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.71570617C>A | CA347216927 | DYSF | c.476C>A (p.Thr159Asn) c.3050C>A (p.Thr1017Asn) c.3104C>A (p.Thr1035Asn) c.3053C>A (p.Thr1018Asn) c.3101C>A (p.Thr1034Asn) c.3146C>A (p.Thr1049Asn) c.3011C>A (p.Thr1004Asn) c.3143C>A (p.Thr1048Asn) n.216C>A c.3008C>A (p.Thr1003Asn) n.3304C>A | |
2 | g.71570617C= | CA1260104075 | DYSF | c.476C= (p.Thr159=) c.3050C= (p.Thr1017=) c.3104C= (p.Thr1035=) c.3053C= (p.Thr1018=) c.3101C= (p.Thr1034=) c.3146C= (p.Thr1049=) c.3011C= (p.Thr1004=) c.3143C= (p.Thr1048=) n.216C= c.3008C= (p.Thr1003=) n.3304C= | |
2 | g.71570617C>G | CA347216928 | DYSF | c.476C>G (p.Thr159Ser) c.3050C>G (p.Thr1017Ser) c.3104C>G (p.Thr1035Ser) c.3053C>G (p.Thr1018Ser) c.3101C>G (p.Thr1034Ser) c.3146C>G (p.Thr1049Ser) c.3011C>G (p.Thr1004Ser) c.3143C>G (p.Thr1048Ser) n.216C>G c.3008C>G (p.Thr1003Ser) n.3304C>G | dbSNP |
2 | g.71570617C>T | CA347216929 | DYSF | c.476C>T (p.Thr159Ile) c.3050C>T (p.Thr1017Ile) c.3104C>T (p.Thr1035Ile) c.3053C>T (p.Thr1018Ile) c.3101C>T (p.Thr1034Ile) c.3146C>T (p.Thr1049Ile) c.3011C>T (p.Thr1004Ile) c.3143C>T (p.Thr1048Ile) n.216C>T c.3008C>T (p.Thr1003Ile) n.3304C>T | |
2 | g.71570618dup | CA1706424 | DYSF | c.477dup (p.Ile160HisfsTer14) c.3051dup (p.Ile1018HisfsTer14) c.3105dup (p.Ile1036HisfsTer14) c.3054dup (p.Ile1019HisfsTer14) c.3102dup (p.Ile1035HisfsTer14) c.3147dup (p.Ile1050HisfsTer14) c.3012dup (p.Ile1005HisfsTer14) c.3144dup (p.Ile1049HisfsTer14) n.217dup c.3009dup (p.Ile1004HisfsTer14) n.3305dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570618C>A | CA426702050 | DYSF | c.477C>A (p.Thr159=) c.3051C>A (p.Thr1017=) c.3105C>A (p.Thr1035=) c.3054C>A (p.Thr1018=) c.3102C>A (p.Thr1034=) c.3147C>A (p.Thr1049=) c.3012C>A (p.Thr1004=) c.3144C>A (p.Thr1048=) n.217C>A c.3009C>A (p.Thr1003=) n.3305C>A | |
2 | g.71570618C= | CA1260104076 | DYSF | c.477C= (p.Thr159=) c.3051C= (p.Thr1017=) c.3105C= (p.Thr1035=) c.3054C= (p.Thr1018=) c.3102C= (p.Thr1034=) c.3147C= (p.Thr1049=) c.3012C= (p.Thr1004=) c.3144C= (p.Thr1048=) n.217C= c.3009C= (p.Thr1003=) n.3305C= | |
2 | g.71570618C>G | CA426702049 | DYSF | c.477C>G (p.Thr159=) c.3051C>G (p.Thr1017=) c.3105C>G (p.Thr1035=) c.3054C>G (p.Thr1018=) c.3102C>G (p.Thr1034=) c.3147C>G (p.Thr1049=) c.3012C>G (p.Thr1004=) c.3144C>G (p.Thr1048=) n.217C>G c.3009C>G (p.Thr1003=) n.3305C>G | |
2 | g.71570618C>T | CA1706425 | DYSF | c.477C>T (p.Thr159=) c.3051C>T (p.Thr1017=) c.3105C>T (p.Thr1035=) c.3054C>T (p.Thr1018=) c.3102C>T (p.Thr1034=) c.3147C>T (p.Thr1049=) c.3012C>T (p.Thr1004=) c.3144C>T (p.Thr1048=) n.217C>T c.3009C>T (p.Thr1003=) n.3305C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570619A= | CA1260104077 | DYSF | c.478A= (p.Ile160=) c.3052A= (p.Ile1018=) c.3106A= (p.Ile1036=) c.3055A= (p.Ile1019=) c.3103A= (p.Ile1035=) c.3148A= (p.Ile1050=) c.3013A= (p.Ile1005=) c.3145A= (p.Ile1049=) n.218A= c.3010A= (p.Ile1004=) n.3306A= | |
2 | g.71570619A>C | CA347216930 | DYSF | c.478A>C (p.Ile160Leu) c.3052A>C (p.Ile1018Leu) c.3106A>C (p.Ile1036Leu) c.3055A>C (p.Ile1019Leu) c.3103A>C (p.Ile1035Leu) c.3148A>C (p.Ile1050Leu) c.3013A>C (p.Ile1005Leu) c.3145A>C (p.Ile1049Leu) n.218A>C c.3010A>C (p.Ile1004Leu) n.3306A>C | |
2 | g.71570619A>G | CA347216932 | DYSF | c.478A>G (p.Ile160Val) c.3052A>G (p.Ile1018Val) c.3106A>G (p.Ile1036Val) c.3055A>G (p.Ile1019Val) c.3103A>G (p.Ile1035Val) c.3148A>G (p.Ile1050Val) c.3013A>G (p.Ile1005Val) c.3145A>G (p.Ile1049Val) n.218A>G c.3010A>G (p.Ile1004Val) n.3306A>G | |
2 | g.71570619A>T | CA347216931 | DYSF | c.478A>T (p.Ile160Phe) c.3052A>T (p.Ile1018Phe) c.3106A>T (p.Ile1036Phe) c.3055A>T (p.Ile1019Phe) c.3103A>T (p.Ile1035Phe) c.3148A>T (p.Ile1050Phe) c.3013A>T (p.Ile1005Phe) c.3145A>T (p.Ile1049Phe) n.218A>T c.3010A>T (p.Ile1004Phe) n.3306A>T | gnomAD v4 |
2 | g.71570620del | CA2580067855 | DYSF | c.479del (p.Ile160ThrfsTer?) c.3053del (p.Ile1018ThrfsTer?) c.3107del (p.Ile1036ThrfsTer?) c.3056del (p.Ile1019ThrfsTer?) c.3104del (p.Ile1035ThrfsTer?) c.3149del (p.Ile1050ThrfsTer?) c.3014del (p.Ile1005ThrfsTer?) c.3146del (p.Ile1049ThrfsTer?) n.219del c.3011del (p.Ile1004ThrfsTer?) n.3307del | ClinVar |
2 | g.71570620T>A | CA347216933 | DYSF | c.479T>A (p.Ile160Asn) c.3053T>A (p.Ile1018Asn) c.3107T>A (p.Ile1036Asn) c.3056T>A (p.Ile1019Asn) c.3104T>A (p.Ile1035Asn) c.3149T>A (p.Ile1050Asn) c.3014T>A (p.Ile1005Asn) c.3146T>A (p.Ile1049Asn) n.219T>A c.3011T>A (p.Ile1004Asn) n.3307T>A | dbSNP |
2 | g.71570620T>C | CA347216934 | DYSF | c.479T>C (p.Ile160Thr) c.3053T>C (p.Ile1018Thr) c.3107T>C (p.Ile1036Thr) c.3056T>C (p.Ile1019Thr) c.3104T>C (p.Ile1035Thr) c.3149T>C (p.Ile1050Thr) c.3014T>C (p.Ile1005Thr) c.3146T>C (p.Ile1049Thr) n.219T>C c.3011T>C (p.Ile1004Thr) n.3307T>C | dbSNP |
2 | g.71570620T>G | CA347216935 | DYSF | c.479T>G (p.Ile160Ser) c.3053T>G (p.Ile1018Ser) c.3107T>G (p.Ile1036Ser) c.3056T>G (p.Ile1019Ser) c.3104T>G (p.Ile1035Ser) c.3149T>G (p.Ile1050Ser) c.3014T>G (p.Ile1005Ser) c.3146T>G (p.Ile1049Ser) n.219T>G c.3011T>G (p.Ile1004Ser) n.3307T>G | |
2 | g.71570620T= | CA1260104079 | DYSF | c.479T= (p.Ile160=) c.3053T= (p.Ile1018=) c.3107T= (p.Ile1036=) c.3056T= (p.Ile1019=) c.3104T= (p.Ile1035=) c.3149T= (p.Ile1050=) c.3014T= (p.Ile1005=) c.3146T= (p.Ile1049=) n.219T= c.3011T= (p.Ile1004=) n.3307T= | |
2 | g.71570620dup | CA1706426 | DYSF | c.479dup (p.Glu163GlyfsTer11) c.3053dup (p.Glu1021GlyfsTer11) c.3107dup (p.Glu1039GlyfsTer11) c.3056dup (p.Glu1022GlyfsTer11) c.3104dup (p.Glu1038GlyfsTer11) c.3149dup (p.Glu1053GlyfsTer11) c.3014dup (p.Glu1008GlyfsTer11) c.3146dup (p.Glu1052GlyfsTer11) n.219dup c.3011dup (p.Glu1007GlyfsTer11) n.3307dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570620_71570621delinsTC | CA1260104078 | DYSF | c.479_480delinsTC (p.Ile160=) c.3053_3054delinsTC (p.Ile1018=) c.3107_3108delinsTC (p.Ile1036=) c.3056_3057delinsTC (p.Ile1019=) c.3104_3105delinsTC (p.Ile1035=) c.3149_3150delinsTC (p.Ile1050=) c.3014_3015delinsTC (p.Ile1005=) c.3146_3147delinsTC (p.Ile1049=) n.219_220delinsTC c.3011_3012delinsTC (p.Ile1004=) n.3307_3308delinsTC | |
2 | g.71570621C>A | CA426702051 | DYSF | c.480C>A (p.Ile160=) c.3054C>A (p.Ile1018=) c.3108C>A (p.Ile1036=) c.3057C>A (p.Ile1019=) c.3105C>A (p.Ile1035=) c.3150C>A (p.Ile1050=) c.3015C>A (p.Ile1005=) c.3147C>A (p.Ile1049=) n.220C>A c.3012C>A (p.Ile1004=) n.3308C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570621C= | CA1260104080 | DYSF | c.480C= (p.Ile160=) c.3054C= (p.Ile1018=) c.3108C= (p.Ile1036=) c.3057C= (p.Ile1019=) c.3105C= (p.Ile1035=) c.3150C= (p.Ile1050=) c.3015C= (p.Ile1005=) c.3147C= (p.Ile1049=) n.220C= c.3012C= (p.Ile1004=) n.3308C= | |
2 | g.71570621C>G | CA1706428 | DYSF | c.480C>G (p.Ile160Met) c.3054C>G (p.Ile1018Met) c.3108C>G (p.Ile1036Met) c.3057C>G (p.Ile1019Met) c.3105C>G (p.Ile1035Met) c.3150C>G (p.Ile1050Met) c.3015C>G (p.Ile1005Met) c.3147C>G (p.Ile1049Met) n.220C>G c.3012C>G (p.Ile1004Met) n.3308C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570621C>T | CA49746655 | DYSF | c.480C>T (p.Ile160=) c.3054C>T (p.Ile1018=) c.3108C>T (p.Ile1036=) c.3057C>T (p.Ile1019=) c.3105C>T (p.Ile1035=) c.3150C>T (p.Ile1050=) c.3015C>T (p.Ile1005=) c.3147C>T (p.Ile1049=) n.220C>T c.3012C>T (p.Ile1004=) n.3308C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71570626dup | CA1706427 | DYSF | c.485dup (p.Glu163GlyfsTer11) c.3059dup (p.Glu1021GlyfsTer11) c.3113dup (p.Glu1039GlyfsTer11) c.3062dup (p.Glu1022GlyfsTer11) c.3110dup (p.Glu1038GlyfsTer11) c.3155dup (p.Glu1053GlyfsTer11) c.3020dup (p.Glu1008GlyfsTer11) c.3152dup (p.Glu1052GlyfsTer11) n.225dup c.3017dup (p.Glu1007GlyfsTer11) n.3313dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.71570626del | CA426702052 | DYSF | c.485del (p.Pro162ArgfsTer?) c.3059del (p.Pro1020ArgfsTer?) c.3113del (p.Pro1038ArgfsTer?) c.3062del (p.Pro1021ArgfsTer?) c.3110del (p.Pro1037ArgfsTer?) c.3155del (p.Pro1052ArgfsTer?) c.3020del (p.Pro1007ArgfsTer?) c.3152del (p.Pro1051ArgfsTer?) n.225del c.3017del (p.Pro1006ArgfsTer?) n.3313del | ClinVar dbSNP COSMIC COSMIC |
2 | g.71570622C>A | CA49746662 | DYSF | c.481C>A (p.Pro161Thr) c.3055C>A (p.Pro1019Thr) c.3109C>A (p.Pro1037Thr) c.3058C>A (p.Pro1020Thr) c.3106C>A (p.Pro1036Thr) c.3151C>A (p.Pro1051Thr) c.3016C>A (p.Pro1006Thr) c.3148C>A (p.Pro1050Thr) n.221C>A c.3013C>A (p.Pro1005Thr) n.3309C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71570622C= | CA1260104081 | DYSF | c.481C= (p.Pro161=) c.3055C= (p.Pro1019=) c.3109C= (p.Pro1037=) c.3058C= (p.Pro1020=) c.3106C= (p.Pro1036=) c.3151C= (p.Pro1051=) c.3016C= (p.Pro1006=) c.3148C= (p.Pro1050=) n.221C= c.3013C= (p.Pro1005=) n.3309C= | |
2 | g.71570622C>G | CA347216936 | DYSF | c.481C>G (p.Pro161Ala) c.3055C>G (p.Pro1019Ala) c.3109C>G (p.Pro1037Ala) c.3058C>G (p.Pro1020Ala) c.3106C>G (p.Pro1036Ala) c.3151C>G (p.Pro1051Ala) c.3016C>G (p.Pro1006Ala) c.3148C>G (p.Pro1050Ala) n.221C>G c.3013C>G (p.Pro1005Ala) n.3309C>G | |
2 | g.71570622C>T | CA347216937 | DYSF | c.481C>T (p.Pro161Ser) c.3055C>T (p.Pro1019Ser) c.3109C>T (p.Pro1037Ser) c.3058C>T (p.Pro1020Ser) c.3106C>T (p.Pro1036Ser) c.3151C>T (p.Pro1051Ser) c.3016C>T (p.Pro1006Ser) c.3148C>T (p.Pro1050Ser) n.221C>T c.3013C>T (p.Pro1005Ser) n.3309C>T | dbSNP gnomAD v4 |
2 | g.71570623C>A | CA347216938 | DYSF | c.482C>A (p.Pro161His) c.3056C>A (p.Pro1019His) c.3110C>A (p.Pro1037His) c.3059C>A (p.Pro1020His) c.3107C>A (p.Pro1036His) c.3152C>A (p.Pro1051His) c.3017C>A (p.Pro1006His) c.3149C>A (p.Pro1050His) n.222C>A c.3014C>A (p.Pro1005His) n.3310C>A | gnomAD v4 |
2 | g.71570623C= | CA1260104082 | DYSF | c.482C= (p.Pro161=) c.3056C= (p.Pro1019=) c.3110C= (p.Pro1037=) c.3059C= (p.Pro1020=) c.3107C= (p.Pro1036=) c.3152C= (p.Pro1051=) c.3017C= (p.Pro1006=) c.3149C= (p.Pro1050=) n.222C= c.3014C= (p.Pro1005=) n.3310C= | |
2 | g.71570623C>G | CA347216939 | DYSF | c.482C>G (p.Pro161Arg) c.3056C>G (p.Pro1019Arg) c.3110C>G (p.Pro1037Arg) c.3059C>G (p.Pro1020Arg) c.3107C>G (p.Pro1036Arg) c.3152C>G (p.Pro1051Arg) c.3017C>G (p.Pro1006Arg) c.3149C>G (p.Pro1050Arg) n.222C>G c.3014C>G (p.Pro1005Arg) n.3310C>G | |
