Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12833737T>ACA414998818USP9Yc.5071T>A (p.Phe1691Ile)
n.5083T>A
c.4837T>A (p.Phe1613Ile)
c.5086T>A (p.Phe1696Ile)
Yg.12833737T>CCA414998820USP9Yc.5071T>C (p.Phe1691Leu)
n.5083T>C
c.4837T>C (p.Phe1613Leu)
c.5086T>C (p.Phe1696Leu)
Yg.12833737T>GCA414998822USP9Yc.5071T>G (p.Phe1691Val)
n.5083T>G
c.4837T>G (p.Phe1613Val)
c.5086T>G (p.Phe1696Val)
Yg.12833742delCA2579748043USP9Yc.5076del (p.Phe1692LeufsTer8)
n.5088del
c.4842del (p.Phe1614LeufsTer8)
c.5091del (p.Phe1697LeufsTer8)
Yg.12833738T>ACA414998824USP9Yc.5072T>A (p.Phe1691Tyr)
n.5084T>A
c.4838T>A (p.Phe1613Tyr)
c.5087T>A (p.Phe1696Tyr)
Yg.12833738T>CCA414998826USP9Yc.5072T>C (p.Phe1691Ser)
n.5084T>C
c.4838T>C (p.Phe1613Ser)
c.5087T>C (p.Phe1696Ser)
Yg.12833738T>GCA414998828USP9Yc.5072T>G (p.Phe1691Cys)
n.5084T>G
c.4838T>G (p.Phe1613Cys)
c.5087T>G (p.Phe1696Cys)
Yg.12833739T>ACA414998830USP9Yc.5073T>A (p.Phe1691Leu)
n.5085T>A
c.4839T>A (p.Phe1613Leu)
c.5088T>A (p.Phe1696Leu)
Yg.12833739T>CCA519901604USP9Yc.5073T>C (p.Phe1691=)
n.5085T>C
c.4839T>C (p.Phe1613=)
c.5088T>C (p.Phe1696=)
Yg.12833739T>GCA414998832USP9Yc.5073T>G (p.Phe1691Leu)
n.5085T>G
c.4839T>G (p.Phe1613Leu)
c.5088T>G (p.Phe1696Leu)
Yg.12833740T>ACA414998834USP9Yc.5074T>A (p.Phe1692Ile)
n.5086T>A
c.4840T>A (p.Phe1614Ile)
c.5089T>A (p.Phe1697Ile)
Yg.12833740T>CCA414998836USP9Yc.5074T>C (p.Phe1692Leu)
n.5086T>C
c.4840T>C (p.Phe1614Leu)
c.5089T>C (p.Phe1697Leu)
Yg.12833740T>GCA414998838USP9Yc.5074T>G (p.Phe1692Val)
n.5086T>G
c.4840T>G (p.Phe1614Val)
c.5089T>G (p.Phe1697Val)
Yg.12833741T>ACA414998844USP9Yc.5075T>A (p.Phe1692Tyr)
n.5087T>A
c.4841T>A (p.Phe1614Tyr)
c.5090T>A (p.Phe1697Tyr)
Yg.12833741T>CCA414998840USP9Yc.5075T>C (p.Phe1692Ser)
n.5087T>C
c.4841T>C (p.Phe1614Ser)
c.5090T>C (p.Phe1697Ser)
Yg.12833741T>GCA414998842USP9Yc.5075T>G (p.Phe1692Cys)
n.5087T>G
c.4841T>G (p.Phe1614Cys)
c.5090T>G (p.Phe1697Cys)
Yg.12833742T>ACA414998846USP9Yc.5076T>A (p.Phe1692Leu)
n.5088T>A
c.4842T>A (p.Phe1614Leu)
c.5091T>A (p.Phe1697Leu)
Yg.12833742T>CCA519901617USP9Yc.5076T>C (p.Phe1692=)
n.5088T>C
c.4842T>C (p.Phe1614=)
c.5091T>C (p.Phe1697=)
Yg.12833742T>GCA414998848USP9Yc.5076T>G (p.Phe1692Leu)
n.5088T>G
c.4842T>G (p.Phe1614Leu)
c.5091T>G (p.Phe1697Leu)
Yg.12833743A>CCA414998850USP9Yc.5077A>C (p.Asn1693His)
n.5089A>C
c.4843A>C (p.Asn1615His)
c.5092A>C (p.Asn1698His)
Yg.12833743A>GCA414998853USP9Yc.5077A>G (p.Asn1693Asp)
n.5089A>G
c.4843A>G (p.Asn1615Asp)
c.5092A>G (p.Asn1698Asp)
Yg.12833743A>TCA414998854USP9Yc.5077A>T (p.Asn1693Tyr)
n.5089A>T
c.4843A>T (p.Asn1615Tyr)
c.5092A>T (p.Asn1698Tyr)
Yg.12833744A>CCA414998856USP9Yc.5078A>C (p.Asn1693Thr)
n.5090A>C
c.4844A>C (p.Asn1615Thr)
c.5093A>C (p.Asn1698Thr)
Yg.12833744A>GCA414998858USP9Yc.5078A>G (p.Asn1693Ser)
n.5090A>G
c.4844A>G (p.Asn1615Ser)
c.5093A>G (p.Asn1698Ser)
Yg.12833744A>TCA414998860USP9Yc.5078A>T (p.Asn1693Ile)
n.5090A>T
c.4844A>T (p.Asn1615Ile)
c.5093A>T (p.Asn1698Ile)
Yg.12833745T>ACA414998862USP9Yc.5079T>A (p.Asn1693Lys)
n.5091T>A
c.4845T>A (p.Asn1615Lys)
c.5094T>A (p.Asn1698Lys)
Yg.12833745T>CCA519901628USP9Yc.5079T>C (p.Asn1693=)
n.5091T>C
c.4845T>C (p.Asn1615=)
c.5094T>C (p.Asn1698=)
Yg.12833745T>GCA414998863USP9Yc.5079T>G (p.Asn1693Lys)
n.5091T>G
c.4845T>G (p.Asn1615Lys)
c.5094T>G (p.Asn1698Lys)
Yg.12833746T>ACA414998868USP9Yc.5080T>A (p.Ser1694Thr)
n.5092T>A
c.4846T>A (p.Ser1616Thr)
c.5095T>A (p.Ser1699Thr)
Yg.12833746T>CCA414998870USP9Yc.5080T>C (p.Ser1694Pro)
n.5092T>C
c.4846T>C (p.Ser1616Pro)
c.5095T>C (p.Ser1699Pro)
Yg.12833746T>GCA414998866USP9Yc.5080T>G (p.Ser1694Ala)
n.5092T>G
c.4846T>G (p.Ser1616Ala)
c.5095T>G (p.Ser1699Ala)
Yg.12833747C>ACA414998872USP9Yc.5081C>A (p.Ser1694Tyr)
n.5093C>A
c.4847C>A (p.Ser1616Tyr)
c.5096C>A (p.Ser1699Tyr)
Yg.12833747C>GCA414998874USP9Yc.5081C>G (p.Ser1694Cys)
n.5093C>G
c.4847C>G (p.Ser1616Cys)
c.5096C>G (p.Ser1699Cys)
Yg.12833747C>TCA414998876USP9Yc.5081C>T (p.Ser1694Phe)
n.5093C>T
c.4847C>T (p.Ser1616Phe)
c.5096C>T (p.Ser1699Phe)
Yg.12833748T>ACA519901639USP9Yc.5082T>A (p.Ser1694=)
n.5094T>A
c.4848T>A (p.Ser1616=)
c.5097T>A (p.Ser1699=)
Yg.12833748T>CCA519901640USP9Yc.5082T>C (p.Ser1694=)
n.5094T>C
c.4848T>C (p.Ser1616=)
c.5097T>C (p.Ser1699=)
Yg.12833748T>GCA519901643USP9Yc.5082T>G (p.Ser1694=)
n.5094T>G
c.4848T>G (p.Ser1616=)
c.5097T>G (p.Ser1699=)
Yg.12833749T>ACA414998878USP9Yc.5083T>A (p.Leu1695Met)
n.5095T>A
c.4849T>A (p.Leu1617Met)
c.5098T>A (p.Leu1700Met)
Yg.12833749T>CCA519901646USP9Yc.5083T>C (p.Leu1695=)
n.5095T>C
c.4849T>C (p.Leu1617=)
