Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.52403723_52403731delCA2560251986BAP1c.1415_1423del (p.Gly472_Pro474del)
c.1361_1369del (p.Gly454_Pro456del)
c.119+71_119+79del
n.843_851del
3g.52403728_52403756delCA2586972745BAP1c.1393_1421del (p.Ile465GlyfsTer17)
c.1339_1367del (p.Ile447GlyfsTer17)
c.119+49_119+77del
n.821_849del
3g.52403731delCA16611337BAP1c.1416del (p.Ser473ValfsTer?)
c.1362del (p.Ser455ValfsTer?)
c.119+72del
n.844del
 ClinVar dbSNP
3g.52403731C>ACA353101485BAP1c.1414G>T (p.Gly472Trp)
c.1360G>T (p.Gly454Trp)
c.119+70G>T
n.842G>T
3g.52403731C=CA1364836909BAP1c.1414G= (p.Gly472=)
c.1360G= (p.Gly454=)
c.119+70G=
n.842G=
3g.52403731C>GCA353101487BAP1c.1414G>C (p.Gly472Arg)
c.1360G>C (p.Gly454Arg)
c.119+70G>C
n.842G>C
3g.52403731C>TCA353101490BAP1c.1414G>A (p.Gly472Arg)
c.1360G>A (p.Gly454Arg)
c.119+70G>A
n.842G>A
 ClinVar dbSNP gnomAD v4
3g.52403732A=CA1364836919BAP1c.1413T= (p.Ala471=)
c.1359T= (p.Ala453=)
c.119+69T=
n.841T=
3g.52403732A>CCA2436810BAP1c.1413T>G (p.Ala471=)
c.1359T>G (p.Ala453=)
c.119+69T>G
n.841T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403732A>GCA433886338BAP1c.1413T>C (p.Ala471=)
c.1359T>C (p.Ala453=)
c.119+69T>C
n.841T>C
 ClinVar dbSNP
3g.52403732A>TCA433886339BAP1c.1413T>A (p.Ala471=)
c.1359T>A (p.Ala453=)
c.119+69T>A
n.841T>A
 dbSNP
3g.52403733G>ACA74740824BAP1c.1412C>T (p.Ala471Val)
c.1358C>T (p.Ala453Val)
c.119+68C>T
n.840C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403733G>CCA2436811BAP1c.1412C>G (p.Ala471Gly)
c.1358C>G (p.Ala453Gly)
c.119+68C>G
n.840C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403733G=CA1364836925BAP1c.1412C= (p.Ala471=)
c.1358C= (p.Ala453=)
c.119+68C=
n.840C=
3g.52403733G>TCA353101499BAP1c.1412C>A (p.Ala471Asp)
c.1358C>A (p.Ala453Asp)
c.119+68C>A
n.840C>A
 ClinVar dbSNP
3g.52403733dupCA645529914BAP1c.1412dup (p.Gly472TrpfsTer20)
c.1358dup (p.Gly454TrpfsTer20)
c.119+68dup
n.840dup
 COSMIC
3g.52403733_52403734delinsATCA915942471BAP1c.1411_1412delinsAT (p.Ala471Ile)
c.1357_1358delinsAT (p.Ala453Ile)
c.119+67_119+68delinsAT
n.839_840delinsAT
 ClinVar dbSNP
3g.52403733_52403734delinsGCCA1364836929BAP1c.1411_1412delinsGC (p.Ala471=)
c.1357_1358delinsGC (p.Ala453=)
c.119+67_119+68delinsGC
n.839_840delinsGC
3g.52403734C>ACA353101502BAP1c.1411G>T (p.Ala471Ser)
c.1357G>T (p.Ala453Ser)
c.119+67G>T
n.839G>T
 dbSNP gnomAD v4
3g.52403734C=CA1364836936BAP1c.1411G= (p.Ala471=)
c.1357G= (p.Ala453=)
c.119+67G=
n.839G=
3g.52403734C>GCA353101505BAP1c.1411G>C (p.Ala471Pro)
c.1357G>C (p.Ala453Pro)
c.119+67G>C
n.839G>C
 ClinVar dbSNP
3g.52403734C>TCA74740827BAP1c.1411G>A (p.Ala471Thr)
c.1357G>A (p.Ala453Thr)
c.119+67G>A
n.839G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403735C>ACA74740832BAP1c.1410G>T (p.Gly470=)
c.1356G>T (p.Gly452=)
c.119+66G>T
n.838G>T
 ClinVar dbSNP
