Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71566439_71570715del | CA1139532913 | DYSF | c.2512-1512_3148del c.2566-1512_3202del c.2515-1512_3151del c.2563-1512_3199del c.2608-1512_3244del c.2473-1512_3109del c.2605-1512_3241del c.2470-1512_3106del n.2766-1512_3402del | |
2 | g.71566455_71570716del | CA915942535 | DYSF | c.2512-1496_3149del c.2566-1496_3203del c.2515-1496_3152del c.2563-1496_3200del c.2608-1496_3245del c.2473-1496_3110del c.2605-1496_3242del c.2470-1496_3107del n.2766-1496_3403del | ClinVar |
2 | g.71566456_71570715del | CA891842855 | DYSF | c.2512-1495_3148del c.2566-1495_3202del c.2515-1495_3151del c.2563-1495_3199del c.2608-1495_3244del c.2473-1495_3109del c.2605-1495_3241del c.2470-1495_3106del n.2766-1495_3402del | ClinVar |
2 | g.71567951_71570741del | CA2832612270 | DYSF | c.2512_3174del c.2566_3228del c.2515_3177del c.2563_3225del c.2608_3270del c.2473_3135del c.2605_3267del c.2470_3132del n.2766_3428del | |
2 | g.71570686_71570690del | CA2582342406 | DYSF | c.545_549del (p.Arg182LeufsTer?) c.3119_3123del (p.Arg1040LeufsTer?) c.3173_3177del (p.Arg1058LeufsTer?) c.3122_3126del (p.Arg1041LeufsTer?) c.3170_3174del (p.Arg1057LeufsTer?) c.3215_3219del (p.Arg1072LeufsTer?) c.3080_3084del (p.Arg1027LeufsTer?) c.3212_3216del (p.Arg1071LeufsTer?) n.285_289del c.3077_3081del (p.Arg1026LeufsTer?) n.3373_3377del | ClinVar gnomAD v4 |
2 | g.71570687_71570704del | CA2659549635 | DYSF | c.546_563del (p.Arg183_Arg188del) c.3120_3137del (p.Arg1041_Arg1046del) c.3174_3191del (p.Arg1059_Arg1064del) c.3123_3140del (p.Arg1042_Arg1047del) c.3171_3188del (p.Arg1058_Arg1063del) c.3216_3233del (p.Arg1073_Arg1078del) c.3081_3098del (p.Arg1028_Arg1033del) c.3213_3230del (p.Arg1072_Arg1077del) n.286_303del c.3078_3095del (p.Arg1027_Arg1032del) n.3374_3391del | gnomAD v4 |
2 | g.71570688C>A | CA347217067 | DYSF | c.547C>A (p.Arg183Ser) c.3121C>A (p.Arg1041Ser) c.3175C>A (p.Arg1059Ser) c.3124C>A (p.Arg1042Ser) c.3172C>A (p.Arg1058Ser) c.3217C>A (p.Arg1073Ser) c.3082C>A (p.Arg1028Ser) c.3214C>A (p.Arg1072Ser) n.287C>A c.3079C>A (p.Arg1027Ser) n.3375C>A | |
2 | g.71570688C= | CA1260104124 | DYSF | c.547C= (p.Arg183=) c.3121C= (p.Arg1041=) c.3175C= (p.Arg1059=) c.3124C= (p.Arg1042=) c.3172C= (p.Arg1058=) c.3217C= (p.Arg1073=) c.3082C= (p.Arg1028=) c.3214C= (p.Arg1072=) n.287C= c.3079C= (p.Arg1027=) n.3375C= | |
2 | g.71570688C>G | CA347217068 | DYSF | c.547C>G (p.Arg183Gly) c.3121C>G (p.Arg1041Gly) c.3175C>G (p.Arg1059Gly) c.3124C>G (p.Arg1042Gly) c.3172C>G (p.Arg1058Gly) c.3217C>G (p.Arg1073Gly) c.3082C>G (p.Arg1028Gly) c.3214C>G (p.Arg1072Gly) n.287C>G c.3079C>G (p.Arg1027Gly) n.3375C>G | |
2 | g.71570688C>T | CA1706454 | DYSF | c.547C>T (p.Arg183Cys) c.3121C>T (p.Arg1041Cys) c.3175C>T (p.Arg1059Cys) c.3124C>T (p.Arg1042Cys) c.3172C>T (p.Arg1058Cys) c.3217C>T (p.Arg1073Cys) c.3082C>T (p.Arg1028Cys) c.3214C>T (p.Arg1072Cys) n.287C>T c.3079C>T (p.Arg1027Cys) n.3375C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570689G>A | CA1706455 | DYSF | c.548G>A (p.Arg183His) c.3122G>A (p.Arg1041His) c.3176G>A (p.Arg1059His) c.3125G>A (p.Arg1042His) c.3173G>A (p.Arg1058His) c.3218G>A (p.Arg1073His) c.3083G>A (p.Arg1028His) c.3215G>A (p.Arg1072His) n.288G>A c.3080G>A (p.Arg1027His) n.3376G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71570689G>C | CA347217069 | DYSF | c.548G>C (p.Arg183Pro) c.3122G>C (p.Arg1041Pro) c.3176G>C (p.Arg1059Pro) c.3125G>C (p.Arg1042Pro) c.3173G>C (p.Arg1058Pro) c.3218G>C (p.Arg1073Pro) c.3083G>C (p.Arg1028Pro) c.3215G>C (p.Arg1072Pro) n.288G>C c.3080G>C (p.Arg1027Pro) n.3376G>C | |
2 | g.71570689G= | CA1260104125 | DYSF | c.548G= (p.Arg183=) c.3122G= (p.Arg1041=) c.3176G= (p.Arg1059=) c.3125G= (p.Arg1042=) c.3173G= (p.Arg1058=) c.3218G= (p.Arg1073=) c.3083G= (p.Arg1028=) c.3215G= (p.Arg1072=) n.288G= c.3080G= (p.Arg1027=) n.3376G= | |
2 | g.71570689G>T | CA1706456 | DYSF | c.548G>T (p.Arg183Leu) c.3122G>T (p.Arg1041Leu) c.3176G>T (p.Arg1059Leu) c.3125G>T (p.Arg1042Leu) c.3173G>T (p.Arg1058Leu) c.3218G>T (p.Arg1073Leu) c.3083G>T (p.Arg1028Leu) c.3215G>T (p.Arg1072Leu) n.288G>T c.3080G>T (p.Arg1027Leu) n.3376G>T | dbSNP ExAC gnomAD v4 |
2 | g.71570689_71570690insA | CA49746785 | DYSF | c.548_549insA (p.Trp184LeufsTer?) c.3122_3123insA (p.Trp1042LeufsTer?) c.3176_3177insA (p.Trp1060LeufsTer?) c.3125_3126insA (p.Trp1043LeufsTer?) c.3173_3174insA (p.Trp1059LeufsTer?) c.3218_3219insA (p.Trp1074LeufsTer?) c.3083_3084insA (p.Trp1029LeufsTer?) c.3215_3216insA (p.Trp1073LeufsTer?) n.288_289insA c.3080_3081insA (p.Trp1028LeufsTer?) n.3376_3377insA | dbSNP |
2 | g.71570690C>A | CA426702088 | DYSF | c.549C>A (p.Arg183=) c.3123C>A (p.Arg1041=) c.3177C>A (p.Arg1059=) c.3126C>A (p.Arg1042=) c.3174C>A (p.Arg1058=) c.3219C>A (p.Arg1073=) c.3084C>A (p.Arg1028=) c.3216C>A (p.Arg1072=) n.289C>A c.3081C>A (p.Arg1027=) n.3377C>A | |
2 | g.71570690C>G | CA426702089 | DYSF | c.549C>G (p.Arg183=) c.3123C>G (p.Arg1041=) c.3177C>G (p.Arg1059=) c.3126C>G (p.Arg1042=) c.3174C>G (p.Arg1058=) c.3219C>G (p.Arg1073=) c.3084C>G (p.Arg1028=) c.3216C>G (p.Arg1072=) n.289C>G c.3081C>G (p.Arg1027=) n.3377C>G | |
2 | g.71570690C>T | CA426702090 | DYSF | c.549C>T (p.Arg183=) c.3123C>T (p.Arg1041=) c.3177C>T (p.Arg1059=) c.3126C>T (p.Arg1042=) c.3174C>T (p.Arg1058=) c.3219C>T (p.Arg1073=) c.3084C>T (p.Arg1028=) c.3216C>T (p.Arg1072=) n.289C>T c.3081C>T (p.Arg1027=) n.3377C>T | gnomAD v4 |
2 | g.71570691T>A | CA347217070 | DYSF | c.550T>A (p.Trp184Arg) c.3124T>A (p.Trp1042Arg) c.3178T>A (p.Trp1060Arg) c.3127T>A (p.Trp1043Arg) c.3175T>A (p.Trp1059Arg) c.3220T>A (p.Trp1074Arg) c.3085T>A (p.Trp1029Arg) c.3217T>A (p.Trp1073Arg) n.290T>A c.3082T>A (p.Trp1028Arg) n.3378T>A | |
2 | g.71570691T>C | CA347217071 | DYSF | c.550T>C (p.Trp184Arg) c.3124T>C (p.Trp1042Arg) c.3178T>C (p.Trp1060Arg) c.3127T>C (p.Trp1043Arg) c.3175T>C (p.Trp1059Arg) c.3220T>C (p.Trp1074Arg) c.3085T>C (p.Trp1029Arg) c.3217T>C (p.Trp1073Arg) n.290T>C c.3082T>C (p.Trp1028Arg) n.3378T>C | dbSNP gnomAD v4 |
2 | g.71570691T>G | CA347217072 | DYSF | c.550T>G (p.Trp184Gly) c.3124T>G (p.Trp1042Gly) c.3178T>G (p.Trp1060Gly) c.3127T>G (p.Trp1043Gly) c.3175T>G (p.Trp1059Gly) c.3220T>G (p.Trp1074Gly) c.3085T>G (p.Trp1029Gly) c.3217T>G (p.Trp1073Gly) n.290T>G c.3082T>G (p.Trp1028Gly) n.3378T>G | |
2 | g.71570691T= | CA1260104127 | DYSF | c.550T= (p.Trp184=) c.3124T= (p.Trp1042=) c.3178T= (p.Trp1060=) c.3127T= (p.Trp1043=) c.3175T= (p.Trp1059=) c.3220T= (p.Trp1074=) c.3085T= (p.Trp1029=) c.3217T= (p.Trp1073=) n.290T= c.3082T= (p.Trp1028=) n.3378T= | |
2 | g.71570691_71570692delinsTG | CA1260104126 | DYSF | c.550_551delinsTG (p.Trp184=) c.3124_3125delinsTG (p.Trp1042=) c.3178_3179delinsTG (p.Trp1060=) c.3127_3128delinsTG (p.Trp1043=) c.3175_3176delinsTG (p.Trp1059=) c.3220_3221delinsTG (p.Trp1074=) c.3085_3086delinsTG (p.Trp1029=) c.3217_3218delinsTG (p.Trp1073=) n.290_291delinsTG c.3082_3083delinsTG (p.Trp1028=) n.3378_3379delinsTG | |
2 | g.71570692G>A | CA347217073 | DYSF | c.551G>A (p.Trp184Ter) c.3125G>A (p.Trp1042Ter) c.3179G>A (p.Trp1060Ter) c.3128G>A (p.Trp1043Ter) c.3176G>A (p.Trp1059Ter) c.3221G>A (p.Trp1074Ter) c.3086G>A (p.Trp1029Ter) c.3218G>A (p.Trp1073Ter) n.291G>A c.3083G>A (p.Trp1028Ter) n.3379G>A | ClinVar dbSNP |
2 | g.71570692G>C | CA347217074 | DYSF | c.551G>C (p.Trp184Ser) c.3125G>C (p.Trp1042Ser) c.3179G>C (p.Trp1060Ser) c.3128G>C (p.Trp1043Ser) c.3176G>C (p.Trp1059Ser) c.3221G>C (p.Trp1074Ser) c.3086G>C (p.Trp1029Ser) c.3218G>C (p.Trp1073Ser) n.291G>C c.3083G>C (p.Trp1028Ser) n.3379G>C | |
2 | g.71570692G= | CA1260104128 | DYSF | c.551G= (p.Trp184=) c.3125G= (p.Trp1042=) c.3179G= (p.Trp1060=) c.3128G= (p.Trp1043=) c.3176G= (p.Trp1059=) c.3221G= (p.Trp1074=) c.3086G= (p.Trp1029=) c.3218G= (p.Trp1073=) n.291G= c.3083G= (p.Trp1028=) n.3379G= | |
2 | g.71570692G>T | CA347217075 | DYSF | c.551G>T (p.Trp184Leu) c.3125G>T (p.Trp1042Leu) c.3179G>T (p.Trp1060Leu) c.3128G>T (p.Trp1043Leu) c.3176G>T (p.Trp1059Leu) c.3221G>T (p.Trp1074Leu) c.3086G>T (p.Trp1029Leu) c.3218G>T (p.Trp1073Leu) n.291G>T c.3083G>T (p.Trp1028Leu) n.3379G>T | COSMIC |
2 | g.71570694del | CA347217076 | DYSF | c.553del (p.Val185CysfsTer14) c.3127del (p.Val1043CysfsTer14) c.3181del (p.Val1061CysfsTer14) c.3130del (p.Val1044CysfsTer14) c.3178del (p.Val1060CysfsTer14) c.3223del (p.Val1075CysfsTer14) c.3088del (p.Val1030CysfsTer14) c.3220del (p.Val1074CysfsTer14) n.293del c.3085del (p.Val1029CysfsTer14) n.3381del | dbSNP |
2 | g.71570693G>A | CA347217077 | DYSF | c.552G>A (p.Trp184Ter) c.3126G>A (p.Trp1042Ter) c.3180G>A (p.Trp1060Ter) c.3129G>A (p.Trp1043Ter) c.3177G>A (p.Trp1059Ter) c.3222G>A (p.Trp1074Ter) c.3087G>A (p.Trp1029Ter) c.3219G>A (p.Trp1073Ter) n.292G>A c.3084G>A (p.Trp1028Ter) n.3380G>A | ClinVar |
2 | g.71570693G>C | CA347217079 | DYSF | c.552G>C (p.Trp184Cys) c.3126G>C (p.Trp1042Cys) c.3180G>C (p.Trp1060Cys) c.3129G>C (p.Trp1043Cys) c.3177G>C (p.Trp1059Cys) c.3222G>C (p.Trp1074Cys) c.3087G>C (p.Trp1029Cys) c.3219G>C (p.Trp1073Cys) n.292G>C c.3084G>C (p.Trp1028Cys) n.3380G>C | dbSNP gnomAD v4 |
2 | g.71570693G= | CA1260104129 | DYSF | c.552G= (p.Trp184=) c.3126G= (p.Trp1042=) c.3180G= (p.Trp1060=) c.3129G= (p.Trp1043=) c.3177G= (p.Trp1059=) c.3222G= (p.Trp1074=) c.3087G= (p.Trp1029=) c.3219G= (p.Trp1073=) n.292G= c.3084G= (p.Trp1028=) n.3380G= | |
2 | g.71570693G>T | CA347217078 | DYSF | c.552G>T (p.Trp184Cys) c.3126G>T (p.Trp1042Cys) c.3180G>T (p.Trp1060Cys) c.3129G>T (p.Trp1043Cys) c.3177G>T (p.Trp1059Cys) c.3222G>T (p.Trp1074Cys) c.3087G>T (p.Trp1029Cys) c.3219G>T (p.Trp1073Cys) n.292G>T c.3084G>T (p.Trp1028Cys) n.3380G>T | |
2 | g.71570694G>A | CA347217080 | DYSF | c.553G>A (p.Val185Met) c.3127G>A (p.Val1043Met) c.3181G>A (p.Val1061Met) c.3130G>A (p.Val1044Met) c.3178G>A (p.Val1060Met) c.3223G>A (p.Val1075Met) c.3088G>A (p.Val1030Met) c.3220G>A (p.Val1074Met) n.293G>A c.3085G>A (p.Val1029Met) n.3381G>A | COSMIC COSMIC |
2 | g.71570694G>C | CA347217081 | DYSF | c.553G>C (p.Val185Leu) c.3127G>C (p.Val1043Leu) c.3181G>C (p.Val1061Leu) c.3130G>C (p.Val1044Leu) c.3178G>C (p.Val1060Leu) c.3223G>C (p.Val1075Leu) c.3088G>C (p.Val1030Leu) c.3220G>C (p.Val1074Leu) n.293G>C c.3085G>C (p.Val1029Leu) n.3381G>C | |
2 | g.71570694G= | CA1260104130 | DYSF | c.553G= (p.Val185=) c.3127G= (p.Val1043=) c.3181G= (p.Val1061=) c.3130G= (p.Val1044=) c.3178G= (p.Val1060=) c.3223G= (p.Val1075=) c.3088G= (p.Val1030=) c.3220G= (p.Val1074=) n.293G= c.3085G= (p.Val1029=) n.3381G= | |
2 | g.71570694G>T | CA49746795 | DYSF | c.553G>T (p.Val185Leu) c.3127G>T (p.Val1043Leu) c.3181G>T (p.Val1061Leu) c.3130G>T (p.Val1044Leu) c.3178G>T (p.Val1060Leu) c.3223G>T (p.Val1075Leu) c.3088G>T (p.Val1030Leu) c.3220G>T (p.Val1074Leu) n.293G>T c.3085G>T (p.Val1029Leu) n.3381G>T | dbSNP |
2 | g.71570695T>A | CA347217084 | DYSF | c.554T>A (p.Val185Glu) c.3128T>A (p.Val1043Glu) c.3182T>A (p.Val1061Glu) c.3131T>A (p.Val1044Glu) c.3179T>A (p.Val1060Glu) c.3224T>A (p.Val1075Glu) c.3089T>A (p.Val1030Glu) c.3221T>A (p.Val1074Glu) n.294T>A c.3086T>A (p.Val1029Glu) n.3382T>A | |
2 | g.71570695T>C | CA347217082 | DYSF | c.554T>C (p.Val185Ala) c.3128T>C (p.Val1043Ala) c.3182T>C (p.Val1061Ala) c.3131T>C (p.Val1044Ala) c.3179T>C (p.Val1060Ala) c.3224T>C (p.Val1075Ala) c.3089T>C (p.Val1030Ala) c.3221T>C (p.Val1074Ala) n.294T>C c.3086T>C (p.Val1029Ala) n.3382T>C | |
2 | g.71570695T>G | CA347217083 | DYSF | c.554T>G (p.Val185Gly) c.3128T>G (p.Val1043Gly) c.3182T>G (p.Val1061Gly) c.3131T>G (p.Val1044Gly) c.3179T>G (p.Val1060Gly) c.3224T>G (p.Val1075Gly) c.3089T>G (p.Val1030Gly) c.3221T>G (p.Val1074Gly) n.294T>G c.3086T>G (p.Val1029Gly) n.3382T>G | dbSNP |
2 | g.71570695T= | CA1260104131 | DYSF | c.554T= (p.Val185=) c.3128T= (p.Val1043=) c.3182T= (p.Val1061=) c.3131T= (p.Val1044=) c.3179T= (p.Val1060=) c.3224T= (p.Val1075=) c.3089T= (p.Val1030=) c.3221T= (p.Val1074=) n.294T= c.3086T= (p.Val1029=) n.3382T= | |
2 | g.71570696G>A | CA426702091 | DYSF | c.555G>A (p.Val185=) c.3129G>A (p.Val1043=) c.3183G>A (p.Val1061=) c.3132G>A (p.Val1044=) c.3180G>A (p.Val1060=) c.3225G>A (p.Val1075=) c.3090G>A (p.Val1030=) c.3222G>A (p.Val1074=) n.295G>A c.3087G>A (p.Val1029=) n.3383G>A | |
2 | g.71570696G>C | CA426702092 | DYSF | c.555G>C (p.Val185=) c.3129G>C (p.Val1043=) c.3183G>C (p.Val1061=) c.3132G>C (p.Val1044=) c.3180G>C (p.Val1060=) c.3225G>C (p.Val1075=) c.3090G>C (p.Val1030=) c.3222G>C (p.Val1074=) n.295G>C c.3087G>C (p.Val1029=) n.3383G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71570696G= | CA1260104132 | DYSF | c.555G= (p.Val185=) c.3129G= (p.Val1043=) c.3183G= (p.Val1061=) c.3132G= (p.Val1044=) c.3180G= (p.Val1060=) c.3225G= (p.Val1075=) c.3090G= (p.Val1030=) c.3222G= (p.Val1074=) n.295G= c.3087G= (p.Val1029=) n.3383G= | |
