Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12833634A>GCA2766241998USP9Yc.5022-54A>G (n.5022-54A>G)
n.5034-54A>G
c.4788-54A>G (n.4788-54A>G)
c.5037-54A>G (n.5037-54A>G)
Yg.12833636G>TCA2579748039USP9Yc.5022-52G>T (n.5022-52G>T)
n.5034-52G>T
c.4788-52G>T (n.4788-52G>T)
c.5037-52G>T (n.5037-52G>T)
Yg.12833637G>TCA2766241999USP9Yc.5022-51G>T (n.5022-51G>T)
n.5034-51G>T
c.4788-51G>T (n.4788-51G>T)
c.5037-51G>T (n.5037-51G>T)
Yg.12833646G>TCA2516728791USP9Yc.5022-42G>T (n.5022-42G>T)
n.5034-42G>T
c.4788-42G>T (n.4788-42G>T)
c.5037-42G>T (n.5037-42G>T)
Yg.12833647G>ACA645286619USP9Yc.5022-41G>A (n.5022-41G>A)
n.5034-41G>A
c.4788-41G>A (n.4788-41G>A)
c.5037-41G>A (n.5037-41G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.12833647G=CA2470560439USP9Yc.5022-41G= (n.5022-41G=)
n.5034-41G=
c.4788-41G= (n.4788-41G=)
c.5037-41G= (n.5037-41G=)
Yg.12833648C=CA2470560440USP9Yc.5022-40C= (n.5022-40C=)
n.5034-40C=
c.4788-40C= (n.4788-40C=)
c.5037-40C= (n.5037-40C=)
Yg.12833648C>GCA2470560441USP9Yc.5022-40C>G (n.5022-40C>G)
n.5034-40C>G
c.4788-40C>G (n.4788-40C>G)
c.5037-40C>G (n.5037-40C>G)
dbSNP
Yg.12833649A>TCA2766242000USP9Yc.5022-39A>T (n.5022-39A>T)
n.5034-39A>T
c.4788-39A>T (n.4788-39A>T)
c.5037-39A>T (n.5037-39A>T)
Yg.12833651G>ACA2535088757USP9Yc.5022-37G>A (n.5022-37G>A)
n.5034-37G>A
c.4788-37G>A (n.4788-37G>A)
c.5037-37G>A (n.5037-37G>A)
Yg.12833651G>TCA2517582084USP9Yc.5022-37G>T (n.5022-37G>T)
n.5034-37G>T
c.4788-37G>T (n.4788-37G>T)
c.5037-37G>T (n.5037-37G>T)
Yg.12833652T>CCA2766242001USP9Yc.5022-36T>C (n.5022-36T>C)
n.5034-36T>C
c.4788-36T>C (n.4788-36T>C)
c.5037-36T>C (n.5037-36T>C)
Yg.12833655delCA2824886978USP9Yc.5022-33del (n.5022-33del)
n.5034-33del
c.4788-33del (n.4788-33del)
c.5037-33del (n.5037-33del)
Yg.12833656delCA2579748040USP9Yc.5022-32del (n.5022-32del)
n.5034-32del
c.4788-32del (n.4788-32del)
c.5037-32del (n.5037-32del)
Yg.12833656A=CA2470560442USP9Yc.5022-32A= (n.5022-32A=)
n.5034-32A=
c.4788-32A= (n.4788-32A=)
c.5037-32A= (n.5037-32A=)
Yg.12833656A>GCA1139272050USP9Yc.5022-32A>G (n.5022-32A>G)
n.5034-32A>G
c.4788-32A>G (n.4788-32A>G)
c.5037-32A>G (n.5037-32A>G)
dbSNP gnomAD v3 gnomAD v4
Yg.12833658A=CA2470560443USP9Yc.5022-30A= (n.5022-30A=)
