Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12810689G>ACA519890823USP9Yc.4110G>A (p.Lys1370=)
n.4122G>A
c.3876G>A (p.Lys1292=)
c.4125G>A (p.Lys1375=)
dbSNP gnomAD v2
Yg.12810689G>CCA414989259USP9Yc.4110G>C (p.Lys1370Asn)
n.4122G>C
c.3876G>C (p.Lys1292Asn)
c.4125G>C (p.Lys1375Asn)
Yg.12810689G=CA2470559196USP9Yc.4110G= (p.Lys1370=)
n.4122G=
c.3876G= (p.Lys1292=)
c.4125G= (p.Lys1375=)
Yg.12810689G>TCA414989262USP9Yc.4110G>T (p.Lys1370Asn)
n.4122G>T
c.3876G>T (p.Lys1292Asn)
c.4125G>T (p.Lys1375Asn)
Yg.12810690G>ACA414989265USP9Yc.4111G>A (p.Gly1371Ser)
n.4123G>A
c.3877G>A (p.Gly1293Ser)
c.4126G>A (p.Gly1376Ser)
Yg.12810690G>CCA414989283USP9Yc.4111G>C (p.Gly1371Arg)
n.4123G>C
c.3877G>C (p.Gly1293Arg)
c.4126G>C (p.Gly1376Arg)
Yg.12810690G>TCA414989269USP9Yc.4111G>T (p.Gly1371Cys)
n.4123G>T
c.3877G>T (p.Gly1293Cys)
c.4126G>T (p.Gly1376Cys)
Yg.12810691G>ACA414989284USP9Yc.4112G>A (p.Gly1371Asp)
n.4124G>A
c.3878G>A (p.Gly1293Asp)
c.4127G>A (p.Gly1376Asp)
Yg.12810691G>CCA414989285USP9Yc.4112G>C (p.Gly1371Ala)
n.4124G>C
c.3878G>C (p.Gly1293Ala)
c.4127G>C (p.Gly1376Ala)
Yg.12810691G>TCA414989286USP9Yc.4112G>T (p.Gly1371Val)
n.4124G>T
c.3878G>T (p.Gly1293Val)
c.4127G>T (p.Gly1376Val)
Yg.12810692T>ACA519890864USP9Yc.4113T>A (p.Gly1371=)
n.4125T>A
c.3879T>A (p.Gly1293=)
c.4128T>A (p.Gly1376=)
Yg.12810692T>CCA519890863USP9Yc.4113T>C (p.Gly1371=)
n.4125T>C
c.3879T>C (p.Gly1293=)
c.4128T>C (p.Gly1376=)
Yg.12810692T>GCA519890862USP9Yc.4113T>G (p.Gly1371=)
n.4125T>G
c.3879T>G (p.Gly1293=)
c.4128T>G (p.Gly1376=)
Yg.12810693A>CCA414989288USP9Yc.4114A>C (p.Lys1372Gln)
n.4126A>C
c.3880A>C (p.Lys1294Gln)
c.4129A>C (p.Lys1377Gln)
Yg.12810693A>GCA414989294USP9Yc.4114A>G (p.Lys1372Glu)
n.4126A>G
c.3880A>G (p.Lys1294Glu)
c.4129A>G (p.Lys1377Glu)
Yg.12810693A>TCA414989297USP9Yc.4114A>T (p.Lys1372Ter)
n.4126A>T
c.3880A>T (p.Lys1294Ter)
c.4129A>T (p.Lys1377Ter)
Yg.12810694A>CCA414989302USP9Yc.4115A>C (p.Lys1372Thr)
n.4127A>C
c.3881A>C (p.Lys1294Thr)
c.4130A>C (p.Lys1377Thr)
Yg.12810694A>GCA414989305USP9Yc.4115A>G (p.Lys1372Arg)
n.4127A>G
c.3881A>G (p.Lys1294Arg)
c.4130A>G (p.Lys1377Arg)
Yg.12810694A>TCA414989309USP9Yc.4115A>T (p.Lys1372Ile)
n.4127A>T
c.3881A>T (p.Lys1294Ile)
c.4130A>T (p.Lys1377Ile)
Yg.12810695A>CCA414989314USP9Yc.4116A>C (p.Lys1372Asn)
n.4128A>C
c.3882A>C (p.Lys1294Asn)
c.4131A>C (p.Lys1377Asn)
Yg.12810695A>GCA519890892USP9Yc.4116A>G (p.Lys1372=)
n.4128A>G
c.3882A>G (p.Lys1294=)
c.4131A>G (p.Lys1377=)
Yg.12810695A>TCA414989322USP9Yc.4116A>T (p.Lys1372Asn)
n.4128A>T
c.3882A>T (p.Lys1294Asn)
c.4131A>T (p.Lys1377Asn)
Yg.12810696T>ACA414989326USP9Yc.4117T>A (p.Tyr1373Asn)
n.4129T>A
c.3883T>A (p.Tyr1295Asn)
c.4132T>A (p.Tyr1378Asn)
Yg.12810696T>CCA414989328USP9Yc.4117T>C (p.Tyr1373His)
n.4129T>C
c.3883T>C (p.Tyr1295His)
c.4132T>C (p.Tyr1378His)
Yg.12810696T>GCA414989327USP9Yc.4117T>G (p.Tyr1373Asp)
n.4129T>G
c.3883T>G (p.Tyr1295Asp)
c.4132T>G (p.Tyr1378Asp)
Yg.12810697A>CCA414989330USP9Yc.4118A>C (p.Tyr1373Ser)
n.4130A>C
c.3884A>C (p.Tyr1295Ser)
c.4133A>C (p.Tyr1378Ser)
Yg.12810697A>GCA414989332USP9Yc.4118A>G (p.Tyr1373Cys)
n.4130A>G
c.3884A>G (p.Tyr1295Cys)
c.4133A>G (p.Tyr1378Cys)
Yg.12810697A>TCA414989334USP9Yc.4118A>T (p.Tyr1373Phe)
n.4130A>T
c.3884A>T (p.Tyr1295Phe)
c.4133A>T (p.Tyr1378Phe)
Yg.12810698T>ACA414989338USP9Yc.4119T>A (p.Tyr1373Ter)
n.4131T>A
c.3885T>A (p.Tyr1295Ter)
c.4134T>A (p.Tyr1378Ter)
Yg.12810698T>CCA519890922USP9Yc.4119T>C (p.Tyr1373=)
n.4131T>C
c.3885T>C (p.Tyr1295=)
c.4134T>C (p.Tyr1378=)
Yg.12810698T>GCA414989340USP9Yc.4119T>G (p.Tyr1373Ter)
n.4131T>G
c.3885T>G (p.Tyr1295Ter)
c.4134T>G (p.Tyr1378Ter)
Yg.12810699T>ACA414989344USP9Yc.4120T>A (p.Ser1374Thr)
n.4132T>A
c.3886T>A (p.Ser1296Thr)
c.4135T>A (p.Ser1379Thr)
Yg.12810699T>CCA414989345USP9Yc.4120T>C (p.Ser1374Pro)
n.4132T>C
c.3886T>C (p.Ser1296Pro)
c.4135T>C (p.Ser1379Pro)
Yg.12810699T>GCA414989346USP9Yc.4120T>G (p.Ser1374Ala)
n.4132T>G
c.3886T>G (p.Ser1296Ala)
c.4135T>G (p.Ser1379Ala)
Yg.12810700C>ACA414989347USP9Yc.4121C>A (p.Ser1374Ter)
n.4133C>A
c.3887C>A (p.Ser1296Ter)
c.4136C>A (p.Ser1379Ter)
Yg.12810700C>GCA414989349USP9Yc.4121C>G (p.Ser1374Ter)
n.4133C>G
c.3887C>G (p.Ser1296Ter)
c.4136C>G (p.Ser1379Ter)
Yg.12810700C>TCA414989354USP9Yc.4121C>T (p.Ser1374Leu)
n.4133C>T
c.3887C>T (p.Ser1296Leu)
c.4136C>T (p.Ser1379Leu)
Yg.12810701A>CCA519890965USP9Yc.4122A>C (p.Ser1374=)
n.4134A>C
c.3888A>C (p.Ser1296=)
c.4137A>C (p.Ser1379=)
Yg.12810701A>GCA519890966USP9Yc.4122A>G (p.Ser1374=)
n.4134A>G
c.3888A>G (p.Ser1296=)
c.4137A>G (p.Ser1379=)
Yg.12810701A>TCA519890967USP9Yc.4122A>T (p.Ser1374=)