2 | g.71570623C>T | CA1706429 | DYSF | c.482C>T (p.Pro161Leu) c.3056C>T (p.Pro1019Leu) c.3110C>T (p.Pro1037Leu) c.3059C>T (p.Pro1020Leu) c.3107C>T (p.Pro1036Leu) c.3152C>T (p.Pro1051Leu) c.3017C>T (p.Pro1006Leu) c.3149C>T (p.Pro1050Leu) n.222C>T c.3014C>T (p.Pro1005Leu) n.3310C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.71570624C>A | CA426702053 | DYSF | c.483C>A (p.Pro161=) c.3057C>A (p.Pro1019=) c.3111C>A (p.Pro1037=) c.3060C>A (p.Pro1020=) c.3108C>A (p.Pro1036=) c.3153C>A (p.Pro1051=) c.3018C>A (p.Pro1006=) c.3150C>A (p.Pro1050=) n.223C>A c.3015C>A (p.Pro1005=) n.3311C>A | |
2 | g.71570624C= | CA1260104083 | DYSF | c.483C= (p.Pro161=) c.3057C= (p.Pro1019=) c.3111C= (p.Pro1037=) c.3060C= (p.Pro1020=) c.3108C= (p.Pro1036=) c.3153C= (p.Pro1051=) c.3018C= (p.Pro1006=) c.3150C= (p.Pro1050=) n.223C= c.3015C= (p.Pro1005=) n.3311C= | |
2 | g.71570624C>G | CA426702054 | DYSF | c.483C>G (p.Pro161=) c.3057C>G (p.Pro1019=) c.3111C>G (p.Pro1037=) c.3060C>G (p.Pro1020=) c.3108C>G (p.Pro1036=) c.3153C>G (p.Pro1051=) c.3018C>G (p.Pro1006=) c.3150C>G (p.Pro1050=) n.223C>G c.3015C>G (p.Pro1005=) n.3311C>G | gnomAD v4 |
2 | g.71570624C>T | CA1706430 | DYSF | c.483C>T (p.Pro161=) c.3057C>T (p.Pro1019=) c.3111C>T (p.Pro1037=) c.3060C>T (p.Pro1020=) c.3108C>T (p.Pro1036=) c.3153C>T (p.Pro1051=) c.3018C>T (p.Pro1006=) c.3150C>T (p.Pro1050=) n.223C>T c.3015C>T (p.Pro1005=) n.3311C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570625C>A | CA347216940 | DYSF | c.484C>A (p.Pro162Thr) c.3058C>A (p.Pro1020Thr) c.3112C>A (p.Pro1038Thr) c.3061C>A (p.Pro1021Thr) c.3109C>A (p.Pro1037Thr) c.3154C>A (p.Pro1052Thr) c.3019C>A (p.Pro1007Thr) c.3151C>A (p.Pro1051Thr) n.224C>A c.3016C>A (p.Pro1006Thr) n.3312C>A | |
2 | g.71570625C= | CA1260104084 | DYSF | c.484C= (p.Pro162=) c.3058C= (p.Pro1020=) c.3112C= (p.Pro1038=) c.3061C= (p.Pro1021=) c.3109C= (p.Pro1037=) c.3154C= (p.Pro1052=) c.3019C= (p.Pro1007=) c.3151C= (p.Pro1051=) n.224C= c.3016C= (p.Pro1006=) n.3312C= | |
2 | g.71570625C>G | CA347216941 | DYSF | c.484C>G (p.Pro162Ala) c.3058C>G (p.Pro1020Ala) c.3112C>G (p.Pro1038Ala) c.3061C>G (p.Pro1021Ala) c.3109C>G (p.Pro1037Ala) c.3154C>G (p.Pro1052Ala) c.3019C>G (p.Pro1007Ala) c.3151C>G (p.Pro1051Ala) n.224C>G c.3016C>G (p.Pro1006Ala) n.3312C>G | dbSNP gnomAD v4 |
2 | g.71570625C>T | CA1706431 | DYSF | c.484C>T (p.Pro162Ser) c.3058C>T (p.Pro1020Ser) c.3112C>T (p.Pro1038Ser) c.3061C>T (p.Pro1021Ser) c.3109C>T (p.Pro1037Ser) c.3154C>T (p.Pro1052Ser) c.3019C>T (p.Pro1007Ser) c.3151C>T (p.Pro1051Ser) n.224C>T c.3016C>T (p.Pro1006Ser) n.3312C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570626C>A | CA347216942 | DYSF | c.485C>A (p.Pro162Gln) c.3059C>A (p.Pro1020Gln) c.3113C>A (p.Pro1038Gln) c.3062C>A (p.Pro1021Gln) c.3110C>A (p.Pro1037Gln) c.3155C>A (p.Pro1052Gln) c.3020C>A (p.Pro1007Gln) c.3152C>A (p.Pro1051Gln) n.225C>A c.3017C>A (p.Pro1006Gln) n.3313C>A | ClinVar dbSNP gnomAD v4 |
2 | g.71570626C= | CA1260104085 | DYSF | c.485C= (p.Pro162=) c.3059C= (p.Pro1020=) c.3113C= (p.Pro1038=) c.3062C= (p.Pro1021=) c.3110C= (p.Pro1037=) c.3155C= (p.Pro1052=) c.3020C= (p.Pro1007=) c.3152C= (p.Pro1051=) n.225C= c.3017C= (p.Pro1006=) n.3313C= | |
2 | g.71570626C>G | CA347216943 | DYSF | c.485C>G (p.Pro162Arg) c.3059C>G (p.Pro1020Arg) c.3113C>G (p.Pro1038Arg) c.3062C>G (p.Pro1021Arg) c.3110C>G (p.Pro1037Arg) c.3155C>G (p.Pro1052Arg) c.3020C>G (p.Pro1007Arg) c.3152C>G (p.Pro1051Arg) n.225C>G c.3017C>G (p.Pro1006Arg) n.3313C>G | dbSNP gnomAD v4 |
2 | g.71570626C>T | CA1706432 | DYSF | c.485C>T (p.Pro162Leu) c.3059C>T (p.Pro1020Leu) c.3113C>T (p.Pro1038Leu) c.3062C>T (p.Pro1021Leu) c.3110C>T (p.Pro1037Leu) c.3155C>T (p.Pro1052Leu) c.3020C>T (p.Pro1007Leu) c.3152C>T (p.Pro1051Leu) n.225C>T c.3017C>T (p.Pro1006Leu) n.3313C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570627G>A | CA222150 | DYSF | c.486G>A (p.Pro162=) c.3060G>A (p.Pro1020=) c.3114G>A (p.Pro1038=) c.3063G>A (p.Pro1021=) c.3111G>A (p.Pro1037=) c.3156G>A (p.Pro1052=) c.3021G>A (p.Pro1007=) c.3153G>A (p.Pro1051=) n.226G>A c.3018G>A (p.Pro1006=) n.3314G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570627G>C | CA426702056 | DYSF | c.486G>C (p.Pro162=) c.3060G>C (p.Pro1020=) c.3114G>C (p.Pro1038=) c.3063G>C (p.Pro1021=) c.3111G>C (p.Pro1037=) c.3156G>C (p.Pro1052=) c.3021G>C (p.Pro1007=) c.3153G>C (p.Pro1051=) n.226G>C c.3018G>C (p.Pro1006=) n.3314G>C | |
2 | g.71570627G= | CA1260104086 | DYSF | c.486G= (p.Pro162=) c.3060G= (p.Pro1020=) c.3114G= (p.Pro1038=) c.3063G= (p.Pro1021=) c.3111G= (p.Pro1037=) c.3156G= (p.Pro1052=) c.3021G= (p.Pro1007=) c.3153G= (p.Pro1051=) n.226G= c.3018G= (p.Pro1006=) n.3314G= | |
2 | g.71570627G>T | CA426702055 | DYSF | c.486G>T (p.Pro162=) c.3060G>T (p.Pro1020=) c.3114G>T (p.Pro1038=) c.3063G>T (p.Pro1021=) c.3111G>T (p.Pro1037=) c.3156G>T (p.Pro1052=) c.3021G>T (p.Pro1007=) c.3153G>T (p.Pro1051=) n.226G>T c.3018G>T (p.Pro1006=) n.3314G>T | |
2 | g.71570628dup | CA2580067857 | DYSF | c.487dup (p.Glu163GlyfsTer11) c.3061dup (p.Glu1021GlyfsTer11) c.3115dup (p.Glu1039GlyfsTer11) c.3064dup (p.Glu1022GlyfsTer11) c.3112dup (p.Glu1038GlyfsTer11) c.3157dup (p.Glu1053GlyfsTer11) c.3022dup (p.Glu1008GlyfsTer11) c.3154dup (p.Glu1052GlyfsTer11) n.227dup c.3019dup (p.Glu1007GlyfsTer11) n.3315dup | ClinVar |
2 | g.71570628G>A | CA347216944 | DYSF | c.487G>A (p.Glu163Lys) c.3061G>A (p.Glu1021Lys) c.3115G>A (p.Glu1039Lys) c.3064G>A (p.Glu1022Lys) c.3112G>A (p.Glu1038Lys) c.3157G>A (p.Glu1053Lys) c.3022G>A (p.Glu1008Lys) c.3154G>A (p.Glu1052Lys) n.227G>A c.3019G>A (p.Glu1007Lys) n.3315G>A | COSMIC COSMIC |
2 | g.71570628G>C | CA347216945 | DYSF | c.487G>C (p.Glu163Gln) c.3061G>C (p.Glu1021Gln) c.3115G>C (p.Glu1039Gln) c.3064G>C (p.Glu1022Gln) c.3112G>C (p.Glu1038Gln) c.3157G>C (p.Glu1053Gln) c.3022G>C (p.Glu1008Gln) c.3154G>C (p.Glu1052Gln) n.227G>C c.3019G>C (p.Glu1007Gln) n.3315G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71570628G= | CA1260104087 | DYSF | c.487G= (p.Glu163=) c.3061G= (p.Glu1021=) c.3115G= (p.Glu1039=) c.3064G= (p.Glu1022=) c.3112G= (p.Glu1038=) c.3157G= (p.Glu1053=) c.3022G= (p.Glu1008=) c.3154G= (p.Glu1052=) n.227G= c.3019G= (p.Glu1007=) n.3315G= | |
2 | g.71570628G>T | CA347216946 | DYSF | c.487G>T (p.Glu163Ter) c.3061G>T (p.Glu1021Ter) c.3115G>T (p.Glu1039Ter) c.3064G>T (p.Glu1022Ter) c.3112G>T (p.Glu1038Ter) c.3157G>T (p.Glu1053Ter) c.3022G>T (p.Glu1008Ter) c.3154G>T (p.Glu1052Ter) n.227G>T c.3019G>T (p.Glu1007Ter) n.3315G>T | |
2 | g.71570629A= | CA1260104088 | DYSF | c.488A= (p.Glu163=) c.3062A= (p.Glu1021=) c.3116A= (p.Glu1039=) c.3065A= (p.Glu1022=) c.3113A= (p.Glu1038=) c.3158A= (p.Glu1053=) c.3023A= (p.Glu1008=) c.3155A= (p.Glu1052=) n.228A= c.3020A= (p.Glu1007=) n.3316A= | |
2 | g.71570629A>C | CA347216947 | DYSF | c.488A>C (p.Glu163Ala) c.3062A>C (p.Glu1021Ala) c.3116A>C (p.Glu1039Ala) c.3065A>C (p.Glu1022Ala) c.3113A>C (p.Glu1038Ala) c.3158A>C (p.Glu1053Ala) c.3023A>C (p.Glu1008Ala) c.3155A>C (p.Glu1052Ala) n.228A>C c.3020A>C (p.Glu1007Ala) n.3316A>C | |
2 | g.71570629A>G | CA347216948 | DYSF | c.488A>G (p.Glu163Gly) c.3062A>G (p.Glu1021Gly) c.3116A>G (p.Glu1039Gly) c.3065A>G (p.Glu1022Gly) c.3113A>G (p.Glu1038Gly) c.3158A>G (p.Glu1053Gly) c.3023A>G (p.Glu1008Gly) c.3155A>G (p.Glu1052Gly) n.228A>G c.3020A>G (p.Glu1007Gly) n.3316A>G | |
2 | g.71570629A>T | CA347216949 | DYSF | c.488A>T (p.Glu163Val) c.3062A>T (p.Glu1021Val) c.3116A>T (p.Glu1039Val) c.3065A>T (p.Glu1022Val) c.3113A>T (p.Glu1038Val) c.3158A>T (p.Glu1053Val) c.3023A>T (p.Glu1008Val) c.3155A>T (p.Glu1052Val) n.228A>T c.3020A>T (p.Glu1007Val) n.3316A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71570630G>A | CA426702057 | DYSF | c.489G>A (p.Glu163=) c.3063G>A (p.Glu1021=) c.3117G>A (p.Glu1039=) c.3066G>A (p.Glu1022=) c.3114G>A (p.Glu1038=) c.3159G>A (p.Glu1053=) c.3024G>A (p.Glu1008=) c.3156G>A (p.Glu1052=) n.229G>A c.3021G>A (p.Glu1007=) n.3317G>A | |
2 | g.71570630G>C | CA347216950 | DYSF | c.489G>C (p.Glu163Asp) c.3063G>C (p.Glu1021Asp) c.3117G>C (p.Glu1039Asp) c.3066G>C (p.Glu1022Asp) c.3114G>C (p.Glu1038Asp) c.3159G>C (p.Glu1053Asp) c.3024G>C (p.Glu1008Asp) c.3156G>C (p.Glu1052Asp) n.229G>C c.3021G>C (p.Glu1007Asp) n.3317G>C | |
2 | g.71570630G>T | CA347216951 | DYSF | c.489G>T (p.Glu163Asp) c.3063G>T (p.Glu1021Asp) c.3117G>T (p.Glu1039Asp) c.3066G>T (p.Glu1022Asp) c.3114G>T (p.Glu1038Asp) c.3159G>T (p.Glu1053Asp) c.3024G>T (p.Glu1008Asp) c.3156G>T (p.Glu1052Asp) n.229G>T c.3021G>T (p.Glu1007Asp) n.3317G>T | |
2 | g.71570631del | CA2659549632 | DYSF | c.490del (p.Arg164GlyfsTer?) c.3064del (p.Arg1022GlyfsTer?) c.3118del (p.Arg1040GlyfsTer?) c.3067del (p.Arg1023GlyfsTer?) c.3115del (p.Arg1039GlyfsTer?) c.3160del (p.Arg1054GlyfsTer?) c.3025del (p.Arg1009GlyfsTer?) c.3157del (p.Arg1053GlyfsTer?) n.230del c.3022del (p.Arg1008GlyfsTer?) n.3318del | gnomAD v4 |
2 | g.71570631C>A | CA426702058 | DYSF | c.490C>A (p.Arg164=) c.3064C>A (p.Arg1022=) c.3118C>A (p.Arg1040=) c.3067C>A (p.Arg1023=) c.3115C>A (p.Arg1039=) c.3160C>A (p.Arg1054=) c.3025C>A (p.Arg1009=) c.3157C>A (p.Arg1053=) n.230C>A c.3022C>A (p.Arg1008=) n.3318C>A | gnomAD v4 |
2 | g.71570631C= | CA1260104089 | DYSF | c.490C= (p.Arg164=) c.3064C= (p.Arg1022=) c.3118C= (p.Arg1040=) c.3067C= (p.Arg1023=) c.3115C= (p.Arg1039=) c.3160C= (p.Arg1054=) c.3025C= (p.Arg1009=) c.3157C= (p.Arg1053=) n.230C= c.3022C= (p.Arg1008=) n.3318C= | |
2 | g.71570631C>G | CA347216952 | DYSF | c.490C>G (p.Arg164Gly) c.3064C>G (p.Arg1022Gly) c.3118C>G (p.Arg1040Gly) c.3067C>G (p.Arg1023Gly) c.3115C>G (p.Arg1039Gly) c.3160C>G (p.Arg1054Gly) c.3025C>G (p.Arg1009Gly) c.3157C>G (p.Arg1053Gly) n.230C>G c.3022C>G (p.Arg1008Gly) n.3318C>G | |
2 | g.71570631C>T | CA1706433 | DYSF | c.490C>T (p.Arg164Trp) c.3064C>T (p.Arg1022Trp) c.3118C>T (p.Arg1040Trp) c.3067C>T (p.Arg1023Trp) c.3115C>T (p.Arg1039Trp) c.3160C>T (p.Arg1054Trp) c.3025C>T (p.Arg1009Trp) c.3157C>T (p.Arg1053Trp) n.230C>T c.3022C>T (p.Arg1008Trp) n.3318C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570632G>A | CA147743 | DYSF | c.491G>A (p.Arg164Gln) c.3065G>A (p.Arg1022Gln) c.3119G>A (p.Arg1040Gln) c.3068G>A (p.Arg1023Gln) c.3116G>A (p.Arg1039Gln) c.3161G>A (p.Arg1054Gln) c.3026G>A (p.Arg1009Gln) c.3158G>A (p.Arg1053Gln) n.231G>A c.3023G>A (p.Arg1008Gln) n.3319G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570632G>C | CA347216953 | DYSF | c.491G>C (p.Arg164Pro) c.3065G>C (p.Arg1022Pro) c.3119G>C (p.Arg1040Pro) c.3068G>C (p.Arg1023Pro) c.3116G>C (p.Arg1039Pro) c.3161G>C (p.Arg1054Pro) c.3026G>C (p.Arg1009Pro) c.3158G>C (p.Arg1053Pro) n.231G>C c.3023G>C (p.Arg1008Pro) n.3319G>C | |