3g.52403735C=CA1364836942BAP1c.1410G= (p.Gly470=)
c.1356G= (p.Gly452=)
c.119+66G=
n.838G=
3g.52403735C>GCA433886341BAP1c.1410G>C (p.Gly470=)
c.1356G>C (p.Gly452=)
c.119+66G>C
n.838G>C
 ClinVar dbSNP
3g.52403735C>TCA433886340BAP1c.1410G>A (p.Gly470=)
c.1356G>A (p.Gly452=)
c.119+66G>A
n.838G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403736C>ACA353101514BAP1c.1409G>T (p.Gly470Val)
c.1355G>T (p.Gly452Val)
c.119+65G>T
n.837G>T
3g.52403736C=CA1364836945BAP1c.1409G= (p.Gly470=)
c.1355G= (p.Gly452=)
c.119+65G=
n.837G=
3g.52403736C>GCA353101517BAP1c.1409G>C (p.Gly470Ala)
c.1355G>C (p.Gly452Ala)
c.119+65G>C
n.837G>C
 ClinVar dbSNP
3g.52403736C>TCA353101512BAP1c.1409G>A (p.Gly470Glu)
c.1355G>A (p.Gly452Glu)
c.119+65G>A
n.837G>A
3g.52403737C>ACA353101521BAP1c.1408G>T (p.Gly470Trp)
c.1354G>T (p.Gly452Trp)
c.119+64G>T
n.836G>T
 gnomAD v4
3g.52403737C=CA1364836951BAP1c.1408G= (p.Gly470=)
c.1354G= (p.Gly452=)
c.119+64G=
n.836G=
3g.52403737C>GCA353101523BAP1c.1408G>C (p.Gly470Arg)
c.1354G>C (p.Gly452Arg)
c.119+64G>C
n.836G>C
 ClinVar
3g.52403737C>TCA157250BAP1c.1408G>A (p.Gly470Arg)
c.1354G>A (p.Gly452Arg)
c.119+64G>A
n.836G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403738G>ACA2436812BAP1c.1407C>T (p.Ser469=)
c.1353C>T (p.Ser451=)
c.119+63C>T
n.835C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403738G>CCA353101530BAP1c.1407C>G (p.Ser469Arg)
c.1353C>G (p.Ser451Arg)
c.119+63C>G
n.835C>G
 ClinVar dbSNP
3g.52403738G=CA1364836959BAP1c.1407C= (p.Ser469=)
c.1353C= (p.Ser451=)
c.119+63C=
n.835C=
3g.52403738G>TCA353101533BAP1c.1407C>A (p.Ser469Arg)
c.1353C>A (p.Ser451Arg)
c.119+63C>A
n.835C>A
3g.52403739C>ACA353101536BAP1c.1406G>T (p.Ser469Ile)
c.1352G>T (p.Ser451Ile)
c.119+62G>T
n.834G>T
3g.52403739C>GCA353101538BAP1c.1406G>C (p.Ser469Thr)
c.1352G>C (p.Ser451Thr)
c.119+62G>C
n.834G>C
 ClinVar
3g.52403739C>TCA353101545BAP1c.1406G>A (p.Ser469Asn)
c.1352G>A (p.Ser451Asn)
c.119+62G>A
n.834G>A
3g.52403740T>ACA353101547BAP1c.1405A>T (p.Ser469Cys)
c.1351A>T (p.Ser451Cys)
c.119+61A>T
n.833A>T
3g.52403740T>CCA353101549BAP1c.1405A>G (p.Ser469Gly)
c.1351A>G (p.Ser451Gly)
c.119+61A>G
n.833A>G
3g.52403740T>GCA353101552BAP1c.1405A>C (p.Ser469Arg)
c.1351A>C (p.Ser451Arg)
c.119+61A>C
n.833A>C
3g.52403741G>ACA433886342BAP1c.1404C>T (p.Ser468=)
c.1350C>T (p.Ser450=)
c.119+60C>T
n.832C>T
 dbSNP
3g.52403741G>CCA353101557BAP1c.1404C>G (p.Ser468Arg)
c.1350C>G (p.Ser450Arg)
c.119+60C>G
n.832C>G
3g.52403741G=CA1364836965BAP1c.1404C= (p.Ser468=)
c.1350C= (p.Ser450=)
c.119+60C=
n.832C=
3g.52403741G>TCA353101554BAP1c.1404C>A (p.Ser468Arg)
c.1350C>A (p.Ser450Arg)
c.119+60C>A
n.832C>A
3g.52403742C>ACA353101558BAP1c.1403G>T (p.Ser468Ile)
c.1349G>T (p.Ser450Ile)
c.119+59G>T
n.831G>T
3g.52403742C>GCA353101559BAP1c.1403G>C (p.Ser468Thr)
c.1349G>C (p.Ser450Thr)
c.119+59G>C
n.831G>C

Number of alleles fetched