Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12813008T>ACA414992713USP9Yc.4565T>A (p.Val1522Glu)
n.4577T>A
c.4331T>A (p.Val1444Glu)
c.4580T>A (p.Val1527Glu)
Yg.12813008T>CCA414992715USP9Yc.4565T>C (p.Val1522Ala)
n.4577T>C
c.4331T>C (p.Val1444Ala)
c.4580T>C (p.Val1527Ala)
Yg.12813008T>GCA414992719USP9Yc.4565T>G (p.Val1522Gly)
n.4577T>G
c.4331T>G (p.Val1444Gly)
c.4580T>G (p.Val1527Gly)
Yg.12813009A=CA2470559354USP9Yc.4566A= (p.Val1522=)
n.4578A=
c.4332A= (p.Val1444=)
c.4581A= (p.Val1527=)
Yg.12813009A>CCA519896384USP9Yc.4566A>C (p.Val1522=)
n.4578A>C
c.4332A>C (p.Val1444=)
c.4581A>C (p.Val1527=)
Yg.12813009A>GCA519896382USP9Yc.4566A>G (p.Val1522=)
n.4578A>G
c.4332A>G (p.Val1444=)
c.4581A>G (p.Val1527=)
Yg.12813009A>TCA519896380USP9Yc.4566A>T (p.Val1522=)
n.4578A>T
c.4332A>T (p.Val1444=)
c.4581A>T (p.Val1527=)
Yg.12813009_12813010insTCA1139264734USP9Yc.4566_4567insT (p.Asp1523Ter)
n.4578_4579insT
c.4332_4333insT (p.Asp1445Ter)
c.4581_4582insT (p.Asp1528Ter)
dbSNP gnomAD v3 gnomAD v4
Yg.12813010G>ACA414992722USP9Yc.4567G>A (p.Asp1523Asn)
n.4579G>A
c.4333G>A (p.Asp1445Asn)
c.4582G>A (p.Asp1528Asn)
Yg.12813010G>CCA414992725USP9Yc.4567G>C (p.Asp1523His)
n.4579G>C
c.4333G>C (p.Asp1445His)
c.4582G>C (p.Asp1528His)
Yg.12813010G>TCA414992729USP9Yc.4567G>T (p.Asp1523Tyr)
n.4579G>T
c.4333G>T (p.Asp1445Tyr)
c.4582G>T (p.Asp1528Tyr)
Yg.12813011A>CCA414992737USP9Yc.4568A>C (p.Asp1523Ala)
n.4580A>C
c.4334A>C (p.Asp1445Ala)
c.4583A>C (p.Asp1528Ala)
Yg.12813011A>GCA414992732USP9Yc.4568A>G (p.Asp1523Gly)
n.4580A>G
c.4334A>G (p.Asp1445Gly)
c.4583A>G (p.Asp1528Gly)
Yg.12813011A>TCA414992734USP9Yc.4568A>T (p.Asp1523Val)
n.4580A>T
c.4334A>T (p.Asp1445Val)
c.4583A>T (p.Asp1528Val)
Yg.12813012C>ACA414992741USP9Yc.4569C>A (p.Asp1523Glu)
n.4581C>A
c.4335C>A (p.Asp1445Glu)
c.4584C>A (p.Asp1528Glu)
Yg.12813012C>GCA414992743USP9Yc.4569C>G (p.Asp1523Glu)
n.4581C>G
c.4335C>G (p.Asp1445Glu)
c.4584C>G (p.Asp1528Glu)
Yg.12813012C>TCA519896400USP9Yc.4569C>T (p.Asp1523=)
n.4581C>T
c.4335C>T (p.Asp1445=)
c.4584C>T (p.Asp1528=)
Yg.12813013T>ACA414992745USP9Yc.4570T>A (p.Cys1524Ser)
n.4582T>A
c.4336T>A (p.Cys1446Ser)
c.4585T>A (p.Cys1529Ser)
Yg.12813013T>CCA414992747USP9Yc.4570T>C (p.Cys1524Arg)
n.4582T>C
c.4336T>C (p.Cys1446Arg)
c.4585T>C (p.Cys1529Arg)
Yg.12813013T>GCA414992751USP9Yc.4570T>G (p.Cys1524Gly)
n.4582T>G
c.4336T>G (p.Cys1446Gly)
c.4585T>G (p.Cys1529Gly)
Yg.12813014G>ACA414992753USP9Yc.4571G>A (p.Cys1524Tyr)
n.4583G>A
c.4337G>A (p.Cys1446Tyr)
c.4586G>A (p.Cys1529Tyr)
Yg.12813014G>CCA414992756USP9Yc.4571G>C (p.Cys1524Ser)
