| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.46756451_46756620delinsAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGC | CA2339067617 | FKRP | c.1001_1170delinsAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGC (p.Glu334=) n.247-5382_247-5213delinsAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGC n.247+7786_247+7955delinsAGGCTGCGGGCGTGCGCTACTGGCTCGAGGGCGGCTCACTGCTGGGGGCCGCCCGCCACGGGGACATCATCCCATGGGACTACGACGTGGACCTGGGCATCTACTTGGAGGACGTGGGCAACTGCGAGCAGCTGCGGGGGGCAGAGGCCGGCTCGGTGGTGGATGAGCGC | |
| 19 | g.46756456_46756624del | CA915951961 | FKRP | c.1006_1174del (p.Ala336SerfsTer?) n.247-5377_247-5209del n.247+7791_247+7959del | ClinVar dbSNP |
| 19 | g.46756579C>A | CA406496713 | FKRP | c.1129C>A (p.Gln377Lys) n.247-5254C>A n.247+7914C>A | |
| 19 | g.46756579C>G | CA406496714 | FKRP | c.1129C>G (p.Gln377Glu) n.247-5254C>G n.247+7914C>G | |
| 19 | g.46756579C>T | CA406496715 | FKRP | c.1129C>T (p.Gln377Ter) n.247-5254C>T n.247+7914C>T | |
| 19 | g.46756579_46756589delinsCAGCTGCGGGG | CA2339067696 | FKRP | c.1129_1139delinsCAGCTGCGGGG (p.Gln377=) n.247-5254_247-5244delinsCAGCTGCGGGG n.247+7914_247+7924delinsCAGCTGCGGGG | |
| 19 | g.46756580A>C | CA406496716 | FKRP | c.1130A>C (p.Gln377Pro) n.247-5253A>C n.247+7915A>C | |
| 19 | g.46756580A>G | CA406496717 | FKRP | c.1130A>G (p.Gln377Arg) n.247-5253A>G n.247+7915A>G | ClinVar dbSNP |
| 19 | g.46756580A>T | CA406496718 | FKRP | c.1130A>T (p.Gln377Leu) n.247-5253A>T n.247+7915A>T | |
| 19 | g.46756580_46756589del | CA633484282 | FKRP | c.1130_1139del (p.Gln377ArgfsTer?) n.247-5253_247-5244del n.247+7915_247+7924del | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756581G>A | CA507976124 | FKRP | c.1131G>A (p.Gln377=) n.247-5252G>A n.247+7916G>A | ClinVar dbSNP |
| 19 | g.46756581G>C | CA406496719 | FKRP | c.1131G>C (p.Gln377His) n.247-5252G>C n.247+7916G>C | |
| 19 | g.46756581G>T | CA406496720 | FKRP | c.1131G>T (p.Gln377His) n.247-5252G>T n.247+7916G>T | |
| 19 | g.46756582C>A | CA406496721 | FKRP | c.1132C>A (p.Leu378Met) n.247-5251C>A n.247+7917C>A | |
| 19 | g.46756582C= | CA2339067697 | FKRP | c.1132C= (p.Leu378=) n.247-5251C= n.247+7917C= | |
| 19 | g.46756582C>G | CA406496722 | FKRP | c.1132C>G (p.Leu378Val) n.247-5251C>G n.247+7917C>G | |
| 19 | g.46756582C>T | CA507976125 | FKRP | c.1132C>T (p.Leu378=) n.247-5251C>T n.247+7917C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756583T>A | CA406496723 | FKRP | c.1133T>A (p.Leu378Gln) n.247-5250T>A n.247+7918T>A | |
| 19 | g.46756583T>C | CA406496724 | FKRP | c.1133T>C (p.Leu378Pro) n.247-5250T>C n.247+7918T>C | |
| 19 | g.46756583T>G | CA406496725 | FKRP | c.1133T>G (p.Leu378Arg) n.247-5250T>G n.247+7918T>G | |
| 19 | g.46756584G>A | CA507976129 | FKRP | c.1134G>A (p.Leu378=) n.247-5249G>A n.247+7919G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756584G>C | CA507976130 | FKRP | c.1134G>C (p.Leu378=) n.247-5249G>C n.247+7919G>C | |
| 19 | g.46756584G= | CA2339067698 | FKRP | c.1134G= (p.Leu378=) n.247-5249G= n.247+7919G= | |
| 19 | g.46756584G>T | CA507976131 | FKRP | c.1134G>T (p.Leu378=) n.247-5249G>T n.247+7919G>T | |
| 19 | g.46756585C>A | CA507976132 | FKRP | c.1135C>A (p.Arg379=) n.247-5248C>A n.247+7920C>A | |
| 19 | g.46756585C= | CA2339067699 | FKRP | c.1135C= (p.Arg379=) n.247-5248C= n.247+7920C= | |
| 19 | g.46756585C>G | CA406496726 | FKRP | c.1135C>G (p.Arg379Gly) n.247-5248C>G n.247+7920C>G | dbSNP |
| 19 | g.46756585C>T | CA9532249 | FKRP | c.1135C>T (p.Arg379Trp) n.247-5248C>T n.247+7920C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756585dup | CA913018615 | FKRP | c.1135dup (p.Arg379ProfsTer11) n.247-5248dup n.247+7920dup | |
| 19 | g.46756585_46756586delinsCG | CA2339067700 | FKRP | c.1135_1136delinsCG (p.Arg379=) n.247-5248_247-5247delinsCG n.247+7920_247+7921delinsCG | |
| 19 | g.46756586G>A | CA9532251 | FKRP | c.1136G>A (p.Arg379Gln) n.247-5247G>A n.247+7921G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.46756586G>C | CA309099778 | FKRP | c.1136G>C (p.Arg379Pro) n.247-5247G>C n.247+7921G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756586G= | CA2339067701 | FKRP | c.1136G= (p.Arg379=) n.247-5247G= n.247+7921G= | |
| 19 | g.46756586G>T | CA406496727 | FKRP | c.1136G>T (p.Arg379Leu) n.247-5247G>T n.247+7921G>T | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756591dup | CA9532248 | FKRP | c.1141dup (p.Ala381GlyfsTer9) n.247-5242dup n.247+7926dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756591del | CA9532250 | FKRP | c.1141del (p.Ala381GlnfsTer?) n.247-5242del n.247+7926del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756587G>A | CA507976145 | FKRP | c.1137G>A (p.Arg379=) n.247-5246G>A n.247+7922G>A | dbSNP gnomAD v2 |
| 19 | g.46756587G>C | CA507976147 | FKRP | c.1137G>C (p.Arg379=) n.247-5246G>C n.247+7922G>C | |
| 19 | g.46756587G= | CA2339067702 | FKRP | c.1137G= (p.Arg379=) n.247-5246G= n.247+7922G= | |
| 19 | g.46756587G>T | CA9532252 | FKRP | c.1137G>T (p.Arg379=) n.247-5246G>T n.247+7922G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756588G>A | CA406496728 | FKRP | c.1138G>A (p.Gly380Arg) n.247-5245G>A n.247+7923G>A | |