n.5034-30A=
c.4788-30A= (n.4788-30A=)
c.5037-30A= (n.5037-30A=)
Yg.12833658A>GCA10573377USP9Yc.5022-30A>G (n.5022-30A>G)
n.5034-30A>G
c.4788-30A>G (n.4788-30A>G)
c.5037-30A>G (n.5037-30A>G)
dbSNP ExAC gnomAD v2
Yg.12833658A>TCA10573376USP9Yc.5022-30A>T (n.5022-30A>T)
n.5034-30A>T
c.4788-30A>T (n.4788-30A>T)
c.5037-30A>T (n.5037-30A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12833662C>GCA2766242002USP9Yc.5022-26C>G (n.5022-26C>G)
n.5034-26C>G
c.4788-26C>G (n.4788-26C>G)
c.5037-26C>G (n.5037-26C>G)
Yg.12833665A>GCA2579748041USP9Yc.5022-23A>G (n.5022-23A>G)
n.5034-23A>G
c.4788-23A>G (n.4788-23A>G)
c.5037-23A>G (n.5037-23A>G)
Yg.12833668_12833669delCA2766242004USP9Yc.5022-20_5022-19del (n.5022-20_5022-19del)
n.5034-20_5034-19del
c.4788-20_4788-19del (n.4788-20_4788-19del)
c.5037-20_5037-19del (n.5037-20_5037-19del)
Yg.12833667_12833669delCA2766242003USP9Yc.5022-21_5022-19del (n.5022-21_5022-19del)
n.5034-21_5034-19del
c.4788-21_4788-19del (n.4788-21_4788-19del)
c.5037-21_5037-19del (n.5037-21_5037-19del)
Yg.12833676T>ACA337720908USP9Yc.5022-12T>A (n.5022-12T>A)
n.5034-12T>A
c.4788-12T>A (n.4788-12T>A)
c.5037-12T>A (n.5037-12T>A)
dbSNP
Yg.12833676T=CA2470560444USP9Yc.5022-12T= (n.5022-12T=)
n.5034-12T=
c.4788-12T= (n.4788-12T=)
c.5037-12T= (n.5037-12T=)
Yg.12833677T>GCA2579748042USP9Yc.5022-11T>G (n.5022-11T>G)
n.5034-11T>G
c.4788-11T>G (n.4788-11T>G)
c.5037-11T>G (n.5037-11T>G)
Yg.12833679C>TCA2766242005USP9Yc.5022-9C>T (n.5022-9C>T)
n.5034-9C>T
c.4788-9C>T (n.4788-9C>T)
c.5037-9C>T (n.5037-9C>T)
Yg.12833680C>TCA2589297628USP9Yc.5022-8C>T (n.5022-8C>T)
n.5034-8C>T
c.4788-8C>T (n.4788-8C>T)
c.5037-8C>T (n.5037-8C>T)
gnomAD v3 gnomAD v4
Yg.12833683_12833685delCA1139272056USP9Yc.5022-5_5022-3del (n.5022-5_5022-3del)
n.5034-5_5034-3del
c.4788-5_4788-3del (n.4788-5_4788-3del)
c.5037-5_5037-3del (n.5037-5_5037-3del)
gnomAD v3 gnomAD v4
Yg.12833686A>CCA414998583USP9Yc.5022-2A>C (n.5022-2A>C)
n.5034-2A>C
c.4788-2A>C (n.4788-2A>C)
c.5037-2A>C (n.5037-2A>C)
Yg.12833686A>GCA414998585USP9Yc.5022-2A>G (n.5022-2A>G)
n.5034-2A>G
c.4788-2A>G (n.4788-2A>G)
c.5037-2A>G (n.5037-2A>G)
Yg.12833686A>TCA414998587USP9Yc.5022-2A>T (n.5022-2A>T)
n.5034-2A>T
