.7448G>A (p.Arg2483His) c.1745G>A (p.Arg582His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| X | g.31729721G>A | CA10605876 | DMD | c.2416C>T (p.Arg806Cys) c.190C>T (p.Arg64Cys) n.1231C>T n.1125+44239C>T n.1062C>T c.7570C>T (p.Arg2524Cys) c.3538C>T (p.Arg1180Cys) c.559C>T (p.Arg187Cys) c.658C>T (p.Arg220Cys) c.7558C>T (p.Arg2520Cys) c.327C>T (n.327C>T) c.7555C>T (p.Arg2519Cys) c.7567C>T (p.Arg2523Cys) c.7546C>T (p.Arg2516Cys) c.7201C>T (p.Arg2401Cys) c.3547C>T (p.Arg1183Cys) c.7441C>T (p.Arg2481Cys) c.7432C>T (p.Arg2478Cys) c.7447C>T (p.Arg2483Cys) c.1744C>T (p.Arg582Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.31729721G>C | CA412657670 | DMD | c.2416C>G (p.Arg806Gly) c.190C>G (p.Arg64Gly) n.1231C>G n.1125+44239C>G n.1062C>G c.7570C>G (p.Arg2524Gly) c.3538C>G (p.Arg1180Gly) c.559C>G (p.Arg187Gly) c.658C>G (p.Arg220Gly) c.7558C>G (p.Arg2520Gly) c.327C>G (n.327C>G) c.7555C>G (p.Arg2519Gly) c.7567C>G (p.Arg2523Gly) c.7546C>G (p.Arg2516Gly) c.7201C>G (p.Arg2401Gly) c.3547C>G (p.Arg1183Gly) c.7441C>G (p.Arg2481Gly) c.7432C>G (p.Arg2478Gly) c.7447C>G (p.Arg2483Gly) c.1744C>G (p.Arg582Gly) | gnomAD v4 |
| X | g.31729721G= | CA2422533136 | DMD | c.2416C= (p.Arg806=) c.190C= (p.Arg64=) n.1231C= n.1125+44239C= n.1062C= c.7570C= (p.Arg2524=) c.3538C= (p.Arg1180=) c.559C= (p.Arg187=) c.658C= (p.Arg220=) c.7558C= (p.Arg2520=) c.327C= (n.327C=) c.7555C= (p.Arg2519=) c.7567C= (p.Arg2523=) c.7546C= (p.Arg2516=) c.7201C= (p.Arg2401=) c.3547C= (p.Arg1183=) c.7441C= (p.Arg2481=) c.7432C= (p.Arg2478=) c.7447C= (p.Arg2483=) c.1744C= (p.Arg582=) | |
| X | g.31729721G>T | CA412657671 | DMD | c.2416C>A (p.Arg806Ser) c.190C>A (p.Arg64Ser) n.1231C>A n.1125+44239C>A n.1062C>A c.7570C>A (p.Arg2524Ser) c.3538C>A (p.Arg1180Ser) c.559C>A (p.Arg187Ser) c.658C>A (p.Arg220Ser) c.7558C>A (p.Arg2520Ser) c.327C>A (n.327C>A) c.7555C>A (p.Arg2519Ser) c.7567C>A (p.Arg2523Ser) c.7546C>A (p.Arg2516Ser) c.7201C>A (p.Arg2401Ser) c.3547C>A (p.Arg1183Ser) c.7441C>A (p.Arg2481Ser) c.7432C>A (p.Arg2478Ser) c.7447C>A (p.Arg2483Ser) c.1744C>A (p.Arg582Ser) | gnomAD v4 |
| X | g.31729722C>A | CA412657672 | DMD | c.2415G>T (p.Arg805Ser) c.189G>T (p.Arg63Ser) n.1230G>T n.1125+44238G>T n.1061G>T c.7569G>T (p.Arg2523Ser) c.3537G>T (p.Arg1179Ser) c.558G>T (p.Arg186Ser) c.657G>T (p.Arg219Ser) c.7557G>T (p.Arg2519Ser) c.326G>T (n.326G>T) c.7554G>T (p.Arg2518Ser) c.7566G>T (p.Arg2522Ser) c.7545G>T (p.Arg2515Ser) c.7200G>T (p.Arg2400Ser) c.3546G>T (p.Arg1182Ser) c.7440G>T (p.Arg2480Ser) c.7431G>T (p.Arg2477Ser) c.7446G>T (p.Arg2482Ser) c.1743G>T (p.Arg581Ser) | |