2 | g.71570632G= | CA1260104090 | DYSF | c.491G= (p.Arg164=) c.3065G= (p.Arg1022=) c.3119G= (p.Arg1040=) c.3068G= (p.Arg1023=) c.3116G= (p.Arg1039=) c.3161G= (p.Arg1054=) c.3026G= (p.Arg1009=) c.3158G= (p.Arg1053=) n.231G= c.3023G= (p.Arg1008=) n.3319G= | |
2 | g.71570632G>T | CA347216954 | DYSF | c.491G>T (p.Arg164Leu) c.3065G>T (p.Arg1022Leu) c.3119G>T (p.Arg1040Leu) c.3068G>T (p.Arg1023Leu) c.3116G>T (p.Arg1039Leu) c.3161G>T (p.Arg1054Leu) c.3026G>T (p.Arg1009Leu) c.3158G>T (p.Arg1053Leu) n.231G>T c.3023G>T (p.Arg1008Leu) n.3319G>T | |
2 | g.71570633G>A | CA1706434 | DYSF | c.492G>A (p.Arg164=) c.3066G>A (p.Arg1022=) c.3120G>A (p.Arg1040=) c.3069G>A (p.Arg1023=) c.3117G>A (p.Arg1039=) c.3162G>A (p.Arg1054=) c.3027G>A (p.Arg1009=) c.3159G>A (p.Arg1053=) n.232G>A c.3024G>A (p.Arg1008=) n.3320G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71570633G>C | CA426702059 | DYSF | c.492G>C (p.Arg164=) c.3066G>C (p.Arg1022=) c.3120G>C (p.Arg1040=) c.3069G>C (p.Arg1023=) c.3117G>C (p.Arg1039=) c.3162G>C (p.Arg1054=) c.3027G>C (p.Arg1009=) c.3159G>C (p.Arg1053=) n.232G>C c.3024G>C (p.Arg1008=) n.3320G>C | |
2 | g.71570633G= | CA1260104091 | DYSF | c.492G= (p.Arg164=) c.3066G= (p.Arg1022=) c.3120G= (p.Arg1040=) c.3069G= (p.Arg1023=) c.3117G= (p.Arg1039=) c.3162G= (p.Arg1054=) c.3027G= (p.Arg1009=) c.3159G= (p.Arg1053=) n.232G= c.3024G= (p.Arg1008=) n.3320G= | |
2 | g.71570633G>T | CA426702060 | DYSF | c.492G>T (p.Arg164=) c.3066G>T (p.Arg1022=) c.3120G>T (p.Arg1040=) c.3069G>T (p.Arg1023=) c.3117G>T (p.Arg1039=) c.3162G>T (p.Arg1054=) c.3027G>T (p.Arg1009=) c.3159G>T (p.Arg1053=) n.232G>T c.3024G>T (p.Arg1008=) n.3320G>T | |
2 | g.71570637_71570663dup | CA2659549633 | DYSF | c.496_522dup (p.Lys174_Met175insProLysHisTrpValProAlaGluLys) c.3070_3096dup (p.Lys1032_Met1033insProLysHisTrpValProAlaGluLys) c.3124_3150dup (p.Lys1050_Met1051insProLysHisTrpValProAlaGluLys) c.3073_3099dup (p.Lys1033_Met1034insProLysHisTrpValProAlaGluLys) c.3121_3147dup (p.Lys1049_Met1050insProLysHisTrpValProAlaGluLys) c.3166_3192dup (p.Lys1064_Met1065insProLysHisTrpValProAlaGluLys) c.3031_3057dup (p.Lys1019_Met1020insProLysHisTrpValProAlaGluLys) c.3163_3189dup (p.Lys1063_Met1064insProLysHisTrpValProAlaGluLys) n.236_262dup c.3028_3054dup (p.Lys1018_Met1019insProLysHisTrpValProAlaGluLys) n.3324_3350dup | gnomAD v4 |
2 | g.71570634A>C | CA347216955 | DYSF | c.493A>C (p.Lys165Gln) c.3067A>C (p.Lys1023Gln) c.3121A>C (p.Lys1041Gln) c.3070A>C (p.Lys1024Gln) c.3118A>C (p.Lys1040Gln) c.3163A>C (p.Lys1055Gln) c.3028A>C (p.Lys1010Gln) c.3160A>C (p.Lys1054Gln) n.233A>C c.3025A>C (p.Lys1009Gln) n.3321A>C | |
2 | g.71570634A>G | CA347216956 | DYSF | c.493A>G (p.Lys165Glu) c.3067A>G (p.Lys1023Glu) c.3121A>G (p.Lys1041Glu) c.3070A>G (p.Lys1024Glu) c.3118A>G (p.Lys1040Glu) c.3163A>G (p.Lys1055Glu) c.3028A>G (p.Lys1010Glu) c.3160A>G (p.Lys1054Glu) n.233A>G c.3025A>G (p.Lys1009Glu) n.3321A>G | |
2 | g.71570634A>T | CA347216957 | DYSF | c.493A>T (p.Lys165Ter) c.3067A>T (p.Lys1023Ter) c.3121A>T (p.Lys1041Ter) c.3070A>T (p.Lys1024Ter) c.3118A>T (p.Lys1040Ter) c.3163A>T (p.Lys1055Ter) c.3028A>T (p.Lys1010Ter) c.3160A>T (p.Lys1054Ter) n.233A>T c.3025A>T (p.Lys1009Ter) n.3321A>T | |
2 | g.71570635A>C | CA347216958 | DYSF | c.494A>C (p.Lys165Thr) c.3068A>C (p.Lys1023Thr) c.3122A>C (p.Lys1041Thr) c.3071A>C (p.Lys1024Thr) c.3119A>C (p.Lys1040Thr) c.3164A>C (p.Lys1055Thr) c.3029A>C (p.Lys1010Thr) c.3161A>C (p.Lys1054Thr) n.234A>C c.3026A>C (p.Lys1009Thr) n.3322A>C | |
2 | g.71570635A>G | CA347216959 | DYSF | c.494A>G (p.Lys165Arg) c.3068A>G (p.Lys1023Arg) c.3122A>G (p.Lys1041Arg) c.3071A>G (p.Lys1024Arg) c.3119A>G (p.Lys1040Arg) c.3164A>G (p.Lys1055Arg) c.3029A>G (p.Lys1010Arg) c.3161A>G (p.Lys1054Arg) n.234A>G c.3026A>G (p.Lys1009Arg) n.3322A>G | |
2 | g.71570635A>T | CA347216960 | DYSF | c.494A>T (p.Lys165Met) c.3068A>T (p.Lys1023Met) c.3122A>T (p.Lys1041Met) c.3071A>T (p.Lys1024Met) c.3119A>T (p.Lys1040Met) c.3164A>T (p.Lys1055Met) c.3029A>T (p.Lys1010Met) c.3161A>T (p.Lys1054Met) n.234A>T c.3026A>T (p.Lys1009Met) n.3322A>T | |
2 | g.71570636G>A | CA426702061 | DYSF | c.495G>A (p.Lys165=) c.3069G>A (p.Lys1023=) c.3123G>A (p.Lys1041=) c.3072G>A (p.Lys1024=) c.3120G>A (p.Lys1040=) c.3165G>A (p.Lys1055=) c.3030G>A (p.Lys1010=) c.3162G>A (p.Lys1054=) n.235G>A c.3027G>A (p.Lys1009=) n.3323G>A | |
2 | g.71570636G>C | CA347216961 | DYSF | c.495G>C (p.Lys165Asn) c.3069G>C (p.Lys1023Asn) c.3123G>C (p.Lys1041Asn) c.3072G>C (p.Lys1024Asn) c.3120G>C (p.Lys1040Asn) c.3165G>C (p.Lys1055Asn) c.3030G>C (p.Lys1010Asn) c.3162G>C (p.Lys1054Asn) n.235G>C c.3027G>C (p.Lys1009Asn) n.3323G>C | |
2 | g.71570636G>T | CA347216962 | DYSF | c.495G>T (p.Lys165Asn) c.3069G>T (p.Lys1023Asn) c.3123G>T (p.Lys1041Asn) c.3072G>T (p.Lys1024Asn) c.3120G>T (p.Lys1040Asn) c.3165G>T (p.Lys1055Asn) c.3030G>T (p.Lys1010Asn) c.3162G>T (p.Lys1054Asn) n.235G>T c.3027G>T (p.Lys1009Asn) n.3323G>T | |
2 | g.71570637C>A | CA347216964 | DYSF | c.496C>A (p.Pro166Thr) c.3070C>A (p.Pro1024Thr) c.3124C>A (p.Pro1042Thr) c.3073C>A (p.Pro1025Thr) c.3121C>A (p.Pro1041Thr) c.3166C>A (p.Pro1056Thr) c.3031C>A (p.Pro1011Thr) c.3163C>A (p.Pro1055Thr) n.236C>A c.3028C>A (p.Pro1010Thr) n.3324C>A | |
2 | g.71570637C>G | CA347216965 | DYSF | c.496C>G (p.Pro166Ala) c.3070C>G (p.Pro1024Ala) c.3124C>G (p.Pro1042Ala) c.3073C>G (p.Pro1025Ala) c.3121C>G (p.Pro1041Ala) c.3166C>G (p.Pro1056Ala) c.3031C>G (p.Pro1011Ala) c.3163C>G (p.Pro1055Ala) n.236C>G c.3028C>G (p.Pro1010Ala) n.3324C>G | |
2 | g.71570637C>T | CA347216963 | DYSF | c.496C>T (p.Pro166Ser) c.3070C>T (p.Pro1024Ser) c.3124C>T (p.Pro1042Ser) c.3073C>T (p.Pro1025Ser) c.3121C>T (p.Pro1041Ser) c.3166C>T (p.Pro1056Ser) c.3031C>T (p.Pro1011Ser) c.3163C>T (p.Pro1055Ser) n.236C>T c.3028C>T (p.Pro1010Ser) n.3324C>T | |
2 | g.71570638C>A | CA347216967 | DYSF | c.497C>A (p.Pro166Gln) c.3071C>A (p.Pro1024Gln) c.3125C>A (p.Pro1042Gln) c.3074C>A (p.Pro1025Gln) c.3122C>A (p.Pro1041Gln) c.3167C>A (p.Pro1056Gln) c.3032C>A (p.Pro1011Gln) c.3164C>A (p.Pro1055Gln) n.237C>A c.3029C>A (p.Pro1010Gln) n.3325C>A | |
2 | g.71570638C= | CA1260104092 | DYSF | c.497C= (p.Pro166=) c.3071C= (p.Pro1024=) c.3125C= (p.Pro1042=) c.3074C= (p.Pro1025=) c.3122C= (p.Pro1041=) c.3167C= (p.Pro1056=) c.3032C= (p.Pro1011=) c.3164C= (p.Pro1055=) n.237C= c.3029C= (p.Pro1010=) n.3325C= | |
2 | g.71570638C>G | CA347216966 | DYSF | c.497C>G (p.Pro166Arg) c.3071C>G (p.Pro1024Arg) c.3125C>G (p.Pro1042Arg) c.3074C>G (p.Pro1025Arg) c.3122C>G (p.Pro1041Arg) c.3167C>G (p.Pro1056Arg) c.3032C>G (p.Pro1011Arg) c.3164C>G (p.Pro1055Arg) n.237C>G c.3029C>G (p.Pro1010Arg) n.3325C>G | |
2 | g.71570638C>T | CA1706435 | DYSF | c.497C>T (p.Pro166Leu) c.3071C>T (p.Pro1024Leu) c.3125C>T (p.Pro1042Leu) c.3074C>T (p.Pro1025Leu) c.3122C>T (p.Pro1041Leu) c.3167C>T (p.Pro1056Leu) c.3032C>T (p.Pro1011Leu) c.3164C>T (p.Pro1055Leu) n.237C>T c.3029C>T (p.Pro1010Leu) n.3325C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71570639G>A | CA1706436 | DYSF | c.498G>A (p.Pro166=) c.3072G>A (p.Pro1024=) c.3126G>A (p.Pro1042=) c.3075G>A (p.Pro1025=) c.3123G>A (p.Pro1041=) c.3168G>A (p.Pro1056=) c.3033G>A (p.Pro1011=) c.3165G>A (p.Pro1055=) n.238G>A c.3030G>A (p.Pro1010=) n.3326G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570639G>C | CA426702063 | DYSF | c.498G>C (p.Pro166=) c.3072G>C (p.Pro1024=) c.3126G>C (p.Pro1042=) c.3075G>C (p.Pro1025=) c.3123G>C (p.Pro1041=) c.3168G>C (p.Pro1056=) c.3033G>C (p.Pro1011=) c.3165G>C (p.Pro1055=) n.238G>C c.3030G>C (p.Pro1010=) n.3326G>C | ClinVar dbSNP gnomAD v4 |
2 | g.71570639G= | CA1260104093 | DYSF | c.498G= (p.Pro166=) c.3072G= (p.Pro1024=) c.3126G= (p.Pro1042=) c.3075G= (p.Pro1025=) c.3123G= (p.Pro1041=) c.3168G= (p.Pro1056=) c.3033G= (p.Pro1011=) c.3165G= (p.Pro1055=) n.238G= c.3030G= (p.Pro1010=) n.3326G= | |
2 | g.71570639G>T | CA426702062 | DYSF | c.498G>T (p.Pro166=) c.3072G>T (p.Pro1024=) c.3126G>T (p.Pro1042=) c.3075G>T (p.Pro1025=) c.3123G>T (p.Pro1041=) c.3168G>T (p.Pro1056=) c.3033G>T (p.Pro1011=) c.3165G>T (p.Pro1055=) n.238G>T c.3030G>T (p.Pro1010=) n.3326G>T | |
2 | g.71570640A>C | CA347216969 | DYSF | c.499A>C (p.Lys167Gln) c.3073A>C (p.Lys1025Gln) c.3127A>C (p.Lys1043Gln) c.3076A>C (p.Lys1026Gln) c.3124A>C (p.Lys1042Gln) c.3169A>C (p.Lys1057Gln) c.3034A>C (p.Lys1012Gln) c.3166A>C (p.Lys1056Gln) n.239A>C c.3031A>C (p.Lys1011Gln) n.3327A>C | |
2 | g.71570640A>G | CA347216968 | DYSF | c.499A>G (p.Lys167Glu) c.3073A>G (p.Lys1025Glu) c.3127A>G (p.Lys1043Glu) c.3076A>G (p.Lys1026Glu) c.3124A>G (p.Lys1042Glu) c.3169A>G (p.Lys1057Glu) c.3034A>G (p.Lys1012Glu) c.3166A>G (p.Lys1056Glu) n.239A>G c.3031A>G (p.Lys1011Glu) n.3327A>G | gnomAD v4 |
2 | g.71570640A>T | CA347216970 | DYSF | c.499A>T (p.Lys167Ter) c.3073A>T (p.Lys1025Ter) c.3127A>T (p.Lys1043Ter) c.3076A>T (p.Lys1026Ter) c.3124A>T (p.Lys1042Ter) c.3169A>T (p.Lys1057Ter) c.3034A>T (p.Lys1012Ter) c.3166A>T (p.Lys1056Ter) n.239A>T c.3031A>T (p.Lys1011Ter) n.3327A>T | gnomAD v4 |
2 | g.71570641A>C | CA347216971 | DYSF | c.500A>C (p.Lys167Thr) c.3074A>C (p.Lys1025Thr) c.3128A>C (p.Lys1043Thr) c.3077A>C (p.Lys1026Thr) c.3125A>C (p.Lys1042Thr) c.3170A>C (p.Lys1057Thr) c.3035A>C (p.Lys1012Thr) c.3167A>C (p.Lys1056Thr) n.240A>C c.3032A>C (p.Lys1011Thr) n.3328A>C | |
2 | g.71570641A>G | CA347216973 | DYSF | c.500A>G (p.Lys167Arg) c.3074A>G (p.Lys1025Arg) c.3128A>G (p.Lys1043Arg) c.3077A>G (p.Lys1026Arg) c.3125A>G (p.Lys1042Arg) c.3170A>G (p.Lys1057Arg) c.3035A>G (p.Lys1012Arg) c.3167A>G (p.Lys1056Arg) n.240A>G c.3032A>G (p.Lys1011Arg) n.3328A>G | |
2 | g.71570641A>T | CA347216972 | DYSF | c.500A>T (p.Lys167Met) c.3074A>T (p.Lys1025Met) c.3128A>T (p.Lys1043Met) c.3077A>T (p.Lys1026Met) c.3125A>T (p.Lys1042Met) c.3170A>T (p.Lys1057Met) c.3035A>T (p.Lys1012Met) c.3167A>T (p.Lys1056Met) n.240A>T c.3032A>T (p.Lys1011Met) n.3328A>T | |
2 | g.71570642G>A | CA426702064 | DYSF | c.501G>A (p.Lys167=) c.3075G>A (p.Lys1025=) c.3129G>A (p.Lys1043=) c.3078G>A (p.Lys1026=) c.3126G>A (p.Lys1042=) c.3171G>A (p.Lys1057=) c.3036G>A (p.Lys1012=) c.3168G>A (p.Lys1056=) n.241G>A c.3033G>A (p.Lys1011=) n.3329G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71570642G>C | CA347216974 | DYSF | c.501G>C (p.Lys167Asn) c.3075G>C (p.Lys1025Asn) c.3129G>C (p.Lys1043Asn) c.3078G>C (p.Lys1026Asn) c.3126G>C (p.Lys1042Asn) c.3171G>C (p.Lys1057Asn) c.3036G>C (p.Lys1012Asn) c.3168G>C (p.Lys1056Asn) n.241G>C c.3033G>C (p.Lys1011Asn) n.3329G>C | |
