Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.52403728_52403756del | CA2586972745 | BAP1 | c.1393_1421del (p.Ile465GlyfsTer17) c.1339_1367del (p.Ile447GlyfsTer17) c.119+49_119+77del n.821_849del | |
3 | g.52403739C>A | CA353101536 | BAP1 | c.1406G>T (p.Ser469Ile) c.1352G>T (p.Ser451Ile) c.119+62G>T n.834G>T | |
3 | g.52403739C>G | CA353101538 | BAP1 | c.1406G>C (p.Ser469Thr) c.1352G>C (p.Ser451Thr) c.119+62G>C n.834G>C | ClinVar |
3 | g.52403739C>T | CA353101545 | BAP1 | c.1406G>A (p.Ser469Asn) c.1352G>A (p.Ser451Asn) c.119+62G>A n.834G>A | |
3 | g.52403740T>A | CA353101547 | BAP1 | c.1405A>T (p.Ser469Cys) c.1351A>T (p.Ser451Cys) c.119+61A>T n.833A>T | |
3 | g.52403740T>C | CA353101549 | BAP1 | c.1405A>G (p.Ser469Gly) c.1351A>G (p.Ser451Gly) c.119+61A>G n.833A>G | |
3 | g.52403740T>G | CA353101552 | BAP1 | c.1405A>C (p.Ser469Arg) c.1351A>C (p.Ser451Arg) c.119+61A>C n.833A>C | |
3 | g.52403741G>A | CA433886342 | BAP1 | c.1404C>T (p.Ser468=) c.1350C>T (p.Ser450=) c.119+60C>T n.832C>T | dbSNP |
3 | g.52403741G>C | CA353101557 | BAP1 | c.1404C>G (p.Ser468Arg) c.1350C>G (p.Ser450Arg) c.119+60C>G n.832C>G | |
3 | g.52403741G= | CA1364836965 | BAP1 | c.1404C= (p.Ser468=) c.1350C= (p.Ser450=) c.119+60C= n.832C= | |
3 | g.52403741G>T | CA353101554 | BAP1 | c.1404C>A (p.Ser468Arg) c.1350C>A (p.Ser450Arg) c.119+60C>A n.832C>A | |
3 | g.52403741_52403742delinsAG | CA2831039766 | BAP1 | c.1403_1404delinsCT (p.Ser468Thr) c.1349_1350delinsCT (p.Ser450Thr) c.119+59_119+60delinsCT n.831_832delinsCT | |
3 | g.52403742C>A | CA353101558 | BAP1 | c.1403G>T (p.Ser468Ile) c.1349G>T (p.Ser450Ile) c.119+59G>T n.831G>T | |
3 | g.52403742C>G | CA353101559 | BAP1 | c.1403G>C (p.Ser468Thr) c.1349G>C (p.Ser450Thr) c.119+59G>C n.831G>C | |
3 | g.52403742C>T | CA353101560 | BAP1 | c.1403G>A (p.Ser468Asn) c.1349G>A (p.Ser450Asn) c.119+59G>A n.831G>A | gnomAD v4 |
3 | g.52403742_52403743insCAG | CA2513402845 | BAP1 | c.1402_1403insCTG (p.Ser468delinsThrGly) c.1348_1349insCTG (p.Ser450delinsThrGly) c.119+58_119+59insCTG n.830_831insCTG | |
3 | g.52403743T>A | CA353101561 | BAP1 | c.1402A>T (p.Ser468Cys) c.1348A>T (p.Ser450Cys) c.119+58A>T n.830A>T | |
3 | g.52403743T>C | CA353101562 | BAP1 | c.1402A>G (p.Ser468Gly) c.1348A>G (p.Ser450Gly) c.119+58A>G n.830A>G | ClinVar dbSNP |
3 | g.52403743T>G | CA353101564 | BAP1 | c.1402A>C (p.Ser468Arg) c.1348A>C (p.Ser450Arg) c.119+58A>C n.830A>C | |
3 | g.52403743T= | CA1364836971 | BAP1 | c.1402A= (p.Ser468=) c.1348A= (p.Ser450=) c.119+58A= n.830A= | |
3 | g.52403744A= | CA1364836979 | BAP1 | c.1401T= (p.Thr467=) c.1347T= (p.Thr449=) c.119+57T= n.829T= | |
3 | g.52403744A>C | CA433886343 | BAP1 | c.1401T>G (p.Thr467=) c.1347T>G (p.Thr449=) c.119+57T>G n.829T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403744A>G | CA433886344 | BAP1 | c.1401T>C (p.Thr467=) c.1347T>C (p.Thr449=) c.119+57T>C n.829T>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403744A>T | CA433886345 | BAP1 | c.1401T>A (p.Thr467=) c.1347T>A (p.Thr449=) c.119+57T>A n.829T>A | ClinVar |
3 | g.52403745G>A | CA353101567 | BAP1 | c.1400C>T (p.Thr467Ile) c.1346C>T (p.Thr449Ile) c.119+56C>T n.828C>T | |
3 | g.52403745G>C | CA353101569 | BAP1 | c.1400C>G (p.Thr467Ser) c.1346C>G (p.Thr449Ser) c.119+56C>G n.828C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403745G= | CA1364836984 | BAP1 | c.1400C= (p.Thr467=) c.1346C= (p.Thr449=) c.119+56C= n.828C= | |
3 | g.52403745G>T | CA353101581 | BAP1 | c.1400C>A (p.Thr467Asn) c.1346C>A (p.Thr449Asn) c.119+56C>A n.828C>A | |
3 | g.52403746T>A | CA353101586 | BAP1 | c.1399A>T (p.Thr467Ser) c.1345A>T (p.Thr449Ser) c.119+55A>T n.827A>T | |
3 | g.52403746T>C | CA353101590 | BAP1 | c.1399A>G (p.Thr467Ala) c.1345A>G (p.Thr449Ala) c.119+55A>G n.827A>G | |
3 | g.52403746T>G | CA353101592 | BAP1 | c.1399A>C (p.Thr467Pro) c.1345A>C (p.Thr449Pro) c.119+55A>C n.827A>C | ClinVar |
3 | g.52403747C>A | CA353101596 | BAP1 | c.1398G>T (p.Lys466Asn) c.1344G>T (p.Lys448Asn) c.119+54G>T n.826G>T | dbSNP |
3 | g.52403747C= | CA1364836990 | BAP1 | c.1398G= (p.Lys466=) c.1344G= (p.Lys448=) c.119+54G= n.826G= | |
3 | g.52403747C>G | CA353101607 | BAP1 | c.1398G>C (p.Lys466Asn) c.1344G>C (p.Lys448Asn) c.119+54G>C n.826G>C | |
3 | g.52403747C>T | CA433886346 | BAP1 | c.1398G>A (p.Lys466=) c.1344G>A (p.Lys448=) c.119+54G>A n.826G>A | gnomAD v4 |
3 | g.52403748T>A | CA353101616 | BAP1 | c.1397A>T (p.Lys466Met) c.1343A>T (p.Lys448Met) c.119+53A>T n.825A>T | |
3 | g.52403748T>C | CA353101624 | BAP1 | c.1397A>G (p.Lys466Arg) c.1343A>G (p.Lys448Arg) c.119+53A>G n.825A>G | |
3 | g.52403748T>G | CA353101615 | BAP1 | c.1397A>C (p.Lys466Thr) c.1343A>C (p.Lys448Thr) c.119+53A>C n.825A>C | |
3 | g.52403749T>A | CA353101629 | BAP1 | c.1396A>T (p.Lys466Ter) c.1342A>T (p.Lys448Ter) c.119+52A>T n.824A>T | |
3 | g.52403749T>C | CA353101627 | BAP1 | c.1396A>G (p.Lys466Glu) c.1342A>G (p.Lys448Glu) c.119+52A>G n.824A>G | dbSNP |
3 | g.52403749T>G | CA353101628 | BAP1 | c.1396A>C (p.Lys466Gln) c.1342A>C (p.Lys448Gln) c.119+52A>C n.824A>C | ClinVar |
3 | g.52403750G>A | CA433886347 | BAP1 | c.1395C>T (p.Ile465=) c.1341C>T (p.Ile447=) c.119+51C>T n.823C>T | ClinVar dbSNP |
3 | g.52403750G>C | CA353101630 | BAP1 | c.1395C>G (p.Ile465Met) c.1341C>G (p.Ile447Met) c.119+51C>G n.823C>G | |
3 | g.52403750G= | CA1364836998 | BAP1 | c.1395C= (p.Ile465=) c.1341C= (p.Ile447=) c.119+51C= n.823C= | |
3 | g.52403750G>T | CA433886348 | BAP1 | c.1395C>A (p.Ile465=) c.1341C>A (p.Ile447=) c.119+51C>A n.823C>A | |
3 | g.52403751A>C | CA353101631 | BAP1 | c.1394T>G (p.Ile465Ser) c.1340T>G (p.Ile447Ser) c.119+50T>G n.822T>G | |
3 | g.52403751A>G | CA353101632 | BAP1 | c.1394T>C (p.Ile465Thr) c.1340T>C (p.Ile447Thr) c.119+50T>C n.822T>C | |
3 | g.52403751A>T | CA353101633 | BAP1 | c.1394T>A (p.Ile465Asn) c.1340T>A (p.Ile447Asn) c.119+50T>A n.822T>A | dbSNP |