n.4134A>T
c.3888A>T (p.Ser1296=)
c.4137A>T (p.Ser1379=)
Yg.12810702G>ACA414989372USP9Yc.4123G>A (p.Gly1375Ser)
n.4135G>A
c.3889G>A (p.Gly1297Ser)
c.4138G>A (p.Gly1380Ser)
Yg.12810702G>CCA414989363USP9Yc.4123G>C (p.Gly1375Arg)
n.4135G>C
c.3889G>C (p.Gly1297Arg)
c.4138G>C (p.Gly1380Arg)
Yg.12810702G>TCA414989368USP9Yc.4123G>T (p.Gly1375Cys)
n.4135G>T
c.3889G>T (p.Gly1297Cys)
c.4138G>T (p.Gly1380Cys)
Yg.12810703G>ACA414989375USP9Yc.4124G>A (p.Gly1375Asp)
n.4136G>A
c.3890G>A (p.Gly1297Asp)
c.4139G>A (p.Gly1380Asp)
Yg.12810703G>CCA414989379USP9Yc.4124G>C (p.Gly1375Ala)
n.4136G>C
c.3890G>C (p.Gly1297Ala)
c.4139G>C (p.Gly1380Ala)
Yg.12810703G>TCA414989388USP9Yc.4124G>T (p.Gly1375Val)
n.4136G>T
c.3890G>T (p.Gly1297Val)
c.4139G>T (p.Gly1380Val)
Yg.12810704T>ACA519890979USP9Yc.4125T>A (p.Gly1375=)
n.4137T>A
c.3891T>A (p.Gly1297=)
c.4140T>A (p.Gly1380=)
Yg.12810704T>CCA519890981USP9Yc.4125T>C (p.Gly1375=)
n.4137T>C
c.3891T>C (p.Gly1297=)
c.4140T>C (p.Gly1380=)
Yg.12810704T>GCA519890980USP9Yc.4125T>G (p.Gly1375=)
n.4137T>G
c.3891T>G (p.Gly1297=)
c.4140T>G (p.Gly1380=)
Yg.12810705G>ACA414989392USP9Yc.4126G>A (p.Asp1376Asn)
n.4138G>A
c.3892G>A (p.Asp1298Asn)
c.4141G>A (p.Asp1381Asn)
Yg.12810705G>CCA414989398USP9Yc.4126G>C (p.Asp1376His)
n.4138G>C
c.3892G>C (p.Asp1298His)
c.4141G>C (p.Asp1381His)
Yg.12810705G>TCA414989401USP9Yc.4126G>T (p.Asp1376Tyr)
n.4138G>T
c.3892G>T (p.Asp1298Tyr)
c.4141G>T (p.Asp1381Tyr)
Yg.12810706A>CCA414989404USP9Yc.4127A>C (p.Asp1376Ala)
n.4139A>C
c.3893A>C (p.Asp1298Ala)
c.4142A>C (p.Asp1381Ala)
Yg.12810706A>GCA414989410USP9Yc.4127A>G (p.Asp1376Gly)
n.4139A>G
c.3893A>G (p.Asp1298Gly)
c.4142A>G (p.Asp1381Gly)
Yg.12810706A>TCA414989420USP9Yc.4127A>T (p.Asp1376Val)
n.4139A>T
c.3893A>T (p.Asp1298Val)
c.4142A>T (p.Asp1381Val)
Yg.12810707T>ACA414989423USP9Yc.4128T>A (p.Asp1376Glu)
n.4140T>A
c.3894T>A (p.Asp1298Glu)
c.4143T>A (p.Asp1381Glu)
Yg.12810707T>CCA519891003USP9Yc.4128T>C (p.Asp1376=)
n.4140T>C
c.3894T>C (p.Asp1298=)
c.4143T>C (p.Asp1381=)
Yg.12810707T>GCA414989425USP9Yc.4128T>G (p.Asp1376Glu)
n.4140T>G
c.3894T>G (p.Asp1298Glu)
c.4143T>G (p.Asp1381Glu)
Yg.12810708T>ACA414989429USP9Yc.4129T>A (p.Tyr1377Asn)
n.4141T>A
c.3895T>A (p.Tyr1299Asn)
c.4144T>A (p.Tyr1382Asn)
Yg.12810708T>CCA414989430USP9Yc.4129T>C (p.Tyr1377His)
n.4141T>C
c.3895T>C (p.Tyr1299His)
c.4144T>C (p.Tyr1382His)
Yg.12810708T>GCA414989427USP9Yc.4129T>G (p.Tyr1377Asp)
n.4141T>G
c.3895T>G (p.Tyr1299Asp)
c.4144T>G (p.Tyr1382Asp)
Yg.12810709A>CCA414989435USP9Yc.4130A>C (p.Tyr1377Ser)
n.4142A>C
c.3896A>C (p.Tyr1299Ser)
c.4145A>C (p.Tyr1382Ser)
Yg.12810709A>GCA414989437USP9Yc.4130A>G (p.Tyr1377Cys)
n.4142A>G
c.3896A>G (p.Tyr1299Cys)
c.4145A>G (p.Tyr1382Cys)
Yg.12810709A>TCA414989438USP9Yc.4130A>T (p.Tyr1377Phe)
n.4142A>T
c.3896A>T (p.Tyr1299Phe)
c.4145A>T (p.Tyr1382Phe)
Yg.12810710T>ACA414989439USP9Yc.4131T>A (p.Tyr1377Ter)
n.4143T>A
c.3897T>A (p.Tyr1299Ter)
c.4146T>A (p.Tyr1382Ter)
Yg.12810710T>CCA519891017USP9Yc.4131T>C (p.Tyr1377=)
n.4143T>C
c.3897T>C (p.Tyr1299=)
c.4146T>C (p.Tyr1382=)
Yg.12810710T>GCA414989441USP9Yc.4131T>G (p.Tyr1377Ter)
n.4143T>G
c.3897T>G (p.Tyr1299Ter)
c.4146T>G (p.Tyr1382Ter)
Yg.12810711T>ACA414989451USP9Yc.4132T>A (p.Phe1378Ile)
n.4144T>A
c.3898T>A (p.Phe1300Ile)
c.4147T>A (p.Phe1383Ile)
Yg.12810711T>CCA414989444USP9Yc.4132T>C (p.Phe1378Leu)
n.4144T>C
c.3898T>C (p.Phe1300Leu)
c.4147T>C (p.Phe1383Leu)
Yg.12810711T>GCA414989448USP9Yc.4132T>G (p.Phe1378Val)
n.4144T>G
c.3898T>G (p.Phe1300Val)
c.4147T>G (p.Phe1383Val)
Yg.12810712T>ACA414989453USP9Yc.4133T>A (p.Phe1378Tyr)
n.4145T>A
c.3899T>A (p.Phe1300Tyr)
c.4148T>A (p.Phe1383Tyr)
Yg.12810712T>CCA414989457USP9Yc.4133T>C (p.Phe1378Ser)
n.4145T>C
c.3899T>C (p.Phe1300Ser)
c.4148T>C (p.Phe1383Ser)
Yg.12810712T>GCA414989468USP9Yc.4133T>G (p.Phe1378Cys)
n.4145T>G
c.3899T>G (p.Phe1300Cys)
c.4148T>G (p.Phe1383Cys)
Yg.12810713C>ACA414989472USP9Yc.4134C>A (p.Phe1378Leu)
n.4146C>A
c.3900C>A (p.Phe1300Leu)
c.4149C>A (p.Phe1383Leu)
Yg.12810713C>GCA414989475USP9Yc.4134C>G (p.Phe1378Leu)
n.4146C>G
c.3900C>G (p.Phe1300Leu)
c.4149C>G (p.Phe1383Leu)
Yg.12810713C>TCA519891043USP9Yc.4134C>T (p.Phe1378=)
n.4146C>T
c.3900C>T (p.Phe1300=)
c.4149C>T (p.Phe1383=)
Yg.12810714A>CCA414989482USP9Yc.4135A>C (p.Thr1379Pro)
n.4147A>C
c.3901A>C (p.Thr1301Pro)
c.4150A>C (p.Thr1384Pro)
Yg.12810714A>GCA414989486USP9Yc.4135A>G (p.Thr1379Ala)
n.4147A>G
c.3901A>G (p.Thr1301Ala)
c.4150A>G (p.Thr1384Ala)
Yg.12810714A>TCA414989484USP9Yc.4135A>T (p.Thr1379Ser)
n.4147A>T
c.3901A>T (p.Thr1301Ser)
c.4150A>T (p.Thr1384Ser)