2 | g.71570696G>T | CA426702093 | DYSF | c.555G>T (p.Val185=) c.3129G>T (p.Val1043=) c.3183G>T (p.Val1061=) c.3132G>T (p.Val1044=) c.3180G>T (p.Val1060=) c.3225G>T (p.Val1075=) c.3090G>T (p.Val1030=) c.3222G>T (p.Val1074=) n.295G>T c.3087G>T (p.Val1029=) n.3383G>T | |
2 | g.71570697C>A | CA347217085 | DYSF | c.556C>A (p.Arg186Ser) c.3130C>A (p.Arg1044Ser) c.3184C>A (p.Arg1062Ser) c.3133C>A (p.Arg1045Ser) c.3181C>A (p.Arg1061Ser) c.3226C>A (p.Arg1076Ser) c.3091C>A (p.Arg1031Ser) c.3223C>A (p.Arg1075Ser) n.296C>A c.3088C>A (p.Arg1030Ser) n.3384C>A | |
2 | g.71570697C= | CA1260104133 | DYSF | c.556C= (p.Arg186=) c.3130C= (p.Arg1044=) c.3184C= (p.Arg1062=) c.3133C= (p.Arg1045=) c.3181C= (p.Arg1061=) c.3226C= (p.Arg1076=) c.3091C= (p.Arg1031=) c.3223C= (p.Arg1075=) n.296C= c.3088C= (p.Arg1030=) n.3384C= | |
2 | g.71570697C>G | CA347217086 | DYSF | c.556C>G (p.Arg186Gly) c.3130C>G (p.Arg1044Gly) c.3184C>G (p.Arg1062Gly) c.3133C>G (p.Arg1045Gly) c.3181C>G (p.Arg1061Gly) c.3226C>G (p.Arg1076Gly) c.3091C>G (p.Arg1031Gly) c.3223C>G (p.Arg1075Gly) n.296C>G c.3088C>G (p.Arg1030Gly) n.3384C>G | |
2 | g.71570697C>T | CA1706457 | DYSF | c.556C>T (p.Arg186Cys) c.3130C>T (p.Arg1044Cys) c.3184C>T (p.Arg1062Cys) c.3133C>T (p.Arg1045Cys) c.3181C>T (p.Arg1061Cys) c.3226C>T (p.Arg1076Cys) c.3091C>T (p.Arg1031Cys) c.3223C>T (p.Arg1075Cys) n.296C>T c.3088C>T (p.Arg1030Cys) n.3384C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570698G>A | CA1706458 | DYSF | c.557G>A (p.Arg186His) c.3131G>A (p.Arg1044His) c.3185G>A (p.Arg1062His) c.3134G>A (p.Arg1045His) c.3182G>A (p.Arg1061His) c.3227G>A (p.Arg1076His) c.3092G>A (p.Arg1031His) c.3224G>A (p.Arg1075His) n.297G>A c.3089G>A (p.Arg1030His) n.3385G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570698G>C | CA347217087 | DYSF | c.557G>C (p.Arg186Pro) c.3131G>C (p.Arg1044Pro) c.3185G>C (p.Arg1062Pro) c.3134G>C (p.Arg1045Pro) c.3182G>C (p.Arg1061Pro) c.3227G>C (p.Arg1076Pro) c.3092G>C (p.Arg1031Pro) c.3224G>C (p.Arg1075Pro) n.297G>C c.3089G>C (p.Arg1030Pro) n.3385G>C | COSMIC COSMIC |
2 | g.71570698G= | CA1260104134 | DYSF | c.557G= (p.Arg186=) c.3131G= (p.Arg1044=) c.3185G= (p.Arg1062=) c.3134G= (p.Arg1045=) c.3182G= (p.Arg1061=) c.3227G= (p.Arg1076=) c.3092G= (p.Arg1031=) c.3224G= (p.Arg1075=) n.297G= c.3089G= (p.Arg1030=) n.3385G= | |
2 | g.71570698G>T | CA49746817 | DYSF | c.557G>T (p.Arg186Leu) c.3131G>T (p.Arg1044Leu) c.3185G>T (p.Arg1062Leu) c.3134G>T (p.Arg1045Leu) c.3182G>T (p.Arg1061Leu) c.3227G>T (p.Arg1076Leu) c.3092G>T (p.Arg1031Leu) c.3224G>T (p.Arg1075Leu) n.297G>T c.3089G>T (p.Arg1030Leu) n.3385G>T | dbSNP |
2 | g.71570699C>A | CA426702094 | DYSF | c.558C>A (p.Arg186=) c.3132C>A (p.Arg1044=) c.3186C>A (p.Arg1062=) c.3135C>A (p.Arg1045=) c.3183C>A (p.Arg1061=) c.3228C>A (p.Arg1076=) c.3093C>A (p.Arg1031=) c.3225C>A (p.Arg1075=) n.298C>A c.3090C>A (p.Arg1030=) n.3386C>A | dbSNP gnomAD v4 |
2 | g.71570699C= | CA1260104135 | DYSF | c.558C= (p.Arg186=) c.3132C= (p.Arg1044=) c.3186C= (p.Arg1062=) c.3135C= (p.Arg1045=) c.3183C= (p.Arg1061=) c.3228C= (p.Arg1076=) c.3093C= (p.Arg1031=) c.3225C= (p.Arg1075=) n.298C= c.3090C= (p.Arg1030=) n.3386C= | |
2 | g.71570699C>G | CA426702095 | DYSF | c.558C>G (p.Arg186=) c.3132C>G (p.Arg1044=) c.3186C>G (p.Arg1062=) c.3135C>G (p.Arg1045=) c.3183C>G (p.Arg1061=) c.3228C>G (p.Arg1076=) c.3093C>G (p.Arg1031=) c.3225C>G (p.Arg1075=) n.298C>G c.3090C>G (p.Arg1030=) n.3386C>G | |
2 | g.71570699C>T | CA426702096 | DYSF | c.558C>T (p.Arg186=) c.3132C>T (p.Arg1044=) c.3186C>T (p.Arg1062=) c.3135C>T (p.Arg1045=) c.3183C>T (p.Arg1061=) c.3228C>T (p.Arg1076=) c.3093C>T (p.Arg1031=) c.3225C>T (p.Arg1075=) n.298C>T c.3090C>T (p.Arg1030=) n.3386C>T | ClinVar dbSNP |
2 | g.71570700del | CA2659549638 | DYSF | c.559del (p.Leu187CysfsTer12) c.3133del (p.Leu1045CysfsTer12) c.3187del (p.Leu1063CysfsTer12) c.3136del (p.Leu1046CysfsTer12) c.3184del (p.Leu1062CysfsTer12) c.3229del (p.Leu1077CysfsTer12) c.3094del (p.Leu1032CysfsTer12) c.3226del (p.Leu1076CysfsTer12) n.299del c.3091del (p.Leu1031CysfsTer12) n.3387del | gnomAD v4 |
2 | g.71570700C>A | CA347217089 | DYSF | c.559C>A (p.Leu187Met) c.3133C>A (p.Leu1045Met) c.3187C>A (p.Leu1063Met) c.3136C>A (p.Leu1046Met) c.3184C>A (p.Leu1062Met) c.3229C>A (p.Leu1077Met) c.3094C>A (p.Leu1032Met) c.3226C>A (p.Leu1076Met) n.299C>A c.3091C>A (p.Leu1031Met) n.3387C>A | |
2 | g.71570700C>G | CA347217088 | DYSF | c.559C>G (p.Leu187Val) c.3133C>G (p.Leu1045Val) c.3187C>G (p.Leu1063Val) c.3136C>G (p.Leu1046Val) c.3184C>G (p.Leu1062Val) c.3229C>G (p.Leu1077Val) c.3094C>G (p.Leu1032Val) c.3226C>G (p.Leu1076Val) n.299C>G c.3091C>G (p.Leu1031Val) n.3387C>G | |
2 | g.71570700C>T | CA426702097 | DYSF | c.559C>T (p.Leu187=) c.3133C>T (p.Leu1045=) c.3187C>T (p.Leu1063=) c.3136C>T (p.Leu1046=) c.3184C>T (p.Leu1062=) c.3229C>T (p.Leu1077=) c.3094C>T (p.Leu1032=) c.3226C>T (p.Leu1076=) n.299C>T c.3091C>T (p.Leu1031=) n.3387C>T | ClinVar dbSNP gnomAD v4 |
2 | g.71570701T>A | CA347217090 | DYSF | c.560T>A (p.Leu187Gln) c.3134T>A (p.Leu1045Gln) c.3188T>A (p.Leu1063Gln) c.3137T>A (p.Leu1046Gln) c.3185T>A (p.Leu1062Gln) c.3230T>A (p.Leu1077Gln) c.3095T>A (p.Leu1032Gln) c.3227T>A (p.Leu1076Gln) n.300T>A c.3092T>A (p.Leu1031Gln) n.3388T>A | |
2 | g.71570701T>C | CA347217091 | DYSF | c.560T>C (p.Leu187Pro) c.3134T>C (p.Leu1045Pro) c.3188T>C (p.Leu1063Pro) c.3137T>C (p.Leu1046Pro) c.3185T>C (p.Leu1062Pro) c.3230T>C (p.Leu1077Pro) c.3095T>C (p.Leu1032Pro) c.3227T>C (p.Leu1076Pro) n.300T>C c.3092T>C (p.Leu1031Pro) n.3388T>C | |
2 | g.71570701T>G | CA49746818 | DYSF | c.560T>G (p.Leu187Arg) c.3134T>G (p.Leu1045Arg) c.3188T>G (p.Leu1063Arg) c.3137T>G (p.Leu1046Arg) c.3185T>G (p.Leu1062Arg) c.3230T>G (p.Leu1077Arg) c.3095T>G (p.Leu1032Arg) c.3227T>G (p.Leu1076Arg) n.300T>G c.3092T>G (p.Leu1031Arg) n.3388T>G | dbSNP |
2 | g.71570701T= | CA1260104136 | DYSF | c.560T= (p.Leu187=) c.3134T= (p.Leu1045=) c.3188T= (p.Leu1063=) c.3137T= (p.Leu1046=) c.3185T= (p.Leu1062=) c.3230T= (p.Leu1077=) c.3095T= (p.Leu1032=) c.3227T= (p.Leu1076=) n.300T= c.3092T= (p.Leu1031=) n.3388T= | |
2 | g.71570702G>A | CA426702099 | DYSF | c.561G>A (p.Leu187=) c.3135G>A (p.Leu1045=) c.3189G>A (p.Leu1063=) c.3138G>A (p.Leu1046=) c.3186G>A (p.Leu1062=) c.3231G>A (p.Leu1077=) c.3096G>A (p.Leu1032=) c.3228G>A (p.Leu1076=) n.301G>A c.3093G>A (p.Leu1031=) n.3389G>A | ClinVar dbSNP |
2 | g.71570702G>C | CA426702100 | DYSF | c.561G>C (p.Leu187=) c.3135G>C (p.Leu1045=) c.3189G>C (p.Leu1063=) c.3138G>C (p.Leu1046=) c.3186G>C (p.Leu1062=) c.3231G>C (p.Leu1077=) c.3096G>C (p.Leu1032=) c.3228G>C (p.Leu1076=) n.301G>C c.3093G>C (p.Leu1031=) n.3389G>C | |
2 | g.71570702G>T | CA426702098 | DYSF | c.561G>T (p.Leu187=) c.3135G>T (p.Leu1045=) c.3189G>T (p.Leu1063=) c.3138G>T (p.Leu1046=) c.3186G>T (p.Leu1062=) c.3231G>T (p.Leu1077=) c.3096G>T (p.Leu1032=) c.3228G>T (p.Leu1076=) n.301G>T c.3093G>T (p.Leu1031=) n.3389G>T | ClinVar dbSNP gnomAD v4 |
2 | g.71570703C>A | CA347217092 | DYSF | c.562C>A (p.Arg188Ser) c.3136C>A (p.Arg1046Ser) c.3190C>A (p.Arg1064Ser) c.3139C>A (p.Arg1047Ser) c.3187C>A (p.Arg1063Ser) c.3232C>A (p.Arg1078Ser) c.3097C>A (p.Arg1033Ser) c.3229C>A (p.Arg1077Ser) n.302C>A c.3094C>A (p.Arg1032Ser) n.3390C>A | ClinVar |
2 | g.71570703C= | CA1260104137 | DYSF | c.562C= (p.Arg188=) c.3136C= (p.Arg1046=) c.3190C= (p.Arg1064=) c.3139C= (p.Arg1047=) c.3187C= (p.Arg1063=) c.3232C= (p.Arg1078=) c.3097C= (p.Arg1033=) c.3229C= (p.Arg1077=) n.302C= c.3094C= (p.Arg1032=) n.3390C= | |
2 | g.71570703C>G | CA347217093 | DYSF | c.562C>G (p.Arg188Gly) c.3136C>G (p.Arg1046Gly) c.3190C>G (p.Arg1064Gly) c.3139C>G (p.Arg1047Gly) c.3187C>G (p.Arg1063Gly) c.3232C>G (p.Arg1078Gly) c.3097C>G (p.Arg1033Gly) c.3229C>G (p.Arg1077Gly) n.302C>G c.3094C>G (p.Arg1032Gly) n.3390C>G | |
2 | g.71570703C>T | CA1706459 | DYSF | c.562C>T (p.Arg188Cys) c.3136C>T (p.Arg1046Cys) c.3190C>T (p.Arg1064Cys) c.3139C>T (p.Arg1047Cys) c.3187C>T (p.Arg1063Cys) c.3232C>T (p.Arg1078Cys) c.3097C>T (p.Arg1033Cys) c.3229C>T (p.Arg1077Cys) n.302C>T c.3094C>T (p.Arg1032Cys) n.3390C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570704G>A | CA222152 | DYSF | c.563G>A (p.Arg188His) c.3137G>A (p.Arg1046His) c.3191G>A (p.Arg1064His) c.3140G>A (p.Arg1047His) c.3188G>A (p.Arg1063His) c.3233G>A (p.Arg1078His) c.3098G>A (p.Arg1033His) c.3230G>A (p.Arg1077His) n.303G>A c.3095G>A (p.Arg1032His) n.3391G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570704G>C | CA347217095 | DYSF | c.563G>C (p.Arg188Pro) c.3137G>C (p.Arg1046Pro) c.3191G>C (p.Arg1064Pro) c.3140G>C (p.Arg1047Pro) c.3188G>C (p.Arg1063Pro) c.3233G>C (p.Arg1078Pro) c.3098G>C (p.Arg1033Pro) c.3230G>C (p.Arg1077Pro) n.303G>C c.3095G>C (p.Arg1032Pro) n.3391G>C | |
2 | g.71570704G= | CA1260104138 | DYSF | c.563G= (p.Arg188=) c.3137G= (p.Arg1046=) c.3191G= (p.Arg1064=) c.3140G= (p.Arg1047=) c.3188G= (p.Arg1063=) c.3233G= (p.Arg1078=) c.3098G= (p.Arg1033=) c.3230G= (p.Arg1077=) n.303G= c.3095G= (p.Arg1032=) n.3391G= | |
2 | g.71570704G>T | CA347217094 | DYSF | c.563G>T (p.Arg188Leu) c.3137G>T (p.Arg1046Leu) c.3191G>T (p.Arg1064Leu) c.3140G>T (p.Arg1047Leu) c.3188G>T (p.Arg1063Leu) c.3233G>T (p.Arg1078Leu) c.3098G>T (p.Arg1033Leu) c.3230G>T (p.Arg1077Leu) n.303G>T c.3095G>T (p.Arg1032Leu) n.3391G>T | |
2 | g.71570705C>A | CA426702103 | DYSF | c.564C>A (p.Arg188=) c.3138C>A (p.Arg1046=) c.3192C>A (p.Arg1064=) c.3141C>A (p.Arg1047=) c.3189C>A (p.Arg1063=) c.3234C>A (p.Arg1078=) c.3099C>A (p.Arg1033=) c.3231C>A (p.Arg1077=) n.304C>A c.3096C>A (p.Arg1032=) n.3392C>A | |
2 | g.71570705C>G | CA426702101 | DYSF | c.564C>G (p.Arg188=) c.3138C>G (p.Arg1046=) c.3192C>G (p.Arg1064=) c.3141C>G (p.Arg1047=) c.3189C>G (p.Arg1063=) c.3234C>G (p.Arg1078=) c.3099C>G (p.Arg1033=) c.3231C>G (p.Arg1077=) n.304C>G c.3096C>G (p.Arg1032=) n.3392C>G | |
2 | g.71570705C>T | CA426702102 | DYSF | c.564C>T (p.Arg188=) c.3138C>T (p.Arg1046=) c.3192C>T (p.Arg1064=) c.3141C>T (p.Arg1047=) c.3189C>T (p.Arg1063=) c.3234C>T (p.Arg1078=) c.3099C>T (p.Arg1033=) c.3231C>T (p.Arg1077=) n.304C>T c.3096C>T (p.Arg1032=) n.3392C>T | |
2 | g.71570706A>C | CA426702104 | DYSF | c.565A>C (p.Arg189=) c.3139A>C (p.Arg1047=) c.3193A>C (p.Arg1065=) c.3142A>C (p.Arg1048=) c.3190A>C (p.Arg1064=) c.3235A>C (p.Arg1079=) c.3100A>C (p.Arg1034=) c.3232A>C (p.Arg1078=) n.305A>C c.3097A>C (p.Arg1033=) n.3393A>C | |
2 | g.71570706A>G | CA347217096 | DYSF | c.565A>G (p.Arg189Gly) c.3139A>G (p.Arg1047Gly) c.3193A>G (p.Arg1065Gly) c.3142A>G (p.Arg1048Gly) c.3190A>G (p.Arg1064Gly) c.3235A>G (p.Arg1079Gly) c.3100A>G (p.Arg1034Gly) c.3232A>G (p.Arg1078Gly) n.305A>G c.3097A>G (p.Arg1033Gly) n.3393A>G | |
2 | g.71570706A>T | CA347217097 | DYSF | c.565A>T (p.Arg189Trp) c.3139A>T (p.Arg1047Trp) c.3193A>T (p.Arg1065Trp) c.3142A>T (p.Arg1048Trp) c.3190A>T (p.Arg1064Trp) c.3235A>T (p.Arg1079Trp) c.3100A>T (p.Arg1034Trp) c.3232A>T (p.Arg1078Trp) n.305A>T c.3097A>T (p.Arg1033Trp) n.3393A>T | |
2 | g.71570707G>A | CA347217098 | DYSF | c.566G>A (p.Arg189Lys) c.3140G>A (p.Arg1047Lys) c.3194G>A (p.Arg1065Lys) c.3143G>A (p.Arg1048Lys) c.3191G>A (p.Arg1064Lys) c.3236G>A (p.Arg1079Lys) c.3101G>A (p.Arg1034Lys) c.3233G>A (p.Arg1078Lys) n.306G>A c.3098G>A (p.Arg1033Lys) n.3394G>A | |
2 | g.71570707G>C | CA347217099 | DYSF | c.566G>C (p.Arg189Thr) c.3140G>C (p.Arg1047Thr) c.3194G>C (p.Arg1065Thr) c.3143G>C (p.Arg1048Thr) c.3191G>C (p.Arg1064Thr) c.3236G>C (p.Arg1079Thr) c.3101G>C (p.Arg1034Thr) c.3233G>C (p.Arg1078Thr) n.306G>C c.3098G>C (p.Arg1033Thr) n.3394G>C | |
2 | g.71570707G>T | CA347217100 | DYSF | c.566G>T (p.Arg189Met) c.3140G>T (p.Arg1047Met) c.3194G>T (p.Arg1065Met) c.3143G>T (p.Arg1048Met) c.3191G>T (p.Arg1064Met) c.3236G>T (p.Arg1079Met) c.3101G>T (p.Arg1034Met) c.3233G>T (p.Arg1078Met) n.306G>T c.3098G>T (p.Arg1033Met) n.3394G>T | |
2 | g.71570708G>A | CA426702105 | DYSF | c.567G>A (p.Arg189=) c.3141G>A (p.Arg1047=) c.3195G>A (p.Arg1065=) c.3144G>A (p.Arg1048=) c.3192G>A (p.Arg1064=) c.3237G>A (p.Arg1079=) c.3102G>A (p.Arg1034=) c.3234G>A (p.Arg1078=) n.307G>A c.3099G>A (p.Arg1033=) n.3395G>A | |
2 | g.71570708G>C | CA347217101 | DYSF | c.567G>C (p.Arg189Ser) c.3141G>C (p.Arg1047Ser) c.3195G>C (p.Arg1065Ser) c.3144G>C (p.Arg1048Ser) c.3192G>C (p.Arg1064Ser) c.3237G>C (p.Arg1079Ser) c.3102G>C (p.Arg1034Ser) c.3234G>C (p.Arg1078Ser) n.307G>C c.3099G>C (p.Arg1033Ser) n.3395G>C | |