c.5098T>C (p.Leu1700=)
Yg.12833749T>GCA414998880USP9Yc.5083T>G (p.Leu1695Val)
n.5095T>G
c.4849T>G (p.Leu1617Val)
c.5098T>G (p.Leu1700Val)
Yg.12833750T>ACA414998886USP9Yc.5084T>A (p.Leu1695Ter)
n.5096T>A
c.4850T>A (p.Leu1617Ter)
c.5099T>A (p.Leu1700Ter)
Yg.12833750T>CCA414998882USP9Yc.5084T>C (p.Leu1695Ser)
n.5096T>C
c.4850T>C (p.Leu1617Ser)
c.5099T>C (p.Leu1700Ser)
Yg.12833750T>GCA414998884USP9Yc.5084T>G (p.Leu1695Trp)
n.5096T>G
c.4850T>G (p.Leu1617Trp)
c.5099T>G (p.Leu1700Trp)
Yg.12833751G>ACA519901652USP9Yc.5085G>A (p.Leu1695=)
n.5097G>A
c.4851G>A (p.Leu1617=)
c.5100G>A (p.Leu1700=)
Yg.12833751G>CCA414998888USP9Yc.5085G>C (p.Leu1695Phe)
n.5097G>C
c.4851G>C (p.Leu1617Phe)
c.5100G>C (p.Leu1700Phe)
Yg.12833751G>TCA414998890USP9Yc.5085G>T (p.Leu1695Phe)
n.5097G>T
c.4851G>T (p.Leu1617Phe)
c.5100G>T (p.Leu1700Phe)
Yg.12833752G>ACA10573380USP9Yc.5086G>A (p.Val1696Met)
n.5098G>A
c.4852G>A (p.Val1618Met)
c.5101G>A (p.Val1701Met)
dbSNP ExAC gnomAD v2
Yg.12833752G>CCA414998893USP9Yc.5086G>C (p.Val1696Leu)
n.5098G>C
c.4852G>C (p.Val1618Leu)
c.5101G>C (p.Val1701Leu)
Yg.12833752G=CA2470560450USP9Yc.5086G= (p.Val1696=)
n.5098G=
c.4852G= (p.Val1618=)
c.5101G= (p.Val1701=)
Yg.12833752G>TCA414998895USP9Yc.5086G>T (p.Val1696Leu)
n.5098G>T
c.4852G>T (p.Val1618Leu)
c.5101G>T (p.Val1701Leu)
Yg.12833753T>ACA414998897USP9Yc.5087T>A (p.Val1696Glu)
n.5099T>A
c.4853T>A (p.Val1618Glu)
c.5102T>A (p.Val1701Glu)
Yg.12833753T>CCA414998901USP9Yc.5087T>C (p.Val1696Ala)
n.5099T>C
c.4853T>C (p.Val1618Ala)
c.5102T>C (p.Val1701Ala)
Yg.12833753T>GCA414998899USP9Yc.5087T>G (p.Val1696Gly)
n.5099T>G
c.4853T>G (p.Val1618Gly)
c.5102T>G (p.Val1701Gly)
Yg.12833754G>ACA519901666USP9Yc.5088G>A (p.Val1696=)
n.5100G>A
c.4854G>A (p.Val1618=)
c.5103G>A (p.Val1701=)
Yg.12833754G>CCA519901667USP9Yc.5088G>C (p.Val1696=)
n.5100G>C
c.4854G>C (p.Val1618=)
c.5103G>C (p.Val1701=)
Yg.12833754G>TCA519901669USP9Yc.5088G>T (p.Val1696=)
n.5100G>T
c.4854G>T (p.Val1618=)
c.5103G>T (p.Val1701=)
Yg.12833755G>ACA414998903USP9Yc.5089G>A (p.Asp1697Asn)
n.5101G>A
c.4855G>A (p.Asp1619Asn)
c.5104G>A (p.Asp1702Asn)
Yg.12833755G>CCA414998905USP9Yc.5089G>C (p.Asp1697His)
n.5101G>C
c.4855G>C (p.Asp1619His)
c.5104G>C (p.Asp1702His)
Yg.12833755G>TCA414998906USP9Yc.5089G>T (p.Asp1697Tyr)
n.5101G>T
c.4855G>T (p.Asp1619Tyr)
c.5104G>T (p.Asp1702Tyr)
Yg.12833756A>CCA414998909USP9Yc.5090A>C (p.Asp1697Ala)
n.5102A>C
c.4856A>C (p.Asp1619Ala)
c.5105A>C (p.Asp1702Ala)
Yg.12833756A>GCA414998910USP9Yc.5090A>G (p.Asp1697Gly)
n.5102A>G
c.4856A>G (p.Asp1619Gly)
c.5105A>G (p.Asp1702Gly)
Yg.12833756A>TCA414998912USP9Yc.5090A>T (p.Asp1697Val)
n.5102A>T
c.4856A>T (p.Asp1619Val)
c.5105A>T (p.Asp1702Val)
Yg.12833757T>ACA414998914USP9Yc.5091T>A (p.Asp1697Glu)
n.5103T>A
c.4857T>A (p.Asp1619Glu)
c.5106T>A (p.Asp1702Glu)
Yg.12833757T>CCA519901679USP9Yc.5091T>C (p.Asp1697=)
n.5103T>C
c.4857T>C (p.Asp1619=)
c.5106T>C (p.Asp1702=)
Yg.12833757T>GCA414998916USP9Yc.5091T>G (p.Asp1697Glu)
n.5103T>G
c.4857T>G (p.Asp1619Glu)
c.5106T>G (p.Asp1702Glu)
Yg.12833758A>CCA414998919USP9Yc.5092A>C (p.Ser1698Arg)
n.5104A>C
c.4858A>C (p.Ser1620Arg)
c.5107A>C (p.Ser1703Arg)
Yg.12833758A>GCA414998920USP9Yc.5092A>G (p.Ser1698Gly)
n.5104A>G
c.4858A>G (p.Ser1620Gly)
c.5107A>G (p.Ser1703Gly)
Yg.12833758A>TCA414998922USP9Yc.5092A>T (p.Ser1698Cys)
n.5104A>T
c.4858A>T (p.Ser1620Cys)
c.5107A>T (p.Ser1703Cys)
Yg.12833759G>ACA10573381USP9Yc.5093G>A (p.Ser1698Asn)
n.5105G>A
c.4859G>A (p.Ser1620Asn)
c.5108G>A (p.Ser1703Asn)
dbSNP ExAC
Yg.12833759G>CCA414998928USP9Yc.5093G>C (p.Ser1698Thr)
n.5105G>C
c.4859G>C (p.Ser1620Thr)
c.5108G>C (p.Ser1703Thr)
Yg.12833759G=CA2470560451USP9Yc.5093G= (p.Ser1698=)
n.5105G=
c.4859G= (p.Ser1620=)
c.5108G= (p.Ser1703=)
Yg.12833759G>TCA414998926USP9Yc.5093G>T (p.Ser1698Ile)
n.5105G>T
c.4859G>T (p.Ser1620Ile)
c.5108G>T (p.Ser1703Ile)
Yg.12833760T>ACA414998931USP9Yc.5094T>A (p.Ser1698Arg)
n.5106T>A
c.4860T>A (p.Ser1620Arg)
c.5109T>A (p.Ser1703Arg)
Yg.12833760T>CCA519901691USP9Yc.5094T>C (p.Ser1698=)
n.5106T>C
c.4860T>C (p.Ser1620=)
c.5109T>C (p.Ser1703=)
Yg.12833760T>GCA414998933USP9Yc.5094T>G (p.Ser1698Arg)
n.5106T>G
c.4860T>G (p.Ser1620Arg)
c.5109T>G (p.Ser1703Arg)
Yg.12833761T>ACA414998935USP9Yc.5095T>A (p.Leu1699Ile)
n.5107T>A
c.4861T>A (p.Leu1621Ile)
c.5110T>A (p.Leu1704Ile)
Yg.12833761T>CCA519901697USP9Yc.5095T>C (p.Leu1699=)
n.5107T>C
c.4861T>C (p.Leu1621=)
c.5110T>C (p.Leu1704=)
Yg.12833761T>GCA414998937USP9Yc.5095T>G (p.Leu1699Val)
n.5107T>G
c.4861T>G (p.Leu1621Val)
c.5110T>G (p.Leu1704Val)