2 | g.71570642G= | CA1260104094 | DYSF | c.501G= (p.Lys167=) c.3075G= (p.Lys1025=) c.3129G= (p.Lys1043=) c.3078G= (p.Lys1026=) c.3126G= (p.Lys1042=) c.3171G= (p.Lys1057=) c.3036G= (p.Lys1012=) c.3168G= (p.Lys1056=) n.241G= c.3033G= (p.Lys1011=) n.3329G= | |
2 | g.71570642G>T | CA347216975 | DYSF | c.501G>T (p.Lys167Asn) c.3075G>T (p.Lys1025Asn) c.3129G>T (p.Lys1043Asn) c.3078G>T (p.Lys1026Asn) c.3126G>T (p.Lys1042Asn) c.3171G>T (p.Lys1057Asn) c.3036G>T (p.Lys1012Asn) c.3168G>T (p.Lys1056Asn) n.241G>T c.3033G>T (p.Lys1011Asn) n.3329G>T | |
2 | g.71570643C>A | CA347216976 | DYSF | c.502C>A (p.His168Asn) c.3076C>A (p.His1026Asn) c.3130C>A (p.His1044Asn) c.3079C>A (p.His1027Asn) c.3127C>A (p.His1043Asn) c.3172C>A (p.His1058Asn) c.3037C>A (p.His1013Asn) c.3169C>A (p.His1057Asn) n.242C>A c.3034C>A (p.His1012Asn) n.3330C>A | |
2 | g.71570643C>G | CA347216977 | DYSF | c.502C>G (p.His168Asp) c.3076C>G (p.His1026Asp) c.3130C>G (p.His1044Asp) c.3079C>G (p.His1027Asp) c.3127C>G (p.His1043Asp) c.3172C>G (p.His1058Asp) c.3037C>G (p.His1013Asp) c.3169C>G (p.His1057Asp) n.242C>G c.3034C>G (p.His1012Asp) n.3330C>G | |
2 | g.71570643C>T | CA347216978 | DYSF | c.502C>T (p.His168Tyr) c.3076C>T (p.His1026Tyr) c.3130C>T (p.His1044Tyr) c.3079C>T (p.His1027Tyr) c.3127C>T (p.His1043Tyr) c.3172C>T (p.His1058Tyr) c.3037C>T (p.His1013Tyr) c.3169C>T (p.His1057Tyr) n.242C>T c.3034C>T (p.His1012Tyr) n.3330C>T | |
2 | g.71570644A= | CA1260104095 | DYSF | c.503A= (p.His168=) c.3077A= (p.His1026=) c.3131A= (p.His1044=) c.3080A= (p.His1027=) c.3128A= (p.His1043=) c.3173A= (p.His1058=) c.3038A= (p.His1013=) c.3170A= (p.His1057=) n.243A= c.3035A= (p.His1012=) n.3331A= | |
2 | g.71570644A>C | CA347216979 | DYSF | c.503A>C (p.His168Pro) c.3077A>C (p.His1026Pro) c.3131A>C (p.His1044Pro) c.3080A>C (p.His1027Pro) c.3128A>C (p.His1043Pro) c.3173A>C (p.His1058Pro) c.3038A>C (p.His1013Pro) c.3170A>C (p.His1057Pro) n.243A>C c.3035A>C (p.His1012Pro) n.3331A>C | ClinVar dbSNP gnomAD v4 |
2 | g.71570644A>G | CA347216980 | DYSF | c.503A>G (p.His168Arg) c.3077A>G (p.His1026Arg) c.3131A>G (p.His1044Arg) c.3080A>G (p.His1027Arg) c.3128A>G (p.His1043Arg) c.3173A>G (p.His1058Arg) c.3038A>G (p.His1013Arg) c.3170A>G (p.His1057Arg) n.243A>G c.3035A>G (p.His1012Arg) n.3331A>G | dbSNP |
2 | g.71570644A>T | CA347216981 | DYSF | c.503A>T (p.His168Leu) c.3077A>T (p.His1026Leu) c.3131A>T (p.His1044Leu) c.3080A>T (p.His1027Leu) c.3128A>T (p.His1043Leu) c.3173A>T (p.His1058Leu) c.3038A>T (p.His1013Leu) c.3170A>T (p.His1057Leu) n.243A>T c.3035A>T (p.His1012Leu) n.3331A>T | |
2 | g.71570645C>A | CA347216982 | DYSF | c.504C>A (p.His168Gln) c.3078C>A (p.His1026Gln) c.3132C>A (p.His1044Gln) c.3081C>A (p.His1027Gln) c.3129C>A (p.His1043Gln) c.3174C>A (p.His1058Gln) c.3039C>A (p.His1013Gln) c.3171C>A (p.His1057Gln) n.244C>A c.3036C>A (p.His1012Gln) n.3332C>A | |
2 | g.71570645C>G | CA347216983 | DYSF | c.504C>G (p.His168Gln) c.3078C>G (p.His1026Gln) c.3132C>G (p.His1044Gln) c.3081C>G (p.His1027Gln) c.3129C>G (p.His1043Gln) c.3174C>G (p.His1058Gln) c.3039C>G (p.His1013Gln) c.3171C>G (p.His1057Gln) n.244C>G c.3036C>G (p.His1012Gln) n.3332C>G | |
2 | g.71570645C>T | CA426702065 | DYSF | c.504C>T (p.His168=) c.3078C>T (p.His1026=) c.3132C>T (p.His1044=) c.3081C>T (p.His1027=) c.3129C>T (p.His1043=) c.3174C>T (p.His1058=) c.3039C>T (p.His1013=) c.3171C>T (p.His1057=) n.244C>T c.3036C>T (p.His1012=) n.3332C>T | |
2 | g.71570646T>A | CA347216986 | DYSF | c.505T>A (p.Trp169Arg) c.3079T>A (p.Trp1027Arg) c.3133T>A (p.Trp1045Arg) c.3082T>A (p.Trp1028Arg) c.3130T>A (p.Trp1044Arg) c.3175T>A (p.Trp1059Arg) c.3040T>A (p.Trp1014Arg) c.3172T>A (p.Trp1058Arg) n.245T>A c.3037T>A (p.Trp1013Arg) n.3333T>A | |
2 | g.71570646T>C | CA347216985 | DYSF | c.505T>C (p.Trp169Arg) c.3079T>C (p.Trp1027Arg) c.3133T>C (p.Trp1045Arg) c.3082T>C (p.Trp1028Arg) c.3130T>C (p.Trp1044Arg) c.3175T>C (p.Trp1059Arg) c.3040T>C (p.Trp1014Arg) c.3172T>C (p.Trp1058Arg) n.245T>C c.3037T>C (p.Trp1013Arg) n.3333T>C | gnomAD v4 |
2 | g.71570646T>G | CA347216984 | DYSF | c.505T>G (p.Trp169Gly) c.3079T>G (p.Trp1027Gly) c.3133T>G (p.Trp1045Gly) c.3082T>G (p.Trp1028Gly) c.3130T>G (p.Trp1044Gly) c.3175T>G (p.Trp1059Gly) c.3040T>G (p.Trp1014Gly) c.3172T>G (p.Trp1058Gly) n.245T>G c.3037T>G (p.Trp1013Gly) n.3333T>G | |
2 | g.71570647G>A | CA347216987 | DYSF | c.506G>A (p.Trp169Ter) c.3080G>A (p.Trp1027Ter) c.3134G>A (p.Trp1045Ter) c.3083G>A (p.Trp1028Ter) c.3131G>A (p.Trp1044Ter) c.3176G>A (p.Trp1059Ter) c.3041G>A (p.Trp1014Ter) c.3173G>A (p.Trp1058Ter) n.246G>A c.3038G>A (p.Trp1013Ter) n.3334G>A | ClinVar dbSNP |
2 | g.71570647G>C | CA1706437 | DYSF | c.506G>C (p.Trp169Ser) c.3080G>C (p.Trp1027Ser) c.3134G>C (p.Trp1045Ser) c.3083G>C (p.Trp1028Ser) c.3131G>C (p.Trp1044Ser) c.3176G>C (p.Trp1059Ser) c.3041G>C (p.Trp1014Ser) c.3173G>C (p.Trp1058Ser) n.246G>C c.3038G>C (p.Trp1013Ser) n.3334G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570647G= | CA1260104096 | DYSF | c.506G= (p.Trp169=) c.3080G= (p.Trp1027=) c.3134G= (p.Trp1045=) c.3083G= (p.Trp1028=) c.3131G= (p.Trp1044=) c.3176G= (p.Trp1059=) c.3041G= (p.Trp1014=) c.3173G= (p.Trp1058=) n.246G= c.3038G= (p.Trp1013=) n.3334G= | |
2 | g.71570647G>T | CA347216988 | DYSF | c.506G>T (p.Trp169Leu) c.3080G>T (p.Trp1027Leu) c.3134G>T (p.Trp1045Leu) c.3083G>T (p.Trp1028Leu) c.3131G>T (p.Trp1044Leu) c.3176G>T (p.Trp1059Leu) c.3041G>T (p.Trp1014Leu) c.3173G>T (p.Trp1058Leu) n.246G>T c.3038G>T (p.Trp1013Leu) n.3334G>T | |
2 | g.71570648G>A | CA347216989 | DYSF | c.507G>A (p.Trp169Ter) c.3081G>A (p.Trp1027Ter) c.3135G>A (p.Trp1045Ter) c.3084G>A (p.Trp1028Ter) c.3132G>A (p.Trp1044Ter) c.3177G>A (p.Trp1059Ter) c.3042G>A (p.Trp1014Ter) c.3174G>A (p.Trp1058Ter) n.247G>A c.3039G>A (p.Trp1013Ter) n.3335G>A | ClinVar |
2 | g.71570648G>C | CA347216990 | DYSF | c.507G>C (p.Trp169Cys) c.3081G>C (p.Trp1027Cys) c.3135G>C (p.Trp1045Cys) c.3084G>C (p.Trp1028Cys) c.3132G>C (p.Trp1044Cys) c.3177G>C (p.Trp1059Cys) c.3042G>C (p.Trp1014Cys) c.3174G>C (p.Trp1058Cys) n.247G>C c.3039G>C (p.Trp1013Cys) n.3335G>C | |
2 | g.71570648G>T | CA347216991 | DYSF | c.507G>T (p.Trp169Cys) c.3081G>T (p.Trp1027Cys) c.3135G>T (p.Trp1045Cys) c.3084G>T (p.Trp1028Cys) c.3132G>T (p.Trp1044Cys) c.3177G>T (p.Trp1059Cys) c.3042G>T (p.Trp1014Cys) c.3174G>T (p.Trp1058Cys) n.247G>T c.3039G>T (p.Trp1013Cys) n.3335G>T | |
2 | g.71570649G>A | CA347216992 | DYSF | c.508G>A (p.Val170Ile) c.3082G>A (p.Val1028Ile) c.3136G>A (p.Val1046Ile) c.3085G>A (p.Val1029Ile) c.3133G>A (p.Val1045Ile) c.3178G>A (p.Val1060Ile) c.3043G>A (p.Val1015Ile) c.3175G>A (p.Val1059Ile) n.248G>A c.3040G>A (p.Val1014Ile) n.3336G>A | dbSNP |
2 | g.71570649G>C | CA347216993 | DYSF | c.508G>C (p.Val170Leu) c.3082G>C (p.Val1028Leu) c.3136G>C (p.Val1046Leu) c.3085G>C (p.Val1029Leu) c.3133G>C (p.Val1045Leu) c.3178G>C (p.Val1060Leu) c.3043G>C (p.Val1015Leu) c.3175G>C (p.Val1059Leu) n.248G>C c.3040G>C (p.Val1014Leu) n.3336G>C | |
2 | g.71570649G= | CA1260104097 | DYSF | c.508G= (p.Val170=) c.3082G= (p.Val1028=) c.3136G= (p.Val1046=) c.3085G= (p.Val1029=) c.3133G= (p.Val1045=) c.3178G= (p.Val1060=) c.3043G= (p.Val1015=) c.3175G= (p.Val1059=) n.248G= c.3040G= (p.Val1014=) n.3336G= | |
2 | g.71570649G>T | CA347216994 | DYSF | c.508G>T (p.Val170Phe) c.3082G>T (p.Val1028Phe) c.3136G>T (p.Val1046Phe) c.3085G>T (p.Val1029Phe) c.3133G>T (p.Val1045Phe) c.3178G>T (p.Val1060Phe) c.3043G>T (p.Val1015Phe) c.3175G>T (p.Val1059Phe) n.248G>T c.3040G>T (p.Val1014Phe) n.3336G>T | |
2 | g.71570650T>A | CA347216995 | DYSF | c.509T>A (p.Val170Asp) c.3083T>A (p.Val1028Asp) c.3137T>A (p.Val1046Asp) c.3086T>A (p.Val1029Asp) c.3134T>A (p.Val1045Asp) c.3179T>A (p.Val1060Asp) c.3044T>A (p.Val1015Asp) c.3176T>A (p.Val1059Asp) n.249T>A c.3041T>A (p.Val1014Asp) n.3337T>A | |
2 | g.71570650T>C | CA347216996 | DYSF | c.509T>C (p.Val170Ala) c.3083T>C (p.Val1028Ala) c.3137T>C (p.Val1046Ala) c.3086T>C (p.Val1029Ala) c.3134T>C (p.Val1045Ala) c.3179T>C (p.Val1060Ala) c.3044T>C (p.Val1015Ala) c.3176T>C (p.Val1059Ala) n.249T>C c.3041T>C (p.Val1014Ala) n.3337T>C | |
2 | g.71570650T>G | CA347216997 | DYSF | c.509T>G (p.Val170Gly) c.3083T>G (p.Val1028Gly) c.3137T>G (p.Val1046Gly) c.3086T>G (p.Val1029Gly) c.3134T>G (p.Val1045Gly) c.3179T>G (p.Val1060Gly) c.3044T>G (p.Val1015Gly) c.3176T>G (p.Val1059Gly) n.249T>G c.3041T>G (p.Val1014Gly) n.3337T>G | dbSNP |
2 | g.71570650T= | CA1260104098 | DYSF | c.509T= (p.Val170=) c.3083T= (p.Val1028=) c.3137T= (p.Val1046=) c.3086T= (p.Val1029=) c.3134T= (p.Val1045=) c.3179T= (p.Val1060=) c.3044T= (p.Val1015=) c.3176T= (p.Val1059=) n.249T= c.3041T= (p.Val1014=) n.3337T= | |
2 | g.71570651C>A | CA426702066 | DYSF | c.510C>A (p.Val170=) c.3084C>A (p.Val1028=) c.3138C>A (p.Val1046=) c.3087C>A (p.Val1029=) c.3135C>A (p.Val1045=) c.3180C>A (p.Val1060=) c.3045C>A (p.Val1015=) c.3177C>A (p.Val1059=) n.250C>A c.3042C>A (p.Val1014=) n.3338C>A | |
2 | g.71570651C= | CA1260104099 | DYSF | c.510C= (p.Val170=) c.3084C= (p.Val1028=) c.3138C= (p.Val1046=) c.3087C= (p.Val1029=) c.3135C= (p.Val1045=) c.3180C= (p.Val1060=) c.3045C= (p.Val1015=) c.3177C= (p.Val1059=) n.250C= c.3042C= (p.Val1014=) n.3338C= | |
2 | g.71570651C>G | CA1706438 | DYSF | c.510C>G (p.Val170=) c.3084C>G (p.Val1028=) c.3138C>G (p.Val1046=) c.3087C>G (p.Val1029=) c.3135C>G (p.Val1045=) c.3180C>G (p.Val1060=) c.3045C>G (p.Val1015=) c.3177C>G (p.Val1059=) n.250C>G c.3042C>G (p.Val1014=) n.3338C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570651C>T | CA426702067 | DYSF | c.510C>T (p.Val170=) c.3084C>T (p.Val1028=) c.3138C>T (p.Val1046=) c.3087C>T (p.Val1029=) c.3135C>T (p.Val1045=) c.3180C>T (p.Val1060=) c.3045C>T (p.Val1015=) c.3177C>T (p.Val1059=) n.250C>T c.3042C>T (p.Val1014=) n.3338C>T | |
2 | g.71570652C>A | CA347217000 | DYSF | c.511C>A (p.Pro171Thr) c.3085C>A (p.Pro1029Thr) c.3139C>A (p.Pro1047Thr) c.3088C>A (p.Pro1030Thr) c.3136C>A (p.Pro1046Thr) c.3181C>A (p.Pro1061Thr) c.3046C>A (p.Pro1016Thr) c.3178C>A (p.Pro1060Thr) n.251C>A c.3043C>A (p.Pro1015Thr) n.3339C>A | |