3 | g.52403752T>A | CA353101635 | BAP1 | c.1393A>T (p.Ile465Phe) c.1339A>T (p.Ile447Phe) c.119+49A>T n.821A>T | |
3 | g.52403752T>C | CA74740841 | BAP1 | c.1393A>G (p.Ile465Val) c.1339A>G (p.Ile447Val) c.119+49A>G n.821A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403752T>G | CA353101636 | BAP1 | c.1393A>C (p.Ile465Leu) c.1339A>C (p.Ile447Leu) c.119+49A>C n.821A>C | ClinVar |
3 | g.52403752T= | CA1364837005 | BAP1 | c.1393A= (p.Ile465=) c.1339A= (p.Ile447=) c.119+49A= n.821A= | |
3 | g.52403753G>A | CA433886349 | BAP1 | c.1392C>T (p.Ser464=) c.1338C>T (p.Ser446=) c.119+48C>T n.820C>T | ClinVar dbSNP |
3 | g.52403753G>C | CA433886350 | BAP1 | c.1392C>G (p.Ser464=) c.1338C>G (p.Ser446=) c.119+48C>G n.820C>G | |
3 | g.52403753G>T | CA433886351 | BAP1 | c.1392C>A (p.Ser464=) c.1338C>A (p.Ser446=) c.119+48C>A n.820C>A | |
3 | g.52403754del | CA645529915 | BAP1 | c.1392del (p.Ile465SerfsTer?) c.1338del (p.Ile447SerfsTer?) c.119+48del n.820del | COSMIC |
3 | g.52403754G>A | CA353101638 | BAP1 | c.1391C>T (p.Ser464Phe) c.1337C>T (p.Ser446Phe) c.119+47C>T n.819C>T | |
3 | g.52403754G>C | CA353101642 | BAP1 | c.1391C>G (p.Ser464Cys) c.1337C>G (p.Ser446Cys) c.119+47C>G n.819C>G | |
3 | g.52403754G>T | CA353101644 | BAP1 | c.1391C>A (p.Ser464Tyr) c.1337C>A (p.Ser446Tyr) c.119+47C>A n.819C>A | |
3 | g.52403755A>C | CA353101649 | BAP1 | c.1390T>G (p.Ser464Ala) c.1336T>G (p.Ser446Ala) c.119+46T>G n.818T>G | |
3 | g.52403755A>G | CA353101651 | BAP1 | c.1390T>C (p.Ser464Pro) c.1336T>C (p.Ser446Pro) c.119+46T>C n.818T>C | |
3 | g.52403755A>T | CA353101647 | BAP1 | c.1390T>A (p.Ser464Thr) c.1336T>A (p.Ser446Thr) c.119+46T>A n.818T>A | ClinVar |
3 | g.52403756C>A | CA433886353 | BAP1 | c.1389G>T (p.Leu463=) c.1335G>T (p.Leu445=) c.119+45G>T n.817G>T | ClinVar |
3 | g.52403756C= | CA1364837015 | BAP1 | c.1389G= (p.Leu463=) c.1335G= (p.Leu445=) c.119+45G= n.817G= | |
3 | g.52403756C>G | CA16617997 | BAP1 | c.1389G>C (p.Leu463=) c.1335G>C (p.Leu445=) c.119+45G>C n.817G>C | ClinVar dbSNP gnomAD v4 |
3 | g.52403756C>T | CA433886352 | BAP1 | c.1389G>A (p.Leu463=) c.1335G>A (p.Leu445=) c.119+45G>A n.817G>A | ClinVar dbSNP gnomAD v4 |
3 | g.52403757A>C | CA353101654 | BAP1 | c.1388T>G (p.Leu463Arg) c.1334T>G (p.Leu445Arg) c.119+44T>G n.816T>G | |
3 | g.52403757A>G | CA353101656 | BAP1 | c.1388T>C (p.Leu463Pro) c.1334T>C (p.Leu445Pro) c.119+44T>C n.816T>C | ClinVar |
3 | g.52403757A>T | CA353101658 | BAP1 | c.1388T>A (p.Leu463Gln) c.1334T>A (p.Leu445Gln) c.119+44T>A n.816T>A | |
3 | g.52403758G>A | CA2436813 | BAP1 | c.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 |
3 | g.52403758G>C | CA353101659 | BAP1 | c.1387C>G (p.Leu463Val) c.1333C>G (p.Leu445Val) c.119+43C>G n.815C>G | |
3 | g.52403758G= | CA1364837019 | BAP1 | c.1387C= (p.Leu463=) c.1333C= (p.Leu445=) c.119+43C= n.815C= | |
3 | g.52403758G>T | CA353101660 | BAP1 | c.1387C>A (p.Leu463Met) c.1333C>A (p.Leu445Met) c.119+43C>A n.815C>A | |
3 | g.52403759A>C | CA433886354 | BAP1 | c.1386T>G (p.Pro462=) c.1332T>G (p.Pro444=) c.119+42T>G n.814T>G | gnomAD v4 |
3 | g.52403759A>G | CA433886355 | BAP1 | c.1386T>C (p.Pro462=) c.1332T>C (p.Pro444=) c.119+42T>C n.814T>C | |
3 | g.52403759A>T | CA433886356 | BAP1 | c.1386T>A (p.Pro462=) c.1332T>A (p.Pro444=) c.119+42T>A n.814T>A | |
3 | g.52403760G>A | CA2436814 | BAP1 | c.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 |
3 | g.52403760G>C | CA353101668 | BAP1 | c.1385C>G (p.Pro462Arg) c.1331C>G (p.Pro444Arg) c.119+41C>G n.813C>G | gnomAD v4 |
3 | g.52403760G= | CA1364837023 | BAP1 | c.1385C= (p.Pro462=) c.1331C= (p.Pro444=) c.119+41C= n.813C= | |
3 | g.52403760G>T | CA353101663 | BAP1 | c.1385C>A (p.Pro462His) c.1331C>A (p.Pro444His) c.119+41C>A n.813C>A | |
3 | g.52403761G>A | CA353101669 | BAP1 | c.1384C>T (p.Pro462Ser) c.1330C>T (p.Pro444Ser) c.119+40C>T n.812C>T | ClinVar dbSNP gnomAD v4 |
3 | g.52403761G>C | CA353101671 | BAP1 | c.1384C>G (p.Pro462Ala) c.1330C>G (p.Pro444Ala) c.119+40C>G n.812C>G | |
3 | g.52403761G= | CA1364837028 | BAP1 | c.1384C= (p.Pro462=) c.1330C= (p.Pro444=) c.119+40C= n.812C= | |
3 | g.52403761G>T | CA353101672 | BAP1 | c.1384C>A (p.Pro462Thr) c.1330C>A (p.Pro444Thr) c.119+40C>A n.812C>A | ClinVar dbSNP gnomAD v4 |
3 | g.52403762A>C | CA353101676 | BAP1 | c.1383T>G (p.Ile461Met) c.1329T>G (p.Ile443Met) c.119+39T>G n.811T>G | |
3 | g.52403762A>G | CA433886357 | BAP1 | c.1383T>C (p.Ile461=) c.1329T>C (p.Ile443=) c.119+39T>C n.811T>C | |
3 | g.52403762A>T | CA433886358 | BAP1 | c.1383T>A (p.Ile461=) c.1329T>A (p.Ile443=) c.119+39T>A n.811T>A | |
3 | g.52403763dup | CA2499216939 | BAP1 | c.1383dup (p.Pro462SerfsTer7) c.1329dup (p.Pro444SerfsTer7) c.119+39dup n.811dup | ClinVar dbSNP |
3 | g.52403763A= | CA1364837031 | BAP1 | c.1382T= (p.Ile461=) c.1328T= (p.Ile443=) c.119+38T= n.810T= | |
3 | g.52403763A>C | CA353101681 | BAP1 | c.1382T>G (p.Ile461Ser) c.1328T>G (p.Ile443Ser) c.119+38T>G n.810T>G | |
3 | g.52403763A>G | CA353101680 | BAP1 | c.1382T>C (p.Ile461Thr) c.1328T>C (p.Ile443Thr) c.119+38T>C n.810T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403763A>T | CA353101679 | BAP1 | c.1382T>A (p.Ile461Asn) c.1328T>A (p.Ile443Asn) c.119+38T>A n.810T>A | |
3 | g.52403763delinsTT | CA2695197916 | BAP1 | c.1382delinsAA (p.Ile461LysfsTer8) c.1328delinsAA (p.Ile443LysfsTer8) c.119+38delinsAA n.810delinsAA | ClinVar |
3 | g.52403763_52403764delinsAT | CA1364837033 | BAP1 | c.1381_1382delinsAT (p.Ile461=) c.1327_1328delinsAT (p.Ile443=) c.119+37_119+38delinsAT n.809_810delinsAT | |
3 | g.52403764T>A | CA353101682 | BAP1 | c.1381A>T (p.Ile461Phe) c.1327A>T (p.Ile443Phe) c.119+37A>T n.809A>T | |
3 | g.52403764T>C | CA353101683 | BAP1 | c.1381A>G (p.Ile461Val) c.1327A>G (p.Ile443Val) c.119+37A>G n.809A>G | ClinVar dbSNP gnomAD v4 |
3 | g.52403764T>G | CA353101685 | BAP1 | c.1381A>C (p.Ile461Leu) c.1327A>C (p.Ile443Leu) c.119+37A>C n.809A>C | |
