Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.44950563C>ACA402318063SETBP1c.1223C>A (p.Ala408Glu)
c.1301C>A (p.Ala434Glu)
c.746C>A (p.Ala249Glu)
18g.44950563C=CA2300140430SETBP1c.1223C= (p.Ala408=)
c.1301C= (p.Ala434=)
c.746C= (p.Ala249=)
18g.44950563C>GCA173384SETBP1c.1223C>G (p.Ala408Gly)
c.1301C>G (p.Ala434Gly)
c.746C>G (p.Ala249Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44950563C>TCA402318064SETBP1c.1223C>T (p.Ala408Val)
c.1301C>T (p.Ala434Val)
c.746C>T (p.Ala249Val)
18g.44950564A=CA2300140431SETBP1c.1224A= (p.Ala408=)
c.1302A= (p.Ala434=)
c.747A= (p.Ala249=)
18g.44950564A>CCA503981446SETBP1c.1224A>C (p.Ala408=)
c.1302A>C (p.Ala434=)
c.747A>C (p.Ala249=)
18g.44950564A>GCA503981447SETBP1c.1224A>G (p.Ala408=)
c.1302A>G (p.Ala434=)
c.747A>G (p.Ala249=)
 dbSNP
18g.44950564A>TCA503981448SETBP1c.1224A>T (p.Ala408=)
c.1302A>T (p.Ala434=)
c.747A>T (p.Ala249=)
18g.44950565C>ACA402318065SETBP1c.1225C>A (p.Pro409Thr)
c.1303C>A (p.Pro435Thr)
c.748C>A (p.Pro250Thr)
18g.44950565C=CA2300140432SETBP1c.1225C= (p.Pro409=)
c.1303C= (p.Pro435=)
c.748C= (p.Pro250=)
18g.44950565C>GCA402318067SETBP1c.1225C>G (p.Pro409Ala)
c.1303C>G (p.Pro435Ala)
c.748C>G (p.Pro250Ala)
18g.44950565C>TCA402318066SETBP1c.1225C>T (p.Pro409Ser)
c.1303C>T (p.Pro435Ser)
c.748C>T (p.Pro250Ser)
 dbSNP gnomAD v4
18g.44950566C>ACA402318068SETBP1c.1226C>A (p.Pro409His)
c.1304C>A (p.Pro435His)
c.749C>A (p.Pro250His)
18g.44950566C>GCA402318069SETBP1c.1226C>G (p.Pro409Arg)
c.1304C>G (p.Pro435Arg)
c.749C>G (p.Pro250Arg)
18g.44950566C>TCA402318070SETBP1c.1226C>T (p.Pro409Leu)
c.1304C>T (p.Pro435Leu)
c.749C>T (p.Pro250Leu)
18g.44950567C>ACA503981449SETBP1c.1227C>A (p.Pro409=)
c.1305C>A (p.Pro435=)
c.750C>A (p.Pro250=)
18g.44950567C>GCA503981450SETBP1c.1227C>G (p.Pro409=)
c.1305C>G (p.Pro435=)
c.750C>G (p.Pro250=)
18g.44950567C>TCA503981451SETBP1c.1227C>T (p.Pro409=)
c.1305C>T (p.Pro435=)
c.750C>T (p.Pro250=)
18g.44950571_44950572delCA2695227476SETBP1c.1231_1232del (p.Leu411GlyfsTer6)
c.1309_1310del (p.Leu437GlyfsTer6)
c.754_755del (p.Leu252GlyfsTer6)
18g.44950568T>ACA402318071SETBP1c.1228T>A (p.Ser410Thr)
c.1306T>A (p.Ser436Thr)
c.751T>A (p.Ser251Thr)
18g.44950568T>CCA8945582SETBP1c.1228T>C (p.Ser410Pro)
c.1306T>C (p.Ser436Pro)
c.751T>C (p.Ser251Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44950568T>GCA402318072SETBP1c.1228T>G (p.Ser410Ala)
c.1306T>G (p.Ser436Ala)
c.751T>G (p.Ser251Ala)
18g.44950568T=CA2300140433SETBP1c.1228T= (p.Ser410=)
c.1306T= (p.Ser436=)
c.751T= (p.Ser251=)
18g.44950569C>ACA402318073SETBP1c.1229C>A (p.Ser410Tyr)
c.1307C>A (p.Ser436Tyr)
c.752C>A (p.Ser251Tyr)
18g.44950569C>GCA402318074SETBP1c.1229C>G (p.Ser410Cys)
c.1307C>G (p.Ser436Cys)
c.752C>G (p.Ser251Cys)