2 | g.71570708G>T | CA347217102 | DYSF | c.567G>T (p.Arg189Ser) c.3141G>T (p.Arg1047Ser) c.3195G>T (p.Arg1065Ser) c.3144G>T (p.Arg1048Ser) c.3192G>T (p.Arg1064Ser) c.3237G>T (p.Arg1079Ser) c.3102G>T (p.Arg1034Ser) c.3234G>T (p.Arg1078Ser) n.307G>T c.3099G>T (p.Arg1033Ser) n.3395G>T | |
2 | g.71570709A= | CA1260104139 | DYSF | c.568A= (p.Arg190=) c.3142A= (p.Arg1048=) c.3196A= (p.Arg1066=) c.3145A= (p.Arg1049=) c.3193A= (p.Arg1065=) c.3238A= (p.Arg1080=) c.3103A= (p.Arg1035=) c.3235A= (p.Arg1079=) n.308A= c.3100A= (p.Arg1034=) n.3396A= | |
2 | g.71570709A>C | CA426702106 | DYSF | c.568A>C (p.Arg190=) c.3142A>C (p.Arg1048=) c.3196A>C (p.Arg1066=) c.3145A>C (p.Arg1049=) c.3193A>C (p.Arg1065=) c.3238A>C (p.Arg1080=) c.3103A>C (p.Arg1035=) c.3235A>C (p.Arg1079=) n.308A>C c.3100A>C (p.Arg1034=) n.3396A>C | |
2 | g.71570709A>G | CA347217103 | DYSF | c.568A>G (p.Arg190Gly) c.3142A>G (p.Arg1048Gly) c.3196A>G (p.Arg1066Gly) c.3145A>G (p.Arg1049Gly) c.3193A>G (p.Arg1065Gly) c.3238A>G (p.Arg1080Gly) c.3103A>G (p.Arg1035Gly) c.3235A>G (p.Arg1079Gly) n.308A>G c.3100A>G (p.Arg1034Gly) n.3396A>G | dbSNP gnomAD v2 |
2 | g.71570709A>T | CA347217104 | DYSF | c.568A>T (p.Arg190Trp) c.3142A>T (p.Arg1048Trp) c.3196A>T (p.Arg1066Trp) c.3145A>T (p.Arg1049Trp) c.3193A>T (p.Arg1065Trp) c.3238A>T (p.Arg1080Trp) c.3103A>T (p.Arg1035Trp) c.3235A>T (p.Arg1079Trp) n.308A>T c.3100A>T (p.Arg1034Trp) n.3396A>T | |
2 | g.71570710G>A | CA347217105 | DYSF | c.569G>A (p.Arg190Lys) c.3143G>A (p.Arg1048Lys) c.3197G>A (p.Arg1066Lys) c.3146G>A (p.Arg1049Lys) c.3194G>A (p.Arg1065Lys) c.3239G>A (p.Arg1080Lys) c.3104G>A (p.Arg1035Lys) c.3236G>A (p.Arg1079Lys) n.309G>A c.3101G>A (p.Arg1034Lys) n.3397G>A | |
2 | g.71570710G>C | CA347217106 | DYSF | c.569G>C (p.Arg190Thr) c.3143G>C (p.Arg1048Thr) c.3197G>C (p.Arg1066Thr) c.3146G>C (p.Arg1049Thr) c.3194G>C (p.Arg1065Thr) c.3239G>C (p.Arg1080Thr) c.3104G>C (p.Arg1035Thr) c.3236G>C (p.Arg1079Thr) n.309G>C c.3101G>C (p.Arg1034Thr) n.3397G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71570710G= | CA1260104140 | DYSF | c.569G= (p.Arg190=) c.3143G= (p.Arg1048=) c.3197G= (p.Arg1066=) c.3146G= (p.Arg1049=) c.3194G= (p.Arg1065=) c.3239G= (p.Arg1080=) c.3104G= (p.Arg1035=) c.3236G= (p.Arg1079=) n.309G= c.3101G= (p.Arg1034=) n.3397G= | |
2 | g.71570710G>T | CA347217107 | DYSF | c.569G>T (p.Arg190Met) c.3143G>T (p.Arg1048Met) c.3197G>T (p.Arg1066Met) c.3146G>T (p.Arg1049Met) c.3194G>T (p.Arg1065Met) c.3239G>T (p.Arg1080Met) c.3104G>T (p.Arg1035Met) c.3236G>T (p.Arg1079Met) n.309G>T c.3101G>T (p.Arg1034Met) n.3397G>T | |
2 | g.71570712del | CA2586969485 | DYSF | c.571del (p.Asp191IlefsTer8) c.3145del (p.Asp1049IlefsTer8) c.3199del (p.Asp1067IlefsTer8) c.3148del (p.Asp1050IlefsTer8) c.3196del (p.Asp1066IlefsTer8) c.3241del (p.Asp1081IlefsTer8) c.3106del (p.Asp1036IlefsTer8) c.3238del (p.Asp1080IlefsTer8) n.311del c.3103del (p.Asp1035IlefsTer8) n.3399del | |
2 | g.71570711G>A | CA426702107 | DYSF | c.570G>A (p.Arg190=) c.3144G>A (p.Arg1048=) c.3198G>A (p.Arg1066=) c.3147G>A (p.Arg1049=) c.3195G>A (p.Arg1065=) c.3240G>A (p.Arg1080=) c.3105G>A (p.Arg1035=) c.3237G>A (p.Arg1079=) n.310G>A c.3102G>A (p.Arg1034=) n.3398G>A | dbSNP |
2 | g.71570711G>C | CA347217108 | DYSF | c.570G>C (p.Arg190Ser) c.3144G>C (p.Arg1048Ser) c.3198G>C (p.Arg1066Ser) c.3147G>C (p.Arg1049Ser) c.3195G>C (p.Arg1065Ser) c.3240G>C (p.Arg1080Ser) c.3105G>C (p.Arg1035Ser) c.3237G>C (p.Arg1079Ser) n.310G>C c.3102G>C (p.Arg1034Ser) n.3398G>C | |
2 | g.71570711G= | CA1260104141 | DYSF | c.570G= (p.Arg190=) c.3144G= (p.Arg1048=) c.3198G= (p.Arg1066=) c.3147G= (p.Arg1049=) c.3195G= (p.Arg1065=) c.3240G= (p.Arg1080=) c.3105G= (p.Arg1035=) c.3237G= (p.Arg1079=) n.310G= c.3102G= (p.Arg1034=) n.3398G= | |
2 | g.71570711G>T | CA347217109 | DYSF | c.570G>T (p.Arg190Ser) c.3144G>T (p.Arg1048Ser) c.3198G>T (p.Arg1066Ser) c.3147G>T (p.Arg1049Ser) c.3195G>T (p.Arg1065Ser) c.3240G>T (p.Arg1080Ser) c.3105G>T (p.Arg1035Ser) c.3237G>T (p.Arg1079Ser) n.310G>T c.3102G>T (p.Arg1034Ser) n.3398G>T | |
2 | g.71570711_71570712delinsAA | CA645526704 | DYSF | c.570_571delinsAA (p.Asp191Asn) c.3144_3145delinsAA (p.Asp1049Asn) c.3198_3199delinsAA (p.Asp1067Asn) c.3147_3148delinsAA (p.Asp1050Asn) c.3195_3196delinsAA (p.Asp1066Asn) c.3240_3241delinsAA (p.Asp1081Asn) c.3105_3106delinsAA (p.Asp1036Asn) c.3237_3238delinsAA (p.Asp1080Asn) n.310_311delinsAA c.3102_3103delinsAA (p.Asp1035Asn) n.3398_3399delinsAA | COSMIC COSMIC |
2 | g.71570712G>A | CA347217110 | DYSF | c.571G>A (p.Asp191Asn) c.3145G>A (p.Asp1049Asn) c.3199G>A (p.Asp1067Asn) c.3148G>A (p.Asp1050Asn) c.3196G>A (p.Asp1066Asn) c.3241G>A (p.Asp1081Asn) c.3106G>A (p.Asp1036Asn) c.3238G>A (p.Asp1080Asn) n.311G>A c.3103G>A (p.Asp1035Asn) n.3399G>A | |
2 | g.71570712G>C | CA347217112 | DYSF | c.571G>C (p.Asp191His) c.3145G>C (p.Asp1049His) c.3199G>C (p.Asp1067His) c.3148G>C (p.Asp1050His) c.3196G>C (p.Asp1066His) c.3241G>C (p.Asp1081His) c.3106G>C (p.Asp1036His) c.3238G>C (p.Asp1080His) n.311G>C c.3103G>C (p.Asp1035His) n.3399G>C | |
2 | g.71570712G>T | CA347217111 | DYSF | c.571G>T (p.Asp191Tyr) c.3145G>T (p.Asp1049Tyr) c.3199G>T (p.Asp1067Tyr) c.3148G>T (p.Asp1050Tyr) c.3196G>T (p.Asp1066Tyr) c.3241G>T (p.Asp1081Tyr) c.3106G>T (p.Asp1036Tyr) c.3238G>T (p.Asp1080Tyr) n.311G>T c.3103G>T (p.Asp1035Tyr) n.3399G>T | gnomAD v4 |
2 | g.71570713A= | CA1260104143 | DYSF | c.572A= (p.Asp191=) c.3146A= (p.Asp1049=) c.3200A= (p.Asp1067=) c.3149A= (p.Asp1050=) c.3197A= (p.Asp1066=) c.3242A= (p.Asp1081=) c.3107A= (p.Asp1036=) c.3239A= (p.Asp1080=) n.312A= c.3104A= (p.Asp1035=) n.3400A= | |
2 | g.71570713A>C | CA347217113 | DYSF | c.572A>C (p.Asp191Ala) c.3146A>C (p.Asp1049Ala) c.3200A>C (p.Asp1067Ala) c.3149A>C (p.Asp1050Ala) c.3197A>C (p.Asp1066Ala) c.3242A>C (p.Asp1081Ala) c.3107A>C (p.Asp1036Ala) c.3239A>C (p.Asp1080Ala) n.312A>C c.3104A>C (p.Asp1035Ala) n.3400A>C | |
2 | g.71570713A>G | CA347217114 | DYSF | c.572A>G (p.Asp191Gly) c.3146A>G (p.Asp1049Gly) c.3200A>G (p.Asp1067Gly) c.3149A>G (p.Asp1050Gly) c.3197A>G (p.Asp1066Gly) c.3242A>G (p.Asp1081Gly) c.3107A>G (p.Asp1036Gly) c.3239A>G (p.Asp1080Gly) n.312A>G c.3104A>G (p.Asp1035Gly) n.3400A>G | dbSNP gnomAD v4 |
2 | g.71570713A>T | CA347217115 | DYSF | c.572A>T (p.Asp191Val) c.3146A>T (p.Asp1049Val) c.3200A>T (p.Asp1067Val) c.3149A>T (p.Asp1050Val) c.3197A>T (p.Asp1066Val) c.3242A>T (p.Asp1081Val) c.3107A>T (p.Asp1036Val) c.3239A>T (p.Asp1080Val) n.312A>T c.3104A>T (p.Asp1035Val) n.3400A>T | |
2 | g.71570713_71570715delinsATC | CA1260104142 | DYSF | c.572_574delinsATC (p.Asp191=) c.3146_3148delinsATC (p.Asp1049=) c.3200_3202delinsATC (p.Asp1067=) c.3149_3151delinsATC (p.Asp1050=) c.3197_3199delinsATC (p.Asp1066=) c.3242_3244delinsATC (p.Asp1081=) c.3107_3109delinsATC (p.Asp1036=) c.3239_3241delinsATC (p.Asp1080=) n.312_314delinsATC c.3104_3106delinsATC (p.Asp1035=) n.3400_3402delinsATC | |
2 | g.71570714T>A | CA49746830 | DYSF | c.573T>A (p.Asp191Glu) c.3147T>A (p.Asp1049Glu) c.3201T>A (p.Asp1067Glu) c.3150T>A (p.Asp1050Glu) c.3198T>A (p.Asp1066Glu) c.3243T>A (p.Asp1081Glu) c.3108T>A (p.Asp1036Glu) c.3240T>A (p.Asp1080Glu) n.313T>A c.3105T>A (p.Asp1035Glu) n.3401T>A | dbSNP gnomAD v4 |
2 | g.71570714T>C | CA49746831 | DYSF | c.573T>C (p.Asp191=) c.3147T>C (p.Asp1049=) c.3201T>C (p.Asp1067=) c.3150T>C (p.Asp1050=) c.3198T>C (p.Asp1066=) c.3243T>C (p.Asp1081=) c.3108T>C (p.Asp1036=) c.3240T>C (p.Asp1080=) n.313T>C c.3105T>C (p.Asp1035=) n.3401T>C | ClinVar dbSNP |
2 | g.71570714T>G | CA347217116 | DYSF | c.573T>G (p.Asp191Glu) c.3147T>G (p.Asp1049Glu) c.3201T>G (p.Asp1067Glu) c.3150T>G (p.Asp1050Glu) c.3198T>G (p.Asp1066Glu) c.3243T>G (p.Asp1081Glu) c.3108T>G (p.Asp1036Glu) c.3240T>G (p.Asp1080Glu) n.313T>G c.3105T>G (p.Asp1035Glu) n.3401T>G | |
2 | g.71570714T= | CA1260104144 | DYSF | c.573T= (p.Asp191=) c.3147T= (p.Asp1049=) c.3201T= (p.Asp1067=) c.3150T= (p.Asp1050=) c.3198T= (p.Asp1066=) c.3243T= (p.Asp1081=) c.3108T= (p.Asp1036=) c.3240T= (p.Asp1080=) n.313T= c.3105T= (p.Asp1035=) n.3401T= | |
2 | g.71570716_71570717del | CA892700654 | DYSF | c.575_576del (p.Leu192GlnfsTer?) c.3149_3150del (p.Leu1050GlnfsTer?) c.3203_3204del (p.Leu1068GlnfsTer?) c.3152_3153del (p.Leu1051GlnfsTer?) c.3200_3201del (p.Leu1067GlnfsTer?) c.3245_3246del (p.Leu1082GlnfsTer?) c.3110_3111del (p.Leu1037GlnfsTer?) c.3242_3243del (p.Leu1081GlnfsTer?) n.315_316del c.3107_3108del (p.Leu1036GlnfsTer?) n.3403_3404del | ClinVar dbSNP |
2 | g.71570715C>A | CA347217117 | DYSF | c.574C>A (p.Leu192Ile) c.3148C>A (p.Leu1050Ile) c.3202C>A (p.Leu1068Ile) c.3151C>A (p.Leu1051Ile) c.3199C>A (p.Leu1067Ile) c.3244C>A (p.Leu1082Ile) c.3109C>A (p.Leu1037Ile) c.3241C>A (p.Leu1081Ile) n.314C>A c.3106C>A (p.Leu1036Ile) n.3402C>A | COSMIC COSMIC |
2 | g.71570715C= | CA1260104145 | DYSF | c.574C= (p.Leu192=) c.3148C= (p.Leu1050=) c.3202C= (p.Leu1068=) c.3151C= (p.Leu1051=) c.3199C= (p.Leu1067=) c.3244C= (p.Leu1082=) c.3109C= (p.Leu1037=) c.3241C= (p.Leu1081=) n.314C= c.3106C= (p.Leu1036=) n.3402C= | |
2 | g.71570715C>G | CA1706460 | DYSF | c.574C>G (p.Leu192Val) c.3148C>G (p.Leu1050Val) c.3202C>G (p.Leu1068Val) c.3151C>G (p.Leu1051Val) c.3199C>G (p.Leu1067Val) c.3244C>G (p.Leu1082Val) c.3109C>G (p.Leu1037Val) c.3241C>G (p.Leu1081Val) n.314C>G c.3106C>G (p.Leu1036Val) n.3402C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570715C>T | CA347217118 | DYSF | c.574C>T (p.Leu192Phe) c.3148C>T (p.Leu1050Phe) c.3202C>T (p.Leu1068Phe) c.3151C>T (p.Leu1051Phe) c.3199C>T (p.Leu1067Phe) c.3244C>T (p.Leu1082Phe) c.3109C>T (p.Leu1037Phe) c.3241C>T (p.Leu1081Phe) n.314C>T c.3106C>T (p.Leu1036Phe) n.3402C>T | |
2 | g.71570716T>A | CA347217119 | DYSF | c.575T>A (p.Leu192His) c.3149T>A (p.Leu1050His) c.3203T>A (p.Leu1068His) c.3152T>A (p.Leu1051His) c.3200T>A (p.Leu1067His) c.3245T>A (p.Leu1082His) c.3110T>A (p.Leu1037His) c.3242T>A (p.Leu1081His) n.315T>A c.3107T>A (p.Leu1036His) n.3403T>A | |
2 | g.71570716T>C | CA347217120 | DYSF | c.575T>C (p.Leu192Pro) c.3149T>C (p.Leu1050Pro) c.3203T>C (p.Leu1068Pro) c.3152T>C (p.Leu1051Pro) c.3200T>C (p.Leu1067Pro) c.3245T>C (p.Leu1082Pro) c.3110T>C (p.Leu1037Pro) c.3242T>C (p.Leu1081Pro) n.315T>C c.3107T>C (p.Leu1036Pro) n.3403T>C | |
2 | g.71570716T>G | CA347217121 | DYSF | c.575T>G (p.Leu192Arg) c.3149T>G (p.Leu1050Arg) c.3203T>G (p.Leu1068Arg) c.3152T>G (p.Leu1051Arg) c.3200T>G (p.Leu1067Arg) c.3245T>G (p.Leu1082Arg) c.3110T>G (p.Leu1037Arg) c.3242T>G (p.Leu1081Arg) n.315T>G c.3107T>G (p.Leu1036Arg) n.3403T>G | |
2 | g.71570717C>A | CA426702108 | DYSF | c.576C>A (p.Leu192=) c.3150C>A (p.Leu1050=) c.3204C>A (p.Leu1068=) c.3153C>A (p.Leu1051=) c.3201C>A (p.Leu1067=) c.3246C>A (p.Leu1082=) c.3111C>A (p.Leu1037=) c.3243C>A (p.Leu1081=) n.316C>A c.3108C>A (p.Leu1036=) n.3404C>A | |
2 | g.71570717C>G | CA426702109 | DYSF | c.576C>G (p.Leu192=) c.3150C>G (p.Leu1050=) c.3204C>G (p.Leu1068=) c.3153C>G (p.Leu1051=) c.3201C>G (p.Leu1067=) c.3246C>G (p.Leu1082=) c.3111C>G (p.Leu1037=) c.3243C>G (p.Leu1081=) n.316C>G c.3108C>G (p.Leu1036=) n.3404C>G | |
2 | g.71570717C>T | CA426702110 | DYSF | c.576C>T (p.Leu192=) c.3150C>T (p.Leu1050=) c.3204C>T (p.Leu1068=) c.3153C>T (p.Leu1051=) c.3201C>T (p.Leu1067=) c.3246C>T (p.Leu1082=) c.3111C>T (p.Leu1037=) c.3243C>T (p.Leu1081=) n.316C>T c.3108C>T (p.Leu1036=) n.3404C>T | COSMIC COSMIC |
2 | g.71570718A= | CA1260104146 | DYSF | c.577A= (p.Ser193=) c.3151A= (p.Ser1051=) c.3205A= (p.Ser1069=) c.3154A= (p.Ser1052=) c.3202A= (p.Ser1068=) c.3247A= (p.Ser1083=) c.3112A= (p.Ser1038=) c.3244A= (p.Ser1082=) n.317A= c.3109A= (p.Ser1037=) n.3405A= | |
2 | g.71570718A>C | CA347217122 | DYSF | c.577A>C (p.Ser193Arg) c.3151A>C (p.Ser1051Arg) c.3205A>C (p.Ser1069Arg) c.3154A>C (p.Ser1052Arg) c.3202A>C (p.Ser1068Arg) c.3247A>C (p.Ser1083Arg) c.3112A>C (p.Ser1038Arg) c.3244A>C (p.Ser1082Arg) n.317A>C c.3109A>C (p.Ser1037Arg) n.3405A>C | |
2 | g.71570718A>G | CA347217124 | DYSF | c.577A>G (p.Ser193Gly) c.3151A>G (p.Ser1051Gly) c.3205A>G (p.Ser1069Gly) c.3154A>G (p.Ser1052Gly) c.3202A>G (p.Ser1068Gly) c.3247A>G (p.Ser1083Gly) c.3112A>G (p.Ser1038Gly) c.3244A>G (p.Ser1082Gly) n.317A>G c.3109A>G (p.Ser1037Gly) n.3405A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570718A>T | CA347217123 | DYSF | c.577A>T (p.Ser193Cys) c.3151A>T (p.Ser1051Cys) c.3205A>T (p.Ser1069Cys) c.3154A>T (p.Ser1052Cys) c.3202A>T (p.Ser1068Cys) c.3247A>T (p.Ser1083Cys) c.3112A>T (p.Ser1038Cys) c.3244A>T (p.Ser1082Cys) n.317A>T c.3109A>T (p.Ser1037Cys) n.3405A>T | |