Yg.12833762T>ACA414998939USP9Yc.5096T>A (p.Leu1699Ter)
n.5108T>A
c.4862T>A (p.Leu1621Ter)
c.5111T>A (p.Leu1704Ter)
Yg.12833762T>CCA414998940USP9Yc.5096T>C (p.Leu1699Ser)
n.5108T>C
c.4862T>C (p.Leu1621Ser)
c.5111T>C (p.Leu1704Ser)
Yg.12833762T>GCA414998943USP9Yc.5096T>G (p.Leu1699Ter)
n.5108T>G
c.4862T>G (p.Leu1621Ter)
c.5111T>G (p.Leu1704Ter)
Yg.12833763A>CCA414998945USP9Yc.5097A>C (p.Leu1699Phe)
n.5109A>C
c.4863A>C (p.Leu1621Phe)
c.5112A>C (p.Leu1704Phe)
Yg.12833763A>GCA519901705USP9Yc.5097A>G (p.Leu1699=)
n.5109A>G
c.4863A>G (p.Leu1621=)
c.5112A>G (p.Leu1704=)
Yg.12833763A>TCA414998946USP9Yc.5097A>T (p.Leu1699Phe)
n.5109A>T
c.4863A>T (p.Leu1621Phe)
c.5112A>T (p.Leu1704Phe)
Yg.12833764G>ACA414998948USP9Yc.5098G>A (p.Asp1700Asn)
n.5110G>A
c.4864G>A (p.Asp1622Asn)
c.5113G>A (p.Asp1705Asn)
Yg.12833764G>CCA414998950USP9Yc.5098G>C (p.Asp1700His)
n.5110G>C
c.4864G>C (p.Asp1622His)
c.5113G>C (p.Asp1705His)
Yg.12833764G>TCA414998951USP9Yc.5098G>T (p.Asp1700Tyr)
n.5110G>T
c.4864G>T (p.Asp1622Tyr)
c.5113G>T (p.Asp1705Tyr)
Yg.12833765A>CCA414998957USP9Yc.5099A>C (p.Asp1700Ala)
n.5111A>C
c.4865A>C (p.Asp1622Ala)
c.5114A>C (p.Asp1705Ala)
Yg.12833765A>GCA414998954USP9Yc.5099A>G (p.Asp1700Gly)
n.5111A>G
c.4865A>G (p.Asp1622Gly)
c.5114A>G (p.Asp1705Gly)
Yg.12833765A>TCA414998956USP9Yc.5099A>T (p.Asp1700Val)
n.5111A>T
c.4865A>T (p.Asp1622Val)
c.5114A>T (p.Asp1705Val)
Yg.12833766T>ACA414998960USP9Yc.5100T>A (p.Asp1700Glu)
n.5112T>A
c.4866T>A (p.Asp1622Glu)
c.5115T>A (p.Asp1705Glu)
Yg.12833766T>CCA519901718USP9Yc.5100T>C (p.Asp1700=)
n.5112T>C
c.4866T>C (p.Asp1622=)
c.5115T>C (p.Asp1705=)
Yg.12833766T>GCA414998961USP9Yc.5100T>G (p.Asp1700Glu)
n.5112T>G
c.4866T>G (p.Asp1622Glu)
c.5115T>G (p.Asp1705Glu)
Yg.12833767G>ACA414998963USP9Yc.5101G>A (p.Glu1701Lys)
n.5113G>A
c.4867G>A (p.Glu1623Lys)
c.5116G>A (p.Glu1706Lys)
Yg.12833767G>CCA414998964USP9Yc.5101G>C (p.Glu1701Gln)
n.5113G>C
c.4867G>C (p.Glu1623Gln)
c.5116G>C (p.Glu1706Gln)
Yg.12833767G>TCA414998965USP9Yc.5101G>T (p.Glu1701Ter)
n.5113G>T
c.4867G>T (p.Glu1623Ter)
c.5116G>T (p.Glu1706Ter)
Yg.12833768A>CCA414998967USP9Yc.5102A>C (p.Glu1701Ala)
n.5114A>C
c.4868A>C (p.Glu1623Ala)
c.5117A>C (p.Glu1706Ala)
Yg.12833768A>GCA414998969USP9Yc.5102A>G (p.Glu1701Gly)
n.5114A>G
c.4868A>G (p.Glu1623Gly)
c.5117A>G (p.Glu1706Gly)
Yg.12833768A>TCA414998971USP9Yc.5102A>T (p.Glu1701Val)
n.5114A>T
c.4868A>T (p.Glu1623Val)
c.5117A>T (p.Glu1706Val)
Yg.12833769A>CCA414998973USP9Yc.5103A>C (p.Glu1701Asp)
n.5115A>C
c.4869A>C (p.Glu1623Asp)
c.5118A>C (p.Glu1706Asp)
Yg.12833769A>GCA519901729USP9Yc.5103A>G (p.Glu1701=)
n.5115A>G
c.4869A>G (p.Glu1623=)
c.5118A>G (p.Glu1706=)
Yg.12833769A>TCA414998975USP9Yc.5103A>T (p.Glu1701Asp)
n.5115A>T
c.4869A>T (p.Glu1623Asp)
c.5118A>T (p.Glu1706Asp)
Yg.12833770G>ACA414998982USP9Yc.5104G>A (p.Ala1702Thr)
n.5116G>A
c.4870G>A (p.Ala1624Thr)
c.5119G>A (p.Ala1707Thr)
Yg.12833770G>CCA414998979USP9Yc.5104G>C (p.Ala1702Pro)
n.5116G>C
c.4870G>C (p.Ala1624Pro)
c.5119G>C (p.Ala1707Pro)
Yg.12833770G>TCA414998977USP9Yc.5104G>T (p.Ala1702Ser)
n.5116G>T
c.4870G>T (p.Ala1624Ser)
c.5119G>T (p.Ala1707Ser)
Yg.12833771C>ACA414998985USP9Yc.5105C>A (p.Ala1702Asp)
n.5117C>A
c.4871C>A (p.Ala1624Asp)
c.5120C>A (p.Ala1707Asp)
Yg.12833771C>GCA414998986USP9Yc.5105C>G (p.Ala1702Gly)
n.5117C>G
c.4871C>G (p.Ala1624Gly)
c.5120C>G (p.Ala1707Gly)
Yg.12833771C>TCA414998988USP9Yc.5105C>T (p.Ala1702Val)
n.5117C>T
c.4871C>T (p.Ala1624Val)
c.5120C>T (p.Ala1707Val)
Yg.12833772T>ACA10573382USP9Yc.5106T>A (p.Ala1702=)
n.5118T>A
c.4872T>A (p.Ala1624=)
c.5121T>A (p.Ala1707=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12833772T>CCA519901737USP9Yc.5106T>C (p.Ala1702=)
n.5118T>C
c.4872T>C (p.Ala1624=)
c.5121T>C (p.Ala1707=)
Yg.12833772T>GCA519901740USP9Yc.5106T>G (p.Ala1702=)
n.5118T>G
c.4872T>G (p.Ala1624=)
c.5121T>G (p.Ala1707=)
Yg.12833772T=CA2470560452USP9Yc.5106T= (p.Ala1702=)
n.5118T=
c.4872T= (p.Ala1624=)
c.5121T= (p.Ala1707=)
Yg.12833773T>ACA414998989USP9Yc.5107T>A (p.Leu1703Ile)
n.5119T>A
c.4873T>A (p.Leu1625Ile)
c.5122T>A (p.Leu1708Ile)
Yg.12833773T>CCA519901744USP9Yc.5107T>C (p.Leu1703=)
n.5119T>C
c.4873T>C (p.Leu1625=)
c.5122T>C (p.Leu1708=)
Yg.12833773T>GCA414998990USP9Yc.5107T>G (p.Leu1703Val)
n.5119T>G
c.4873T>G (p.Leu1625Val)
c.5122T>G (p.Leu1708Val)
Yg.12833774T>ACA414998993USP9Yc.5108T>A (p.Leu1703Ter)
n.5120T>A
c.4874T>A (p.Leu1625Ter)
c.5123T>A (p.Leu1708Ter)
Yg.12833774T>CCA414998991USP9Yc.5108T>C (p.Leu1703Ser)
n.5120T>C
c.4874T>C (p.Leu1625Ser)
c.5123T>C (p.Leu1708Ser)
Yg.12833774T>GCA414998992USP9Yc.5108T>G (p.Leu1703Ter)