3 | g.52403764T= | CA1364837040 | BAP1 | c.1381A= (p.Ile461=) c.1327A= (p.Ile443=) c.119+37A= n.809A= | |
3 | g.52403765del | CA913188148 | BAP1 | c.1381del (p.Ile461PhefsTer?) c.1327del (p.Ile443PhefsTer?) c.119+37del n.809del | ClinVar dbSNP |
3 | g.52403765T>A | CA433886359 | BAP1 | c.1380A>T (p.Ser460=) c.1326A>T (p.Ser442=) c.119+36A>T n.808A>T | ClinVar dbSNP |
3 | g.52403765T>C | CA433886360 | BAP1 | c.1380A>G (p.Ser460=) c.1326A>G (p.Ser442=) c.119+36A>G n.808A>G | ClinVar dbSNP |
3 | g.52403765T>G | CA433886361 | BAP1 | c.1380A>C (p.Ser460=) c.1326A>C (p.Ser442=) c.119+36A>C n.808A>C | |
3 | g.52403766G>A | CA353101687 | BAP1 | c.1379C>T (p.Ser460Leu) c.1325C>T (p.Ser442Leu) c.119+35C>T n.807C>T | ClinVar dbSNP gnomAD v4 |
3 | g.52403766G>C | CA353101689 | BAP1 | c.1379C>G (p.Ser460Ter) c.1325C>G (p.Ser442Ter) c.119+35C>G n.807C>G | ClinVar dbSNP COSMIC |
3 | g.52403766G= | CA1364837047 | BAP1 | c.1379C= (p.Ser460=) c.1325C= (p.Ser442=) c.119+35C= n.807C= | |
3 | g.52403766G>T | CA353101690 | BAP1 | c.1379C>A (p.Ser460Ter) c.1325C>A (p.Ser442Ter) c.119+35C>A n.807C>A | ClinVar dbSNP |
3 | g.52403767A>C | CA353101694 | BAP1 | c.1378T>G (p.Ser460Ala) c.1324T>G (p.Ser442Ala) c.119+34T>G n.806T>G | |
3 | g.52403767A>G | CA353101696 | BAP1 | c.1378T>C (p.Ser460Pro) c.1324T>C (p.Ser442Pro) c.119+34T>C n.806T>C | |
3 | g.52403767A>T | CA353101698 | BAP1 | c.1378T>A (p.Ser460Thr) c.1324T>A (p.Ser442Thr) c.119+34T>A n.806T>A | gnomAD v4 |
3 | g.52403768G>A | CA433886364 | BAP1 | c.1377C>T (p.Leu459=) c.1323C>T (p.Leu441=) c.119+33C>T n.805C>T | ClinVar |
3 | g.52403768G>C | CA433886363 | BAP1 | c.1377C>G (p.Leu459=) c.1323C>G (p.Leu441=) c.119+33C>G n.805C>G | |
3 | g.52403768G>T | CA433886362 | BAP1 | c.1377C>A (p.Leu459=) c.1323C>A (p.Leu441=) c.119+33C>A n.805C>A | |
3 | g.52403769A>C | CA353101701 | BAP1 | c.1376T>G (p.Leu459Arg) c.1322T>G (p.Leu441Arg) c.119+32T>G n.804T>G | |
3 | g.52403769A>G | CA353101704 | BAP1 | c.1376T>C (p.Leu459Pro) c.1322T>C (p.Leu441Pro) c.119+32T>C n.804T>C | dbSNP gnomAD v4 |
3 | g.52403769A>T | CA353101706 | BAP1 | c.1376T>A (p.Leu459His) c.1322T>A (p.Leu441His) c.119+32T>A n.804T>A | |
3 | g.52403770G>A | CA353101713 | BAP1 | c.1375C>T (p.Leu459Phe) c.1321C>T (p.Leu441Phe) c.119+31C>T n.803C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403770G>C | CA353101714 | BAP1 | c.1375C>G (p.Leu459Val) c.1321C>G (p.Leu441Val) c.119+31C>G n.803C>G | |
3 | g.52403770G= | CA1364837057 | BAP1 | c.1375C= (p.Leu459=) c.1321C= (p.Leu441=) c.119+31C= n.803C= | |
3 | g.52403770G>T | CA353101711 | BAP1 | c.1375C>A (p.Leu459Ile) c.1321C>A (p.Leu441Ile) c.119+31C>A n.803C>A | |
3 | g.52403771del | CA2697556707 | BAP1 | c.1375del (p.Leu459SerfsTer?) c.1321del (p.Leu441SerfsTer?) c.119+31del n.803del | ClinVar |
3 | g.52403771G>A | CA433886365 | BAP1 | c.1374C>T (p.Asp458=) c.1320C>T (p.Asp440=) c.119+30C>T n.802C>T | |
3 | g.52403771G>C | CA353101717 | BAP1 | c.1374C>G (p.Asp458Glu) c.1320C>G (p.Asp440Glu) c.119+30C>G n.802C>G | |
3 | g.52403771G= | CA1364837061 | BAP1 | c.1374C= (p.Asp458=) c.1320C= (p.Asp440=) c.119+30C= n.802C= | |
3 | g.52403771G>T | CA353101719 | BAP1 | c.1374C>A (p.Asp458Glu) c.1320C>A (p.Asp440Glu) c.119+30C>A n.802C>A | ClinVar dbSNP |
3 | g.52403772T>A | CA353101721 | BAP1 | c.1373A>T (p.Asp458Val) c.1319A>T (p.Asp440Val) c.119+29A>T n.801A>T | |
3 | g.52403772T>C | CA353101724 | BAP1 | c.1373A>G (p.Asp458Gly) c.1319A>G (p.Asp440Gly) c.119+29A>G n.801A>G | dbSNP |
3 | g.52403772T>G | CA353101727 | BAP1 | c.1373A>C (p.Asp458Ala) c.1319A>C (p.Asp440Ala) c.119+29A>C n.801A>C | |
3 | g.52403772T= | CA1364837066 | BAP1 | c.1373A= (p.Asp458=) c.1319A= (p.Asp440=) c.119+29A= n.801A= | |
3 | g.52403773C>A | CA353101737 | BAP1 | c.1372G>T (p.Asp458Tyr) c.1318G>T (p.Asp440Tyr) c.119+28G>T n.800G>T | |
3 | g.52403773C>G | CA353101730 | BAP1 | c.1372G>C (p.Asp458His) c.1318G>C (p.Asp440His) c.119+28G>C n.800G>C | |
3 | g.52403773C>T | CA353101734 | BAP1 | c.1372G>A (p.Asp458Asn) c.1318G>A (p.Asp440Asn) c.119+28G>A n.800G>A | ClinVar gnomAD v4 |
3 | g.52403774C>A | CA353101742 | BAP1 | c.1371G>T (p.Lys457Asn) c.1317G>T (p.Lys439Asn) c.119+27G>T n.799G>T | ClinVar dbSNP |
3 | g.52403774C= | CA1364837073 | BAP1 | c.1371G= (p.Lys457=) c.1317G= (p.Lys439=) c.119+27G= n.799G= | |
3 | g.52403774C>G | CA353101743 | BAP1 | c.1371G>C (p.Lys457Asn) c.1317G>C (p.Lys439Asn) c.119+27G>C n.799G>C | |
3 | g.52403774C>T | CA433886366 | BAP1 | c.1371G>A (p.Lys457=) c.1317G>A (p.Lys439=) c.119+27G>A n.799G>A | ClinVar dbSNP |
3 | g.52403775T>A | CA353101749 | BAP1 | c.1370A>T (p.Lys457Met) c.1316A>T (p.Lys439Met) c.119+26A>T n.798A>T | |
3 | g.52403775T>C | CA353101752 | BAP1 | c.1370A>G (p.Lys457Arg) c.1316A>G (p.Lys439Arg) c.119+26A>G n.798A>G | ClinVar dbSNP gnomAD v4 |
3 | g.52403775T>G | CA353101755 | BAP1 | c.1370A>C (p.Lys457Thr) c.1316A>C (p.Lys439Thr) c.119+26A>C n.798A>C | |
3 | g.52403775T= | CA1364837078 | BAP1 | c.1370A= (p.Lys457=) c.1316A= (p.Lys439=) c.119+26A= n.798A= | |
3 | g.52403776T>A | CA353101766 | BAP1 | c.1369A>T (p.Lys457Ter) c.1315A>T (p.Lys439Ter) c.119+25A>T n.797A>T | |
3 | g.52403776T>C | CA353101762 | BAP1 | c.1369A>G (p.Lys457Glu) c.1315A>G (p.Lys439Glu) c.119+25A>G n.797A>G | |
3 | g.52403776T>G | CA353101758 | BAP1 | c.1369A>C (p.Lys457Gln) c.1315A>C (p.Lys439Gln) c.119+25A>C n.797A>C | |
3 | g.52403777C>A | CA353101768 | BAP1 | c.1368G>T (p.Gln456His) c.1314G>T (p.Gln438His) c.119+24G>T n.796G>T | |
3 | g.52403777C>G | CA353101770 | BAP1 | c.1368G>C (p.Gln456His) c.1314G>C (p.Gln438His) c.119+24G>C n.796G>C | |
3 | g.52403777C>T | CA433886367 | BAP1 | c.1368G>A (p.Gln456=) c.1314G>A (p.Gln438=) c.119+24G>A n.796G>A | |
3 | g.52403778T>A | CA353101777 | BAP1 | c.1367A>T (p.Gln456Leu) c.1313A>T (p.Gln438Leu) c.119+23A>T n.795A>T | |