2 | g.71570719G>A | CA347217125 | DYSF | c.578G>A (p.Ser193Asn) c.3152G>A (p.Ser1051Asn) c.3206G>A (p.Ser1069Asn) c.3155G>A (p.Ser1052Asn) c.3203G>A (p.Ser1068Asn) c.3248G>A (p.Ser1083Asn) c.3113G>A (p.Ser1038Asn) c.3245G>A (p.Ser1082Asn) n.318G>A c.3110G>A (p.Ser1037Asn) n.3406G>A | |
2 | g.71570719G>C | CA347217126 | DYSF | c.578G>C (p.Ser193Thr) c.3152G>C (p.Ser1051Thr) c.3206G>C (p.Ser1069Thr) c.3155G>C (p.Ser1052Thr) c.3203G>C (p.Ser1068Thr) c.3248G>C (p.Ser1083Thr) c.3113G>C (p.Ser1038Thr) c.3245G>C (p.Ser1082Thr) n.318G>C c.3110G>C (p.Ser1037Thr) n.3406G>C | gnomAD v4 |
2 | g.71570719G>T | CA347217127 | DYSF | c.578G>T (p.Ser193Ile) c.3152G>T (p.Ser1051Ile) c.3206G>T (p.Ser1069Ile) c.3155G>T (p.Ser1052Ile) c.3203G>T (p.Ser1068Ile) c.3248G>T (p.Ser1083Ile) c.3113G>T (p.Ser1038Ile) c.3245G>T (p.Ser1082Ile) n.318G>T c.3110G>T (p.Ser1037Ile) n.3406G>T | COSMIC COSMIC |
2 | g.71570720C>A | CA347217128 | DYSF | c.579C>A (p.Ser193Arg) c.3153C>A (p.Ser1051Arg) c.3207C>A (p.Ser1069Arg) c.3156C>A (p.Ser1052Arg) c.3204C>A (p.Ser1068Arg) c.3249C>A (p.Ser1083Arg) c.3114C>A (p.Ser1038Arg) c.3246C>A (p.Ser1082Arg) n.319C>A c.3111C>A (p.Ser1037Arg) n.3407C>A | COSMIC COSMIC |
2 | g.71570720C>G | CA347217129 | DYSF | c.579C>G (p.Ser193Arg) c.3153C>G (p.Ser1051Arg) c.3207C>G (p.Ser1069Arg) c.3156C>G (p.Ser1052Arg) c.3204C>G (p.Ser1068Arg) c.3249C>G (p.Ser1083Arg) c.3114C>G (p.Ser1038Arg) c.3246C>G (p.Ser1082Arg) n.319C>G c.3111C>G (p.Ser1037Arg) n.3407C>G | |
2 | g.71570720C>T | CA426702111 | DYSF | c.579C>T (p.Ser193=) c.3153C>T (p.Ser1051=) c.3207C>T (p.Ser1069=) c.3156C>T (p.Ser1052=) c.3204C>T (p.Ser1068=) c.3249C>T (p.Ser1083=) c.3114C>T (p.Ser1038=) c.3246C>T (p.Ser1082=) n.319C>T c.3111C>T (p.Ser1037=) n.3407C>T | |
2 | g.71570721C>A | CA347217130 | DYSF | c.580C>A (p.Gln194Lys) c.3154C>A (p.Gln1052Lys) c.3208C>A (p.Gln1070Lys) c.3157C>A (p.Gln1053Lys) c.3205C>A (p.Gln1069Lys) c.3250C>A (p.Gln1084Lys) c.3115C>A (p.Gln1039Lys) c.3247C>A (p.Gln1083Lys) n.320C>A c.3112C>A (p.Gln1038Lys) n.3408C>A | ClinVar |
2 | g.71570721C>G | CA347217131 | DYSF | c.580C>G (p.Gln194Glu) c.3154C>G (p.Gln1052Glu) c.3208C>G (p.Gln1070Glu) c.3157C>G (p.Gln1053Glu) c.3205C>G (p.Gln1069Glu) c.3250C>G (p.Gln1084Glu) c.3115C>G (p.Gln1039Glu) c.3247C>G (p.Gln1083Glu) n.320C>G c.3112C>G (p.Gln1038Glu) n.3408C>G | |
2 | g.71570721C>T | CA347217132 | DYSF | c.580C>T (p.Gln194Ter) c.3154C>T (p.Gln1052Ter) c.3208C>T (p.Gln1070Ter) c.3157C>T (p.Gln1053Ter) c.3205C>T (p.Gln1069Ter) c.3250C>T (p.Gln1084Ter) c.3115C>T (p.Gln1039Ter) c.3247C>T (p.Gln1083Ter) n.320C>T c.3112C>T (p.Gln1038Ter) n.3408C>T | |
2 | g.71570722A>C | CA347217133 | DYSF | c.581A>C (p.Gln194Pro) c.3155A>C (p.Gln1052Pro) c.3209A>C (p.Gln1070Pro) c.3158A>C (p.Gln1053Pro) c.3206A>C (p.Gln1069Pro) c.3251A>C (p.Gln1084Pro) c.3116A>C (p.Gln1039Pro) c.3248A>C (p.Gln1083Pro) n.321A>C c.3113A>C (p.Gln1038Pro) n.3409A>C | |
2 | g.71570722A>G | CA347217134 | DYSF | c.581A>G (p.Gln194Arg) c.3155A>G (p.Gln1052Arg) c.3209A>G (p.Gln1070Arg) c.3158A>G (p.Gln1053Arg) c.3206A>G (p.Gln1069Arg) c.3251A>G (p.Gln1084Arg) c.3116A>G (p.Gln1039Arg) c.3248A>G (p.Gln1083Arg) n.321A>G c.3113A>G (p.Gln1038Arg) n.3409A>G | |
2 | g.71570722A>T | CA347217135 | DYSF | c.581A>T (p.Gln194Leu) c.3155A>T (p.Gln1052Leu) c.3209A>T (p.Gln1070Leu) c.3158A>T (p.Gln1053Leu) c.3206A>T (p.Gln1069Leu) c.3251A>T (p.Gln1084Leu) c.3116A>T (p.Gln1039Leu) c.3248A>T (p.Gln1083Leu) n.321A>T c.3113A>T (p.Gln1038Leu) n.3409A>T | |
2 | g.71570723A>C | CA347217136 | DYSF | c.582A>C (p.Gln194His) c.3156A>C (p.Gln1052His) c.3210A>C (p.Gln1070His) c.3159A>C (p.Gln1053His) c.3207A>C (p.Gln1069His) c.3252A>C (p.Gln1084His) c.3117A>C (p.Gln1039His) c.3249A>C (p.Gln1083His) n.322A>C c.3114A>C (p.Gln1038His) n.3410A>C | |
2 | g.71570723A>G | CA426702112 | DYSF | c.582A>G (p.Gln194=) c.3156A>G (p.Gln1052=) c.3210A>G (p.Gln1070=) c.3159A>G (p.Gln1053=) c.3207A>G (p.Gln1069=) c.3252A>G (p.Gln1084=) c.3117A>G (p.Gln1039=) c.3249A>G (p.Gln1083=) n.322A>G c.3114A>G (p.Gln1038=) n.3410A>G | |
2 | g.71570723A>T | CA347217137 | DYSF | c.582A>T (p.Gln194His) c.3156A>T (p.Gln1052His) c.3210A>T (p.Gln1070His) c.3159A>T (p.Gln1053His) c.3207A>T (p.Gln1069His) c.3252A>T (p.Gln1084His) c.3117A>T (p.Gln1039His) c.3249A>T (p.Gln1083His) n.322A>T c.3114A>T (p.Gln1038His) n.3410A>T | |
2 | g.71570724A>C | CA347217140 | DYSF | c.583A>C (p.Met195Leu) c.3157A>C (p.Met1053Leu) c.3211A>C (p.Met1071Leu) c.3160A>C (p.Met1054Leu) c.3208A>C (p.Met1070Leu) c.3253A>C (p.Met1085Leu) c.3118A>C (p.Met1040Leu) c.3250A>C (p.Met1084Leu) n.323A>C c.3115A>C (p.Met1039Leu) n.3411A>C | |
2 | g.71570724A>G | CA347217139 | DYSF | c.583A>G (p.Met195Val) c.3157A>G (p.Met1053Val) c.3211A>G (p.Met1071Val) c.3160A>G (p.Met1054Val) c.3208A>G (p.Met1070Val) c.3253A>G (p.Met1085Val) c.3118A>G (p.Met1040Val) c.3250A>G (p.Met1084Val) n.323A>G c.3115A>G (p.Met1039Val) n.3411A>G | dbSNP |
2 | g.71570724A>T | CA347217138 | DYSF | c.583A>T (p.Met195Leu) c.3157A>T (p.Met1053Leu) c.3211A>T (p.Met1071Leu) c.3160A>T (p.Met1054Leu) c.3208A>T (p.Met1070Leu) c.3253A>T (p.Met1085Leu) c.3118A>T (p.Met1040Leu) c.3250A>T (p.Met1084Leu) n.323A>T c.3115A>T (p.Met1039Leu) n.3411A>T | |
2 | g.71570725T>A | CA347217141 | DYSF | c.584T>A (p.Met195Lys) c.3158T>A (p.Met1053Lys) c.3212T>A (p.Met1071Lys) c.3161T>A (p.Met1054Lys) c.3209T>A (p.Met1070Lys) c.3254T>A (p.Met1085Lys) c.3119T>A (p.Met1040Lys) c.3251T>A (p.Met1084Lys) n.324T>A c.3116T>A (p.Met1039Lys) n.3412T>A | |
2 | g.71570725T>C | CA49746839 | DYSF | c.584T>C (p.Met195Thr) c.3158T>C (p.Met1053Thr) c.3212T>C (p.Met1071Thr) c.3161T>C (p.Met1054Thr) c.3209T>C (p.Met1070Thr) c.3254T>C (p.Met1085Thr) c.3119T>C (p.Met1040Thr) c.3251T>C (p.Met1084Thr) n.324T>C c.3116T>C (p.Met1039Thr) n.3412T>C | dbSNP gnomAD v4 |
2 | g.71570725T>G | CA1706461 | DYSF | c.584T>G (p.Met195Arg) c.3158T>G (p.Met1053Arg) c.3212T>G (p.Met1071Arg) c.3161T>G (p.Met1054Arg) c.3209T>G (p.Met1070Arg) c.3254T>G (p.Met1085Arg) c.3119T>G (p.Met1040Arg) c.3251T>G (p.Met1084Arg) n.324T>G c.3116T>G (p.Met1039Arg) n.3412T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570725T= | CA1260104147 | DYSF | c.584T= (p.Met195=) c.3158T= (p.Met1053=) c.3212T= (p.Met1071=) c.3161T= (p.Met1054=) c.3209T= (p.Met1070=) c.3254T= (p.Met1085=) c.3119T= (p.Met1040=) c.3251T= (p.Met1084=) n.324T= c.3116T= (p.Met1039=) n.3412T= | |
2 | g.71570726G>A | CA347217142 | DYSF | c.585G>A (p.Met195Ile) c.3159G>A (p.Met1053Ile) c.3213G>A (p.Met1071Ile) c.3162G>A (p.Met1054Ile) c.3210G>A (p.Met1070Ile) c.3255G>A (p.Met1085Ile) c.3120G>A (p.Met1040Ile) c.3252G>A (p.Met1084Ile) n.325G>A c.3117G>A (p.Met1039Ile) n.3413G>A | dbSNP gnomAD v2 |
2 | g.71570726G>C | CA347217143 | DYSF | c.585G>C (p.Met195Ile) c.3159G>C (p.Met1053Ile) c.3213G>C (p.Met1071Ile) c.3162G>C (p.Met1054Ile) c.3210G>C (p.Met1070Ile) c.3255G>C (p.Met1085Ile) c.3120G>C (p.Met1040Ile) c.3252G>C (p.Met1084Ile) n.325G>C c.3117G>C (p.Met1039Ile) n.3413G>C | |
2 | g.71570726G= | CA1260104148 | DYSF | c.585G= (p.Met195=) c.3159G= (p.Met1053=) c.3213G= (p.Met1071=) c.3162G= (p.Met1054=) c.3210G= (p.Met1070=) c.3255G= (p.Met1085=) c.3120G= (p.Met1040=) c.3252G= (p.Met1084=) n.325G= c.3117G= (p.Met1039=) n.3413G= | |
2 | g.71570726G>T | CA347217144 | DYSF | c.585G>T (p.Met195Ile) c.3159G>T (p.Met1053Ile) c.3213G>T (p.Met1071Ile) c.3162G>T (p.Met1054Ile) c.3210G>T (p.Met1070Ile) c.3255G>T (p.Met1085Ile) c.3120G>T (p.Met1040Ile) c.3252G>T (p.Met1084Ile) n.325G>T c.3117G>T (p.Met1039Ile) n.3413G>T | |
2 | g.71570727dup | CA2839076570 | DYSF | c.586dup (p.Glu196GlyfsTer?) c.3160dup (p.Glu1054GlyfsTer?) c.3214dup (p.Glu1072GlyfsTer?) c.3163dup (p.Glu1055GlyfsTer?) c.3211dup (p.Glu1071GlyfsTer?) c.3256dup (p.Glu1086GlyfsTer?) c.3121dup (p.Glu1041GlyfsTer?) c.3253dup (p.Glu1085GlyfsTer?) n.326dup c.3118dup (p.Glu1040GlyfsTer?) n.3414dup | |
2 | g.71570727G>A | CA347217145 | DYSF | c.586G>A (p.Glu196Lys) c.3160G>A (p.Glu1054Lys) c.3214G>A (p.Glu1072Lys) c.3163G>A (p.Glu1055Lys) c.3211G>A (p.Glu1071Lys) c.3256G>A (p.Glu1086Lys) c.3121G>A (p.Glu1041Lys) c.3253G>A (p.Glu1085Lys) n.326G>A c.3118G>A (p.Glu1040Lys) n.3414G>A | |
2 | g.71570727G>C | CA347217146 | DYSF | c.586G>C (p.Glu196Gln) c.3160G>C (p.Glu1054Gln) c.3214G>C (p.Glu1072Gln) c.3163G>C (p.Glu1055Gln) c.3211G>C (p.Glu1071Gln) c.3256G>C (p.Glu1086Gln) c.3121G>C (p.Glu1041Gln) c.3253G>C (p.Glu1085Gln) n.326G>C c.3118G>C (p.Glu1040Gln) n.3414G>C | |
2 | g.71570727G>T | CA347217147 | DYSF | c.586G>T (p.Glu196Ter) c.3160G>T (p.Glu1054Ter) c.3214G>T (p.Glu1072Ter) c.3163G>T (p.Glu1055Ter) c.3211G>T (p.Glu1071Ter) c.3256G>T (p.Glu1086Ter) c.3121G>T (p.Glu1041Ter) c.3253G>T (p.Glu1085Ter) n.326G>T c.3118G>T (p.Glu1040Ter) n.3414G>T | |
2 | g.71570728A= | CA1260104149 | DYSF | c.587A= (p.Glu196=) c.3161A= (p.Glu1054=) c.3215A= (p.Glu1072=) c.3164A= (p.Glu1055=) c.3212A= (p.Glu1071=) c.3257A= (p.Glu1086=) c.3122A= (p.Glu1041=) c.3254A= (p.Glu1085=) n.327A= c.3119A= (p.Glu1040=) n.3415A= | |
2 | g.71570728A>C | CA347217148 | DYSF | c.587A>C (p.Glu196Ala) c.3161A>C (p.Glu1054Ala) c.3215A>C (p.Glu1072Ala) c.3164A>C (p.Glu1055Ala) c.3212A>C (p.Glu1071Ala) c.3257A>C (p.Glu1086Ala) c.3122A>C (p.Glu1041Ala) c.3254A>C (p.Glu1085Ala) n.327A>C c.3119A>C (p.Glu1040Ala) n.3415A>C | |
2 | g.71570728A>G | CA347217149 | DYSF | c.587A>G (p.Glu196Gly) c.3161A>G (p.Glu1054Gly) c.3215A>G (p.Glu1072Gly) c.3164A>G (p.Glu1055Gly) c.3212A>G (p.Glu1071Gly) c.3257A>G (p.Glu1086Gly) c.3122A>G (p.Glu1041Gly) c.3254A>G (p.Glu1085Gly) n.327A>G c.3119A>G (p.Glu1040Gly) n.3415A>G | |
2 | g.71570728A>T | CA347217150 | DYSF | c.587A>T (p.Glu196Val) c.3161A>T (p.Glu1054Val) c.3215A>T (p.Glu1072Val) c.3164A>T (p.Glu1055Val) c.3212A>T (p.Glu1071Val) c.3257A>T (p.Glu1086Val) c.3122A>T (p.Glu1041Val) c.3254A>T (p.Glu1085Val) n.327A>T c.3119A>T (p.Glu1040Val) n.3415A>T | |
2 | g.71570729del | CA2580067861 | DYSF | c.588del (p.Ala197HisfsTer2) c.3162del (p.Ala1055HisfsTer2) c.3216del (p.Ala1073HisfsTer2) c.3165del (p.Ala1056HisfsTer2) c.3213del (p.Ala1072HisfsTer2) c.3258del (p.Ala1087HisfsTer2) c.3123del (p.Ala1042HisfsTer2) c.3255del (p.Ala1086HisfsTer2) n.328del c.3120del (p.Ala1041HisfsTer2) n.3416del | ClinVar |
2 | g.71570728_71570729insGG | CA916563878 | DYSF | c.587_588insGG (p.Ala197GlufsTer3) c.3161_3162insGG (p.Ala1055GlufsTer3) c.3215_3216insGG (p.Ala1073GlufsTer3) c.3164_3165insGG (p.Ala1056GlufsTer3) c.3212_3213insGG (p.Ala1072GlufsTer3) c.3257_3258insGG (p.Ala1087GlufsTer3) c.3122_3123insGG (p.Ala1042GlufsTer3) c.3254_3255insGG (p.Ala1086GlufsTer3) n.327_328insGG c.3119_3120insGG (p.Ala1041GlufsTer3) n.3415_3416insGG | dbSNP |
2 | g.71570729A>C | CA347217151 | DYSF | c.588A>C (p.Glu196Asp) c.3162A>C (p.Glu1054Asp) c.3216A>C (p.Glu1072Asp) c.3165A>C (p.Glu1055Asp) c.3213A>C (p.Glu1071Asp) c.3258A>C (p.Glu1086Asp) c.3123A>C (p.Glu1041Asp) c.3255A>C (p.Glu1085Asp) n.328A>C c.3120A>C (p.Glu1040Asp) n.3416A>C | |
2 | g.71570729A>G | CA426702113 | DYSF | c.588A>G (p.Glu196=) c.3162A>G (p.Glu1054=) c.3216A>G (p.Glu1072=) c.3165A>G (p.Glu1055=) c.3213A>G (p.Glu1071=) c.3258A>G (p.Glu1086=) c.3123A>G (p.Glu1041=) c.3255A>G (p.Glu1085=) n.328A>G c.3120A>G (p.Glu1040=) n.3416A>G | |
2 | g.71570729A>T | CA347217152 | DYSF | c.588A>T (p.Glu196Asp) c.3162A>T (p.Glu1054Asp) c.3216A>T (p.Glu1072Asp) c.3165A>T (p.Glu1055Asp) c.3213A>T (p.Glu1071Asp) c.3258A>T (p.Glu1086Asp) c.3123A>T (p.Glu1041Asp) c.3255A>T (p.Glu1085Asp) n.328A>T c.3120A>T (p.Glu1040Asp) n.3416A>T | |
2 | g.71570730G>A | CA347217154 | DYSF | c.589G>A (p.Ala197Thr) c.3163G>A (p.Ala1055Thr) c.3217G>A (p.Ala1073Thr) c.3166G>A (p.Ala1056Thr) c.3214G>A (p.Ala1072Thr) c.3259G>A (p.Ala1087Thr) c.3124G>A (p.Ala1042Thr) c.3256G>A (p.Ala1086Thr) n.329G>A c.3121G>A (p.Ala1041Thr) n.3417G>A | gnomAD v4 |
2 | g.71570730G>C | CA347217155 | DYSF | c.589G>C (p.Ala197Pro) c.3163G>C (p.Ala1055Pro) c.3217G>C (p.Ala1073Pro) c.3166G>C (p.Ala1056Pro) c.3214G>C (p.Ala1072Pro) c.3259G>C (p.Ala1087Pro) c.3124G>C (p.Ala1042Pro) c.3256G>C (p.Ala1086Pro) n.329G>C c.3121G>C (p.Ala1041Pro) n.3417G>C | |
2 | g.71570730G= | CA1260104150 | DYSF | c.589G= (p.Ala197=) c.3163G= (p.Ala1055=) c.3217G= (p.Ala1073=) c.3166G= (p.Ala1056=) c.3214G= (p.Ala1072=) c.3259G= (p.Ala1087=) c.3124G= (p.Ala1042=) c.3256G= (p.Ala1086=) n.329G= c.3121G= (p.Ala1041=) n.3417G= | |
2 | g.71570730G>T | CA347217153 | DYSF | c.589G>T (p.Ala197Ser) c.3163G>T (p.Ala1055Ser) c.3217G>T (p.Ala1073Ser) c.3166G>T (p.Ala1056Ser) c.3214G>T (p.Ala1072Ser) c.3259G>T (p.Ala1087Ser) c.3124G>T (p.Ala1042Ser) c.3256G>T (p.Ala1086Ser) n.329G>T c.3121G>T (p.Ala1041Ser) n.3417G>T | |