n.5120T>G
c.4874T>G (p.Leu1625Ter)
c.5123T>G (p.Leu1708Ter)
Yg.12833775A>CCA414998994USP9Yc.5109A>C (p.Leu1703Phe)
n.5121A>C
c.4875A>C (p.Leu1625Phe)
c.5124A>C (p.Leu1708Phe)
Yg.12833775A>GCA519901752USP9Yc.5109A>G (p.Leu1703=)
n.5121A>G
c.4875A>G (p.Leu1625=)
c.5124A>G (p.Leu1708=)
Yg.12833775A>TCA414998995USP9Yc.5109A>T (p.Leu1703Phe)
n.5121A>T
c.4875A>T (p.Leu1625Phe)
c.5124A>T (p.Leu1708Phe)
Yg.12833778delCA2766242006USP9Yc.5112del (p.Ala1705LeufsTer2)
n.5124del
c.4878del (p.Ala1627LeufsTer2)
c.5127del (p.Ala1710LeufsTer2)
Yg.12833776A>CCA414998996USP9Yc.5110A>C (p.Lys1704Gln)
n.5122A>C
c.4876A>C (p.Lys1626Gln)
c.5125A>C (p.Lys1709Gln)
Yg.12833776A>GCA414998997USP9Yc.5110A>G (p.Lys1704Glu)
n.5122A>G
c.4876A>G (p.Lys1626Glu)
c.5125A>G (p.Lys1709Glu)
Yg.12833776A>TCA414998998USP9Yc.5110A>T (p.Lys1704Ter)
n.5122A>T
c.4876A>T (p.Lys1626Ter)
c.5125A>T (p.Lys1709Ter)
Yg.12833777A>CCA414998999USP9Yc.5111A>C (p.Lys1704Thr)
n.5123A>C
c.4877A>C (p.Lys1626Thr)
c.5126A>C (p.Lys1709Thr)
Yg.12833777A>GCA414999001USP9Yc.5111A>G (p.Lys1704Arg)
n.5123A>G
c.4877A>G (p.Lys1626Arg)
c.5126A>G (p.Lys1709Arg)
Yg.12833777A>TCA414999000USP9Yc.5111A>T (p.Lys1704Ile)
n.5123A>T
c.4877A>T (p.Lys1626Ile)
c.5126A>T (p.Lys1709Ile)
Yg.12833778A>CCA414999002USP9Yc.5112A>C (p.Lys1704Asn)
n.5124A>C
c.4878A>C (p.Lys1626Asn)
c.5127A>C (p.Lys1709Asn)
Yg.12833778A>GCA519901763USP9Yc.5112A>G (p.Lys1704=)
n.5124A>G
c.4878A>G (p.Lys1626=)
c.5127A>G (p.Lys1709=)
Yg.12833778A>TCA414999003USP9Yc.5112A>T (p.Lys1704Asn)
n.5124A>T
c.4878A>T (p.Lys1626Asn)
c.5127A>T (p.Lys1709Asn)
Yg.12833779G>ACA414999005USP9Yc.5113G>A (p.Ala1705Thr)
n.5125G>A
c.4879G>A (p.Ala1627Thr)
c.5128G>A (p.Ala1710Thr)
Yg.12833779G>CCA414999007USP9Yc.5113G>C (p.Ala1705Pro)
n.5125G>C
c.4879G>C (p.Ala1627Pro)
c.5128G>C (p.Ala1710Pro)
Yg.12833779G=CA2470560453USP9Yc.5113G= (p.Ala1705=)
n.5125G=
c.4879G= (p.Ala1627=)
c.5128G= (p.Ala1710=)
Yg.12833779G>TCA337720911USP9Yc.5113G>T (p.Ala1705Ser)
n.5125G>T
c.4879G>T (p.Ala1627Ser)
c.5128G>T (p.Ala1710Ser)
dbSNP
Yg.12833780C>ACA414999009USP9Yc.5114C>A (p.Ala1705Asp)
n.5126C>A
c.4880C>A (p.Ala1627Asp)
c.5129C>A (p.Ala1710Asp)
Yg.12833780C>GCA414999010USP9Yc.5114C>G (p.Ala1705Gly)
n.5126C>G
c.4880C>G (p.Ala1627Gly)
c.5129C>G (p.Ala1710Gly)
Yg.12833780C>TCA414999011USP9Yc.5114C>T (p.Ala1705Val)
n.5126C>T
c.4880C>T (p.Ala1627Val)
c.5129C>T (p.Ala1710Val)
Yg.12833781T>ACA519901772USP9Yc.5115T>A (p.Ala1705=)
n.5127T>A
c.4881T>A (p.Ala1627=)
c.5130T>A (p.Ala1710=)
Yg.12833781T>CCA519901773USP9Yc.5115T>C (p.Ala1705=)
n.5127T>C
c.4881T>C (p.Ala1627=)
c.5130T>C (p.Ala1710=)
Yg.12833781T>GCA519901776USP9Yc.5115T>G (p.Ala1705=)
n.5127T>G
c.4881T>G (p.Ala1627=)
c.5130T>G (p.Ala1710=)
Yg.12833782T>ACA414999014USP9Yc.5116T>A (p.Leu1706Ile)
n.5128T>A
c.4882T>A (p.Leu1628Ile)
c.5131T>A (p.Leu1711Ile)
Yg.12833782T>CCA519901781USP9Yc.5116T>C (p.Leu1706=)
n.5128T>C
c.4882T>C (p.Leu1628=)
c.5131T>C (p.Leu1711=)
Yg.12833782T>GCA414999015USP9Yc.5116T>G (p.Leu1706Val)
n.5128T>G
c.4882T>G (p.Leu1628Val)
c.5131T>G (p.Leu1711Val)
Yg.12833783T>ACA414999020USP9Yc.5117T>A (p.Leu1706Ter)
n.5129T>A
c.4883T>A (p.Leu1628Ter)
c.5132T>A (p.Leu1711Ter)
Yg.12833783T>CCA414999017USP9Yc.5117T>C (p.Leu1706Ser)
n.5129T>C
c.4883T>C (p.Leu1628Ser)
c.5132T>C (p.Leu1711Ser)
Yg.12833783T>GCA414999018USP9Yc.5117T>G (p.Leu1706Ter)
n.5129T>G
c.4883T>G (p.Leu1628Ter)
c.5132T>G (p.Leu1711Ter)
Yg.12833784A>CCA414999022USP9Yc.5118A>C (p.Leu1706Phe)
n.5130A>C
c.4884A>C (p.Leu1628Phe)
c.5133A>C (p.Leu1711Phe)
Yg.12833784A>GCA519901790USP9Yc.5118A>G (p.Leu1706=)
n.5130A>G
c.4884A>G (p.Leu1628=)
c.5133A>G (p.Leu1711=)
Yg.12833784A>TCA414999023USP9Yc.5118A>T (p.Leu1706Phe)
n.5130A>T
c.4884A>T (p.Leu1628Phe)
c.5133A>T (p.Leu1711Phe)
Yg.12833785G>ACA414999025USP9Yc.5119G>A (p.Gly1707Arg)
n.5131G>A
c.4885G>A (p.Gly1629Arg)
c.5134G>A (p.Gly1712Arg)
Yg.12833785G>CCA414999027USP9Yc.5119G>C (p.Gly1707Arg)
n.5131G>C
c.4885G>C (p.Gly1629Arg)
c.5134G>C (p.Gly1712Arg)
Yg.12833785G>TCA414999029USP9Yc.5119G>T (p.Gly1707Ter)
n.5131G>T
c.4885G>T (p.Gly1629Ter)
c.5134G>T (p.Gly1712Ter)
Yg.12833786G>ACA414999030USP9Yc.5120G>A (p.Gly1707Glu)
n.5132G>A
c.4886G>A (p.Gly1629Glu)
c.5135G>A (p.Gly1712Glu)
Yg.12833786G>CCA414999031USP9Yc.5120G>C (p.Gly1707Ala)
n.5132G>C
c.4886G>C (p.Gly1629Ala)
c.5135G>C (p.Gly1712Ala)
Yg.12833786G>TCA414999033USP9Yc.5120G>T (p.Gly1707Val)
n.5132G>T
c.4886G>T (p.Gly1629Val)
c.5135G>T (p.Gly1712Val)
Yg.12833787A>CCA519901801USP9Yc.5121A>C (p.Gly1707=)
n.5133A>C
c.4887A>C (p.Gly1629=)
