Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.44953164_44953165delinsTGCA2573155232SETBP1c.3824_3825delinsTG (p.Ser1275Leu)
c.3902_3903delinsTG (p.Ser1301Leu)
c.3347_3348delinsTG (p.Ser1116Leu)
 ClinVar
18g.44953165A=CA2300141291SETBP1c.3825A= (p.Ser1275=)
c.3903A= (p.Ser1301=)
c.3348A= (p.Ser1116=)
18g.44953165A>CCA173396SETBP1c.3825A>C (p.Ser1275=)
c.3903A>C (p.Ser1301=)
c.3348A>C (p.Ser1116=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.44953165A>GCA173398SETBP1c.3825A>G (p.Ser1275=)
c.3903A>G (p.Ser1301=)
c.3348A>G (p.Ser1116=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953165A>TCA173399SETBP1c.3825A>T (p.Ser1275=)
c.3903A>T (p.Ser1301=)
c.3348A>T (p.Ser1116=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.44953166G>ACA402325264SETBP1c.3826G>A (p.Glu1276Lys)
c.3904G>A (p.Glu1302Lys)
c.3349G>A (p.Glu1117Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.44953166G>CCA402325265SETBP1c.3826G>C (p.Glu1276Gln)
c.3904G>C (p.Glu1302Gln)
c.3349G>C (p.Glu1117Gln)
18g.44953166G=CA2300141292SETBP1c.3826G= (p.Glu1276=)
c.3904G= (p.Glu1302=)
c.3349G= (p.Glu1117=)
18g.44953166G>TCA402325266SETBP1c.3826G>T (p.Glu1276Ter)
c.3904G>T (p.Glu1302Ter)
c.3349G>T (p.Glu1117Ter)
18g.44953167A>CCA402325267SETBP1c.3827A>C (p.Glu1276Ala)
c.3905A>C (p.Glu1302Ala)
c.3350A>C (p.Glu1117Ala)
18g.44953167A>GCA402325268SETBP1c.3827A>G (p.Glu1276Gly)
c.3905A>G (p.Glu1302Gly)
c.3350A>G (p.Glu1117Gly)
18g.44953167A>TCA402325269SETBP1c.3827A>T (p.Glu1276Val)
c.3905A>T (p.Glu1302Val)
c.3350A>T (p.Glu1117Val)
18g.44953168G>ACA503983027SETBP1c.3828G>A (p.Glu1276=)
c.3906G>A (p.Glu1302=)
c.3351G>A (p.Glu1117=)
18g.44953168G>CCA402325270SETBP1c.3828G>C (p.Glu1276Asp)
c.3906G>C (p.Glu1302Asp)
c.3351G>C (p.Glu1117Asp)
18g.44953168G>TCA402325271SETBP1c.3828G>T (p.Glu1276Asp)
c.3906G>T (p.Glu1302Asp)
c.3351G>T (p.Glu1117Asp)
18g.44953169A=CA2300141293SETBP1c.3829A= (p.Asn1277=)
c.3907A= (p.Asn1303=)
c.3352A= (p.Asn1118=)
18g.44953169A>CCA402325273SETBP1c.3829A>C (p.Asn1277His)
c.3907A>C (p.Asn1303His)
c.3352A>C (p.Asn1118His)
18g.44953169A>GCA8945994SETBP1c.3829A>G (p.Asn1277Asp)
c.3907A>G (p.Asn1303Asp)
c.3352A>G (p.Asn1118Asp)
 dbSNP ExAC gnomAD v2
18g.44953169A>TCA402325272SETBP1c.3829A>T (p.Asn1277Tyr)
c.3907A>T (p.Asn1303Tyr)
c.3352A>T (p.Asn1118Tyr)
18g.44953170A>CCA402325274SETBP1c.3830A>C (p.Asn1277Thr)
c.3908A>C (p.Asn1303Thr)
c.3353A>C (p.Asn1118Thr)
 gnomAD v4
18g.44953170A>GCA402325275SETBP1c.3830A>G (p.Asn1277Ser)
c.3908A>G (p.Asn1303Ser)
c.3353A>G (p.Asn1118Ser)
 ClinVar
18g.44953170A>TCA402325276SETBP1c.3830A>T (p.Asn1277Ile)
c.3908A>T (p.Asn1303Ile)
c.3353A>T (p.Asn1118Ile)
18g.44953171C>ACA402325277SETBP1c.3831C>A (p.Asn1277Lys)
c.3909C>A (p.Asn1303Lys)
c.3354C>A (p.Asn1118Lys)
18g.44953171C=CA2300141294SETBP1c.3831C= (p.Asn1277=)
c.3909C= (p.Asn1303=)
c.3354C= (p.Asn1118=)
18g.44953171C>GCA402325278SETBP1c.3831C>G (p.Asn1277Lys)
c.3909C>G (p.Asn1303Lys)
c.3354C>G (p.Asn1118Lys)
