Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.180614077_180614079del | CA257474 | FLT4 | c.3323_3325del (p.Phe1108del) n.2716_2718del c.*2266_*2268del (n.*2266_*2268del) c.3572_3574del (p.Phe1191del) c.3554_3556del (p.Phe1185del) c.3341_3343del (p.Phe1114del) c.3263_3265del (p.Phe1088del) c.2864_2866del (p.Phe955del) n.3584_3586del c.3245_3247del (p.Phe1082del) n.3788_3790del | ClinVar dbSNP gnomAD v4 |
5 | g.180614077A>C | CA362500132 | FLT4 | c.3322T>G (p.Phe1108Val) n.2715T>G n.689T>G c.*2265T>G (n.*2265T>G) c.3571T>G (p.Phe1191Val) c.3553T>G (p.Phe1185Val) c.3340T>G (p.Phe1114Val) c.3262T>G (p.Phe1088Val) c.2863T>G (p.Phe955Val) n.3583T>G c.3244T>G (p.Phe1082Val) n.3787T>G | |
5 | g.180614077A>G | CA362500131 | FLT4 | c.3322T>C (p.Phe1108Leu) n.2715T>C n.689T>C c.*2265T>C (n.*2265T>C) c.3571T>C (p.Phe1191Leu) c.3553T>C (p.Phe1185Leu) c.3340T>C (p.Phe1114Leu) c.3262T>C (p.Phe1088Leu) c.2863T>C (p.Phe955Leu) n.3583T>C c.3244T>C (p.Phe1082Leu) n.3787T>C | |
5 | g.180614077A>T | CA362500130 | FLT4 | c.3322T>A (p.Phe1108Ile) n.2715T>A n.689T>A c.*2265T>A (n.*2265T>A) c.3571T>A (p.Phe1191Ile) c.3553T>A (p.Phe1185Ile) c.3340T>A (p.Phe1114Ile) c.3262T>A (p.Phe1088Ile) c.2863T>A (p.Phe955Ile) n.3583T>A c.3244T>A (p.Phe1082Ile) n.3787T>A | |
5 | g.180614078G>A | CA3605897 | FLT4 | c.3321C>T (p.Ile1107=) n.2714C>T n.688C>T c.*2264C>T (n.*2264C>T) c.3570C>T (p.Ile1190=) c.3552C>T (p.Ile1184=) c.3339C>T (p.Ile1113=) c.3261C>T (p.Ile1087=) c.2862C>T (p.Ile954=) n.3582C>T c.3243C>T (p.Ile1081=) n.3786C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.180614078G>C | CA362500133 | FLT4 | c.3321C>G (p.Ile1107Met) n.2714C>G n.688C>G c.*2264C>G (n.*2264C>G) c.3570C>G (p.Ile1190Met) c.3552C>G (p.Ile1184Met) c.3339C>G (p.Ile1113Met) c.3261C>G (p.Ile1087Met) c.2862C>G (p.Ile954Met) n.3582C>G c.3243C>G (p.Ile1081Met) n.3786C>G | |
5 | g.180614078G= | CA1604720208 | FLT4 | c.3321C= (p.Ile1107=) n.2714C= n.688C= c.*2264C= (n.*2264C=) c.3570C= (p.Ile1190=) c.3552C= (p.Ile1184=) c.3339C= (p.Ile1113=) c.3261C= (p.Ile1087=) c.2862C= (p.Ile954=) n.3582C= c.3243C= (p.Ile1081=) n.3786C= | |
5 | g.180614078G>T | CA448102966 | FLT4 | c.3321C>A (p.Ile1107=) n.2714C>A n.688C>A c.*2264C>A (n.*2264C>A) c.3570C>A (p.Ile1190=) c.3552C>A (p.Ile1184=) c.3339C>A (p.Ile1113=) c.3261C>A (p.Ile1087=) c.2862C>A (p.Ile954=) n.3582C>A c.3243C>A (p.Ile1081=) n.3786C>A | dbSNP gnomAD v4 |