2 | g.71570730_71570731insGACGTATGTTGT | CA916563879 | DYSF | c.589_590insGACGTATGTTGT (p.Ala197delinsGlyArgMetLeuSer) c.3163_3164insGACGTATGTTGT (p.Ala1055delinsGlyArgMetLeuSer) c.3217_3218insGACGTATGTTGT (p.Ala1073delinsGlyArgMetLeuSer) c.3166_3167insGACGTATGTTGT (p.Ala1056delinsGlyArgMetLeuSer) c.3214_3215insGACGTATGTTGT (p.Ala1072delinsGlyArgMetLeuSer) c.3259_3260insGACGTATGTTGT (p.Ala1087delinsGlyArgMetLeuSer) c.3124_3125insGACGTATGTTGT (p.Ala1042delinsGlyArgMetLeuSer) c.3256_3257insGACGTATGTTGT (p.Ala1086delinsGlyArgMetLeuSer) n.329_330insGACGTATGTTGT c.3121_3122insGACGTATGTTGT (p.Ala1041delinsGlyArgMetLeuSer) n.3417_3418insGACGTATGTTGT | dbSNP |
2 | g.71570731C>A | CA347217156 | DYSF | c.590C>A (p.Ala197Glu) c.3164C>A (p.Ala1055Glu) c.3218C>A (p.Ala1073Glu) c.3167C>A (p.Ala1056Glu) c.3215C>A (p.Ala1072Glu) c.3260C>A (p.Ala1087Glu) c.3125C>A (p.Ala1042Glu) c.3257C>A (p.Ala1086Glu) n.330C>A c.3122C>A (p.Ala1041Glu) n.3418C>A | |
2 | g.71570731C= | CA1260104151 | DYSF | c.590C= (p.Ala197=) c.3164C= (p.Ala1055=) c.3218C= (p.Ala1073=) c.3167C= (p.Ala1056=) c.3215C= (p.Ala1072=) c.3260C= (p.Ala1087=) c.3125C= (p.Ala1042=) c.3257C= (p.Ala1086=) n.330C= c.3122C= (p.Ala1041=) n.3418C= | |
2 | g.71570731C>G | CA347217157 | DYSF | c.590C>G (p.Ala197Gly) c.3164C>G (p.Ala1055Gly) c.3218C>G (p.Ala1073Gly) c.3167C>G (p.Ala1056Gly) c.3215C>G (p.Ala1072Gly) c.3260C>G (p.Ala1087Gly) c.3125C>G (p.Ala1042Gly) c.3257C>G (p.Ala1086Gly) n.330C>G c.3122C>G (p.Ala1041Gly) n.3418C>G | |
2 | g.71570731C>T | CA1706462 | DYSF | c.590C>T (p.Ala197Val) c.3164C>T (p.Ala1055Val) c.3218C>T (p.Ala1073Val) c.3167C>T (p.Ala1056Val) c.3215C>T (p.Ala1072Val) c.3260C>T (p.Ala1087Val) c.3125C>T (p.Ala1042Val) c.3257C>T (p.Ala1086Val) n.330C>T c.3122C>T (p.Ala1041Val) n.3418C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570732A= | CA1260104152 | DYSF | c.591A= (p.Ala197=) c.3165A= (p.Ala1055=) c.3219A= (p.Ala1073=) c.3168A= (p.Ala1056=) c.3216A= (p.Ala1072=) c.3261A= (p.Ala1087=) c.3126A= (p.Ala1042=) c.3258A= (p.Ala1086=) n.331A= c.3123A= (p.Ala1041=) n.3419A= | |
2 | g.71570732A>C | CA426702114 | DYSF | c.591A>C (p.Ala197=) c.3165A>C (p.Ala1055=) c.3219A>C (p.Ala1073=) c.3168A>C (p.Ala1056=) c.3216A>C (p.Ala1072=) c.3261A>C (p.Ala1087=) c.3126A>C (p.Ala1042=) c.3258A>C (p.Ala1086=) n.331A>C c.3123A>C (p.Ala1041=) n.3419A>C | ClinVar dbSNP gnomAD v4 |
2 | g.71570732A>G | CA426702115 | DYSF | c.591A>G (p.Ala197=) c.3165A>G (p.Ala1055=) c.3219A>G (p.Ala1073=) c.3168A>G (p.Ala1056=) c.3216A>G (p.Ala1072=) c.3261A>G (p.Ala1087=) c.3126A>G (p.Ala1042=) c.3258A>G (p.Ala1086=) n.331A>G c.3123A>G (p.Ala1041=) n.3419A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71570732A>T | CA426702116 | DYSF | c.591A>T (p.Ala197=) c.3165A>T (p.Ala1055=) c.3219A>T (p.Ala1073=) c.3168A>T (p.Ala1056=) c.3216A>T (p.Ala1072=) c.3261A>T (p.Ala1087=) c.3126A>T (p.Ala1042=) c.3258A>T (p.Ala1086=) n.331A>T c.3123A>T (p.Ala1041=) n.3419A>T | gnomAD v4 |
2 | g.71570733C>A | CA347217158 | DYSF | c.592C>A (p.Leu198Met) c.3166C>A (p.Leu1056Met) c.3220C>A (p.Leu1074Met) c.3169C>A (p.Leu1057Met) c.3217C>A (p.Leu1073Met) c.3262C>A (p.Leu1088Met) c.3127C>A (p.Leu1043Met) c.3259C>A (p.Leu1087Met) n.332C>A c.3124C>A (p.Leu1042Met) n.3420C>A | |
2 | g.71570733C>G | CA347217159 | DYSF | c.592C>G (p.Leu198Val) c.3166C>G (p.Leu1056Val) c.3220C>G (p.Leu1074Val) c.3169C>G (p.Leu1057Val) c.3217C>G (p.Leu1073Val) c.3262C>G (p.Leu1088Val) c.3127C>G (p.Leu1043Val) c.3259C>G (p.Leu1087Val) n.332C>G c.3124C>G (p.Leu1042Val) n.3420C>G | |
2 | g.71570733C>T | CA426702117 | DYSF | c.592C>T (p.Leu198=) c.3166C>T (p.Leu1056=) c.3220C>T (p.Leu1074=) c.3169C>T (p.Leu1057=) c.3217C>T (p.Leu1073=) c.3262C>T (p.Leu1088=) c.3127C>T (p.Leu1043=) c.3259C>T (p.Leu1087=) n.332C>T c.3124C>T (p.Leu1042=) n.3420C>T | ClinVar |
2 | g.71570734T>A | CA347217160 | DYSF | c.593T>A (p.Leu198Gln) c.3167T>A (p.Leu1056Gln) c.3221T>A (p.Leu1074Gln) c.3170T>A (p.Leu1057Gln) c.3218T>A (p.Leu1073Gln) c.3263T>A (p.Leu1088Gln) c.3128T>A (p.Leu1043Gln) c.3260T>A (p.Leu1087Gln) n.333T>A c.3125T>A (p.Leu1042Gln) n.3421T>A | |
2 | g.71570734T>C | CA347217161 | DYSF | c.593T>C (p.Leu198Pro) c.3167T>C (p.Leu1056Pro) c.3221T>C (p.Leu1074Pro) c.3170T>C (p.Leu1057Pro) c.3218T>C (p.Leu1073Pro) c.3263T>C (p.Leu1088Pro) c.3128T>C (p.Leu1043Pro) c.3260T>C (p.Leu1087Pro) n.333T>C c.3125T>C (p.Leu1042Pro) n.3421T>C | gnomAD v4 |
2 | g.71570734T>G | CA347217162 | DYSF | c.593T>G (p.Leu198Arg) c.3167T>G (p.Leu1056Arg) c.3221T>G (p.Leu1074Arg) c.3170T>G (p.Leu1057Arg) c.3218T>G (p.Leu1073Arg) c.3263T>G (p.Leu1088Arg) c.3128T>G (p.Leu1043Arg) c.3260T>G (p.Leu1087Arg) n.333T>G c.3125T>G (p.Leu1042Arg) n.3421T>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71570734T= | CA1260104153 | DYSF | c.593T= (p.Leu198=) c.3167T= (p.Leu1056=) c.3221T= (p.Leu1074=) c.3170T= (p.Leu1057=) c.3218T= (p.Leu1073=) c.3263T= (p.Leu1088=) c.3128T= (p.Leu1043=) c.3260T= (p.Leu1087=) n.333T= c.3125T= (p.Leu1042=) n.3421T= | |
2 | g.71570735G>A | CA426702118 | DYSF | c.594G>A (p.Leu198=) c.3168G>A (p.Leu1056=) c.3222G>A (p.Leu1074=) c.3171G>A (p.Leu1057=) c.3219G>A (p.Leu1073=) c.3264G>A (p.Leu1088=) c.3129G>A (p.Leu1043=) c.3261G>A (p.Leu1087=) n.334G>A c.3126G>A (p.Leu1042=) n.3422G>A | |
2 | g.71570735G>C | CA426702119 | DYSF | c.594G>C (p.Leu198=) c.3168G>C (p.Leu1056=) c.3222G>C (p.Leu1074=) c.3171G>C (p.Leu1057=) c.3219G>C (p.Leu1073=) c.3264G>C (p.Leu1088=) c.3129G>C (p.Leu1043=) c.3261G>C (p.Leu1087=) n.334G>C c.3126G>C (p.Leu1042=) n.3422G>C | |
2 | g.71570735G>T | CA426702120 | DYSF | c.594G>T (p.Leu198=) c.3168G>T (p.Leu1056=) c.3222G>T (p.Leu1074=) c.3171G>T (p.Leu1057=) c.3219G>T (p.Leu1073=) c.3264G>T (p.Leu1088=) c.3129G>T (p.Leu1043=) c.3261G>T (p.Leu1087=) n.334G>T c.3126G>T (p.Leu1042=) n.3422G>T | |
2 | g.71570736A>C | CA347217163 | DYSF | c.595A>C (p.Lys199Gln) c.3169A>C (p.Lys1057Gln) c.3223A>C (p.Lys1075Gln) c.3172A>C (p.Lys1058Gln) c.3220A>C (p.Lys1074Gln) c.3265A>C (p.Lys1089Gln) c.3130A>C (p.Lys1044Gln) c.3262A>C (p.Lys1088Gln) n.335A>C c.3127A>C (p.Lys1043Gln) n.3423A>C | |
2 | g.71570736A>G | CA347217164 | DYSF | c.595A>G (p.Lys199Glu) c.3169A>G (p.Lys1057Glu) c.3223A>G (p.Lys1075Glu) c.3172A>G (p.Lys1058Glu) c.3220A>G (p.Lys1074Glu) c.3265A>G (p.Lys1089Glu) c.3130A>G (p.Lys1044Glu) c.3262A>G (p.Lys1088Glu) n.335A>G c.3127A>G (p.Lys1043Glu) n.3423A>G | |
2 | g.71570736A>T | CA347217165 | DYSF | c.595A>T (p.Lys199Ter) c.3169A>T (p.Lys1057Ter) c.3223A>T (p.Lys1075Ter) c.3172A>T (p.Lys1058Ter) c.3220A>T (p.Lys1074Ter) c.3265A>T (p.Lys1089Ter) c.3130A>T (p.Lys1044Ter) c.3262A>T (p.Lys1088Ter) n.335A>T c.3127A>T (p.Lys1043Ter) n.3423A>T | |
2 | g.71570739del | CA2840543153 | DYSF | c.598del (p.Arg200GlyfsTer?) c.3172del (p.Arg1058GlyfsTer?) c.3226del (p.Arg1076GlyfsTer?) c.3175del (p.Arg1059GlyfsTer?) c.3223del (p.Arg1075GlyfsTer?) c.3268del (p.Arg1090GlyfsTer?) c.3133del (p.Arg1045GlyfsTer?) c.3265del (p.Arg1089GlyfsTer?) n.338del c.3130del (p.Arg1044GlyfsTer?) n.3426del | |
2 | g.71570737A>C | CA347217168 | DYSF | c.596A>C (p.Lys199Thr) c.3170A>C (p.Lys1057Thr) c.3224A>C (p.Lys1075Thr) c.3173A>C (p.Lys1058Thr) c.3221A>C (p.Lys1074Thr) c.3266A>C (p.Lys1089Thr) c.3131A>C (p.Lys1044Thr) c.3263A>C (p.Lys1088Thr) n.336A>C c.3128A>C (p.Lys1043Thr) n.3424A>C | |
2 | g.71570737A>G | CA347217167 | DYSF | c.596A>G (p.Lys199Arg) c.3170A>G (p.Lys1057Arg) c.3224A>G (p.Lys1075Arg) c.3173A>G (p.Lys1058Arg) c.3221A>G (p.Lys1074Arg) c.3266A>G (p.Lys1089Arg) c.3131A>G (p.Lys1044Arg) c.3263A>G (p.Lys1088Arg) n.336A>G c.3128A>G (p.Lys1043Arg) n.3424A>G | |
2 | g.71570737A>T | CA347217166 | DYSF | c.596A>T (p.Lys199Ile) c.3170A>T (p.Lys1057Ile) c.3224A>T (p.Lys1075Ile) c.3173A>T (p.Lys1058Ile) c.3221A>T (p.Lys1074Ile) c.3266A>T (p.Lys1089Ile) c.3131A>T (p.Lys1044Ile) c.3263A>T (p.Lys1088Ile) n.336A>T c.3128A>T (p.Lys1043Ile) n.3424A>T | |
2 | g.71570738A>C | CA347217169 | DYSF | c.597A>C (p.Lys199Asn) c.3171A>C (p.Lys1057Asn) c.3225A>C (p.Lys1075Asn) c.3174A>C (p.Lys1058Asn) c.3222A>C (p.Lys1074Asn) c.3267A>C (p.Lys1089Asn) c.3132A>C (p.Lys1044Asn) c.3264A>C (p.Lys1088Asn) n.337A>C c.3129A>C (p.Lys1043Asn) n.3425A>C | |
2 | g.71570738A>G | CA426702121 | DYSF | c.597A>G (p.Lys199=) c.3171A>G (p.Lys1057=) c.3225A>G (p.Lys1075=) c.3174A>G (p.Lys1058=) c.3222A>G (p.Lys1074=) c.3267A>G (p.Lys1089=) c.3132A>G (p.Lys1044=) c.3264A>G (p.Lys1088=) n.337A>G c.3129A>G (p.Lys1043=) n.3425A>G | |
2 | g.71570738A>T | CA347217170 | DYSF | c.597A>T (p.Lys199Asn) c.3171A>T (p.Lys1057Asn) c.3225A>T (p.Lys1075Asn) c.3174A>T (p.Lys1058Asn) c.3222A>T (p.Lys1074Asn) c.3267A>T (p.Lys1089Asn) c.3132A>T (p.Lys1044Asn) c.3264A>T (p.Lys1088Asn) n.337A>T c.3129A>T (p.Lys1043Asn) n.3425A>T | |
2 | g.71570739A>C | CA426702122 | DYSF | c.598A>C (p.Arg200=) c.3172A>C (p.Arg1058=) c.3226A>C (p.Arg1076=) c.3175A>C (p.Arg1059=) c.3223A>C (p.Arg1075=) c.3268A>C (p.Arg1090=) c.3133A>C (p.Arg1045=) c.3265A>C (p.Arg1089=) n.338A>C c.3130A>C (p.Arg1044=) n.3426A>C | |
2 | g.71570739A>G | CA347217171 | DYSF | c.598A>G (p.Arg200Gly) c.3172A>G (p.Arg1058Gly) c.3226A>G (p.Arg1076Gly) c.3175A>G (p.Arg1059Gly) c.3223A>G (p.Arg1075Gly) c.3268A>G (p.Arg1090Gly) c.3133A>G (p.Arg1045Gly) c.3265A>G (p.Arg1089Gly) n.338A>G c.3130A>G (p.Arg1044Gly) n.3426A>G | |
2 | g.71570739A>T | CA347217172 | DYSF | c.598A>T (p.Arg200Trp) c.3172A>T (p.Arg1058Trp) c.3226A>T (p.Arg1076Trp) c.3175A>T (p.Arg1059Trp) c.3223A>T (p.Arg1075Trp) c.3268A>T (p.Arg1090Trp) c.3133A>T (p.Arg1045Trp) c.3265A>T (p.Arg1089Trp) n.338A>T c.3130A>T (p.Arg1044Trp) n.3426A>T | |
2 | g.71570740G>A | CA347217173 | DYSF | c.599G>A (p.Arg200Lys) c.3173G>A (p.Arg1058Lys) c.3227G>A (p.Arg1076Lys) c.3176G>A (p.Arg1059Lys) c.3224G>A (p.Arg1075Lys) c.3269G>A (p.Arg1090Lys) c.3134G>A (p.Arg1045Lys) c.3266G>A (p.Arg1089Lys) n.339G>A c.3131G>A (p.Arg1044Lys) n.3427G>A | gnomAD v4 |
2 | g.71570740G>C | CA347217174 | DYSF | c.599G>C (p.Arg200Thr) c.3173G>C (p.Arg1058Thr) c.3227G>C (p.Arg1076Thr) c.3176G>C (p.Arg1059Thr) c.3224G>C (p.Arg1075Thr) c.3269G>C (p.Arg1090Thr) c.3134G>C (p.Arg1045Thr) c.3266G>C (p.Arg1089Thr) n.339G>C c.3131G>C (p.Arg1044Thr) n.3427G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570740G= | CA1260104154 | DYSF | c.599G= (p.Arg200=) c.3173G= (p.Arg1058=) c.3227G= (p.Arg1076=) c.3176G= (p.Arg1059=) c.3224G= (p.Arg1075=) c.3269G= (p.Arg1090=) c.3134G= (p.Arg1045=) c.3266G= (p.Arg1089=) n.339G= c.3131G= (p.Arg1044=) n.3427G= | |
2 | g.71570740G>T | CA347217175 | DYSF | c.599G>T (p.Arg200Met) c.3173G>T (p.Arg1058Met) c.3227G>T (p.Arg1076Met) c.3176G>T (p.Arg1059Met) c.3224G>T (p.Arg1075Met) c.3269G>T (p.Arg1090Met) c.3134G>T (p.Arg1045Met) c.3266G>T (p.Arg1089Met) n.339G>T c.3131G>T (p.Arg1044Met) n.3427G>T | |
2 | g.71570741G>A | CA426702123 | DYSF | c.600G>A (p.Arg200=) c.3174G>A (p.Arg1058=) c.3228G>A (p.Arg1076=) c.3177G>A (p.Arg1059=) c.3225G>A (p.Arg1075=) c.3270G>A (p.Arg1090=) c.3135G>A (p.Arg1045=) c.3267G>A (p.Arg1089=) n.340G>A c.3132G>A (p.Arg1044=) n.3428G>A | |
2 | g.71570741G>C | CA347217176 | DYSF | c.600G>C (p.Arg200Ser) c.3174G>C (p.Arg1058Ser) c.3228G>C (p.Arg1076Ser) c.3177G>C (p.Arg1059Ser) c.3225G>C (p.Arg1075Ser) c.3270G>C (p.Arg1090Ser) c.3135G>C (p.Arg1045Ser) c.3267G>C (p.Arg1089Ser) n.340G>C c.3132G>C (p.Arg1044Ser) n.3428G>C | |
2 | g.71570741G>T | CA347217177 | DYSF | c.600G>T (p.Arg200Ser) c.3174G>T (p.Arg1058Ser) c.3228G>T (p.Arg1076Ser) c.3177G>T (p.Arg1059Ser) c.3225G>T (p.Arg1075Ser) c.3270G>T (p.Arg1090Ser) c.3135G>T (p.Arg1045Ser) c.3267G>T (p.Arg1089Ser) n.340G>T c.3132G>T (p.Arg1044Ser) n.3428G>T | |
2 | g.71570742G>A | CA347217178 | DYSF | c.600+1G>A (n.600+1G>A) c.3174+1G>A (n.3174+1G>A) c.3228+1G>A (n.3228+1G>A) c.3177+1G>A (n.3177+1G>A) c.3225+1G>A (n.3225+1G>A) c.3270+1G>A (n.3270+1G>A) c.3135+1G>A (n.3135+1G>A) c.3267+1G>A (n.3267+1G>A) n.341G>A c.3132+1G>A (n.3132+1G>A) n.3428+1G>A | ClinVar dbSNP gnomAD v4 |
2 | g.71570742G>C | CA347217179 | DYSF | c.600+1G>C (n.600+1G>C) c.3174+1G>C (n.3174+1G>C) c.3228+1G>C (n.3228+1G>C) c.3177+1G>C (n.3177+1G>C) c.3225+1G>C (n.3225+1G>C) c.3270+1G>C (n.3270+1G>C) c.3135+1G>C (n.3135+1G>C) c.3267+1G>C (n.3267+1G>C) n.341G>C c.3132+1G>C (n.3132+1G>C) n.3428+1G>C | ClinVar dbSNP gnomAD v4 |
2 | g.71570742G= | CA1260104155 | DYSF | c.600+1G= (n.600+1G=) c.3174+1G= (n.3174+1G=) c.3228+1G= (n.3228+1G=) c.3177+1G= (n.3177+1G=) c.3225+1G= (n.3225+1G=) c.3270+1G= (n.3270+1G=) c.3135+1G= (n.3135+1G=) c.3267+1G= (n.3267+1G=) n.341G= c.3132+1G= (n.3132+1G=) n.3428+1G= | |