c.4788-2A>T (n.4788-2A>T)
c.5037-2A>T (n.5037-2A>T)
Yg.12833687G>ACA414998589USP9Yc.5022-1G>A (n.5022-1G>A)
n.5034-1G>A
c.4788-1G>A (n.4788-1G>A)
c.5037-1G>A (n.5037-1G>A)
Yg.12833687G>CCA414998591USP9Yc.5022-1G>C (n.5022-1G>C)
n.5034-1G>C
c.4788-1G>C (n.4788-1G>C)
c.5037-1G>C (n.5037-1G>C)
Yg.12833687G>TCA414998592USP9Yc.5022-1G>T (n.5022-1G>T)
n.5034-1G>T
c.4788-1G>T (n.4788-1G>T)
c.5037-1G>T (n.5037-1G>T)
Yg.12833688G>ACA519901419USP9Yc.5022G>A (p.Arg1674=)
n.5034G>A
c.4788G>A (p.Arg1596=)
c.5037G>A (p.Arg1679=)
Yg.12833688G>CCA414998595USP9Yc.5022G>C (p.Arg1674Ser)
n.5034G>C
c.4788G>C (p.Arg1596Ser)
c.5037G>C (p.Arg1679Ser)
Yg.12833688G>TCA414998596USP9Yc.5022G>T (p.Arg1674Ser)
n.5034G>T
c.4788G>T (p.Arg1596Ser)
c.5037G>T (p.Arg1679Ser)
Yg.12833689C>ACA414998599USP9Yc.5023C>A (p.Leu1675Ile)
n.5035C>A
c.4789C>A (p.Leu1597Ile)
c.5038C>A (p.Leu1680Ile)
Yg.12833689C>GCA414998601USP9Yc.5023C>G (p.Leu1675Val)
n.5035C>G
c.4789C>G (p.Leu1597Val)
c.5038C>G (p.Leu1680Val)
Yg.12833689C>TCA414998602USP9Yc.5023C>T (p.Leu1675Phe)
n.5035C>T
c.4789C>T (p.Leu1597Phe)
c.5038C>T (p.Leu1680Phe)
Yg.12833690T>ACA414998608USP9Yc.5024T>A (p.Leu1675His)
n.5036T>A
c.4790T>A (p.Leu1597His)
c.5039T>A (p.Leu1680His)
Yg.12833690T>CCA414998607USP9Yc.5024T>C (p.Leu1675Pro)
n.5036T>C
c.4790T>C (p.Leu1597Pro)
c.5039T>C (p.Leu1680Pro)
Yg.12833690T>GCA414998605USP9Yc.5024T>G (p.Leu1675Arg)
n.5036T>G
c.4790T>G (p.Leu1597Arg)
c.5039T>G (p.Leu1680Arg)
Yg.12833691T>ACA519901429USP9Yc.5025T>A (p.Leu1675=)
n.5037T>A
c.4791T>A (p.Leu1597=)
c.5040T>A (p.Leu1680=)
Yg.12833691T>CCA519901431USP9Yc.5025T>C (p.Leu1675=)
n.5037T>C
c.4791T>C (p.Leu1597=)
c.5040T>C (p.Leu1680=)
Yg.12833691T>GCA519901432USP9Yc.5025T>G (p.Leu1675=)
n.5037T>G
c.4791T>G (p.Leu1597=)
c.5040T>G (p.Leu1680=)
Yg.12833692T>ACA414998611USP9Yc.5026T>A (p.Trp1676Arg)
n.5038T>A
c.4792T>A (p.Trp1598Arg)
c.5041T>A (p.Trp1681Arg)
Yg.12833692T>CCA414998612USP9Yc.5026T>C (p.Trp1676Arg)
n.5038T>C
c.4792T>C (p.Trp1598Arg)
c.5041T>C (p.Trp1681Arg)
Yg.12833692T>GCA414998614USP9Yc.5026T>G (p.Trp1676Gly)
n.5038T>G
c.4792T>G (p.Trp1598Gly)
c.5041T>G (p.Trp1681Gly)
Yg.12833693G>ACA414998617USP9Yc.5027G>A (p.Trp1676Ter)
n.5039G>A
c.4793G>A (p.Trp1598Ter)
