Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.67190656dupCA150609ARFGEF1,CSPP1c.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
8g.67190656A=CA3156279579ARFGEF1,CSPP1c.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

Number of alleles fetched