| 19 | g.46756588G>C | CA9532253 | FKRP | c.1138G>C (p.Gly380Arg) n.247-5245G>C n.247+7923G>C | dbSNP ExAC gnomAD v2 |
| 19 | g.46756588G= | CA2339067703 | FKRP | c.1138G= (p.Gly380=) n.247-5245G= n.247+7923G= | |
| 19 | g.46756588G>T | CA406496729 | FKRP | c.1138G>T (p.Gly380Trp) n.247-5245G>T n.247+7923G>T | |
| 19 | g.46756589G>A | CA9532254 | FKRP | c.1139G>A (p.Gly380Glu) n.247-5244G>A n.247+7924G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756589G>C | CA406496730 | FKRP | c.1139G>C (p.Gly380Ala) n.247-5244G>C n.247+7924G>C | |
| 19 | g.46756589G= | CA2339067704 | FKRP | c.1139G= (p.Gly380=) n.247-5244G= n.247+7924G= | |
| 19 | g.46756589G>T | CA406496731 | FKRP | c.1139G>T (p.Gly380Val) n.247-5244G>T n.247+7924G>T | |
| 19 | g.46756590G>A | CA209044 | FKRP | c.1140G>A (p.Gly380=) n.247-5243G>A n.247+7925G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756590G>C | CA9532255 | FKRP | c.1140G>C (p.Gly380=) n.247-5243G>C n.247+7925G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756590G= | CA2339067705 | FKRP | c.1140G= (p.Gly380=) n.247-5243G= n.247+7925G= | |
| 19 | g.46756590G>T | CA507976154 | FKRP | c.1140G>T (p.Gly380=) n.247-5243G>T n.247+7925G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756591G>A | CA309099802 | FKRP | c.1141G>A (p.Ala381Thr) n.247-5242G>A n.247+7926G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756591G>C | CA406496733 | FKRP | c.1141G>C (p.Ala381Pro) n.247-5242G>C n.247+7926G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756591G= | CA2339067706 | FKRP | c.1141G= (p.Ala381=) n.247-5242G= n.247+7926G= | |
| 19 | g.46756591G>T | CA406496732 | FKRP | c.1141G>T (p.Ala381Ser) n.247-5242G>T n.247+7926G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756592C>A | CA406496734 | FKRP | c.1142C>A (p.Ala381Glu) n.247-5241C>A n.247+7927C>A | |
| 19 | g.46756592C= | CA2339067707 | FKRP | c.1142C= (p.Ala381=) n.247-5241C= n.247+7927C= | |
| 19 | g.46756592C>G | CA406496735 | FKRP | c.1142C>G (p.Ala381Gly) n.247-5241C>G n.247+7927C>G | |
| 19 | g.46756592C>T | CA9532256 | FKRP | c.1142C>T (p.Ala381Val) n.247-5241C>T n.247+7927C>T | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.46756593A>C | CA507976160 | FKRP | c.1143A>C (p.Ala381=) n.247-5240A>C n.247+7928A>C | ClinVar dbSNP |
| 19 | g.46756593A>G | CA507976161 | FKRP | c.1143A>G (p.Ala381=) n.247-5240A>G n.247+7928A>G | |
| 19 | g.46756593A>T | CA507976162 | FKRP | c.1143A>T (p.Ala381=) n.247-5240A>T n.247+7928A>T | |
| 19 | g.46756594G>A | CA309099805 | FKRP | c.1144G>A (p.Glu382Lys) n.247-5239G>A n.247+7929G>A | dbSNP gnomAD v2 |
| 19 | g.46756594G>C | CA406496736 | FKRP | c.1144G>C (p.Glu382Gln) n.247-5239G>C n.247+7929G>C | |
| 19 | g.46756594G= | CA2339067708 | FKRP | c.1144G= (p.Glu382=) n.247-5239G= n.247+7929G= | |
| 19 | g.46756594G>T | CA406496737 | FKRP | c.1144G>T (p.Glu382Ter) n.247-5239G>T n.247+7929G>T | |
| 19 | g.46756595A= | CA2339067709 | FKRP | c.1145A= (p.Glu382=) n.247-5238A= n.247+7930A= | |
| 19 | g.46756595A>C | CA406496738 | FKRP | c.1145A>C (p.Glu382Ala) n.247-5238A>C n.247+7930A>C | |
| 19 | g.46756595A>G | CA406496739 | FKRP | c.1145A>G (p.Glu382Gly) n.247-5238A>G n.247+7930A>G | |
| 19 | g.46756595A>T | CA9532257 | FKRP | c.1145A>T (p.Glu382Val) n.247-5238A>T n.247+7930A>T | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.46756596G>A | CA507976171 | FKRP | c.1146G>A (p.Glu382=) n.247-5237G>A n.247+7931G>A | ClinVar gnomAD v4 |
| 19 | g.46756596G>C | CA406496740 | FKRP | c.1146G>C (p.Glu382Asp) n.247-5237G>C n.247+7931G>C | |
| 19 | g.46756596G>T | CA406496741 | FKRP | c.1146G>T (p.Glu382Asp) n.247-5237G>T n.247+7931G>T | gnomAD v4 |
| 19 | g.46756597G>A | CA406496743 | FKRP | c.1147G>A (p.Ala383Thr) n.247-5236G>A n.247+7932G>A | |
| 19 | g.46756597G>C | CA406496744 | FKRP | c.1147G>C (p.Ala383Pro) n.247-5236G>C n.247+7932G>C | |
| 19 | g.46756597G>T | CA406496742 | FKRP | c.1147G>T (p.Ala383Ser) n.247-5236G>T n.247+7932G>T | |
| 19 | g.46756598C>A | CA406496745 | FKRP | c.1148C>A (p.Ala383Asp) n.247-5235C>A n.247+7933C>A | gnomAD v4 |
| 19 | g.46756598C>G | CA406496746 | FKRP | c.1148C>G (p.Ala383Gly) n.247-5235C>G n.247+7933C>G | |
| 19 | g.46756598C>T | CA406496747 | FKRP | c.1148C>T (p.Ala383Val) n.247-5235C>T n.247+7933C>T | gnomAD v4 |
| 19 | g.46756599C>A | CA507976177 | FKRP | c.1149C>A (p.Ala383=) n.247-5234C>A n.247+7934C>A | dbSNP |
| 19 | g.46756599C= | CA2339067710 | FKRP | c.1149C= (p.Ala383=) n.247-5234C= n.247+7934C= | |
| 19 | g.46756599C>G | CA507976179 | FKRP | c.1149C>G (p.Ala383=) n.247-5234C>G n.247+7934C>G | |
| 19 | g.46756599C>T | CA507976176 | FKRP | c.1149C>T (p.Ala383=) n.247-5234C>T n.247+7934C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756600G>A | CA406496748 | FKRP | c.1150G>A (p.Gly384Ser) n.247-5233G>A n.247+7935G>A | gnomAD v4 |
| 19 | g.46756600G>C | CA406496749 | FKRP | c.1150G>C (p.Gly384Arg) n.247-5233G>C n.247+7935G>C | |
| 19 | g.46756600G>T | CA406496750 | FKRP | c.1150G>T (p.Gly384Cys) n.247-5233G>T n.247+7935G>T | gnomAD v4 |
| 19 | g.46756601G>A | CA406496751 | FKRP | c.1151G>A (p.Gly384Asp) n.247-5232G>A n.247+7936G>A | gnomAD v4 |