c.5042G>A (p.Trp1681Ter)
Yg.12833693G>CCA414998618USP9Yc.5027G>C (p.Trp1676Ser)
n.5039G>C
c.4793G>C (p.Trp1598Ser)
c.5042G>C (p.Trp1681Ser)
Yg.12833693G>TCA414998619USP9Yc.5027G>T (p.Trp1676Leu)
n.5039G>T
c.4793G>T (p.Trp1598Leu)
c.5042G>T (p.Trp1681Leu)
Yg.12833694G>ACA414998621USP9Yc.5028G>A (p.Trp1676Ter)
n.5040G>A
c.4794G>A (p.Trp1598Ter)
c.5043G>A (p.Trp1681Ter)
Yg.12833694G>CCA414998623USP9Yc.5028G>C (p.Trp1676Cys)
n.5040G>C
c.4794G>C (p.Trp1598Cys)
c.5043G>C (p.Trp1681Cys)
Yg.12833694G>TCA414998625USP9Yc.5028G>T (p.Trp1676Cys)
n.5040G>T
c.4794G>T (p.Trp1598Cys)
c.5043G>T (p.Trp1681Cys)
Yg.12833695G>ACA414998627USP9Yc.5029G>A (p.Gly1677Ser)
n.5041G>A
c.4795G>A (p.Gly1599Ser)
c.5044G>A (p.Gly1682Ser)
Yg.12833695G>CCA414998628USP9Yc.5029G>C (p.Gly1677Arg)
n.5041G>C
c.4795G>C (p.Gly1599Arg)
c.5044G>C (p.Gly1682Arg)
Yg.12833695G>TCA414998630USP9Yc.5029G>T (p.Gly1677Cys)
n.5041G>T
c.4795G>T (p.Gly1599Cys)
c.5044G>T (p.Gly1682Cys)
Yg.12833696G>ACA414998634USP9Yc.5030G>A (p.Gly1677Asp)
n.5042G>A
c.4796G>A (p.Gly1599Asp)
c.5045G>A (p.Gly1682Asp)
Yg.12833696G>CCA414998636USP9Yc.5030G>C (p.Gly1677Ala)
n.5042G>C
c.4796G>C (p.Gly1599Ala)
c.5045G>C (p.Gly1682Ala)
Yg.12833696G>TCA414998632USP9Yc.5030G>T (p.Gly1677Val)
n.5042G>T
c.4796G>T (p.Gly1599Val)
c.5045G>T (p.Gly1682Val)
Yg.12833697T>ACA519901450USP9Yc.5031T>A (p.Gly1677=)
n.5043T>A
c.4797T>A (p.Gly1599=)
c.5046T>A (p.Gly1682=)
Yg.12833697T>CCA519901452USP9Yc.5031T>C (p.Gly1677=)
n.5043T>C
c.4797T>C (p.Gly1599=)
c.5046T>C (p.Gly1682=)
Yg.12833697T>GCA519901453USP9Yc.5031T>G (p.Gly1677=)
n.5043T>G
c.4797T>G (p.Gly1599=)
c.5046T>G (p.Gly1682=)
Yg.12833698G>ACA414998638USP9Yc.5032G>A (p.Glu1678Lys)
n.5044G>A
c.4798G>A (p.Glu1600Lys)
c.5047G>A (p.Glu1683Lys)
Yg.12833698G>CCA414998640USP9Yc.5032G>C (p.Glu1678Gln)
n.5044G>C
c.4798G>C (p.Glu1600Gln)
c.5047G>C (p.Glu1683Gln)
Yg.12833698G>TCA414998642USP9Yc.5032G>T (p.Glu1678Ter)
n.5044G>T
c.4798G>T (p.Glu1600Ter)
c.5047G>T (p.Glu1683Ter)
Yg.12833699A>CCA414998645USP9Yc.5033A>C (p.Glu1678Ala)
n.5045A>C
c.4799A>C (p.Glu1600Ala)
c.5048A>C (p.Glu1683Ala)
Yg.12833699A>GCA414998646USP9Yc.5033A>G (p.Glu1678Gly)
n.5045A>G
c.4799A>G (p.Glu1600Gly)
c.5048A>G (p.Glu1683Gly)