3 | g.52403778T>C | CA353101778 | BAP1 | c.1367A>G (p.Gln456Arg) c.1313A>G (p.Gln438Arg) c.119+23A>G n.795A>G | |
3 | g.52403778T>G | CA353101782 | BAP1 | c.1367A>C (p.Gln456Pro) c.1313A>C (p.Gln438Pro) c.119+23A>C n.795A>C | |
3 | g.52403779G>A | CA353101786 | BAP1 | c.1366C>T (p.Gln456Ter) c.1312C>T (p.Gln438Ter) c.119+22C>T n.794C>T | |
3 | g.52403779G>C | CA353101790 | BAP1 | c.1366C>G (p.Gln456Glu) c.1312C>G (p.Gln438Glu) c.119+22C>G n.794C>G | ClinVar |
3 | g.52403779G>T | CA353101791 | BAP1 | c.1366C>A (p.Gln456Lys) c.1312C>A (p.Gln438Lys) c.119+22C>A n.794C>A | |
3 | g.52403780G>A | CA433886368 | BAP1 | c.1365C>T (p.Ser455=) c.1311C>T (p.Ser437=) c.119+21C>T n.793C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403780G>C | CA433886369 | BAP1 | c.1365C>G (p.Ser455=) c.1311C>G (p.Ser437=) c.119+21C>G n.793C>G | |
3 | g.52403780G= | CA1364837080 | BAP1 | c.1365C= (p.Ser455=) c.1311C= (p.Ser437=) c.119+21C= n.793C= | |
3 | g.52403780G>T | CA433886370 | BAP1 | c.1365C>A (p.Ser455=) c.1311C>A (p.Ser437=) c.119+21C>A n.793C>A | ClinVar dbSNP |
3 | g.52403781G>A | CA353101792 | BAP1 | c.1364C>T (p.Ser455Phe) c.1310C>T (p.Ser437Phe) c.119+20C>T n.792C>T | |
3 | g.52403781G>C | CA353101794 | BAP1 | c.1364C>G (p.Ser455Cys) c.1310C>G (p.Ser437Cys) c.119+20C>G n.792C>G | |
3 | g.52403781G>T | CA353101797 | BAP1 | c.1364C>A (p.Ser455Tyr) c.1310C>A (p.Ser437Tyr) c.119+20C>A n.792C>A | |
3 | g.52403782A= | CA1364837085 | BAP1 | c.1363T= (p.Ser455=) c.1309T= (p.Ser437=) c.119+19T= n.791T= | |
3 | g.52403782A>C | CA353101800 | BAP1 | c.1363T>G (p.Ser455Ala) c.1309T>G (p.Ser437Ala) c.119+19T>G n.791T>G | gnomAD v4 |
3 | g.52403782A>G | CA353101802 | BAP1 | c.1363T>C (p.Ser455Pro) c.1309T>C (p.Ser437Pro) c.119+19T>C n.791T>C | ClinVar dbSNP gnomAD v4 |
3 | g.52403782A>T | CA353101805 | BAP1 | c.1363T>A (p.Ser455Thr) c.1309T>A (p.Ser437Thr) c.119+19T>A n.791T>A | |
3 | g.52403783C>A | CA353101820 | BAP1 | c.1362G>T (p.Glu454Asp) c.1308G>T (p.Glu436Asp) c.119+18G>T n.790G>T | |
3 | g.52403783C= | CA1364837092 | BAP1 | c.1362G= (p.Glu454=) c.1308G= (p.Glu436=) c.119+18G= n.790G= | |
3 | g.52403783C>G | CA353101817 | BAP1 | c.1362G>C (p.Glu454Asp) c.1308G>C (p.Glu436Asp) c.119+18G>C n.790G>C | dbSNP |
3 | g.52403783C>T | CA2436815 | BAP1 | c.1362G>A (p.Glu454=) c.1308G>A (p.Glu436=) c.119+18G>A n.790G>A | ClinVar dbSNP ExAC gnomAD v4 |
3 | g.52403784T>A | CA353101825 | BAP1 | c.1361A>T (p.Glu454Val) c.1307A>T (p.Glu436Val) c.119+17A>T n.789A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403784T>C | CA353101838 | BAP1 | c.1361A>G (p.Glu454Gly) c.1307A>G (p.Glu436Gly) c.119+17A>G n.789A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403784T>G | CA353101841 | BAP1 | c.1361A>C (p.Glu454Ala) c.1307A>C (p.Glu436Ala) c.119+17A>C n.789A>C | |
3 | g.52403784T= | CA1364837098 | BAP1 | c.1361A= (p.Glu454=) c.1307A= (p.Glu436=) c.119+17A= n.789A= | |
3 | g.52403785C>A | CA353101843 | BAP1 | c.1360G>T (p.Glu454Ter) c.1306G>T (p.Glu436Ter) c.119+16G>T n.788G>T | |
3 | g.52403785C>G | CA353101844 | BAP1 | c.1360G>C (p.Glu454Gln) c.1306G>C (p.Glu436Gln) c.119+16G>C n.788G>C | |
3 | g.52403785C>T | CA353101845 | BAP1 | c.1360G>A (p.Glu454Lys) c.1306G>A (p.Glu436Lys) c.119+16G>A n.788G>A | |
3 | g.52403785_52403787delinsCTT | CA1364837107 | BAP1 | c.1358_1360delinsAAG (p.Lys453=) c.1304_1306delinsAAG (p.Lys435=) c.119+14_119+16delinsAAG n.786_788delinsAAG | |
3 | g.52403786T>A | CA353101849 | BAP1 | c.1359A>T (p.Lys453Asn) c.1305A>T (p.Lys435Asn) c.119+15A>T n.787A>T | |
3 | g.52403786T>C | CA433886371 | BAP1 | c.1359A>G (p.Lys453=) c.1305A>G (p.Lys435=) c.119+15A>G n.787A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403786T>G | CA353101851 | BAP1 | c.1359A>C (p.Lys453Asn) c.1305A>C (p.Lys435Asn) c.119+15A>C n.787A>C | |
3 | g.52403786T= | CA1364837117 | BAP1 | c.1359A= (p.Lys453=) c.1305A= (p.Lys435=) c.119+15A= n.787A= | |
3 | g.52403786delinsCC | CA2579984146 | BAP1 | c.1359delinsGG (p.Glu454GlyfsTer15) c.1305delinsGG (p.Glu436GlyfsTer15) c.119+15delinsGG n.787delinsGG | |
3 | g.52403788dup | CA2579984147 | BAP1 | c.1359dup (p.Glu454ArgfsTer15) c.1305dup (p.Glu436ArgfsTer15) c.119+15dup n.787dup | ClinVar |
3 | g.52403787_52403788del | CA543056568 | BAP1 | c.1358_1359del (p.Lys453ArgfsTer15) c.1304_1305del (p.Lys435ArgfsTer15) c.119+14_119+15del n.786_787del | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.52403787T>A | CA353101857 | BAP1 | c.1358A>T (p.Lys453Ile) c.1304A>T (p.Lys435Ile) c.119+14A>T n.786A>T | |
3 | g.52403787T>C | CA2436816 | BAP1 | c.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 |
3 | g.52403787T>G | CA353101860 | BAP1 | c.1358A>C (p.Lys453Thr) c.1304A>C (p.Lys435Thr) c.119+14A>C n.786A>C | ClinVar dbSNP |
3 | g.52403787T= | CA1364837122 | BAP1 | c.1358A= (p.Lys453=) c.1304A= (p.Lys435=) c.119+14A= n.786A= | |
3 | g.52403788T>A | CA353101861 | BAP1 | c.1357A>T (p.Lys453Ter) c.1303A>T (p.Lys435Ter) c.119+13A>T n.785A>T | COSMIC |
3 | g.52403788T>C | CA353101862 | BAP1 | c.1357A>G (p.Lys453Glu) c.1303A>G (p.Lys435Glu) c.119+13A>G n.785A>G | ClinVar dbSNP COSMIC |
3 | g.52403788T>G | CA353101865 | BAP1 | c.1357A>C (p.Lys453Gln) c.1303A>C (p.Lys435Gln) c.119+13A>C n.785A>C | ClinVar |
3 | g.52403788T= | CA1364837128 | BAP1 | c.1357A= (p.Lys453=) c.1303A= (p.Lys435=) c.119+13A= n.785A= | |
3 | g.52403789G>A | CA433886372 | BAP1 | c.1356C>T (p.Leu452=) c.1302C>T (p.Leu434=) c.119+12C>T n.784C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403789G>C | CA433886373 | BAP1 | c.1356C>G (p.Leu452=) c.1302C>G (p.Leu434=) c.119+12C>G n.784C>G | |
3 | g.52403789G= | CA1364837130 | BAP1 | c.1356C= (p.Leu452=) c.1302C= (p.Leu434=) c.119+12C= n.784C= | |
3 | g.52403789G>T | CA433886374 | BAP1 | c.1356C>A (p.Leu452=) c.1302C>A (p.Leu434=) c.119+12C>A n.784C>A | |