Yg.12810715C>ACA414989497USP9Yc.4136C>A (p.Thr1379Lys)
n.4148C>A
c.3902C>A (p.Thr1301Lys)
c.4151C>A (p.Thr1384Lys)
Yg.12810715C>GCA414989515USP9Yc.4136C>G (p.Thr1379Arg)
n.4148C>G
c.3902C>G (p.Thr1301Arg)
c.4151C>G (p.Thr1384Arg)
Yg.12810715C>TCA414989518USP9Yc.4136C>T (p.Thr1379Ile)
n.4148C>T
c.3902C>T (p.Thr1301Ile)
c.4151C>T (p.Thr1384Ile)
Yg.12810716A>CCA519891065USP9Yc.4137A>C (p.Thr1379=)
n.4149A>C
c.3903A>C (p.Thr1301=)
c.4152A>C (p.Thr1384=)
Yg.12810716A>GCA519891068USP9Yc.4137A>G (p.Thr1379=)
n.4149A>G
c.3903A>G (p.Thr1301=)
c.4152A>G (p.Thr1384=)
Yg.12810716A>TCA519891073USP9Yc.4137A>T (p.Thr1379=)
n.4149A>T
c.3903A>T (p.Thr1301=)
c.4152A>T (p.Thr1384=)
Yg.12810717C>ACA414989528USP9Yc.4138C>A (p.Leu1380Ile)
n.4150C>A
c.3904C>A (p.Leu1302Ile)
c.4153C>A (p.Leu1385Ile)
Yg.12810717C>GCA414989530USP9Yc.4138C>G (p.Leu1380Val)
n.4150C>G
c.3904C>G (p.Leu1302Val)
c.4153C>G (p.Leu1385Val)
Yg.12810717C>TCA414989532USP9Yc.4138C>T (p.Leu1380Phe)
n.4150C>T
c.3904C>T (p.Leu1302Phe)
c.4153C>T (p.Leu1385Phe)
Yg.12810718T>ACA414989547USP9Yc.4139T>A (p.Leu1380His)
n.4151T>A
c.3905T>A (p.Leu1302His)
c.4154T>A (p.Leu1385His)
Yg.12810718T>CCA414989551USP9Yc.4139T>C (p.Leu1380Pro)
n.4151T>C
c.3905T>C (p.Leu1302Pro)
c.4154T>C (p.Leu1385Pro)
Yg.12810718T>GCA414989559USP9Yc.4139T>G (p.Leu1380Arg)
n.4151T>G
c.3905T>G (p.Leu1302Arg)
c.4154T>G (p.Leu1385Arg)
Yg.12810719T>ACA519891115USP9Yc.4140T>A (p.Leu1380=)
n.4152T>A
c.3906T>A (p.Leu1302=)
c.4155T>A (p.Leu1385=)
Yg.12810719T>CCA519891120USP9Yc.4140T>C (p.Leu1380=)
n.4152T>C
c.3906T>C (p.Leu1302=)
c.4155T>C (p.Leu1385=)
Yg.12810719T>GCA519891128USP9Yc.4140T>G (p.Leu1380=)
n.4152T>G
c.3906T>G (p.Leu1302=)
c.4155T>G (p.Leu1385=)
Yg.12810720T>ACA414989562USP9Yc.4141T>A (p.Leu1381Ile)
n.4153T>A
c.3907T>A (p.Leu1303Ile)
c.4156T>A (p.Leu1386Ile)
Yg.12810720T>CCA519891140USP9Yc.4141T>C (p.Leu1381=)
n.4153T>C
c.3907T>C (p.Leu1303=)
c.4156T>C (p.Leu1386=)
Yg.12810720T>GCA414989563USP9Yc.4141T>G (p.Leu1381Val)
n.4153T>G
c.3907T>G (p.Leu1303Val)
c.4156T>G (p.Leu1386Val)
Yg.12810721T>ACA414989566USP9Yc.4142T>A (p.Leu1381Ter)
n.4154T>A
c.3908T>A (p.Leu1303Ter)
c.4157T>A (p.Leu1386Ter)
Yg.12810721T>CCA414989564USP9Yc.4142T>C (p.Leu1381Ser)
n.4154T>C
c.3908T>C (p.Leu1303Ser)
c.4157T>C (p.Leu1386Ser)
Yg.12810721T>GCA414989565USP9Yc.4142T>G (p.Leu1381Ter)
n.4154T>G
c.3908T>G (p.Leu1303Ter)
c.4157T>G (p.Leu1386Ter)
Yg.12810722A>CCA414989568USP9Yc.4143A>C (p.Leu1381Phe)
n.4155A>C
c.3909A>C (p.Leu1303Phe)
c.4158A>C (p.Leu1386Phe)
Yg.12810722A>GCA519891146USP9Yc.4143A>G (p.Leu1381=)
n.4155A>G
c.3909A>G (p.Leu1303=)
c.4158A>G (p.Leu1386=)
Yg.12810722A>TCA414989574USP9Yc.4143A>T (p.Leu1381Phe)
n.4155A>T
c.3909A>T (p.Leu1303Phe)
c.4158A>T (p.Leu1386Phe)
Yg.12810723C>ACA519891152USP9Yc.4144C>A (p.Arg1382=)
n.4156C>A
c.3910C>A (p.Arg1304=)
c.4159C>A (p.Arg1387=)
Yg.12810723C=CA2470559197USP9Yc.4144C= (p.Arg1382=)
n.4156C=
c.3910C= (p.Arg1304=)
c.4159C= (p.Arg1387=)
Yg.12810723C>GCA414989578USP9Yc.4144C>G (p.Arg1382Gly)
n.4156C>G
c.3910C>G (p.Arg1304Gly)
c.4159C>G (p.Arg1387Gly)
Yg.12810723C>TCA414989581USP9Yc.4144C>T (p.Arg1382Trp)
n.4156C>T
c.3910C>T (p.Arg1304Trp)
c.4159C>T (p.Arg1387Trp)
dbSNP gnomAD v3 gnomAD v4
Yg.12810724G>ACA10573299USP9Yc.4145G>A (p.Arg1382Gln)
n.4157G>A
c.3911G>A (p.Arg1304Gln)
c.4160G>A (p.Arg1387Gln)
dbSNP ExAC gnomAD v2
Yg.12810724G>CCA414989593USP9Yc.4145G>C (p.Arg1382Pro)
n.4157G>C
c.3911G>C (p.Arg1304Pro)
c.4160G>C (p.Arg1387Pro)
Yg.12810724G=CA2470559198USP9Yc.4145G= (p.Arg1382=)
n.4157G=
c.3911G= (p.Arg1304=)
c.4160G= (p.Arg1387=)
Yg.12810724G>TCA414989595USP9Yc.4145G>T (p.Arg1382Leu)
n.4157G>T
c.3911G>T (p.Arg1304Leu)
c.4160G>T (p.Arg1387Leu)
Yg.12810725G>ACA519891170USP9Yc.4146G>A (p.Arg1382=)
n.4158G>A
c.3912G>A (p.Arg1304=)
c.4161G>A (p.Arg1387=)
Yg.12810725G>CCA519891179USP9Yc.4146G>C (p.Arg1382=)
n.4158G>C
c.3912G>C (p.Arg1304=)
c.4161G>C (p.Arg1387=)
Yg.12810725G>TCA519891190USP9Yc.4146G>T (p.Arg1382=)
n.4158G>T
c.3912G>T (p.Arg1304=)
c.4161G>T (p.Arg1387=)
Yg.12810726C>ACA414989598USP9Yc.4147C>A (p.His1383Asn)
n.4159C>A
c.3913C>A (p.His1305Asn)
c.4162C>A (p.His1388Asn)
Yg.12810726C>GCA414989602USP9Yc.4147C>G (p.His1383Asp)
n.4159C>G
c.3913C>G (p.His1305Asp)
c.4162C>G (p.His1388Asp)
Yg.12810726C>TCA414989604USP9Yc.4147C>T (p.His1383Tyr)
n.4159C>T
c.3913C>T (p.His1305Tyr)
c.4162C>T (p.His1388Tyr)
Yg.12810727A>CCA414989606USP9Yc.4148A>C (p.His1383Pro)
n.4160A>C
c.3914A>C (p.His1305Pro)
c.4163A>C (p.His1388Pro)
Yg.12810727A>GCA414989612USP9Yc.4148A>G (p.His1383Arg)
n.4160A>G
c.3914A>G (p.His1305Arg)