5 | g.180614079A>C | CA362500134 | FLT4 | c.3320T>G (p.Ile1107Ser) n.2713T>G n.687T>G c.*2263T>G (n.*2263T>G) c.3569T>G (p.Ile1190Ser) c.3551T>G (p.Ile1184Ser) c.3338T>G (p.Ile1113Ser) c.3260T>G (p.Ile1087Ser) c.2861T>G (p.Ile954Ser) n.3581T>G c.3242T>G (p.Ile1081Ser) n.3785T>G | |
5 | g.180614079A>G | CA362500135 | FLT4 | c.3320T>C (p.Ile1107Thr) n.2713T>C n.687T>C c.*2263T>C (n.*2263T>C) c.3569T>C (p.Ile1190Thr) c.3551T>C (p.Ile1184Thr) c.3338T>C (p.Ile1113Thr) c.3260T>C (p.Ile1087Thr) c.2861T>C (p.Ile954Thr) n.3581T>C c.3242T>C (p.Ile1081Thr) n.3785T>C | |
5 | g.180614079A>T | CA362500136 | FLT4 | c.3320T>A (p.Ile1107Asn) n.2713T>A n.687T>A c.*2263T>A (n.*2263T>A) c.3569T>A (p.Ile1190Asn) c.3551T>A (p.Ile1184Asn) c.3338T>A (p.Ile1113Asn) c.3260T>A (p.Ile1087Asn) c.2861T>A (p.Ile954Asn) n.3581T>A c.3242T>A (p.Ile1081Asn) n.3785T>A | |
5 | g.180614080T>A | CA362500137 | FLT4 | c.3319A>T (p.Ile1107Phe) n.2712A>T n.686A>T c.*2262A>T (n.*2262A>T) c.3568A>T (p.Ile1190Phe) c.3550A>T (p.Ile1184Phe) c.3337A>T (p.Ile1113Phe) c.3259A>T (p.Ile1087Phe) c.2860A>T (p.Ile954Phe) n.3580A>T c.3241A>T (p.Ile1081Phe) n.3784A>T | |
5 | g.180614080T>C | CA362500138 | FLT4 | c.3319A>G (p.Ile1107Val) n.2712A>G n.686A>G c.*2262A>G (n.*2262A>G) c.3568A>G (p.Ile1190Val) c.3550A>G (p.Ile1184Val) c.3337A>G (p.Ile1113Val) c.3259A>G (p.Ile1087Val) c.2860A>G (p.Ile954Val) n.3580A>G c.3241A>G (p.Ile1081Val) n.3784A>G | gnomAD v4 |
5 | g.180614080T>G | CA362500139 | FLT4 | c.3319A>C (p.Ile1107Leu) n.2712A>C n.686A>C c.*2262A>C (n.*2262A>C) c.3568A>C (p.Ile1190Leu) c.3550A>C (p.Ile1184Leu) c.3337A>C (p.Ile1113Leu) c.3259A>C (p.Ile1087Leu) c.2860A>C (p.Ile954Leu) n.3580A>C c.3241A>C (p.Ile1081Leu) n.3784A>C | |
5 | g.180614081C>A | CA133202974 | FLT4 | c.3318G>T (p.Glu1106Asp) n.2711G>T n.685G>T c.*2261G>T (n.*2261G>T) c.3567G>T (p.Glu1189Asp) c.3549G>T (p.Glu1183Asp) c.3336G>T (p.Glu1112Asp) c.3258G>T (p.Glu1086Asp) c.2859G>T (p.Glu953Asp) n.3579G>T c.3240G>T (p.Glu1080Asp) n.3783G>T | dbSNP |
5 | g.180614081C= | CA1604720213 | FLT4 | c.3318G= (p.Glu1106=) n.2711G= n.685G= c.*2261G= (n.*2261G=) c.3567G= (p.Glu1189=) c.3549G= (p.Glu1183=) c.3336G= (p.Glu1112=) c.3258G= (p.Glu1086=) c.2859G= (p.Glu953=) n.3579G= c.3240G= (p.Glu1080=) n.3783G= | |
5 | g.180614081C>G | CA362500140 | FLT4 | c.3318G>C (p.Glu1106Asp) n.2711G>C n.685G>C c.*2261G>C (n.*2261G>C) c.3567G>C (p.Glu1189Asp) c.3549G>C (p.Glu1183Asp) c.3336G>C (p.Glu1112Asp) c.3258G>C (p.Glu1086Asp) c.2859G>C (p.Glu953Asp) n.3579G>C c.3240G>C (p.Glu1080Asp) n.3783G>C | |