| 19 | g.46756601G>C | CA406496752 | FKRP | c.1151G>C (p.Gly384Ala) n.247-5232G>C n.247+7936G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756601G>T | CA406496753 | FKRP | c.1151G>T (p.Gly384Val) n.247-5232G>T n.247+7936G>T | gnomAD v4 |
| 19 | g.46756602C>A | CA507976187 | FKRP | c.1152C>A (p.Gly384=) n.247-5231C>A n.247+7937C>A | |
| 19 | g.46756602C>G | CA507976188 | FKRP | c.1152C>G (p.Gly384=) n.247-5231C>G n.247+7937C>G | |
| 19 | g.46756602C>T | CA507976189 | FKRP | c.1152C>T (p.Gly384=) n.247-5231C>T n.247+7937C>T | |
| 19 | g.46756603T>A | CA406496754 | FKRP | c.1153T>A (p.Ser385Thr) n.247-5230T>A n.247+7938T>A | |
| 19 | g.46756603T>C | CA406496755 | FKRP | c.1153T>C (p.Ser385Pro) n.247-5230T>C n.247+7938T>C | |
| 19 | g.46756603T>G | CA406496756 | FKRP | c.1153T>G (p.Ser385Ala) n.247-5230T>G n.247+7938T>G | |
| 19 | g.46756604C>A | CA116697 | FKRP | c.1154C>A (p.Ser385Ter) n.247-5229C>A n.247+7939C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756604C= | CA2339067711 | FKRP | c.1154C= (p.Ser385=) n.247-5229C= n.247+7939C= | |
| 19 | g.46756604C>G | CA309099824 | FKRP | c.1154C>G (p.Ser385Trp) n.247-5229C>G n.247+7939C>G | dbSNP gnomAD v4 |
| 19 | g.46756604C>T | CA9532258 | FKRP | c.1154C>T (p.Ser385Leu) n.247-5229C>T n.247+7939C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.46756604_46756607delinsCGGT | CA2339067712 | FKRP | c.1154_1157delinsCGGT (p.Ser385=) n.247-5229_247-5226delinsCGGT n.247+7939_247+7942delinsCGGT | |
| 19 | g.46756605G>A | CA16616301 | FKRP | c.1155G>A (p.Ser385=) n.247-5228G>A n.247+7940G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756605G>C | CA507976195 | FKRP | c.1155G>C (p.Ser385=) n.247-5228G>C n.247+7940G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756605G= | CA2339067713 | FKRP | c.1155G= (p.Ser385=) n.247-5228G= n.247+7940G= | |
| 19 | g.46756605G>T | CA507976196 | FKRP | c.1155G>T (p.Ser385=) n.247-5228G>T n.247+7940G>T | ClinVar |
| 19 | g.46756610_46756612del | CA882830649 | FKRP | c.1160_1162del (p.Val387del) n.247-5223_247-5221del n.247+7945_247+7947del | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756606G>A | CA406496757 | FKRP | c.1156G>A (p.Val386Met) n.247-5227G>A n.247+7941G>A | dbSNP |
| 19 | g.46756606G>C | CA406496758 | FKRP | c.1156G>C (p.Val386Leu) n.247-5227G>C n.247+7941G>C | |
| 19 | g.46756606G= | CA2339067714 | FKRP | c.1156G= (p.Val386=) n.247-5227G= n.247+7941G= | |
| 19 | g.46756606G>T | CA406496759 | FKRP | c.1156G>T (p.Val386Leu) n.247-5227G>T n.247+7941G>T | |
| 19 | g.46756607T>A | CA406496760 | FKRP | c.1157T>A (p.Val386Glu) n.247-5226T>A n.247+7942T>A | gnomAD v4 |
| 19 | g.46756607T>C | CA9532259 | FKRP | c.1157T>C (p.Val386Ala) n.247-5226T>C n.247+7942T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756607T>G | CA406496761 | FKRP | c.1157T>G (p.Val386Gly) n.247-5226T>G n.247+7942T>G | dbSNP |
| 19 | g.46756607T= | CA2339067715 | FKRP | c.1157T= (p.Val386=) n.247-5226T= n.247+7942T= | |
| 19 | g.46756608G>A | CA507976200 | FKRP | c.1158G>A (p.Val386=) n.247-5225G>A n.247+7943G>A | |
| 19 | g.46756608G>C | CA9532260 | FKRP | c.1158G>C (p.Val386=) n.247-5225G>C n.247+7943G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756608G= | CA2339067716 | FKRP | c.1158G= (p.Val386=) n.247-5225G= n.247+7943G= | |
| 19 | g.46756608G>T | CA507976201 | FKRP | c.1158G>T (p.Val386=) n.247-5225G>T n.247+7943G>T | ClinVar |
| 19 | g.46756609G>A | CA406496762 | FKRP | c.1159G>A (p.Val387Met) n.247-5224G>A n.247+7944G>A | |
| 19 | g.46756609G>C | CA406496763 | FKRP | c.1159G>C (p.Val387Leu) n.247-5224G>C n.247+7944G>C | |
| 19 | g.46756609G>T | CA406496764 | FKRP | c.1159G>T (p.Val387Leu) n.247-5224G>T n.247+7944G>T | |
| 19 | g.46756610T>A | CA406496765 | FKRP | c.1160T>A (p.Val387Glu) n.247-5223T>A n.247+7945T>A | |
| 19 | g.46756610T>C | CA9532261 | FKRP | c.1160T>C (p.Val387Ala) n.247-5223T>C n.247+7945T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756610T>G | CA406496766 | FKRP | c.1160T>G (p.Val387Gly) n.247-5223T>G n.247+7945T>G | dbSNP |
| 19 | g.46756610T= | CA2339067717 | FKRP | c.1160T= (p.Val387=) n.247-5223T= n.247+7945T= | |
| 19 | g.46756611G>A | CA507976206 | FKRP | c.1161G>A (p.Val387=) n.247-5222G>A n.247+7946G>A | ClinVar |
| 19 | g.46756611G>C | CA507976207 | FKRP | c.1161G>C (p.Val387=) n.247-5222G>C n.247+7946G>C | |
| 19 | g.46756611G>T | CA507976209 | FKRP | c.1161G>T (p.Val387=) n.247-5222G>T n.247+7946G>T | |
| 19 | g.46756612G>A | CA9532262 | FKRP | c.1162G>A (p.Asp388Asn) n.247-5221G>A n.247+7947G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756612G>C | CA406496768 | FKRP | c.1162G>C (p.Asp388His) n.247-5221G>C n.247+7947G>C | COSMIC |
| 19 | g.46756612G= | CA2339067718 | FKRP | c.1162G= (p.Asp388=) n.247-5221G= n.247+7947G= | |
| 19 | g.46756612G>T | CA406496767 | FKRP | c.1162G>T (p.Asp388Tyr) n.247-5221G>T n.247+7947G>T | |
| 19 | g.46756613A= | CA2339067719 | FKRP | c.1163A= (p.Asp388=) n.247-5220A= n.247+7948A= | |
| 19 | g.46756613A>C | CA406496769 | FKRP | c.1163A>C (p.Asp388Ala) n.247-5220A>C n.247+7948A>C | |
| 19 | g.46756613A>G | CA406496771 | FKRP | c.1163A>G (p.Asp388Gly) n.247-5220A>G n.247+7948A>G | dbSNP |
| 19 | g.46756613A>T | CA406496770 | FKRP | c.1163A>T (p.Asp388Val) n.247-5220A>T n.247+7948A>T | |