c.4163A>G (p.His1388Arg)
Yg.12810727A>TCA414989616USP9Yc.4148A>T (p.His1383Leu)
n.4160A>T
c.3914A>T (p.His1305Leu)
c.4163A>T (p.His1388Leu)
Yg.12810728C>ACA414989625USP9Yc.4149C>A (p.His1383Gln)
n.4161C>A
c.3915C>A (p.His1305Gln)
c.4164C>A (p.His1388Gln)
Yg.12810728C>GCA414989621USP9Yc.4149C>G (p.His1383Gln)
n.4161C>G
c.3915C>G (p.His1305Gln)
c.4164C>G (p.His1388Gln)
Yg.12810728C>TCA519891211USP9Yc.4149C>T (p.His1383=)
n.4161C>T
c.3915C>T (p.His1305=)
c.4164C>T (p.His1388=)
Yg.12810729C>ACA414989629USP9Yc.4150C>A (p.Leu1384Ile)
n.4162C>A
c.3916C>A (p.Leu1306Ile)
c.4165C>A (p.Leu1389Ile)
Yg.12810729C>GCA414989632USP9Yc.4150C>G (p.Leu1384Val)
n.4162C>G
c.3916C>G (p.Leu1306Val)
c.4165C>G (p.Leu1389Val)
Yg.12810729C>TCA414989641USP9Yc.4150C>T (p.Leu1384Phe)
n.4162C>T
c.3916C>T (p.Leu1306Phe)
c.4165C>T (p.Leu1389Phe)
Yg.12810730T>ACA414989643USP9Yc.4151T>A (p.Leu1384His)
n.4163T>A
c.3917T>A (p.Leu1306His)
c.4166T>A (p.Leu1389His)
Yg.12810730T>CCA414989647USP9Yc.4151T>C (p.Leu1384Pro)
n.4163T>C
c.3917T>C (p.Leu1306Pro)
c.4166T>C (p.Leu1389Pro)
Yg.12810730T>GCA414989649USP9Yc.4151T>G (p.Leu1384Arg)
n.4163T>G
c.3917T>G (p.Leu1306Arg)
c.4166T>G (p.Leu1389Arg)
Yg.12810731T>ACA519891229USP9Yc.4152T>A (p.Leu1384=)
n.4164T>A
c.3918T>A (p.Leu1306=)
c.4167T>A (p.Leu1389=)
Yg.12810731T>CCA519891240USP9Yc.4152T>C (p.Leu1384=)
n.4164T>C
c.3918T>C (p.Leu1306=)
c.4167T>C (p.Leu1389=)
Yg.12810731T>GCA519891242USP9Yc.4152T>G (p.Leu1384=)
n.4164T>G
c.3918T>G (p.Leu1306=)
c.4167T>G (p.Leu1389=)
Yg.12810732C>ACA414989656USP9Yc.4153C>A (p.Leu1385Ile)
n.4165C>A
c.3919C>A (p.Leu1307Ile)
c.4168C>A (p.Leu1390Ile)
Yg.12810732C>GCA414989666USP9Yc.4153C>G (p.Leu1385Val)
n.4165C>G
c.3919C>G (p.Leu1307Val)
c.4168C>G (p.Leu1390Val)
Yg.12810732C>TCA414989668USP9Yc.4153C>T (p.Leu1385Phe)
n.4165C>T
c.3919C>T (p.Leu1307Phe)
c.4168C>T (p.Leu1390Phe)
Yg.12810733T>ACA414989669USP9Yc.4154T>A (p.Leu1385His)
n.4166T>A
c.3920T>A (p.Leu1307His)
c.4169T>A (p.Leu1390His)
Yg.12810733T>CCA414989671USP9Yc.4154T>C (p.Leu1385Pro)
n.4166T>C
c.3920T>C (p.Leu1307Pro)
c.4169T>C (p.Leu1390Pro)
Yg.12810733T>GCA414989676USP9Yc.4154T>G (p.Leu1385Arg)
n.4166T>G
c.3920T>G (p.Leu1307Arg)
c.4169T>G (p.Leu1390Arg)
Yg.12810734C>ACA519891273USP9Yc.4155C>A (p.Leu1385=)
n.4167C>A
c.3921C>A (p.Leu1307=)
c.4170C>A (p.Leu1390=)
Yg.12810734C>GCA519891270USP9Yc.4155C>G (p.Leu1385=)
n.4167C>G
c.3921C>G (p.Leu1307=)
c.4170C>G (p.Leu1390=)
Yg.12810734C>TCA519891254USP9Yc.4155C>T (p.Leu1385=)
n.4167C>T
c.3921C>T (p.Leu1307=)
c.4170C>T (p.Leu1390=)
Yg.12810735A>CCA414989681USP9Yc.4156A>C (p.Asn1386His)
n.4168A>C
c.3922A>C (p.Asn1308His)
c.4171A>C (p.Asn1391His)
Yg.12810735A>GCA414989690USP9Yc.4156A>G (p.Asn1386Asp)
n.4168A>G
c.3922A>G (p.Asn1308Asp)
c.4171A>G (p.Asn1391Asp)
Yg.12810735A>TCA414989687USP9Yc.4156A>T (p.Asn1386Tyr)
n.4168A>T
c.3922A>T (p.Asn1308Tyr)
c.4171A>T (p.Asn1391Tyr)
Yg.12810736A=CA2470559199USP9Yc.4157A= (p.Asn1386=)
n.4169A=
c.3923A= (p.Asn1308=)
c.4172A= (p.Asn1391=)
Yg.12810736A>CCA10573301USP9Yc.4157A>C (p.Asn1386Thr)
n.4169A>C
c.3923A>C (p.Asn1308Thr)
c.4172A>C (p.Asn1391Thr)
dbSNP ExAC gnomAD v2
Yg.12810736A>GCA10573300USP9Yc.4157A>G (p.Asn1386Ser)
n.4169A>G
c.3923A>G (p.Asn1308Ser)
c.4172A>G (p.Asn1391Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12810736A>TCA414989708USP9Yc.4157A>T (p.Asn1386Ile)
n.4169A>T
c.3923A>T (p.Asn1308Ile)
c.4172A>T (p.Asn1391Ile)
Yg.12810737T>ACA414989711USP9Yc.4158T>A (p.Asn1386Lys)
n.4170T>A
c.3924T>A (p.Asn1308Lys)
c.4173T>A (p.Asn1391Lys)
Yg.12810737T>CCA519891337USP9Yc.4158T>C (p.Asn1386=)
n.4170T>C
c.3924T>C (p.Asn1308=)
c.4173T>C (p.Asn1391=)
Yg.12810737T>GCA414989717USP9Yc.4158T>G (p.Asn1386Lys)
n.4170T>G
c.3924T>G (p.Asn1308Lys)
c.4173T>G (p.Asn1391Lys)
Yg.12810738T>ACA414989722USP9Yc.4159T>A (p.Tyr1387Asn)
n.4171T>A
c.3925T>A (p.Tyr1309Asn)
c.4174T>A (p.Tyr1392Asn)
Yg.12810738T>CCA414989724USP9Yc.4159T>C (p.Tyr1387His)
n.4171T>C
c.3925T>C (p.Tyr1309His)
c.4174T>C (p.Tyr1392His)
Yg.12810738T>GCA414989726USP9Yc.4159T>G (p.Tyr1387Asp)
n.4171T>G
c.3925T>G (p.Tyr1309Asp)
c.4174T>G (p.Tyr1392Asp)
Yg.12810739A>CCA414989733USP9Yc.4160A>C (p.Tyr1387Ser)
n.4172A>C
c.3926A>C (p.Tyr1309Ser)
c.4175A>C (p.Tyr1392Ser)
Yg.12810739A>GCA414989736USP9Yc.4160A>G (p.Tyr1387Cys)
n.4172A>G
c.3926A>G (p.Tyr1309Cys)
c.4175A>G (p.Tyr1392Cys)
Yg.12810739A>TCA414989738USP9Yc.4160A>T (p.Tyr1387Phe)
n.4172A>T
c.3926A>T (p.Tyr1309Phe)
c.4175A>T (p.Tyr1392Phe)
Yg.12810740T>ACA414989741USP9Yc.4161T>A (p.Tyr1387Ter)
n.4173T>A
c.3927T>A (p.Tyr1309Ter)
c.4176T>A (p.Tyr1392Ter)
