Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.52403728_52403756delCA2586972745BAP1c.1393_1421del (p.Ile465GlyfsTer17)
c.1339_1367del (p.Ile447GlyfsTer17)
c.119+49_119+77del
n.821_849del
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
3g.52403742C>TCA353101560BAP1c.1403G>A (p.Ser468Asn)
c.1349G>A (p.Ser450Asn)
c.119+59G>A
n.831G>A
gnomAD v4
3g.52403742_52403743insCAGCA2513402845BAP1c.1402_1403insCTG (p.Ser468delinsThrGly)
c.1348_1349insCTG (p.Ser450delinsThrGly)
c.119+58_119+59insCTG
n.830_831insCTG
3g.52403743T>ACA353101561BAP1c.1402A>T (p.Ser468Cys)
c.1348A>T (p.Ser450Cys)
c.119+58A>T
n.830A>T
3g.52403743T>CCA353101562BAP1c.1402A>G (p.Ser468Gly)
c.1348A>G (p.Ser450Gly)
c.119+58A>G
n.830A>G
ClinVar dbSNP
3g.52403743T>GCA353101564BAP1c.1402A>C (p.Ser468Arg)
c.1348A>C (p.Ser450Arg)
c.119+58A>C
n.830A>C
3g.52403743T=CA1364836971BAP1c.1402A= (p.Ser468=)
c.1348A= (p.Ser450=)
c.119+58A=
n.830A=
3g.52403744A=CA1364836979BAP1c.1401T= (p.Thr467=)
c.1347T= (p.Thr449=)
c.119+57T=
n.829T=
3g.52403744A>CCA433886343BAP1c.1401T>G (p.Thr467=)
c.1347T>G (p.Thr449=)
c.119+57T>G
n.829T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403744A>GCA433886344BAP1c.1401T>C (p.Thr467=)
c.1347T>C (p.Thr449=)
c.119+57T>C
n.829T>C
dbSNP gnomAD v3 gnomAD v4
3g.52403744A>TCA433886345BAP1c.1401T>A (p.Thr467=)
c.1347T>A (p.Thr449=)
c.119+57T>A
n.829T>A
ClinVar
3g.52403745G>ACA353101567BAP1c.1400C>T (p.Thr467Ile)
c.1346C>T (p.Thr449Ile)
c.119+56C>T
n.828C>T
3g.52403745G>CCA353101569BAP1c.1400C>G (p.Thr467Ser)
c.1346C>G (p.Thr449Ser)
c.119+56C>G
n.828C>G
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403745G=CA1364836984BAP1c.1400C= (p.Thr467=)
c.1346C= (p.Thr449=)
c.119+56C=
n.828C=
3g.52403745G>TCA353101581BAP1c.1400C>A (p.Thr467Asn)
c.1346C>A (p.Thr449Asn)
c.119+56C>A
n.828C>A
3g.52403746T>ACA353101586BAP1c.1399A>T (p.Thr467Ser)
c.1345A>T (p.Thr449Ser)
c.119+55A>T
n.827A>T
3g.52403746T>CCA353101590BAP1c.1399A>G (p.Thr467Ala)
c.1345A>G (p.Thr449Ala)
c.119+55A>G
n.827A>G
3g.52403746T>GCA353101592BAP1c.1399A>C (p.Thr467Pro)
c.1345A>C (p.Thr449Pro)
c.119+55A>C
n.827A>C
ClinVar
3g.52403747C>ACA353101596BAP1c.1398G>T (p.Lys466Asn)
c.1344G>T (p.Lys448Asn)
c.119+54G>T
n.826G>T
dbSNP
3g.52403747C=CA1364836990BAP1c.1398G= (p.Lys466=)
c.1344G= (p.Lys448=)
c.119+54G=
n.826G=
3g.52403747C>GCA353101607BAP1c.1398G>C (p.Lys466Asn)
c.1344G>C (p.Lys448Asn)
c.119+54G>C
n.826G>C
3g.52403747C>TCA433886346BAP1c.1398G>A (p.Lys466=)
c.1344G>A (p.Lys448=)
c.119+54G>A
n.826G>A
gnomAD v4
3g.52403748T>ACA353101616BAP1c.1397A>T (p.Lys466Met)
c.1343A>T (p.Lys448Met)
c.119+53A>T
n.825A>T
3g.52403748T>CCA353101624BAP1c.1397A>G (p.Lys466Arg)
c.1343A>G (p.Lys448Arg)
c.119+53A>G
n.825A>G
3g.52403748T>GCA353101615BAP1c.1397A>C (p.Lys466Thr)
c.1343A>C (p.Lys448Thr)
c.119+53A>C
n.825A>C
3g.52403749T>ACA353101629BAP1c.1396A>T (p.Lys466Ter)
c.1342A>T (p.Lys448Ter)
c.119+52A>T
n.824A>T
3g.52403749T>CCA353101627BAP1c.1396A>G (p.Lys466Glu)
c.1342A>G (p.Lys448Glu)
c.119+52A>G
n.824A>G
dbSNP
3g.52403749T>GCA353101628BAP1c.1396A>C (p.Lys466Gln)
c.1342A>C (p.Lys448Gln)
c.119+52A>C
n.824A>C
ClinVar
3g.52403750G>ACA433886347BAP1c.1395C>T (p.Ile465=)
c.1341C>T (p.Ile447=)
c.119+51C>T
n.823C>T
ClinVar dbSNP
3g.52403750G>CCA353101630BAP1c.1395C>G (p.Ile465Met)
c.1341C>G (p.Ile447Met)
c.119+51C>G
n.823C>G
3g.52403750G=CA1364836998BAP1c.1395C= (p.Ile465=)
c.1341C= (p.Ile447=)
c.119+51C=
n.823C=
3g.52403750G>TCA433886348BAP1c.1395C>A (p.Ile465=)
c.1341C>A (p.Ile447=)
c.119+51C>A
n.823C>A
3g.52403751A>CCA353101631BAP1c.1394T>G (p.Ile465Ser)
c.1340T>G (p.Ile447Ser)
c.119+50T>G
n.822T>G
3g.52403751A>GCA353101632BAP1c.1394T>C (p.Ile465Thr)
c.1340T>C (p.Ile447Thr)
c.119+50T>C
n.822T>C
3g.52403751A>TCA353101633BAP1c.1394T>A (p.Ile465Asn)
c.1340T>A (p.Ile447Asn)
c.119+50T>A
n.822T>A
dbSNP
3g.52403752T>ACA353101635BAP1c.1393A>T (p.Ile465Phe)
c.1339A>T (p.Ile447Phe)
c.119+49A>T
n.821A>T
3g.52403752T>CCA74740841BAP1c.1393A>G (p.Ile465Val)
c.1339A>G (p.Ile447Val)
c.119+49A>G
n.821A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403752T>GCA353101636BAP1c.1393A>C (p.Ile465Leu)
c.1339A>C (p.Ile447Leu)
c.119+49A>C
n.821A>C
ClinVar
3g.52403752T=CA1364837005BAP1c.1393A= (p.Ile465=)
c.1339A= (p.Ile447=)
c.119+49A=
n.821A=
3g.52403753G>ACA433886349BAP1c.1392C>T (p.Ser464=)
c.1338C>T (p.Ser446=)
c.119+48C>T
n.820C>T
ClinVar dbSNP
3g.52403753G>CCA433886350BAP1c.1392C>G (p.Ser464=)
c.1338C>G (p.Ser446=)
c.119+48C>G
n.820C>G
3g.52403753G>TCA433886351BAP1c.1392C>A (p.Ser464=)
c.1338C>A (p.Ser446=)
c.119+48C>A
n.820C>A
3g.52403754delCA645529915BAP1c.1392del (p.Ile465SerfsTer?)
c.1338del (p.Ile447SerfsTer?)