5 | g.180614081C>T | CA133202976 | FLT4 | c.3318G>A (p.Glu1106=) n.2711G>A n.685G>A c.*2261G>A (n.*2261G>A) c.3567G>A (p.Glu1189=) c.3549G>A (p.Glu1183=) c.3336G>A (p.Glu1112=) c.3258G>A (p.Glu1086=) c.2859G>A (p.Glu953=) n.3579G>A c.3240G>A (p.Glu1080=) n.3783G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.180614082T>A | CA362500141 | FLT4 | c.3317A>T (p.Glu1106Val) n.2710A>T n.684A>T c.*2260A>T (n.*2260A>T) c.3566A>T (p.Glu1189Val) c.3548A>T (p.Glu1183Val) c.3335A>T (p.Glu1112Val) c.3257A>T (p.Glu1086Val) c.2858A>T (p.Glu953Val) n.3578A>T c.3239A>T (p.Glu1080Val) n.3782A>T | |
5 | g.180614082T>C | CA362500142 | FLT4 | c.3317A>G (p.Glu1106Gly) n.2710A>G n.684A>G c.*2260A>G (n.*2260A>G) c.3566A>G (p.Glu1189Gly) c.3548A>G (p.Glu1183Gly) c.3335A>G (p.Glu1112Gly) c.3257A>G (p.Glu1086Gly) c.2858A>G (p.Glu953Gly) n.3578A>G c.3239A>G (p.Glu1080Gly) n.3782A>G | |
5 | g.180614082T>G | CA362500143 | FLT4 | c.3317A>C (p.Glu1106Ala) n.2710A>C n.684A>C c.*2260A>C (n.*2260A>C) c.3566A>C (p.Glu1189Ala) c.3548A>C (p.Glu1183Ala) c.3335A>C (p.Glu1112Ala) c.3257A>C (p.Glu1086Ala) c.2858A>C (p.Glu953Ala) n.3578A>C c.3239A>C (p.Glu1080Ala) n.3782A>C | |
5 | g.180614083C>A | CA362500145 | FLT4 | c.3316G>T (p.Glu1106Ter) n.2709G>T n.683G>T c.*2259G>T (n.*2259G>T) c.3565G>T (p.Glu1189Ter) c.3547G>T (p.Glu1183Ter) c.3334G>T (p.Glu1112Ter) c.3256G>T (p.Glu1086Ter) c.2857G>T (p.Glu953Ter) n.3577G>T c.3238G>T (p.Glu1080Ter) n.3781G>T | |
5 | g.180614083C= | CA1604720220 | FLT4 | c.3316G= (p.Glu1106=) n.2709G= n.683G= c.*2259G= (n.*2259G=) c.3565G= (p.Glu1189=) c.3547G= (p.Glu1183=) c.3334G= (p.Glu1112=) c.3256G= (p.Glu1086=) c.2857G= (p.Glu953=) n.3577G= c.3238G= (p.Glu1080=) n.3781G= | |
5 | g.180614083C>G | CA362500144 | FLT4 | c.3316G>C (p.Glu1106Gln) n.2709G>C n.683G>C c.*2259G>C (n.*2259G>C) c.3565G>C (p.Glu1189Gln) c.3547G>C (p.Glu1183Gln) c.3334G>C (p.Glu1112Gln) c.3256G>C (p.Glu1086Gln) c.2857G>C (p.Glu953Gln) n.3577G>C c.3238G>C (p.Glu1080Gln) n.3781G>C | |
5 | g.180614083C>T | CA257472 | FLT4 | c.3316G>A (p.Glu1106Lys) n.2709G>A n.683G>A c.*2259G>A (n.*2259G>A) c.3565G>A (p.Glu1189Lys) c.3547G>A (p.Glu1183Lys) c.3334G>A (p.Glu1112Lys) c.3256G>A (p.Glu1086Lys) c.2857G>A (p.Glu953Lys) n.3577G>A c.3238G>A (p.Glu1080Lys) n.3781G>A | ClinVar dbSNP |