n.4583G>C
c.4337G>C (p.Cys1446Ser)
c.4586G>C (p.Cys1529Ser)
Yg.12813014G>TCA414992759USP9Yc.4571G>T (p.Cys1524Phe)
n.4583G>T
c.4337G>T (p.Cys1446Phe)
c.4586G>T (p.Cys1529Phe)
Yg.12813015T>ACA414992762USP9Yc.4572T>A (p.Cys1524Ter)
n.4584T>A
c.4338T>A (p.Cys1446Ter)
c.4587T>A (p.Cys1529Ter)
Yg.12813015T>CCA519896420USP9Yc.4572T>C (p.Cys1524=)
n.4584T>C
c.4338T>C (p.Cys1446=)
c.4587T>C (p.Cys1529=)
Yg.12813015T>GCA414992764USP9Yc.4572T>G (p.Cys1524Trp)
n.4584T>G
c.4338T>G (p.Cys1446Trp)
c.4587T>G (p.Cys1529Trp)
Yg.12813016T>ACA414992767USP9Yc.4573T>A (p.Leu1525Met)
n.4585T>A
c.4339T>A (p.Leu1447Met)
c.4588T>A (p.Leu1530Met)
Yg.12813016T>CCA519896428USP9Yc.4573T>C (p.Leu1525=)
n.4585T>C
c.4339T>C (p.Leu1447=)
c.4588T>C (p.Leu1530=)
Yg.12813016T>GCA414992770USP9Yc.4573T>G (p.Leu1525Val)
n.4585T>G
c.4339T>G (p.Leu1447Val)
c.4588T>G (p.Leu1530Val)
Yg.12813017T>ACA414992772USP9Yc.4574T>A (p.Leu1525Ter)
n.4586T>A
c.4340T>A (p.Leu1447Ter)
c.4589T>A (p.Leu1530Ter)
Yg.12813017T>CCA414992775USP9Yc.4574T>C (p.Leu1525Ser)
n.4586T>C
c.4340T>C (p.Leu1447Ser)
c.4589T>C (p.Leu1530Ser)
Yg.12813017T>GCA414992778USP9Yc.4574T>G (p.Leu1525Trp)
n.4586T>G
c.4340T>G (p.Leu1447Trp)
c.4589T>G (p.Leu1530Trp)
Yg.12813018G>ACA519896437USP9Yc.4575G>A (p.Leu1525=)
n.4587G>A
c.4341G>A (p.Leu1447=)
c.4590G>A (p.Leu1530=)
Yg.12813018G>CCA414992782USP9Yc.4575G>C (p.Leu1525Phe)
n.4587G>C
c.4341G>C (p.Leu1447Phe)
c.4590G>C (p.Leu1530Phe)
Yg.12813018G>TCA414992784USP9Yc.4575G>T (p.Leu1525Phe)
n.4587G>T
c.4341G>T (p.Leu1447Phe)
c.4590G>T (p.Leu1530Phe)
Yg.12813019A>CCA414992786USP9Yc.4576A>C (p.Thr1526Pro)
n.4588A>C
c.4342A>C (p.Thr1448Pro)
c.4591A>C (p.Thr1531Pro)
Yg.12813019A>GCA414992788USP9Yc.4576A>G (p.Thr1526Ala)
n.4588A>G
c.4342A>G (p.Thr1448Ala)
c.4591A>G (p.Thr1531Ala)
Yg.12813019A>TCA414992791USP9Yc.4576A>T (p.Thr1526Ser)
n.4588A>T
c.4342A>T (p.Thr1448Ser)
c.4591A>T (p.Thr1531Ser)
Yg.12813020C>ACA414992795USP9Yc.4577C>A (p.Thr1526Asn)
n.4589C>A
c.4343C>A (p.Thr1448Asn)
c.4592C>A (p.Thr1531Asn)
Yg.12813020C>GCA414992797USP9Yc.4577C>G (p.Thr1526Ser)
n.4589C>G
c.4343C>G (p.Thr1448Ser)
c.4592C>G (p.Thr1531Ser)
Yg.12813020C>TCA414992800USP9Yc.4577C>T (p.Thr1526Ile)
n.4589C>T
c.4343C>T (p.Thr1448Ile)
c.4592C>T (p.Thr1531Ile)
Yg.12813021T>ACA519896456USP9Yc.4578T>A (p.Thr1526=)
n.4590T>A
c.4344T>A (p.Thr1448=)
c.4593T>A (p.Thr1531=)
Yg.12813021T>CCA519896454USP9Yc.4578T>C (p.Thr1526=)
n.4590T>C
c.4344T>C (p.Thr1448=)
c.4593T>C (p.Thr1531=)
Yg.12813021T>GCA519896455USP9Yc.4578T>G (p.Thr1526=)
n.4590T>G
c.4344T>G (p.Thr1448=)
c.4593T>G (p.Thr1531=)