2 | g.71570652C= | CA1260104100 | DYSF | c.511C= (p.Pro171=) c.3085C= (p.Pro1029=) c.3139C= (p.Pro1047=) c.3088C= (p.Pro1030=) c.3136C= (p.Pro1046=) c.3181C= (p.Pro1061=) c.3046C= (p.Pro1016=) c.3178C= (p.Pro1060=) n.251C= c.3043C= (p.Pro1015=) n.3339C= | |
2 | g.71570652C>G | CA347216998 | DYSF | c.511C>G (p.Pro171Ala) c.3085C>G (p.Pro1029Ala) c.3139C>G (p.Pro1047Ala) c.3088C>G (p.Pro1030Ala) c.3136C>G (p.Pro1046Ala) c.3181C>G (p.Pro1061Ala) c.3046C>G (p.Pro1016Ala) c.3178C>G (p.Pro1060Ala) n.251C>G c.3043C>G (p.Pro1015Ala) n.3339C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570652C>T | CA347216999 | DYSF | c.511C>T (p.Pro171Ser) c.3085C>T (p.Pro1029Ser) c.3139C>T (p.Pro1047Ser) c.3088C>T (p.Pro1030Ser) c.3136C>T (p.Pro1046Ser) c.3181C>T (p.Pro1061Ser) c.3046C>T (p.Pro1016Ser) c.3178C>T (p.Pro1060Ser) n.251C>T c.3043C>T (p.Pro1015Ser) n.3339C>T | |
2 | g.71570653C>A | CA347217001 | DYSF | c.512C>A (p.Pro171His) c.3086C>A (p.Pro1029His) c.3140C>A (p.Pro1047His) c.3089C>A (p.Pro1030His) c.3137C>A (p.Pro1046His) c.3182C>A (p.Pro1061His) c.3047C>A (p.Pro1016His) c.3179C>A (p.Pro1060His) n.252C>A c.3044C>A (p.Pro1015His) n.3340C>A | |
2 | g.71570653C>G | CA347217002 | DYSF | c.512C>G (p.Pro171Arg) c.3086C>G (p.Pro1029Arg) c.3140C>G (p.Pro1047Arg) c.3089C>G (p.Pro1030Arg) c.3137C>G (p.Pro1046Arg) c.3182C>G (p.Pro1061Arg) c.3047C>G (p.Pro1016Arg) c.3179C>G (p.Pro1060Arg) n.252C>G c.3044C>G (p.Pro1015Arg) n.3340C>G | |
2 | g.71570653C>T | CA347217003 | DYSF | c.512C>T (p.Pro171Leu) c.3086C>T (p.Pro1029Leu) c.3140C>T (p.Pro1047Leu) c.3089C>T (p.Pro1030Leu) c.3137C>T (p.Pro1046Leu) c.3182C>T (p.Pro1061Leu) c.3047C>T (p.Pro1016Leu) c.3179C>T (p.Pro1060Leu) n.252C>T c.3044C>T (p.Pro1015Leu) n.3340C>T | |
2 | g.71570654T>A | CA426702068 | DYSF | c.513T>A (p.Pro171=) c.3087T>A (p.Pro1029=) c.3141T>A (p.Pro1047=) c.3090T>A (p.Pro1030=) c.3138T>A (p.Pro1046=) c.3183T>A (p.Pro1061=) c.3048T>A (p.Pro1016=) c.3180T>A (p.Pro1060=) n.253T>A c.3045T>A (p.Pro1015=) n.3341T>A | |
2 | g.71570654T>C | CA426702069 | DYSF | c.513T>C (p.Pro171=) c.3087T>C (p.Pro1029=) c.3141T>C (p.Pro1047=) c.3090T>C (p.Pro1030=) c.3138T>C (p.Pro1046=) c.3183T>C (p.Pro1061=) c.3048T>C (p.Pro1016=) c.3180T>C (p.Pro1060=) n.253T>C c.3045T>C (p.Pro1015=) n.3341T>C | ClinVar dbSNP |
2 | g.71570654T>G | CA1706439 | DYSF | c.513T>G (p.Pro171=) c.3087T>G (p.Pro1029=) c.3141T>G (p.Pro1047=) c.3090T>G (p.Pro1030=) c.3138T>G (p.Pro1046=) c.3183T>G (p.Pro1061=) c.3048T>G (p.Pro1016=) c.3180T>G (p.Pro1060=) n.253T>G c.3045T>G (p.Pro1015=) n.3341T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71570654T= | CA1260104101 | DYSF | c.513T= (p.Pro171=) c.3087T= (p.Pro1029=) c.3141T= (p.Pro1047=) c.3090T= (p.Pro1030=) c.3138T= (p.Pro1046=) c.3183T= (p.Pro1061=) c.3048T= (p.Pro1016=) c.3180T= (p.Pro1060=) n.253T= c.3045T= (p.Pro1015=) n.3341T= | |
2 | g.71570655G>A | CA347217004 | DYSF | c.514G>A (p.Ala172Thr) c.3088G>A (p.Ala1030Thr) c.3142G>A (p.Ala1048Thr) c.3091G>A (p.Ala1031Thr) c.3139G>A (p.Ala1047Thr) c.3184G>A (p.Ala1062Thr) c.3049G>A (p.Ala1017Thr) c.3181G>A (p.Ala1061Thr) n.254G>A c.3046G>A (p.Ala1016Thr) n.3342G>A | |
2 | g.71570655G>C | CA347217005 | DYSF | c.514G>C (p.Ala172Pro) c.3088G>C (p.Ala1030Pro) c.3142G>C (p.Ala1048Pro) c.3091G>C (p.Ala1031Pro) c.3139G>C (p.Ala1047Pro) c.3184G>C (p.Ala1062Pro) c.3049G>C (p.Ala1017Pro) c.3181G>C (p.Ala1061Pro) n.254G>C c.3046G>C (p.Ala1016Pro) n.3342G>C | |
2 | g.71570655G>T | CA347217006 | DYSF | c.514G>T (p.Ala172Ser) c.3088G>T (p.Ala1030Ser) c.3142G>T (p.Ala1048Ser) c.3091G>T (p.Ala1031Ser) c.3139G>T (p.Ala1047Ser) c.3184G>T (p.Ala1062Ser) c.3049G>T (p.Ala1017Ser) c.3181G>T (p.Ala1061Ser) n.254G>T c.3046G>T (p.Ala1016Ser) n.3342G>T | gnomAD v4 |
2 | g.71570656C>A | CA347217007 | DYSF | c.515C>A (p.Ala172Asp) c.3089C>A (p.Ala1030Asp) c.3143C>A (p.Ala1048Asp) c.3092C>A (p.Ala1031Asp) c.3140C>A (p.Ala1047Asp) c.3185C>A (p.Ala1062Asp) c.3050C>A (p.Ala1017Asp) c.3182C>A (p.Ala1061Asp) n.255C>A c.3047C>A (p.Ala1016Asp) n.3343C>A | |
2 | g.71570656C>G | CA347217008 | DYSF | c.515C>G (p.Ala172Gly) c.3089C>G (p.Ala1030Gly) c.3143C>G (p.Ala1048Gly) c.3092C>G (p.Ala1031Gly) c.3140C>G (p.Ala1047Gly) c.3185C>G (p.Ala1062Gly) c.3050C>G (p.Ala1017Gly) c.3182C>G (p.Ala1061Gly) n.255C>G c.3047C>G (p.Ala1016Gly) n.3343C>G | |
2 | g.71570656C>T | CA347217009 | DYSF | c.515C>T (p.Ala172Val) c.3089C>T (p.Ala1030Val) c.3143C>T (p.Ala1048Val) c.3092C>T (p.Ala1031Val) c.3140C>T (p.Ala1047Val) c.3185C>T (p.Ala1062Val) c.3050C>T (p.Ala1017Val) c.3182C>T (p.Ala1061Val) n.255C>T c.3047C>T (p.Ala1016Val) n.3343C>T | gnomAD v4 |
2 | g.71570657T>A | CA426702070 | DYSF | c.516T>A (p.Ala172=) c.3090T>A (p.Ala1030=) c.3144T>A (p.Ala1048=) c.3093T>A (p.Ala1031=) c.3141T>A (p.Ala1047=) c.3186T>A (p.Ala1062=) c.3051T>A (p.Ala1017=) c.3183T>A (p.Ala1061=) n.256T>A c.3048T>A (p.Ala1016=) n.3344T>A | |
2 | g.71570657T>C | CA49746706 | DYSF | c.516T>C (p.Ala172=) c.3090T>C (p.Ala1030=) c.3144T>C (p.Ala1048=) c.3093T>C (p.Ala1031=) c.3141T>C (p.Ala1047=) c.3186T>C (p.Ala1062=) c.3051T>C (p.Ala1017=) c.3183T>C (p.Ala1061=) n.256T>C c.3048T>C (p.Ala1016=) n.3344T>C | ClinVar dbSNP |
2 | g.71570657T>G | CA426702071 | DYSF | c.516T>G (p.Ala172=) c.3090T>G (p.Ala1030=) c.3144T>G (p.Ala1048=) c.3093T>G (p.Ala1031=) c.3141T>G (p.Ala1047=) c.3186T>G (p.Ala1062=) c.3051T>G (p.Ala1017=) c.3183T>G (p.Ala1061=) n.256T>G c.3048T>G (p.Ala1016=) n.3344T>G | |
2 | g.71570657T= | CA1260104102 | DYSF | c.516T= (p.Ala172=) c.3090T= (p.Ala1030=) c.3144T= (p.Ala1048=) c.3093T= (p.Ala1031=) c.3141T= (p.Ala1047=) c.3186T= (p.Ala1062=) c.3051T= (p.Ala1017=) c.3183T= (p.Ala1061=) n.256T= c.3048T= (p.Ala1016=) n.3344T= | |
2 | g.71570658G>A | CA1706440 | DYSF | c.517G>A (p.Glu173Lys) c.3091G>A (p.Glu1031Lys) c.3145G>A (p.Glu1049Lys) c.3094G>A (p.Glu1032Lys) c.3142G>A (p.Glu1048Lys) c.3187G>A (p.Glu1063Lys) c.3052G>A (p.Glu1018Lys) c.3184G>A (p.Glu1062Lys) n.257G>A c.3049G>A (p.Glu1017Lys) n.3345G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570658G>C | CA347217011 | DYSF | c.517G>C (p.Glu173Gln) c.3091G>C (p.Glu1031Gln) c.3145G>C (p.Glu1049Gln) c.3094G>C (p.Glu1032Gln) c.3142G>C (p.Glu1048Gln) c.3187G>C (p.Glu1063Gln) c.3052G>C (p.Glu1018Gln) c.3184G>C (p.Glu1062Gln) n.257G>C c.3049G>C (p.Glu1017Gln) n.3345G>C | |
2 | g.71570658G= | CA1260104103 | DYSF | c.517G= (p.Glu173=) c.3091G= (p.Glu1031=) c.3145G= (p.Glu1049=) c.3094G= (p.Glu1032=) c.3142G= (p.Glu1048=) c.3187G= (p.Glu1063=) c.3052G= (p.Glu1018=) c.3184G= (p.Glu1062=) n.257G= c.3049G= (p.Glu1017=) n.3345G= | |
2 | g.71570658G>T | CA347217010 | DYSF | c.517G>T (p.Glu173Ter) c.3091G>T (p.Glu1031Ter) c.3145G>T (p.Glu1049Ter) c.3094G>T (p.Glu1032Ter) c.3142G>T (p.Glu1048Ter) c.3187G>T (p.Glu1063Ter) c.3052G>T (p.Glu1018Ter) c.3184G>T (p.Glu1062Ter) n.257G>T c.3049G>T (p.Glu1017Ter) n.3345G>T | |
2 | g.71570659A>C | CA347217012 | DYSF | c.518A>C (p.Glu173Ala) c.3092A>C (p.Glu1031Ala) c.3146A>C (p.Glu1049Ala) c.3095A>C (p.Glu1032Ala) c.3143A>C (p.Glu1048Ala) c.3188A>C (p.Glu1063Ala) c.3053A>C (p.Glu1018Ala) c.3185A>C (p.Glu1062Ala) n.258A>C c.3050A>C (p.Glu1017Ala) n.3346A>C | |
2 | g.71570659A>G | CA347217013 | DYSF | c.518A>G (p.Glu173Gly) c.3092A>G (p.Glu1031Gly) c.3146A>G (p.Glu1049Gly) c.3095A>G (p.Glu1032Gly) c.3143A>G (p.Glu1048Gly) c.3188A>G (p.Glu1063Gly) c.3053A>G (p.Glu1018Gly) c.3185A>G (p.Glu1062Gly) n.258A>G c.3050A>G (p.Glu1017Gly) n.3346A>G | |
2 | g.71570659A>T | CA347217014 | DYSF | c.518A>T (p.Glu173Val) c.3092A>T (p.Glu1031Val) c.3146A>T (p.Glu1049Val) c.3095A>T (p.Glu1032Val) c.3143A>T (p.Glu1048Val) c.3188A>T (p.Glu1063Val) c.3053A>T (p.Glu1018Val) c.3185A>T (p.Glu1062Val) n.258A>T c.3050A>T (p.Glu1017Val) n.3346A>T | |
2 | g.71570662_71570664del | CA2586969479 | DYSF | c.521_523del (p.Lys174del) c.3095_3097del (p.Lys1032del) c.3149_3151del (p.Lys1050del) c.3098_3100del (p.Lys1033del) c.3146_3148del (p.Lys1049del) c.3191_3193del (p.Lys1064del) c.3056_3058del (p.Lys1019del) c.3188_3190del (p.Lys1063del) n.261_263del c.3053_3055del (p.Lys1018del) n.3349_3351del | gnomAD v4 |
2 | g.71570660G>A | CA426702072 | DYSF | c.519G>A (p.Glu173=) c.3093G>A (p.Glu1031=) c.3147G>A (p.Glu1049=) c.3096G>A (p.Glu1032=) c.3144G>A (p.Glu1048=) c.3189G>A (p.Glu1063=) c.3054G>A (p.Glu1018=) c.3186G>A (p.Glu1062=) n.259G>A c.3051G>A (p.Glu1017=) n.3347G>A | gnomAD v4 |
2 | g.71570660G>C | CA347217015 | DYSF | c.519G>C (p.Glu173Asp) c.3093G>C (p.Glu1031Asp) c.3147G>C (p.Glu1049Asp) c.3096G>C (p.Glu1032Asp) c.3144G>C (p.Glu1048Asp) c.3189G>C (p.Glu1063Asp) c.3054G>C (p.Glu1018Asp) c.3186G>C (p.Glu1062Asp) n.259G>C c.3051G>C (p.Glu1017Asp) n.3347G>C | |
2 | g.71570660G>T | CA347217016 | DYSF | c.519G>T (p.Glu173Asp) c.3093G>T (p.Glu1031Asp) c.3147G>T (p.Glu1049Asp) c.3096G>T (p.Glu1032Asp) c.3144G>T (p.Glu1048Asp) c.3189G>T (p.Glu1063Asp) c.3054G>T (p.Glu1018Asp) c.3186G>T (p.Glu1062Asp) n.259G>T c.3051G>T (p.Glu1017Asp) n.3347G>T | |
2 | g.71570661A= | CA1260104104 | DYSF | c.520A= (p.Lys174=) c.3094A= (p.Lys1032=) c.3148A= (p.Lys1050=) c.3097A= (p.Lys1033=) c.3145A= (p.Lys1049=) c.3190A= (p.Lys1064=) c.3055A= (p.Lys1019=) c.3187A= (p.Lys1063=) n.260A= c.3052A= (p.Lys1018=) n.3348A= | |
2 | g.71570661A>C | CA347217017 | DYSF | c.520A>C (p.Lys174Gln) c.3094A>C (p.Lys1032Gln) c.3148A>C (p.Lys1050Gln) c.3097A>C (p.Lys1033Gln) c.3145A>C (p.Lys1049Gln) c.3190A>C (p.Lys1064Gln) c.3055A>C (p.Lys1019Gln) c.3187A>C (p.Lys1063Gln) n.260A>C c.3052A>C (p.Lys1018Gln) n.3348A>C | |
2 | g.71570661A>G | CA347217018 | DYSF | c.520A>G (p.Lys174Glu) c.3094A>G (p.Lys1032Glu) c.3148A>G (p.Lys1050Glu) c.3097A>G (p.Lys1033Glu) c.3145A>G (p.Lys1049Glu) c.3190A>G (p.Lys1064Glu) c.3055A>G (p.Lys1019Glu) c.3187A>G (p.Lys1063Glu) n.260A>G c.3052A>G (p.Lys1018Glu) n.3348A>G | ClinVar dbSNP |
2 | g.71570661A>T | CA347217019 | DYSF | c.520A>T (p.Lys174Ter) c.3094A>T (p.Lys1032Ter) c.3148A>T (p.Lys1050Ter) c.3097A>T (p.Lys1033Ter) c.3145A>T (p.Lys1049Ter) c.3190A>T (p.Lys1064Ter) c.3055A>T (p.Lys1019Ter) c.3187A>T (p.Lys1063Ter) n.260A>T c.3052A>T (p.Lys1018Ter) n.3348A>T | |
2 | g.71570662A= | CA1260104105 | DYSF | c.521A= (p.Lys174=) c.3095A= (p.Lys1032=) c.3149A= (p.Lys1050=) c.3098A= (p.Lys1033=) c.3146A= (p.Lys1049=) c.3191A= (p.Lys1064=) c.3056A= (p.Lys1019=) c.3188A= (p.Lys1063=) n.261A= c.3053A= (p.Lys1018=) n.3349A= | |