c.119+48del
n.820del
COSMIC
3g.52403754G>ACA353101638BAP1c.1391C>T (p.Ser464Phe)
c.1337C>T (p.Ser446Phe)
c.119+47C>T
n.819C>T
3g.52403754G>CCA353101642BAP1c.1391C>G (p.Ser464Cys)
c.1337C>G (p.Ser446Cys)
c.119+47C>G
n.819C>G
3g.52403754G>TCA353101644BAP1c.1391C>A (p.Ser464Tyr)
c.1337C>A (p.Ser446Tyr)
c.119+47C>A
n.819C>A
3g.52403755A>CCA353101649BAP1c.1390T>G (p.Ser464Ala)
c.1336T>G (p.Ser446Ala)
c.119+46T>G
n.818T>G
3g.52403755A>GCA353101651BAP1c.1390T>C (p.Ser464Pro)
c.1336T>C (p.Ser446Pro)
c.119+46T>C
n.818T>C
3g.52403755A>TCA353101647BAP1c.1390T>A (p.Ser464Thr)
c.1336T>A (p.Ser446Thr)
c.119+46T>A
n.818T>A
ClinVar
3g.52403756C>ACA433886353BAP1c.1389G>T (p.Leu463=)
c.1335G>T (p.Leu445=)
c.119+45G>T
n.817G>T
ClinVar
3g.52403756C=CA1364837015BAP1c.1389G= (p.Leu463=)
c.1335G= (p.Leu445=)
c.119+45G=
n.817G=
3g.52403756C>GCA16617997BAP1c.1389G>C (p.Leu463=)
c.1335G>C (p.Leu445=)
c.119+45G>C
n.817G>C
ClinVar dbSNP gnomAD v4
3g.52403756C>TCA433886352BAP1c.1389G>A (p.Leu463=)
c.1335G>A (p.Leu445=)
c.119+45G>A
n.817G>A
ClinVar dbSNP gnomAD v4
3g.52403757A>CCA353101654BAP1c.1388T>G (p.Leu463Arg)
c.1334T>G (p.Leu445Arg)
c.119+44T>G
n.816T>G
3g.52403757A>GCA353101656BAP1c.1388T>C (p.Leu463Pro)
c.1334T>C (p.Leu445Pro)
c.119+44T>C
n.816T>C
ClinVar
3g.52403757A>TCA353101658BAP1c.1388T>A (p.Leu463Gln)
c.1334T>A (p.Leu445Gln)
c.119+44T>A
n.816T>A
3g.52403758G>ACA2436813BAP1c.1387C>T (p.Leu463=)
c.1333C>T (p.Leu445=)
c.119+43C>T
n.815C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403758G>CCA353101659BAP1c.1387C>G (p.Leu463Val)
c.1333C>G (p.Leu445Val)
c.119+43C>G
n.815C>G
3g.52403758G=CA1364837019BAP1c.1387C= (p.Leu463=)
c.1333C= (p.Leu445=)
c.119+43C=
n.815C=
3g.52403758G>TCA353101660BAP1c.1387C>A (p.Leu463Met)
c.1333C>A (p.Leu445Met)
c.119+43C>A
n.815C>A
3g.52403759A>CCA433886354BAP1c.1386T>G (p.Pro462=)
c.1332T>G (p.Pro444=)
c.119+42T>G
n.814T>G
gnomAD v4
3g.52403759A>GCA433886355BAP1c.1386T>C (p.Pro462=)
c.1332T>C (p.Pro444=)
c.119+42T>C
n.814T>C
3g.52403759A>TCA433886356BAP1c.1386T>A (p.Pro462=)
c.1332T>A (p.Pro444=)
c.119+42T>A
n.814T>A
3g.52403760G>ACA2436814BAP1c.1385C>T (p.Pro462Leu)
c.1331C>T (p.Pro444Leu)
c.119+41C>T
n.813C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403760G>CCA353101668BAP1c.1385C>G (p.Pro462Arg)
c.1331C>G (p.Pro444Arg)
c.119+41C>G
n.813C>G
gnomAD v4
3g.52403760G=CA1364837023BAP1c.1385C= (p.Pro462=)
c.1331C= (p.Pro444=)
c.119+41C=
n.813C=
3g.52403760G>TCA353101663BAP1c.1385C>A (p.Pro462His)
c.1331C>A (p.Pro444His)
c.119+41C>A
n.813C>A
3g.52403761G>ACA353101669BAP1c.1384C>T (p.Pro462Ser)
c.1330C>T (p.Pro444Ser)
c.119+40C>T
n.812C>T
ClinVar dbSNP gnomAD v4
3g.52403761G>CCA353101671BAP1c.1384C>G (p.Pro462Ala)
c.1330C>G (p.Pro444Ala)
c.119+40C>G
n.812C>G
3g.52403761G=CA1364837028BAP1c.1384C= (p.Pro462=)
c.1330C= (p.Pro444=)
c.119+40C=
n.812C=
3g.52403761G>TCA353101672BAP1c.1384C>A (p.Pro462Thr)
c.1330C>A (p.Pro444Thr)
c.119+40C>A
n.812C>A
ClinVar dbSNP gnomAD v4
3g.52403762A>CCA353101676BAP1c.1383T>G (p.Ile461Met)
c.1329T>G (p.Ile443Met)
c.119+39T>G
n.811T>G
3g.52403762A>GCA433886357BAP1c.1383T>C (p.Ile461=)
c.1329T>C (p.Ile443=)
c.119+39T>C
n.811T>C
3g.52403762A>TCA433886358BAP1c.1383T>A (p.Ile461=)
c.1329T>A (p.Ile443=)
c.119+39T>A
n.811T>A
3g.52403763dupCA2499216939BAP1c.1383dup (p.Pro462SerfsTer7)
c.1329dup (p.Pro444SerfsTer7)
c.119+39dup
n.811dup
ClinVar dbSNP
3g.52403763A=CA1364837031BAP1c.1382T= (p.Ile461=)
c.1328T= (p.Ile443=)
c.119+38T=
n.810T=
3g.52403763A>CCA353101681BAP1c.1382T>G (p.Ile461Ser)
c.1328T>G (p.Ile443Ser)
c.119+38T>G
n.810T>G
3g.52403763A>GCA353101680BAP1c.1382T>C (p.Ile461Thr)
c.1328T>C (p.Ile443Thr)
c.119+38T>C
n.810T>C
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403763A>TCA353101679BAP1c.1382T>A (p.Ile461Asn)
c.1328T>A (p.Ile443Asn)
c.119+38T>A
n.810T>A
3g.52403763delinsTTCA2695197916BAP1c.1382delinsAA (p.Ile461LysfsTer8)
c.1328delinsAA (p.Ile443LysfsTer8)
c.119+38delinsAA
n.810delinsAA
ClinVar
3g.52403763_52403764delinsATCA1364837033BAP1c.1381_1382delinsAT (p.Ile461=)
c.1327_1328delinsAT (p.Ile443=)
c.119+37_119+38delinsAT
n.809_810delinsAT
3g.52403764T>ACA353101682BAP1c.1381A>T (p.Ile461Phe)
c.1327A>T (p.Ile443Phe)
c.119+37A>T
n.809A>T
3g.52403764T>CCA353101683BAP1c.1381A>G (p.Ile461Val)
c.1327A>G (p.Ile443Val)
c.119+37A>G
n.809A>G
ClinVar dbSNP gnomAD v4
3g.52403764T>GCA353101685BAP1c.1381A>C (p.Ile461Leu)
c.1327A>C (p.Ile443Leu)
c.119+37A>C
n.809A>C
3g.52403764T=CA1364837040BAP1c.1381A= (p.Ile461=)
c.1327A= (p.Ile443=)
c.119+37A=
n.809A=
3g.52403765delCA913188148BAP1c.1381del (p.Ile461PhefsTer?)
c.1327del (p.Ile443PhefsTer?)