c.5136A>C (p.Gly1712=)
Yg.12833787A>GCA519901803USP9Yc.5121A>G (p.Gly1707=)
n.5133A>G
c.4887A>G (p.Gly1629=)
c.5136A>G (p.Gly1712=)
Yg.12833787A>TCA519901805USP9Yc.5121A>T (p.Gly1707=)
n.5133A>T
c.4887A>T (p.Gly1629=)
c.5136A>T (p.Gly1712=)
Yg.12833788C>ACA414999035USP9Yc.5122C>A (p.His1708Asn)
n.5134C>A
c.4888C>A (p.His1630Asn)
c.5137C>A (p.His1713Asn)
Yg.12833788C=CA2470560454USP9Yc.5122C= (p.His1708=)
n.5134C=
c.4888C= (p.His1630=)
c.5137C= (p.His1713=)
Yg.12833788C>GCA414999037USP9Yc.5122C>G (p.His1708Asp)
n.5134C>G
c.4888C>G (p.His1630Asp)
c.5137C>G (p.His1713Asp)
Yg.12833788C>TCA414999038USP9Yc.5122C>T (p.His1708Tyr)
n.5134C>T
c.4888C>T (p.His1630Tyr)
c.5137C>T (p.His1713Tyr)
dbSNP gnomAD v2
Yg.12833789A>CCA414999044USP9Yc.5123A>C (p.His1708Pro)
n.5135A>C
c.4889A>C (p.His1630Pro)
c.5138A>C (p.His1713Pro)
Yg.12833789A>GCA414999042USP9Yc.5123A>G (p.His1708Arg)
n.5135A>G
c.4889A>G (p.His1630Arg)
c.5138A>G (p.His1713Arg)
Yg.12833789A>TCA414999040USP9Yc.5123A>T (p.His1708Leu)
n.5135A>T
c.4889A>T (p.His1630Leu)
c.5138A>T (p.His1713Leu)
Yg.12833790C>ACA414999045USP9Yc.5124C>A (p.His1708Gln)
n.5136C>A
c.4890C>A (p.His1630Gln)
c.5139C>A (p.His1713Gln)
Yg.12833790C>GCA414999047USP9Yc.5124C>G (p.His1708Gln)
n.5136C>G
c.4890C>G (p.His1630Gln)
c.5139C>G (p.His1713Gln)
Yg.12833790C>TCA519901815USP9Yc.5124C>T (p.His1708=)
n.5136C>T
c.4890C>T (p.His1630=)
c.5139C>T (p.His1713=)
Yg.12833791C>ACA414999049USP9Yc.5125C>A (p.Pro1709Thr)
n.5137C>A
c.4891C>A (p.Pro1631Thr)
c.5140C>A (p.Pro1714Thr)
Yg.12833791C>GCA414999051USP9Yc.5125C>G (p.Pro1709Ala)
n.5137C>G
c.4891C>G (p.Pro1631Ala)
c.5140C>G (p.Pro1714Ala)
Yg.12833791C>TCA414999052USP9Yc.5125C>T (p.Pro1709Ser)
n.5137C>T
c.4891C>T (p.Pro1631Ser)
c.5140C>T (p.Pro1714Ser)
Yg.12833792C>ACA414999054USP9Yc.5126C>A (p.Pro1709Gln)
n.5138C>A
c.4892C>A (p.Pro1631Gln)
c.5141C>A (p.Pro1714Gln)
Yg.12833792C>GCA414999056USP9Yc.5126C>G (p.Pro1709Arg)
n.5138C>G
c.4892C>G (p.Pro1631Arg)
c.5141C>G (p.Pro1714Arg)
Yg.12833792C>TCA414999057USP9Yc.5126C>T (p.Pro1709Leu)
n.5138C>T
c.4892C>T (p.Pro1631Leu)
c.5141C>T (p.Pro1714Leu)
Yg.12833793G>ACA10573383USP9Yc.5127G>A (p.Pro1709=)
n.5139G>A
c.4893G>A (p.Pro1631=)
c.5142G>A (p.Pro1714=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12833793G>CCA519901826USP9Yc.5127G>C (p.Pro1709=)
n.5139G>C
c.4893G>C (p.Pro1631=)
c.5142G>C (p.Pro1714=)
Yg.12833793G=CA2470560455USP9Yc.5127G= (p.Pro1709=)
n.5139G=
c.4893G= (p.Pro1631=)
c.5142G= (p.Pro1714=)
Yg.12833793G>TCA519901828USP9Yc.5127G>T (p.Pro1709=)
n.5139G>T
c.4893G>T (p.Pro1631=)
c.5142G>T (p.Pro1714=)
Yg.12833794G>ACA414999060USP9Yc.5128G>A (p.Ala1710Thr)
n.5140G>A
c.4894G>A (p.Ala1632Thr)
c.5143G>A (p.Ala1715Thr)
Yg.12833794G>CCA414999062USP9Yc.5128G>C (p.Ala1710Pro)
n.5140G>C
c.4894G>C (p.Ala1632Pro)
c.5143G>C (p.Ala1715Pro)
Yg.12833794G=CA2470560456USP9Yc.5128G= (p.Ala1710=)
n.5140G=
c.4894G= (p.Ala1632=)
c.5143G= (p.Ala1715=)
Yg.12833794G>TCA414999063USP9Yc.5128G>T (p.Ala1710Ser)
n.5140G>T
c.4894G>T (p.Ala1632Ser)
c.5143G>T (p.Ala1715Ser)
dbSNP gnomAD v2
Yg.12833795C>ACA414999065USP9Yc.5129C>A (p.Ala1710Asp)
n.5141C>A
c.4895C>A (p.Ala1632Asp)
c.5144C>A (p.Ala1715Asp)
Yg.12833795C>GCA414999068USP9Yc.5129C>G (p.Ala1710Gly)
n.5141C>G
c.4895C>G (p.Ala1632Gly)
c.5144C>G (p.Ala1715Gly)
Yg.12833795C>TCA414999067USP9Yc.5129C>T (p.Ala1710Val)
n.5141C>T
c.4895C>T (p.Ala1632Val)
c.5144C>T (p.Ala1715Val)
Yg.12833796T>ACA519901837USP9Yc.5130T>A (p.Ala1710=)
n.5142T>A
c.4896T>A (p.Ala1632=)
c.5145T>A (p.Ala1715=)
Yg.12833796T>CCA519901840USP9Yc.5130T>C (p.Ala1710=)
n.5142T>C
c.4896T>C (p.Ala1632=)
c.5145T>C (p.Ala1715=)
Yg.12833796T>GCA519901838USP9Yc.5130T>G (p.Ala1710=)
n.5142T>G
c.4896T>G (p.Ala1632=)
c.5145T>G (p.Ala1715=)
Yg.12833797A>CCA414999070USP9Yc.5131A>C (p.Ile1711Leu)
n.5143A>C
c.4897A>C (p.Ile1633Leu)
c.5146A>C (p.Ile1716Leu)
Yg.12833797A>GCA414999074USP9Yc.5131A>G (p.Ile1711Val)
n.5143A>G
c.4897A>G (p.Ile1633Val)
c.5146A>G (p.Ile1716Val)
Yg.12833797A>TCA414999072USP9Yc.5131A>T (p.Ile1711Leu)
n.5143A>T
c.4897A>T (p.Ile1633Leu)
c.5146A>T (p.Ile1716Leu)
Yg.12833798T>ACA414999075USP9Yc.5132T>A (p.Ile1711Lys)
n.5144T>A
c.4898T>A (p.Ile1633Lys)
c.5147T>A (p.Ile1716Lys)
Yg.12833798T>CCA414999077USP9Yc.5132T>C (p.Ile1711Thr)
n.5144T>C
c.4898T>C (p.Ile1633Thr)
c.5147T>C (p.Ile1716Thr)
Yg.12833798T>GCA414999079USP9Yc.5132T>G (p.Ile1711Arg)
n.5144T>G
c.4898T>G (p.Ile1633Arg)
c.5147T>G (p.Ile1716Arg)
Yg.12833799A=CA2470560457USP9Yc.5133A= (p.Ile1711=)
n.5145A=
c.4899A= (p.Ile1633=)
c.5148A= (p.Ile1716=)