2 | g.71570662A>C | CA347217020 | DYSF | c.521A>C (p.Lys174Thr) c.3095A>C (p.Lys1032Thr) c.3149A>C (p.Lys1050Thr) c.3098A>C (p.Lys1033Thr) c.3146A>C (p.Lys1049Thr) c.3191A>C (p.Lys1064Thr) c.3056A>C (p.Lys1019Thr) c.3188A>C (p.Lys1063Thr) n.261A>C c.3053A>C (p.Lys1018Thr) n.3349A>C | gnomAD v4 |
2 | g.71570662A>G | CA347217021 | DYSF | c.521A>G (p.Lys174Arg) c.3095A>G (p.Lys1032Arg) c.3149A>G (p.Lys1050Arg) c.3098A>G (p.Lys1033Arg) c.3146A>G (p.Lys1049Arg) c.3191A>G (p.Lys1064Arg) c.3056A>G (p.Lys1019Arg) c.3188A>G (p.Lys1063Arg) n.261A>G c.3053A>G (p.Lys1018Arg) n.3349A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71570662A>T | CA347217022 | DYSF | c.521A>T (p.Lys174Met) c.3095A>T (p.Lys1032Met) c.3149A>T (p.Lys1050Met) c.3098A>T (p.Lys1033Met) c.3146A>T (p.Lys1049Met) c.3191A>T (p.Lys1064Met) c.3056A>T (p.Lys1019Met) c.3188A>T (p.Lys1063Met) n.261A>T c.3053A>T (p.Lys1018Met) n.3349A>T | ClinVar dbSNP |
2 | g.71570663G>A | CA1706442 | DYSF | c.522G>A (p.Lys174=) c.3096G>A (p.Lys1032=) c.3150G>A (p.Lys1050=) c.3099G>A (p.Lys1033=) c.3147G>A (p.Lys1049=) c.3192G>A (p.Lys1064=) c.3057G>A (p.Lys1019=) c.3189G>A (p.Lys1063=) n.262G>A c.3054G>A (p.Lys1018=) n.3350G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570663G>C | CA347217023 | DYSF | c.522G>C (p.Lys174Asn) c.3096G>C (p.Lys1032Asn) c.3150G>C (p.Lys1050Asn) c.3099G>C (p.Lys1033Asn) c.3147G>C (p.Lys1049Asn) c.3192G>C (p.Lys1064Asn) c.3057G>C (p.Lys1019Asn) c.3189G>C (p.Lys1063Asn) n.262G>C c.3054G>C (p.Lys1018Asn) n.3350G>C | ClinVar gnomAD v4 |
2 | g.71570663G= | CA1260104106 | DYSF | c.522G= (p.Lys174=) c.3096G= (p.Lys1032=) c.3150G= (p.Lys1050=) c.3099G= (p.Lys1033=) c.3147G= (p.Lys1049=) c.3192G= (p.Lys1064=) c.3057G= (p.Lys1019=) c.3189G= (p.Lys1063=) n.262G= c.3054G= (p.Lys1018=) n.3350G= | |
2 | g.71570663G>T | CA1706441 | DYSF | c.522G>T (p.Lys174Asn) c.3096G>T (p.Lys1032Asn) c.3150G>T (p.Lys1050Asn) c.3099G>T (p.Lys1033Asn) c.3147G>T (p.Lys1049Asn) c.3192G>T (p.Lys1064Asn) c.3057G>T (p.Lys1019Asn) c.3189G>T (p.Lys1063Asn) n.262G>T c.3054G>T (p.Lys1018Asn) n.3350G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71570663dup | CA2838706843 | DYSF | c.522dup (p.Met175AspfsTer?) c.3096dup (p.Met1033AspfsTer?) c.3150dup (p.Met1051AspfsTer?) c.3099dup (p.Met1034AspfsTer?) c.3147dup (p.Met1050AspfsTer?) c.3192dup (p.Met1065AspfsTer?) c.3057dup (p.Met1020AspfsTer?) c.3189dup (p.Met1064AspfsTer?) n.262dup c.3054dup (p.Met1019AspfsTer?) n.3350dup | |
2 | g.71570664A>C | CA347217026 | DYSF | c.523A>C (p.Met175Leu) c.3097A>C (p.Met1033Leu) c.3151A>C (p.Met1051Leu) c.3100A>C (p.Met1034Leu) c.3148A>C (p.Met1050Leu) c.3193A>C (p.Met1065Leu) c.3058A>C (p.Met1020Leu) c.3190A>C (p.Met1064Leu) n.263A>C c.3055A>C (p.Met1019Leu) n.3351A>C | |
2 | g.71570664A>G | CA347217024 | DYSF | c.523A>G (p.Met175Val) c.3097A>G (p.Met1033Val) c.3151A>G (p.Met1051Val) c.3100A>G (p.Met1034Val) c.3148A>G (p.Met1050Val) c.3193A>G (p.Met1065Val) c.3058A>G (p.Met1020Val) c.3190A>G (p.Met1064Val) n.263A>G c.3055A>G (p.Met1019Val) n.3351A>G | ClinVar |
2 | g.71570664A>T | CA347217025 | DYSF | c.523A>T (p.Met175Leu) c.3097A>T (p.Met1033Leu) c.3151A>T (p.Met1051Leu) c.3100A>T (p.Met1034Leu) c.3148A>T (p.Met1050Leu) c.3193A>T (p.Met1065Leu) c.3058A>T (p.Met1020Leu) c.3190A>T (p.Met1064Leu) n.263A>T c.3055A>T (p.Met1019Leu) n.3351A>T | |
2 | g.71570665T>A | CA347217027 | DYSF | c.524T>A (p.Met175Lys) c.3098T>A (p.Met1033Lys) c.3152T>A (p.Met1051Lys) c.3101T>A (p.Met1034Lys) c.3149T>A (p.Met1050Lys) c.3194T>A (p.Met1065Lys) c.3059T>A (p.Met1020Lys) c.3191T>A (p.Met1064Lys) n.264T>A c.3056T>A (p.Met1019Lys) n.3352T>A | |
2 | g.71570665T>C | CA347217028 | DYSF | c.524T>C (p.Met175Thr) c.3098T>C (p.Met1033Thr) c.3152T>C (p.Met1051Thr) c.3101T>C (p.Met1034Thr) c.3149T>C (p.Met1050Thr) c.3194T>C (p.Met1065Thr) c.3059T>C (p.Met1020Thr) c.3191T>C (p.Met1064Thr) n.264T>C c.3056T>C (p.Met1019Thr) n.3352T>C | gnomAD v4 |
2 | g.71570665T>G | CA347217029 | DYSF | c.524T>G (p.Met175Arg) c.3098T>G (p.Met1033Arg) c.3152T>G (p.Met1051Arg) c.3101T>G (p.Met1034Arg) c.3149T>G (p.Met1050Arg) c.3194T>G (p.Met1065Arg) c.3059T>G (p.Met1020Arg) c.3191T>G (p.Met1064Arg) n.264T>G c.3056T>G (p.Met1019Arg) n.3352T>G | gnomAD v4 |
2 | g.71570666G>A | CA347217030 | DYSF | c.525G>A (p.Met175Ile) c.3099G>A (p.Met1033Ile) c.3153G>A (p.Met1051Ile) c.3102G>A (p.Met1034Ile) c.3150G>A (p.Met1050Ile) c.3195G>A (p.Met1065Ile) c.3060G>A (p.Met1020Ile) c.3192G>A (p.Met1064Ile) n.265G>A c.3057G>A (p.Met1019Ile) n.3353G>A | ClinVar dbSNP gnomAD v4 |
2 | g.71570666G>C | CA347217031 | DYSF | c.525G>C (p.Met175Ile) c.3099G>C (p.Met1033Ile) c.3153G>C (p.Met1051Ile) c.3102G>C (p.Met1034Ile) c.3150G>C (p.Met1050Ile) c.3195G>C (p.Met1065Ile) c.3060G>C (p.Met1020Ile) c.3192G>C (p.Met1064Ile) n.265G>C c.3057G>C (p.Met1019Ile) n.3353G>C | |
2 | g.71570666G= | CA1260104107 | DYSF | c.525G= (p.Met175=) c.3099G= (p.Met1033=) c.3153G= (p.Met1051=) c.3102G= (p.Met1034=) c.3150G= (p.Met1050=) c.3195G= (p.Met1065=) c.3060G= (p.Met1020=) c.3192G= (p.Met1064=) n.265G= c.3057G= (p.Met1019=) n.3353G= | |
2 | g.71570666G>T | CA347217032 | DYSF | c.525G>T (p.Met175Ile) c.3099G>T (p.Met1033Ile) c.3153G>T (p.Met1051Ile) c.3102G>T (p.Met1034Ile) c.3150G>T (p.Met1050Ile) c.3195G>T (p.Met1065Ile) c.3060G>T (p.Met1020Ile) c.3192G>T (p.Met1064Ile) n.265G>T c.3057G>T (p.Met1019Ile) n.3353G>T | |
2 | g.71570667T>A | CA347217033 | DYSF | c.526T>A (p.Tyr176Asn) c.3100T>A (p.Tyr1034Asn) c.3154T>A (p.Tyr1052Asn) c.3103T>A (p.Tyr1035Asn) c.3151T>A (p.Tyr1051Asn) c.3196T>A (p.Tyr1066Asn) c.3061T>A (p.Tyr1021Asn) c.3193T>A (p.Tyr1065Asn) n.266T>A c.3058T>A (p.Tyr1020Asn) n.3354T>A | COSMIC COSMIC |
2 | g.71570667T>C | CA347217034 | DYSF | c.526T>C (p.Tyr176His) c.3100T>C (p.Tyr1034His) c.3154T>C (p.Tyr1052His) c.3103T>C (p.Tyr1035His) c.3151T>C (p.Tyr1051His) c.3196T>C (p.Tyr1066His) c.3061T>C (p.Tyr1021His) c.3193T>C (p.Tyr1065His) n.266T>C c.3058T>C (p.Tyr1020His) n.3354T>C | |
2 | g.71570667T>G | CA347217035 | DYSF | c.526T>G (p.Tyr176Asp) c.3100T>G (p.Tyr1034Asp) c.3154T>G (p.Tyr1052Asp) c.3103T>G (p.Tyr1035Asp) c.3151T>G (p.Tyr1051Asp) c.3196T>G (p.Tyr1066Asp) c.3061T>G (p.Tyr1021Asp) c.3193T>G (p.Tyr1065Asp) n.266T>G c.3058T>G (p.Tyr1020Asp) n.3354T>G | |
2 | g.71570668A= | CA1260104108 | DYSF | c.527A= (p.Tyr176=) c.3101A= (p.Tyr1034=) c.3155A= (p.Tyr1052=) c.3104A= (p.Tyr1035=) c.3152A= (p.Tyr1051=) c.3197A= (p.Tyr1066=) c.3062A= (p.Tyr1021=) c.3194A= (p.Tyr1065=) n.267A= c.3059A= (p.Tyr1020=) n.3355A= | |
2 | g.71570668A>C | CA347217036 | DYSF | c.527A>C (p.Tyr176Ser) c.3101A>C (p.Tyr1034Ser) c.3155A>C (p.Tyr1052Ser) c.3104A>C (p.Tyr1035Ser) c.3152A>C (p.Tyr1051Ser) c.3197A>C (p.Tyr1066Ser) c.3062A>C (p.Tyr1021Ser) c.3194A>C (p.Tyr1065Ser) n.267A>C c.3059A>C (p.Tyr1020Ser) n.3355A>C | |
2 | g.71570668A>G | CA347217037 | DYSF | c.527A>G (p.Tyr176Cys) c.3101A>G (p.Tyr1034Cys) c.3155A>G (p.Tyr1052Cys) c.3104A>G (p.Tyr1035Cys) c.3152A>G (p.Tyr1051Cys) c.3197A>G (p.Tyr1066Cys) c.3062A>G (p.Tyr1021Cys) c.3194A>G (p.Tyr1065Cys) n.267A>G c.3059A>G (p.Tyr1020Cys) n.3355A>G | ClinVar dbSNP gnomAD v4 |
2 | g.71570668A>T | CA347217038 | DYSF | c.527A>T (p.Tyr176Phe) c.3101A>T (p.Tyr1034Phe) c.3155A>T (p.Tyr1052Phe) c.3104A>T (p.Tyr1035Phe) c.3152A>T (p.Tyr1051Phe) c.3197A>T (p.Tyr1066Phe) c.3062A>T (p.Tyr1021Phe) c.3194A>T (p.Tyr1065Phe) n.267A>T c.3059A>T (p.Tyr1020Phe) n.3355A>T | |
2 | g.71570669C>A | CA347217039 | DYSF | c.528C>A (p.Tyr176Ter) c.3102C>A (p.Tyr1034Ter) c.3156C>A (p.Tyr1052Ter) c.3105C>A (p.Tyr1035Ter) c.3153C>A (p.Tyr1051Ter) c.3198C>A (p.Tyr1066Ter) c.3063C>A (p.Tyr1021Ter) c.3195C>A (p.Tyr1065Ter) n.268C>A c.3060C>A (p.Tyr1020Ter) n.3356C>A | |
2 | g.71570669C>G | CA347217040 | DYSF | c.528C>G (p.Tyr176Ter) c.3102C>G (p.Tyr1034Ter) c.3156C>G (p.Tyr1052Ter) c.3105C>G (p.Tyr1035Ter) c.3153C>G (p.Tyr1051Ter) c.3198C>G (p.Tyr1066Ter) c.3063C>G (p.Tyr1021Ter) c.3195C>G (p.Tyr1065Ter) n.268C>G c.3060C>G (p.Tyr1020Ter) n.3356C>G | |
2 | g.71570669C>T | CA426702073 | DYSF | c.528C>T (p.Tyr176=) c.3102C>T (p.Tyr1034=) c.3156C>T (p.Tyr1052=) c.3105C>T (p.Tyr1035=) c.3153C>T (p.Tyr1051=) c.3198C>T (p.Tyr1066=) c.3063C>T (p.Tyr1021=) c.3195C>T (p.Tyr1065=) n.268C>T c.3060C>T (p.Tyr1020=) n.3356C>T | |
2 | g.71570670T>A | CA347217041 | DYSF | c.529T>A (p.Tyr177Asn) c.3103T>A (p.Tyr1035Asn) c.3157T>A (p.Tyr1053Asn) c.3106T>A (p.Tyr1036Asn) c.3154T>A (p.Tyr1052Asn) c.3199T>A (p.Tyr1067Asn) c.3064T>A (p.Tyr1022Asn) c.3196T>A (p.Tyr1066Asn) n.269T>A c.3061T>A (p.Tyr1021Asn) n.3357T>A | |
2 | g.71570670T>C | CA347217042 | DYSF | c.529T>C (p.Tyr177His) c.3103T>C (p.Tyr1035His) c.3157T>C (p.Tyr1053His) c.3106T>C (p.Tyr1036His) c.3154T>C (p.Tyr1052His) c.3199T>C (p.Tyr1067His) c.3064T>C (p.Tyr1022His) c.3196T>C (p.Tyr1066His) n.269T>C c.3061T>C (p.Tyr1021His) n.3357T>C | |
2 | g.71570670T>G | CA347217043 | DYSF | c.529T>G (p.Tyr177Asp) c.3103T>G (p.Tyr1035Asp) c.3157T>G (p.Tyr1053Asp) c.3106T>G (p.Tyr1036Asp) c.3154T>G (p.Tyr1052Asp) c.3199T>G (p.Tyr1067Asp) c.3064T>G (p.Tyr1022Asp) c.3196T>G (p.Tyr1066Asp) n.269T>G c.3061T>G (p.Tyr1021Asp) n.3357T>G | |
2 | g.71570670_71570671del | CA2695200816 | DYSF | c.529_530del (p.Tyr177HisfsTer?) c.3103_3104del (p.Tyr1035HisfsTer?) c.3157_3158del (p.Tyr1053HisfsTer?) c.3106_3107del (p.Tyr1036HisfsTer?) c.3154_3155del (p.Tyr1052HisfsTer?) c.3199_3200del (p.Tyr1067HisfsTer?) c.3064_3065del (p.Tyr1022HisfsTer?) c.3196_3197del (p.Tyr1066HisfsTer?) n.269_270del c.3061_3062del (p.Tyr1021HisfsTer?) n.3357_3358del | ClinVar |
2 | g.71570670_71570671delinsAGATCG | CA2573105966 | DYSF | c.529_530delinsAGATCG (p.Tyr177ArgfsTer?) c.3103_3104delinsAGATCG (p.Tyr1035ArgfsTer?) c.3157_3158delinsAGATCG (p.Tyr1053ArgfsTer?) c.3106_3107delinsAGATCG (p.Tyr1036ArgfsTer?) c.3154_3155delinsAGATCG (p.Tyr1052ArgfsTer?) c.3199_3200delinsAGATCG (p.Tyr1067ArgfsTer?) c.3064_3065delinsAGATCG (p.Tyr1022ArgfsTer?) c.3196_3197delinsAGATCG (p.Tyr1066ArgfsTer?) n.269_270delinsAGATCG c.3061_3062delinsAGATCG (p.Tyr1021ArgfsTer?) n.3357_3358delinsAGATCG | |
2 | g.71570671A>C | CA347217044 | DYSF | c.530A>C (p.Tyr177Ser) c.3104A>C (p.Tyr1035Ser) c.3158A>C (p.Tyr1053Ser) c.3107A>C (p.Tyr1036Ser) c.3155A>C (p.Tyr1052Ser) c.3200A>C (p.Tyr1067Ser) c.3065A>C (p.Tyr1022Ser) c.3197A>C (p.Tyr1066Ser) n.270A>C c.3062A>C (p.Tyr1021Ser) n.3358A>C | |