Yg.12813022G>ACA414992809USP9Yc.4579G>A (p.Glu1527Lys)
n.4591G>A
c.4345G>A (p.Glu1449Lys)
c.4594G>A (p.Glu1532Lys)
Yg.12813022G>CCA414992804USP9Yc.4579G>C (p.Glu1527Gln)
n.4591G>C
c.4345G>C (p.Glu1449Gln)
c.4594G>C (p.Glu1532Gln)
Yg.12813022G>TCA414992805USP9Yc.4579G>T (p.Glu1527Ter)
n.4591G>T
c.4345G>T (p.Glu1449Ter)
c.4594G>T (p.Glu1532Ter)
Yg.12813023A>CCA414992812USP9Yc.4580A>C (p.Glu1527Ala)
n.4592A>C
c.4346A>C (p.Glu1449Ala)
c.4595A>C (p.Glu1532Ala)
Yg.12813023A>GCA414992813USP9Yc.4580A>G (p.Glu1527Gly)
n.4592A>G
c.4346A>G (p.Glu1449Gly)
c.4595A>G (p.Glu1532Gly)
Yg.12813023A>TCA414992815USP9Yc.4580A>T (p.Glu1527Val)
n.4592A>T
c.4346A>T (p.Glu1449Val)
c.4595A>T (p.Glu1532Val)
Yg.12813024A>CCA414992818USP9Yc.4581A>C (p.Glu1527Asp)
n.4593A>C
c.4347A>C (p.Glu1449Asp)
c.4596A>C (p.Glu1532Asp)
Yg.12813024A>GCA519896486USP9Yc.4581A>G (p.Glu1527=)
n.4593A>G
c.4347A>G (p.Glu1449=)
c.4596A>G (p.Glu1532=)
Yg.12813024A>TCA414992822USP9Yc.4581A>T (p.Glu1527Asp)
n.4593A>T
c.4347A>T (p.Glu1449Asp)
c.4596A>T (p.Glu1532Asp)
Yg.12813025A>CCA414992826USP9Yc.4582A>C (p.Met1528Leu)
n.4594A>C
c.4348A>C (p.Met1450Leu)
c.4597A>C (p.Met1533Leu)
Yg.12813025A>GCA414992829USP9Yc.4582A>G (p.Met1528Val)
n.4594A>G
c.4348A>G (p.Met1450Val)
c.4597A>G (p.Met1533Val)
Yg.12813025A>TCA414992830USP9Yc.4582A>T (p.Met1528Leu)
n.4594A>T
c.4348A>T (p.Met1450Leu)
c.4597A>T (p.Met1533Leu)
Yg.12813026T>ACA414992834USP9Yc.4583T>A (p.Met1528Lys)
n.4595T>A
c.4349T>A (p.Met1450Lys)
c.4598T>A (p.Met1533Lys)
Yg.12813026T>CCA414992837USP9Yc.4583T>C (p.Met1528Thr)
n.4595T>C
c.4349T>C (p.Met1450Thr)
c.4598T>C (p.Met1533Thr)
Yg.12813026T>GCA414992839USP9Yc.4583T>G (p.Met1528Arg)
n.4595T>G
c.4349T>G (p.Met1450Arg)
c.4598T>G (p.Met1533Arg)
Yg.12813027G>ACA414992848USP9Yc.4584G>A (p.Met1528Ile)
n.4596G>A
c.4350G>A (p.Met1450Ile)
c.4599G>A (p.Met1533Ile)
Yg.12813027G>CCA414992844USP9Yc.4584G>C (p.Met1528Ile)
n.4596G>C
c.4350G>C (p.Met1450Ile)
c.4599G>C (p.Met1533Ile)
Yg.12813027G>TCA414992842USP9Yc.4584G>T (p.Met1528Ile)
n.4596G>T
c.4350G>T (p.Met1450Ile)
c.4599G>T (p.Met1533Ile)
Yg.12813028T>ACA414992852USP9Yc.4585T>A (p.Tyr1529Asn)
n.4597T>A
c.4351T>A (p.Tyr1451Asn)
c.4600T>A (p.Tyr1534Asn)
Yg.12813028T>CCA414992850USP9Yc.4585T>C (p.Tyr1529His)
n.4597T>C
c.4351T>C (p.Tyr1451His)
c.4600T>C (p.Tyr1534His)
Yg.12813028T>GCA414992856USP9Yc.4585T>G (p.Tyr1529Asp)
n.4597T>G
c.4351T>G (p.Tyr1451Asp)
c.4600T>G (p.Tyr1534Asp)
Yg.12813029A>CCA414992859USP9Yc.4586A>C (p.Tyr1529Ser)
n.4598A>C
c.4352A>C (p.Tyr1451Ser)
c.4601A>C (p.Tyr1534Ser)
COSMIC