Yg.12833799A>CCA519901847USP9Yc.5133A>C (p.Ile1711=)
n.5145A>C
c.4899A>C (p.Ile1633=)
c.5148A>C (p.Ile1716=)
Yg.12833799A>GCA414999081USP9Yc.5133A>G (p.Ile1711Met)
n.5145A>G
c.4899A>G (p.Ile1633Met)
c.5148A>G (p.Ile1716Met)
dbSNP gnomAD v2
Yg.12833799A>TCA519901850USP9Yc.5133A>T (p.Ile1711=)
n.5145A>T
c.4899A>T (p.Ile1633=)
c.5148A>T (p.Ile1716=)
Yg.12833800C>ACA414999082USP9Yc.5134C>A (p.Leu1712Ile)
n.5146C>A
c.4900C>A (p.Leu1634Ile)
c.5149C>A (p.Leu1717Ile)
Yg.12833800C>GCA414999084USP9Yc.5134C>G (p.Leu1712Val)
n.5146C>G
c.4900C>G (p.Leu1634Val)
c.5149C>G (p.Leu1717Val)
Yg.12833800C>TCA519901854USP9Yc.5134C>T (p.Leu1712=)
n.5146C>T
c.4900C>T (p.Leu1634=)
c.5149C>T (p.Leu1717=)
Yg.12833801T>ACA414999086USP9Yc.5135T>A (p.Leu1712Gln)
n.5147T>A
c.4901T>A (p.Leu1634Gln)
c.5150T>A (p.Leu1717Gln)
Yg.12833801T>CCA414999088USP9Yc.5135T>C (p.Leu1712Pro)
n.5147T>C
c.4901T>C (p.Leu1634Pro)
c.5150T>C (p.Leu1717Pro)
Yg.12833801T>GCA414999089USP9Yc.5135T>G (p.Leu1712Arg)
n.5147T>G
c.4901T>G (p.Leu1634Arg)
c.5150T>G (p.Leu1717Arg)
Yg.12833802A>CCA519901861USP9Yc.5136A>C (p.Leu1712=)
n.5148A>C
c.4902A>C (p.Leu1634=)
c.5151A>C (p.Leu1717=)
Yg.12833802A>GCA519901866USP9Yc.5136A>G (p.Leu1712=)
n.5148A>G
c.4902A>G (p.Leu1634=)
c.5151A>G (p.Leu1717=)
Yg.12833802A>TCA519901864USP9Yc.5136A>T (p.Leu1712=)
n.5148A>T
c.4902A>T (p.Leu1634=)
c.5151A>T (p.Leu1717=)
Yg.12833803A>CCA414999094USP9Yc.5137A>C (p.Ser1713Arg)
n.5149A>C
c.4903A>C (p.Ser1635Arg)
c.5152A>C (p.Ser1718Arg)
Yg.12833803A>GCA414999093USP9Yc.5137A>G (p.Ser1713Gly)
n.5149A>G
c.4903A>G (p.Ser1635Gly)
c.5152A>G (p.Ser1718Gly)
Yg.12833803A>TCA414999092USP9Yc.5137A>T (p.Ser1713Cys)
n.5149A>T
c.4903A>T (p.Ser1635Cys)
c.5152A>T (p.Ser1718Cys)
Yg.12833804G>ACA10573384USP9Yc.5138G>A (p.Ser1713Asn)
n.5150G>A
c.4904G>A (p.Ser1635Asn)
c.5153G>A (p.Ser1718Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12833804G>CCA414999097USP9Yc.5138G>C (p.Ser1713Thr)
n.5150G>C
c.4904G>C (p.Ser1635Thr)
c.5153G>C (p.Ser1718Thr)
Yg.12833804G=CA2470560458USP9Yc.5138G= (p.Ser1713=)
n.5150G=
c.4904G= (p.Ser1635=)
c.5153G= (p.Ser1718=)
Yg.12833804G>TCA414999099USP9Yc.5138G>T (p.Ser1713Ile)
n.5150G>T
c.4904G>T (p.Ser1635Ile)
c.5153G>T (p.Ser1718Ile)
Yg.12833805T>ACA414999101USP9Yc.5139T>A (p.Ser1713Arg)
n.5151T>A
c.4905T>A (p.Ser1635Arg)
c.5154T>A (p.Ser1718Arg)
Yg.12833805T>CCA519901873USP9Yc.5139T>C (p.Ser1713=)
n.5151T>C
c.4905T>C (p.Ser1635=)
c.5154T>C (p.Ser1718=)
Yg.12833805T>GCA414999102USP9Yc.5139T>G (p.Ser1713Arg)
n.5151T>G
c.4905T>G (p.Ser1635Arg)
c.5154T>G (p.Ser1718Arg)
Yg.12833806A>CCA414999104USP9Yc.5140A>C (p.Lys1714Gln)
n.5152A>C
c.4906A>C (p.Lys1636Gln)
c.5155A>C (p.Lys1719Gln)
Yg.12833806A>GCA414999105USP9Yc.5140A>G (p.Lys1714Glu)
n.5152A>G
c.4906A>G (p.Lys1636Glu)
c.5155A>G (p.Lys1719Glu)
Yg.12833806A>TCA414999107USP9Yc.5140A>T (p.Lys1714Ter)
n.5152A>T
c.4906A>T (p.Lys1636Ter)
c.5155A>T (p.Lys1719Ter)
Yg.12833807A>CCA414999109USP9Yc.5141A>C (p.Lys1714Thr)
n.5153A>C
c.4907A>C (p.Lys1636Thr)
c.5156A>C (p.Lys1719Thr)
Yg.12833807A>GCA414999110USP9Yc.5141A>G (p.Lys1714Arg)
n.5153A>G
c.4907A>G (p.Lys1636Arg)
c.5156A>G (p.Lys1719Arg)
Yg.12833807A>TCA414999112USP9Yc.5141A>T (p.Lys1714Ile)
n.5153A>T
c.4907A>T (p.Lys1636Ile)
c.5156A>T (p.Lys1719Ile)
Yg.12833808A>CCA414999116USP9Yc.5142A>C (p.Lys1714Asn)
n.5154A>C
c.4908A>C (p.Lys1636Asn)
c.5157A>C (p.Lys1719Asn)
Yg.12833808A>GCA519901884USP9Yc.5142A>G (p.Lys1714=)
n.5154A>G
c.4908A>G (p.Lys1636=)
c.5157A>G (p.Lys1719=)
Yg.12833808A>TCA414999114USP9Yc.5142A>T (p.Lys1714Asn)
n.5154A>T
c.4908A>T (p.Lys1636Asn)
c.5157A>T (p.Lys1719Asn)
Yg.12833809G>ACA414999118USP9Yc.5143G>A (p.Val1715Ile)
n.5155G>A
c.4909G>A (p.Val1637Ile)
c.5158G>A (p.Val1720Ile)
Yg.12833809G>CCA414999119USP9Yc.5143G>C (p.Val1715Leu)
n.5155G>C
c.4909G>C (p.Val1637Leu)
c.5158G>C (p.Val1720Leu)
Yg.12833809G>TCA414999121USP9Yc.5143G>T (p.Val1715Phe)
n.5155G>T
c.4909G>T (p.Val1637Phe)
c.5158G>T (p.Val1720Phe)
Yg.12833810T>ACA414999123USP9Yc.5144T>A (p.Val1715Asp)
n.5156T>A
c.4910T>A (p.Val1637Asp)
c.5159T>A (p.Val1720Asp)
Yg.12833810T>CCA414999124USP9Yc.5144T>C (p.Val1715Ala)
n.5156T>C
c.4910T>C (p.Val1637Ala)
c.5159T>C (p.Val1720Ala)
Yg.12833810T>GCA414999126USP9Yc.5144T>G (p.Val1715Gly)
n.5156T>G
c.4910T>G (p.Val1637Gly)
c.5159T>G (p.Val1720Gly)
Yg.12833811C>ACA519901897USP9Yc.5145C>A (p.Val1715=)
n.5157C>A
c.4911C>A (p.Val1637=)
c.5160C>A (p.Val1720=)
Yg.12833811C>GCA519901894USP9Yc.5145C>G (p.Val1715=)
n.5157C>G
c.4911C>G (p.Val1637=)
c.5160C>G (p.Val1720=)