| X | g.31729722C= | CA2422533137 | DMD | c.2415G= (p.Arg805=) c.189G= (p.Arg63=) n.1230G= n.1125+44238G= n.1061G= c.7569G= (p.Arg2523=) c.3537G= (p.Arg1179=) c.558G= (p.Arg186=) c.657G= (p.Arg219=) c.7557G= (p.Arg2519=) c.326G= (n.326G=) c.7554G= (p.Arg2518=) c.7566G= (p.Arg2522=) c.7545G= (p.Arg2515=) c.7200G= (p.Arg2400=) c.3546G= (p.Arg1182=) c.7440G= (p.Arg2480=) c.7431G= (p.Arg2477=) c.7446G= (p.Arg2482=) c.1743G= (p.Arg581=) | |
| X | g.31729722C>G | CA412657673 | DMD | c.2415G>C (p.Arg805Ser) c.189G>C (p.Arg63Ser) n.1230G>C n.1125+44238G>C n.1061G>C c.7569G>C (p.Arg2523Ser) c.3537G>C (p.Arg1179Ser) c.558G>C (p.Arg186Ser) c.657G>C (p.Arg219Ser) c.7557G>C (p.Arg2519Ser) c.326G>C (n.326G>C) c.7554G>C (p.Arg2518Ser) c.7566G>C (p.Arg2522Ser) c.7545G>C (p.Arg2515Ser) c.7200G>C (p.Arg2400Ser) c.3546G>C (p.Arg1182Ser) c.7440G>C (p.Arg2480Ser) c.7431G>C (p.Arg2477Ser) c.7446G>C (p.Arg2482Ser) c.1743G>C (p.Arg581Ser) | dbSNP |
| X | g.31729722C>T | CA515859051 | DMD | c.2415G>A (p.Arg805=) c.189G>A (p.Arg63=) n.1230G>A n.1125+44238G>A n.1061G>A c.7569G>A (p.Arg2523=) c.3537G>A (p.Arg1179=) c.558G>A (p.Arg186=) c.657G>A (p.Arg219=) c.7557G>A (p.Arg2519=) c.326G>A (n.326G>A) c.7554G>A (p.Arg2518=) c.7566G>A (p.Arg2522=) c.7545G>A (p.Arg2515=) c.7200G>A (p.Arg2400=) c.3546G>A (p.Arg1182=) c.7440G>A (p.Arg2480=) c.7431G>A (p.Arg2477=) c.7446G>A (p.Arg2482=) c.1743G>A (p.Arg581=) | |
| X | g.31729723C>A | CA412657674 | DMD | c.2414G>T (p.Arg805Met) c.188G>T (p.Arg63Met) n.1229G>T n.1125+44237G>T n.1060G>T c.7568G>T (p.Arg2523Met) c.3536G>T (p.Arg1179Met) c.557G>T (p.Arg186Met) c.656G>T (p.Arg219Met) c.7556G>T (p.Arg2519Met) c.325G>T (n.325G>T) c.7553G>T (p.Arg2518Met) c.7565G>T (p.Arg2522Met) c.7544G>T (p.Arg2515Met) c.7199G>T (p.Arg2400Met) c.3545G>T (p.Arg1182Met) c.7439G>T (p.Arg2480Met) c.7430G>T (p.Arg2477Met) c.7445G>T (p.Arg2482Met) c.1742G>T (p.Arg581Met) | |
| X | g.31729723C>G | CA412657675 | DMD | c.2414G>C (p.Arg805Thr) c.188G>C (p.Arg63Thr) n.1229G>C n.1125+44237G>C n.1060G>C c.7568G>C (p.Arg2523Thr) c.3536G>C (p.Arg1179Thr) c.557G>C (p.Arg186Thr) c.656G>C (p.Arg219Thr) c.7556G>C (p.Arg2519Thr) c.325G>C (n.325G>C) c.7553G>C (p.Arg2518Thr) c.7565G>C (p.Arg2522Thr) c.7544G>C (p.Arg2515Thr) c.7199G>C (p.Arg2400Thr) c.3545G>C (p.Arg1182Thr) c.7439G>C (p.Arg2480Thr) c.7430G>C (p.Arg2477Thr) c.7445G>C (p.Arg2482Thr) c.1742G>C (p.Arg581Thr) | |
| X | g.31729723C>T | CA412657676 | DMD | c.2414G>A (p.Arg805Lys) c.188G>A (p.Arg63Lys) n.1229G>A n.1125+44237G>A n.1060G>A c.7568G>A (p.Arg2523Lys) c.3536G>A (p.Arg1179Lys) c.557G>A (p.Arg186Lys) c.656G>A (p.Arg219Lys) c.7556G>A (p.Arg2519Lys) c.325G>A (n.325G>A) c.7553G>A (p.Arg2518Lys) c.7565G>A (p.Arg2522Lys) c.7544G>A (p.Arg2515Lys) c.7199G>A (p.Arg2400Lys) c.3545G>A (p.Arg1182Lys) c.7439G>A (p.Arg2480Lys) c.7430G>A (p.Arg2477Lys) c.7445G>A (p.Arg2482Lys) c.1742G>A (p.Arg581Lys) | |