c.119+37del
n.809del
ClinVar dbSNP
3g.52403765T>ACA433886359BAP1c.1380A>T (p.Ser460=)
c.1326A>T (p.Ser442=)
c.119+36A>T
n.808A>T
ClinVar dbSNP
3g.52403765T>CCA433886360BAP1c.1380A>G (p.Ser460=)
c.1326A>G (p.Ser442=)
c.119+36A>G
n.808A>G
ClinVar dbSNP
3g.52403765T>GCA433886361BAP1c.1380A>C (p.Ser460=)
c.1326A>C (p.Ser442=)
c.119+36A>C
n.808A>C
3g.52403766G>ACA353101687BAP1c.1379C>T (p.Ser460Leu)
c.1325C>T (p.Ser442Leu)
c.119+35C>T
n.807C>T
ClinVar dbSNP gnomAD v4
3g.52403766G>CCA353101689BAP1c.1379C>G (p.Ser460Ter)
c.1325C>G (p.Ser442Ter)
c.119+35C>G
n.807C>G
ClinVar dbSNP COSMIC
3g.52403766G=CA1364837047BAP1c.1379C= (p.Ser460=)
c.1325C= (p.Ser442=)
c.119+35C=
n.807C=
3g.52403766G>TCA353101690BAP1c.1379C>A (p.Ser460Ter)
c.1325C>A (p.Ser442Ter)
c.119+35C>A
n.807C>A
ClinVar dbSNP
3g.52403767A>CCA353101694BAP1c.1378T>G (p.Ser460Ala)
c.1324T>G (p.Ser442Ala)
c.119+34T>G
n.806T>G
3g.52403767A>GCA353101696BAP1c.1378T>C (p.Ser460Pro)
c.1324T>C (p.Ser442Pro)
c.119+34T>C
n.806T>C
3g.52403767A>TCA353101698BAP1c.1378T>A (p.Ser460Thr)
c.1324T>A (p.Ser442Thr)
c.119+34T>A
n.806T>A
gnomAD v4
3g.52403768G>ACA433886364BAP1c.1377C>T (p.Leu459=)
c.1323C>T (p.Leu441=)
c.119+33C>T
n.805C>T
ClinVar
3g.52403768G>CCA433886363BAP1c.1377C>G (p.Leu459=)
c.1323C>G (p.Leu441=)
c.119+33C>G
n.805C>G
3g.52403768G>TCA433886362BAP1c.1377C>A (p.Leu459=)
c.1323C>A (p.Leu441=)
c.119+33C>A
n.805C>A
3g.52403769A>CCA353101701BAP1c.1376T>G (p.Leu459Arg)
c.1322T>G (p.Leu441Arg)
c.119+32T>G
n.804T>G
3g.52403769A>GCA353101704BAP1c.1376T>C (p.Leu459Pro)
c.1322T>C (p.Leu441Pro)
c.119+32T>C
n.804T>C
dbSNP gnomAD v4
3g.52403769A>TCA353101706BAP1c.1376T>A (p.Leu459His)
c.1322T>A (p.Leu441His)
c.119+32T>A
n.804T>A
3g.52403770G>ACA353101713BAP1c.1375C>T (p.Leu459Phe)
c.1321C>T (p.Leu441Phe)
c.119+31C>T
n.803C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403770G>CCA353101714BAP1c.1375C>G (p.Leu459Val)
c.1321C>G (p.Leu441Val)
c.119+31C>G
n.803C>G
3g.52403770G=CA1364837057BAP1c.1375C= (p.Leu459=)
c.1321C= (p.Leu441=)
c.119+31C=
n.803C=
3g.52403770G>TCA353101711BAP1c.1375C>A (p.Leu459Ile)
c.1321C>A (p.Leu441Ile)
c.119+31C>A
n.803C>A
3g.52403771delCA2697556707BAP1c.1375del (p.Leu459SerfsTer?)
c.1321del (p.Leu441SerfsTer?)
c.119+31del
n.803del
ClinVar
3g.52403771G>ACA433886365BAP1c.1374C>T (p.Asp458=)
c.1320C>T (p.Asp440=)
c.119+30C>T
n.802C>T
3g.52403771G>CCA353101717BAP1c.1374C>G (p.Asp458Glu)
c.1320C>G (p.Asp440Glu)
c.119+30C>G
n.802C>G
3g.52403771G=CA1364837061BAP1c.1374C= (p.Asp458=)
c.1320C= (p.Asp440=)
c.119+30C=
n.802C=
3g.52403771G>TCA353101719BAP1c.1374C>A (p.Asp458Glu)
c.1320C>A (p.Asp440Glu)
c.119+30C>A
n.802C>A
ClinVar dbSNP
3g.52403772T>ACA353101721BAP1c.1373A>T (p.Asp458Val)
c.1319A>T (p.Asp440Val)
c.119+29A>T
n.801A>T
3g.52403772T>CCA353101724BAP1c.1373A>G (p.Asp458Gly)
c.1319A>G (p.Asp440Gly)
c.119+29A>G
n.801A>G
dbSNP
3g.52403772T>GCA353101727BAP1c.1373A>C (p.Asp458Ala)
c.1319A>C (p.Asp440Ala)
c.119+29A>C
n.801A>C
3g.52403772T=CA1364837066BAP1c.1373A= (p.Asp458=)
c.1319A= (p.Asp440=)
c.119+29A=
n.801A=
3g.52403773C>ACA353101737BAP1c.1372G>T (p.Asp458Tyr)
c.1318G>T (p.Asp440Tyr)
c.119+28G>T
n.800G>T
3g.52403773C>GCA353101730BAP1c.1372G>C (p.Asp458His)
c.1318G>C (p.Asp440His)
c.119+28G>C
n.800G>C
3g.52403773C>TCA353101734BAP1c.1372G>A (p.Asp458Asn)
c.1318G>A (p.Asp440Asn)
c.119+28G>A
n.800G>A
ClinVar gnomAD v4
3g.52403774C>ACA353101742BAP1c.1371G>T (p.Lys457Asn)
c.1317G>T (p.Lys439Asn)
c.119+27G>T
n.799G>T
ClinVar dbSNP
3g.52403774C=CA1364837073BAP1c.1371G= (p.Lys457=)
c.1317G= (p.Lys439=)
c.119+27G=
n.799G=
3g.52403774C>GCA353101743BAP1c.1371G>C (p.Lys457Asn)
c.1317G>C (p.Lys439Asn)
c.119+27G>C
n.799G>C
3g.52403774C>TCA433886366BAP1c.1371G>A (p.Lys457=)
c.1317G>A (p.Lys439=)
c.119+27G>A
n.799G>A
ClinVar dbSNP
3g.52403775T>ACA353101749BAP1c.1370A>T (p.Lys457Met)
c.1316A>T (p.Lys439Met)
c.119+26A>T
n.798A>T
3g.52403775T>CCA353101752BAP1c.1370A>G (p.Lys457Arg)
c.1316A>G (p.Lys439Arg)
c.119+26A>G
n.798A>G
ClinVar dbSNP gnomAD v4
3g.52403775T>GCA353101755BAP1c.1370A>C (p.Lys457Thr)
c.1316A>C (p.Lys439Thr)
c.119+26A>C
n.798A>C
3g.52403775T=CA1364837078BAP1c.1370A= (p.Lys457=)
c.1316A= (p.Lys439=)
c.119+26A=
n.798A=
3g.52403776T>ACA353101766BAP1c.1369A>T (p.Lys457Ter)
c.1315A>T (p.Lys439Ter)
c.119+25A>T
n.797A>T
3g.52403776T>CCA353101762BAP1c.1369A>G (p.Lys457Glu)
c.1315A>G (p.Lys439Glu)
c.119+25A>G
n.797A>G
3g.52403776T>GCA353101758BAP1c.1369A>C (p.Lys457Gln)
c.1315A>C (p.Lys439Gln)
c.119+25A>C
n.797A>C
3g.52403777C>ACA353101768BAP1c.1368G>T (p.Gln456His)
c.1314G>T (p.Gln438His)
c.119+24G>T
n.796G>T
3g.52403777C>GCA353101770BAP1c.1368G>C (p.Gln456His)
c.1314G>C (p.Gln438His)
c.119+24G>C
n.796G>C
3g.52403777C>TCA433886367BAP1c.1368G>A (p.Gln456=)
c.1314G>A (p.Gln438=)
c.119+24G>A
n.796G>A
3g.52403778T>ACA353101777BAP1c.1367A>T (p.Gln456Leu)
c.1313A>T (p.Gln438Leu)
c.119+23A>T
n.795A>T
3g.52403778T>CCA353101778BAP1c.1367A>G (p.Gln456Arg)
c.1313A>G (p.Gln438Arg)
c.119+23A>G
n.795A>G