2 | g.71570671A>G | CA347217045 | DYSF | c.530A>G (p.Tyr177Cys) c.3104A>G (p.Tyr1035Cys) c.3158A>G (p.Tyr1053Cys) c.3107A>G (p.Tyr1036Cys) c.3155A>G (p.Tyr1052Cys) c.3200A>G (p.Tyr1067Cys) c.3065A>G (p.Tyr1022Cys) c.3197A>G (p.Tyr1066Cys) n.270A>G c.3062A>G (p.Tyr1021Cys) n.3358A>G | gnomAD v4 |
2 | g.71570671A>T | CA347217046 | DYSF | c.530A>T (p.Tyr177Phe) c.3104A>T (p.Tyr1035Phe) c.3158A>T (p.Tyr1053Phe) c.3107A>T (p.Tyr1036Phe) c.3155A>T (p.Tyr1052Phe) c.3200A>T (p.Tyr1067Phe) c.3065A>T (p.Tyr1022Phe) c.3197A>T (p.Tyr1066Phe) n.270A>T c.3062A>T (p.Tyr1021Phe) n.3358A>T | |
2 | g.71570677_71570678del | CA2831039077 | DYSF | c.536_537del (p.His179ProfsTer?) c.3110_3111del (p.His1037ProfsTer?) c.3164_3165del (p.His1055ProfsTer?) c.3113_3114del (p.His1038ProfsTer?) c.3161_3162del (p.His1054ProfsTer?) c.3206_3207del (p.His1069ProfsTer?) c.3071_3072del (p.His1024ProfsTer?) c.3203_3204del (p.His1068ProfsTer?) n.276_277del c.3068_3069del (p.His1023ProfsTer?) n.3364_3365del | |
2 | g.71570672C>A | CA347217047 | DYSF | c.531C>A (p.Tyr177Ter) c.3105C>A (p.Tyr1035Ter) c.3159C>A (p.Tyr1053Ter) c.3108C>A (p.Tyr1036Ter) c.3156C>A (p.Tyr1052Ter) c.3201C>A (p.Tyr1067Ter) c.3066C>A (p.Tyr1022Ter) c.3198C>A (p.Tyr1066Ter) n.271C>A c.3063C>A (p.Tyr1021Ter) n.3359C>A | ClinVar |
2 | g.71570672C= | CA1260104109 | DYSF | c.531C= (p.Tyr177=) c.3105C= (p.Tyr1035=) c.3159C= (p.Tyr1053=) c.3108C= (p.Tyr1036=) c.3156C= (p.Tyr1052=) c.3201C= (p.Tyr1067=) c.3066C= (p.Tyr1022=) c.3198C= (p.Tyr1066=) n.271C= c.3063C= (p.Tyr1021=) n.3359C= | |
2 | g.71570672C>G | CA347217048 | DYSF | c.531C>G (p.Tyr177Ter) c.3105C>G (p.Tyr1035Ter) c.3159C>G (p.Tyr1053Ter) c.3108C>G (p.Tyr1036Ter) c.3156C>G (p.Tyr1052Ter) c.3201C>G (p.Tyr1067Ter) c.3066C>G (p.Tyr1022Ter) c.3198C>G (p.Tyr1066Ter) n.271C>G c.3063C>G (p.Tyr1021Ter) n.3359C>G | |
2 | g.71570672C>T | CA426702074 | DYSF | c.531C>T (p.Tyr177=) c.3105C>T (p.Tyr1035=) c.3159C>T (p.Tyr1053=) c.3108C>T (p.Tyr1036=) c.3156C>T (p.Tyr1052=) c.3201C>T (p.Tyr1067=) c.3066C>T (p.Tyr1022=) c.3198C>T (p.Tyr1066=) n.271C>T c.3063C>T (p.Tyr1021=) n.3359C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71570673A= | CA1260104110 | DYSF | c.532A= (p.Thr178=) c.3106A= (p.Thr1036=) c.3160A= (p.Thr1054=) c.3109A= (p.Thr1037=) c.3157A= (p.Thr1053=) c.3202A= (p.Thr1068=) c.3067A= (p.Thr1023=) c.3199A= (p.Thr1067=) n.272A= c.3064A= (p.Thr1022=) n.3360A= | |
2 | g.71570673A>C | CA347217049 | DYSF | c.532A>C (p.Thr178Pro) c.3106A>C (p.Thr1036Pro) c.3160A>C (p.Thr1054Pro) c.3109A>C (p.Thr1037Pro) c.3157A>C (p.Thr1053Pro) c.3202A>C (p.Thr1068Pro) c.3067A>C (p.Thr1023Pro) c.3199A>C (p.Thr1067Pro) n.272A>C c.3064A>C (p.Thr1022Pro) n.3360A>C | |
2 | g.71570673A>G | CA1706443 | DYSF | c.532A>G (p.Thr178Ala) c.3106A>G (p.Thr1036Ala) c.3160A>G (p.Thr1054Ala) c.3109A>G (p.Thr1037Ala) c.3157A>G (p.Thr1053Ala) c.3202A>G (p.Thr1068Ala) c.3067A>G (p.Thr1023Ala) c.3199A>G (p.Thr1067Ala) n.272A>G c.3064A>G (p.Thr1022Ala) n.3360A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570673A>T | CA347217050 | DYSF | c.532A>T (p.Thr178Ser) c.3106A>T (p.Thr1036Ser) c.3160A>T (p.Thr1054Ser) c.3109A>T (p.Thr1037Ser) c.3157A>T (p.Thr1053Ser) c.3202A>T (p.Thr1068Ser) c.3067A>T (p.Thr1023Ser) c.3199A>T (p.Thr1067Ser) n.272A>T c.3064A>T (p.Thr1022Ser) n.3360A>T | |
2 | g.71570674C>A | CA347217051 | DYSF | c.533C>A (p.Thr178Lys) c.3107C>A (p.Thr1036Lys) c.3161C>A (p.Thr1054Lys) c.3110C>A (p.Thr1037Lys) c.3158C>A (p.Thr1053Lys) c.3203C>A (p.Thr1068Lys) c.3068C>A (p.Thr1023Lys) c.3200C>A (p.Thr1067Lys) n.273C>A c.3065C>A (p.Thr1022Lys) n.3361C>A | |
2 | g.71570674C= | CA1260104111 | DYSF | c.533C= (p.Thr178=) c.3107C= (p.Thr1036=) c.3161C= (p.Thr1054=) c.3110C= (p.Thr1037=) c.3158C= (p.Thr1053=) c.3203C= (p.Thr1068=) c.3068C= (p.Thr1023=) c.3200C= (p.Thr1067=) n.273C= c.3065C= (p.Thr1022=) n.3361C= | |
2 | g.71570674C>G | CA49746708 | DYSF | c.533C>G (p.Thr178Arg) c.3107C>G (p.Thr1036Arg) c.3161C>G (p.Thr1054Arg) c.3110C>G (p.Thr1037Arg) c.3158C>G (p.Thr1053Arg) c.3203C>G (p.Thr1068Arg) c.3068C>G (p.Thr1023Arg) c.3200C>G (p.Thr1067Arg) n.273C>G c.3065C>G (p.Thr1022Arg) n.3361C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71570674C>T | CA1706444 | DYSF | c.533C>T (p.Thr178Ile) c.3107C>T (p.Thr1036Ile) c.3161C>T (p.Thr1054Ile) c.3110C>T (p.Thr1037Ile) c.3158C>T (p.Thr1053Ile) c.3203C>T (p.Thr1068Ile) c.3068C>T (p.Thr1023Ile) c.3200C>T (p.Thr1067Ile) n.273C>T c.3065C>T (p.Thr1022Ile) n.3361C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570674_71570680delinsCACACCG | CA1260104112 | DYSF | c.533_539delinsCACACCG (p.Thr178=) c.3107_3113delinsCACACCG (p.Thr1036=) c.3161_3167delinsCACACCG (p.Thr1054=) c.3110_3116delinsCACACCG (p.Thr1037=) c.3158_3164delinsCACACCG (p.Thr1053=) c.3203_3209delinsCACACCG (p.Thr1068=) c.3068_3074delinsCACACCG (p.Thr1023=) c.3200_3206delinsCACACCG (p.Thr1067=) n.273_279delinsCACACCG c.3065_3071delinsCACACCG (p.Thr1022=) n.3361_3367delinsCACACCG | |
2 | g.71570675A= | CA1260104113 | DYSF | c.534A= (p.Thr178=) c.3108A= (p.Thr1036=) c.3162A= (p.Thr1054=) c.3111A= (p.Thr1037=) c.3159A= (p.Thr1053=) c.3204A= (p.Thr1068=) c.3069A= (p.Thr1023=) c.3201A= (p.Thr1067=) n.274A= c.3066A= (p.Thr1022=) n.3362A= | |
2 | g.71570675A>C | CA426702075 | DYSF | c.534A>C (p.Thr178=) c.3108A>C (p.Thr1036=) c.3162A>C (p.Thr1054=) c.3111A>C (p.Thr1037=) c.3159A>C (p.Thr1053=) c.3204A>C (p.Thr1068=) c.3069A>C (p.Thr1023=) c.3201A>C (p.Thr1067=) n.274A>C c.3066A>C (p.Thr1022=) n.3362A>C | ClinVar |
2 | g.71570675A>G | CA426702076 | DYSF | c.534A>G (p.Thr178=) c.3108A>G (p.Thr1036=) c.3162A>G (p.Thr1054=) c.3111A>G (p.Thr1037=) c.3159A>G (p.Thr1053=) c.3204A>G (p.Thr1068=) c.3069A>G (p.Thr1023=) c.3201A>G (p.Thr1067=) n.274A>G c.3066A>G (p.Thr1022=) n.3362A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71570675A>T | CA426702077 | DYSF | c.534A>T (p.Thr178=) c.3108A>T (p.Thr1036=) c.3162A>T (p.Thr1054=) c.3111A>T (p.Thr1037=) c.3159A>T (p.Thr1053=) c.3204A>T (p.Thr1068=) c.3069A>T (p.Thr1023=) c.3201A>T (p.Thr1067=) n.274A>T c.3066A>T (p.Thr1022=) n.3362A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71570677_71570682del | CA913189538 | DYSF | c.536_541del (p.His179_Arg180del) c.3110_3115del (p.His1037_Arg1038del) c.3164_3169del (p.His1055_Arg1056del) c.3113_3118del (p.His1038_Arg1039del) c.3161_3166del (p.His1054_Arg1055del) c.3206_3211del (p.His1069_Arg1070del) c.3071_3076del (p.His1024_Arg1025del) c.3203_3208del (p.His1068_Arg1069del) n.276_281del c.3068_3073del (p.His1023_Arg1024del) n.3364_3369del | ClinVar dbSNP |
2 | g.71570676C>A | CA347217052 | DYSF | c.535C>A (p.His179Asn) c.3109C>A (p.His1037Asn) c.3163C>A (p.His1055Asn) c.3112C>A (p.His1038Asn) c.3160C>A (p.His1054Asn) c.3205C>A (p.His1069Asn) c.3070C>A (p.His1024Asn) c.3202C>A (p.His1068Asn) n.275C>A c.3067C>A (p.His1023Asn) n.3363C>A | |
2 | g.71570676C= | CA1260104114 | DYSF | c.535C= (p.His179=) c.3109C= (p.His1037=) c.3163C= (p.His1055=) c.3112C= (p.His1038=) c.3160C= (p.His1054=) c.3205C= (p.His1069=) c.3070C= (p.His1024=) c.3202C= (p.His1068=) n.275C= c.3067C= (p.His1023=) n.3363C= | |
2 | g.71570676C>G | CA347217053 | DYSF | c.535C>G (p.His179Asp) c.3109C>G (p.His1037Asp) c.3163C>G (p.His1055Asp) c.3112C>G (p.His1038Asp) c.3160C>G (p.His1054Asp) c.3205C>G (p.His1069Asp) c.3070C>G (p.His1024Asp) c.3202C>G (p.His1068Asp) n.275C>G c.3067C>G (p.His1023Asp) n.3363C>G | |
2 | g.71570676C>T | CA1706445 | DYSF | c.535C>T (p.His179Tyr) c.3109C>T (p.His1037Tyr) c.3163C>T (p.His1055Tyr) c.3112C>T (p.His1038Tyr) c.3160C>T (p.His1054Tyr) c.3205C>T (p.His1069Tyr) c.3070C>T (p.His1024Tyr) c.3202C>T (p.His1068Tyr) n.275C>T c.3067C>T (p.His1023Tyr) n.3363C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71570677A>C | CA347217054 | DYSF | c.536A>C (p.His179Pro) c.3110A>C (p.His1037Pro) c.3164A>C (p.His1055Pro) c.3113A>C (p.His1038Pro) c.3161A>C (p.His1054Pro) c.3206A>C (p.His1069Pro) c.3071A>C (p.His1024Pro) c.3203A>C (p.His1068Pro) n.276A>C c.3068A>C (p.His1023Pro) n.3364A>C | |
2 | g.71570677A>G | CA347217055 | DYSF | c.536A>G (p.His179Arg) c.3110A>G (p.His1037Arg) c.3164A>G (p.His1055Arg) c.3113A>G (p.His1038Arg) c.3161A>G (p.His1054Arg) c.3206A>G (p.His1069Arg) c.3071A>G (p.His1024Arg) c.3203A>G (p.His1068Arg) n.276A>G c.3068A>G (p.His1023Arg) n.3364A>G | |
2 | g.71570677A>T | CA347217056 | DYSF | c.536A>T (p.His179Leu) c.3110A>T (p.His1037Leu) c.3164A>T (p.His1055Leu) c.3113A>T (p.His1038Leu) c.3161A>T (p.His1054Leu) c.3206A>T (p.His1069Leu) c.3071A>T (p.His1024Leu) c.3203A>T (p.His1068Leu) n.276A>T c.3068A>T (p.His1023Leu) n.3364A>T | |
2 | g.71570678C>A | CA49746710 | DYSF | c.537C>A (p.His179Gln) c.3111C>A (p.His1037Gln) c.3165C>A (p.His1055Gln) c.3114C>A (p.His1038Gln) c.3162C>A (p.His1054Gln) c.3207C>A (p.His1069Gln) c.3072C>A (p.His1024Gln) c.3204C>A (p.His1068Gln) n.277C>A c.3069C>A (p.His1023Gln) n.3365C>A | dbSNP gnomAD v4 |
2 | g.71570678C= | CA1260104115 | DYSF | c.537C= (p.His179=) c.3111C= (p.His1037=) c.3165C= (p.His1055=) c.3114C= (p.His1038=) c.3162C= (p.His1054=) c.3207C= (p.His1069=) c.3072C= (p.His1024=) c.3204C= (p.His1068=) n.277C= c.3069C= (p.His1023=) n.3365C= | |
2 | g.71570678C>G | CA1706446 | DYSF | c.537C>G (p.His179Gln) c.3111C>G (p.His1037Gln) c.3165C>G (p.His1055Gln) c.3114C>G (p.His1038Gln) c.3162C>G (p.His1054Gln) c.3207C>G (p.His1069Gln) c.3072C>G (p.His1024Gln) c.3204C>G (p.His1068Gln) n.277C>G c.3069C>G (p.His1023Gln) n.3365C>G | dbSNP ExAC gnomAD v4 |
2 | g.71570678C>T | CA426702078 | DYSF | c.537C>T (p.His179=) c.3111C>T (p.His1037=) c.3165C>T (p.His1055=) c.3114C>T (p.His1038=) c.3162C>T (p.His1054=) c.3207C>T (p.His1069=) c.3072C>T (p.His1024=) c.3204C>T (p.His1068=) n.277C>T c.3069C>T (p.His1023=) n.3365C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570679C>A | CA1706447 | DYSF | c.538C>A (p.Arg180=) c.3112C>A (p.Arg1038=) c.3166C>A (p.Arg1056=) c.3115C>A (p.Arg1039=) c.3163C>A (p.Arg1055=) c.3208C>A (p.Arg1070=) c.3073C>A (p.Arg1025=) c.3205C>A (p.Arg1069=) n.278C>A c.3070C>A (p.Arg1024=) n.3366C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570679C= | CA1260104116 | DYSF | c.538C= (p.Arg180=) c.3112C= (p.Arg1038=) c.3166C= (p.Arg1056=) c.3115C= (p.Arg1039=) c.3163C= (p.Arg1055=) c.3208C= (p.Arg1070=) c.3073C= (p.Arg1025=) c.3205C= (p.Arg1069=) n.278C= c.3070C= (p.Arg1024=) n.3366C= | |