Yg.12833699A>TCA414998648USP9Yc.5033A>T (p.Glu1678Val)
n.5045A>T
c.4799A>T (p.Glu1600Val)
c.5048A>T (p.Glu1683Val)
Yg.12833700A>CCA414998651USP9Yc.5034A>C (p.Glu1678Asp)
n.5046A>C
c.4800A>C (p.Glu1600Asp)
c.5049A>C (p.Glu1683Asp)
Yg.12833700A>GCA519901463USP9Yc.5034A>G (p.Glu1678=)
n.5046A>G
c.4800A>G (p.Glu1600=)
c.5049A>G (p.Glu1683=)
Yg.12833700A>TCA414998650USP9Yc.5034A>T (p.Glu1678Asp)
n.5046A>T
c.4800A>T (p.Glu1600Asp)
c.5049A>T (p.Glu1683Asp)
Yg.12833701C>ACA414998653USP9Yc.5035C>A (p.Pro1679Thr)
n.5047C>A
c.4801C>A (p.Pro1601Thr)
c.5050C>A (p.Pro1684Thr)
Yg.12833701C>GCA414998655USP9Yc.5035C>G (p.Pro1679Ala)
n.5047C>G
c.4801C>G (p.Pro1601Ala)
c.5050C>G (p.Pro1684Ala)
Yg.12833701C>TCA414998657USP9Yc.5035C>T (p.Pro1679Ser)
n.5047C>T
c.4801C>T (p.Pro1601Ser)
c.5050C>T (p.Pro1684Ser)
Yg.12833702C>ACA337720909USP9Yc.5036C>A (p.Pro1679His)
n.5048C>A
c.4802C>A (p.Pro1601His)
c.5051C>A (p.Pro1684His)
dbSNP
Yg.12833702C=CA2470560445USP9Yc.5036C= (p.Pro1679=)
n.5048C=
c.4802C= (p.Pro1601=)
c.5051C= (p.Pro1684=)
Yg.12833702C>GCA414998660USP9Yc.5036C>G (p.Pro1679Arg)
n.5048C>G
c.4802C>G (p.Pro1601Arg)
c.5051C>G (p.Pro1684Arg)
Yg.12833702C>TCA414998662USP9Yc.5036C>T (p.Pro1679Leu)
n.5048C>T
c.4802C>T (p.Pro1601Leu)
c.5051C>T (p.Pro1684Leu)
Yg.12833703T>ACA519901471USP9Yc.5037T>A (p.Pro1679=)
n.5049T>A
c.4803T>A (p.Pro1601=)
c.5052T>A (p.Pro1684=)
Yg.12833703T>CCA519901474USP9Yc.5037T>C (p.Pro1679=)
n.5049T>C
c.4803T>C (p.Pro1601=)
c.5052T>C (p.Pro1684=)
Yg.12833703T>GCA519901475USP9Yc.5037T>G (p.Pro1679=)
n.5049T>G
c.4803T>G (p.Pro1601=)
c.5052T>G (p.Pro1684=)
Yg.12833704G>ACA414998665USP9Yc.5038G>A (p.Val1680Ile)
n.5050G>A
c.4804G>A (p.Val1602Ile)
c.5053G>A (p.Val1685Ile)
Yg.12833704G>CCA414998668USP9Yc.5038G>C (p.Val1680Leu)
n.5050G>C
c.4804G>C (p.Val1602Leu)
c.5053G>C (p.Val1685Leu)
Yg.12833704G>TCA414998666USP9Yc.5038G>T (p.Val1680Phe)
n.5050G>T
c.4804G>T (p.Val1602Phe)
c.5053G>T (p.Val1685Phe)
Yg.12833705T>ACA414998670USP9Yc.5039T>A (p.Val1680Asp)
n.5051T>A
c.4805T>A (p.Val1602Asp)
c.5054T>A (p.Val1685Asp)
Yg.12833705T>CCA414998671USP9Yc.5039T>C (p.Val1680Ala)
n.5051T>C
c.4805T>C (p.Val1602Ala)
c.5054T>C (p.Val1685Ala)
Yg.12833705T>GCA414998673USP9Yc.5039T>G (p.Val1680Gly)