3g.52403778T>GCA353101782BAP1c.1367A>C (p.Gln456Pro)
c.1313A>C (p.Gln438Pro)
c.119+23A>C
n.795A>C
3g.52403779G>ACA353101786BAP1c.1366C>T (p.Gln456Ter)
c.1312C>T (p.Gln438Ter)
c.119+22C>T
n.794C>T
3g.52403779G>CCA353101790BAP1c.1366C>G (p.Gln456Glu)
c.1312C>G (p.Gln438Glu)
c.119+22C>G
n.794C>G
ClinVar
3g.52403779G>TCA353101791BAP1c.1366C>A (p.Gln456Lys)
c.1312C>A (p.Gln438Lys)
c.119+22C>A
n.794C>A
3g.52403780G>ACA433886368BAP1c.1365C>T (p.Ser455=)
c.1311C>T (p.Ser437=)
c.119+21C>T
n.793C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403780G>CCA433886369BAP1c.1365C>G (p.Ser455=)
c.1311C>G (p.Ser437=)
c.119+21C>G
n.793C>G
3g.52403780G=CA1364837080BAP1c.1365C= (p.Ser455=)
c.1311C= (p.Ser437=)
c.119+21C=
n.793C=
3g.52403780G>TCA433886370BAP1c.1365C>A (p.Ser455=)
c.1311C>A (p.Ser437=)
c.119+21C>A
n.793C>A
ClinVar dbSNP
3g.52403781G>ACA353101792BAP1c.1364C>T (p.Ser455Phe)
c.1310C>T (p.Ser437Phe)
c.119+20C>T
n.792C>T
3g.52403781G>CCA353101794BAP1c.1364C>G (p.Ser455Cys)
c.1310C>G (p.Ser437Cys)
c.119+20C>G
n.792C>G
3g.52403781G>TCA353101797BAP1c.1364C>A (p.Ser455Tyr)
c.1310C>A (p.Ser437Tyr)
c.119+20C>A
n.792C>A
3g.52403782A=CA1364837085BAP1c.1363T= (p.Ser455=)
c.1309T= (p.Ser437=)
c.119+19T=
n.791T=
3g.52403782A>CCA353101800BAP1c.1363T>G (p.Ser455Ala)
c.1309T>G (p.Ser437Ala)
c.119+19T>G
n.791T>G
gnomAD v4
3g.52403782A>GCA353101802BAP1c.1363T>C (p.Ser455Pro)
c.1309T>C (p.Ser437Pro)
c.119+19T>C
n.791T>C
ClinVar dbSNP gnomAD v4
3g.52403782A>TCA353101805BAP1c.1363T>A (p.Ser455Thr)
c.1309T>A (p.Ser437Thr)
c.119+19T>A
n.791T>A
3g.52403783C>ACA353101820BAP1c.1362G>T (p.Glu454Asp)
c.1308G>T (p.Glu436Asp)
c.119+18G>T
n.790G>T
3g.52403783C=CA1364837092BAP1c.1362G= (p.Glu454=)
c.1308G= (p.Glu436=)
c.119+18G=
n.790G=
3g.52403783C>GCA353101817BAP1c.1362G>C (p.Glu454Asp)
c.1308G>C (p.Glu436Asp)
c.119+18G>C
n.790G>C
dbSNP
3g.52403783C>TCA2436815BAP1c.1362G>A (p.Glu454=)
c.1308G>A (p.Glu436=)
c.119+18G>A
n.790G>A
ClinVar dbSNP ExAC gnomAD v4
3g.52403784T>ACA353101825BAP1c.1361A>T (p.Glu454Val)
c.1307A>T (p.Glu436Val)
c.119+17A>T
n.789A>T
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403784T>CCA353101838BAP1c.1361A>G (p.Glu454Gly)
c.1307A>G (p.Glu436Gly)
c.119+17A>G
n.789A>G
dbSNP gnomAD v2 gnomAD v4
3g.52403784T>GCA353101841BAP1c.1361A>C (p.Glu454Ala)
c.1307A>C (p.Glu436Ala)
c.119+17A>C
n.789A>C
3g.52403784T=CA1364837098BAP1c.1361A= (p.Glu454=)
c.1307A= (p.Glu436=)
c.119+17A=
n.789A=
3g.52403785C>ACA353101843BAP1c.1360G>T (p.Glu454Ter)
c.1306G>T (p.Glu436Ter)
c.119+16G>T
n.788G>T
3g.52403785C>GCA353101844BAP1c.1360G>C (p.Glu454Gln)
c.1306G>C (p.Glu436Gln)
c.119+16G>C
n.788G>C
3g.52403785C>TCA353101845BAP1c.1360G>A (p.Glu454Lys)
c.1306G>A (p.Glu436Lys)
c.119+16G>A
n.788G>A
3g.52403785_52403787delinsCTTCA1364837107BAP1c.1358_1360delinsAAG (p.Lys453=)
c.1304_1306delinsAAG (p.Lys435=)
c.119+14_119+16delinsAAG
n.786_788delinsAAG
3g.52403786T>ACA353101849BAP1c.1359A>T (p.Lys453Asn)
c.1305A>T (p.Lys435Asn)
c.119+15A>T
n.787A>T
3g.52403786T>CCA433886371BAP1c.1359A>G (p.Lys453=)
c.1305A>G (p.Lys435=)
c.119+15A>G
n.787A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403786T>GCA353101851BAP1c.1359A>C (p.Lys453Asn)
c.1305A>C (p.Lys435Asn)
c.119+15A>C
n.787A>C
3g.52403786T=CA1364837117BAP1c.1359A= (p.Lys453=)
c.1305A= (p.Lys435=)
c.119+15A=
n.787A=
3g.52403786delinsCCCA2579984146BAP1c.1359delinsGG (p.Glu454GlyfsTer15)
c.1305delinsGG (p.Glu436GlyfsTer15)
c.119+15delinsGG
n.787delinsGG
3g.52403788dupCA2579984147BAP1c.1359dup (p.Glu454ArgfsTer15)
c.1305dup (p.Glu436ArgfsTer15)
c.119+15dup
n.787dup
ClinVar
3g.52403787_52403788delCA543056568BAP1c.1358_1359del (p.Lys453ArgfsTer15)
c.1304_1305del (p.Lys435ArgfsTer15)
c.119+14_119+15del
n.786_787del
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.52403787T>ACA353101857BAP1c.1358A>T (p.Lys453Ile)
c.1304A>T (p.Lys435Ile)
c.119+14A>T
n.786A>T
3g.52403787T>CCA2436816BAP1c.1358A>G (p.Lys453Arg)
c.1304A>G (p.Lys435Arg)
c.119+14A>G
n.786A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403787T>GCA353101860BAP1c.1358A>C (p.Lys453Thr)
c.1304A>C (p.Lys435Thr)
c.119+14A>C
n.786A>C
ClinVar dbSNP
3g.52403787T=CA1364837122BAP1c.1358A= (p.Lys453=)
c.1304A= (p.Lys435=)
c.119+14A=
n.786A=
3g.52403788T>ACA353101861BAP1c.1357A>T (p.Lys453Ter)
c.1303A>T (p.Lys435Ter)
c.119+13A>T
n.785A>T
COSMIC
3g.52403788T>CCA353101862BAP1c.1357A>G (p.Lys453Glu)
c.1303A>G (p.Lys435Glu)
c.119+13A>G
n.785A>G
ClinVar dbSNP COSMIC
3g.52403788T>GCA353101865BAP1c.1357A>C (p.Lys453Gln)
c.1303A>C (p.Lys435Gln)
c.119+13A>C
n.785A>C
ClinVar
3g.52403788T=CA1364837128BAP1c.1357A= (p.Lys453=)
c.1303A= (p.Lys435=)
c.119+13A=
n.785A=
3g.52403789G>ACA433886372BAP1c.1356C>T (p.Leu452=)
c.1302C>T (p.Leu434=)
c.119+12C>T
n.784C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403789G>CCA433886373BAP1c.1356C>G (p.Leu452=)
c.1302C>G (p.Leu434=)
c.119+12C>G
n.784C>G
3g.52403789G=CA1364837130BAP1c.1356C= (p.Leu452=)
c.1302C= (p.Leu434=)
c.119+12C=
n.784C=
3g.52403789G>TCA433886374BAP1c.1356C>A (p.Leu452=)