5 | g.180614084C>A | CA362500148 | FLT4 | c.3315G>T (p.Trp1105Cys) n.2708G>T n.682G>T c.*2258G>T (n.*2258G>T) c.3564G>T (p.Trp1188Cys) c.3546G>T (p.Trp1182Cys) c.3333G>T (p.Trp1111Cys) c.3255G>T (p.Trp1085Cys) c.2856G>T (p.Trp952Cys) n.3576G>T c.3237G>T (p.Trp1079Cys) n.3780G>T | |
5 | g.180614084C>G | CA362500146 | FLT4 | c.3315G>C (p.Trp1105Cys) n.2708G>C n.682G>C c.*2258G>C (n.*2258G>C) c.3564G>C (p.Trp1188Cys) c.3546G>C (p.Trp1182Cys) c.3333G>C (p.Trp1111Cys) c.3255G>C (p.Trp1085Cys) c.2856G>C (p.Trp952Cys) n.3576G>C c.3237G>C (p.Trp1079Cys) n.3780G>C | |
5 | g.180614084C>T | CA362500147 | FLT4 | c.3315G>A (p.Trp1105Ter) n.2708G>A n.682G>A c.*2258G>A (n.*2258G>A) c.3564G>A (p.Trp1188Ter) c.3546G>A (p.Trp1182Ter) c.3333G>A (p.Trp1111Ter) c.3255G>A (p.Trp1085Ter) c.2856G>A (p.Trp952Ter) n.3576G>A c.3237G>A (p.Trp1079Ter) n.3780G>A | |
5 | g.180614085C>A | CA362500149 | FLT4 | c.3314G>T (p.Trp1105Leu) n.2707G>T n.681G>T c.*2257G>T (n.*2257G>T) c.3563G>T (p.Trp1188Leu) c.3545G>T (p.Trp1182Leu) c.3332G>T (p.Trp1111Leu) c.3254G>T (p.Trp1085Leu) c.2855G>T (p.Trp952Leu) n.3575G>T c.3236G>T (p.Trp1079Leu) n.3779G>T | |
5 | g.180614085C>G | CA362500150 | FLT4 | c.3314G>C (p.Trp1105Ser) n.2707G>C n.681G>C c.*2257G>C (n.*2257G>C) c.3563G>C (p.Trp1188Ser) c.3545G>C (p.Trp1182Ser) c.3332G>C (p.Trp1111Ser) c.3254G>C (p.Trp1085Ser) c.2855G>C (p.Trp952Ser) n.3575G>C c.3236G>C (p.Trp1079Ser) n.3779G>C | |
5 | g.180614085C>T | CA362500151 | FLT4 | c.3314G>A (p.Trp1105Ter) n.2707G>A n.681G>A c.*2257G>A (n.*2257G>A) c.3563G>A (p.Trp1188Ter) c.3545G>A (p.Trp1182Ter) c.3332G>A (p.Trp1111Ter) c.3254G>A (p.Trp1085Ter) c.2855G>A (p.Trp952Ter) n.3575G>A c.3236G>A (p.Trp1079Ter) n.3779G>A | |
5 | g.180614086A>C | CA362500154 | FLT4 | c.3313T>G (p.Trp1105Gly) n.2706T>G c.427T>G n.680T>G c.*2256T>G (n.*2256T>G) c.3562T>G (p.Trp1188Gly) c.3544T>G (p.Trp1182Gly) c.3331T>G (p.Trp1111Gly) c.3253T>G (p.Trp1085Gly) c.2854T>G (p.Trp952Gly) n.3574T>G c.3235T>G (p.Trp1079Gly) n.3778T>G | |
5 | g.180614086A>G | CA362500153 | FLT4 | c.3313T>C (p.Trp1105Arg) n.2706T>C c.427T>C n.680T>C c.*2256T>C (n.*2256T>C) c.3562T>C (p.Trp1188Arg) c.3544T>C (p.Trp1182Arg) c.3331T>C (p.Trp1111Arg) c.3253T>C (p.Trp1085Arg) c.2854T>C (p.Trp952Arg) n.3574T>C c.3235T>C (p.Trp1079Arg) n.3778T>C | |
5 | g.180614086A>T | CA362500152 | FLT4 | c.3313T>A (p.Trp1105Arg) n.2706T>A c.427T>A n.680T>A c.*2256T>A (n.*2256T>A) c.3562T>A (p.Trp1188Arg) c.3544T>A (p.Trp1182Arg) c.3331T>A (p.Trp1111Arg) c.3253T>A (p.Trp1085Arg) c.2854T>A (p.Trp952Arg) n.3574T>A c.3235T>A (p.Trp1079Arg) n.3778T>A | |