3 | g.52403790A>C | CA353101870 | BAP1 | c.1355T>G (p.Leu452Arg) c.1301T>G (p.Leu434Arg) c.119+11T>G n.783T>G | |
3 | g.52403790A>G | CA353101871 | BAP1 | c.1355T>C (p.Leu452Pro) c.1301T>C (p.Leu434Pro) c.119+11T>C n.783T>C | |
3 | g.52403790A>T | CA353101868 | BAP1 | c.1355T>A (p.Leu452His) c.1301T>A (p.Leu434His) c.119+11T>A n.783T>A | dbSNP |
3 | g.52403791G>A | CA353101872 | BAP1 | c.1354C>T (p.Leu452Phe) c.1300C>T (p.Leu434Phe) c.119+10C>T n.782C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403791G>C | CA353101873 | BAP1 | c.1354C>G (p.Leu452Val) c.1300C>G (p.Leu434Val) c.119+10C>G n.782C>G | ClinVar dbSNP |
3 | g.52403791G= | CA1364837136 | BAP1 | c.1354C= (p.Leu452=) c.1300C= (p.Leu434=) c.119+10C= n.782C= | |
3 | g.52403791G>T | CA353101874 | BAP1 | c.1354C>A (p.Leu452Ile) c.1300C>A (p.Leu434Ile) c.119+10C>A n.782C>A | |
3 | g.52403792C>A | CA353101875 | BAP1 | c.1353G>T (p.Lys451Asn) c.1299G>T (p.Lys433Asn) c.119+9G>T n.781G>T | gnomAD v4 |
3 | g.52403792C= | CA1364837142 | BAP1 | c.1353G= (p.Lys451=) c.1299G= (p.Lys433=) c.119+9G= n.781G= | |
3 | g.52403792C>G | CA353101878 | BAP1 | c.1353G>C (p.Lys451Asn) c.1299G>C (p.Lys433Asn) c.119+9G>C n.781G>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403792C>T | CA433886375 | BAP1 | c.1353G>A (p.Lys451=) c.1299G>A (p.Lys433=) c.119+9G>A n.781G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403793T>A | CA353101883 | BAP1 | c.1352A>T (p.Lys451Met) c.1298A>T (p.Lys433Met) c.119+8A>T n.780A>T | |
3 | g.52403793T>C | CA353101886 | BAP1 | c.1352A>G (p.Lys451Arg) c.1298A>G (p.Lys433Arg) c.119+8A>G n.780A>G | dbSNP |
3 | g.52403793T>G | CA353101891 | BAP1 | c.1352A>C (p.Lys451Thr) c.1298A>C (p.Lys433Thr) c.119+8A>C n.780A>C | |
3 | g.52403793T= | CA1364837147 | BAP1 | c.1352A= (p.Lys451=) c.1298A= (p.Lys433=) c.119+8A= n.780A= | |
3 | g.52403794T>A | CA353101895 | BAP1 | c.1351A>T (p.Lys451Ter) c.1297A>T (p.Lys433Ter) c.119+7A>T n.779A>T | |
3 | g.52403794T>C | CA353101898 | BAP1 | c.1351A>G (p.Lys451Glu) c.1297A>G (p.Lys433Glu) c.119+7A>G n.779A>G | |
3 | g.52403794T>G | CA353101900 | BAP1 | c.1351A>C (p.Lys451Gln) c.1297A>C (p.Lys433Gln) c.119+7A>C n.779A>C | |
3 | g.52403795C>A | CA353101903 | BAP1 | c.1350G>T (p.Glu450Asp) c.1296G>T (p.Glu432Asp) c.119+6G>T n.778G>T | |
3 | g.52403795C>G | CA353101905 | BAP1 | c.1350G>C (p.Glu450Asp) c.1296G>C (p.Glu432Asp) c.119+6G>C n.778G>C | |
3 | g.52403795C>T | CA433886376 | BAP1 | c.1350G>A (p.Glu450=) c.1296G>A (p.Glu432=) c.119+6G>A n.778G>A | ClinVar dbSNP |
3 | g.52403796T>A | CA353101915 | BAP1 | c.1349A>T (p.Glu450Val) c.1295A>T (p.Glu432Val) c.119+5A>T n.777A>T | |
3 | g.52403796T>C | CA353101907 | BAP1 | c.1349A>G (p.Glu450Gly) c.1295A>G (p.Glu432Gly) c.119+5A>G n.777A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403796T>G | CA353101911 | BAP1 | c.1349A>C (p.Glu450Ala) c.1295A>C (p.Glu432Ala) c.119+5A>C n.777A>C | |
3 | g.52403796T= | CA1364837152 | BAP1 | c.1349A= (p.Glu450=) c.1295A= (p.Glu432=) c.119+5A= n.777A= | |
3 | g.52403797C>A | CA353101922 | BAP1 | c.1348G>T (p.Glu450Ter) c.1294G>T (p.Glu432Ter) c.119+4G>T n.776G>T | |
3 | g.52403797C>G | CA353101928 | BAP1 | c.1348G>C (p.Glu450Gln) c.1294G>C (p.Glu432Gln) c.119+4G>C n.776G>C | dbSNP |
3 | g.52403797C>T | CA353101931 | BAP1 | c.1348G>A (p.Glu450Lys) c.1294G>A (p.Glu432Lys) c.119+4G>A n.776G>A | dbSNP |
3 | g.52403798A>C | CA433886377 | BAP1 | c.1347T>G (p.Ala449=) c.1293T>G (p.Ala431=) c.119+3T>G n.775T>G | |
3 | g.52403798A>G | CA433886378 | BAP1 | c.1347T>C (p.Ala449=) c.1293T>C (p.Ala431=) c.119+3T>C n.775T>C | |
3 | g.52403798A>T | CA433886379 | BAP1 | c.1347T>A (p.Ala449=) c.1293T>A (p.Ala431=) c.119+3T>A n.775T>A | ClinVar |
3 | g.52403799G>A | CA353101933 | BAP1 | c.1346C>T (p.Ala449Val) c.1292C>T (p.Ala431Val) c.119+2C>T n.774C>T | |
3 | g.52403799G>C | CA353101934 | BAP1 | c.1346C>G (p.Ala449Gly) c.1292C>G (p.Ala431Gly) c.119+2C>G n.774C>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403799G= | CA1364837154 | BAP1 | c.1346C= (p.Ala449=) c.1292C= (p.Ala431=) c.119+2C= n.774C= | |
3 | g.52403799G>T | CA353101936 | BAP1 | c.1346C>A (p.Ala449Asp) c.1292C>A (p.Ala431Asp) c.119+2C>A n.774C>A | |
3 | g.52403800C>A | CA353101938 | BAP1 | c.1345G>T (p.Ala449Ser) c.1291G>T (p.Ala431Ser) c.119+1G>T n.773G>T | ClinVar dbSNP gnomAD v4 |
3 | g.52403800C= | CA1364837158 | BAP1 | c.1345G= (p.Ala449=) c.1291G= (p.Ala431=) c.119+1G= n.773G= | |
3 | g.52403800C>G | CA353101940 | BAP1 | c.1345G>C (p.Ala449Pro) c.1291G>C (p.Ala431Pro) c.119+1G>C n.773G>C | |
3 | g.52403800C>T | CA2436817 | BAP1 | c.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 |
3 | g.52403801C>A | CA353101942 | BAP1 | c.1344G>T (p.Leu448Phe) c.1290G>T (p.Leu430Phe) c.119G>T n.772G>T | |
3 | g.52403801C= | CA1364837163 | BAP1 | c.1344G= (p.Leu448=) c.1290G= (p.Leu430=) c.119G= n.772G= | |
3 | g.52403801C>G | CA353101945 | BAP1 | c.1344G>C (p.Leu448Phe) c.1290G>C (p.Leu430Phe) c.119G>C n.772G>C | |
3 | g.52403801C>T | CA2436818 | BAP1 | c.1344G>A (p.Leu448=) c.1290G>A (p.Leu430=) c.119G>A n.772G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403802A= | CA1364837171 | BAP1 | c.1343T= (p.Leu448=) c.1289T= (p.Leu430=) c.118T= n.771T= | |
3 | g.52403802A>C | CA353101948 | BAP1 | c.1343T>G (p.Leu448Trp) c.1289T>G (p.Leu430Trp) c.118T>G n.771T>G | dbSNP |
3 | g.52403802A>G | CA353101955 | BAP1 | c.1343T>C (p.Leu448Ser) c.1289T>C (p.Leu430Ser) c.118T>C n.771T>C | |
3 | g.52403802A>T | CA353101952 | BAP1 | c.1343T>A (p.Leu448Ter) c.1289T>A (p.Leu430Ter) c.118T>A n.771T>A | |
3 | g.52403803del | CA645529916 | BAP1 | c.1343del (p.Leu448TrpfsTer?) c.1289del (p.Leu430TrpfsTer?) c.118del n.771del | COSMIC |
3 | g.52403803A= | CA1364837174 | BAP1 | c.1342T= (p.Leu448=) c.1288T= (p.Leu430=) c.117T= n.770T= | |
3 | g.52403803A>C | CA353101963 | BAP1 | c.1342T>G (p.Leu448Val) c.1288T>G (p.Leu430Val) c.117T>G n.770T>G | |