c.1302C>A (p.Leu434=)
c.119+12C>A
n.784C>A
3g.52403790A>CCA353101870BAP1c.1355T>G (p.Leu452Arg)
c.1301T>G (p.Leu434Arg)
c.119+11T>G
n.783T>G
3g.52403790A>GCA353101871BAP1c.1355T>C (p.Leu452Pro)
c.1301T>C (p.Leu434Pro)
c.119+11T>C
n.783T>C
3g.52403790A>TCA353101868BAP1c.1355T>A (p.Leu452His)
c.1301T>A (p.Leu434His)
c.119+11T>A
n.783T>A
dbSNP
3g.52403791G>ACA353101872BAP1c.1354C>T (p.Leu452Phe)
c.1300C>T (p.Leu434Phe)
c.119+10C>T
n.782C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403791G>CCA353101873BAP1c.1354C>G (p.Leu452Val)
c.1300C>G (p.Leu434Val)
c.119+10C>G
n.782C>G
ClinVar dbSNP
3g.52403791G=CA1364837136BAP1c.1354C= (p.Leu452=)
c.1300C= (p.Leu434=)
c.119+10C=
n.782C=
3g.52403791G>TCA353101874BAP1c.1354C>A (p.Leu452Ile)
c.1300C>A (p.Leu434Ile)
c.119+10C>A
n.782C>A
3g.52403792C>ACA353101875BAP1c.1353G>T (p.Lys451Asn)
c.1299G>T (p.Lys433Asn)
c.119+9G>T
n.781G>T
gnomAD v4
3g.52403792C=CA1364837142BAP1c.1353G= (p.Lys451=)
c.1299G= (p.Lys433=)
c.119+9G=
n.781G=
3g.52403792C>GCA353101878BAP1c.1353G>C (p.Lys451Asn)
c.1299G>C (p.Lys433Asn)
c.119+9G>C
n.781G>C
dbSNP gnomAD v2 gnomAD v4
3g.52403792C>TCA433886375BAP1c.1353G>A (p.Lys451=)
c.1299G>A (p.Lys433=)
c.119+9G>A
n.781G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403793T>ACA353101883BAP1c.1352A>T (p.Lys451Met)
c.1298A>T (p.Lys433Met)
c.119+8A>T
n.780A>T
3g.52403793T>CCA353101886BAP1c.1352A>G (p.Lys451Arg)
c.1298A>G (p.Lys433Arg)
c.119+8A>G
n.780A>G
dbSNP
3g.52403793T>GCA353101891BAP1c.1352A>C (p.Lys451Thr)
c.1298A>C (p.Lys433Thr)
c.119+8A>C
n.780A>C
3g.52403793T=CA1364837147BAP1c.1352A= (p.Lys451=)
c.1298A= (p.Lys433=)
c.119+8A=
n.780A=
3g.52403794T>ACA353101895BAP1c.1351A>T (p.Lys451Ter)
c.1297A>T (p.Lys433Ter)
c.119+7A>T
n.779A>T
3g.52403794T>CCA353101898BAP1c.1351A>G (p.Lys451Glu)
c.1297A>G (p.Lys433Glu)
c.119+7A>G
n.779A>G
3g.52403794T>GCA353101900BAP1c.1351A>C (p.Lys451Gln)
c.1297A>C (p.Lys433Gln)
c.119+7A>C
n.779A>C
3g.52403795C>ACA353101903BAP1c.1350G>T (p.Glu450Asp)
c.1296G>T (p.Glu432Asp)
c.119+6G>T
n.778G>T
3g.52403795C>GCA353101905BAP1c.1350G>C (p.Glu450Asp)
c.1296G>C (p.Glu432Asp)
c.119+6G>C
n.778G>C
3g.52403795C>TCA433886376BAP1c.1350G>A (p.Glu450=)
c.1296G>A (p.Glu432=)
c.119+6G>A
n.778G>A
ClinVar dbSNP
3g.52403796T>ACA353101915BAP1c.1349A>T (p.Glu450Val)
c.1295A>T (p.Glu432Val)
c.119+5A>T
n.777A>T
3g.52403796T>CCA353101907BAP1c.1349A>G (p.Glu450Gly)
c.1295A>G (p.Glu432Gly)
c.119+5A>G
n.777A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403796T>GCA353101911BAP1c.1349A>C (p.Glu450Ala)
c.1295A>C (p.Glu432Ala)
c.119+5A>C
n.777A>C
3g.52403796T=CA1364837152BAP1c.1349A= (p.Glu450=)
c.1295A= (p.Glu432=)
c.119+5A=
n.777A=
3g.52403797C>ACA353101922BAP1c.1348G>T (p.Glu450Ter)
c.1294G>T (p.Glu432Ter)
c.119+4G>T
n.776G>T
3g.52403797C>GCA353101928BAP1c.1348G>C (p.Glu450Gln)
c.1294G>C (p.Glu432Gln)
c.119+4G>C
n.776G>C
dbSNP
3g.52403797C>TCA353101931BAP1c.1348G>A (p.Glu450Lys)
c.1294G>A (p.Glu432Lys)
c.119+4G>A
n.776G>A
dbSNP
3g.52403798A>CCA433886377BAP1c.1347T>G (p.Ala449=)
c.1293T>G (p.Ala431=)
c.119+3T>G
n.775T>G
3g.52403798A>GCA433886378BAP1c.1347T>C (p.Ala449=)
c.1293T>C (p.Ala431=)
c.119+3T>C
n.775T>C
3g.52403798A>TCA433886379BAP1c.1347T>A (p.Ala449=)
c.1293T>A (p.Ala431=)
c.119+3T>A
n.775T>A
ClinVar
3g.52403799G>ACA353101933BAP1c.1346C>T (p.Ala449Val)
c.1292C>T (p.Ala431Val)
c.119+2C>T
n.774C>T
3g.52403799G>CCA353101934BAP1c.1346C>G (p.Ala449Gly)
c.1292C>G (p.Ala431Gly)
c.119+2C>G
n.774C>G
dbSNP gnomAD v3 gnomAD v4
3g.52403799G=CA1364837154BAP1c.1346C= (p.Ala449=)
c.1292C= (p.Ala431=)
c.119+2C=
n.774C=
3g.52403799G>TCA353101936BAP1c.1346C>A (p.Ala449Asp)
c.1292C>A (p.Ala431Asp)
c.119+2C>A
n.774C>A
3g.52403800C>ACA353101938BAP1c.1345G>T (p.Ala449Ser)
c.1291G>T (p.Ala431Ser)
c.119+1G>T
n.773G>T
ClinVar dbSNP gnomAD v4
3g.52403800C=CA1364837158BAP1c.1345G= (p.Ala449=)
c.1291G= (p.Ala431=)
c.119+1G=
n.773G=
3g.52403800C>GCA353101940BAP1c.1345G>C (p.Ala449Pro)
c.1291G>C (p.Ala431Pro)
c.119+1G>C
n.773G>C
3g.52403800C>TCA2436817BAP1c.1345G>A (p.Ala449Thr)
c.1291G>A (p.Ala431Thr)
c.119+1G>A
n.773G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.52403801C>ACA353101942BAP1c.1344G>T (p.Leu448Phe)
c.1290G>T (p.Leu430Phe)
c.119G>T
n.772G>T
3g.52403801C=CA1364837163BAP1c.1344G= (p.Leu448=)
c.1290G= (p.Leu430=)
c.119G=
n.772G=
3g.52403801C>GCA353101945BAP1c.1344G>C (p.Leu448Phe)
c.1290G>C (p.Leu430Phe)
c.119G>C
n.772G>C
3g.52403801C>TCA2436818BAP1c.1344G>A (p.Leu448=)
c.1290G>A (p.Leu430=)
c.119G>A
n.772G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403802A=CA1364837171BAP1c.1343T= (p.Leu448=)
c.1289T= (p.Leu430=)
c.118T=
n.771T=
3g.52403802A>CCA353101948BAP1c.1343T>G (p.Leu448Trp)
c.1289T>G (p.Leu430Trp)
c.118T>G
n.771T>G
dbSNP
3g.52403802A>GCA353101955BAP1c.1343T>C (p.Leu448Ser)
c.1289T>C (p.Leu430Ser)
c.118T>C
n.771T>C
3g.52403802A>TCA353101952BAP1c.1343T>A (p.Leu448Ter)
c.1289T>A (p.Leu430Ter)
c.118T>A
n.771T>A
3g.52403803delCA645529916BAP1c.1343del (p.Leu448TrpfsTer?)