| 19 | g.46756614T>A | CA406496772 | FKRP | c.1164T>A (p.Asp388Glu) n.247-5219T>A n.247+7949T>A | |
| 19 | g.46756614T>C | CA507976210 | FKRP | c.1164T>C (p.Asp388=) n.247-5219T>C n.247+7949T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756614T>G | CA406496773 | FKRP | c.1164T>G (p.Asp388Glu) n.247-5219T>G n.247+7949T>G | |
| 19 | g.46756615G>A | CA406496774 | FKRP | c.1165G>A (p.Glu389Lys) n.247-5218G>A n.247+7950G>A | |
| 19 | g.46756615G>C | CA406496776 | FKRP | c.1165G>C (p.Glu389Gln) n.247-5218G>C n.247+7950G>C | |
| 19 | g.46756615G>T | CA406496775 | FKRP | c.1165G>T (p.Glu389Ter) n.247-5218G>T n.247+7950G>T | |
| 19 | g.46756616A>C | CA406496777 | FKRP | c.1166A>C (p.Glu389Ala) n.247-5217A>C n.247+7951A>C | gnomAD v4 |
| 19 | g.46756616A>G | CA406496779 | FKRP | c.1166A>G (p.Glu389Gly) n.247-5217A>G n.247+7951A>G | |
| 19 | g.46756616A>T | CA406496778 | FKRP | c.1166A>T (p.Glu389Val) n.247-5217A>T n.247+7951A>T | |
| 19 | g.46756616_46756618del | CA913018616 | FKRP | c.1166_1168del (p.Glu389_Arg390delinsGly) n.247-5217_247-5215del n.247+7951_247+7953del | |
| 19 | g.46756616_46756618delinsAGC | CA2339067720 | FKRP | c.1166_1168delinsAGC (p.Glu389=) n.247-5217_247-5215delinsAGC n.247+7951_247+7953delinsAGC | |
| 19 | g.46756617G>A | CA9532264 | FKRP | c.1167G>A (p.Glu389=) n.247-5216G>A n.247+7952G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756617G>C | CA406496780 | FKRP | c.1167G>C (p.Glu389Asp) n.247-5216G>C n.247+7952G>C | |
| 19 | g.46756617G= | CA2339067721 | FKRP | c.1167G= (p.Glu389=) n.247-5216G= n.247+7952G= | |
| 19 | g.46756617G>T | CA406496781 | FKRP | c.1167G>T (p.Glu389Asp) n.247-5216G>T n.247+7952G>T | |
| 19 | g.46756620_46756621del | CA9532263 | FKRP | c.1170_1171del (p.Gly391LeufsTer?) n.247-5213_247-5212del n.247+7955_247+7956del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756618_46756627dup | CA2585987500 | FKRP | c.1168_1177dup (p.Val393AlafsTer?) n.247-5215_247-5206dup n.247+7953_247+7962dup | ClinVar gnomAD v4 |
| 19 | g.46756618C>A | CA406496782 | FKRP | c.1168C>A (p.Arg390Ser) n.247-5215C>A n.247+7953C>A | |
| 19 | g.46756618C>G | CA406496783 | FKRP | c.1168C>G (p.Arg390Gly) n.247-5215C>G n.247+7953C>G | ClinVar dbSNP |
| 19 | g.46756618C>T | CA406496784 | FKRP | c.1168C>T (p.Arg390Cys) n.247-5215C>T n.247+7953C>T | gnomAD v4 COSMIC |
| 19 | g.46756619G>A | CA406496785 | FKRP | c.1169G>A (p.Arg390His) n.247-5214G>A n.247+7954G>A | gnomAD v4 |
| 19 | g.46756619G>C | CA406496786 | FKRP | c.1169G>C (p.Arg390Pro) n.247-5214G>C n.247+7954G>C | |
| 19 | g.46756619G>T | CA406496787 | FKRP | c.1169G>T (p.Arg390Leu) n.247-5214G>T n.247+7954G>T | COSMIC |
| 19 | g.46756620C>A | CA507976211 | FKRP | c.1170C>A (p.Arg390=) n.247-5213C>A n.247+7955C>A | |
| 19 | g.46756620C= | CA2339067722 | FKRP | c.1170C= (p.Arg390=) n.247-5213C= n.247+7955C= | |
| 19 | g.46756620C>G | CA507976212 | FKRP | c.1170C>G (p.Arg390=) n.247-5213C>G n.247+7955C>G | |
| 19 | g.46756620C>T | CA507976213 | FKRP | c.1170C>T (p.Arg390=) n.247-5213C>T n.247+7955C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756621G>A | CA9532266 | FKRP | c.1171G>A (p.Gly391Ser) n.247-5212G>A n.247+7956G>A | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.46756621G>C | CA9532265 | FKRP | c.1171G>C (p.Gly391Arg) n.247-5212G>C n.247+7956G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756621G= | CA2339067723 | FKRP | c.1171G= (p.Gly391=) n.247-5212G= n.247+7956G= | |
| 19 | g.46756621G>T | CA406496788 | FKRP | c.1171G>T (p.Gly391Cys) n.247-5212G>T n.247+7956G>T | gnomAD v4 |
| 19 | g.46756622G>A | CA406496791 | FKRP | c.1172G>A (p.Gly391Asp) n.247-5211G>A n.247+7957G>A | |
| 19 | g.46756622G>C | CA406496790 | FKRP | c.1172G>C (p.Gly391Ala) n.247-5211G>C n.247+7957G>C | gnomAD v4 |
| 19 | g.46756622G= | CA2339067724 | FKRP | c.1172G= (p.Gly391=) n.247-5211G= n.247+7957G= | |
| 19 | g.46756622G>T | CA406496789 | FKRP | c.1172G>T (p.Gly391Val) n.247-5211G>T n.247+7957G>T | gnomAD v4 |
| 19 | g.46756623C>A | CA507976214 | FKRP | c.1173C>A (p.Gly391=) n.247-5210C>A n.247+7958C>A | |
| 19 | g.46756623C= | CA2339067725 | FKRP | c.1173C= (p.Gly391=) n.247-5210C= n.247+7958C= | |
| 19 | g.46756623C>G | CA507976215 | FKRP | c.1173C>G (p.Gly391=) n.247-5210C>G n.247+7958C>G | |
| 19 | g.46756623C>T | CA507976216 | FKRP | c.1173C>T (p.Gly391=) n.247-5210C>T n.247+7958C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756623_46756624dup | CA406496792 | FKRP | c.1173_1174dup (p.Phe392SerfsTer?) n.247-5210_247-5209dup n.247+7958_247+7959dup | dbSNP |
| 19 | g.46756624T>A | CA406496793 | FKRP | c.1174T>A (p.Phe392Ile) n.247-5209T>A n.247+7959T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756624T>C | CA406496794 | FKRP | c.1174T>C (p.Phe392Leu) n.247-5209T>C n.247+7959T>C | |
| 19 | g.46756624T>G | CA406496795 | FKRP | c.1174T>G (p.Phe392Val) n.247-5209T>G n.247+7959T>G | |
| 19 | g.46756624T= | CA2339067726 | FKRP | c.1174T= (p.Phe392=) n.247-5209T= n.247+7959T= | |
| 19 | g.46756625T>A | CA406496796 | FKRP | c.1175T>A (p.Phe392Tyr) n.247-5208T>A n.247+7960T>A | |
| 19 | g.46756625T>C | CA406496797 | FKRP | c.1175T>C (p.Phe392Ser) n.247-5208T>C n.247+7960T>C | |