| X | g.31729724T>A | CA412657677 | DMD | c.2413A>T (p.Arg805Trp) c.187A>T (p.Arg63Trp) n.1228A>T n.1125+44236A>T n.1059A>T c.7567A>T (p.Arg2523Trp) c.3535A>T (p.Arg1179Trp) c.556A>T (p.Arg186Trp) c.655A>T (p.Arg219Trp) c.7555A>T (p.Arg2519Trp) c.324A>T (n.324A>T) c.7552A>T (p.Arg2518Trp) c.7564A>T (p.Arg2522Trp) c.7543A>T (p.Arg2515Trp) c.7198A>T (p.Arg2400Trp) c.3544A>T (p.Arg1182Trp) c.7438A>T (p.Arg2480Trp) c.7429A>T (p.Arg2477Trp) c.7444A>T (p.Arg2482Trp) c.1741A>T (p.Arg581Trp) | |
| X | g.31729724T>C | CA412657678 | DMD | c.2413A>G (p.Arg805Gly) c.187A>G (p.Arg63Gly) n.1228A>G n.1125+44236A>G n.1059A>G c.7567A>G (p.Arg2523Gly) c.3535A>G (p.Arg1179Gly) c.556A>G (p.Arg186Gly) c.655A>G (p.Arg219Gly) c.7555A>G (p.Arg2519Gly) c.324A>G (n.324A>G) c.7552A>G (p.Arg2518Gly) c.7564A>G (p.Arg2522Gly) c.7543A>G (p.Arg2515Gly) c.7198A>G (p.Arg2400Gly) c.3544A>G (p.Arg1182Gly) c.7438A>G (p.Arg2480Gly) c.7429A>G (p.Arg2477Gly) c.7444A>G (p.Arg2482Gly) c.1741A>G (p.Arg581Gly) | |
| X | g.31729724T>G | CA515859052 | DMD | c.2413A>C (p.Arg805=) c.187A>C (p.Arg63=) n.1228A>C n.1125+44236A>C n.1059A>C c.7567A>C (p.Arg2523=) c.3535A>C (p.Arg1179=) c.556A>C (p.Arg186=) c.655A>C (p.Arg219=) c.7555A>C (p.Arg2519=) c.324A>C (n.324A>C) c.7552A>C (p.Arg2518=) c.7564A>C (p.Arg2522=) c.7543A>C (p.Arg2515=) c.7198A>C (p.Arg2400=) c.3544A>C (p.Arg1182=) c.7438A>C (p.Arg2480=) c.7429A>C (p.Arg2477=) c.7444A>C (p.Arg2482=) c.1741A>C (p.Arg581=) | |
| X | g.31729725C>A | CA412657679 | DMD | c.2412G>T (p.Gln804His) c.186G>T (p.Gln62His) n.1227G>T n.1125+44235G>T n.1058G>T c.7566G>T (p.Gln2522His) c.3534G>T (p.Gln1178His) c.555G>T (p.Gln185His) c.654G>T (p.Gln218His) c.7554G>T (p.Gln2518His) c.323G>T (n.323G>T) c.7551G>T (p.Gln2517His) c.7563G>T (p.Gln2521His) c.7542G>T (p.Gln2514His) c.7197G>T (p.Gln2399His) c.3543G>T (p.Gln1181His) c.7437G>T (p.Gln2479His) c.7428G>T (p.Gln2476His) c.7443G>T (p.Gln2481His) c.1740G>T (p.Gln580His) | |
| X | g.31729725C= | CA2422533138 | DMD | c.2412G= (p.Gln804=) c.186G= (p.Gln62=) n.1227G= n.1125+44235G= n.1058G= c.7566G= (p.Gln2522=) c.3534G= (p.Gln1178=) c.555G= (p.Gln185=) c.654G= (p.Gln218=) c.7554G= (p.Gln2518=) c.323G= (n.323G=) c.7551G= (p.Gln2517=) c.7563G= (p.Gln2521=) c.7542G= (p.Gln2514=) c.7197G= (p.Gln2399=) c.3543G= (p.Gln1181=) c.7437G= (p.Gln2479=) c.7428G= (p.Gln2476=) c.7443G= (p.Gln2481=) c.1740G= (p.Gln580=) | |
| X | g.31729725C>G | CA412657680 | DMD | c.2412G>C (p.Gln804His) c.186G>C (p.Gln62His) n.1227G>C n.1125+44235G>C n.1058G>C c.7566G>C (p.Gln2522His) c.3534G>C (p.Gln1178His) c.555G>C (p.Gln185His) c.654G>C (p.Gln218His) c.7554G>C (p.Gln2518His) c.323G>C (n.323G>C) c.7551G>C (p.Gln2517His) c.7563G>C (p.Gln2521His) c.7542G>C (p.Gln2514His) c.7197G>C (p.Gln2399His) c.3543G>C (p.Gln1181His) c.7437G>C (p.Gln2479His) c.7428G>C (p.Gln2476His) c.7443G>C (p.Gln2481His) c.1740G>C (p.Gln580His) | |