Yg.12833811C>TCA519901896USP9Yc.5145C>T (p.Val1715=)
n.5157C>T
c.4911C>T (p.Val1637=)
c.5160C>T (p.Val1720=)
Yg.12833812C>ACA414999128USP9Yc.5146C>A (p.Leu1716Ile)
n.5158C>A
c.4912C>A (p.Leu1638Ile)
c.5161C>A (p.Leu1721Ile)
Yg.12833812C>GCA414999130USP9Yc.5146C>G (p.Leu1716Val)
n.5158C>G
c.4912C>G (p.Leu1638Val)
c.5161C>G (p.Leu1721Val)
Yg.12833812C>TCA519901901USP9Yc.5146C>T (p.Leu1716=)
n.5158C>T
c.4912C>T (p.Leu1638=)
c.5161C>T (p.Leu1721=)
Yg.12833813T>ACA414999131USP9Yc.5147T>A (p.Leu1716Gln)
n.5159T>A
c.4913T>A (p.Leu1638Gln)
c.5162T>A (p.Leu1721Gln)
Yg.12833813T>CCA414999132USP9Yc.5147T>C (p.Leu1716Pro)
n.5159T>C
c.4913T>C (p.Leu1638Pro)
c.5162T>C (p.Leu1721Pro)
Yg.12833813T>GCA414999134USP9Yc.5147T>G (p.Leu1716Arg)
n.5159T>G
c.4913T>G (p.Leu1638Arg)
c.5162T>G (p.Leu1721Arg)
Yg.12833814A>CCA519901908USP9Yc.5148A>C (p.Leu1716=)
n.5160A>C
c.4914A>C (p.Leu1638=)
c.5163A>C (p.Leu1721=)
Yg.12833814A>GCA519901910USP9Yc.5148A>G (p.Leu1716=)
n.5160A>G
c.4914A>G (p.Leu1638=)
c.5163A>G (p.Leu1721=)
Yg.12833814A>TCA519901913USP9Yc.5148A>T (p.Leu1716=)
n.5160A>T
c.4914A>T (p.Leu1638=)
c.5163A>T (p.Leu1721=)
Yg.12833815G>ACA414999139USP9Yc.5149G>A (p.Gly1717Arg)
n.5161G>A
c.4915G>A (p.Gly1639Arg)
c.5164G>A (p.Gly1722Arg)
Yg.12833815G>CCA414999138USP9Yc.5149G>C (p.Gly1717Arg)
n.5161G>C
c.4915G>C (p.Gly1639Arg)
c.5164G>C (p.Gly1722Arg)
Yg.12833815G>TCA414999136USP9Yc.5149G>T (p.Gly1717Ter)
n.5161G>T
c.4915G>T (p.Gly1639Ter)
c.5164G>T (p.Gly1722Ter)
Yg.12833816G>ACA414999141USP9Yc.5150G>A (p.Gly1717Glu)
n.5162G>A
c.4916G>A (p.Gly1639Glu)
c.5165G>A (p.Gly1722Glu)
Yg.12833816G>CCA414999142USP9Yc.5150G>C (p.Gly1717Ala)
n.5162G>C
c.4916G>C (p.Gly1639Ala)
c.5165G>C (p.Gly1722Ala)
Yg.12833816G>TCA414999144USP9Yc.5150G>T (p.Gly1717Val)
n.5162G>T
c.4916G>T (p.Gly1639Val)
c.5165G>T (p.Gly1722Val)
Yg.12833817A>CCA519901920USP9Yc.5151A>C (p.Gly1717=)
n.5163A>C
c.4917A>C (p.Gly1639=)
c.5166A>C (p.Gly1722=)
Yg.12833817A>GCA519901921USP9Yc.5151A>G (p.Gly1717=)
n.5163A>G
c.4917A>G (p.Gly1639=)
c.5166A>G (p.Gly1722=)
Yg.12833817A>TCA519901923USP9Yc.5151A>T (p.Gly1717=)
n.5163A>T
c.4917A>T (p.Gly1639=)
c.5166A>T (p.Gly1722=)
Yg.12833818G>ACA414999146USP9Yc.5152G>A (p.Gly1718Ser)
n.5164G>A
c.4918G>A (p.Gly1640Ser)
c.5167G>A (p.Gly1723Ser)
Yg.12833818G>CCA414999147USP9Yc.5152G>C (p.Gly1718Arg)
n.5164G>C
c.4918G>C (p.Gly1640Arg)
c.5167G>C (p.Gly1723Arg)
Yg.12833818G>TCA414999149USP9Yc.5152G>T (p.Gly1718Cys)
n.5164G>T
c.4918G>T (p.Gly1640Cys)
c.5167G>T (p.Gly1723Cys)
Yg.12833819G>ACA414999150USP9Yc.5153G>A (p.Gly1718Asp)
n.5165G>A
c.4919G>A (p.Gly1640Asp)
c.5168G>A (p.Gly1723Asp)
Yg.12833819G>CCA414999152USP9Yc.5153G>C (p.Gly1718Ala)
n.5165G>C
c.4919G>C (p.Gly1640Ala)
c.5168G>C (p.Gly1723Ala)
Yg.12833819G>TCA414999154USP9Yc.5153G>T (p.Gly1718Val)
n.5165G>T
c.4919G>T (p.Gly1640Val)
c.5168G>T (p.Gly1723Val)
Yg.12833820C>ACA519901934USP9Yc.5154C>A (p.Gly1718=)
n.5166C>A
c.4920C>A (p.Gly1640=)
c.5169C>A (p.Gly1723=)
Yg.12833820C>GCA519901936USP9Yc.5154C>G (p.Gly1718=)
n.5166C>G
c.4920C>G (p.Gly1640=)
c.5169C>G (p.Gly1723=)
Yg.12833820C>TCA519901937USP9Yc.5154C>T (p.Gly1718=)
n.5166C>T
c.4920C>T (p.Gly1640=)
c.5169C>T (p.Gly1723=)
Yg.12833821T>ACA414999156USP9Yc.5155T>A (p.Ser1719Thr)
n.5167T>A
c.4921T>A (p.Ser1641Thr)
c.5170T>A (p.Ser1724Thr)
Yg.12833821T>CCA414999157USP9Yc.5155T>C (p.Ser1719Pro)
n.5167T>C
c.4921T>C (p.Ser1641Pro)
c.5170T>C (p.Ser1724Pro)
Yg.12833821T>GCA414999159USP9Yc.5155T>G (p.Ser1719Ala)
n.5167T>G
c.4921T>G (p.Ser1641Ala)
c.5170T>G (p.Ser1724Ala)
Yg.12833822C>ACA414999162USP9Yc.5156C>A (p.Ser1719Tyr)
n.5168C>A
c.4922C>A (p.Ser1641Tyr)
c.5171C>A (p.Ser1724Tyr)
Yg.12833822C>GCA414999164USP9Yc.5156C>G (p.Ser1719Cys)
n.5168C>G
c.4922C>G (p.Ser1641Cys)
c.5171C>G (p.Ser1724Cys)
Yg.12833822C>TCA414999161USP9Yc.5156C>T (p.Ser1719Phe)
n.5168C>T
c.4922C>T (p.Ser1641Phe)
c.5171C>T (p.Ser1724Phe)
Yg.12833823C>ACA519901952USP9Yc.5157C>A (p.Ser1719=)
n.5169C>A
c.4923C>A (p.Ser1641=)
c.5172C>A (p.Ser1724=)
Yg.12833823C>GCA519901954USP9Yc.5157C>G (p.Ser1719=)
n.5169C>G
c.4923C>G (p.Ser1641=)
c.5172C>G (p.Ser1724=)
Yg.12833823C>TCA519901956USP9Yc.5157C>T (p.Ser1719=)
n.5169C>T
c.4923C>T (p.Ser1641=)
c.5172C>T (p.Ser1724=)
Yg.12833824T>ACA414999168USP9Yc.5158T>A (p.Phe1720Ile)
n.5170T>A
c.4924T>A (p.Phe1642Ile)
c.5173T>A (p.Phe1725Ile)
Yg.12833824T>CCA414999166USP9Yc.5158T>C (p.Phe1720Leu)
n.5170T>C
c.4924T>C (p.Phe1642Leu)
c.5173T>C (p.Phe1725Leu)
Yg.12833824T>GCA414999169USP9Yc.5158T>G (p.Phe1720Val)
n.5170T>G
c.4924T>G (p.Phe1642Val)
c.5173T>G (p.Phe1725Val)