3 | g.52403803A>G | CA74740895 | BAP1 | c.1342T>C (p.Leu448=) c.1288T>C (p.Leu430=) c.117T>C n.770T>C | ClinVar dbSNP |
3 | g.52403803A>T | CA353101980 | BAP1 | c.1342T>A (p.Leu448Met) c.1288T>A (p.Leu430Met) c.117T>A n.770T>A | |
3 | g.52403804G>A | CA433886380 | BAP1 | c.1341C>T (p.Val447=) c.1287C>T (p.Val429=) c.116C>T n.769C>T | |
3 | g.52403804G>C | CA433886381 | BAP1 | c.1341C>G (p.Val447=) c.1287C>G (p.Val429=) c.116C>G n.769C>G | dbSNP |
3 | g.52403804G= | CA1364837178 | BAP1 | c.1341C= (p.Val447=) c.1287C= (p.Val429=) c.116C= n.769C= | |
3 | g.52403804G>T | CA433886382 | BAP1 | c.1341C>A (p.Val447=) c.1287C>A (p.Val429=) c.116C>A n.769C>A | ClinVar dbSNP |
3 | g.52403805A= | CA1364837183 | BAP1 | c.1340T= (p.Val447=) c.1286T= (p.Val429=) c.115T= n.768T= | |
3 | g.52403805A>C | CA353101986 | BAP1 | c.1340T>G (p.Val447Gly) c.1286T>G (p.Val429Gly) c.115T>G n.768T>G | |
3 | g.52403805A>G | CA353101991 | BAP1 | c.1340T>C (p.Val447Ala) c.1286T>C (p.Val429Ala) c.115T>C n.768T>C | ClinVar dbSNP |
3 | g.52403805A>T | CA353101998 | BAP1 | c.1340T>A (p.Val447Asp) c.1286T>A (p.Val429Asp) c.115T>A n.768T>A | |
3 | g.52403805dup | CA2839319970 | BAP1 | c.1340dup (p.Ala449GlyfsTer2) c.1286dup (p.Ala431GlyfsTer2) c.115dup n.768dup | |
3 | g.52403806C>A | CA353102002 | BAP1 | c.1339G>T (p.Val447Phe) c.1285G>T (p.Val429Phe) c.114G>T n.767G>T | |
3 | g.52403806C= | CA1364837190 | BAP1 | c.1339G= (p.Val447=) c.1285G= (p.Val429=) c.114G= n.767G= | |
3 | g.52403806C>G | CA353102022 | BAP1 | c.1339G>C (p.Val447Leu) c.1285G>C (p.Val429Leu) c.114G>C n.767G>C | |
3 | g.52403806C>T | CA2436819 | BAP1 | c.1339G>A (p.Val447Ile) c.1285G>A (p.Val429Ile) c.114G>A n.767G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403807G>A | CA2436820 | BAP1 | c.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 |
3 | g.52403807G>C | CA353102029 | BAP1 | c.1338C>G (p.Asn446Lys) c.1284C>G (p.Asn428Lys) c.113C>G n.766C>G | |
3 | g.52403807G= | CA1364837198 | BAP1 | c.1338C= (p.Asn446=) c.1284C= (p.Asn428=) c.113C= n.766C= | |
3 | g.52403807G>T | CA353102030 | BAP1 | c.1338C>A (p.Asn446Lys) c.1284C>A (p.Asn428Lys) c.113C>A n.766C>A | gnomAD v4 |
3 | g.52403808T>A | CA2436822 | BAP1 | c.1337A>T (p.Asn446Ile) c.1283A>T (p.Asn428Ile) c.112A>T n.765A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52403808T>C | CA2436821 | BAP1 | c.1337A>G (p.Asn446Ser) c.1283A>G (p.Asn428Ser) c.112A>G n.765A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403808T>G | CA353102035 | BAP1 | c.1337A>C (p.Asn446Thr) c.1283A>C (p.Asn428Thr) c.112A>C n.765A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403808T= | CA1364837204 | BAP1 | c.1337A= (p.Asn446=) c.1283A= (p.Asn428=) c.112A= n.765A= | |
3 | g.52403809del | CA2586972746 | BAP1 | c.1337del (p.Asn446ThrfsTer?) c.1283del (p.Asn428ThrfsTer?) c.112del n.765del | |
3 | g.52403809T>A | CA353102044 | BAP1 | c.1336A>T (p.Asn446Tyr) c.1282A>T (p.Asn428Tyr) c.111A>T n.764A>T | |
3 | g.52403809T>C | CA353102039 | BAP1 | c.1336A>G (p.Asn446Asp) c.1282A>G (p.Asn428Asp) c.111A>G n.764A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403809T>G | CA353102042 | BAP1 | c.1336A>C (p.Asn446His) c.1282A>C (p.Asn428His) c.111A>C n.764A>C | |
3 | g.52403809T= | CA1364837217 | BAP1 | c.1336A= (p.Asn446=) c.1282A= (p.Asn428=) c.111A= n.764A= | |
3 | g.52403810G>A | CA433886383 | BAP1 | c.1335C>T (p.Ile445=) c.1281C>T (p.Ile427=) c.110C>T n.763C>T | |
3 | g.52403810G>C | CA353102054 | BAP1 | c.1335C>G (p.Ile445Met) c.1281C>G (p.Ile427Met) c.110C>G n.763C>G | |
3 | g.52403810G= | CA1364837220 | BAP1 | c.1335C= (p.Ile445=) c.1281C= (p.Ile427=) c.110C= n.763C= | |
3 | g.52403810G>T | CA433886384 | BAP1 | c.1335C>A (p.Ile445=) c.1281C>A (p.Ile427=) c.110C>A n.763C>A | ClinVar dbSNP |
3 | g.52403811A= | CA1364837225 | BAP1 | c.1334T= (p.Ile445=) c.1280T= (p.Ile427=) c.109T= n.762T= | |
3 | g.52403811A>C | CA353102055 | BAP1 | c.1334T>G (p.Ile445Ser) c.1280T>G (p.Ile427Ser) c.109T>G n.762T>G | |
3 | g.52403811A>G | CA2436823 | BAP1 | c.1334T>C (p.Ile445Thr) c.1280T>C (p.Ile427Thr) c.109T>C n.762T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403811A>T | CA353102056 | BAP1 | c.1334T>A (p.Ile445Asn) c.1280T>A (p.Ile427Asn) c.109T>A n.762T>A | dbSNP |
3 | g.52403812T>A | CA353102059 | BAP1 | c.1333A>T (p.Ile445Phe) c.1279A>T (p.Ile427Phe) c.108A>T n.761A>T | |
3 | g.52403812T>C | CA353102065 | BAP1 | c.1333A>G (p.Ile445Val) c.1279A>G (p.Ile427Val) c.108A>G n.761A>G | ClinVar gnomAD v4 |
3 | g.52403812T>G | CA353102066 | BAP1 | c.1333A>C (p.Ile445Leu) c.1279A>C (p.Ile427Leu) c.108A>C n.761A>C | |
3 | g.52403813G>A | CA433886385 | BAP1 | c.1332C>T (p.Thr444=) c.1278C>T (p.Thr426=) c.107C>T n.760C>T | ClinVar dbSNP |
3 | g.52403813G>C | CA433886386 | BAP1 | c.1332C>G (p.Thr444=) c.1278C>G (p.Thr426=) c.107C>G n.760C>G | |
3 | g.52403813G= | CA1364837231 | BAP1 | c.1332C= (p.Thr444=) c.1278C= (p.Thr426=) c.107C= n.760C= | |
3 | g.52403813G>T | CA433886387 | BAP1 | c.1332C>A (p.Thr444=) c.1278C>A (p.Thr426=) c.107C>A n.760C>A | |
3 | g.52403814G>A | CA353102070 | BAP1 | c.1331C>T (p.Thr444Ile) c.1277C>T (p.Thr426Ile) c.106C>T n.759C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403814G>C | CA353102076 | BAP1 | c.1331C>G (p.Thr444Ser) c.1277C>G (p.Thr426Ser) c.106C>G n.759C>G | |
3 | g.52403814G= | CA1364837237 | BAP1 | c.1331C= (p.Thr444=) c.1277C= (p.Thr426=) c.106C= n.759C= | |
3 | g.52403814G>T | CA353102080 | BAP1 | c.1331C>A (p.Thr444Asn) c.1277C>A (p.Thr426Asn) c.106C>A n.759C>A | |
3 | g.52403815T>A | CA353102083 | BAP1 | c.1330A>T (p.Thr444Ser) c.1276A>T (p.Thr426Ser) c.105A>T n.758A>T | |
3 | g.52403815T>C | CA2436824 | BAP1 | c.1330A>G (p.Thr444Ala) c.1276A>G (p.Thr426Ala) c.105A>G n.758A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403815T>G | CA353102082 | BAP1 | c.1330A>C (p.Thr444Pro) c.1276A>C (p.Thr426Pro) c.105A>C n.758A>C | ClinVar |