2 | g.71570742G>T | CA347217180 | DYSF | c.600+1G>T (n.600+1G>T) c.3174+1G>T (n.3174+1G>T) c.3228+1G>T (n.3228+1G>T) c.3177+1G>T (n.3177+1G>T) c.3225+1G>T (n.3225+1G>T) c.3270+1G>T (n.3270+1G>T) c.3135+1G>T (n.3135+1G>T) c.3267+1G>T (n.3267+1G>T) n.341G>T c.3132+1G>T (n.3132+1G>T) n.3428+1G>T | |
2 | g.71570743T>A | CA347217183 | DYSF | c.600+2T>A (n.600+2T>A) c.3174+2T>A (n.3174+2T>A) c.3228+2T>A (n.3228+2T>A) c.3177+2T>A (n.3177+2T>A) c.3225+2T>A (n.3225+2T>A) c.3270+2T>A (n.3270+2T>A) c.3135+2T>A (n.3135+2T>A) c.3267+2T>A (n.3267+2T>A) n.342T>A c.3132+2T>A (n.3132+2T>A) n.3428+2T>A | |
2 | g.71570743T>C | CA347217182 | DYSF | c.600+2T>C (n.600+2T>C) c.3174+2T>C (n.3174+2T>C) c.3228+2T>C (n.3228+2T>C) c.3177+2T>C (n.3177+2T>C) c.3225+2T>C (n.3225+2T>C) c.3270+2T>C (n.3270+2T>C) c.3135+2T>C (n.3135+2T>C) c.3267+2T>C (n.3267+2T>C) n.342T>C c.3132+2T>C (n.3132+2T>C) n.3428+2T>C | |
2 | g.71570743T>G | CA347217181 | DYSF | c.600+2T>G (n.600+2T>G) c.3174+2T>G (n.3174+2T>G) c.3228+2T>G (n.3228+2T>G) c.3177+2T>G (n.3177+2T>G) c.3225+2T>G (n.3225+2T>G) c.3270+2T>G (n.3270+2T>G) c.3135+2T>G (n.3135+2T>G) c.3267+2T>G (n.3267+2T>G) n.342T>G c.3132+2T>G (n.3132+2T>G) n.3428+2T>G | |
2 | g.71570744G>A | CA2659549639 | DYSF | c.600+3G>A (n.600+3G>A) c.3174+3G>A (n.3174+3G>A) c.3228+3G>A (n.3228+3G>A) c.3177+3G>A (n.3177+3G>A) c.3225+3G>A (n.3225+3G>A) c.3270+3G>A (n.3270+3G>A) c.3135+3G>A (n.3135+3G>A) c.3267+3G>A (n.3267+3G>A) n.343G>A c.3132+3G>A (n.3132+3G>A) n.3428+3G>A | gnomAD v4 |
2 | g.71570744G>T | CA2838706869 | DYSF | c.600+3G>T (n.600+3G>T) c.3174+3G>T (n.3174+3G>T) c.3228+3G>T (n.3228+3G>T) c.3177+3G>T (n.3177+3G>T) c.3225+3G>T (n.3225+3G>T) c.3270+3G>T (n.3270+3G>T) c.3135+3G>T (n.3135+3G>T) c.3267+3G>T (n.3267+3G>T) n.343G>T c.3132+3G>T (n.3132+3G>T) n.3428+3G>T | |
2 | g.71570745_71570771del | CA913090724 | DYSF | c.600+4_600+30del (n.600+4_600+30del) c.3174+4_3174+30del (n.3174+4_3174+30del) c.3228+4_3228+30del (n.3228+4_3228+30del) c.3177+4_3177+30del (n.3177+4_3177+30del) c.3225+4_3225+30del (n.3225+4_3225+30del) c.3270+4_3270+30del (n.3270+4_3270+30del) c.3135+4_3135+30del (n.3135+4_3135+30del) c.3267+4_3267+30del (n.3267+4_3267+30del) n.344_370del c.3132+4_3132+30del (n.3132+4_3132+30del) n.3428+4_3428+30del | |
2 | g.71570745_71570771delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG | CA1260104156 | DYSF | c.600+4_600+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG (n.600+4_600+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG) c.3174+4_3174+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG (n.3174+4_3174+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG) c.3228+4_3228+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG (n.3228+4_3228+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG) c.3177+4_3177+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG (n.3177+4_3177+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG) c.3225+4_3225+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG (n.3225+4_3225+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG) c.3270+4_3270+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG (n.3270+4_3270+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG) c.3135+4_3135+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG (n.3135+4_3135+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG) c.3267+4_3267+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG (n.3267+4_3267+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG) n.344_370delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG c.3132+4_3132+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG (n.3132+4_3132+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG) n.3428+4_3428+30delinsAGCCAGCAGGTGGTGGGTGGGAGTGAG | |
2 | g.71570746G>T | CA2840543154 | DYSF | c.600+5G>T (n.600+5G>T) c.3174+5G>T (n.3174+5G>T) c.3228+5G>T (n.3228+5G>T) c.3177+5G>T (n.3177+5G>T) c.3225+5G>T (n.3225+5G>T) c.3270+5G>T (n.3270+5G>T) c.3135+5G>T (n.3135+5G>T) c.3267+5G>T (n.3267+5G>T) n.345G>T c.3132+5G>T (n.3132+5G>T) n.3428+5G>T | |
2 | g.71570749_71570774del | CA658822443 | DYSF | c.600+8_600+33del (n.600+8_600+33del) c.3174+8_3174+33del (n.3174+8_3174+33del) c.3228+8_3228+33del (n.3228+8_3228+33del) c.3177+8_3177+33del (n.3177+8_3177+33del) c.3225+8_3225+33del (n.3225+8_3225+33del) c.3270+8_3270+33del (n.3270+8_3270+33del) c.3135+8_3135+33del (n.3135+8_3135+33del) c.3267+8_3267+33del (n.3267+8_3267+33del) n.348_373del c.3132+8_3132+33del (n.3132+8_3132+33del) n.3428+8_3428+33del | ClinVar dbSNP |
2 | g.71570747C>A | CA1260104158 | DYSF | c.600+6C>A (n.600+6C>A) c.3174+6C>A (n.3174+6C>A) c.3228+6C>A (n.3228+6C>A) c.3177+6C>A (n.3177+6C>A) c.3225+6C>A (n.3225+6C>A) c.3270+6C>A (n.3270+6C>A) c.3135+6C>A (n.3135+6C>A) c.3267+6C>A (n.3267+6C>A) n.346C>A c.3132+6C>A (n.3132+6C>A) n.3428+6C>A | dbSNP |
2 | g.71570747C= | CA1260104157 | DYSF | c.600+6C= (n.600+6C=) c.3174+6C= (n.3174+6C=) c.3228+6C= (n.3228+6C=) c.3177+6C= (n.3177+6C=) c.3225+6C= (n.3225+6C=) c.3270+6C= (n.3270+6C=) c.3135+6C= (n.3135+6C=) c.3267+6C= (n.3267+6C=) n.346C= c.3132+6C= (n.3132+6C=) n.3428+6C= | |
2 | g.71570747C>T | CA2839077143 | DYSF | c.600+6C>T (n.600+6C>T) c.3174+6C>T (n.3174+6C>T) c.3228+6C>T (n.3228+6C>T) c.3177+6C>T (n.3177+6C>T) c.3225+6C>T (n.3225+6C>T) c.3270+6C>T (n.3270+6C>T) c.3135+6C>T (n.3135+6C>T) c.3267+6C>T (n.3267+6C>T) n.346C>T c.3132+6C>T (n.3132+6C>T) n.3428+6C>T | |
2 | g.71570748C>A | CA2577000297 | DYSF | c.600+7C>A (n.600+7C>A) c.3174+7C>A (n.3174+7C>A) c.3228+7C>A (n.3228+7C>A) c.3177+7C>A (n.3177+7C>A) c.3225+7C>A (n.3225+7C>A) c.3270+7C>A (n.3270+7C>A) c.3135+7C>A (n.3135+7C>A) c.3267+7C>A (n.3267+7C>A) n.347C>A c.3132+7C>A (n.3132+7C>A) n.3428+7C>A | |
2 | g.71570748C= | CA1260104159 | DYSF | c.600+7C= (n.600+7C=) c.3174+7C= (n.3174+7C=) c.3228+7C= (n.3228+7C=) c.3177+7C= (n.3177+7C=) c.3225+7C= (n.3225+7C=) c.3270+7C= (n.3270+7C=) c.3135+7C= (n.3135+7C=) c.3267+7C= (n.3267+7C=) n.347C= c.3132+7C= (n.3132+7C=) n.3428+7C= | |
2 | g.71570748C>T | CA1706463 | DYSF | c.600+7C>T (n.600+7C>T) c.3174+7C>T (n.3174+7C>T) c.3228+7C>T (n.3228+7C>T) c.3177+7C>T (n.3177+7C>T) c.3225+7C>T (n.3225+7C>T) c.3270+7C>T (n.3270+7C>T) c.3135+7C>T (n.3135+7C>T) c.3267+7C>T (n.3267+7C>T) n.347C>T c.3132+7C>T (n.3132+7C>T) n.3428+7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570748_71570763dup | CA2739271024 | DYSF | c.600+7_600+22dup (n.600+7_600+22dup) c.3174+7_3174+22dup (n.3174+7_3174+22dup) c.3228+7_3228+22dup (n.3228+7_3228+22dup) c.3177+7_3177+22dup (n.3177+7_3177+22dup) c.3225+7_3225+22dup (n.3225+7_3225+22dup) c.3270+7_3270+22dup (n.3270+7_3270+22dup) c.3135+7_3135+22dup (n.3135+7_3135+22dup) c.3267+7_3267+22dup (n.3267+7_3267+22dup) n.347_362dup c.3132+7_3132+22dup (n.3132+7_3132+22dup) n.3428+7_3428+22dup | ClinVar |
2 | g.71570749A= | CA1260104160 | DYSF | c.600+8A= (n.600+8A=) c.3174+8A= (n.3174+8A=) c.3228+8A= (n.3228+8A=) c.3177+8A= (n.3177+8A=) c.3225+8A= (n.3225+8A=) c.3270+8A= (n.3270+8A=) c.3135+8A= (n.3135+8A=) c.3267+8A= (n.3267+8A=) n.348A= c.3132+8A= (n.3132+8A=) n.3428+8A= | |
2 | g.71570749A>C | CA49746855 | DYSF | c.600+8A>C (n.600+8A>C) c.3174+8A>C (n.3174+8A>C) c.3228+8A>C (n.3228+8A>C) c.3177+8A>C (n.3177+8A>C) c.3225+8A>C (n.3225+8A>C) c.3270+8A>C (n.3270+8A>C) c.3135+8A>C (n.3135+8A>C) c.3267+8A>C (n.3267+8A>C) n.348A>C c.3132+8A>C (n.3132+8A>C) n.3428+8A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570749A>G | CA1706464 | DYSF | c.600+8A>G (n.600+8A>G) c.3174+8A>G (n.3174+8A>G) c.3228+8A>G (n.3228+8A>G) c.3177+8A>G (n.3177+8A>G) c.3225+8A>G (n.3225+8A>G) c.3270+8A>G (n.3270+8A>G) c.3135+8A>G (n.3135+8A>G) c.3267+8A>G (n.3267+8A>G) n.348A>G c.3132+8A>G (n.3132+8A>G) n.3428+8A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71570749A>T | CA2499216215 | DYSF | c.600+8A>T (n.600+8A>T) c.3174+8A>T (n.3174+8A>T) c.3228+8A>T (n.3228+8A>T) c.3177+8A>T (n.3177+8A>T) c.3225+8A>T (n.3225+8A>T) c.3270+8A>T (n.3270+8A>T) c.3135+8A>T (n.3135+8A>T) c.3267+8A>T (n.3267+8A>T) n.348A>T c.3132+8A>T (n.3132+8A>T) n.3428+8A>T | ClinVar dbSNP |
2 | g.71570750G>A | CA2659549640 | DYSF | c.600+9G>A (n.600+9G>A) c.3174+9G>A (n.3174+9G>A) c.3228+9G>A (n.3228+9G>A) c.3177+9G>A (n.3177+9G>A) c.3225+9G>A (n.3225+9G>A) c.3270+9G>A (n.3270+9G>A) c.3135+9G>A (n.3135+9G>A) c.3267+9G>A (n.3267+9G>A) n.349G>A c.3132+9G>A (n.3132+9G>A) n.3428+9G>A | gnomAD v4 |
2 | g.71570750G>T | CA2838348276 | DYSF | c.600+9G>T (n.600+9G>T) c.3174+9G>T (n.3174+9G>T) c.3228+9G>T (n.3228+9G>T) c.3177+9G>T (n.3177+9G>T) c.3225+9G>T (n.3225+9G>T) c.3270+9G>T (n.3270+9G>T) c.3135+9G>T (n.3135+9G>T) c.3267+9G>T (n.3267+9G>T) n.349G>T c.3132+9G>T (n.3132+9G>T) n.3428+9G>T | |
2 | g.71570750_71570751insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT | CA2560923221 | DYSF | c.600+9_600+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.600+9_600+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3174+9_3174+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3228+9_3228+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3177+9_3177+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3225+9_3225+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3270+9_3270+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3270+9_3270+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3135+9_3135+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3135+9_3135+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3267+9_3267+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3267+9_3267+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) n.349_350insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT c.3132+9_3132+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3132+9_3132+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) n.3428+9_3428+10insTCCTTACGGTCGACTTTCTAGTCGCTCCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCAATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT | |
2 | g.71570750_71570751insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | CA2547892238 | DYSF | c.600+9_600+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.600+9_600+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) n.349_350insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT c.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) n.3428+9_3428+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCCGTGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | |
2 | g.71570750_71570751insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | CA2527715200 | DYSF | c.600+9_600+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.600+9_600+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) n.349_350insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT c.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT) n.3428+9_3428+10insTACTTACGGTCGACTTTCTAGTCGCACCCAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCACATATGTTCTCTCACATCATCCGCGTCAAGGGCATCTTCGACGACGAGCCCACCACCAAGAAGCT | |
2 | g.71570750_71570751insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT | CA2538189357 | DYSF | c.600+9_600+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.600+9_600+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3174+9_3174+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3228+9_3228+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3177+9_3177+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3225+9_3225+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3270+9_3270+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3135+9_3135+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) c.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3267+9_3267+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) n.349_350insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT c.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT (n.3132+9_3132+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT) n.3428+9_3428+10insTACTTACGGTCGACTTTCTAGTCGCGCCTAAGGAAAACTACTTCAAGATCAACTGAAAGGAAACCATCTATGTTCTCTCACATCATCCGCGTCCGTGGTATCTTCGACGACGAGCCCACCACCAAGAAGCT | |
2 | g.71570751C>A | CA2739271025 | DYSF | c.600+10C>A (n.600+10C>A) c.3174+10C>A (n.3174+10C>A) c.3228+10C>A (n.3228+10C>A) c.3177+10C>A (n.3177+10C>A) c.3225+10C>A (n.3225+10C>A) c.3270+10C>A (n.3270+10C>A) c.3135+10C>A (n.3135+10C>A) c.3267+10C>A (n.3267+10C>A) n.350C>A c.3132+10C>A (n.3132+10C>A) n.3428+10C>A | ClinVar |