Yg.12833825T>ACA414999170USP9Yc.5159T>A (p.Phe1720Tyr)
n.5171T>A
c.4925T>A (p.Phe1642Tyr)
c.5174T>A (p.Phe1725Tyr)
Yg.12833825T>CCA414999174USP9Yc.5159T>C (p.Phe1720Ser)
n.5171T>C
c.4925T>C (p.Phe1642Ser)
c.5174T>C (p.Phe1725Ser)
Yg.12833825T>GCA414999172USP9Yc.5159T>G (p.Phe1720Cys)
n.5171T>G
c.4925T>G (p.Phe1642Cys)
c.5174T>G (p.Phe1725Cys)
Yg.12833826T>ACA414999176USP9Yc.5160T>A (p.Phe1720Leu)
n.5172T>A
c.4926T>A (p.Phe1642Leu)
c.5175T>A (p.Phe1725Leu)
Yg.12833826T>CCA519901965USP9Yc.5160T>C (p.Phe1720=)
n.5172T>C
c.4926T>C (p.Phe1642=)
c.5175T>C (p.Phe1725=)
Yg.12833826T>GCA414999177USP9Yc.5160T>G (p.Phe1720Leu)
n.5172T>G
c.4926T>G (p.Phe1642Leu)
c.5175T>G (p.Phe1725Leu)
Yg.12833827G>ACA414999179USP9Yc.5161G>A (p.Ala1721Thr)
n.5173G>A
c.4927G>A (p.Ala1643Thr)
c.5176G>A (p.Ala1726Thr)
Yg.12833827G>CCA414999181USP9Yc.5161G>C (p.Ala1721Pro)
n.5173G>C
c.4927G>C (p.Ala1643Pro)
c.5176G>C (p.Ala1726Pro)
Yg.12833827G>TCA414999182USP9Yc.5161G>T (p.Ala1721Ser)
n.5173G>T
c.4927G>T (p.Ala1643Ser)
c.5176G>T (p.Ala1726Ser)
Yg.12833828C>ACA414999184USP9Yc.5162C>A (p.Ala1721Asp)
n.5174C>A
c.4928C>A (p.Ala1643Asp)
c.5177C>A (p.Ala1726Asp)
Yg.12833828C>GCA414999186USP9Yc.5162C>G (p.Ala1721Gly)
n.5174C>G
c.4928C>G (p.Ala1643Gly)
c.5177C>G (p.Ala1726Gly)
Yg.12833828C>TCA414999188USP9Yc.5162C>T (p.Ala1721Val)
n.5174C>T
c.4928C>T (p.Ala1643Val)
c.5177C>T (p.Ala1726Val)
Yg.12833829T>ACA519901974USP9Yc.5163T>A (p.Ala1721=)
n.5175T>A
c.4929T>A (p.Ala1643=)
c.5178T>A (p.Ala1726=)
Yg.12833829T>CCA519901976USP9Yc.5163T>C (p.Ala1721=)
n.5175T>C
c.4929T>C (p.Ala1643=)
c.5178T>C (p.Ala1726=)
Yg.12833829T>GCA519901978USP9Yc.5163T>G (p.Ala1721=)
n.5175T>G
c.4929T>G (p.Ala1643=)
c.5178T>G (p.Ala1726=)
Yg.12833830G>ACA414999189USP9Yc.5164G>A (p.Asp1722Asn)
n.5176G>A
c.4930G>A (p.Asp1644Asn)
c.5179G>A (p.Asp1727Asn)
Yg.12833830G>CCA414999191USP9Yc.5164G>C (p.Asp1722His)
n.5176G>C
c.4930G>C (p.Asp1644His)
c.5179G>C (p.Asp1727His)
Yg.12833830G>TCA414999192USP9Yc.5164G>T (p.Asp1722Tyr)
n.5176G>T
c.4930G>T (p.Asp1644Tyr)
c.5179G>T (p.Asp1727Tyr)
Yg.12833831A>CCA414999197USP9Yc.5165A>C (p.Asp1722Ala)
n.5177A>C
c.4931A>C (p.Asp1644Ala)
c.5180A>C (p.Asp1727Ala)
Yg.12833831A>GCA414999194USP9Yc.5165A>G (p.Asp1722Gly)
n.5177A>G
c.4931A>G (p.Asp1644Gly)
c.5180A>G (p.Asp1727Gly)
Yg.12833831A>TCA414999196USP9Yc.5165A>T (p.Asp1722Val)
n.5177A>T
c.4931A>T (p.Asp1644Val)
c.5180A>T (p.Asp1727Val)
Yg.12833832T>ACA414999199USP9Yc.5166T>A (p.Asp1722Glu)
n.5178T>A
c.4932T>A (p.Asp1644Glu)
c.5181T>A (p.Asp1727Glu)
Yg.12833832T>CCA519901988USP9Yc.5166T>C (p.Asp1722=)
n.5178T>C
c.4932T>C (p.Asp1644=)
c.5181T>C (p.Asp1727=)
Yg.12833832T>GCA414999201USP9Yc.5166T>G (p.Asp1722Glu)
n.5178T>G
c.4932T>G (p.Asp1644Glu)
c.5181T>G (p.Asp1727Glu)
Yg.12833833C>ACA414999202USP9Yc.5167C>A (p.Gln1723Lys)
n.5179C>A
c.4933C>A (p.Gln1645Lys)
c.5182C>A (p.Gln1728Lys)
Yg.12833833C>GCA414999203USP9Yc.5167C>G (p.Gln1723Glu)
n.5179C>G
c.4933C>G (p.Gln1645Glu)
c.5182C>G (p.Gln1728Glu)
Yg.12833833C>TCA414999205USP9Yc.5167C>T (p.Gln1723Ter)
n.5179C>T
c.4933C>T (p.Gln1645Ter)
c.5182C>T (p.Gln1728Ter)
Yg.12833834A>CCA414999207USP9Yc.5168A>C (p.Gln1723Pro)
n.5180A>C
c.4934A>C (p.Gln1645Pro)
c.5183A>C (p.Gln1728Pro)
Yg.12833834A>GCA414999209USP9Yc.5168A>G (p.Gln1723Arg)
n.5180A>G
c.4934A>G (p.Gln1645Arg)
c.5183A>G (p.Gln1728Arg)
Yg.12833834A>TCA414999210USP9Yc.5168A>T (p.Gln1723Leu)
n.5180A>T
c.4934A>T (p.Gln1645Leu)
c.5183A>T (p.Gln1728Leu)
Yg.12833835G>ACA519901996USP9Yc.5169G>A (p.Gln1723=)
n.5181G>A
c.4935G>A (p.Gln1645=)
c.5184G>A (p.Gln1728=)
gnomAD v3 gnomAD v4
Yg.12833835G>CCA414999212USP9Yc.5169G>C (p.Gln1723His)
n.5181G>C
c.4935G>C (p.Gln1645His)
c.5184G>C (p.Gln1728His)
Yg.12833835G>TCA414999214USP9Yc.5169G>T (p.Gln1723His)
n.5181G>T
c.4935G>T (p.Gln1645His)
c.5184G>T (p.Gln1728His)
Yg.12833836A>CCA414999219USP9Yc.5170A>C (p.Lys1724Gln)
n.5182A>C
c.4936A>C (p.Lys1646Gln)
c.5185A>C (p.Lys1729Gln)
Yg.12833836A>GCA414999217USP9Yc.5170A>G (p.Lys1724Glu)
n.5182A>G
c.4936A>G (p.Lys1646Glu)
c.5185A>G (p.Lys1729Glu)
Yg.12833836A>TCA414999216USP9Yc.5170A>T (p.Lys1724Ter)
n.5182A>T
c.4936A>T (p.Lys1646Ter)
c.5185A>T (p.Lys1729Ter)
Yg.12833837A>CCA414999220USP9Yc.5171A>C (p.Lys1724Thr)
n.5183A>C
c.4937A>C (p.Lys1646Thr)
c.5186A>C (p.Lys1729Thr)
Yg.12833837A>GCA414999222USP9Yc.5171A>G (p.Lys1724Arg)
n.5183A>G
c.4937A>G (p.Lys1646Arg)
c.5186A>G (p.Lys1729Arg)
Yg.12833837A>TCA414999224USP9Yc.5171A>T (p.Lys1724Met)
n.5183A>T
c.4937A>T (p.Lys1646Met)
c.5186A>T (p.Lys1729Met)

Number of alleles fetched