| X | g.31729725C>T | CA328466937 | DMD | c.2412G>A (p.Gln804=) c.186G>A (p.Gln62=) n.1227G>A n.1125+44235G>A n.1058G>A c.7566G>A (p.Gln2522=) c.3534G>A (p.Gln1178=) c.555G>A (p.Gln185=) c.654G>A (p.Gln218=) c.7554G>A (p.Gln2518=) c.323G>A (n.323G>A) c.7551G>A (p.Gln2517=) c.7563G>A (p.Gln2521=) c.7542G>A (p.Gln2514=) c.7197G>A (p.Gln2399=) c.3543G>A (p.Gln1181=) c.7437G>A (p.Gln2479=) c.7428G>A (p.Gln2476=) c.7443G>A (p.Gln2481=) c.1740G>A (p.Gln580=) | dbSNP |
| X | g.31729726del | CA2695233051 | DMD | c.2411del (p.Gln804ArgfsTer16) c.185del (p.Gln62ArgfsTer16) n.1226del n.1125+44234del n.1057del c.7565del (p.Gln2522ArgfsTer16) c.3533del (p.Gln1178ArgfsTer16) c.554del (p.Gln185ArgfsTer16) c.653del (p.Gln218ArgfsTer16) c.7553del (p.Gln2518ArgfsTer16) c.322del (n.322del) c.7550del (p.Gln2517ArgfsTer16) c.7562del (p.Gln2521ArgfsTer16) c.7541del (p.Gln2514ArgfsTer16) c.7196del (p.Gln2399ArgfsTer16) c.3542del (p.Gln1181ArgfsTer16) c.7436del (p.Gln2479ArgfsTer16) c.7427del (p.Gln2476ArgfsTer16) c.7442del (p.Gln2481ArgfsTer16) c.1739del (p.Gln580ArgfsTer16) | |
| X | g.31729726T>A | CA412657681 | DMD | c.2411A>T (p.Gln804Leu) c.185A>T (p.Gln62Leu) n.1226A>T n.1125+44234A>T n.1057A>T c.7565A>T (p.Gln2522Leu) c.3533A>T (p.Gln1178Leu) c.554A>T (p.Gln185Leu) c.653A>T (p.Gln218Leu) c.7553A>T (p.Gln2518Leu) c.322A>T (n.322A>T) c.7550A>T (p.Gln2517Leu) c.7562A>T (p.Gln2521Leu) c.7541A>T (p.Gln2514Leu) c.7196A>T (p.Gln2399Leu) c.3542A>T (p.Gln1181Leu) c.7436A>T (p.Gln2479Leu) c.7427A>T (p.Gln2476Leu) c.7442A>T (p.Gln2481Leu) c.1739A>T (p.Gln580Leu) | |
| X | g.31729726T>C | CA412657683 | DMD | c.2411A>G (p.Gln804Arg) c.185A>G (p.Gln62Arg) n.1226A>G n.1125+44234A>G n.1057A>G c.7565A>G (p.Gln2522Arg) c.3533A>G (p.Gln1178Arg) c.554A>G (p.Gln185Arg) c.653A>G (p.Gln218Arg) c.7553A>G (p.Gln2518Arg) c.322A>G (n.322A>G) c.7550A>G (p.Gln2517Arg) c.7562A>G (p.Gln2521Arg) c.7541A>G (p.Gln2514Arg) c.7196A>G (p.Gln2399Arg) c.3542A>G (p.Gln1181Arg) c.7436A>G (p.Gln2479Arg) c.7427A>G (p.Gln2476Arg) c.7442A>G (p.Gln2481Arg) c.1739A>G (p.Gln580Arg) | |
| X | g.31729726T>G | CA412657682 | DMD | c.2411A>C (p.Gln804Pro) c.185A>C (p.Gln62Pro) n.1226A>C n.1125+44234A>C n.1057A>C c.7565A>C (p.Gln2522Pro) c.3533A>C (p.Gln1178Pro) c.554A>C (p.Gln185Pro) c.653A>C (p.Gln218Pro) c.7553A>C (p.Gln2518Pro) c.322A>C (n.322A>C) c.7550A>C (p.Gln2517Pro) c.7562A>C (p.Gln2521Pro) c.7541A>C (p.Gln2514Pro) c.7196A>C (p.Gln2399Pro) c.3542A>C (p.Gln1181Pro) c.7436A>C (p.Gln2479Pro) c.7427A>C (p.Gln2476Pro) c.7442A>C (p.Gln2481Pro) c.1739A>C (p.Gln580Pro) | |