c.1289del (p.Leu430TrpfsTer?)
c.118del
n.771del
COSMIC
3g.52403803A=CA1364837174BAP1c.1342T= (p.Leu448=)
c.1288T= (p.Leu430=)
c.117T=
n.770T=
3g.52403803A>CCA353101963BAP1c.1342T>G (p.Leu448Val)
c.1288T>G (p.Leu430Val)
c.117T>G
n.770T>G
3g.52403803A>GCA74740895BAP1c.1342T>C (p.Leu448=)
c.1288T>C (p.Leu430=)
c.117T>C
n.770T>C
ClinVar dbSNP
3g.52403803A>TCA353101980BAP1c.1342T>A (p.Leu448Met)
c.1288T>A (p.Leu430Met)
c.117T>A
n.770T>A
3g.52403804G>ACA433886380BAP1c.1341C>T (p.Val447=)
c.1287C>T (p.Val429=)
c.116C>T
n.769C>T
3g.52403804G>CCA433886381BAP1c.1341C>G (p.Val447=)
c.1287C>G (p.Val429=)
c.116C>G
n.769C>G
dbSNP
3g.52403804G=CA1364837178BAP1c.1341C= (p.Val447=)
c.1287C= (p.Val429=)
c.116C=
n.769C=
3g.52403804G>TCA433886382BAP1c.1341C>A (p.Val447=)
c.1287C>A (p.Val429=)
c.116C>A
n.769C>A
ClinVar dbSNP
3g.52403805A=CA1364837183BAP1c.1340T= (p.Val447=)
c.1286T= (p.Val429=)
c.115T=
n.768T=
3g.52403805A>CCA353101986BAP1c.1340T>G (p.Val447Gly)
c.1286T>G (p.Val429Gly)
c.115T>G
n.768T>G
3g.52403805A>GCA353101991BAP1c.1340T>C (p.Val447Ala)
c.1286T>C (p.Val429Ala)
c.115T>C
n.768T>C
ClinVar dbSNP
3g.52403805A>TCA353101998BAP1c.1340T>A (p.Val447Asp)
c.1286T>A (p.Val429Asp)
c.115T>A
n.768T>A
3g.52403806C>ACA353102002BAP1c.1339G>T (p.Val447Phe)
c.1285G>T (p.Val429Phe)
c.114G>T
n.767G>T
3g.52403806C=CA1364837190BAP1c.1339G= (p.Val447=)
c.1285G= (p.Val429=)
c.114G=
n.767G=
3g.52403806C>GCA353102022BAP1c.1339G>C (p.Val447Leu)
c.1285G>C (p.Val429Leu)
c.114G>C
n.767G>C
3g.52403806C>TCA2436819BAP1c.1339G>A (p.Val447Ile)
c.1285G>A (p.Val429Ile)
c.114G>A
n.767G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403807G>ACA2436820BAP1c.1338C>T (p.Asn446=)
c.1284C>T (p.Asn428=)
c.113C>T
n.766C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.52403807G>CCA353102029BAP1c.1338C>G (p.Asn446Lys)
c.1284C>G (p.Asn428Lys)
c.113C>G
n.766C>G
3g.52403807G=CA1364837198BAP1c.1338C= (p.Asn446=)
c.1284C= (p.Asn428=)
c.113C=
n.766C=
3g.52403807G>TCA353102030BAP1c.1338C>A (p.Asn446Lys)
c.1284C>A (p.Asn428Lys)
c.113C>A
n.766C>A
gnomAD v4
3g.52403808T>ACA2436822BAP1c.1337A>T (p.Asn446Ile)
c.1283A>T (p.Asn428Ile)
c.112A>T
n.765A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403808T>CCA2436821BAP1c.1337A>G (p.Asn446Ser)
c.1283A>G (p.Asn428Ser)
c.112A>G
n.765A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403808T>GCA353102035BAP1c.1337A>C (p.Asn446Thr)
c.1283A>C (p.Asn428Thr)
c.112A>C
n.765A>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403808T=CA1364837204BAP1c.1337A= (p.Asn446=)
c.1283A= (p.Asn428=)
c.112A=
n.765A=
3g.52403809delCA2586972746BAP1c.1337del (p.Asn446ThrfsTer?)
c.1283del (p.Asn428ThrfsTer?)
c.112del
n.765del
3g.52403809T>ACA353102044BAP1c.1336A>T (p.Asn446Tyr)
c.1282A>T (p.Asn428Tyr)
c.111A>T
n.764A>T
3g.52403809T>CCA353102039BAP1c.1336A>G (p.Asn446Asp)
c.1282A>G (p.Asn428Asp)
c.111A>G
n.764A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403809T>GCA353102042BAP1c.1336A>C (p.Asn446His)
c.1282A>C (p.Asn428His)
c.111A>C
n.764A>C
3g.52403809T=CA1364837217BAP1c.1336A= (p.Asn446=)
c.1282A= (p.Asn428=)
c.111A=
n.764A=
3g.52403810G>ACA433886383BAP1c.1335C>T (p.Ile445=)
c.1281C>T (p.Ile427=)
c.110C>T
n.763C>T
3g.52403810G>CCA353102054BAP1c.1335C>G (p.Ile445Met)
c.1281C>G (p.Ile427Met)
c.110C>G
n.763C>G
3g.52403810G=CA1364837220BAP1c.1335C= (p.Ile445=)
c.1281C= (p.Ile427=)
c.110C=
n.763C=
3g.52403810G>TCA433886384BAP1c.1335C>A (p.Ile445=)
c.1281C>A (p.Ile427=)
c.110C>A
n.763C>A
ClinVar dbSNP
3g.52403811A=CA1364837225BAP1c.1334T= (p.Ile445=)
c.1280T= (p.Ile427=)
c.109T=
n.762T=
3g.52403811A>CCA353102055BAP1c.1334T>G (p.Ile445Ser)
c.1280T>G (p.Ile427Ser)
c.109T>G
n.762T>G
3g.52403811A>GCA2436823BAP1c.1334T>C (p.Ile445Thr)
c.1280T>C (p.Ile427Thr)
c.109T>C
n.762T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403811A>TCA353102056BAP1c.1334T>A (p.Ile445Asn)
c.1280T>A (p.Ile427Asn)
c.109T>A
n.762T>A
dbSNP
3g.52403812T>ACA353102059BAP1c.1333A>T (p.Ile445Phe)
c.1279A>T (p.Ile427Phe)
c.108A>T
n.761A>T
3g.52403812T>CCA353102065BAP1c.1333A>G (p.Ile445Val)
c.1279A>G (p.Ile427Val)
c.108A>G
n.761A>G
ClinVar gnomAD v4
3g.52403812T>GCA353102066BAP1c.1333A>C (p.Ile445Leu)
c.1279A>C (p.Ile427Leu)
c.108A>C
n.761A>C
3g.52403813G>ACA433886385BAP1c.1332C>T (p.Thr444=)
c.1278C>T (p.Thr426=)
c.107C>T
n.760C>T
ClinVar dbSNP
3g.52403813G>CCA433886386BAP1c.1332C>G (p.Thr444=)
c.1278C>G (p.Thr426=)
c.107C>G
n.760C>G
3g.52403813G=CA1364837231BAP1c.1332C= (p.Thr444=)
c.1278C= (p.Thr426=)
c.107C=
n.760C=
3g.52403813G>TCA433886387BAP1c.1332C>A (p.Thr444=)