Yg.12810740T>CCA519891365USP9Yc.4161T>C (p.Tyr1387=)
n.4173T>C
c.3927T>C (p.Tyr1309=)
c.4176T>C (p.Tyr1392=)
Yg.12810740T>GCA414989743USP9Yc.4161T>G (p.Tyr1387Ter)
n.4173T>G
c.3927T>G (p.Tyr1309Ter)
c.4176T>G (p.Tyr1392Ter)
Yg.12810741G>ACA414989753USP9Yc.4162G>A (p.Ala1388Thr)
n.4174G>A
c.3928G>A (p.Ala1310Thr)
c.4177G>A (p.Ala1393Thr)
Yg.12810741G>CCA414989746USP9Yc.4162G>C (p.Ala1388Pro)
n.4174G>C
c.3928G>C (p.Ala1310Pro)
c.4177G>C (p.Ala1393Pro)
Yg.12810741G>TCA414989750USP9Yc.4162G>T (p.Ala1388Ser)
n.4174G>T
c.3928G>T (p.Ala1310Ser)
c.4177G>T (p.Ala1393Ser)
Yg.12810742C>ACA414989759USP9Yc.4163C>A (p.Ala1388Asp)
n.4175C>A
c.3929C>A (p.Ala1310Asp)
c.4178C>A (p.Ala1393Asp)
Yg.12810742C>GCA414989766USP9Yc.4163C>G (p.Ala1388Gly)
n.4175C>G
c.3929C>G (p.Ala1310Gly)
c.4178C>G (p.Ala1393Gly)
Yg.12810742C>TCA414989767USP9Yc.4163C>T (p.Ala1388Val)
n.4175C>T
c.3929C>T (p.Ala1310Val)
c.4178C>T (p.Ala1393Val)
Yg.12810743T>ACA519891418USP9Yc.4164T>A (p.Ala1388=)
n.4176T>A
c.3930T>A (p.Ala1310=)
c.4179T>A (p.Ala1393=)
Yg.12810743T>CCA519891419USP9Yc.4164T>C (p.Ala1388=)
n.4176T>C
c.3930T>C (p.Ala1310=)
c.4179T>C (p.Ala1393=)
Yg.12810743T>GCA519891422USP9Yc.4164T>G (p.Ala1388=)
n.4176T>G
c.3930T>G (p.Ala1310=)
c.4179T>G (p.Ala1393=)
Yg.12810744T>ACA414989768USP9Yc.4165T>A (p.Tyr1389Asn)
n.4177T>A
c.3931T>A (p.Tyr1311Asn)
c.4180T>A (p.Tyr1394Asn)
Yg.12810744T>CCA414989769USP9Yc.4165T>C (p.Tyr1389His)
n.4177T>C
c.3931T>C (p.Tyr1311His)
c.4180T>C (p.Tyr1394His)
Yg.12810744T>GCA414989771USP9Yc.4165T>G (p.Tyr1389Asp)
n.4177T>G
c.3931T>G (p.Tyr1311Asp)
c.4180T>G (p.Tyr1394Asp)
Yg.12810745A>CCA414989786USP9Yc.4166A>C (p.Tyr1389Ser)
n.4178A>C
c.3932A>C (p.Tyr1311Ser)
c.4181A>C (p.Tyr1394Ser)
Yg.12810745A>GCA414989788USP9Yc.4166A>G (p.Tyr1389Cys)
n.4178A>G
c.3932A>G (p.Tyr1311Cys)
c.4181A>G (p.Tyr1394Cys)
Yg.12810745A>TCA414989790USP9Yc.4166A>T (p.Tyr1389Phe)
n.4178A>T
c.3932A>T (p.Tyr1311Phe)
c.4181A>T (p.Tyr1394Phe)
Yg.12810746C>ACA414989791USP9Yc.4167C>A (p.Tyr1389Ter)
n.4179C>A
c.3933C>A (p.Tyr1311Ter)
c.4182C>A (p.Tyr1394Ter)
Yg.12810746C>GCA414989793USP9Yc.4167C>G (p.Tyr1389Ter)
n.4179C>G
c.3933C>G (p.Tyr1311Ter)
c.4182C>G (p.Tyr1394Ter)
Yg.12810746C>TCA519891444USP9Yc.4167C>T (p.Tyr1389=)
n.4179C>T
c.3933C>T (p.Tyr1311=)
c.4182C>T (p.Tyr1394=)
Yg.12810747A=CA2470559200USP9Yc.4168A= (p.Asn1390=)
n.4180A=
c.3934A= (p.Asn1312=)
c.4183A= (p.Asn1395=)
Yg.12810747A>CCA414989800USP9Yc.4168A>C (p.Asn1390His)
n.4180A>C
c.3934A>C (p.Asn1312His)
c.4183A>C (p.Asn1395His)
Yg.12810747A>GCA414989806USP9Yc.4168A>G (p.Asn1390Asp)
n.4180A>G
c.3934A>G (p.Asn1312Asp)
c.4183A>G (p.Asn1395Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.12810747A>TCA414989803USP9Yc.4168A>T (p.Asn1390Tyr)
n.4180A>T
c.3934A>T (p.Asn1312Tyr)
c.4183A>T (p.Asn1395Tyr)
Yg.12810748A>CCA414989815USP9Yc.4169A>C (p.Asn1390Thr)
n.4181A>C
c.3935A>C (p.Asn1312Thr)
c.4184A>C (p.Asn1395Thr)
Yg.12810748A>GCA414989817USP9Yc.4169A>G (p.Asn1390Ser)
n.4181A>G
c.3935A>G (p.Asn1312Ser)
c.4184A>G (p.Asn1395Ser)
COSMIC
Yg.12810748A>TCA414989824USP9Yc.4169A>T (p.Asn1390Ile)
n.4181A>T
c.3935A>T (p.Asn1312Ile)
c.4184A>T (p.Asn1395Ile)
Yg.12810749T>ACA414989828USP9Yc.4170T>A (p.Asn1390Lys)
n.4182T>A
c.3936T>A (p.Asn1312Lys)
c.4185T>A (p.Asn1395Lys)
Yg.12810749T>CCA519891476USP9Yc.4170T>C (p.Asn1390=)
n.4182T>C
c.3936T>C (p.Asn1312=)
c.4185T>C (p.Asn1395=)
Yg.12810749T>GCA414989830USP9Yc.4170T>G (p.Asn1390Lys)
n.4182T>G
c.3936T>G (p.Asn1312Lys)
c.4185T>G (p.Asn1395Lys)
Yg.12810750G>ACA414989831USP9Yc.4171G>A (p.Gly1391Ser)
n.4183G>A
c.3937G>A (p.Gly1313Ser)
c.4186G>A (p.Gly1396Ser)
COSMIC
Yg.12810750G>CCA414989832USP9Yc.4171G>C (p.Gly1391Arg)
n.4183G>C
c.3937G>C (p.Gly1313Arg)
c.4186G>C (p.Gly1396Arg)
Yg.12810750G>TCA414989834USP9Yc.4171G>T (p.Gly1391Cys)
n.4183G>T
c.3937G>T (p.Gly1313Cys)
c.4186G>T (p.Gly1396Cys)
Yg.12810751G>ACA414989837USP9Yc.4172G>A (p.Gly1391Asp)
n.4184G>A
c.3938G>A (p.Gly1313Asp)
c.4187G>A (p.Gly1396Asp)
dbSNP gnomAD v2
Yg.12810751G>CCA414989838USP9Yc.4172G>C (p.Gly1391Ala)
n.4184G>C
c.3938G>C (p.Gly1313Ala)
c.4187G>C (p.Gly1396Ala)
Yg.12810751G=CA2470559201USP9Yc.4172G= (p.Gly1391=)
n.4184G=
c.3938G= (p.Gly1313=)
c.4187G= (p.Gly1396=)
Yg.12810751G>TCA414989839USP9Yc.4172G>T (p.Gly1391Val)
n.4184G>T
c.3938G>T (p.Gly1313Val)
c.4187G>T (p.Gly1396Val)
Yg.12810752C>ACA519891496USP9Yc.4173C>A (p.Gly1391=)
n.4185C>A
c.3939C>A (p.Gly1313=)
c.4188C>A (p.Gly1396=)
Yg.12810752C>GCA519891503USP9Yc.4173C>G (p.Gly1391=)
n.4185C>G
c.3939C>G (p.Gly1313=)
c.4188C>G (p.Gly1396=)
Yg.12810752C>TCA519891500USP9Yc.4173C>T (p.Gly1391=)
n.4185C>T