| 19 | g.46756625T>G | CA406496798 | FKRP | c.1175T>G (p.Phe392Cys) n.247-5208T>G n.247+7960T>G | |
| 19 | g.46756626C>A | CA406496799 | FKRP | c.1176C>A (p.Phe392Leu) n.247-5207C>A n.247+7961C>A | |
| 19 | g.46756626C= | CA2339067727 | FKRP | c.1176C= (p.Phe392=) n.247-5207C= n.247+7961C= | |
| 19 | g.46756626C>G | CA406496800 | FKRP | c.1176C>G (p.Phe392Leu) n.247-5207C>G n.247+7961C>G | gnomAD v4 |
| 19 | g.46756626C>T | CA9532267 | FKRP | c.1176C>T (p.Phe392=) n.247-5207C>T n.247+7961C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756627G>A | CA205982 | FKRP | c.1177G>A (p.Val393Ile) n.247-5206G>A n.247+7962G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756627G>C | CA9532268 | FKRP | c.1177G>C (p.Val393Leu) n.247-5206G>C n.247+7962G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756627G= | CA2339067728 | FKRP | c.1177G= (p.Val393=) n.247-5206G= n.247+7962G= | |
| 19 | g.46756627G>T | CA9532269 | FKRP | c.1177G>T (p.Val393Leu) n.247-5206G>T n.247+7962G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756628T>A | CA406496802 | FKRP | c.1178T>A (p.Val393Glu) n.247-5205T>A n.247+7963T>A | gnomAD v4 |
| 19 | g.46756628T>C | CA406496803 | FKRP | c.1178T>C (p.Val393Ala) n.247-5205T>C n.247+7963T>C | |
| 19 | g.46756628T>G | CA406496801 | FKRP | c.1178T>G (p.Val393Gly) n.247-5205T>G n.247+7963T>G | |
| 19 | g.46756629A= | CA2339067729 | FKRP | c.1179A= (p.Val393=) n.247-5204A= n.247+7964A= | |
| 19 | g.46756629A>C | CA507976224 | FKRP | c.1179A>C (p.Val393=) n.247-5204A>C n.247+7964A>C | ClinVar |
| 19 | g.46756629A>G | CA202832 | FKRP | c.1179A>G (p.Val393=) n.247-5204A>G n.247+7964A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756629A>T | CA507976223 | FKRP | c.1179A>T (p.Val393=) n.247-5204A>T n.247+7964A>T | |
| 19 | g.46756630T>A | CA406496804 | FKRP | c.1180T>A (p.Trp394Arg) n.247-5203T>A n.247+7965T>A | |
| 19 | g.46756630T>C | CA406496805 | FKRP | c.1180T>C (p.Trp394Arg) n.247-5203T>C n.247+7965T>C | |
| 19 | g.46756630T>G | CA406496806 | FKRP | c.1180T>G (p.Trp394Gly) n.247-5203T>G n.247+7965T>G | |
| 19 | g.46756631G>A | CA406496807 | FKRP | c.1181G>A (p.Trp394Ter) n.247-5202G>A n.247+7966G>A | |
| 19 | g.46756631G>C | CA406496808 | FKRP | c.1181G>C (p.Trp394Ser) n.247-5202G>C n.247+7966G>C | |
| 19 | g.46756631G>T | CA406496809 | FKRP | c.1181G>T (p.Trp394Leu) n.247-5202G>T n.247+7966G>T | ClinVar |
| 19 | g.46756632G>A | CA406496810 | FKRP | c.1182G>A (p.Trp394Ter) n.247-5201G>A n.247+7967G>A | |
| 19 | g.46756632G>C | CA406496811 | FKRP | c.1182G>C (p.Trp394Cys) n.247-5201G>C n.247+7967G>C | |
| 19 | g.46756632G>T | CA406496812 | FKRP | c.1182G>T (p.Trp394Cys) n.247-5201G>T n.247+7967G>T | |
| 19 | g.46756633G>A | CA9532270 | FKRP | c.1183G>A (p.Glu395Lys) n.247-5200G>A n.247+7968G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756633G>C | CA406496813 | FKRP | c.1183G>C (p.Glu395Gln) n.247-5200G>C n.247+7968G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756633G= | CA2339067730 | FKRP | c.1183G= (p.Glu395=) n.247-5200G= n.247+7968G= | |
| 19 | g.46756633G>T | CA406496814 | FKRP | c.1183G>T (p.Glu395Ter) n.247-5200G>T n.247+7968G>T | |
| 19 | g.46756634A>C | CA406496815 | FKRP | c.1184A>C (p.Glu395Ala) n.247-5199A>C n.247+7969A>C | |
| 19 | g.46756634A>G | CA406496817 | FKRP | c.1184A>G (p.Glu395Gly) n.247-5199A>G n.247+7969A>G | |
| 19 | g.46756634A>T | CA406496816 | FKRP | c.1184A>T (p.Glu395Val) n.247-5199A>T n.247+7969A>T | gnomAD v4 |
| 19 | g.46756635G>A | CA507976231 | FKRP | c.1185G>A (p.Glu395=) n.247-5198G>A n.247+7970G>A | |
| 19 | g.46756635G>C | CA406496818 | FKRP | c.1185G>C (p.Glu395Asp) n.247-5198G>C n.247+7970G>C | |
| 19 | g.46756635G= | CA2339067731 | FKRP | c.1185G= (p.Glu395=) n.247-5198G= n.247+7970G= | |
| 19 | g.46756635G>T | CA406496819 | FKRP | c.1185G>T (p.Glu395Asp) n.247-5198G>T n.247+7970G>T | |
| 19 | g.46756636A>C | CA406496820 | FKRP | c.1186A>C (p.Lys396Gln) n.247-5197A>C n.247+7971A>C | |
| 19 | g.46756636A>G | CA406496821 | FKRP | c.1186A>G (p.Lys396Glu) n.247-5197A>G n.247+7971A>G | |
| 19 | g.46756636A>T | CA406496822 | FKRP | c.1186A>T (p.Lys396Ter) n.247-5197A>T n.247+7971A>T | |
| 19 | g.46756637dup | CA9532271 | FKRP | c.1187dup (p.Ala397GlyfsTer?) n.247-5196dup n.247+7972dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756637A>C | CA406496823 | FKRP | c.1187A>C (p.Lys396Thr) n.247-5196A>C n.247+7972A>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756637A>G | CA406496824 | FKRP | c.1187A>G (p.Lys396Arg) n.247-5196A>G n.247+7972A>G | |
| 19 | g.46756637A>T | CA406496825 | FKRP | c.1187A>T (p.Lys396Met) n.247-5196A>T n.247+7972A>T | |
| 19 | g.46756638G>A | CA507976236 | FKRP | c.1188G>A (p.Lys396=) n.247-5195G>A n.247+7973G>A | |
| 19 | g.46756638G>C | CA406496826 | FKRP | c.1188G>C (p.Lys396Asn) n.247-5195G>C n.247+7973G>C | |
| 19 | g.46756638G>T | CA406496827 | FKRP | c.1188G>T (p.Lys396Asn) n.247-5195G>T n.247+7973G>T | |
| 19 | g.46756639G>A | CA406496830 | FKRP | c.1189G>A (p.Ala397Thr) n.247-5194G>A n.247+7974G>A | |
| 19 | g.46756639G>C | CA406496829 | FKRP | c.1189G>C (p.Ala397Pro) n.247-5194G>C n.247+7974G>C | |