2 | g.71570679C>G | CA347217057 | DYSF | c.538C>G (p.Arg180Gly) c.3112C>G (p.Arg1038Gly) c.3166C>G (p.Arg1056Gly) c.3115C>G (p.Arg1039Gly) c.3163C>G (p.Arg1055Gly) c.3208C>G (p.Arg1070Gly) c.3073C>G (p.Arg1025Gly) c.3205C>G (p.Arg1069Gly) n.278C>G c.3070C>G (p.Arg1024Gly) n.3366C>G | |
2 | g.71570679C>T | CA277609 | DYSF | c.538C>T (p.Arg180Ter) c.3112C>T (p.Arg1038Ter) c.3166C>T (p.Arg1056Ter) c.3115C>T (p.Arg1039Ter) c.3163C>T (p.Arg1055Ter) c.3208C>T (p.Arg1070Ter) c.3073C>T (p.Arg1025Ter) c.3205C>T (p.Arg1069Ter) n.278C>T c.3070C>T (p.Arg1024Ter) n.3366C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71570680G>A | CA1706448 | DYSF | c.539G>A (p.Arg180Gln) c.3113G>A (p.Arg1038Gln) c.3167G>A (p.Arg1056Gln) c.3116G>A (p.Arg1039Gln) c.3164G>A (p.Arg1055Gln) c.3209G>A (p.Arg1070Gln) c.3074G>A (p.Arg1025Gln) c.3206G>A (p.Arg1069Gln) n.279G>A c.3071G>A (p.Arg1024Gln) n.3367G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71570680G>C | CA347217058 | DYSF | c.539G>C (p.Arg180Pro) c.3113G>C (p.Arg1038Pro) c.3167G>C (p.Arg1056Pro) c.3116G>C (p.Arg1039Pro) c.3164G>C (p.Arg1055Pro) c.3209G>C (p.Arg1070Pro) c.3074G>C (p.Arg1025Pro) c.3206G>C (p.Arg1069Pro) n.279G>C c.3071G>C (p.Arg1024Pro) n.3367G>C | ClinVar dbSNP gnomAD v4 |
2 | g.71570680G= | CA1260104117 | DYSF | c.539G= (p.Arg180=) c.3113G= (p.Arg1038=) c.3167G= (p.Arg1056=) c.3116G= (p.Arg1039=) c.3164G= (p.Arg1055=) c.3209G= (p.Arg1070=) c.3074G= (p.Arg1025=) c.3206G= (p.Arg1069=) n.279G= c.3071G= (p.Arg1024=) n.3367G= | |
2 | g.71570680G>T | CA347217059 | DYSF | c.539G>T (p.Arg180Leu) c.3113G>T (p.Arg1038Leu) c.3167G>T (p.Arg1056Leu) c.3116G>T (p.Arg1039Leu) c.3164G>T (p.Arg1055Leu) c.3209G>T (p.Arg1070Leu) c.3074G>T (p.Arg1025Leu) c.3206G>T (p.Arg1069Leu) n.279G>T c.3071G>T (p.Arg1024Leu) n.3367G>T | |
2 | g.71570681A= | CA1260104118 | DYSF | c.540A= (p.Arg180=) c.3114A= (p.Arg1038=) c.3168A= (p.Arg1056=) c.3117A= (p.Arg1039=) c.3165A= (p.Arg1055=) c.3210A= (p.Arg1070=) c.3075A= (p.Arg1025=) c.3207A= (p.Arg1069=) n.280A= c.3072A= (p.Arg1024=) n.3368A= | |
2 | g.71570681A>C | CA426702079 | DYSF | c.540A>C (p.Arg180=) c.3114A>C (p.Arg1038=) c.3168A>C (p.Arg1056=) c.3117A>C (p.Arg1039=) c.3165A>C (p.Arg1055=) c.3210A>C (p.Arg1070=) c.3075A>C (p.Arg1025=) c.3207A>C (p.Arg1069=) n.280A>C c.3072A>C (p.Arg1024=) n.3368A>C | gnomAD v4 |
2 | g.71570681A>G | CA1706449 | DYSF | c.540A>G (p.Arg180=) c.3114A>G (p.Arg1038=) c.3168A>G (p.Arg1056=) c.3117A>G (p.Arg1039=) c.3165A>G (p.Arg1055=) c.3210A>G (p.Arg1070=) c.3075A>G (p.Arg1025=) c.3207A>G (p.Arg1069=) n.280A>G c.3072A>G (p.Arg1024=) n.3368A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71570681A>T | CA426702080 | DYSF | c.540A>T (p.Arg180=) c.3114A>T (p.Arg1038=) c.3168A>T (p.Arg1056=) c.3117A>T (p.Arg1039=) c.3165A>T (p.Arg1055=) c.3210A>T (p.Arg1070=) c.3075A>T (p.Arg1025=) c.3207A>T (p.Arg1069=) n.280A>T c.3072A>T (p.Arg1024=) n.3368A>T | |
2 | g.71570682C>A | CA426702081 | DYSF | c.541C>A (p.Arg181=) c.3115C>A (p.Arg1039=) c.3169C>A (p.Arg1057=) c.3118C>A (p.Arg1040=) c.3166C>A (p.Arg1056=) c.3211C>A (p.Arg1071=) c.3076C>A (p.Arg1026=) c.3208C>A (p.Arg1070=) n.281C>A c.3073C>A (p.Arg1025=) n.3369C>A | |
2 | g.71570682C= | CA1260104119 | DYSF | c.541C= (p.Arg181=) c.3115C= (p.Arg1039=) c.3169C= (p.Arg1057=) c.3118C= (p.Arg1040=) c.3166C= (p.Arg1056=) c.3211C= (p.Arg1071=) c.3076C= (p.Arg1026=) c.3208C= (p.Arg1070=) n.281C= c.3073C= (p.Arg1025=) n.3369C= | |
2 | g.71570682C>G | CA347217060 | DYSF | c.541C>G (p.Arg181Gly) c.3115C>G (p.Arg1039Gly) c.3169C>G (p.Arg1057Gly) c.3118C>G (p.Arg1040Gly) c.3166C>G (p.Arg1056Gly) c.3211C>G (p.Arg1071Gly) c.3076C>G (p.Arg1026Gly) c.3208C>G (p.Arg1070Gly) n.281C>G c.3073C>G (p.Arg1025Gly) n.3369C>G | |
2 | g.71570682C>T | CA1706450 | DYSF | c.541C>T (p.Arg181Trp) c.3115C>T (p.Arg1039Trp) c.3169C>T (p.Arg1057Trp) c.3118C>T (p.Arg1040Trp) c.3166C>T (p.Arg1056Trp) c.3211C>T (p.Arg1071Trp) c.3076C>T (p.Arg1026Trp) c.3208C>T (p.Arg1070Trp) n.281C>T c.3073C>T (p.Arg1025Trp) n.3369C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570682_71570685dup | CA2586969480 | DYSF | c.541_544dup (p.Arg182ProfsTer?) c.3115_3118dup (p.Arg1040ProfsTer?) c.3169_3172dup (p.Arg1058ProfsTer?) c.3118_3121dup (p.Arg1041ProfsTer?) c.3166_3169dup (p.Arg1057ProfsTer?) c.3211_3214dup (p.Arg1072ProfsTer?) c.3076_3079dup (p.Arg1027ProfsTer?) c.3208_3211dup (p.Arg1071ProfsTer?) n.281_284dup c.3073_3076dup (p.Arg1026ProfsTer?) n.3369_3372dup | |
2 | g.71570683G>A | CA1706451 | DYSF | c.542G>A (p.Arg181Gln) c.3116G>A (p.Arg1039Gln) c.3170G>A (p.Arg1057Gln) c.3119G>A (p.Arg1040Gln) c.3167G>A (p.Arg1056Gln) c.3212G>A (p.Arg1071Gln) c.3077G>A (p.Arg1026Gln) c.3209G>A (p.Arg1070Gln) n.282G>A c.3074G>A (p.Arg1025Gln) n.3370G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570683G>C | CA347217061 | DYSF | c.542G>C (p.Arg181Pro) c.3116G>C (p.Arg1039Pro) c.3170G>C (p.Arg1057Pro) c.3119G>C (p.Arg1040Pro) c.3167G>C (p.Arg1056Pro) c.3212G>C (p.Arg1071Pro) c.3077G>C (p.Arg1026Pro) c.3209G>C (p.Arg1070Pro) n.282G>C c.3074G>C (p.Arg1025Pro) n.3370G>C | |
2 | g.71570683G= | CA1260104120 | DYSF | c.542G= (p.Arg181=) c.3116G= (p.Arg1039=) c.3170G= (p.Arg1057=) c.3119G= (p.Arg1040=) c.3167G= (p.Arg1056=) c.3212G= (p.Arg1071=) c.3077G= (p.Arg1026=) c.3209G= (p.Arg1070=) n.282G= c.3074G= (p.Arg1025=) n.3370G= | |
2 | g.71570683G>T | CA347217062 | DYSF | c.542G>T (p.Arg181Leu) c.3116G>T (p.Arg1039Leu) c.3170G>T (p.Arg1057Leu) c.3119G>T (p.Arg1040Leu) c.3167G>T (p.Arg1056Leu) c.3212G>T (p.Arg1071Leu) c.3077G>T (p.Arg1026Leu) c.3209G>T (p.Arg1070Leu) n.282G>T c.3074G>T (p.Arg1025Leu) n.3370G>T | ClinVar |
2 | g.71570684G>A | CA1706452 | DYSF | c.543G>A (p.Arg181=) c.3117G>A (p.Arg1039=) c.3171G>A (p.Arg1057=) c.3120G>A (p.Arg1040=) c.3168G>A (p.Arg1056=) c.3213G>A (p.Arg1071=) c.3078G>A (p.Arg1026=) c.3210G>A (p.Arg1070=) n.283G>A c.3075G>A (p.Arg1025=) n.3371G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570684G>C | CA426702082 | DYSF | c.543G>C (p.Arg181=) c.3117G>C (p.Arg1039=) c.3171G>C (p.Arg1057=) c.3120G>C (p.Arg1040=) c.3168G>C (p.Arg1056=) c.3213G>C (p.Arg1071=) c.3078G>C (p.Arg1026=) c.3210G>C (p.Arg1070=) n.283G>C c.3075G>C (p.Arg1025=) n.3371G>C | |
2 | g.71570684G= | CA1260104121 | DYSF | c.543G= (p.Arg181=) c.3117G= (p.Arg1039=) c.3171G= (p.Arg1057=) c.3120G= (p.Arg1040=) c.3168G= (p.Arg1056=) c.3213G= (p.Arg1071=) c.3078G= (p.Arg1026=) c.3210G= (p.Arg1070=) n.283G= c.3075G= (p.Arg1025=) n.3371G= | |
2 | g.71570684G>T | CA426702083 | DYSF | c.543G>T (p.Arg181=) c.3117G>T (p.Arg1039=) c.3171G>T (p.Arg1057=) c.3120G>T (p.Arg1040=) c.3168G>T (p.Arg1056=) c.3213G>T (p.Arg1071=) c.3078G>T (p.Arg1026=) c.3210G>T (p.Arg1070=) n.283G>T c.3075G>T (p.Arg1025=) n.3371G>T | |
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.71570685del | CA2659549636 | DYSF | c.544del (p.Arg182GlyfsTer17) c.3118del (p.Arg1040GlyfsTer17) c.3172del (p.Arg1058GlyfsTer17) c.3121del (p.Arg1041GlyfsTer17) c.3169del (p.Arg1057GlyfsTer17) c.3214del (p.Arg1072GlyfsTer17) c.3079del (p.Arg1027GlyfsTer17) c.3211del (p.Arg1071GlyfsTer17) n.284del c.3076del (p.Arg1026GlyfsTer17) n.3372del | gnomAD v4 |
2 | g.71570685C>A | CA426702084 | DYSF | c.544C>A (p.Arg182=) c.3118C>A (p.Arg1040=) c.3172C>A (p.Arg1058=) c.3121C>A (p.Arg1041=) c.3169C>A (p.Arg1057=) c.3214C>A (p.Arg1072=) c.3079C>A (p.Arg1027=) c.3211C>A (p.Arg1071=) n.284C>A c.3076C>A (p.Arg1026=) n.3372C>A | COSMIC |
2 | g.71570685C= | CA1260104122 | DYSF | c.544C= (p.Arg182=) c.3118C= (p.Arg1040=) c.3172C= (p.Arg1058=) c.3121C= (p.Arg1041=) c.3169C= (p.Arg1057=) c.3214C= (p.Arg1072=) c.3079C= (p.Arg1027=) c.3211C= (p.Arg1071=) n.284C= c.3076C= (p.Arg1026=) n.3372C= | |
2 | g.71570685C>G | CA347217063 | DYSF | c.544C>G (p.Arg182Gly) c.3118C>G (p.Arg1040Gly) c.3172C>G (p.Arg1058Gly) c.3121C>G (p.Arg1041Gly) c.3169C>G (p.Arg1057Gly) c.3214C>G (p.Arg1072Gly) c.3079C>G (p.Arg1027Gly) c.3211C>G (p.Arg1071Gly) n.284C>G c.3076C>G (p.Arg1026Gly) n.3372C>G | |
2 | g.71570685C>T | CA347217064 | DYSF | c.544C>T (p.Arg182Trp) c.3118C>T (p.Arg1040Trp) c.3172C>T (p.Arg1058Trp) c.3121C>T (p.Arg1041Trp) c.3169C>T (p.Arg1057Trp) c.3214C>T (p.Arg1072Trp) c.3079C>T (p.Arg1027Trp) c.3211C>T (p.Arg1071Trp) n.284C>T c.3076C>T (p.Arg1026Trp) n.3372C>T | ClinVar dbSNP gnomAD v4 |
2 | g.71570686G>A | CA1706453 | DYSF | c.545G>A (p.Arg182Gln) c.3119G>A (p.Arg1040Gln) c.3173G>A (p.Arg1058Gln) c.3122G>A (p.Arg1041Gln) c.3170G>A (p.Arg1057Gln) c.3215G>A (p.Arg1072Gln) c.3080G>A (p.Arg1027Gln) c.3212G>A (p.Arg1071Gln) n.285G>A c.3077G>A (p.Arg1026Gln) n.3373G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71570686G>C | CA347217065 | DYSF | c.545G>C (p.Arg182Pro) c.3119G>C (p.Arg1040Pro) c.3173G>C (p.Arg1058Pro) c.3122G>C (p.Arg1041Pro) c.3170G>C (p.Arg1057Pro) c.3215G>C (p.Arg1072Pro) c.3080G>C (p.Arg1027Pro) c.3212G>C (p.Arg1071Pro) n.285G>C c.3077G>C (p.Arg1026Pro) n.3373G>C | |
2 | g.71570686G= | CA1260104123 | DYSF | c.545G= (p.Arg182=) c.3119G= (p.Arg1040=) c.3173G= (p.Arg1058=) c.3122G= (p.Arg1041=) c.3170G= (p.Arg1057=) c.3215G= (p.Arg1072=) c.3080G= (p.Arg1027=) c.3212G= (p.Arg1071=) n.285G= c.3077G= (p.Arg1026=) n.3373G= | |
2 | g.71570686G>T | CA347217066 | DYSF | c.545G>T (p.Arg182Leu) c.3119G>T (p.Arg1040Leu) c.3173G>T (p.Arg1058Leu) c.3122G>T (p.Arg1041Leu) c.3170G>T (p.Arg1057Leu) c.3215G>T (p.Arg1072Leu) c.3080G>T (p.Arg1027Leu) c.3212G>T (p.Arg1071Leu) n.285G>T c.3077G>T (p.Arg1026Leu) n.3373G>T | |
2 | g.71570687G>A | CA426702085 | DYSF | c.546G>A (p.Arg182=) c.3120G>A (p.Arg1040=) c.3174G>A (p.Arg1058=) c.3123G>A (p.Arg1041=) c.3171G>A (p.Arg1057=) c.3216G>A (p.Arg1072=) c.3081G>A (p.Arg1027=) c.3213G>A (p.Arg1071=) n.286G>A c.3078G>A (p.Arg1026=) n.3374G>A | |
2 | g.71570687G>C | CA426702086 | DYSF | c.546G>C (p.Arg182=) c.3120G>C (p.Arg1040=) c.3174G>C (p.Arg1058=) c.3123G>C (p.Arg1041=) c.3171G>C (p.Arg1057=) c.3216G>C (p.Arg1072=) c.3081G>C (p.Arg1027=) c.3213G>C (p.Arg1071=) n.286G>C c.3078G>C (p.Arg1026=) n.3374G>C | |
2 | g.71570687G>T | CA426702087 | DYSF | c.546G>T (p.Arg182=) c.3120G>T (p.Arg1040=) c.3174G>T (p.Arg1058=) c.3123G>T (p.Arg1041=) c.3171G>T (p.Arg1057=) c.3216G>T (p.Arg1072=) c.3081G>T (p.Arg1027=) c.3213G>T (p.Arg1071=) n.286G>T c.3078G>T (p.Arg1026=) n.3374G>T | |
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 |