5 | g.180614087G>A | CA448102983 | FLT4 | c.3312C>T (p.Leu1104=) n.2705C>T c.426C>T (p.Leu142=) n.679C>T c.*2255C>T (n.*2255C>T) c.3561C>T (p.Leu1187=) c.3543C>T (p.Leu1181=) c.3330C>T (p.Leu1110=) c.3252C>T (p.Leu1084=) c.2853C>T (p.Leu951=) n.3573C>T c.3234C>T (p.Leu1078=) n.3777C>T | COSMIC COSMIC |
5 | g.180614087G>C | CA448102984 | FLT4 | c.3312C>G (p.Leu1104=) n.2705C>G c.426C>G (p.Leu142=) n.679C>G c.*2255C>G (n.*2255C>G) c.3561C>G (p.Leu1187=) c.3543C>G (p.Leu1181=) c.3330C>G (p.Leu1110=) c.3252C>G (p.Leu1084=) c.2853C>G (p.Leu951=) n.3573C>G c.3234C>G (p.Leu1078=) n.3777C>G | gnomAD v4 |
5 | g.180614087G>T | CA448102985 | FLT4 | c.3312C>A (p.Leu1104=) n.2705C>A c.426C>A (p.Leu142=) n.679C>A c.*2255C>A (n.*2255C>A) c.3561C>A (p.Leu1187=) c.3543C>A (p.Leu1181=) c.3330C>A (p.Leu1110=) c.3252C>A (p.Leu1084=) c.2853C>A (p.Leu951=) n.3573C>A c.3234C>A (p.Leu1078=) n.3777C>A | |
5 | g.180614088A>C | CA362500155 | FLT4 | c.3311T>G (p.Leu1104Arg) n.2704T>G c.425T>G (p.Leu142Arg) n.678T>G c.*2254T>G (n.*2254T>G) c.3560T>G (p.Leu1187Arg) c.3542T>G (p.Leu1181Arg) c.3329T>G (p.Leu1110Arg) c.3251T>G (p.Leu1084Arg) c.2852T>G (p.Leu951Arg) n.3572T>G c.3233T>G (p.Leu1078Arg) n.3776T>G | |
5 | g.180614088A>G | CA362500156 | FLT4 | c.3311T>C (p.Leu1104Pro) n.2704T>C c.425T>C (p.Leu142Pro) n.678T>C c.*2254T>C (n.*2254T>C) c.3560T>C (p.Leu1187Pro) c.3542T>C (p.Leu1181Pro) c.3329T>C (p.Leu1110Pro) c.3251T>C (p.Leu1084Pro) c.2852T>C (p.Leu951Pro) n.3572T>C c.3233T>C (p.Leu1078Pro) n.3776T>C | |
5 | g.180614088A>T | CA362500157 | FLT4 | c.3311T>A (p.Leu1104His) n.2704T>A c.425T>A (p.Leu142His) n.678T>A c.*2254T>A (n.*2254T>A) c.3560T>A (p.Leu1187His) c.3542T>A (p.Leu1181His) c.3329T>A (p.Leu1110His) c.3251T>A (p.Leu1084His) c.2852T>A (p.Leu951His) n.3572T>A c.3233T>A (p.Leu1078His) n.3776T>A | |
5 | g.180614089G>A | CA362500158 | FLT4 | c.3310C>T (p.Leu1104Phe) n.2703C>T c.424C>T (p.Leu142Phe) n.677C>T c.*2253C>T (n.*2253C>T) c.3559C>T (p.Leu1187Phe) c.3541C>T (p.Leu1181Phe) c.3328C>T (p.Leu1110Phe) c.3250C>T (p.Leu1084Phe) c.2851C>T (p.Leu951Phe) n.3571C>T c.3232C>T (p.Leu1078Phe) n.3775C>T | |
5 | g.180614089G>C | CA362500159 | FLT4 | c.3310C>G (p.Leu1104Val) n.2703C>G c.424C>G (p.Leu142Val) n.677C>G c.*2253C>G (n.*2253C>G) c.3559C>G (p.Leu1187Val) c.3541C>G (p.Leu1181Val) c.3328C>G (p.Leu1110Val) c.3250C>G (p.Leu1084Val) c.2851C>G (p.Leu951Val) n.3571C>G c.3232C>G (p.Leu1078Val) n.3775C>G | |