c.1278C>A (p.Thr426=)
c.107C>A
n.760C>A
3g.52403814G>ACA353102070BAP1c.1331C>T (p.Thr444Ile)
c.1277C>T (p.Thr426Ile)
c.106C>T
n.759C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.52403814G>CCA353102076BAP1c.1331C>G (p.Thr444Ser)
c.1277C>G (p.Thr426Ser)
c.106C>G
n.759C>G
3g.52403814G=CA1364837237BAP1c.1331C= (p.Thr444=)
c.1277C= (p.Thr426=)
c.106C=
n.759C=
3g.52403814G>TCA353102080BAP1c.1331C>A (p.Thr444Asn)
c.1277C>A (p.Thr426Asn)
c.106C>A
n.759C>A
3g.52403815T>ACA353102083BAP1c.1330A>T (p.Thr444Ser)
c.1276A>T (p.Thr426Ser)
c.105A>T
n.758A>T
3g.52403815T>CCA2436824BAP1c.1330A>G (p.Thr444Ala)
c.1276A>G (p.Thr426Ala)
c.105A>G
n.758A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403815T>GCA353102082BAP1c.1330A>C (p.Thr444Pro)
c.1276A>C (p.Thr426Pro)
c.105A>C
n.758A>C
ClinVar
3g.52403815T=CA1364837244BAP1c.1330A= (p.Thr444=)
c.1276A= (p.Thr426=)
c.105A=
n.758A=
3g.52403816G>ACA433886388BAP1c.1329C>T (p.Asn443=)
c.1275C>T (p.Asn425=)
c.104C>T
n.757C>T
ClinVar dbSNP
3g.52403816G>CCA353102084BAP1c.1329C>G (p.Asn443Lys)
c.1275C>G (p.Asn425Lys)
c.104C>G
n.757C>G
gnomAD v4
3g.52403816G=CA1364837251BAP1c.1329C= (p.Asn443=)
c.1275C= (p.Asn425=)
c.104C=
n.757C=
3g.52403816G>TCA353102085BAP1c.1329C>A (p.Asn443Lys)
c.1275C>A (p.Asn425Lys)
c.104C>A
n.757C>A
dbSNP gnomAD v3 gnomAD v4
3g.52403817T>ACA2436825BAP1c.1328A>T (p.Asn443Ile)
c.1274A>T (p.Asn425Ile)
c.103A>T
n.756A>T
dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403817T>CCA2436826BAP1c.1328A>G (p.Asn443Ser)
c.1274A>G (p.Asn425Ser)
c.103A>G
n.756A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403817T>GCA353102089BAP1c.1328A>C (p.Asn443Thr)
c.1274A>C (p.Asn425Thr)
c.103A>C
n.756A>C
3g.52403817T=CA1364837256BAP1c.1328A= (p.Asn443=)
c.1274A= (p.Asn425=)
c.103A=
n.756A=
3g.52403818T>ACA353102091BAP1c.1327A>T (p.Asn443Tyr)
c.1273A>T (p.Asn425Tyr)
c.102A>T
n.755A>T
ClinVar
3g.52403818T>CCA353102093BAP1c.1327A>G (p.Asn443Asp)
c.1273A>G (p.Asn425Asp)
c.102A>G
n.755A>G
ClinVar
3g.52403818T>GCA353102096BAP1c.1327A>C (p.Asn443His)
c.1273A>C (p.Asn425His)
c.102A>C
n.755A>C
3g.52403819G>ACA433886389BAP1c.1326C>T (p.Pro442=)
c.1272C>T (p.Pro424=)
c.101C>T
n.754C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.52403819G>CCA433886390BAP1c.1326C>G (p.Pro442=)
c.1272C>G (p.Pro424=)
c.101C>G
n.754C>G
3g.52403819G=CA1364837260BAP1c.1326C= (p.Pro442=)
c.1272C= (p.Pro424=)
c.101C=
n.754C=
3g.52403819G>TCA433886391BAP1c.1326C>A (p.Pro442=)
c.1272C>A (p.Pro424=)
c.101C>A
n.754C>A
3g.52403820G>ACA353102098BAP1c.1325C>T (p.Pro442Leu)
c.1271C>T (p.Pro424Leu)
c.100C>T
n.753C>T
ClinVar
3g.52403820G>CCA157247BAP1c.1325C>G (p.Pro442Arg)
c.1271C>G (p.Pro424Arg)
c.100C>G
n.753C>G
ClinVar dbSNP
3g.52403820G=CA1364837265BAP1c.1325C= (p.Pro442=)
c.1271C= (p.Pro424=)
c.100C=
n.753C=
3g.52403820G>TCA353102100BAP1c.1325C>A (p.Pro442His)
c.1271C>A (p.Pro424His)
c.100C>A
n.753C>A
3g.52403820_52403823delinsGGCTCA1364837267BAP1c.1322_1325delinsAGCC (p.Gln441=)
c.1268_1271delinsAGCC (p.Gln423=)
c.97_100delinsAGCC
n.750_753delinsAGCC
3g.52403821G>ACA353102105BAP1c.1324C>T (p.Pro442Ser)
c.1270C>T (p.Pro424Ser)
c.99C>T
n.752C>T
3g.52403821G>CCA353102104BAP1c.1324C>G (p.Pro442Ala)
c.1270C>G (p.Pro424Ala)
c.99C>G
n.752C>G
3g.52403821G>TCA353102103BAP1c.1324C>A (p.Pro442Thr)
c.1270C>A (p.Pro424Thr)
c.99C>A
n.752C>A
3g.52403823_52403825delCA2436827BAP1c.1322_1324del (p.Gln441del)
c.1268_1270del (p.Gln423del)
c.97_99del
n.750_752del
dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403822C>ACA353102106BAP1c.1323G>T (p.Gln441His)
c.1269G>T (p.Gln423His)
c.98G>T
n.751G>T
3g.52403822C=CA1364837279BAP1c.1323G= (p.Gln441=)
c.1269G= (p.Gln423=)
c.98G=
n.751G=
3g.52403822C>GCA353102109BAP1c.1323G>C (p.Gln441His)
c.1269G>C (p.Gln423His)
c.98G>C
n.751G>C
dbSNP
3g.52403822C>TCA2436828BAP1c.1323G>A (p.Gln441=)
c.1269G>A (p.Gln423=)
c.98G>A
n.751G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403823T>ACA353102125BAP1c.1322A>T (p.Gln441Leu)
c.1268A>T (p.Gln423Leu)
c.97A>T
n.750A>T
3g.52403823T>CCA2436829BAP1c.1322A>G (p.Gln441Arg)
c.1268A>G (p.Gln423Arg)
c.97A>G
n.750A>G
dbSNP ExAC gnomAD v2 gnomAD v4
3g.52403823T>GCA353102130BAP1c.1322A>C (p.Gln441Pro)
c.1268A>C (p.Gln423Pro)
c.97A>C
n.750A>C
3g.52403823T=CA1364837281BAP1c.1322A= (p.Gln441=)
c.1268A= (p.Gln423=)
c.97A=
n.750A=
3g.52403824G>ACA353102138BAP1c.1321C>T (p.Gln441Ter)
c.1267C>T (p.Gln423Ter)
c.96C>T
n.749C>T
ClinVar dbSNP
3g.52403824G>CCA353102141BAP1c.1321C>G (p.Gln441Glu)
c.1267C>G (p.Gln423Glu)
c.96C>G