| 19 | g.46756639G>T | CA406496828 | FKRP | c.1189G>T (p.Ala397Ser) n.247-5194G>T n.247+7974G>T | |
| 19 | g.46756640C>A | CA406496832 | FKRP | c.1190C>A (p.Ala397Glu) n.247-5193C>A n.247+7975C>A | gnomAD v4 |
| 19 | g.46756640C= | CA2339067732 | FKRP | c.1190C= (p.Ala397=) n.247-5193C= n.247+7975C= | |
| 19 | g.46756640C>G | CA406496831 | FKRP | c.1190C>G (p.Ala397Gly) n.247-5193C>G n.247+7975C>G | |
| 19 | g.46756640C>T | CA9532272 | FKRP | c.1190C>T (p.Ala397Val) n.247-5193C>T n.247+7975C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756641G>A | CA9532273 | FKRP | c.1191G>A (p.Ala397=) n.247-5192G>A n.247+7976G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756641G>C | CA507976244 | FKRP | c.1191G>C (p.Ala397=) n.247-5192G>C n.247+7976G>C | ClinVar dbSNP |
| 19 | g.46756641G= | CA2339067733 | FKRP | c.1191G= (p.Ala397=) n.247-5192G= n.247+7976G= | |
| 19 | g.46756641G>T | CA16608281 | FKRP | c.1191G>T (p.Ala397=) n.247-5192G>T n.247+7976G>T | ClinVar dbSNP |
| 19 | g.46756642G>A | CA406496833 | FKRP | c.1192G>A (p.Val398Ile) n.247-5191G>A n.247+7977G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756642G>C | CA406496834 | FKRP | c.1192G>C (p.Val398Leu) n.247-5191G>C n.247+7977G>C | |
| 19 | g.46756642G= | CA2339067734 | FKRP | c.1192G= (p.Val398=) n.247-5191G= n.247+7977G= | |
| 19 | g.46756642G>T | CA406496835 | FKRP | c.1192G>T (p.Val398Phe) n.247-5191G>T n.247+7977G>T | |
| 19 | g.46756643T>A | CA406496836 | FKRP | c.1193T>A (p.Val398Asp) n.247-5190T>A n.247+7978T>A | |
| 19 | g.46756643T>C | CA406496837 | FKRP | c.1193T>C (p.Val398Ala) n.247-5190T>C n.247+7978T>C | gnomAD v4 |
| 19 | g.46756643T>G | CA406496838 | FKRP | c.1193T>G (p.Val398Gly) n.247-5190T>G n.247+7978T>G | |
| 19 | g.46756644C>A | CA507976247 | FKRP | c.1194C>A (p.Val398=) n.247-5189C>A n.247+7979C>A | |
| 19 | g.46756644C= | CA2339067735 | FKRP | c.1194C= (p.Val398=) n.247-5189C= n.247+7979C= | |
| 19 | g.46756644C>G | CA507976250 | FKRP | c.1194C>G (p.Val398=) n.247-5189C>G n.247+7979C>G | |
| 19 | g.46756644C>T | CA9532274 | FKRP | c.1194C>T (p.Val398=) n.247-5189C>T n.247+7979C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756645G>A | CA406496839 | FKRP | c.1195G>A (p.Glu399Lys) n.247-5188G>A n.247+7980G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756645G>C | CA406496840 | FKRP | c.1195G>C (p.Glu399Gln) n.247-5188G>C n.247+7980G>C | |
| 19 | g.46756645G= | CA2339067736 | FKRP | c.1195G= (p.Glu399=) n.247-5188G= n.247+7980G= | |
| 19 | g.46756645G>T | CA406496841 | FKRP | c.1195G>T (p.Glu399Ter) n.247-5188G>T n.247+7980G>T | |
| 19 | g.46756646A>C | CA406496842 | FKRP | c.1196A>C (p.Glu399Ala) n.247-5187A>C n.247+7981A>C | |
| 19 | g.46756646A>G | CA406496843 | FKRP | c.1196A>G (p.Glu399Gly) n.247-5187A>G n.247+7981A>G | gnomAD v4 |
| 19 | g.46756646A>T | CA406496844 | FKRP | c.1196A>T (p.Glu399Val) n.247-5187A>T n.247+7981A>T | |
| 19 | g.46756647G>A | CA507976253 | FKRP | c.1197G>A (p.Glu399=) n.247-5186G>A n.247+7982G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.46756647G>C | CA406496845 | FKRP | c.1197G>C (p.Glu399Asp) n.247-5186G>C n.247+7982G>C | |
| 19 | g.46756647G= | CA2339067737 | FKRP | c.1197G= (p.Glu399=) n.247-5186G= n.247+7982G= | |
| 19 | g.46756647G>T | CA406496846 | FKRP | c.1197G>T (p.Glu399Asp) n.247-5186G>T n.247+7982G>T | |
| 19 | g.46756648G>A | CA406496847 | FKRP | c.1198G>A (p.Gly400Ser) n.247-5185G>A n.247+7983G>A | dbSNP |
| 19 | g.46756648G>C | CA406496848 | FKRP | c.1198G>C (p.Gly400Arg) n.247-5185G>C n.247+7983G>C | |
| 19 | g.46756648G= | CA2339067738 | FKRP | c.1198G= (p.Gly400=) n.247-5185G= n.247+7983G= | |
| 19 | g.46756648G>T | CA406496849 | FKRP | c.1198G>T (p.Gly400Cys) n.247-5185G>T n.247+7983G>T | |
| 19 | g.46756649G>A | CA406496850 | FKRP | c.1199G>A (p.Gly400Asp) n.247-5184G>A n.247+7984G>A | |
| 19 | g.46756649G>C | CA406496851 | FKRP | c.1199G>C (p.Gly400Ala) n.247-5184G>C n.247+7984G>C | |
| 19 | g.46756649G= | CA2339067739 | FKRP | c.1199G= (p.Gly400=) n.247-5184G= n.247+7984G= | |
| 19 | g.46756649G>T | CA406496852 | FKRP | c.1199G>T (p.Gly400Val) n.247-5184G>T n.247+7984G>T | dbSNP |
| 19 | g.46756650C>A | CA507976262 | FKRP | c.1200C>A (p.Gly400=) n.247-5183C>A n.247+7985C>A | |
| 19 | g.46756650C= | CA2339067740 | FKRP | c.1200C= (p.Gly400=) n.247-5183C= n.247+7985C= | |
| 19 | g.46756650C>G | CA507976260 | FKRP | c.1200C>G (p.Gly400=) n.247-5183C>G n.247+7985C>G | |
| 19 | g.46756650C>T | CA507976259 | FKRP | c.1200C>T (p.Gly400=) n.247-5183C>T n.247+7985C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756651G>A | CA406496853 | FKRP | c.1201G>A (p.Asp401Asn) n.247-5182G>A n.247+7986G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.46756651G>C | CA406496854 | FKRP | c.1201G>C (p.Asp401His) n.247-5182G>C n.247+7986G>C | |
| 19 | g.46756651G= | CA2339067741 | FKRP | c.1201G= (p.Asp401=) n.247-5182G= n.247+7986G= | |
| 19 | g.46756651G>T | CA406496855 | FKRP | c.1201G>T (p.Asp401Tyr) n.247-5182G>T n.247+7986G>T | dbSNP |
| 19 | g.46756652A>C | CA406496856 | FKRP | c.1202A>C (p.Asp401Ala) n.247-5181A>C n.247+7987A>C | |
| 19 | g.46756652A>G | CA406496857 | FKRP | c.1202A>G (p.Asp401Gly) n.247-5181A>G n.247+7987A>G | |