| X | g.31729727G>A | CA412657684 | DMD | c.2410C>T (p.Gln804Ter) c.184C>T (p.Gln62Ter) n.1225C>T n.1125+44233C>T n.1056C>T c.7564C>T (p.Gln2522Ter) c.3532C>T (p.Gln1178Ter) c.553C>T (p.Gln185Ter) c.652C>T (p.Gln218Ter) c.7552C>T (p.Gln2518Ter) c.321C>T (n.321C>T) c.7549C>T (p.Gln2517Ter) c.7561C>T (p.Gln2521Ter) c.7540C>T (p.Gln2514Ter) c.7195C>T (p.Gln2399Ter) c.3541C>T (p.Gln1181Ter) c.7435C>T (p.Gln2479Ter) c.7426C>T (p.Gln2476Ter) c.7441C>T (p.Gln2481Ter) c.1738C>T (p.Gln580Ter) | ClinVar dbSNP |
| X | g.31729727G>C | CA412657685 | DMD | c.2410C>G (p.Gln804Glu) c.184C>G (p.Gln62Glu) n.1225C>G n.1125+44233C>G n.1056C>G c.7564C>G (p.Gln2522Glu) c.3532C>G (p.Gln1178Glu) c.553C>G (p.Gln185Glu) c.652C>G (p.Gln218Glu) c.7552C>G (p.Gln2518Glu) c.321C>G (n.321C>G) c.7549C>G (p.Gln2517Glu) c.7561C>G (p.Gln2521Glu) c.7540C>G (p.Gln2514Glu) c.7195C>G (p.Gln2399Glu) c.3541C>G (p.Gln1181Glu) c.7435C>G (p.Gln2479Glu) c.7426C>G (p.Gln2476Glu) c.7441C>G (p.Gln2481Glu) c.1738C>G (p.Gln580Glu) | |
| X | g.31729727G= | CA2422533139 | DMD | c.2410C= (p.Gln804=) c.184C= (p.Gln62=) n.1225C= n.1125+44233C= n.1056C= c.7564C= (p.Gln2522=) c.3532C= (p.Gln1178=) c.553C= (p.Gln185=) c.652C= (p.Gln218=) c.7552C= (p.Gln2518=) c.321C= (n.321C=) c.7549C= (p.Gln2517=) c.7561C= (p.Gln2521=) c.7540C= (p.Gln2514=) c.7195C= (p.Gln2399=) c.3541C= (p.Gln1181=) c.7435C= (p.Gln2479=) c.7426C= (p.Gln2476=) c.7441C= (p.Gln2481=) c.1738C= (p.Gln580=) | |
| X | g.31729727G>T | CA412657686 | DMD | c.2410C>A (p.Gln804Lys) c.184C>A (p.Gln62Lys) n.1225C>A n.1125+44233C>A n.1056C>A c.7564C>A (p.Gln2522Lys) c.3532C>A (p.Gln1178Lys) c.553C>A (p.Gln185Lys) c.652C>A (p.Gln218Lys) c.7552C>A (p.Gln2518Lys) c.321C>A (n.321C>A) c.7549C>A (p.Gln2517Lys) c.7561C>A (p.Gln2521Lys) c.7540C>A (p.Gln2514Lys) c.7195C>A (p.Gln2399Lys) c.3541C>A (p.Gln1181Lys) c.7435C>A (p.Gln2479Lys) c.7426C>A (p.Gln2476Lys) c.7441C>A (p.Gln2481Lys) c.1738C>A (p.Gln580Lys) | |
| X | g.31729728T>A | CA412657687 | DMD | c.2409A>T (p.Glu803Asp) c.183A>T (p.Glu61Asp) n.1224A>T n.1125+44232A>T n.1055A>T c.7563A>T (p.Glu2521Asp) c.3531A>T (p.Glu1177Asp) c.552A>T (p.Glu184Asp) c.651A>T (p.Glu217Asp) c.7551A>T (p.Glu2517Asp) c.320A>T (n.320A>T) c.7548A>T (p.Glu2516Asp) c.7560A>T (p.Glu2520Asp) c.7539A>T (p.Glu2513Asp) c.7194A>T (p.Glu2398Asp) c.3540A>T (p.Glu1180Asp) c.7434A>T (p.Glu2478Asp) c.7425A>T (p.Glu2475Asp) c.7440A>T (p.Glu2480Asp) c.1737A>T (p.Glu579Asp) | |
| X | g.31729728T>C | CA515859053 | DMD | c.2409A>G (p.Glu803=) c.183A>G (p.Glu61=) n.1224A>G n.1125+44232A>G n.1055A>G c.7563A>G (p.Glu2521=) c.3531A>G (p.Glu1177=) c.552A>G (p.Glu184=) c.651A>G (p.Glu217=) c.7551A>G (p.Glu2517=) c.320A>G (n.320A>G) c.7548A>G (p.Glu2516=) c.7560A>G (p.Glu2520=) c.7539A>G (p.Glu2513=) c.7194A>G (p.Glu2398=) c.3540A>G (p.Glu1180=) c.7434A>G (p.Glu2478=) c.7425A>G (p.Glu2475=) c.7440A>G (p.Glu2480=) c.1737A>G (p.Glu579=) | |