n.5051T>G
c.4805T>G (p.Val1602Gly)
c.5054T>G (p.Val1685Gly)
Yg.12833706T>ACA519901486USP9Yc.5040T>A (p.Val1680=)
n.5052T>A
c.4806T>A (p.Val1602=)
c.5055T>A (p.Val1685=)
Yg.12833706T>CCA519901484USP9Yc.5040T>C (p.Val1680=)
n.5052T>C
c.4806T>C (p.Val1602=)
c.5055T>C (p.Val1685=)
Yg.12833706T>GCA519901482USP9Yc.5040T>G (p.Val1680=)
n.5052T>G
c.4806T>G (p.Val1602=)
c.5055T>G (p.Val1685=)
Yg.12833707A>CCA414998675USP9Yc.5041A>C (p.Asn1681His)
n.5053A>C
c.4807A>C (p.Asn1603His)
c.5056A>C (p.Asn1686His)
Yg.12833707A>GCA414998677USP9Yc.5041A>G (p.Asn1681Asp)
n.5053A>G
c.4807A>G (p.Asn1603Asp)
c.5056A>G (p.Asn1686Asp)
Yg.12833707A>TCA414998678USP9Yc.5041A>T (p.Asn1681Tyr)
n.5053A>T
c.4807A>T (p.Asn1603Tyr)
c.5056A>T (p.Asn1686Tyr)
Yg.12833708A>CCA414998681USP9Yc.5042A>C (p.Asn1681Thr)
n.5054A>C
c.4808A>C (p.Asn1603Thr)
c.5057A>C (p.Asn1686Thr)
Yg.12833708A>GCA414998682USP9Yc.5042A>G (p.Asn1681Ser)
n.5054A>G
c.4808A>G (p.Asn1603Ser)
c.5057A>G (p.Asn1686Ser)
Yg.12833708A>TCA414998684USP9Yc.5042A>T (p.Asn1681Ile)
n.5054A>T
c.4808A>T (p.Asn1603Ile)
c.5057A>T (p.Asn1686Ile)
Yg.12833709T>ACA414998686USP9Yc.5043T>A (p.Asn1681Lys)
n.5055T>A
c.4809T>A (p.Asn1603Lys)
c.5058T>A (p.Asn1686Lys)
Yg.12833709T>CCA519901494USP9Yc.5043T>C (p.Asn1681=)
n.5055T>C
c.4809T>C (p.Asn1603=)
c.5058T>C (p.Asn1686=)
Yg.12833709T>GCA414998688USP9Yc.5043T>G (p.Asn1681Lys)
n.5055T>G
c.4809T>G (p.Asn1603Lys)
c.5058T>G (p.Asn1686Lys)
Yg.12833710C>ACA414998689USP9Yc.5044C>A (p.Leu1682Ile)
n.5056C>A
c.4810C>A (p.Leu1604Ile)
c.5059C>A (p.Leu1687Ile)
Yg.12833710C>GCA414998694USP9Yc.5044C>G (p.Leu1682Val)
n.5056C>G
c.4810C>G (p.Leu1604Val)
c.5059C>G (p.Leu1687Val)
Yg.12833710C>TCA414998692USP9Yc.5044C>T (p.Leu1682Phe)
n.5056C>T
c.4810C>T (p.Leu1604Phe)
c.5059C>T (p.Leu1687Phe)
Yg.12833711T>ACA414998696USP9Yc.5045T>A (p.Leu1682His)
n.5057T>A
c.4811T>A (p.Leu1604His)
c.5060T>A (p.Leu1687His)
Yg.12833711T>CCA414998698USP9Yc.5045T>C (p.Leu1682Pro)
n.5057T>C
c.4811T>C (p.Leu1604Pro)
c.5060T>C (p.Leu1687Pro)
Yg.12833711T>GCA414998700USP9Yc.5045T>G (p.Leu1682Arg)
n.5057T>G
c.4811T>G (p.Leu1604Arg)
c.5060T>G (p.Leu1687Arg)
Yg.12833712C>ACA519901503USP9Yc.5046C>A (p.Leu1682=)
n.5058C>A