2 | g.71570751C>T | CA2697548244 | DYSF | c.600+10C>T (n.600+10C>T) c.3174+10C>T (n.3174+10C>T) c.3228+10C>T (n.3228+10C>T) c.3177+10C>T (n.3177+10C>T) c.3225+10C>T (n.3225+10C>T) c.3270+10C>T (n.3270+10C>T) c.3135+10C>T (n.3135+10C>T) c.3267+10C>T (n.3267+10C>T) n.350C>T c.3132+10C>T (n.3132+10C>T) n.3428+10C>T | ClinVar |
2 | g.71570752_71570759delinsAGGTGGTG | CA1260104161 | DYSF | c.600+11_600+18delinsAGGTGGTG (n.600+11_600+18delinsAGGTGGTG) c.3174+11_3174+18delinsAGGTGGTG (n.3174+11_3174+18delinsAGGTGGTG) c.3228+11_3228+18delinsAGGTGGTG (n.3228+11_3228+18delinsAGGTGGTG) c.3177+11_3177+18delinsAGGTGGTG (n.3177+11_3177+18delinsAGGTGGTG) c.3225+11_3225+18delinsAGGTGGTG (n.3225+11_3225+18delinsAGGTGGTG) c.3270+11_3270+18delinsAGGTGGTG (n.3270+11_3270+18delinsAGGTGGTG) c.3135+11_3135+18delinsAGGTGGTG (n.3135+11_3135+18delinsAGGTGGTG) c.3267+11_3267+18delinsAGGTGGTG (n.3267+11_3267+18delinsAGGTGGTG) n.351_358delinsAGGTGGTG c.3132+11_3132+18delinsAGGTGGTG (n.3132+11_3132+18delinsAGGTGGTG) n.3428+11_3428+18delinsAGGTGGTG | |
2 | g.71570753G>T | CA2839066480 | DYSF | c.600+12G>T (n.600+12G>T) c.3174+12G>T (n.3174+12G>T) c.3228+12G>T (n.3228+12G>T) c.3177+12G>T (n.3177+12G>T) c.3225+12G>T (n.3225+12G>T) c.3270+12G>T (n.3270+12G>T) c.3135+12G>T (n.3135+12G>T) c.3267+12G>T (n.3267+12G>T) n.352G>T c.3132+12G>T (n.3132+12G>T) n.3428+12G>T | |
2 | g.71570758_71570764del | CA1706465 | DYSF | c.600+17_600+23del (n.600+17_600+23del) c.3174+17_3174+23del (n.3174+17_3174+23del) c.3228+17_3228+23del (n.3228+17_3228+23del) c.3177+17_3177+23del (n.3177+17_3177+23del) c.3225+17_3225+23del (n.3225+17_3225+23del) c.3270+17_3270+23del (n.3270+17_3270+23del) c.3135+17_3135+23del (n.3135+17_3135+23del) c.3267+17_3267+23del (n.3267+17_3267+23del) n.357_363del c.3132+17_3132+23del (n.3132+17_3132+23del) n.3428+17_3428+23del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71570754G>A | CA49746856 | DYSF | c.600+13G>A (n.600+13G>A) c.3174+13G>A (n.3174+13G>A) c.3228+13G>A (n.3228+13G>A) c.3177+13G>A (n.3177+13G>A) c.3225+13G>A (n.3225+13G>A) c.3270+13G>A (n.3270+13G>A) c.3135+13G>A (n.3135+13G>A) c.3267+13G>A (n.3267+13G>A) n.353G>A c.3132+13G>A (n.3132+13G>A) n.3428+13G>A | ClinVar dbSNP |
2 | g.71570754G= | CA1260104162 | DYSF | c.600+13G= (n.600+13G=) c.3174+13G= (n.3174+13G=) c.3228+13G= (n.3228+13G=) c.3177+13G= (n.3177+13G=) c.3225+13G= (n.3225+13G=) c.3270+13G= (n.3270+13G=) c.3135+13G= (n.3135+13G=) c.3267+13G= (n.3267+13G=) n.353G= c.3132+13G= (n.3132+13G=) n.3428+13G= | |
2 | g.71570754G>T | CA2659549641 | DYSF | c.600+13G>T (n.600+13G>T) c.3174+13G>T (n.3174+13G>T) c.3228+13G>T (n.3228+13G>T) c.3177+13G>T (n.3177+13G>T) c.3225+13G>T (n.3225+13G>T) c.3270+13G>T (n.3270+13G>T) c.3135+13G>T (n.3135+13G>T) c.3267+13G>T (n.3267+13G>T) n.353G>T c.3132+13G>T (n.3132+13G>T) n.3428+13G>T | gnomAD v4 |
2 | g.71570756G>T | CA2840543155 | DYSF | c.600+15G>T (n.600+15G>T) c.3174+15G>T (n.3174+15G>T) c.3228+15G>T (n.3228+15G>T) c.3177+15G>T (n.3177+15G>T) c.3225+15G>T (n.3225+15G>T) c.3270+15G>T (n.3270+15G>T) c.3135+15G>T (n.3135+15G>T) c.3267+15G>T (n.3267+15G>T) n.355G>T c.3132+15G>T (n.3132+15G>T) n.3428+15G>T | |
2 | g.71570757del | CA2838706851 | DYSF | c.600+16del (n.600+16del) c.3174+16del (n.3174+16del) c.3228+16del (n.3228+16del) c.3177+16del (n.3177+16del) c.3225+16del (n.3225+16del) c.3270+16del (n.3270+16del) c.3135+16del (n.3135+16del) c.3267+16del (n.3267+16del) n.356del c.3132+16del (n.3132+16del) n.3428+16del | |
2 | g.71570757G>A | CA892700725 | DYSF | c.600+16G>A (n.600+16G>A) c.3174+16G>A (n.3174+16G>A) c.3228+16G>A (n.3228+16G>A) c.3177+16G>A (n.3177+16G>A) c.3225+16G>A (n.3225+16G>A) c.3270+16G>A (n.3270+16G>A) c.3135+16G>A (n.3135+16G>A) c.3267+16G>A (n.3267+16G>A) n.356G>A c.3132+16G>A (n.3132+16G>A) n.3428+16G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71570757G= | CA1260104163 | DYSF | c.600+16G= (n.600+16G=) c.3174+16G= (n.3174+16G=) c.3228+16G= (n.3228+16G=) c.3177+16G= (n.3177+16G=) c.3225+16G= (n.3225+16G=) c.3270+16G= (n.3270+16G=) c.3135+16G= (n.3135+16G=) c.3267+16G= (n.3267+16G=) n.356G= c.3132+16G= (n.3132+16G=) n.3428+16G= | |
2 | g.71570757G>T | CA2840543156 | DYSF | c.600+16G>T (n.600+16G>T) c.3174+16G>T (n.3174+16G>T) c.3228+16G>T (n.3228+16G>T) c.3177+16G>T (n.3177+16G>T) c.3225+16G>T (n.3225+16G>T) c.3270+16G>T (n.3270+16G>T) c.3135+16G>T (n.3135+16G>T) c.3267+16G>T (n.3267+16G>T) n.356G>T c.3132+16G>T (n.3132+16G>T) n.3428+16G>T | |
2 | g.71570758T>C | CA1260104164 | DYSF | c.600+17T>C (n.600+17T>C) c.3174+17T>C (n.3174+17T>C) c.3228+17T>C (n.3228+17T>C) c.3177+17T>C (n.3177+17T>C) c.3225+17T>C (n.3225+17T>C) c.3270+17T>C (n.3270+17T>C) c.3135+17T>C (n.3135+17T>C) c.3267+17T>C (n.3267+17T>C) n.357T>C c.3132+17T>C (n.3132+17T>C) n.3428+17T>C | ClinVar dbSNP |
2 | g.71570758T= | CA1260104165 | DYSF | c.600+17T= (n.600+17T=) c.3174+17T= (n.3174+17T=) c.3228+17T= (n.3228+17T=) c.3177+17T= (n.3177+17T=) c.3225+17T= (n.3225+17T=) c.3270+17T= (n.3270+17T=) c.3135+17T= (n.3135+17T=) c.3267+17T= (n.3267+17T=) n.357T= c.3132+17T= (n.3132+17T=) n.3428+17T= | |
2 | g.71570758_71570760delinsTGG | CA1260104166 | DYSF | c.600+17_600+19delinsTGG (n.600+17_600+19delinsTGG) c.3174+17_3174+19delinsTGG (n.3174+17_3174+19delinsTGG) c.3228+17_3228+19delinsTGG (n.3228+17_3228+19delinsTGG) c.3177+17_3177+19delinsTGG (n.3177+17_3177+19delinsTGG) c.3225+17_3225+19delinsTGG (n.3225+17_3225+19delinsTGG) c.3270+17_3270+19delinsTGG (n.3270+17_3270+19delinsTGG) c.3135+17_3135+19delinsTGG (n.3135+17_3135+19delinsTGG) c.3267+17_3267+19delinsTGG (n.3267+17_3267+19delinsTGG) n.357_359delinsTGG c.3132+17_3132+19delinsTGG (n.3132+17_3132+19delinsTGG) n.3428+17_3428+19delinsTGG | |
2 | g.71570760_71570761del | CA49746857 | DYSF | c.600+19_600+20del (n.600+19_600+20del) c.3174+19_3174+20del (n.3174+19_3174+20del) c.3228+19_3228+20del (n.3228+19_3228+20del) c.3177+19_3177+20del (n.3177+19_3177+20del) c.3225+19_3225+20del (n.3225+19_3225+20del) c.3270+19_3270+20del (n.3270+19_3270+20del) c.3135+19_3135+20del (n.3135+19_3135+20del) c.3267+19_3267+20del (n.3267+19_3267+20del) n.359_360del c.3132+19_3132+20del (n.3132+19_3132+20del) n.3428+19_3428+20del | dbSNP gnomAD v4 |
2 | g.71570760G>T | CA2659549642 | DYSF | c.600+19G>T (n.600+19G>T) c.3174+19G>T (n.3174+19G>T) c.3228+19G>T (n.3228+19G>T) c.3177+19G>T (n.3177+19G>T) c.3225+19G>T (n.3225+19G>T) c.3270+19G>T (n.3270+19G>T) c.3135+19G>T (n.3135+19G>T) c.3267+19G>T (n.3267+19G>T) n.359G>T c.3132+19G>T (n.3132+19G>T) n.3428+19G>T | gnomAD v4 |
2 | g.71570761G>A | CA1032076766 | DYSF | c.600+20G>A (n.600+20G>A) c.3174+20G>A (n.3174+20G>A) c.3228+20G>A (n.3228+20G>A) c.3177+20G>A (n.3177+20G>A) c.3225+20G>A (n.3225+20G>A) c.3270+20G>A (n.3270+20G>A) c.3135+20G>A (n.3135+20G>A) c.3267+20G>A (n.3267+20G>A) n.360G>A c.3132+20G>A (n.3132+20G>A) n.3428+20G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71570761G>C | CA2659549643 | DYSF | c.600+20G>C (n.600+20G>C) c.3174+20G>C (n.3174+20G>C) c.3228+20G>C (n.3228+20G>C) c.3177+20G>C (n.3177+20G>C) c.3225+20G>C (n.3225+20G>C) c.3270+20G>C (n.3270+20G>C) c.3135+20G>C (n.3135+20G>C) c.3267+20G>C (n.3267+20G>C) n.360G>C c.3132+20G>C (n.3132+20G>C) n.3428+20G>C | gnomAD v4 |
2 | g.71570761G= | CA1260104167 | DYSF | c.600+20G= (n.600+20G=) c.3174+20G= (n.3174+20G=) c.3228+20G= (n.3228+20G=) c.3177+20G= (n.3177+20G=) c.3225+20G= (n.3225+20G=) c.3270+20G= (n.3270+20G=) c.3135+20G= (n.3135+20G=) c.3267+20G= (n.3267+20G=) n.360G= c.3132+20G= (n.3132+20G=) n.3428+20G= | |
2 | g.71570761G>T | CA892700726 | DYSF | c.600+20G>T (n.600+20G>T) c.3174+20G>T (n.3174+20G>T) c.3228+20G>T (n.3228+20G>T) c.3177+20G>T (n.3177+20G>T) c.3225+20G>T (n.3225+20G>T) c.3270+20G>T (n.3270+20G>T) c.3135+20G>T (n.3135+20G>T) c.3267+20G>T (n.3267+20G>T) n.360G>T c.3132+20G>T (n.3132+20G>T) n.3428+20G>T | dbSNP |
2 | g.71570762T>A | CA2659549644 | DYSF | c.600+21T>A (n.600+21T>A) c.3174+21T>A (n.3174+21T>A) c.3228+21T>A (n.3228+21T>A) c.3177+21T>A (n.3177+21T>A) c.3225+21T>A (n.3225+21T>A) c.3270+21T>A (n.3270+21T>A) c.3135+21T>A (n.3135+21T>A) c.3267+21T>A (n.3267+21T>A) n.361T>A c.3132+21T>A (n.3132+21T>A) n.3428+21T>A | gnomAD v4 |
2 | g.71570762T>C | CA1260104169 | DYSF | c.600+21T>C (n.600+21T>C) c.3174+21T>C (n.3174+21T>C) c.3228+21T>C (n.3228+21T>C) c.3177+21T>C (n.3177+21T>C) c.3225+21T>C (n.3225+21T>C) c.3270+21T>C (n.3270+21T>C) c.3135+21T>C (n.3135+21T>C) c.3267+21T>C (n.3267+21T>C) n.361T>C c.3132+21T>C (n.3132+21T>C) n.3428+21T>C | dbSNP |
2 | g.71570762T= | CA1260104168 | DYSF | c.600+21T= (n.600+21T=) c.3174+21T= (n.3174+21T=) c.3228+21T= (n.3228+21T=) c.3177+21T= (n.3177+21T=) c.3225+21T= (n.3225+21T=) c.3270+21T= (n.3270+21T=) c.3135+21T= (n.3135+21T=) c.3267+21T= (n.3267+21T=) n.361T= c.3132+21T= (n.3132+21T=) n.3428+21T= | |
2 | g.71570763G>T | CA2659549645 | DYSF | c.600+22G>T (n.600+22G>T) c.3174+22G>T (n.3174+22G>T) c.3228+22G>T (n.3228+22G>T) c.3177+22G>T (n.3177+22G>T) c.3225+22G>T (n.3225+22G>T) c.3270+22G>T (n.3270+22G>T) c.3135+22G>T (n.3135+22G>T) c.3267+22G>T (n.3267+22G>T) n.362G>T c.3132+22G>T (n.3132+22G>T) n.3428+22G>T | gnomAD v4 |
2 | g.71570765G>T | CA2838706852 | DYSF | c.600+24G>T (n.600+24G>T) c.3174+24G>T (n.3174+24G>T) c.3228+24G>T (n.3228+24G>T) c.3177+24G>T (n.3177+24G>T) c.3225+24G>T (n.3225+24G>T) c.3270+24G>T (n.3270+24G>T) c.3135+24G>T (n.3135+24G>T) c.3267+24G>T (n.3267+24G>T) n.364G>T c.3132+24G>T (n.3132+24G>T) n.3428+24G>T | |
2 | g.71570767G>A | CA1706466 | DYSF | c.600+26G>A (n.600+26G>A) c.3174+26G>A (n.3174+26G>A) c.3228+26G>A (n.3228+26G>A) c.3177+26G>A (n.3177+26G>A) c.3225+26G>A (n.3225+26G>A) c.3270+26G>A (n.3270+26G>A) c.3135+26G>A (n.3135+26G>A) c.3267+26G>A (n.3267+26G>A) n.366G>A c.3132+26G>A (n.3132+26G>A) n.3428+26G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71570767G= | CA1260104170 | DYSF | c.600+26G= (n.600+26G=) c.3174+26G= (n.3174+26G=) c.3228+26G= (n.3228+26G=) c.3177+26G= (n.3177+26G=) c.3225+26G= (n.3225+26G=) c.3270+26G= (n.3270+26G=) c.3135+26G= (n.3135+26G=) c.3267+26G= (n.3267+26G=) n.366G= c.3132+26G= (n.3132+26G=) n.3428+26G= | |
2 | g.71570768T>C | CA2659549646 | DYSF | c.600+27T>C (n.600+27T>C) c.3174+27T>C (n.3174+27T>C) c.3228+27T>C (n.3228+27T>C) c.3177+27T>C (n.3177+27T>C) c.3225+27T>C (n.3225+27T>C) c.3270+27T>C (n.3270+27T>C) c.3135+27T>C (n.3135+27T>C) c.3267+27T>C (n.3267+27T>C) n.367T>C c.3132+27T>C (n.3132+27T>C) n.3428+27T>C | gnomAD v4 |
2 | g.71570768T>G | CA892700732 | DYSF | c.600+27T>G (n.600+27T>G) c.3174+27T>G (n.3174+27T>G) c.3228+27T>G (n.3228+27T>G) c.3177+27T>G (n.3177+27T>G) c.3225+27T>G (n.3225+27T>G) c.3270+27T>G (n.3270+27T>G) c.3135+27T>G (n.3135+27T>G) c.3267+27T>G (n.3267+27T>G) n.367T>G c.3132+27T>G (n.3132+27T>G) n.3428+27T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71570768T= | CA1260104171 | DYSF | c.600+27T= (n.600+27T=) c.3174+27T= (n.3174+27T=) c.3228+27T= (n.3228+27T=) c.3177+27T= (n.3177+27T=) c.3225+27T= (n.3225+27T=) c.3270+27T= (n.3270+27T=) c.3135+27T= (n.3135+27T=) c.3267+27T= (n.3267+27T=) n.367T= c.3132+27T= (n.3132+27T=) n.3428+27T= | |
2 | g.71570769G>A | CA2659549647 | DYSF | c.600+28G>A (n.600+28G>A) c.3174+28G>A (n.3174+28G>A) c.3228+28G>A (n.3228+28G>A) c.3177+28G>A (n.3177+28G>A) c.3225+28G>A (n.3225+28G>A) c.3270+28G>A (n.3270+28G>A) c.3135+28G>A (n.3135+28G>A) c.3267+28G>A (n.3267+28G>A) n.368G>A c.3132+28G>A (n.3132+28G>A) n.3428+28G>A | gnomAD v4 |
2 | g.71570769G>C | CA1706467 | DYSF | c.600+28G>C (n.600+28G>C) c.3174+28G>C (n.3174+28G>C) c.3228+28G>C (n.3228+28G>C) c.3177+28G>C (n.3177+28G>C) c.3225+28G>C (n.3225+28G>C) c.3270+28G>C (n.3270+28G>C) c.3135+28G>C (n.3135+28G>C) c.3267+28G>C (n.3267+28G>C) n.368G>C c.3132+28G>C (n.3132+28G>C) n.3428+28G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570769G= | CA1260104172 | DYSF | c.600+28G= (n.600+28G=) c.3174+28G= (n.3174+28G=) c.3228+28G= (n.3228+28G=) c.3177+28G= (n.3177+28G=) c.3225+28G= (n.3225+28G=) c.3270+28G= (n.3270+28G=) c.3135+28G= (n.3135+28G=) c.3267+28G= (n.3267+28G=) n.368G= c.3132+28G= (n.3132+28G=) n.3428+28G= | |
2 | g.71570769G>T | CA2699379908 | DYSF | c.600+28G>T (n.600+28G>T) c.3174+28G>T (n.3174+28G>T) c.3228+28G>T (n.3228+28G>T) c.3177+28G>T (n.3177+28G>T) c.3225+28G>T (n.3225+28G>T) c.3270+28G>T (n.3270+28G>T) c.3135+28G>T (n.3135+28G>T) c.3267+28G>T (n.3267+28G>T) n.368G>T c.3132+28G>T (n.3132+28G>T) n.3428+28G>T | dbSNP |
2 | g.71570770A>T | CA2659549648 | DYSF | c.600+29A>T (n.600+29A>T) c.3174+29A>T (n.3174+29A>T) c.3228+29A>T (n.3228+29A>T) c.3177+29A>T (n.3177+29A>T) c.3225+29A>T (n.3225+29A>T) c.3270+29A>T (n.3270+29A>T) c.3135+29A>T (n.3135+29A>T) c.3267+29A>T (n.3267+29A>T) n.369A>T c.3132+29A>T (n.3132+29A>T) n.3428+29A>T | gnomAD v4 |