c.3939C>T (p.Gly1313=)
c.4188C>T (p.Gly1396=)
Yg.12810753A>CCA414989846USP9Yc.4174A>C (p.Asn1392His)
n.4186A>C
c.3940A>C (p.Asn1314His)
c.4189A>C (p.Asn1397His)
Yg.12810753A>GCA414989841USP9Yc.4174A>G (p.Asn1392Asp)
n.4186A>G
c.3940A>G (p.Asn1314Asp)
c.4189A>G (p.Asn1397Asp)
Yg.12810753A>TCA414989845USP9Yc.4174A>T (p.Asn1392Tyr)
n.4186A>T
c.3940A>T (p.Asn1314Tyr)
c.4189A>T (p.Asn1397Tyr)
Yg.12810754A=CA2470559202USP9Yc.4175A= (p.Asn1392=)
n.4187A=
c.3941A= (p.Asn1314=)
c.4190A= (p.Asn1397=)
Yg.12810754A>CCA414989850USP9Yc.4175A>C (p.Asn1392Thr)
n.4187A>C
c.3941A>C (p.Asn1314Thr)
c.4190A>C (p.Asn1397Thr)
Yg.12810754A>GCA414989864USP9Yc.4175A>G (p.Asn1392Ser)
n.4187A>G
c.3941A>G (p.Asn1314Ser)
c.4190A>G (p.Asn1397Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.12810754A>TCA414989865USP9Yc.4175A>T (p.Asn1392Ile)
n.4187A>T
c.3941A>T (p.Asn1314Ile)
c.4190A>T (p.Asn1397Ile)
Yg.12810755T>ACA414989866USP9Yc.4176T>A (p.Asn1392Lys)
n.4188T>A
c.3942T>A (p.Asn1314Lys)
c.4191T>A (p.Asn1397Lys)
Yg.12810755T>CCA519891518USP9Yc.4176T>C (p.Asn1392=)
n.4188T>C
c.3942T>C (p.Asn1314=)
c.4191T>C (p.Asn1397=)
Yg.12810755T>GCA414989867USP9Yc.4176T>G (p.Asn1392Lys)
n.4188T>G
c.3942T>G (p.Asn1314Lys)
c.4191T>G (p.Asn1397Lys)
Yg.12810756A>CCA414989871USP9Yc.4177A>C (p.Ile1393Leu)
n.4189A>C
c.3943A>C (p.Ile1315Leu)
c.4192A>C (p.Ile1398Leu)
Yg.12810756A>GCA414989873USP9Yc.4177A>G (p.Ile1393Val)
n.4189A>G
c.3943A>G (p.Ile1315Val)
c.4192A>G (p.Ile1398Val)
Yg.12810756A>TCA414989877USP9Yc.4177A>T (p.Ile1393Phe)
n.4189A>T
c.3943A>T (p.Ile1315Phe)
c.4192A>T (p.Ile1398Phe)
Yg.12810757T>ACA414989883USP9Yc.4178T>A (p.Ile1393Asn)
n.4190T>A
c.3944T>A (p.Ile1315Asn)
c.4193T>A (p.Ile1398Asn)
Yg.12810757T>CCA414989903USP9Yc.4178T>C (p.Ile1393Thr)
n.4190T>C
c.3944T>C (p.Ile1315Thr)
c.4193T>C (p.Ile1398Thr)
Yg.12810757T>GCA414989907USP9Yc.4178T>G (p.Ile1393Ser)
n.4190T>G
c.3944T>G (p.Ile1315Ser)
c.4193T>G (p.Ile1398Ser)
Yg.12810758T>ACA519891545USP9Yc.4179T>A (p.Ile1393=)
n.4191T>A
c.3945T>A (p.Ile1315=)
c.4194T>A (p.Ile1398=)
Yg.12810758T>CCA519891546USP9Yc.4179T>C (p.Ile1393=)
n.4191T>C
c.3945T>C (p.Ile1315=)
c.4194T>C (p.Ile1398=)
Yg.12810758T>GCA414989911USP9Yc.4179T>G (p.Ile1393Met)
n.4191T>G
c.3945T>G (p.Ile1315Met)
c.4194T>G (p.Ile1398Met)
Yg.12810758_12810759insCCA2579747940USP9Yc.4179_4180insC (p.Asn1394GlnfsTer6)
n.4191_4192insC
c.3945_3946insC (p.Asn1316GlnfsTer6)
c.4194_4195insC (p.Asn1399GlnfsTer6)
Yg.12810759A>CCA414989915USP9Yc.4180A>C (p.Asn1394His)
n.4192A>C
c.3946A>C (p.Asn1316His)
c.4195A>C (p.Asn1399His)
Yg.12810759A>GCA414989913USP9Yc.4180A>G (p.Asn1394Asp)
n.4192A>G
c.3946A>G (p.Asn1316Asp)
c.4195A>G (p.Asn1399Asp)
Yg.12810759A>TCA414989918USP9Yc.4180A>T (p.Asn1394Tyr)
n.4192A>T
c.3946A>T (p.Asn1316Tyr)
c.4195A>T (p.Asn1399Tyr)
Yg.12810760A>CCA414989921USP9Yc.4181A>C (p.Asn1394Thr)
n.4193A>C
c.3947A>C (p.Asn1316Thr)
c.4196A>C (p.Asn1399Thr)
Yg.12810760A>GCA414989936USP9Yc.4181A>G (p.Asn1394Ser)
n.4193A>G
c.3947A>G (p.Asn1316Ser)
c.4196A>G (p.Asn1399Ser)
Yg.12810760A>TCA414989933USP9Yc.4181A>T (p.Asn1394Ile)
n.4193A>T
c.3947A>T (p.Asn1316Ile)
c.4196A>T (p.Asn1399Ile)
Yg.12810761C>ACA414989939USP9Yc.4182C>A (p.Asn1394Lys)
n.4194C>A
c.3948C>A (p.Asn1316Lys)
c.4197C>A (p.Asn1399Lys)
Yg.12810761C>GCA414989944USP9Yc.4182C>G (p.Asn1394Lys)
n.4194C>G
c.3948C>G (p.Asn1316Lys)
c.4197C>G (p.Asn1399Lys)
Yg.12810761C>TCA519891581USP9Yc.4182C>T (p.Asn1394=)
n.4194C>T
c.3948C>T (p.Asn1316=)
c.4197C>T (p.Asn1399=)
Yg.12810762A>CCA414989945USP9Yc.4183A>C (p.Ile1395Leu)
n.4195A>C
c.3949A>C (p.Ile1317Leu)
c.4198A>C (p.Ile1400Leu)
Yg.12810762A>GCA414989952USP9Yc.4183A>G (p.Ile1395Val)
n.4195A>G
c.3949A>G (p.Ile1317Val)
c.4198A>G (p.Ile1400Val)
Yg.12810762A>TCA414989950USP9Yc.4183A>T (p.Ile1395Leu)
n.4195A>T
c.3949A>T (p.Ile1317Leu)
c.4198A>T (p.Ile1400Leu)
Yg.12810763T>ACA414989955USP9Yc.4184T>A (p.Ile1395Lys)
n.4196T>A
c.3950T>A (p.Ile1317Lys)
c.4199T>A (p.Ile1400Lys)
Yg.12810763T>CCA414989958USP9Yc.4184T>C (p.Ile1395Thr)
n.4196T>C
c.3950T>C (p.Ile1317Thr)
c.4199T>C (p.Ile1400Thr)
Yg.12810763T>GCA414989959USP9Yc.4184T>G (p.Ile1395Arg)
n.4196T>G
c.3950T>G (p.Ile1317Arg)
c.4199T>G (p.Ile1400Arg)
Yg.12810764A>CCA519891589USP9Yc.4185A>C (p.Ile1395=)
n.4197A>C
c.3951A>C (p.Ile1317=)
c.4200A>C (p.Ile1400=)
Yg.12810764A>GCA414989960USP9Yc.4185A>G (p.Ile1395Met)
n.4197A>G
c.3951A>G (p.Ile1317Met)
c.4200A>G (p.Ile1400Met)
Yg.12810764A>TCA519891592USP9Yc.4185A>T (p.Ile1395=)
n.4197A>T
c.3951A>T (p.Ile1317=)
c.4200A>T (p.Ile1400=)
Yg.12810764_12810765delCA2579747941USP9Yc.4185_4186del (p.Pro1396GlnfsTer3)