c.4812C>A (p.Leu1604=)
c.5061C>A (p.Leu1687=)
Yg.12833712C>GCA519901507USP9Yc.5046C>G (p.Leu1682=)
n.5058C>G
c.4812C>G (p.Leu1604=)
c.5061C>G (p.Leu1687=)
Yg.12833712C>TCA519901505USP9Yc.5046C>T (p.Leu1682=)
n.5058C>T
c.4812C>T (p.Leu1604=)
c.5061C>T (p.Leu1687=)
Yg.12833713C>ACA414998703USP9Yc.5047C>A (p.Arg1683Ser)
n.5059C>A
c.4813C>A (p.Arg1605Ser)
c.5062C>A (p.Arg1688Ser)
Yg.12833713C=CA2470560446USP9Yc.5047C= (p.Arg1683=)
n.5059C=
c.4813C= (p.Arg1605=)
c.5062C= (p.Arg1688=)
Yg.12833713C>GCA414998705USP9Yc.5047C>G (p.Arg1683Gly)
n.5059C>G
c.4813C>G (p.Arg1605Gly)
c.5062C>G (p.Arg1688Gly)
Yg.12833713C>TCA414998707USP9Yc.5047C>T (p.Arg1683Cys)
n.5059C>T
c.4813C>T (p.Arg1605Cys)
c.5062C>T (p.Arg1688Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Yg.12833714G>ACA10573378USP9Yc.5048G>A (p.Arg1683His)
n.5060G>A
c.4814G>A (p.Arg1605His)
c.5063G>A (p.Arg1688His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Yg.12833714G>CCA414998710USP9Yc.5048G>C (p.Arg1683Pro)
n.5060G>C
c.4814G>C (p.Arg1605Pro)
c.5063G>C (p.Arg1688Pro)
Yg.12833714G=CA2470560447USP9Yc.5048G= (p.Arg1683=)
n.5060G=
c.4814G= (p.Arg1605=)
c.5063G= (p.Arg1688=)
Yg.12833714G>TCA414998712USP9Yc.5048G>T (p.Arg1683Leu)
n.5060G>T
c.4814G>T (p.Arg1605Leu)
c.5063G>T (p.Arg1688Leu)
Yg.12833715T>ACA519901515USP9Yc.5049T>A (p.Arg1683=)
n.5061T>A
c.4815T>A (p.Arg1605=)
c.5064T>A (p.Arg1688=)
Yg.12833715T>CCA519901517USP9Yc.5049T>C (p.Arg1683=)
n.5061T>C
c.4815T>C (p.Arg1605=)
c.5064T>C (p.Arg1688=)
Yg.12833715T>GCA519901518USP9Yc.5049T>G (p.Arg1683=)
n.5061T>G
c.4815T>G (p.Arg1605=)
c.5064T>G (p.Arg1688=)
Yg.12833716G>ACA414998714USP9Yc.5050G>A (p.Glu1684Lys)
n.5062G>A
c.4816G>A (p.Glu1606Lys)
c.5065G>A (p.Glu1689Lys)
Yg.12833716G>CCA414998716USP9Yc.5050G>C (p.Glu1684Gln)
n.5062G>C
c.4816G>C (p.Glu1606Gln)
c.5065G>C (p.Glu1689Gln)
Yg.12833716G>TCA414998718USP9Yc.5050G>T (p.Glu1684Ter)
n.5062G>T
c.4816G>T (p.Glu1606Ter)
c.5065G>T (p.Glu1689Ter)
Yg.12833717A>CCA414998724USP9Yc.5051A>C (p.Glu1684Ala)
n.5063A>C
c.4817A>C (p.Glu1606Ala)
c.5066A>C (p.Glu1689Ala)
Yg.12833717A>GCA414998720USP9Yc.5051A>G (p.Glu1684Gly)
n.5063A>G
c.4817A>G (p.Glu1606Gly)
c.5066A>G (p.Glu1689Gly)
Yg.12833717A>TCA414998722USP9Yc.5051A>T (p.Glu1684Val)