| 19 | g.46756652A>T | CA406496858 | FKRP | c.1202A>T (p.Asp401Val) n.247-5181A>T n.247+7987A>T | |
| 19 | g.46756653C>A | CA406496859 | FKRP | c.1203C>A (p.Asp401Glu) n.247-5180C>A n.247+7988C>A | |
| 19 | g.46756653C>G | CA406496860 | FKRP | c.1203C>G (p.Asp401Glu) n.247-5180C>G n.247+7988C>G | |
| 19 | g.46756653C>T | CA507976270 | FKRP | c.1203C>T (p.Asp401=) n.247-5180C>T n.247+7988C>T | ClinVar dbSNP |
| 19 | g.46756653_46756654del | CA913018617 | FKRP | c.1203_1204del (p.Phe403ProfsTer?) n.247-5180_247-5179del n.247+7988_247+7989del | |
| 19 | g.46756653_46756654delinsCT | CA2339067742 | FKRP | c.1203_1204delinsCT (p.Asp401=) n.247-5180_247-5179delinsCT n.247+7988_247+7989delinsCT | |
| 19 | g.46756654T>A | CA406496861 | FKRP | c.1204T>A (p.Phe402Ile) n.247-5179T>A n.247+7989T>A | |
| 19 | g.46756654T>C | CA406496862 | FKRP | c.1204T>C (p.Phe402Leu) n.247-5179T>C n.247+7989T>C | gnomAD v4 |
| 19 | g.46756654T>G | CA406496863 | FKRP | c.1204T>G (p.Phe402Val) n.247-5179T>G n.247+7989T>G | |
| 19 | g.46756658dup | CA2576826109 | FKRP | c.1208dup (p.Arg404ProfsTer?) n.247-5175dup n.247+7993dup | ClinVar gnomAD v4 |
| 19 | g.46756658del | CA658823850 | FKRP | c.1208del (p.Phe403SerfsTer25) n.247-5175del n.247+7993del | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756655T>A | CA406496864 | FKRP | c.1205T>A (p.Phe402Tyr) n.247-5178T>A n.247+7990T>A | COSMIC |
| 19 | g.46756655T>C | CA406496865 | FKRP | c.1205T>C (p.Phe402Ser) n.247-5178T>C n.247+7990T>C | gnomAD v4 |
| 19 | g.46756655T>G | CA406496866 | FKRP | c.1205T>G (p.Phe402Cys) n.247-5178T>G n.247+7990T>G | |
| 19 | g.46756656T>A | CA406496867 | FKRP | c.1206T>A (p.Phe402Leu) n.247-5177T>A n.247+7991T>A | |
| 19 | g.46756656T>C | CA507976278 | FKRP | c.1206T>C (p.Phe402=) n.247-5177T>C n.247+7991T>C | gnomAD v4 |
| 19 | g.46756656T>G | CA406496868 | FKRP | c.1206T>G (p.Phe402Leu) n.247-5177T>G n.247+7991T>G | |
| 19 | g.46756657T>A | CA406496869 | FKRP | c.1207T>A (p.Phe403Ile) n.247-5176T>A n.247+7992T>A | |
| 19 | g.46756657T>C | CA406496870 | FKRP | c.1207T>C (p.Phe403Leu) n.247-5176T>C n.247+7992T>C | |
| 19 | g.46756657T>G | CA406496871 | FKRP | c.1207T>G (p.Phe403Val) n.247-5176T>G n.247+7992T>G | |
| 19 | g.46756658T>A | CA9532275 | FKRP | c.1208T>A (p.Phe403Tyr) n.247-5175T>A n.247+7993T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756658T>C | CA406496872 | FKRP | c.1208T>C (p.Phe403Ser) n.247-5175T>C n.247+7993T>C | |
| 19 | g.46756658T>G | CA406496873 | FKRP | c.1208T>G (p.Phe403Cys) n.247-5175T>G n.247+7993T>G | |
| 19 | g.46756658T= | CA2339067743 | FKRP | c.1208T= (p.Phe403=) n.247-5175T= n.247+7993T= | |
| 19 | g.46756659C>A | CA406496874 | FKRP | c.1209C>A (p.Phe403Leu) n.247-5174C>A n.247+7994C>A | |
| 19 | g.46756659C>G | CA406496875 | FKRP | c.1209C>G (p.Phe403Leu) n.247-5174C>G n.247+7994C>G | |
| 19 | g.46756659C>T | CA507975706 | FKRP | c.1209C>T (p.Phe403=) n.247-5174C>T n.247+7994C>T | |
| 19 | g.46756660del | CA2695228907 | FKRP | c.1210del (p.Arg404AlafsTer24) n.247-5173del n.247+7995del | |
| 19 | g.46756660C>A | CA406496876 | FKRP | c.1210C>A (p.Arg404Ser) n.247-5173C>A n.247+7995C>A | |
| 19 | g.46756660C= | CA2339067744 | FKRP | c.1210C= (p.Arg404=) n.247-5173C= n.247+7995C= | |
| 19 | g.46756660C>G | CA406496877 | FKRP | c.1210C>G (p.Arg404Gly) n.247-5173C>G n.247+7995C>G | |
| 19 | g.46756660C>T | CA406496878 | FKRP | c.1210C>T (p.Arg404Cys) n.247-5173C>T n.247+7995C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756661G>A | CA406496879 | FKRP | c.1211G>A (p.Arg404His) n.247-5172G>A n.247+7996G>A | ClinVar dbSNP |
| 19 | g.46756661G>C | CA406496880 | FKRP | c.1211G>C (p.Arg404Pro) n.247-5172G>C n.247+7996G>C | |
| 19 | g.46756661G= | CA2339067745 | FKRP | c.1211G= (p.Arg404=) n.247-5172G= n.247+7996G= | |
| 19 | g.46756661G>T | CA406496881 | FKRP | c.1211G>T (p.Arg404Leu) n.247-5172G>T n.247+7996G>T | |
| 19 | g.46756662C>A | CA507975708 | FKRP | c.1212C>A (p.Arg404=) n.247-5171C>A n.247+7997C>A | |
| 19 | g.46756662C= | CA2339067746 | FKRP | c.1212C= (p.Arg404=) n.247-5171C= n.247+7997C= | |
| 19 | g.46756662C>G | CA507975710 | FKRP | c.1212C>G (p.Arg404=) n.247-5171C>G n.247+7997C>G | |
| 19 | g.46756662C>T | CA9532276 | FKRP | c.1212C>T (p.Arg404=) n.247-5171C>T n.247+7997C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.46756663G>A | CA406496882 | FKRP | c.1213G>A (p.Val405Met) n.247-5170G>A n.247+7998G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.46756663G>C | CA406496883 | FKRP | c.1213G>C (p.Val405Leu) n.247-5170G>C n.247+7998G>C | |
| 19 | g.46756663G= | CA2339067747 | FKRP | c.1213G= (p.Val405=) n.247-5170G= n.247+7998G= | |
| 19 | g.46756663G>T | CA116712 | FKRP | c.1213G>T (p.Val405Leu) n.247-5170G>T n.247+7998G>T | ClinVar dbSNP |
| 19 | g.46756664T>A | CA406496884 | FKRP | c.1214T>A (p.Val405Glu) n.247-5169T>A n.247+7999T>A | |
| 19 | g.46756664T>C | CA406496885 | FKRP | c.1214T>C (p.Val405Ala) n.247-5169T>C n.247+7999T>C | |
| 19 | g.46756664T>G | CA406496886 | FKRP | c.1214T>G (p.Val405Gly) n.247-5169T>G n.247+7999T>G | gnomAD v4 |
| 19 | g.46756665G>A | CA507975713 | FKRP | c.1215G>A (p.Val405=) n.247-5168G>A n.247+8000G>A | gnomAD v4 |