| X | g.31729728T>G | CA412657688 | DMD | c.2409A>C (p.Glu803Asp) c.183A>C (p.Glu61Asp) n.1224A>C n.1125+44232A>C n.1055A>C c.7563A>C (p.Glu2521Asp) c.3531A>C (p.Glu1177Asp) c.552A>C (p.Glu184Asp) c.651A>C (p.Glu217Asp) c.7551A>C (p.Glu2517Asp) c.320A>C (n.320A>C) c.7548A>C (p.Glu2516Asp) c.7560A>C (p.Glu2520Asp) c.7539A>C (p.Glu2513Asp) c.7194A>C (p.Glu2398Asp) c.3540A>C (p.Glu1180Asp) c.7434A>C (p.Glu2478Asp) c.7425A>C (p.Glu2475Asp) c.7440A>C (p.Glu2480Asp) c.1737A>C (p.Glu579Asp) | |
| X | g.31729729T>A | CA412657689 | DMD | c.2408A>T (p.Glu803Val) c.182A>T (p.Glu61Val) n.1223A>T n.1125+44231A>T n.1054A>T c.7562A>T (p.Glu2521Val) c.3530A>T (p.Glu1177Val) c.551A>T (p.Glu184Val) c.650A>T (p.Glu217Val) c.7550A>T (p.Glu2517Val) c.319A>T (n.319A>T) c.7547A>T (p.Glu2516Val) c.7559A>T (p.Glu2520Val) c.7538A>T (p.Glu2513Val) c.7193A>T (p.Glu2398Val) c.3539A>T (p.Glu1180Val) c.7433A>T (p.Glu2478Val) c.7424A>T (p.Glu2475Val) c.7439A>T (p.Glu2480Val) c.1736A>T (p.Glu579Val) | |
| X | g.31729729T>C | CA412657690 | DMD | c.2408A>G (p.Glu803Gly) c.182A>G (p.Glu61Gly) n.1223A>G n.1125+44231A>G n.1054A>G c.7562A>G (p.Glu2521Gly) c.3530A>G (p.Glu1177Gly) c.551A>G (p.Glu184Gly) c.650A>G (p.Glu217Gly) c.7550A>G (p.Glu2517Gly) c.319A>G (n.319A>G) c.7547A>G (p.Glu2516Gly) c.7559A>G (p.Glu2520Gly) c.7538A>G (p.Glu2513Gly) c.7193A>G (p.Glu2398Gly) c.3539A>G (p.Glu1180Gly) c.7433A>G (p.Glu2478Gly) c.7424A>G (p.Glu2475Gly) c.7439A>G (p.Glu2480Gly) c.1736A>G (p.Glu579Gly) | |
| X | g.31729729T>G | CA412657691 | DMD | c.2408A>C (p.Glu803Ala) c.182A>C (p.Glu61Ala) n.1223A>C n.1125+44231A>C n.1054A>C c.7562A>C (p.Glu2521Ala) c.3530A>C (p.Glu1177Ala) c.551A>C (p.Glu184Ala) c.650A>C (p.Glu217Ala) c.7550A>C (p.Glu2517Ala) c.319A>C (n.319A>C) c.7547A>C (p.Glu2516Ala) c.7559A>C (p.Glu2520Ala) c.7538A>C (p.Glu2513Ala) c.7193A>C (p.Glu2398Ala) c.3539A>C (p.Glu1180Ala) c.7433A>C (p.Glu2478Ala) c.7424A>C (p.Glu2475Ala) c.7439A>C (p.Glu2480Ala) c.1736A>C (p.Glu579Ala) | |
| X | g.31729730C>A | CA412657692 | DMD | c.2407G>T (p.Glu803Ter) c.181G>T (p.Glu61Ter) n.1222G>T n.1125+44230G>T n.1053G>T c.7561G>T (p.Glu2521Ter) c.3529G>T (p.Glu1177Ter) c.550G>T (p.Glu184Ter) c.649G>T (p.Glu217Ter) c.7549G>T (p.Glu2517Ter) c.318G>T (n.318G>T) c.7546G>T (p.Glu2516Ter) c.7558G>T (p.Glu2520Ter) c.7537G>T (p.Glu2513Ter) c.7192G>T (p.Glu2398Ter) c.3538G>T (p.Glu1180Ter) c.7432G>T (p.Glu2478Ter) c.7423G>T (p.Glu2475Ter) c.7438G>T (p.Glu2480Ter) c.1735G>T (p.Glu579Ter) | dbSNP |
| X | g.31729730C= | CA2422533140 | DMD | c.2407G= (p.Glu803=) c.181G= (p.Glu61=) n.1222G= n.1125+44230G= n.1053G= c.7561G= (p.Glu2521=) c.3529G= (p.Glu1177=) c.550G= (p.Glu184=) c.649G= (p.Glu217=) c.7549G= (p.Glu2517=) c.318G= (n.318G=) c.7546G= (p.Glu2516=) c.7558G= (p.Glu2520=) c.7537G= (p.Glu2513=) c.7192G= (p.Glu2398=) c.3538G= (p.Glu1180=) c.7432G= (p.Glu2478=) c.7423G= (p.Glu2475=) c.7438G= (p.Glu2480=) c.1735G= (p.Glu579=) | |