3 | g.52403815T= | CA1364837244 | BAP1 | c.1330A= (p.Thr444=) c.1276A= (p.Thr426=) c.105A= n.758A= | |
3 | g.52403816del | CA2838322567 | BAP1 | c.1329del (p.Asn443LysfsTer?) c.1275del (p.Asn425LysfsTer?) c.104del n.757del | |
3 | g.52403816G>A | CA433886388 | BAP1 | c.1329C>T (p.Asn443=) c.1275C>T (p.Asn425=) c.104C>T n.757C>T | ClinVar dbSNP |
3 | g.52403816G>C | CA353102084 | BAP1 | c.1329C>G (p.Asn443Lys) c.1275C>G (p.Asn425Lys) c.104C>G n.757C>G | gnomAD v4 |
3 | g.52403816G= | CA1364837251 | BAP1 | c.1329C= (p.Asn443=) c.1275C= (p.Asn425=) c.104C= n.757C= | |
3 | g.52403816G>T | CA353102085 | BAP1 | c.1329C>A (p.Asn443Lys) c.1275C>A (p.Asn425Lys) c.104C>A n.757C>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403817T>A | CA2436825 | BAP1 | c.1328A>T (p.Asn443Ile) c.1274A>T (p.Asn425Ile) c.103A>T n.756A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52403817T>C | CA2436826 | BAP1 | c.1328A>G (p.Asn443Ser) c.1274A>G (p.Asn425Ser) c.103A>G n.756A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52403817T>G | CA353102089 | BAP1 | c.1328A>C (p.Asn443Thr) c.1274A>C (p.Asn425Thr) c.103A>C n.756A>C | |
3 | g.52403817T= | CA1364837256 | BAP1 | c.1328A= (p.Asn443=) c.1274A= (p.Asn425=) c.103A= n.756A= | |
3 | g.52403818T>A | CA353102091 | BAP1 | c.1327A>T (p.Asn443Tyr) c.1273A>T (p.Asn425Tyr) c.102A>T n.755A>T | ClinVar |
3 | g.52403818T>C | CA353102093 | BAP1 | c.1327A>G (p.Asn443Asp) c.1273A>G (p.Asn425Asp) c.102A>G n.755A>G | ClinVar |
3 | g.52403818T>G | CA353102096 | BAP1 | c.1327A>C (p.Asn443His) c.1273A>C (p.Asn425His) c.102A>C n.755A>C | |
3 | g.52403819G>A | CA433886389 | BAP1 | c.1326C>T (p.Pro442=) c.1272C>T (p.Pro424=) c.101C>T n.754C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52403819G>C | CA433886390 | BAP1 | c.1326C>G (p.Pro442=) c.1272C>G (p.Pro424=) c.101C>G n.754C>G | |
3 | g.52403819G= | CA1364837260 | BAP1 | c.1326C= (p.Pro442=) c.1272C= (p.Pro424=) c.101C= n.754C= | |
3 | g.52403819G>T | CA433886391 | BAP1 | c.1326C>A (p.Pro442=) c.1272C>A (p.Pro424=) c.101C>A n.754C>A | |
3 | g.52403820G>A | CA353102098 | BAP1 | c.1325C>T (p.Pro442Leu) c.1271C>T (p.Pro424Leu) c.100C>T n.753C>T | ClinVar |
3 | g.52403820G>C | CA157247 | BAP1 | c.1325C>G (p.Pro442Arg) c.1271C>G (p.Pro424Arg) c.100C>G n.753C>G | ClinVar dbSNP |
3 | g.52403820G= | CA1364837265 | BAP1 | c.1325C= (p.Pro442=) c.1271C= (p.Pro424=) c.100C= n.753C= | |
3 | g.52403820G>T | CA353102100 | BAP1 | c.1325C>A (p.Pro442His) c.1271C>A (p.Pro424His) c.100C>A n.753C>A | |
3 | g.52403820_52403823delinsGGCT | CA1364837267 | BAP1 | c.1322_1325delinsAGCC (p.Gln441=) c.1268_1271delinsAGCC (p.Gln423=) c.97_100delinsAGCC n.750_753delinsAGCC | |
3 | g.52403821G>A | CA353102105 | BAP1 | c.1324C>T (p.Pro442Ser) c.1270C>T (p.Pro424Ser) c.99C>T n.752C>T | |
3 | g.52403821G>C | CA353102104 | BAP1 | c.1324C>G (p.Pro442Ala) c.1270C>G (p.Pro424Ala) c.99C>G n.752C>G | |
3 | g.52403821G>T | CA353102103 | BAP1 | c.1324C>A (p.Pro442Thr) c.1270C>A (p.Pro424Thr) c.99C>A n.752C>A | |
3 | g.52403823_52403825del | CA2436827 | BAP1 | c.1322_1324del (p.Gln441del) c.1268_1270del (p.Gln423del) c.97_99del n.750_752del | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52403822C>A | CA353102106 | BAP1 | c.1323G>T (p.Gln441His) c.1269G>T (p.Gln423His) c.98G>T n.751G>T | |
3 | g.52403822C= | CA1364837279 | BAP1 | c.1323G= (p.Gln441=) c.1269G= (p.Gln423=) c.98G= n.751G= | |
3 | g.52403822C>G | CA353102109 | BAP1 | c.1323G>C (p.Gln441His) c.1269G>C (p.Gln423His) c.98G>C n.751G>C | dbSNP |
3 | g.52403822C>T | CA2436828 | BAP1 | c.1323G>A (p.Gln441=) c.1269G>A (p.Gln423=) c.98G>A n.751G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403823T>A | CA353102125 | BAP1 | c.1322A>T (p.Gln441Leu) c.1268A>T (p.Gln423Leu) c.97A>T n.750A>T | |
3 | g.52403823T>C | CA2436829 | BAP1 | c.1322A>G (p.Gln441Arg) c.1268A>G (p.Gln423Arg) c.97A>G n.750A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52403823T>G | CA353102130 | BAP1 | c.1322A>C (p.Gln441Pro) c.1268A>C (p.Gln423Pro) c.97A>C n.750A>C | |
3 | g.52403823T= | CA1364837281 | BAP1 | c.1322A= (p.Gln441=) c.1268A= (p.Gln423=) c.97A= n.750A= | |
3 | g.52403824G>A | CA353102138 | BAP1 | c.1321C>T (p.Gln441Ter) c.1267C>T (p.Gln423Ter) c.96C>T n.749C>T | ClinVar dbSNP |
3 | g.52403824G>C | CA353102141 | BAP1 | c.1321C>G (p.Gln441Glu) c.1267C>G (p.Gln423Glu) c.96C>G n.749C>G | dbSNP |
3 | g.52403824G= | CA1364837286 | BAP1 | c.1321C= (p.Gln441=) c.1267C= (p.Gln423=) c.96C= n.749C= | |
3 | g.52403824G>T | CA353102142 | BAP1 | c.1321C>A (p.Gln441Lys) c.1267C>A (p.Gln423Lys) c.96C>A n.749C>A | |
3 | g.52403825C>A | CA433886392 | BAP1 | c.1320G>T (p.Leu440=) c.1266G>T (p.Leu422=) c.95G>T n.748G>T | |
3 | g.52403825C= | CA1364837290 | BAP1 | c.1320G= (p.Leu440=) c.1266G= (p.Leu422=) c.95G= n.748G= | |
3 | g.52403825C>G | CA433886393 | BAP1 | c.1320G>C (p.Leu440=) c.1266G>C (p.Leu422=) c.95G>C n.748G>C | |
3 | g.52403825C>T | CA2436830 | BAP1 | c.1320G>A (p.Leu440=) c.1266G>A (p.Leu422=) c.95G>A n.748G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403826A= | CA1364837292 | BAP1 | c.1319T= (p.Leu440=) c.1265T= (p.Leu422=) c.94T= n.747T= | |
3 | g.52403826A>C | CA353102147 | BAP1 | c.1319T>G (p.Leu440Arg) c.1265T>G (p.Leu422Arg) c.94T>G n.747T>G | |
3 | g.52403826A>G | CA353102150 | BAP1 | c.1319T>C (p.Leu440Pro) c.1265T>C (p.Leu422Pro) c.94T>C n.747T>C | ClinVar dbSNP |
3 | g.52403826A>T | CA353102152 | BAP1 | c.1319T>A (p.Leu440Gln) c.1265T>A (p.Leu422Gln) c.94T>A n.747T>A | |
3 | g.52403826_52403827insT | CA2586972748 | BAP1 | c.1318_1319insA (p.Leu440HisfsTer11) c.1264_1265insA (p.Leu422HisfsTer11) c.93_94insA n.746_747insA | |
3 | g.52403827G>A | CA433886394 | BAP1 | c.1318C>T (p.Leu440=) c.1264C>T (p.Leu422=) c.93C>T n.746C>T | ClinVar dbSNP |
