Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.67190656dup | CA150609 | ARFGEF1,CSPP1 | c.3293dup (p.Tyr1098Ter) c.1295dup c.3317dup (p.Tyr1106Ter) c.2951dup (p.Tyr984Ter) c.3032dup (p.Tyr1011Ter) c.3146dup (p.Tyr1049Ter) n.4556dup c.3185dup (p.Tyr1062Ter) c.3212dup (p.Tyr1071Ter) c.2960dup (p.Tyr987Ter) c.2528dup (p.Tyr843Ter) c.3335dup (p.Tyr1112Ter) c.1735dup c.3206dup (p.Tyr1069Ter) c.*1188dup (n.*1188dup) c.3113dup (p.Tyr1038Ter) c.1274dup n.368dup c.3142-4726dup (n.3142-4726dup) n.2725dup c.1099dup c.*2946dup (n.*2946dup) c.*819dup (n.*819dup) c.*1243dup (n.*1243dup) n.609dup c.3194dup (p.Tyr1065Ter) c.2573dup (p.Tyr858Ter) n.1190dup c.*1598dup (n.*1598dup) c.2535dup (n.2535dup) c.1224dup c.2078dup (p.Tyr693Ter) c.2762dup (p.Tyr921Ter) c.3227dup (p.Tyr1076Ter) n.1722dup c.3104dup (p.Tyr1035Ter) c.2654dup (p.Tyr885Ter) n.732dup n.352dup c.*3126dup (n.*3126dup) c.2840dup (p.Tyr947Ter) n.2151dup n.2198dup n.1271dup c.560+9740dup c.2177dup (p.Tyr726Ter) c.3820+9740dup n.1217dup n.508dup c.5385+9740dup (n.5385+9740dup) c.3455dup (p.Tyr1152Ter) c.3302dup (p.Tyr1101Ter) c.2924dup (p.Tyr975Ter) c.3497dup (p.Tyr1166Ter) c.3473dup (p.Tyr1158Ter) c.3431dup (p.Tyr1144Ter) c.3392dup (p.Tyr1131Ter) c.3350dup (p.Tyr1117Ter) c.3251dup (p.Tyr1084Ter) c.2372dup (p.Tyr791Ter) c.1892dup (p.Tyr631Ter) c.1532dup (p.Tyr511Ter) c.3356dup (p.Tyr1119Ter) c.3332dup (p.Tyr1111Ter) c.3098dup (p.Tyr1033Ter) c.2900dup (p.Tyr967Ter) c.2666dup (p.Tyr889Ter) c.1739dup (p.Tyr580Ter) c.2330dup (p.Tyr777Ter) | ClinVar dbSNP gnomAD v4 |
8 | g.67190656A= | CA3156279579 | ARFGEF1,CSPP1 | c.3293A= (p.Tyr1098=) c.1295A= c.3317A= (p.Tyr1106=) c.2951A= (p.Tyr984=) c.3032A= (p.Tyr1011=) c.3146A= (p.Tyr1049=) n.4556A= c.3185A= (p.Tyr1062=) c.3212A= (p.Tyr1071=) c.2960A= (p.Tyr987=) c.2528A= (p.Tyr843=) c.3335A= (p.Tyr1112=) c.1735A= c.3206A= (p.Tyr1069=) c.*1188A= (n.*1188A=) c.3113A= (p.Tyr1038=) c.1274A= n.368A= c.3142-4726A= (n.3142-4726A=) n.2725A= c.1099A= c.*2946A= (n.*2946A=) c.*819A= (n.*819A=) c.*1243A= (n.*1243A=) n.609A= c.3194A= (p.Tyr1065=) c.2573A= (p.Tyr858=) n.1190A= c.*1598A= (n.*1598A=) c.2535A= (n.2535A=) c.1224A= c.2078A= (p.Tyr693=) c.2762A= (p.Tyr921=) c.3227A= (p.Tyr1076=) n.1722A= c.3104A= (p.Tyr1035=) c.2654A= (p.Tyr885=) n.732A= n.352A= c.*3126A= (n.*3126A=) c.2840A= (p.Tyr947=) n.2151A= n.2198A= n.1271A= c.560+9740T= c.2177A= (p.Tyr726=) c.3820+9740T= n.1217A= n.508A= c.5385+9740T= (n.5385+9740T=) c.3455A= (p.Tyr1152=) c.3302A= (p.Tyr1101=) c.2924A= (p.Tyr975=) c.3497A= (p.Tyr1166=) c.3473A= (p.Tyr1158=) c.3431A= (p.Tyr1144=) c.3392A= (p.Tyr1131=) c.3350A= (p.Tyr1117=) c.3251A= (p.Tyr1084=) c.2372A= (p.Tyr791=) c.1892A= (p.Tyr631=) c.1532A= (p.Tyr511=) c.3356A= (p.Tyr1119=) c.3332A= (p.Tyr1111=) c.3098A= (p.Tyr1033=) c.2900A= (p.Tyr967=) c.2666A= (p.Tyr889=) c.1739A= (p.Tyr580=) c.2330A= (p.Tyr777=) | dbSNP |