| X | g.31729730C>G | CA412657693 | DMD | c.2407G>C (p.Glu803Gln) c.181G>C (p.Glu61Gln) n.1222G>C n.1125+44230G>C n.1053G>C c.7561G>C (p.Glu2521Gln) c.3529G>C (p.Glu1177Gln) c.550G>C (p.Glu184Gln) c.649G>C (p.Glu217Gln) c.7549G>C (p.Glu2517Gln) c.318G>C (n.318G>C) c.7546G>C (p.Glu2516Gln) c.7558G>C (p.Glu2520Gln) c.7537G>C (p.Glu2513Gln) c.7192G>C (p.Glu2398Gln) c.3538G>C (p.Glu1180Gln) c.7432G>C (p.Glu2478Gln) c.7423G>C (p.Glu2475Gln) c.7438G>C (p.Glu2480Gln) c.1735G>C (p.Glu579Gln) | |
| X | g.31729730C>T | CA412657694 | DMD | c.2407G>A (p.Glu803Lys) c.181G>A (p.Glu61Lys) n.1222G>A n.1125+44230G>A n.1053G>A c.7561G>A (p.Glu2521Lys) c.3529G>A (p.Glu1177Lys) c.550G>A (p.Glu184Lys) c.649G>A (p.Glu217Lys) c.7549G>A (p.Glu2517Lys) c.318G>A (n.318G>A) c.7546G>A (p.Glu2516Lys) c.7558G>A (p.Glu2520Lys) c.7537G>A (p.Glu2513Lys) c.7192G>A (p.Glu2398Lys) c.3538G>A (p.Glu1180Lys) c.7432G>A (p.Glu2478Lys) c.7423G>A (p.Glu2475Lys) c.7438G>A (p.Glu2480Lys) c.1735G>A (p.Glu579Lys) | ClinVar dbSNP gnomAD v4 |
| X | g.31729731C>A | CA412657696 | DMD | c.2406G>T (p.Leu802Phe) c.180G>T (p.Leu60Phe) n.1221G>T n.1125+44229G>T n.1052G>T c.7560G>T (p.Leu2520Phe) c.3528G>T (p.Leu1176Phe) c.549G>T (p.Leu183Phe) c.648G>T (p.Leu216Phe) c.7548G>T (p.Leu2516Phe) c.317G>T (n.317G>T) c.7545G>T (p.Leu2515Phe) c.7557G>T (p.Leu2519Phe) c.7536G>T (p.Leu2512Phe) c.7191G>T (p.Leu2397Phe) c.3537G>T (p.Leu1179Phe) c.7431G>T (p.Leu2477Phe) c.7422G>T (p.Leu2474Phe) c.7437G>T (p.Leu2479Phe) c.1734G>T (p.Leu578Phe) | |
| X | g.31729731C>G | CA412657695 | DMD | c.2406G>C (p.Leu802Phe) c.180G>C (p.Leu60Phe) n.1221G>C n.1125+44229G>C n.1052G>C c.7560G>C (p.Leu2520Phe) c.3528G>C (p.Leu1176Phe) c.549G>C (p.Leu183Phe) c.648G>C (p.Leu216Phe) c.7548G>C (p.Leu2516Phe) c.317G>C (n.317G>C) c.7545G>C (p.Leu2515Phe) c.7557G>C (p.Leu2519Phe) c.7536G>C (p.Leu2512Phe) c.7191G>C (p.Leu2397Phe) c.3537G>C (p.Leu1179Phe) c.7431G>C (p.Leu2477Phe) c.7422G>C (p.Leu2474Phe) c.7437G>C (p.Leu2479Phe) c.1734G>C (p.Leu578Phe) | gnomAD v4 |
| X | g.31729731C>T | CA515859054 | DMD | c.2406G>A (p.Leu802=) c.180G>A (p.Leu60=) n.1221G>A n.1125+44229G>A n.1052G>A c.7560G>A (p.Leu2520=) c.3528G>A (p.Leu1176=) c.549G>A (p.Leu183=) c.648G>A (p.Leu216=) c.7548G>A (p.Leu2516=) c.317G>A (n.317G>A) c.7545G>A (p.Leu2515=) c.7557G>A (p.Leu2519=) c.7536G>A (p.Leu2512=) c.7191G>A (p.Leu2397=) c.3537G>A (p.Leu1179=) c.7431G>A (p.Leu2477=) c.7422G>A (p.Leu2474=) c.7437G>A (p.Leu2479=) c.1734G>A (p.Leu578=) | |
| X | g.31729732A>C | CA412657697 | DMD | c.2405T>G (p.Leu802Trp) c.179T>G (p.Leu60Trp) n.1220T>G n.1125+44228T>G n.1051T>G c.7559T>G (p.Leu2520Trp) c.3527T>G (p.Leu1176Trp) c.548T>G (p.Leu183Trp) c.647T>G (p.Leu216Trp) c.7547T>G (p.Leu2516Trp) c.316T>G (n.316T>G) c.7544T>G (p.Leu2515Trp) c.7556T>G (p.Leu2519Trp) c.7535T>G (p.Leu2512Trp) c.7190T>G (p.Leu2397Trp) c.3536T>G (p.Leu1179Trp) c.7430T>G (p.Leu2477Trp) c.7421T>G (p.Leu2474Trp) c.7436T>G (p.Leu2479Trp) c.1733T>G (p.Leu578Trp) | |