5 | g.180614089G>T | CA362500160 | FLT4 | c.3310C>A (p.Leu1104Ile) n.2703C>A c.424C>A (p.Leu142Ile) n.677C>A c.*2253C>A (n.*2253C>A) c.3559C>A (p.Leu1187Ile) c.3541C>A (p.Leu1181Ile) c.3328C>A (p.Leu1110Ile) c.3250C>A (p.Leu1084Ile) c.2851C>A (p.Leu951Ile) n.3571C>A c.3232C>A (p.Leu1078Ile) n.3775C>A | |
5 | g.180614090A>C | CA448102991 | FLT4 | c.3309T>G (p.Leu1103=) n.2702T>G c.423T>G (p.Leu141=) n.676T>G c.*2252T>G (n.*2252T>G) c.3558T>G (p.Leu1186=) c.3540T>G (p.Leu1180=) c.3327T>G (p.Leu1109=) c.3249T>G (p.Leu1083=) c.2850T>G (p.Leu950=) n.3570T>G c.3231T>G (p.Leu1077=) n.3774T>G | |
5 | g.180614090A>G | CA448102993 | FLT4 | c.3309T>C (p.Leu1103=) n.2702T>C c.423T>C (p.Leu141=) n.676T>C c.*2252T>C (n.*2252T>C) c.3558T>C (p.Leu1186=) c.3540T>C (p.Leu1180=) c.3327T>C (p.Leu1109=) c.3249T>C (p.Leu1083=) c.2850T>C (p.Leu950=) n.3570T>C c.3231T>C (p.Leu1077=) n.3774T>C | |
5 | g.180614090A>T | CA448102995 | FLT4 | c.3309T>A (p.Leu1103=) n.2702T>A c.423T>A (p.Leu141=) n.676T>A c.*2252T>A (n.*2252T>A) c.3558T>A (p.Leu1186=) c.3540T>A (p.Leu1180=) c.3327T>A (p.Leu1109=) c.3249T>A (p.Leu1083=) c.2850T>A (p.Leu950=) n.3570T>A c.3231T>A (p.Leu1077=) n.3774T>A | |
5 | g.180614091A>C | CA362500161 | FLT4 | c.3308T>G (p.Leu1103Arg) n.2701T>G c.422T>G (p.Leu141Arg) n.675T>G c.*2251T>G (n.*2251T>G) c.3557T>G (p.Leu1186Arg) c.3539T>G (p.Leu1180Arg) c.3326T>G (p.Leu1109Arg) c.3248T>G (p.Leu1083Arg) c.2849T>G (p.Leu950Arg) n.3569T>G c.3230T>G (p.Leu1077Arg) n.3773T>G | |
5 | g.180614091A>G | CA362500163 | FLT4 | c.3308T>C (p.Leu1103Pro) n.2701T>C c.422T>C (p.Leu141Pro) n.675T>C c.*2251T>C (n.*2251T>C) c.3557T>C (p.Leu1186Pro) c.3539T>C (p.Leu1180Pro) c.3326T>C (p.Leu1109Pro) c.3248T>C (p.Leu1083Pro) c.2849T>C (p.Leu950Pro) n.3569T>C c.3230T>C (p.Leu1077Pro) n.3773T>C | |
5 | g.180614091A>T | CA362500162 | FLT4 | c.3308T>A (p.Leu1103His) n.2701T>A c.422T>A (p.Leu141His) n.675T>A c.*2251T>A (n.*2251T>A) c.3557T>A (p.Leu1186His) c.3539T>A (p.Leu1180His) c.3326T>A (p.Leu1109His) c.3248T>A (p.Leu1083His) c.2849T>A (p.Leu950His) n.3569T>A c.3230T>A (p.Leu1077His) n.3773T>A | |
5 | g.180614092G>A | CA362500164 | FLT4 | c.3307C>T (p.Leu1103Phe) n.2700C>T c.421C>T (p.Leu141Phe) n.674C>T c.*2250C>T (n.*2250C>T) c.3556C>T (p.Leu1186Phe) c.3538C>T (p.Leu1180Phe) c.3325C>T (p.Leu1109Phe) c.3247C>T (p.Leu1083Phe) c.2848C>T (p.Leu950Phe) n.3568C>T c.3229C>T (p.Leu1077Phe) n.3772C>T |