18g.44953171C>TCA503983032SETBP1c.3831C>T (p.Asn1277=)
c.3909C>T (p.Asn1303=)
c.3354C>T (p.Asn1118=)
 dbSNP gnomAD v4
18g.44953172C>ACA402325279SETBP1c.3832C>A (p.Leu1278Met)
c.3910C>A (p.Leu1304Met)
c.3355C>A (p.Leu1119Met)
18g.44953172C=CA2300141295SETBP1c.3832C= (p.Leu1278=)
c.3910C= (p.Leu1304=)
c.3355C= (p.Leu1119=)
18g.44953172C>GCA8945995SETBP1c.3832C>G (p.Leu1278Val)
c.3910C>G (p.Leu1304Val)
c.3355C>G (p.Leu1119Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953172C>TCA503983034SETBP1c.3832C>T (p.Leu1278=)
c.3910C>T (p.Leu1304=)
c.3355C>T (p.Leu1119=)
 ClinVar gnomAD v4
18g.44953173T>ACA402325280SETBP1c.3833T>A (p.Leu1278Gln)
c.3911T>A (p.Leu1304Gln)
c.3356T>A (p.Leu1119Gln)
18g.44953173T>CCA402325281SETBP1c.3833T>C (p.Leu1278Pro)
c.3911T>C (p.Leu1304Pro)
c.3356T>C (p.Leu1119Pro)
 gnomAD v4
18g.44953173T>GCA402325282SETBP1c.3833T>G (p.Leu1278Arg)
c.3911T>G (p.Leu1304Arg)
c.3356T>G (p.Leu1119Arg)
18g.44953174G>ACA503982788SETBP1c.3834G>A (p.Leu1278=)
c.3912G>A (p.Leu1304=)
c.3357G>A (p.Leu1119=)
18g.44953174G>CCA8945996SETBP1c.3834G>C (p.Leu1278=)
c.3912G>C (p.Leu1304=)
c.3357G>C (p.Leu1119=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953174G=CA2300141296SETBP1c.3834G= (p.Leu1278=)
c.3912G= (p.Leu1304=)
c.3357G= (p.Leu1119=)
18g.44953174G>TCA8945997SETBP1c.3834G>T (p.Leu1278=)
c.3912G>T (p.Leu1304=)
c.3357G>T (p.Leu1119=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953175G>ACA402325285SETBP1c.3835G>A (p.Asp1279Asn)
c.3913G>A (p.Asp1305Asn)
c.3358G>A (p.Asp1120Asn)
 ClinVar
18g.44953175G>CCA402325284SETBP1c.3835G>C (p.Asp1279His)
c.3913G>C (p.Asp1305His)
c.3358G>C (p.Asp1120His)
18g.44953175G>TCA402325283SETBP1c.3835G>T (p.Asp1279Tyr)
c.3913G>T (p.Asp1305Tyr)
c.3358G>T (p.Asp1120Tyr)
 gnomAD v4
18g.44953176A>CCA402325286SETBP1c.3836A>C (p.Asp1279Ala)
c.3914A>C (p.Asp1305Ala)
c.3359A>C (p.Asp1120Ala)
18g.44953176A>GCA402325287SETBP1c.3836A>G (p.Asp1279Gly)
c.3914A>G (p.Asp1305Gly)
c.3359A>G (p.Asp1120Gly)
18g.44953176A>TCA402325288SETBP1c.3836A>T (p.Asp1279Val)
c.3914A>T (p.Asp1305Val)
c.3359A>T (p.Asp1120Val)
18g.44953177C>ACA402325289SETBP1c.3837C>A (p.Asp1279Glu)
c.3915C>A (p.Asp1305Glu)
c.3360C>A (p.Asp1120Glu)
 dbSNP gnomAD v2 gnomAD v4
18g.44953177C=CA2300141297SETBP1c.3837C= (p.Asp1279=)
c.3915C= (p.Asp1305=)
c.3360C= (p.Asp1120=)
18g.44953177C>GCA402325290SETBP1c.3837C>G (p.Asp1279Glu)
c.3915C>G (p.Asp1305Glu)
c.3360C>G (p.Asp1120Glu)
18g.44953177C>TCA8945998SETBP1c.3837C>T (p.Asp1279=)
c.3915C>T (p.Asp1305=)
c.3360C>T (p.Asp1120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953178G>ACA8945999SETBP1c.3838G>A (p.Val1280Met)
c.3916G>A (p.Val1306Met)
c.3361G>A (p.Val1121Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44953178G>CCA402325291SETBP1c.3838G>C (p.Val1280Leu)
c.3916G>C (p.Val1306Leu)
c.3361G>C (p.Val1121Leu)
18g.44953178G=CA2300141298SETBP1c.3838G= (p.Val1280=)
c.3916G= (p.Val1306=)
c.3361G= (p.Val1121=)

Number of alleles fetched