| X | g.31729732A>G | CA412657699 | DMD | c.2405T>C (p.Leu802Ser) c.179T>C (p.Leu60Ser) n.1220T>C n.1125+44228T>C n.1051T>C c.7559T>C (p.Leu2520Ser) c.3527T>C (p.Leu1176Ser) c.548T>C (p.Leu183Ser) c.647T>C (p.Leu216Ser) c.7547T>C (p.Leu2516Ser) c.316T>C (n.316T>C) c.7544T>C (p.Leu2515Ser) c.7556T>C (p.Leu2519Ser) c.7535T>C (p.Leu2512Ser) c.7190T>C (p.Leu2397Ser) c.3536T>C (p.Leu1179Ser) c.7430T>C (p.Leu2477Ser) c.7421T>C (p.Leu2474Ser) c.7436T>C (p.Leu2479Ser) c.1733T>C (p.Leu578Ser) | |
| X | g.31729732A>T | CA412657698 | DMD | c.2405T>A (p.Leu802Ter) c.179T>A (p.Leu60Ter) n.1220T>A n.1125+44228T>A n.1051T>A c.7559T>A (p.Leu2520Ter) c.3527T>A (p.Leu1176Ter) c.548T>A (p.Leu183Ter) c.647T>A (p.Leu216Ter) c.7547T>A (p.Leu2516Ter) c.316T>A (n.316T>A) c.7544T>A (p.Leu2515Ter) c.7556T>A (p.Leu2519Ter) c.7535T>A (p.Leu2512Ter) c.7190T>A (p.Leu2397Ter) c.3536T>A (p.Leu1179Ter) c.7430T>A (p.Leu2477Ter) c.7421T>A (p.Leu2474Ter) c.7436T>A (p.Leu2479Ter) c.1733T>A (p.Leu578Ter) | |
| X | g.31729734del | CA2695233054 | DMD | c.2405del (p.Leu802TrpfsTer18) c.179del (p.Leu60TrpfsTer18) n.1220del n.1125+44228del n.1051del c.7559del (p.Leu2520TrpfsTer18) c.3527del (p.Leu1176TrpfsTer18) c.548del (p.Leu183TrpfsTer18) c.647del (p.Leu216TrpfsTer18) c.7547del (p.Leu2516TrpfsTer18) c.316del (n.316del) c.7544del (p.Leu2515TrpfsTer18) c.7556del (p.Leu2519TrpfsTer18) c.7535del (p.Leu2512TrpfsTer18) c.7190del (p.Leu2397TrpfsTer18) c.3536del (p.Leu1179TrpfsTer18) c.7430del (p.Leu2477TrpfsTer18) c.7421del (p.Leu2474TrpfsTer18) c.7436del (p.Leu2479TrpfsTer18) c.1733del (p.Leu578TrpfsTer18) | |
| X | g.31729733A>C | CA412657700 | DMD | c.2404T>G (p.Leu802Val) c.178T>G (p.Leu60Val) n.1219T>G n.1125+44227T>G n.1050T>G c.7558T>G (p.Leu2520Val) c.3526T>G (p.Leu1176Val) c.547T>G (p.Leu183Val) c.646T>G (p.Leu216Val) c.7546T>G (p.Leu2516Val) c.315T>G (n.315T>G) c.7543T>G (p.Leu2515Val) c.7555T>G (p.Leu2519Val) c.7534T>G (p.Leu2512Val) c.7189T>G (p.Leu2397Val) c.3535T>G (p.Leu1179Val) c.7429T>G (p.Leu2477Val) c.7420T>G (p.Leu2474Val) c.7435T>G (p.Leu2479Val) c.1732T>G (p.Leu578Val) | |
| X | g.31729733A>G | CA515859055 | DMD | c.2404T>C (p.Leu802=) c.178T>C (p.Leu60=) n.1219T>C n.1125+44227T>C n.1050T>C c.7558T>C (p.Leu2520=) c.3526T>C (p.Leu1176=) c.547T>C (p.Leu183=) c.646T>C (p.Leu216=) c.7546T>C (p.Leu2516=) c.315T>C (n.315T>C) c.7543T>C (p.Leu2515=) c.7555T>C (p.Leu2519=) c.7534T>C (p.Leu2512=) c.7189T>C (p.Leu2397=) c.3535T>C (p.Leu1179=) c.7429T>C (p.Leu2477=) c.7420T>C (p.Leu2474=) c.7435T>C (p.Leu2479=) c.1732T>C (p.Leu578=) |