Yg.12813029A>GCA414992862USP9Yc.4586A>G (p.Tyr1529Cys)
n.4598A>G
c.4352A>G (p.Tyr1451Cys)
c.4601A>G (p.Tyr1534Cys)
Yg.12813029A>TCA414992865USP9Yc.4586A>T (p.Tyr1529Phe)
n.4598A>T
c.4352A>T (p.Tyr1451Phe)
c.4601A>T (p.Tyr1534Phe)
Yg.12813030T>ACA414992867USP9Yc.4587T>A (p.Tyr1529Ter)
n.4599T>A
c.4353T>A (p.Tyr1451Ter)
c.4602T>A (p.Tyr1534Ter)
Yg.12813030T>CCA519896521USP9Yc.4587T>C (p.Tyr1529=)
n.4599T>C
c.4353T>C (p.Tyr1451=)
c.4602T>C (p.Tyr1534=)
Yg.12813030T>GCA414992869USP9Yc.4587T>G (p.Tyr1529Ter)
n.4599T>G
c.4353T>G (p.Tyr1451Ter)
c.4602T>G (p.Tyr1534Ter)
Yg.12813031T>ACA414992878USP9Yc.4588T>A (p.Tyr1530Asn)
n.4600T>A
c.4354T>A (p.Tyr1452Asn)
c.4603T>A (p.Tyr1535Asn)
Yg.12813031T>CCA414992880USP9Yc.4588T>C (p.Tyr1530His)
n.4600T>C
c.4354T>C (p.Tyr1452His)
c.4603T>C (p.Tyr1535His)
Yg.12813031T>GCA414992883USP9Yc.4588T>G (p.Tyr1530Asp)
n.4600T>G
c.4354T>G (p.Tyr1452Asp)
c.4603T>G (p.Tyr1535Asp)
Yg.12813032A>CCA414992887USP9Yc.4589A>C (p.Tyr1530Ser)
n.4601A>C
c.4355A>C (p.Tyr1452Ser)
c.4604A>C (p.Tyr1535Ser)
Yg.12813032A>GCA414992889USP9Yc.4589A>G (p.Tyr1530Cys)
n.4601A>G
c.4355A>G (p.Tyr1452Cys)
c.4604A>G (p.Tyr1535Cys)
Yg.12813032A>TCA414992891USP9Yc.4589A>T (p.Tyr1530Phe)
n.4601A>T
c.4355A>T (p.Tyr1452Phe)
c.4604A>T (p.Tyr1535Phe)
Yg.12813033C>ACA414992892USP9Yc.4590C>A (p.Tyr1530Ter)
n.4602C>A
c.4356C>A (p.Tyr1452Ter)
c.4605C>A (p.Tyr1535Ter)
Yg.12813033C>GCA414992893USP9Yc.4590C>G (p.Tyr1530Ter)
n.4602C>G
c.4356C>G (p.Tyr1452Ter)
c.4605C>G (p.Tyr1535Ter)
COSMIC
Yg.12813033C>TCA519896541USP9Yc.4590C>T (p.Tyr1530=)
n.4602C>T
c.4356C>T (p.Tyr1452=)
c.4605C>T (p.Tyr1535=)
Yg.12813034A>CCA414992894USP9Yc.4591A>C (p.Met1531Leu)
n.4603A>C
c.4357A>C (p.Met1453Leu)
c.4606A>C (p.Met1536Leu)
Yg.12813034A>GCA414992897USP9Yc.4591A>G (p.Met1531Val)
n.4603A>G
c.4357A>G (p.Met1453Val)
c.4606A>G (p.Met1536Val)
Yg.12813034A>TCA414992895USP9Yc.4591A>T (p.Met1531Leu)
n.4603A>T
c.4357A>T (p.Met1453Leu)
c.4606A>T (p.Met1536Leu)
Yg.12813035T>ACA414992899USP9Yc.4592T>A (p.Met1531Lys)
n.4604T>A
c.4358T>A (p.Met1453Lys)
c.4607T>A (p.Met1536Lys)
Yg.12813035T>CCA414992902USP9Yc.4592T>C (p.Met1531Thr)
n.4604T>C
c.4358T>C (p.Met1453Thr)
c.4607T>C (p.Met1536Thr)
Yg.12813035T>GCA414992904USP9Yc.4592T>G (p.Met1531Arg)
n.4604T>G
c.4358T>G (p.Met1453Arg)
c.4607T>G (p.Met1536Arg)
Yg.12813036G>ACA414992907USP9Yc.4593G>A (p.Met1531Ile)
n.4605G>A
c.4359G>A (p.Met1453Ile)
c.4608G>A (p.Met1536Ile)
Yg.12813036G>CCA414992910USP9Yc.4593G>C (p.Met1531Ile)
n.4605G>C
c.4359G>C (p.Met1453Ile)
c.4608G>C (p.Met1536Ile)
Yg.12813036G>TCA414992912USP9Yc.4593G>T (p.Met1531Ile)