3 | g.52403827G>C | CA353102163 | BAP1 | c.1318C>G (p.Leu440Val) c.1264C>G (p.Leu422Val) c.93C>G n.746C>G | ClinVar |
3 | g.52403827G>T | CA353102154 | BAP1 | c.1318C>A (p.Leu440Met) c.1264C>A (p.Leu422Met) c.93C>A n.746C>A | |
3 | g.52403828C>A | CA433886395 | BAP1 | c.1317G>T (p.Val439=) c.1263G>T (p.Val421=) c.92G>T n.745G>T | ClinVar |
3 | g.52403828C>G | CA433886396 | BAP1 | c.1317G>C (p.Val439=) c.1263G>C (p.Val421=) c.92G>C n.745G>C | ClinVar |
3 | g.52403828C>T | CA433886397 | BAP1 | c.1317G>A (p.Val439=) c.1263G>A (p.Val421=) c.92G>A n.745G>A | ClinVar dbSNP |
3 | g.52403829A>C | CA353102165 | BAP1 | c.1316T>G (p.Val439Gly) c.1262T>G (p.Val421Gly) c.91T>G n.744T>G | |
3 | g.52403829A>G | CA353102168 | BAP1 | c.1316T>C (p.Val439Ala) c.1262T>C (p.Val421Ala) c.91T>C n.744T>C | |
3 | g.52403829A>T | CA353102166 | BAP1 | c.1316T>A (p.Val439Glu) c.1262T>A (p.Val421Glu) c.91T>A n.744T>A | gnomAD v4 |
3 | g.52403829_52403831del | CA2666001846 | BAP1 | c.1314_1316del (p.Val439del) c.1260_1262del (p.Val421del) c.89_91del n.742_744del | gnomAD v4 |
3 | g.52403830C>A | CA353102170 | BAP1 | c.1315G>T (p.Val439Leu) c.1261G>T (p.Val421Leu) c.90G>T n.743G>T | ClinVar dbSNP COSMIC |
3 | g.52403830C= | CA1364837294 | BAP1 | c.1315G= (p.Val439=) c.1261G= (p.Val421=) c.90G= n.743G= | |
3 | g.52403830C>G | CA353102175 | BAP1 | c.1315G>C (p.Val439Leu) c.1261G>C (p.Val421Leu) c.90G>C n.743G>C | |
3 | g.52403830C>T | CA353102171 | BAP1 | c.1315G>A (p.Val439Met) c.1261G>A (p.Val421Met) c.90G>A n.743G>A | dbSNP |
3 | g.52403831T>A | CA433886398 | BAP1 | c.1314A>T (p.Ser438=) c.1260A>T (p.Ser420=) c.89A>T n.742A>T | ClinVar |
3 | g.52403831T>C | CA433886399 | BAP1 | c.1314A>G (p.Ser438=) c.1260A>G (p.Ser420=) c.89A>G n.742A>G | ClinVar |
3 | g.52403831T>G | CA433886400 | BAP1 | c.1314A>C (p.Ser438=) c.1260A>C (p.Ser420=) c.89A>C n.742A>C | ClinVar dbSNP |
3 | g.52403831T= | CA1364837298 | BAP1 | c.1314A= (p.Ser438=) c.1260A= (p.Ser420=) c.89A= n.742A= | |
3 | g.52403832G>A | CA353102176 | BAP1 | c.1313C>T (p.Ser438Leu) c.1259C>T (p.Ser420Leu) c.88C>T n.741C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52403832G>C | CA353102178 | BAP1 | c.1313C>G (p.Ser438Ter) c.1259C>G (p.Ser420Ter) c.88C>G n.741C>G | COSMIC |
3 | g.52403832G= | CA1364837302 | BAP1 | c.1313C= (p.Ser438=) c.1259C= (p.Ser420=) c.88C= n.741C= | |
3 | g.52403832G>T | CA353102179 | BAP1 | c.1313C>A (p.Ser438Ter) c.1259C>A (p.Ser420Ter) c.88C>A n.741C>A | ClinVar dbSNP |
3 | g.52403833A>C | CA353102181 | BAP1 | c.1312T>G (p.Ser438Ala) c.1258T>G (p.Ser420Ala) c.87T>G n.740T>G | |
3 | g.52403833A>G | CA353102186 | BAP1 | c.1312T>C (p.Ser438Pro) c.1258T>C (p.Ser420Pro) c.87T>C n.740T>C | gnomAD v4 |
3 | g.52403833A>T | CA353102189 | BAP1 | c.1312T>A (p.Ser438Thr) c.1258T>A (p.Ser420Thr) c.87T>A n.740T>A | dbSNP |
3 | g.52403834del | CA2573137327 | BAP1 | c.1311del (p.Ser438GlnfsTer?) c.1257del (p.Ser420GlnfsTer?) c.86del n.739del | ClinVar dbSNP |
3 | g.52403834C>A | CA433886401 | BAP1 | c.1311G>T (p.Leu437=) c.1257G>T (p.Leu419=) c.86G>T n.739G>T | ClinVar |
3 | g.52403834C>G | CA433886402 | BAP1 | c.1311G>C (p.Leu437=) c.1257G>C (p.Leu419=) c.86G>C n.739G>C | ClinVar dbSNP |
3 | g.52403834C>T | CA433886403 | BAP1 | c.1311G>A (p.Leu437=) c.1257G>A (p.Leu419=) c.86G>A n.739G>A | gnomAD v4 |
3 | g.52403835A= | CA1364837305 | BAP1 | c.1310T= (p.Leu437=) c.1256T= (p.Leu419=) c.85T= n.738T= | |
3 | g.52403835A>C | CA353102196 | BAP1 | c.1310T>G (p.Leu437Arg) c.1256T>G (p.Leu419Arg) c.85T>G n.738T>G | |
3 | g.52403835A>G | CA353102191 | BAP1 | c.1310T>C (p.Leu437Pro) c.1256T>C (p.Leu419Pro) c.85T>C n.738T>C | ClinVar dbSNP |
3 | g.52403835A>T | CA353102194 | BAP1 | c.1310T>A (p.Leu437Gln) c.1256T>A (p.Leu419Gln) c.85T>A n.738T>A | |
3 | g.52403836G>A | CA433886404 | BAP1 | c.1309C>T (p.Leu437=) c.1255C>T (p.Leu419=) c.84C>T n.737C>T | dbSNP gnomAD v4 |
3 | g.52403836G>C | CA353102197 | BAP1 | c.1309C>G (p.Leu437Val) c.1255C>G (p.Leu419Val) c.84C>G n.737C>G | |
3 | g.52403836G= | CA1364837309 | BAP1 | c.1309C= (p.Leu437=) c.1255C= (p.Leu419=) c.84C= n.737C= | |
3 | g.52403836G>T | CA353102198 | BAP1 | c.1309C>A (p.Leu437Met) c.1255C>A (p.Leu419Met) c.84C>A n.737C>A | ClinVar |
3 | g.52403836_52403842del | CA645529917 | BAP1 | c.1303_1309del (p.Gly435CysfsTer?) c.1249_1255del (p.Gly417CysfsTer?) c.78_84del n.731_737del | COSMIC |
3 | g.52403837T>A | CA353102200 | BAP1 | c.1308A>T (p.Gln436His) c.1254A>T (p.Gln418His) c.83A>T n.736A>T | ClinVar |
3 | g.52403837T>C | CA2436831 | BAP1 | c.1308A>G (p.Gln436=) c.1254A>G (p.Gln418=) c.83A>G n.736A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52403837T>G | CA353102203 | BAP1 | c.1308A>C (p.Gln436His) c.1254A>C (p.Gln418His) c.83A>C n.736A>C | ClinVar dbSNP |
3 | g.52403837T= | CA1364837313 | BAP1 | c.1308A= (p.Gln436=) c.1254A= (p.Gln418=) c.83A= n.736A= | |
3 | g.52403838T>A | CA353102217 | BAP1 | c.1307A>T (p.Gln436Leu) c.1253A>T (p.Gln418Leu) c.82A>T n.735A>T | |
3 | g.52403838T>C | CA353102207 | BAP1 | c.1307A>G (p.Gln436Arg) c.1253A>G (p.Gln418Arg) c.82A>G n.735A>G | ClinVar dbSNP |
3 | g.52403838T>G | CA353102209 | BAP1 | c.1307A>C (p.Gln436Pro) c.1253A>C (p.Gln418Pro) c.82A>C n.735A>C | |
3 | g.52403838T= | CA1364837316 | BAP1 | c.1307A= (p.Gln436=) c.1253A= (p.Gln418=) c.82A= n.735A= | |
3 | g.52403839G>A | CA353102218 | BAP1 | c.1306C>T (p.Gln436Ter) c.1252C>T (p.Gln418Ter) c.81C>T n.734C>T | COSMIC |
3 | g.52403839G>C | CA353102219 | BAP1 | c.1306C>G (p.Gln436Glu) c.1252C>G (p.Gln418Glu) c.81C>G n.734C>G | |
3 | g.52403839G>T | CA353102220 | BAP1 | c.1306C>A (p.Gln436Lys) c.1252C>A (p.Gln418Lys) c.81C>A n.734C>A | ClinVar dbSNP gnomAD v4 |
3 | g.52403839_52403840delinsGC | CA1364837318 | BAP1 | c.1305_1306delinsGC (p.Gly435=) c.1251_1252delinsGC (p.Gly417=) c.80_81delinsGC n.733_734delinsGC |