2 | g.71570771G>T | CA2840543157 | DYSF | c.600+30G>T (n.600+30G>T) c.3174+30G>T (n.3174+30G>T) c.3228+30G>T (n.3228+30G>T) c.3177+30G>T (n.3177+30G>T) c.3225+30G>T (n.3225+30G>T) c.3270+30G>T (n.3270+30G>T) c.3135+30G>T (n.3135+30G>T) c.3267+30G>T (n.3267+30G>T) n.370G>T c.3132+30G>T (n.3132+30G>T) n.3428+30G>T | |
2 | g.71570772G>A | CA2659549649 | DYSF | c.600+31G>A (n.600+31G>A) c.3174+31G>A (n.3174+31G>A) c.3228+31G>A (n.3228+31G>A) c.3177+31G>A (n.3177+31G>A) c.3225+31G>A (n.3225+31G>A) c.3270+31G>A (n.3270+31G>A) c.3135+31G>A (n.3135+31G>A) c.3267+31G>A (n.3267+31G>A) n.371G>A c.3132+31G>A (n.3132+31G>A) n.3428+31G>A | gnomAD v4 |
2 | g.71570772G>C | CA2840048685 | DYSF | c.600+31G>C (n.600+31G>C) c.3174+31G>C (n.3174+31G>C) c.3228+31G>C (n.3228+31G>C) c.3177+31G>C (n.3177+31G>C) c.3225+31G>C (n.3225+31G>C) c.3270+31G>C (n.3270+31G>C) c.3135+31G>C (n.3135+31G>C) c.3267+31G>C (n.3267+31G>C) n.371G>C c.3132+31G>C (n.3132+31G>C) n.3428+31G>C | |
2 | g.71570772G>T | CA2659549650 | DYSF | c.600+31G>T (n.600+31G>T) c.3174+31G>T (n.3174+31G>T) c.3228+31G>T (n.3228+31G>T) c.3177+31G>T (n.3177+31G>T) c.3225+31G>T (n.3225+31G>T) c.3270+31G>T (n.3270+31G>T) c.3135+31G>T (n.3135+31G>T) c.3267+31G>T (n.3267+31G>T) n.371G>T c.3132+31G>T (n.3132+31G>T) n.3428+31G>T | gnomAD v4 |
2 | g.71570773C= | CA1260104173 | DYSF | c.600+32C= (n.600+32C=) c.3174+32C= (n.3174+32C=) c.3228+32C= (n.3228+32C=) c.3177+32C= (n.3177+32C=) c.3225+32C= (n.3225+32C=) c.3270+32C= (n.3270+32C=) c.3135+32C= (n.3135+32C=) c.3267+32C= (n.3267+32C=) n.372C= c.3132+32C= (n.3132+32C=) n.3428+32C= | |
2 | g.71570773C>T | CA1706468 | DYSF | c.600+32C>T (n.600+32C>T) c.3174+32C>T (n.3174+32C>T) c.3228+32C>T (n.3228+32C>T) c.3177+32C>T (n.3177+32C>T) c.3225+32C>T (n.3225+32C>T) c.3270+32C>T (n.3270+32C>T) c.3135+32C>T (n.3135+32C>T) c.3267+32C>T (n.3267+32C>T) n.372C>T c.3132+32C>T (n.3132+32C>T) n.3428+32C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71570774C>T | CA2659549651 | DYSF | c.600+33C>T (n.600+33C>T) c.3174+33C>T (n.3174+33C>T) c.3228+33C>T (n.3228+33C>T) c.3177+33C>T (n.3177+33C>T) c.3225+33C>T (n.3225+33C>T) c.3270+33C>T (n.3270+33C>T) c.3135+33C>T (n.3135+33C>T) c.3267+33C>T (n.3267+33C>T) n.373C>T c.3132+33C>T (n.3132+33C>T) n.3428+33C>T | gnomAD v4 |
2 | g.71570775T>A | CA2840543158 | DYSF | c.600+34T>A (n.600+34T>A) c.3174+34T>A (n.3174+34T>A) c.3228+34T>A (n.3228+34T>A) c.3177+34T>A (n.3177+34T>A) c.3225+34T>A (n.3225+34T>A) c.3270+34T>A (n.3270+34T>A) c.3135+34T>A (n.3135+34T>A) c.3267+34T>A (n.3267+34T>A) n.374T>A c.3132+34T>A (n.3132+34T>A) n.3428+34T>A | |
2 | g.71570775T>C | CA2659549652 | DYSF | c.600+34T>C (n.600+34T>C) c.3174+34T>C (n.3174+34T>C) c.3228+34T>C (n.3228+34T>C) c.3177+34T>C (n.3177+34T>C) c.3225+34T>C (n.3225+34T>C) c.3270+34T>C (n.3270+34T>C) c.3135+34T>C (n.3135+34T>C) c.3267+34T>C (n.3267+34T>C) n.374T>C c.3132+34T>C (n.3132+34T>C) n.3428+34T>C | gnomAD v4 |
2 | g.71570775T= | CA1260104174 | DYSF | c.600+34T= (n.600+34T=) c.3174+34T= (n.3174+34T=) c.3228+34T= (n.3228+34T=) c.3177+34T= (n.3177+34T=) c.3225+34T= (n.3225+34T=) c.3270+34T= (n.3270+34T=) c.3135+34T= (n.3135+34T=) c.3267+34T= (n.3267+34T=) n.374T= c.3132+34T= (n.3132+34T=) n.3428+34T= | |
2 | g.71570777_71570778del | CA2840543159 | DYSF | c.600+36_600+37del (n.600+36_600+37del) c.3174+36_3174+37del (n.3174+36_3174+37del) c.3228+36_3228+37del (n.3228+36_3228+37del) c.3177+36_3177+37del (n.3177+36_3177+37del) c.3225+36_3225+37del (n.3225+36_3225+37del) c.3270+36_3270+37del (n.3270+36_3270+37del) c.3135+36_3135+37del (n.3135+36_3135+37del) c.3267+36_3267+37del (n.3267+36_3267+37del) n.376_377del c.3132+36_3132+37del (n.3132+36_3132+37del) n.3428+36_3428+37del | |
2 | g.71570776G>A | CA1706469 | DYSF | c.600+35G>A (n.600+35G>A) c.3174+35G>A (n.3174+35G>A) c.3228+35G>A (n.3228+35G>A) c.3177+35G>A (n.3177+35G>A) c.3225+35G>A (n.3225+35G>A) c.3270+35G>A (n.3270+35G>A) c.3135+35G>A (n.3135+35G>A) c.3267+35G>A (n.3267+35G>A) n.375G>A c.3132+35G>A (n.3132+35G>A) n.3428+35G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71570776G>C | CA2699379909 | DYSF | c.600+35G>C (n.600+35G>C) c.3174+35G>C (n.3174+35G>C) c.3228+35G>C (n.3228+35G>C) c.3177+35G>C (n.3177+35G>C) c.3225+35G>C (n.3225+35G>C) c.3270+35G>C (n.3270+35G>C) c.3135+35G>C (n.3135+35G>C) c.3267+35G>C (n.3267+35G>C) n.375G>C c.3132+35G>C (n.3132+35G>C) n.3428+35G>C | dbSNP |
2 | g.71570776G= | CA1260104176 | DYSF | c.600+35G= (n.600+35G=) c.3174+35G= (n.3174+35G=) c.3228+35G= (n.3228+35G=) c.3177+35G= (n.3177+35G=) c.3225+35G= (n.3225+35G=) c.3270+35G= (n.3270+35G=) c.3135+35G= (n.3135+35G=) c.3267+35G= (n.3267+35G=) n.375G= c.3132+35G= (n.3132+35G=) n.3428+35G= | |
2 | g.71570778_71570794dup | CA1260104175 | DYSF | c.600+37_600+53dup (n.600+37_600+53dup) c.3174+37_3174+53dup (n.3174+37_3174+53dup) c.3228+37_3228+53dup (n.3228+37_3228+53dup) c.3177+37_3177+53dup (n.3177+37_3177+53dup) c.3225+37_3225+53dup (n.3225+37_3225+53dup) c.3270+37_3270+53dup (n.3270+37_3270+53dup) c.3135+37_3135+53dup (n.3135+37_3135+53dup) c.3267+37_3267+53dup (n.3267+37_3267+53dup) n.377_393dup c.3132+37_3132+53dup (n.3132+37_3132+53dup) n.3428+37_3428+53dup | dbSNP |
2 | g.71570777T>C | CA2659549653 | DYSF | c.600+36T>C (n.600+36T>C) c.3174+36T>C (n.3174+36T>C) c.3228+36T>C (n.3228+36T>C) c.3177+36T>C (n.3177+36T>C) c.3225+36T>C (n.3225+36T>C) c.3270+36T>C (n.3270+36T>C) c.3135+36T>C (n.3135+36T>C) c.3267+36T>C (n.3267+36T>C) n.376T>C c.3132+36T>C (n.3132+36T>C) n.3428+36T>C | gnomAD v4 |
2 | g.71570778G>A | CA1260104178 | DYSF | c.600+37G>A (n.600+37G>A) c.3174+37G>A (n.3174+37G>A) c.3228+37G>A (n.3228+37G>A) c.3177+37G>A (n.3177+37G>A) c.3225+37G>A (n.3225+37G>A) c.3270+37G>A (n.3270+37G>A) c.3135+37G>A (n.3135+37G>A) c.3267+37G>A (n.3267+37G>A) n.377G>A c.3132+37G>A (n.3132+37G>A) n.3428+37G>A | dbSNP |
2 | g.71570778G= | CA1260104177 | DYSF | c.600+37G= (n.600+37G=) c.3174+37G= (n.3174+37G=) c.3228+37G= (n.3228+37G=) c.3177+37G= (n.3177+37G=) c.3225+37G= (n.3225+37G=) c.3270+37G= (n.3270+37G=) c.3135+37G= (n.3135+37G=) c.3267+37G= (n.3267+37G=) n.377G= c.3132+37G= (n.3132+37G=) n.3428+37G= | |
2 | g.71570778G>T | CA2838706856 | DYSF | c.600+37G>T (n.600+37G>T) c.3174+37G>T (n.3174+37G>T) c.3228+37G>T (n.3228+37G>T) c.3177+37G>T (n.3177+37G>T) c.3225+37G>T (n.3225+37G>T) c.3270+37G>T (n.3270+37G>T) c.3135+37G>T (n.3135+37G>T) c.3267+37G>T (n.3267+37G>T) n.377G>T c.3132+37G>T (n.3132+37G>T) n.3428+37G>T | |
2 | g.71570779G>C | CA1706470 | DYSF | c.600+38G>C (n.600+38G>C) c.3174+38G>C (n.3174+38G>C) c.3228+38G>C (n.3228+38G>C) c.3177+38G>C (n.3177+38G>C) c.3225+38G>C (n.3225+38G>C) c.3270+38G>C (n.3270+38G>C) c.3135+38G>C (n.3135+38G>C) c.3267+38G>C (n.3267+38G>C) n.378G>C c.3132+38G>C (n.3132+38G>C) n.3428+38G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71570779G= | CA1260104179 | DYSF | c.600+38G= (n.600+38G=) c.3174+38G= (n.3174+38G=) c.3228+38G= (n.3228+38G=) c.3177+38G= (n.3177+38G=) c.3225+38G= (n.3225+38G=) c.3270+38G= (n.3270+38G=) c.3135+38G= (n.3135+38G=) c.3267+38G= (n.3267+38G=) n.378G= c.3132+38G= (n.3132+38G=) n.3428+38G= | |
2 | g.71570781C>A | CA2659549654 | DYSF | c.600+40C>A (n.600+40C>A) c.3174+40C>A (n.3174+40C>A) c.3228+40C>A (n.3228+40C>A) c.3177+40C>A (n.3177+40C>A) c.3225+40C>A (n.3225+40C>A) c.3270+40C>A (n.3270+40C>A) c.3135+40C>A (n.3135+40C>A) c.3267+40C>A (n.3267+40C>A) n.380C>A c.3132+40C>A (n.3132+40C>A) n.3428+40C>A | gnomAD v4 |
2 | g.71570781C>T | CA2577000300 | DYSF | c.600+40C>T (n.600+40C>T) c.3174+40C>T (n.3174+40C>T) c.3228+40C>T (n.3228+40C>T) c.3177+40C>T (n.3177+40C>T) c.3225+40C>T (n.3225+40C>T) c.3270+40C>T (n.3270+40C>T) c.3135+40C>T (n.3135+40C>T) c.3267+40C>T (n.3267+40C>T) n.380C>T c.3132+40C>T (n.3132+40C>T) n.3428+40C>T | |
2 | g.71570782A>T | CA2840543160 | DYSF | c.600+41A>T (n.600+41A>T) c.3174+41A>T (n.3174+41A>T) c.3228+41A>T (n.3228+41A>T) c.3177+41A>T (n.3177+41A>T) c.3225+41A>T (n.3225+41A>T) c.3270+41A>T (n.3270+41A>T) c.3135+41A>T (n.3135+41A>T) c.3267+41A>T (n.3267+41A>T) n.381A>T c.3132+41A>T (n.3132+41A>T) n.3428+41A>T | |
2 | g.71570783C>A | CA2838706844 | DYSF | c.600+42C>A (n.600+42C>A) c.3174+42C>A (n.3174+42C>A) c.3228+42C>A (n.3228+42C>A) c.3177+42C>A (n.3177+42C>A) c.3225+42C>A (n.3225+42C>A) c.3270+42C>A (n.3270+42C>A) c.3135+42C>A (n.3135+42C>A) c.3267+42C>A (n.3267+42C>A) n.382C>A c.3132+42C>A (n.3132+42C>A) n.3428+42C>A | |
2 | g.71570783C>G | CA2699653792 | DYSF | c.600+42C>G (n.600+42C>G) c.3174+42C>G (n.3174+42C>G) c.3228+42C>G (n.3228+42C>G) c.3177+42C>G (n.3177+42C>G) c.3225+42C>G (n.3225+42C>G) c.3270+42C>G (n.3270+42C>G) c.3135+42C>G (n.3135+42C>G) c.3267+42C>G (n.3267+42C>G) n.382C>G c.3132+42C>G (n.3132+42C>G) n.3428+42C>G | dbSNP |
2 | g.71570783C>T | CA2659549655 | DYSF | c.600+42C>T (n.600+42C>T) c.3174+42C>T (n.3174+42C>T) c.3228+42C>T (n.3228+42C>T) c.3177+42C>T (n.3177+42C>T) c.3225+42C>T (n.3225+42C>T) c.3270+42C>T (n.3270+42C>T) c.3135+42C>T (n.3135+42C>T) c.3267+42C>T (n.3267+42C>T) n.382C>T c.3132+42C>T (n.3132+42C>T) n.3428+42C>T | gnomAD v4 |
2 | g.71570784A= | CA1260104181 | DYSF | c.600+43A= (n.600+43A=) c.3174+43A= (n.3174+43A=) c.3228+43A= (n.3228+43A=) c.3177+43A= (n.3177+43A=) c.3225+43A= (n.3225+43A=) c.3270+43A= (n.3270+43A=) c.3135+43A= (n.3135+43A=) c.3267+43A= (n.3267+43A=) n.383A= c.3132+43A= (n.3132+43A=) n.3428+43A= | |
2 | g.71570784A>T | CA892700733 | DYSF | c.600+43A>T (n.600+43A>T) c.3174+43A>T (n.3174+43A>T) c.3228+43A>T (n.3228+43A>T) c.3177+43A>T (n.3177+43A>T) c.3225+43A>T (n.3225+43A>T) c.3270+43A>T (n.3270+43A>T) c.3135+43A>T (n.3135+43A>T) c.3267+43A>T (n.3267+43A>T) n.383A>T c.3132+43A>T (n.3132+43A>T) n.3428+43A>T | dbSNP |
2 | g.71570784_71570787delinsAGGT | CA1260104180 | DYSF | c.600+43_600+46delinsAGGT (n.600+43_600+46delinsAGGT) c.3174+43_3174+46delinsAGGT (n.3174+43_3174+46delinsAGGT) c.3228+43_3228+46delinsAGGT (n.3228+43_3228+46delinsAGGT) c.3177+43_3177+46delinsAGGT (n.3177+43_3177+46delinsAGGT) c.3225+43_3225+46delinsAGGT (n.3225+43_3225+46delinsAGGT) c.3270+43_3270+46delinsAGGT (n.3270+43_3270+46delinsAGGT) c.3135+43_3135+46delinsAGGT (n.3135+43_3135+46delinsAGGT) c.3267+43_3267+46delinsAGGT (n.3267+43_3267+46delinsAGGT) n.383_386delinsAGGT c.3132+43_3132+46delinsAGGT (n.3132+43_3132+46delinsAGGT) n.3428+43_3428+46delinsAGGT | |
2 | g.71570787_71570789del | CA1706471 | DYSF | c.600+46_600+48del (n.600+46_600+48del) c.3174+46_3174+48del (n.3174+46_3174+48del) c.3228+46_3228+48del (n.3228+46_3228+48del) c.3177+46_3177+48del (n.3177+46_3177+48del) c.3225+46_3225+48del (n.3225+46_3225+48del) c.3270+46_3270+48del (n.3270+46_3270+48del) c.3135+46_3135+48del (n.3135+46_3135+48del) c.3267+46_3267+48del (n.3267+46_3267+48del) n.386_388del c.3132+46_3132+48del (n.3132+46_3132+48del) n.3428+46_3428+48del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71570786G>A | CA892700740 | DYSF | c.600+45G>A (n.600+45G>A) c.3174+45G>A (n.3174+45G>A) c.3228+45G>A (n.3228+45G>A) c.3177+45G>A (n.3177+45G>A) c.3225+45G>A (n.3225+45G>A) c.3270+45G>A (n.3270+45G>A) c.3135+45G>A (n.3135+45G>A) c.3267+45G>A (n.3267+45G>A) n.385G>A c.3132+45G>A (n.3132+45G>A) n.3428+45G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71570786G= | CA1260104182 | DYSF | c.600+45G= (n.600+45G=) c.3174+45G= (n.3174+45G=) c.3228+45G= (n.3228+45G=) c.3177+45G= (n.3177+45G=) c.3225+45G= (n.3225+45G=) c.3270+45G= (n.3270+45G=) c.3135+45G= (n.3135+45G=) c.3267+45G= (n.3267+45G=) n.385G= c.3132+45G= (n.3132+45G=) n.3428+45G= | |
2 | g.71570786G>T | CA2840543161 | DYSF | c.600+45G>T (n.600+45G>T) c.3174+45G>T (n.3174+45G>T) c.3228+45G>T (n.3228+45G>T) c.3177+45G>T (n.3177+45G>T) c.3225+45G>T (n.3225+45G>T) c.3270+45G>T (n.3270+45G>T) c.3135+45G>T (n.3135+45G>T) c.3267+45G>T (n.3267+45G>T) n.385G>T c.3132+45G>T (n.3132+45G>T) n.3428+45G>T | |
2 | g.71570788G>A | CA2659549656 | DYSF | c.600+47G>A (n.600+47G>A) c.3174+47G>A (n.3174+47G>A) c.3228+47G>A (n.3228+47G>A) c.3177+47G>A (n.3177+47G>A) c.3225+47G>A (n.3225+47G>A) c.3270+47G>A (n.3270+47G>A) c.3135+47G>A (n.3135+47G>A) c.3267+47G>A (n.3267+47G>A) n.387G>A c.3132+47G>A (n.3132+47G>A) n.3428+47G>A | gnomAD v4 |
2 | g.71570788G>T | CA2838706850 | DYSF | c.600+47G>T (n.600+47G>T) c.3174+47G>T (n.3174+47G>T) c.3228+47G>T (n.3228+47G>T) c.3177+47G>T (n.3177+47G>T) c.3225+47G>T (n.3225+47G>T) c.3270+47G>T (n.3270+47G>T) c.3135+47G>T (n.3135+47G>T) c.3267+47G>T (n.3267+47G>T) n.387G>T c.3132+47G>T (n.3132+47G>T) n.3428+47G>T |