n.4605G>T
c.4359G>T (p.Met1453Ile)
c.4608G>T (p.Met1536Ile)
Yg.12813037G>ACA414992914USP9Yc.4594G>A (p.Gly1532Ser)
n.4606G>A
c.4360G>A (p.Gly1454Ser)
c.4609G>A (p.Gly1537Ser)
Yg.12813037G>CCA414992917USP9Yc.4594G>C (p.Gly1532Arg)
n.4606G>C
c.4360G>C (p.Gly1454Arg)
c.4609G>C (p.Gly1537Arg)
Yg.12813037G>TCA414992921USP9Yc.4594G>T (p.Gly1532Cys)
n.4606G>T
c.4360G>T (p.Gly1454Cys)
c.4609G>T (p.Gly1537Cys)
Yg.12813038G>ACA414992928USP9Yc.4595G>A (p.Gly1532Asp)
n.4607G>A
c.4361G>A (p.Gly1454Asp)
c.4610G>A (p.Gly1537Asp)
Yg.12813038G>CCA414992926USP9Yc.4595G>C (p.Gly1532Ala)
n.4607G>C
c.4361G>C (p.Gly1454Ala)
c.4610G>C (p.Gly1537Ala)
Yg.12813038G>TCA414992924USP9Yc.4595G>T (p.Gly1532Val)
n.4607G>T
c.4361G>T (p.Gly1454Val)
c.4610G>T (p.Gly1537Val)
Yg.12813039C>ACA519896578USP9Yc.4596C>A (p.Gly1532=)
n.4608C>A
c.4362C>A (p.Gly1454=)
c.4611C>A (p.Gly1537=)
Yg.12813039C>GCA519896581USP9Yc.4596C>G (p.Gly1532=)
n.4608C>G
c.4362C>G (p.Gly1454=)
c.4611C>G (p.Gly1537=)
Yg.12813039C>TCA519896583USP9Yc.4596C>T (p.Gly1532=)
n.4608C>T
c.4362C>T (p.Gly1454=)
c.4611C>T (p.Gly1537=)
Yg.12813040A>CCA414992932USP9Yc.4597A>C (p.Thr1533Pro)
n.4609A>C
c.4363A>C (p.Thr1455Pro)
c.4612A>C (p.Thr1538Pro)
Yg.12813040A>GCA414992937USP9Yc.4597A>G (p.Thr1533Ala)
n.4609A>G
c.4363A>G (p.Thr1455Ala)
c.4612A>G (p.Thr1538Ala)
Yg.12813040A>TCA414992939USP9Yc.4597A>T (p.Thr1533Ser)
n.4609A>T
c.4363A>T (p.Thr1455Ser)
c.4612A>T (p.Thr1538Ser)
Yg.12813041C>ACA414992941USP9Yc.4598C>A (p.Thr1533Lys)
n.4610C>A
c.4364C>A (p.Thr1455Lys)
c.4613C>A (p.Thr1538Lys)
Yg.12813041C>GCA414992943USP9Yc.4598C>G (p.Thr1533Arg)
n.4610C>G
c.4364C>G (p.Thr1455Arg)
c.4613C>G (p.Thr1538Arg)
Yg.12813041C>TCA414992947USP9Yc.4598C>T (p.Thr1533Ile)
n.4610C>T
c.4364C>T (p.Thr1455Ile)
c.4613C>T (p.Thr1538Ile)
Yg.12813042A=CA2470559355USP9Yc.4599A= (p.Thr1533=)
n.4611A=
c.4365A= (p.Thr1455=)
c.4614A= (p.Thr1538=)
Yg.12813042A>CCA519896599USP9Yc.4599A>C (p.Thr1533=)
n.4611A>C
c.4365A>C (p.Thr1455=)
c.4614A>C (p.Thr1538=)
Yg.12813042A>GCA10573335USP9Yc.4599A>G (p.Thr1533=)
n.4611A>G
c.4365A>G (p.Thr1455=)
c.4614A>G (p.Thr1538=)
dbSNP ExAC gnomAD v2
Yg.12813042A>TCA519896601USP9Yc.4599A>T (p.Thr1533=)
n.4611A>T
c.4365A>T (p.Thr1455=)
c.4614A>T (p.Thr1538=)
Yg.12813043G>ACA10573336USP9Yc.4600G>A (p.Ala1534Thr)
n.4612G>A
c.4366G>A (p.Ala1456Thr)
c.4615G>A (p.Ala1539Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12813043G>CCA414992954USP9Yc.4600G>C (p.Ala1534Pro)
n.4612G>C
c.4366G>C (p.Ala1456Pro)
c.4615G>C (p.Ala1539Pro)
Yg.12813043G=CA2470559356USP9Yc.4600G= (p.Ala1534=)