18g.44950569C>TCA402318075SETBP1c.1229C>T (p.Ser410Phe)
c.1307C>T (p.Ser436Phe)
c.752C>T (p.Ser251Phe)
18g.44950570T>ACA503981454SETBP1c.1230T>A (p.Ser410=)
c.1308T>A (p.Ser436=)
c.753T>A (p.Ser251=)
18g.44950570T>CCA503981453SETBP1c.1230T>C (p.Ser410=)
c.1308T>C (p.Ser436=)
c.753T>C (p.Ser251=)
18g.44950570T>GCA503981452SETBP1c.1230T>G (p.Ser410=)
c.1308T>G (p.Ser436=)
c.753T>G (p.Ser251=)
18g.44950571C>ACA402318076SETBP1c.1231C>A (p.Leu411Met)
c.1309C>A (p.Leu437Met)
c.754C>A (p.Leu252Met)
18g.44950571C>GCA402318077SETBP1c.1231C>G (p.Leu411Val)
c.1309C>G (p.Leu437Val)
c.754C>G (p.Leu252Val)
18g.44950571C>TCA503981455SETBP1c.1231C>T (p.Leu411=)
c.1309C>T (p.Leu437=)
c.754C>T (p.Leu252=)
 gnomAD v4
18g.44950572T>ACA402318080SETBP1c.1232T>A (p.Leu411Gln)
c.1310T>A (p.Leu437Gln)
c.755T>A (p.Leu252Gln)
18g.44950572T>CCA402318079SETBP1c.1232T>C (p.Leu411Pro)
c.1310T>C (p.Leu437Pro)
c.755T>C (p.Leu252Pro)
 gnomAD v4
18g.44950572T>GCA402318078SETBP1c.1232T>G (p.Leu411Arg)
c.1310T>G (p.Leu437Arg)
c.755T>G (p.Leu252Arg)
 COSMIC
18g.44950573G>ACA503981456SETBP1c.1233G>A (p.Leu411=)
c.1311G>A (p.Leu437=)
c.756G>A (p.Leu252=)
 gnomAD v4
18g.44950573G>CCA503981457SETBP1c.1233G>C (p.Leu411=)
c.1311G>C (p.Leu437=)
c.756G>C (p.Leu252=)
18g.44950573G>TCA503981458SETBP1c.1233G>T (p.Leu411=)
c.1311G>T (p.Leu437=)
c.756G>T (p.Leu252=)
18g.44950573_44950574delinsATCA645613010SETBP1c.1233_1234delinsAT (p.Asp412Tyr)
c.1311_1312delinsAT (p.Asp438Tyr)
c.756_757delinsAT (p.Asp253Tyr)
 COSMIC
18g.44950574G>ACA402318081SETBP1c.1234G>A (p.Asp412Asn)
c.1312G>A (p.Asp438Asn)
c.757G>A (p.Asp253Asn)
 gnomAD v4
18g.44950574G>CCA402318082SETBP1c.1234G>C (p.Asp412His)
c.1312G>C (p.Asp438His)
c.757G>C (p.Asp253His)
18g.44950574G>TCA402318083SETBP1c.1234G>T (p.Asp412Tyr)
c.1312G>T (p.Asp438Tyr)
c.757G>T (p.Asp253Tyr)
 COSMIC
18g.44950575A>CCA402318084SETBP1c.1235A>C (p.Asp412Ala)
c.1313A>C (p.Asp438Ala)
c.758A>C (p.Asp253Ala)
18g.44950575A>GCA402318085SETBP1c.1235A>G (p.Asp412Gly)
c.1313A>G (p.Asp438Gly)
c.758A>G (p.Asp253Gly)
18g.44950575A>TCA402318086SETBP1c.1235A>T (p.Asp412Val)
c.1313A>T (p.Asp438Val)
c.758A>T (p.Asp253Val)
18g.44950576T>ACA402318087SETBP1c.1236T>A (p.Asp412Glu)
c.1314T>A (p.Asp438Glu)
c.759T>A (p.Asp253Glu)
18g.44950576T>CCA503981459SETBP1c.1236T>C (p.Asp412=)
c.1314T>C (p.Asp438=)
c.759T>C (p.Asp253=)
18g.44950576T>GCA8945583SETBP1c.1236T>G (p.Asp412Glu)
c.1314T>G (p.Asp438Glu)
c.759T>G (p.Asp253Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.44950576T=CA2300140434SETBP1c.1236T= (p.Asp412=)
c.1314T= (p.Asp438=)
c.759T= (p.Asp253=)
18g.44950577C>ACA402318088SETBP1c.1237C>A (p.Pro413Thr)
c.1315C>A (p.Pro439Thr)
c.760C>A (p.Pro254Thr)

Number of alleles fetched