| 19 | g.46756665G>C | CA507975714 | FKRP | c.1215G>C (p.Val405=) n.247-5168G>C n.247+8000G>C | |
| 19 | g.46756665G= | CA2339067748 | FKRP | c.1215G= (p.Val405=) n.247-5168G= n.247+8000G= | |
| 19 | g.46756665G>T | CA507975715 | FKRP | c.1215G>T (p.Val405=) n.247-5168G>T n.247+8000G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756666C>A | CA406496888 | FKRP | c.1216C>A (p.Gln406Lys) n.247-5167C>A n.247+8001C>A | |
| 19 | g.46756666C= | CA2339067749 | FKRP | c.1216C= (p.Gln406=) n.247-5167C= n.247+8001C= | |
| 19 | g.46756666C>G | CA406496889 | FKRP | c.1216C>G (p.Gln406Glu) n.247-5167C>G n.247+8001C>G | |
| 19 | g.46756666C>T | CA406496887 | FKRP | c.1216C>T (p.Gln406Ter) n.247-5167C>T n.247+8001C>T | ClinVar dbSNP |
| 19 | g.46756667A= | CA2339067750 | FKRP | c.1217A= (p.Gln406=) n.247-5166A= n.247+8002A= | |
| 19 | g.46756667A>C | CA406496890 | FKRP | c.1217A>C (p.Gln406Pro) n.247-5166A>C n.247+8002A>C | ClinVar |
| 19 | g.46756667A>G | CA406496891 | FKRP | c.1217A>G (p.Gln406Arg) n.247-5166A>G n.247+8002A>G | dbSNP gnomAD v4 |
| 19 | g.46756667A>T | CA406496892 | FKRP | c.1217A>T (p.Gln406Leu) n.247-5166A>T n.247+8002A>T | |
| 19 | g.46756668G>A | CA507975726 | FKRP | c.1218G>A (p.Gln406=) n.247-5165G>A n.247+8003G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.46756668G>C | CA406496893 | FKRP | c.1218G>C (p.Gln406His) n.247-5165G>C n.247+8003G>C | |
| 19 | g.46756668G>T | CA406496894 | FKRP | c.1218G>T (p.Gln406His) n.247-5165G>T n.247+8003G>T | |
| 19 | g.46756669T>A | CA406496895 | FKRP | c.1219T>A (p.Tyr407Asn) n.247-5164T>A n.247+8004T>A | |
| 19 | g.46756669T>C | CA406496896 | FKRP | c.1219T>C (p.Tyr407His) n.247-5164T>C n.247+8004T>C | |
| 19 | g.46756669T>G | CA406496897 | FKRP | c.1219T>G (p.Tyr407Asp) n.247-5164T>G n.247+8004T>G | |
| 19 | g.46756670A>C | CA406496898 | FKRP | c.1220A>C (p.Tyr407Ser) n.247-5163A>C n.247+8005A>C | |
| 19 | g.46756670A>G | CA406496899 | FKRP | c.1220A>G (p.Tyr407Cys) n.247-5163A>G n.247+8005A>G | |
| 19 | g.46756670A>T | CA406496900 | FKRP | c.1220A>T (p.Tyr407Phe) n.247-5163A>T n.247+8005A>T | |
| 19 | g.46756671C>A | CA406496901 | FKRP | c.1221C>A (p.Tyr407Ter) n.247-5162C>A n.247+8006C>A | |
| 19 | g.46756671C= | CA2339067751 | FKRP | c.1221C= (p.Tyr407=) n.247-5162C= n.247+8006C= | |
| 19 | g.46756671C>G | CA406496902 | FKRP | c.1221C>G (p.Tyr407Ter) n.247-5162C>G n.247+8006C>G | ClinVar |
| 19 | g.46756671C>T | CA507975731 | FKRP | c.1221C>T (p.Tyr407=) n.247-5162C>T n.247+8006C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.46756672A>C | CA406496905 | FKRP | c.1222A>C (p.Ser408Arg) n.247-5161A>C n.247+8007A>C | |
| 19 | g.46756672A>G | CA406496904 | FKRP | c.1222A>G (p.Ser408Gly) n.247-5161A>G n.247+8007A>G | gnomAD v4 |
| 19 | g.46756672A>T | CA406496903 | FKRP | c.1222A>T (p.Ser408Cys) n.247-5161A>T n.247+8007A>T | |
| 19 | g.46756673G>A | CA9532277 | FKRP | c.1223G>A (p.Ser408Asn) n.247-5160G>A n.247+8008G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756673G>C | CA406496906 | FKRP | c.1223G>C (p.Ser408Thr) n.247-5160G>C n.247+8008G>C | |
| 19 | g.46756673G= | CA2339067752 | FKRP | c.1223G= (p.Ser408=) n.247-5160G= n.247+8008G= | |
| 19 | g.46756673G>T | CA406496907 | FKRP | c.1223G>T (p.Ser408Ile) n.247-5160G>T n.247+8008G>T | |
| 19 | g.46756674C>A | CA406496908 | FKRP | c.1224C>A (p.Ser408Arg) n.247-5159C>A n.247+8009C>A | |
| 19 | g.46756674C= | CA2339067753 | FKRP | c.1224C= (p.Ser408=) n.247-5159C= n.247+8009C= | |
| 19 | g.46756674C>G | CA406496909 | FKRP | c.1224C>G (p.Ser408Arg) n.247-5159C>G n.247+8009C>G | |
| 19 | g.46756674C>T | CA9532278 | FKRP | c.1224C>T (p.Ser408=) n.247-5159C>T n.247+8009C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.46756675G>A | CA406496910 | FKRP | c.1225G>A (p.Glu409Lys) n.247-5158G>A n.247+8010G>A | gnomAD v4 |
| 19 | g.46756675G>C | CA406496911 | FKRP | c.1225G>C (p.Glu409Gln) n.247-5158G>C n.247+8010G>C | |
| 19 | g.46756675G>T | CA406496912 | FKRP | c.1225G>T (p.Glu409Ter) n.247-5158G>T n.247+8010G>T | |
| 19 | g.46756676A>C | CA406496913 | FKRP | c.1226A>C (p.Glu409Ala) n.247-5157A>C n.247+8011A>C | |
| 19 | g.46756676A>G | CA406496914 | FKRP | c.1226A>G (p.Glu409Gly) n.247-5157A>G n.247+8011A>G | |
| 19 | g.46756676A>T | CA406496915 | FKRP | c.1226A>T (p.Glu409Val) n.247-5157A>T n.247+8011A>T | |
| 19 | g.46756677A>C | CA406496916 | FKRP | c.1227A>C (p.Glu409Asp) n.247-5156A>C n.247+8012A>C | |
| 19 | g.46756677A>G | CA507975738 | FKRP | c.1227A>G (p.Glu409=) n.247-5156A>G n.247+8012A>G | |
| 19 | g.46756677A>T | CA406496917 | FKRP | c.1227A>T (p.Glu409Asp) n.247-5156A>T n.247+8012A>T | |
| 19 | g.46756678A>C | CA406496920 | FKRP | c.1228A>C (p.Ser410Arg) n.247-5155A>C n.247+8013A>C | |
| 19 | g.46756678A>G | CA406496919 | FKRP | c.1228A>G (p.Ser410Gly) n.247-5155A>G n.247+8013A>G | |
| 19 | g.46756678A>T | CA406496918 | FKRP | c.1228A>T (p.Ser410Cys) n.247-5155A>T n.247+8013A>T | |
| 19 | g.46756679G>A | CA406496921 | FKRP | c.1229G>A (p.Ser410Asn) n.247-5154G>A n.247+8014G>A | |
| 19 | g.46756679G>C | CA406496922 | FKRP | c.1229G>C (p.Ser410Thr) n.247-5154G>C n.247+8014G>C | |
| 19 | g.46756679G>T | CA406496923 | FKRP | c.1229G>T (p.Ser410Ile) n.247-5154G>T n.247+8014G>T |