n.4612G=
c.4366G= (p.Ala1456=)
c.4615G= (p.Ala1539=)
Yg.12813043G>TCA414992955USP9Yc.4600G>T (p.Ala1534Ser)
n.4612G>T
c.4366G>T (p.Ala1456Ser)
c.4615G>T (p.Ala1539Ser)
Yg.12813044C>ACA414992958USP9Yc.4601C>A (p.Ala1534Glu)
n.4613C>A
c.4367C>A (p.Ala1456Glu)
c.4616C>A (p.Ala1539Glu)
Yg.12813044C>GCA414992960USP9Yc.4601C>G (p.Ala1534Gly)
n.4613C>G
c.4367C>G (p.Ala1456Gly)
c.4616C>G (p.Ala1539Gly)
Yg.12813044C>TCA414992962USP9Yc.4601C>T (p.Ala1534Val)
n.4613C>T
c.4367C>T (p.Ala1456Val)
c.4616C>T (p.Ala1539Val)
Yg.12813045A>CCA519896620USP9Yc.4602A>C (p.Ala1534=)
n.4614A>C
c.4368A>C (p.Ala1456=)
c.4617A>C (p.Ala1539=)
Yg.12813045A>GCA519896622USP9Yc.4602A>G (p.Ala1534=)
n.4614A>G
c.4368A>G (p.Ala1456=)
c.4617A>G (p.Ala1539=)
Yg.12813045A>TCA519896624USP9Yc.4602A>T (p.Ala1534=)
n.4614A>T
c.4368A>T (p.Ala1456=)
c.4617A>T (p.Ala1539=)
Yg.12813046A>CCA414992964USP9Yc.4603A>C (p.Ile1535Leu)
n.4615A>C
c.4369A>C (p.Ile1457Leu)
c.4618A>C (p.Ile1540Leu)
Yg.12813046A>GCA414992969USP9Yc.4603A>G (p.Ile1535Val)
n.4615A>G
c.4369A>G (p.Ile1457Val)
c.4618A>G (p.Ile1540Val)
Yg.12813046A>TCA414992966USP9Yc.4603A>T (p.Ile1535Phe)
n.4615A>T
c.4369A>T (p.Ile1457Phe)
c.4618A>T (p.Ile1540Phe)
Yg.12813047T>ACA414992972USP9Yc.4604T>A (p.Ile1535Asn)
n.4616T>A
c.4370T>A (p.Ile1457Asn)
c.4619T>A (p.Ile1540Asn)
Yg.12813047T>CCA414992974USP9Yc.4604T>C (p.Ile1535Thr)
n.4616T>C
c.4370T>C (p.Ile1457Thr)
c.4619T>C (p.Ile1540Thr)
Yg.12813047T>GCA414992975USP9Yc.4604T>G (p.Ile1535Ser)
n.4616T>G
c.4370T>G (p.Ile1457Ser)
c.4619T>G (p.Ile1540Ser)
Yg.12813048delCA2579747984USP9Yc.4605del (p.Thr1536LeufsTer?)
n.4617del
c.4371del (p.Thr1458LeufsTer?)
c.4620del (p.Thr1541LeufsTer?)
Yg.12813048T>ACA519896637USP9Yc.4605T>A (p.Ile1535=)
n.4617T>A
c.4371T>A (p.Ile1457=)
c.4620T>A (p.Ile1540=)
Yg.12813048T>CCA519896640USP9Yc.4605T>C (p.Ile1535=)
n.4617T>C
c.4371T>C (p.Ile1457=)
c.4620T>C (p.Ile1540=)
Yg.12813048T>GCA414992977USP9Yc.4605T>G (p.Ile1535Met)
n.4617T>G
c.4371T>G (p.Ile1457Met)
c.4620T>G (p.Ile1540Met)
Yg.12813049A>CCA414992980USP9Yc.4606A>C (p.Thr1536Pro)
n.4618A>C
c.4372A>C (p.Thr1458Pro)
c.4621A>C (p.Thr1541Pro)
Yg.12813049A>GCA414992982USP9Yc.4606A>G (p.Thr1536Ala)
n.4618A>G
c.4372A>G (p.Thr1458Ala)
c.4621A>G (p.Thr1541Ala)
Yg.12813049A>TCA414992984USP9Yc.4606A>T (p.Thr1536Ser)
n.4618A>T
c.4372A>T (p.Thr1458Ser)
c.4621A>T (p.Thr1541Ser)
Yg.12813050C>ACA414992986USP9Yc.4607C>A (p.Thr1536Asn)
n.4619C>A
c.4373C>A (p.Thr1458Asn)
c.4622C>A (p.Thr1541Asn)
Yg.12813050C>GCA414992988USP9Yc.4607C>G (p.Thr1536Ser)
n.4619C>G
c.4373C>G (p.Thr1458Ser)