n.4197_4198del
c.3951_3952del (p.Pro1318GlnfsTer3)
c.4200_4201del (p.Pro1401GlnfsTer3)
Yg.12810765C>ACA414989961USP9Yc.4186C>A (p.Pro1396Thr)
n.4198C>A
c.3952C>A (p.Pro1318Thr)
c.4201C>A (p.Pro1401Thr)
Yg.12810765C>GCA414989962USP9Yc.4186C>G (p.Pro1396Ala)
n.4198C>G
c.3952C>G (p.Pro1318Ala)
c.4201C>G (p.Pro1401Ala)
Yg.12810765C>TCA414989965USP9Yc.4186C>T (p.Pro1396Ser)
n.4198C>T
c.3952C>T (p.Pro1318Ser)
c.4201C>T (p.Pro1401Ser)
Yg.12810766C>ACA414989968USP9Yc.4187C>A (p.Pro1396His)
n.4199C>A
c.3953C>A (p.Pro1318His)
c.4202C>A (p.Pro1401His)
Yg.12810766C>GCA414989970USP9Yc.4187C>G (p.Pro1396Arg)
n.4199C>G
c.3953C>G (p.Pro1318Arg)
c.4202C>G (p.Pro1401Arg)
Yg.12810766C>TCA414989972USP9Yc.4187C>T (p.Pro1396Leu)
n.4199C>T
c.3953C>T (p.Pro1318Leu)
c.4202C>T (p.Pro1401Leu)
Yg.12810767C>ACA519891613USP9Yc.4188C>A (p.Pro1396=)
n.4200C>A
c.3954C>A (p.Pro1318=)
c.4203C>A (p.Pro1401=)
Yg.12810767C>GCA519891619USP9Yc.4188C>G (p.Pro1396=)
n.4200C>G
c.3954C>G (p.Pro1318=)
c.4203C>G (p.Pro1401=)
Yg.12810767C>TCA519891620USP9Yc.4188C>T (p.Pro1396=)
n.4200C>T
c.3954C>T (p.Pro1318=)
c.4203C>T (p.Pro1401=)
Yg.12810768A>CCA414989981USP9Yc.4189A>C (p.Asn1397His)
n.4201A>C
c.3955A>C (p.Asn1319His)
c.4204A>C (p.Asn1402His)
Yg.12810768A>GCA414989983USP9Yc.4189A>G (p.Asn1397Asp)
n.4201A>G
c.3955A>G (p.Asn1319Asp)
c.4204A>G (p.Asn1402Asp)
Yg.12810768A>TCA414989986USP9Yc.4189A>T (p.Asn1397Tyr)
n.4201A>T
c.3955A>T (p.Asn1319Tyr)
c.4204A>T (p.Asn1402Tyr)
Yg.12810769A=CA2470559203USP9Yc.4190A= (p.Asn1397=)
n.4202A=
c.3956A= (p.Asn1319=)
c.4205A= (p.Asn1402=)
Yg.12810769A>CCA414989990USP9Yc.4190A>C (p.Asn1397Thr)
n.4202A>C
c.3956A>C (p.Asn1319Thr)
c.4205A>C (p.Asn1402Thr)
Yg.12810769A>GCA414989987USP9Yc.4190A>G (p.Asn1397Ser)
n.4202A>G
c.3956A>G (p.Asn1319Ser)
c.4205A>G (p.Asn1402Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.12810769A>TCA414989988USP9Yc.4190A>T (p.Asn1397Ile)
n.4202A>T
c.3956A>T (p.Asn1319Ile)
c.4205A>T (p.Asn1402Ile)
Yg.12810770T>ACA414989994USP9Yc.4191T>A (p.Asn1397Lys)
n.4203T>A
c.3957T>A (p.Asn1319Lys)
c.4206T>A (p.Asn1402Lys)
Yg.12810770T>CCA519891644USP9Yc.4191T>C (p.Asn1397=)
n.4203T>C
c.3957T>C (p.Asn1319=)
c.4206T>C (p.Asn1402=)
Yg.12810770T>GCA414989995USP9Yc.4191T>G (p.Asn1397Lys)
n.4203T>G
c.3957T>G (p.Asn1319Lys)
c.4206T>G (p.Asn1402Lys)
Yg.12810771G>ACA414990003USP9Yc.4192G>A (p.Ala1398Thr)
n.4204G>A
c.3958G>A (p.Ala1320Thr)
c.4207G>A (p.Ala1403Thr)
Yg.12810771G>CCA414990009USP9Yc.4192G>C (p.Ala1398Pro)
n.4204G>C
c.3958G>C (p.Ala1320Pro)
c.4207G>C (p.Ala1403Pro)
Yg.12810771G>TCA414990014USP9Yc.4192G>T (p.Ala1398Ser)
n.4204G>T
c.3958G>T (p.Ala1320Ser)
c.4207G>T (p.Ala1403Ser)
Yg.12810772C>ACA414990018USP9Yc.4193C>A (p.Ala1398Asp)
n.4205C>A
c.3959C>A (p.Ala1320Asp)
c.4208C>A (p.Ala1403Asp)
Yg.12810772C>GCA414990022USP9Yc.4193C>G (p.Ala1398Gly)
n.4205C>G
c.3959C>G (p.Ala1320Gly)
c.4208C>G (p.Ala1403Gly)
Yg.12810772C>TCA414990029USP9Yc.4193C>T (p.Ala1398Val)
n.4205C>T
c.3959C>T (p.Ala1320Val)
c.4208C>T (p.Ala1403Val)
Yg.12810773T>ACA519891674USP9Yc.4194T>A (p.Ala1398=)
n.4206T>A
c.3960T>A (p.Ala1320=)
c.4209T>A (p.Ala1403=)
Yg.12810773T>CCA519891675USP9Yc.4194T>C (p.Ala1398=)
n.4206T>C
c.3960T>C (p.Ala1320=)
c.4209T>C (p.Ala1403=)
Yg.12810773T>GCA519891676USP9Yc.4194T>G (p.Ala1398=)
n.4206T>G
c.3960T>G (p.Ala1320=)
c.4209T>G (p.Ala1403=)
Yg.12810774G>ACA414990033USP9Yc.4195G>A (p.Glu1399Lys)
n.4207G>A
c.3961G>A (p.Glu1321Lys)
c.4210G>A (p.Glu1404Lys)
COSMIC
Yg.12810774G>CCA414990034USP9Yc.4195G>C (p.Glu1399Gln)
n.4207G>C
c.3961G>C (p.Glu1321Gln)
c.4210G>C (p.Glu1404Gln)
Yg.12810774G>TCA414990035USP9Yc.4195G>T (p.Glu1399Ter)
n.4207G>T
c.3961G>T (p.Glu1321Ter)
c.4210G>T (p.Glu1404Ter)
Yg.12810775A>CCA414990036USP9Yc.4196A>C (p.Glu1399Ala)
n.4208A>C
c.3962A>C (p.Glu1321Ala)
c.4211A>C (p.Glu1404Ala)
Yg.12810775A>GCA414990040USP9Yc.4196A>G (p.Glu1399Gly)
n.4208A>G
c.3962A>G (p.Glu1321Gly)
c.4211A>G (p.Glu1404Gly)
Yg.12810775A>TCA414990038USP9Yc.4196A>T (p.Glu1399Val)
n.4208A>T
c.3962A>T (p.Glu1321Val)
c.4211A>T (p.Glu1404Val)
Yg.12810776A>CCA414990043USP9Yc.4197A>C (p.Glu1399Asp)
n.4209A>C
c.3963A>C (p.Glu1321Asp)
c.4212A>C (p.Glu1404Asp)
Yg.12810776A>GCA519891693USP9Yc.4197A>G (p.Glu1399=)
n.4209A>G
c.3963A>G (p.Glu1321=)
c.4212A>G (p.Glu1404=)
Yg.12810776A>TCA414990045USP9Yc.4197A>T (p.Glu1399Asp)
n.4209A>T
c.3963A>T (p.Glu1321Asp)
c.4212A>T (p.Glu1404Asp)
Yg.12810777G>ACA414990047USP9Yc.4198G>A (p.Val1400Ile)
n.4210G>A
c.3964G>A (p.Val1322Ile)
c.4213G>A (p.Val1405Ile)
Yg.12810777G>CCA414990050USP9Yc.4198G>C (p.Val1400Leu)
n.4210G>C