n.749C>G
dbSNP
3g.52403824G=CA1364837286BAP1c.1321C= (p.Gln441=)
c.1267C= (p.Gln423=)
c.96C=
n.749C=
3g.52403824G>TCA353102142BAP1c.1321C>A (p.Gln441Lys)
c.1267C>A (p.Gln423Lys)
c.96C>A
n.749C>A
3g.52403825C>ACA433886392BAP1c.1320G>T (p.Leu440=)
c.1266G>T (p.Leu422=)
c.95G>T
n.748G>T
3g.52403825C=CA1364837290BAP1c.1320G= (p.Leu440=)
c.1266G= (p.Leu422=)
c.95G=
n.748G=
3g.52403825C>GCA433886393BAP1c.1320G>C (p.Leu440=)
c.1266G>C (p.Leu422=)
c.95G>C
n.748G>C
3g.52403825C>TCA2436830BAP1c.1320G>A (p.Leu440=)
c.1266G>A (p.Leu422=)
c.95G>A
n.748G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.52403826A=CA1364837292BAP1c.1319T= (p.Leu440=)
c.1265T= (p.Leu422=)
c.94T=
n.747T=
3g.52403826A>CCA353102147BAP1c.1319T>G (p.Leu440Arg)
c.1265T>G (p.Leu422Arg)
c.94T>G
n.747T>G
3g.52403826A>GCA353102150BAP1c.1319T>C (p.Leu440Pro)
c.1265T>C (p.Leu422Pro)
c.94T>C
n.747T>C
ClinVar dbSNP
3g.52403826A>TCA353102152BAP1c.1319T>A (p.Leu440Gln)
c.1265T>A (p.Leu422Gln)
c.94T>A
n.747T>A
3g.52403826_52403827insTCA2586972748BAP1c.1318_1319insA (p.Leu440HisfsTer11)
c.1264_1265insA (p.Leu422HisfsTer11)
c.93_94insA
n.746_747insA
3g.52403827G>ACA433886394BAP1c.1318C>T (p.Leu440=)
c.1264C>T (p.Leu422=)
c.93C>T
n.746C>T
ClinVar dbSNP
3g.52403827G>CCA353102163BAP1c.1318C>G (p.Leu440Val)
c.1264C>G (p.Leu422Val)
c.93C>G
n.746C>G
ClinVar
3g.52403827G>TCA353102154BAP1c.1318C>A (p.Leu440Met)
c.1264C>A (p.Leu422Met)
c.93C>A
n.746C>A
3g.52403828C>ACA433886395BAP1c.1317G>T (p.Val439=)
c.1263G>T (p.Val421=)
c.92G>T
n.745G>T
ClinVar
3g.52403828C>GCA433886396BAP1c.1317G>C (p.Val439=)
c.1263G>C (p.Val421=)
c.92G>C
n.745G>C
ClinVar
3g.52403828C>TCA433886397BAP1c.1317G>A (p.Val439=)
c.1263G>A (p.Val421=)
c.92G>A
n.745G>A
ClinVar dbSNP
3g.52403829A>CCA353102165BAP1c.1316T>G (p.Val439Gly)
c.1262T>G (p.Val421Gly)
c.91T>G
n.744T>G
3g.52403829A>GCA353102168BAP1c.1316T>C (p.Val439Ala)
c.1262T>C (p.Val421Ala)
c.91T>C
n.744T>C
3g.52403829A>TCA353102166BAP1c.1316T>A (p.Val439Glu)
c.1262T>A (p.Val421Glu)
c.91T>A
n.744T>A
gnomAD v4
3g.52403829_52403831delCA2666001846BAP1c.1314_1316del (p.Val439del)
c.1260_1262del (p.Val421del)
c.89_91del
n.742_744del
gnomAD v4
3g.52403830C>ACA353102170BAP1c.1315G>T (p.Val439Leu)
c.1261G>T (p.Val421Leu)
c.90G>T
n.743G>T
ClinVar dbSNP COSMIC
3g.52403830C=CA1364837294BAP1c.1315G= (p.Val439=)
c.1261G= (p.Val421=)
c.90G=
n.743G=
3g.52403830C>GCA353102175BAP1c.1315G>C (p.Val439Leu)
c.1261G>C (p.Val421Leu)
c.90G>C
n.743G>C
3g.52403830C>TCA353102171BAP1c.1315G>A (p.Val439Met)
c.1261G>A (p.Val421Met)
c.90G>A
n.743G>A
dbSNP
3g.52403831T>ACA433886398BAP1c.1314A>T (p.Ser438=)
c.1260A>T (p.Ser420=)
c.89A>T
n.742A>T
ClinVar
3g.52403831T>CCA433886399BAP1c.1314A>G (p.Ser438=)
c.1260A>G (p.Ser420=)
c.89A>G
n.742A>G
ClinVar
3g.52403831T>GCA433886400BAP1c.1314A>C (p.Ser438=)
c.1260A>C (p.Ser420=)
c.89A>C
n.742A>C
ClinVar dbSNP
3g.52403831T=CA1364837298BAP1c.1314A= (p.Ser438=)
c.1260A= (p.Ser420=)
c.89A=
n.742A=
3g.52403832G>ACA353102176BAP1c.1313C>T (p.Ser438Leu)
c.1259C>T (p.Ser420Leu)
c.88C>T
n.741C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52403832G>CCA353102178BAP1c.1313C>G (p.Ser438Ter)
c.1259C>G (p.Ser420Ter)
c.88C>G
n.741C>G
COSMIC
3g.52403832G=CA1364837302BAP1c.1313C= (p.Ser438=)
c.1259C= (p.Ser420=)
c.88C=
n.741C=
3g.52403832G>TCA353102179BAP1c.1313C>A (p.Ser438Ter)
c.1259C>A (p.Ser420Ter)
c.88C>A
n.741C>A
ClinVar dbSNP
3g.52403833A>CCA353102181BAP1c.1312T>G (p.Ser438Ala)
c.1258T>G (p.Ser420Ala)
c.87T>G
n.740T>G
3g.52403833A>GCA353102186BAP1c.1312T>C (p.Ser438Pro)
c.1258T>C (p.Ser420Pro)
c.87T>C
n.740T>C
gnomAD v4
3g.52403833A>TCA353102189BAP1c.1312T>A (p.Ser438Thr)
c.1258T>A (p.Ser420Thr)
c.87T>A
n.740T>A
dbSNP
3g.52403834delCA2573137327BAP1c.1311del (p.Ser438GlnfsTer?)
c.1257del (p.Ser420GlnfsTer?)
c.86del
n.739del
ClinVar dbSNP
3g.52403834C>ACA433886401BAP1c.1311G>T (p.Leu437=)
c.1257G>T (p.Leu419=)
c.86G>T
n.739G>T
ClinVar
3g.52403834C>GCA433886402BAP1c.1311G>C (p.Leu437=)
c.1257G>C (p.Leu419=)
c.86G>C
n.739G>C
ClinVar dbSNP
3g.52403834C>TCA433886403BAP1c.1311G>A (p.Leu437=)
c.1257G>A (p.Leu419=)
c.86G>A
n.739G>A
gnomAD v4
3g.52403835A=CA1364837305BAP1c.1310T= (p.Leu437=)
c.1256T= (p.Leu419=)
c.85T=
n.738T=
3g.52403835A>CCA353102196BAP1c.1310T>G (p.Leu437Arg)
c.1256T>G (p.Leu419Arg)
c.85T>G
n.738T>G
3g.52403835A>GCA353102191BAP1c.1310T>C (p.Leu437Pro)
c.1256T>C (p.Leu419Pro)
c.85T>C
n.738T>C
ClinVar dbSNP
3g.52403835A>TCA353102194BAP1c.1310T>A (p.Leu437Gln)
c.1256T>A (p.Leu419Gln)
c.85T>A
n.738T>A

Number of alleles fetched