c.4622C>G (p.Thr1541Ser)
Yg.12813050C>TCA414992991USP9Yc.4607C>T (p.Thr1536Ile)
n.4619C>T
c.4373C>T (p.Thr1458Ile)
c.4622C>T (p.Thr1541Ile)
Yg.12813051T>ACA519896655USP9Yc.4608T>A (p.Thr1536=)
n.4620T>A
c.4374T>A (p.Thr1458=)
c.4623T>A (p.Thr1541=)
Yg.12813051T>CCA519896657USP9Yc.4608T>C (p.Thr1536=)
n.4620T>C
c.4374T>C (p.Thr1458=)
c.4623T>C (p.Thr1541=)
Yg.12813051T>GCA519896660USP9Yc.4608T>G (p.Thr1536=)
n.4620T>G
c.4374T>G (p.Thr1458=)
c.4623T>G (p.Thr1541=)
Yg.12813052A>CCA414992995USP9Yc.4609A>C (p.Thr1537Pro)
n.4621A>C
c.4375A>C (p.Thr1459Pro)
c.4624A>C (p.Thr1542Pro)
Yg.12813052A>GCA414992998USP9Yc.4609A>G (p.Thr1537Ala)
n.4621A>G
c.4375A>G (p.Thr1459Ala)
c.4624A>G (p.Thr1542Ala)
Yg.12813052A>TCA414992993USP9Yc.4609A>T (p.Thr1537Ser)
n.4621A>T
c.4375A>T (p.Thr1459Ser)
c.4624A>T (p.Thr1542Ser)
Yg.12813053G>ACA414993000USP9Yc.4609+1G>A (n.4609+1G>A)
n.4621+1G>A
c.4375+1G>A (n.4375+1G>A)
c.4624+1G>A (n.4624+1G>A)
Yg.12813053G>CCA414993004USP9Yc.4609+1G>C (n.4609+1G>C)
n.4621+1G>C
c.4375+1G>C (n.4375+1G>C)
c.4624+1G>C (n.4624+1G>C)
Yg.12813053G=CA2470559357USP9Yc.4609+1G= (n.4609+1G=)
n.4621+1G=
c.4375+1G= (n.4375+1G=)
c.4624+1G= (n.4624+1G=)
Yg.12813053G>TCA337720545USP9Yc.4609+1G>T (n.4609+1G>T)
n.4621+1G>T
c.4375+1G>T (n.4375+1G>T)
c.4624+1G>T (n.4624+1G>T)
dbSNP
Yg.12813054T>ACA414993009USP9Yc.4609+2T>A (n.4609+2T>A)
n.4621+2T>A
c.4375+2T>A (n.4375+2T>A)
c.4624+2T>A (n.4624+2T>A)
Yg.12813054T>CCA414993014USP9Yc.4609+2T>C (n.4609+2T>C)
n.4621+2T>C
c.4375+2T>C (n.4375+2T>C)
c.4624+2T>C (n.4624+2T>C)
Yg.12813054T>GCA414993011USP9Yc.4609+2T>G (n.4609+2T>G)
n.4621+2T>G
c.4375+2T>G (n.4375+2T>G)
c.4624+2T>G (n.4624+2T>G)
Yg.12813055G>ACA2579747985USP9Yc.4609+3G>A (n.4609+3G>A)
n.4621+3G>A
c.4375+3G>A (n.4375+3G>A)
c.4624+3G>A (n.4624+3G>A)
Yg.12813058T=CA2470559358USP9Yc.4609+6T= (n.4609+6T=)
n.4621+6T=
c.4375+6T= (n.4375+6T=)
c.4624+6T= (n.4624+6T=)
Yg.12813058_12813059insTAGAAAAAGACCA10573337USP9Yc.4609+6_4609+7insTAGAAAAAGAC (n.4609+6_4609+7insTAGAAAAAGAC)
n.4621+6_4621+7insTAGAAAAAGAC
c.4375+6_4375+7insTAGAAAAAGAC (n.4375+6_4375+7insTAGAAAAAGAC)
c.4624+6_4624+7insTAGAAAAAGAC (n.4624+6_4624+7insTAGAAAAAGAC)
dbSNP ExAC
Yg.12813061T=CA2470559359USP9Yc.4609+9T= (n.4609+9T=)
n.4621+9T=
c.4375+9T= (n.4375+9T=)
c.4624+9T= (n.4624+9T=)
Yg.12813061_12813062insACATGCA10573338USP9Yc.4609+9_4609+10insACATG (n.4609+9_4609+10insACATG)
n.4621+9_4621+10insACATG
c.4375+9_4375+10insACATG (n.4375+9_4375+10insACATG)
c.4624+9_4624+10insACATG (n.4624+9_4624+10insACATG)
dbSNP ExAC
Yg.12813063T=CA2470559360USP9Yc.4609+11T= (n.4609+11T=)