c.3964G>C (p.Val1322Leu)
c.4213G>C (p.Val1405Leu)
Yg.12810777G>TCA414990052USP9Yc.4198G>T (p.Val1400Phe)
n.4210G>T
c.3964G>T (p.Val1322Phe)
c.4213G>T (p.Val1405Phe)
Yg.12810778T>ACA414990056USP9Yc.4199T>A (p.Val1400Asp)
n.4211T>A
c.3965T>A (p.Val1322Asp)
c.4214T>A (p.Val1405Asp)
Yg.12810778T>CCA414990058USP9Yc.4199T>C (p.Val1400Ala)
n.4211T>C
c.3965T>C (p.Val1322Ala)
c.4214T>C (p.Val1405Ala)
Yg.12810778T>GCA414990062USP9Yc.4199T>G (p.Val1400Gly)
n.4211T>G
c.3965T>G (p.Val1322Gly)
c.4214T>G (p.Val1405Gly)
Yg.12810783_12810785delCA2766241776USP9Yc.4204_4206del (p.Leu1402del)
n.4216_4218del
c.3970_3972del (p.Leu1324del)
c.4219_4221del (p.Leu1407del)
Yg.12810779T>ACA519891703USP9Yc.4200T>A (p.Val1400=)
n.4212T>A
c.3966T>A (p.Val1322=)
c.4215T>A (p.Val1405=)
Yg.12810779T>CCA519891704USP9Yc.4200T>C (p.Val1400=)
n.4212T>C
c.3966T>C (p.Val1322=)
c.4215T>C (p.Val1405=)
Yg.12810779T>GCA519891706USP9Yc.4200T>G (p.Val1400=)
n.4212T>G
c.3966T>G (p.Val1322=)
c.4215T>G (p.Val1405=)
Yg.12810780C>ACA414990069USP9Yc.4201C>A (p.Leu1401Ile)
n.4213C>A
c.3967C>A (p.Leu1323Ile)
c.4216C>A (p.Leu1406Ile)
Yg.12810780C>GCA414990072USP9Yc.4201C>G (p.Leu1401Val)
n.4213C>G
c.3967C>G (p.Leu1323Val)
c.4216C>G (p.Leu1406Val)
Yg.12810780C>TCA414990073USP9Yc.4201C>T (p.Leu1401Phe)
n.4213C>T
c.3967C>T (p.Leu1323Phe)
c.4216C>T (p.Leu1406Phe)
Yg.12810781T>ACA414990084USP9Yc.4202T>A (p.Leu1401His)
n.4214T>A
c.3968T>A (p.Leu1323His)
c.4217T>A (p.Leu1406His)
Yg.12810781T>CCA414990077USP9Yc.4202T>C (p.Leu1401Pro)
n.4214T>C
c.3968T>C (p.Leu1323Pro)
c.4217T>C (p.Leu1406Pro)
Yg.12810781T>GCA414990082USP9Yc.4202T>G (p.Leu1401Arg)
n.4214T>G
c.3968T>G (p.Leu1323Arg)
c.4217T>G (p.Leu1406Arg)
Yg.12810782T>ACA519891745USP9Yc.4203T>A (p.Leu1401=)
n.4215T>A
c.3969T>A (p.Leu1323=)
c.4218T>A (p.Leu1406=)
Yg.12810782T>CCA519891749USP9Yc.4203T>C (p.Leu1401=)
n.4215T>C
c.3969T>C (p.Leu1323=)
c.4218T>C (p.Leu1406=)
Yg.12810782T>GCA519891740USP9Yc.4203T>G (p.Leu1401=)
n.4215T>G
c.3969T>G (p.Leu1323=)
c.4218T>G (p.Leu1406=)
Yg.12810783C>ACA414990088USP9Yc.4204C>A (p.Leu1402Ile)
n.4216C>A
c.3970C>A (p.Leu1324Ile)
c.4219C>A (p.Leu1407Ile)
Yg.12810783C>GCA414990092USP9Yc.4204C>G (p.Leu1402Val)
n.4216C>G
c.3970C>G (p.Leu1324Val)
c.4219C>G (p.Leu1407Val)
Yg.12810783C>TCA414990093USP9Yc.4204C>T (p.Leu1402Phe)
n.4216C>T
c.3970C>T (p.Leu1324Phe)
c.4219C>T (p.Leu1407Phe)
Yg.12810784T>ACA414990094USP9Yc.4205T>A (p.Leu1402His)
n.4217T>A
c.3971T>A (p.Leu1324His)
c.4220T>A (p.Leu1407His)
Yg.12810784T>CCA10573302USP9Yc.4205T>C (p.Leu1402Pro)
n.4217T>C
c.3971T>C (p.Leu1324Pro)
c.4220T>C (p.Leu1407Pro)
dbSNP ExAC gnomAD v2
Yg.12810784T>GCA414990096USP9Yc.4205T>G (p.Leu1402Arg)
n.4217T>G
c.3971T>G (p.Leu1324Arg)
c.4220T>G (p.Leu1407Arg)
Yg.12810784T=CA2470559204USP9Yc.4205T= (p.Leu1402=)
n.4217T=
c.3971T= (p.Leu1324=)
c.4220T= (p.Leu1407=)
Yg.12810785T>ACA519891778USP9Yc.4206T>A (p.Leu1402=)
n.4218T>A
c.3972T>A (p.Leu1324=)
c.4221T>A (p.Leu1407=)
Yg.12810785T>CCA519891781USP9Yc.4206T>C (p.Leu1402=)
n.4218T>C
c.3972T>C (p.Leu1324=)
c.4221T>C (p.Leu1407=)
Yg.12810785T>GCA519891784USP9Yc.4206T>G (p.Leu1402=)
n.4218T>G
c.3972T>G (p.Leu1324=)
c.4221T>G (p.Leu1407=)
Yg.12810786G>ACA414990099USP9Yc.4207G>A (p.Val1403Ile)
n.4219G>A
c.3973G>A (p.Val1325Ile)
c.4222G>A (p.Val1408Ile)
Yg.12810786G>CCA414990102USP9Yc.4207G>C (p.Val1403Leu)
n.4219G>C
c.3973G>C (p.Val1325Leu)
c.4222G>C (p.Val1408Leu)
Yg.12810786G>TCA414990105USP9Yc.4207G>T (p.Val1403Phe)
n.4219G>T
c.3973G>T (p.Val1325Phe)
c.4222G>T (p.Val1408Phe)
Yg.12810787T>ACA414990123USP9Yc.4208T>A (p.Val1403Asp)
n.4220T>A
c.3974T>A (p.Val1325Asp)
c.4223T>A (p.Val1408Asp)
Yg.12810787T>CCA414990121USP9Yc.4208T>C (p.Val1403Ala)
n.4220T>C
c.3974T>C (p.Val1325Ala)
c.4223T>C (p.Val1408Ala)
Yg.12810787T>GCA414990111USP9Yc.4208T>G (p.Val1403Gly)
n.4220T>G
c.3974T>G (p.Val1325Gly)
c.4223T>G (p.Val1408Gly)
Yg.12810788C>ACA519891798USP9Yc.4209C>A (p.Val1403=)
n.4221C>A
c.3975C>A (p.Val1325=)
c.4224C>A (p.Val1408=)
Yg.12810788C>GCA519891797USP9Yc.4209C>G (p.Val1403=)
n.4221C>G
c.3975C>G (p.Val1325=)
c.4224C>G (p.Val1408=)
Yg.12810788C>TCA519891796USP9Yc.4209C>T (p.Val1403=)
n.4221C>T
c.3975C>T (p.Val1325=)
c.4224C>T (p.Val1408=)
Yg.12810789A>CCA414990127USP9Yc.4210A>C (p.Ser1404Arg)
n.4222A>C
c.3976A>C (p.Ser1326Arg)
c.4225A>C (p.Ser1409Arg)
Yg.12810789A>GCA414990129USP9Yc.4210A>G (p.Ser1404Gly)
n.4222A>G
c.3976A>G (p.Ser1326Gly)
c.4225A>G (p.Ser1409Gly)
Yg.12810789A>TCA414990131USP9Yc.4210A>T (p.Ser1404Cys)
n.4222A>T
c.3976A>T (p.Ser1326Cys)
c.4225A>T (p.Ser1409Cys)

Number of alleles fetched