n.4621+11T=
c.4375+11T= (n.4375+11T=)
c.4624+11T= (n.4624+11T=)
Yg.12813065_12813066dupCA10573339USP9Yc.4609+13_4609+14dup (n.4609+13_4609+14dup)
n.4621+13_4621+14dup
c.4375+13_4375+14dup (n.4375+13_4375+14dup)
c.4624+13_4624+14dup (n.4624+13_4624+14dup)
dbSNP ExAC gnomAD v2
Yg.12813069A=CA2470559361USP9Yc.4609+17A= (n.4609+17A=)
n.4621+17A=
c.4375+17A= (n.4375+17A=)
c.4624+17A= (n.4624+17A=)
Yg.12813069A>GCA10573340USP9Yc.4609+17A>G (n.4609+17A>G)
n.4621+17A>G
c.4375+17A>G (n.4375+17A>G)
c.4624+17A>G (n.4624+17A>G)
dbSNP ExAC gnomAD v2
Yg.12813071A>GCA2824886462USP9Yc.4609+19A>G (n.4609+19A>G)
n.4621+19A>G
c.4375+19A>G (n.4375+19A>G)
c.4624+19A>G (n.4624+19A>G)
Yg.12813082G>CCA10573341USP9Yc.4609+30G>C (n.4609+30G>C)
n.4621+30G>C
c.4375+30G>C (n.4375+30G>C)
c.4624+30G>C (n.4624+30G>C)
dbSNP ExAC gnomAD v2
Yg.12813082G=CA2470559362USP9Yc.4609+30G= (n.4609+30G=)
n.4621+30G=
c.4375+30G= (n.4375+30G=)
c.4624+30G= (n.4624+30G=)
Yg.12813084T>ACA2579747986USP9Yc.4609+32T>A (n.4609+32T>A)
n.4621+32T>A
c.4375+32T>A (n.4375+32T>A)
c.4624+32T>A (n.4624+32T>A)
Yg.12813085C>TCA2572667538USP9Yc.4609+33C>T (n.4609+33C>T)
n.4621+33C>T
c.4375+33C>T (n.4375+33C>T)
c.4624+33C>T (n.4624+33C>T)
Yg.12813088T>CCA10573342USP9Yc.4609+36T>C (n.4609+36T>C)
n.4621+36T>C
c.4375+36T>C (n.4375+36T>C)
c.4624+36T>C (n.4624+36T>C)
dbSNP ExAC gnomAD v2
Yg.12813088T=CA2470559363USP9Yc.4609+36T= (n.4609+36T=)
n.4621+36T=
c.4375+36T= (n.4375+36T=)
c.4624+36T= (n.4624+36T=)
Yg.12813092A=CA2470559364USP9Yc.4609+40A= (n.4609+40A=)
n.4621+40A=
c.4375+40A= (n.4375+40A=)
c.4624+40A= (n.4624+40A=)
Yg.12813092A>CCA337720546USP9Yc.4609+40A>C (n.4609+40A>C)
n.4621+40A>C
c.4375+40A>C (n.4375+40A>C)
c.4624+40A>C (n.4624+40A>C)
dbSNP
Yg.12813099C>ACA2571588552USP9Yc.4609+47C>A (n.4609+47C>A)
n.4621+47C>A
c.4375+47C>A (n.4375+47C>A)
c.4624+47C>A (n.4624+47C>A)
Yg.12813102T>ACA2579747987USP9Yc.4609+50T>A (n.4609+50T>A)
n.4621+50T>A
c.4375+50T>A (n.4375+50T>A)
c.4624+50T>A (n.4624+50T>A)
Yg.12813103G>ACA10573343USP9Yc.4609+51G>A (n.4609+51G>A)
n.4621+51G>A
c.4375+51G>A (n.4375+51G>A)
c.4624+51G>A (n.4624+51G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12813103G=CA2470559365USP9Yc.4609+51G= (n.4609+51G=)
n.4621+51G=
c.4375+51G= (n.4375+51G=)
c.4624+51G= (n.4624+51G=)
Yg.12813108dupCA2766241863USP9Yc.4609+56dup (n.4609+56dup)
n.4621+56dup
c.4375+56dup (n.4375+56dup)
c.4624+56dup (n.4624+56dup)
Yg.12813106A>GCA2500664757USP9Yc.4609+54A>G (n.4609+54A>G)
n.4621+54A>G
c.4375+54A>G (n.4375+54A>G)
c.4624+54A>G (n.4624+54A>G)

Number of alleles fetched