n.5063A>T
c.4817A>T (p.Glu1606Val)
c.5066A>T (p.Glu1689Val)
Yg.12833718A>CCA414998726USP9Yc.5052A>C (p.Glu1684Asp)
n.5064A>C
c.4818A>C (p.Glu1606Asp)
c.5067A>C (p.Glu1689Asp)
Yg.12833718A>GCA519901528USP9Yc.5052A>G (p.Glu1684=)
n.5064A>G
c.4818A>G (p.Glu1606=)
c.5067A>G (p.Glu1689=)
Yg.12833718A>TCA414998728USP9Yc.5052A>T (p.Glu1684Asp)
n.5064A>T
c.4818A>T (p.Glu1606Asp)
c.5067A>T (p.Glu1689Asp)
Yg.12833719C>ACA414998730USP9Yc.5053C>A (p.Gln1685Lys)
n.5065C>A
c.4819C>A (p.Gln1607Lys)
c.5068C>A (p.Gln1690Lys)
Yg.12833719C>GCA414998732USP9Yc.5053C>G (p.Gln1685Glu)
n.5065C>G
c.4819C>G (p.Gln1607Glu)
c.5068C>G (p.Gln1690Glu)
Yg.12833719C>TCA414998734USP9Yc.5053C>T (p.Gln1685Ter)
n.5065C>T
c.4819C>T (p.Gln1607Ter)
c.5068C>T (p.Gln1690Ter)
Yg.12833720A=CA2470560448USP9Yc.5054A= (p.Gln1685=)
n.5066A=
c.4820A= (p.Gln1607=)
c.5069A= (p.Gln1690=)
Yg.12833720A>CCA414998736USP9Yc.5054A>C (p.Gln1685Pro)
n.5066A>C
c.4820A>C (p.Gln1607Pro)
c.5069A>C (p.Gln1690Pro)
Yg.12833720A>GCA337720910USP9Yc.5054A>G (p.Gln1685Arg)
n.5066A>G
c.4820A>G (p.Gln1607Arg)
c.5069A>G (p.Gln1690Arg)
dbSNP
Yg.12833720A>TCA414998738USP9Yc.5054A>T (p.Gln1685Leu)
n.5066A>T
c.4820A>T (p.Gln1607Leu)
c.5069A>T (p.Gln1690Leu)
Yg.12833721A>CCA414998740USP9Yc.5055A>C (p.Gln1685His)
n.5067A>C
c.4821A>C (p.Gln1607His)
c.5070A>C (p.Gln1690His)
Yg.12833721A>GCA519901538USP9Yc.5055A>G (p.Gln1685=)
n.5067A>G
c.4821A>G (p.Gln1607=)
c.5070A>G (p.Gln1690=)
Yg.12833721A>TCA414998742USP9Yc.5055A>T (p.Gln1685His)
n.5067A>T
c.4821A>T (p.Gln1607His)
c.5070A>T (p.Gln1690His)
Yg.12833722C>ACA414998745USP9Yc.5056C>A (p.His1686Asn)
n.5068C>A
c.4822C>A (p.His1608Asn)
c.5071C>A (p.His1691Asn)
Yg.12833722C>GCA414998749USP9Yc.5056C>G (p.His1686Asp)
n.5068C>G
c.4822C>G (p.His1608Asp)
c.5071C>G (p.His1691Asp)
Yg.12833722C>TCA414998746USP9Yc.5056C>T (p.His1686Tyr)
n.5068C>T
c.4822C>T (p.His1608Tyr)
c.5071C>T (p.His1691Tyr)
Yg.12833723A>CCA414998751USP9Yc.5057A>C (p.His1686Pro)
n.5069A>C
c.4823A>C (p.His1608Pro)
c.5072A>C (p.His1691Pro)
Yg.12833723A>GCA414998755USP9Yc.5057A>G (p.His1686Arg)
n.5069A>G
c.4823A>G (p.His1608Arg)
c.5072A>G (p.His1691Arg)
Yg.12833723A>TCA414998753USP9Yc.5057A>T (p.His1686Leu)
n.5069A>T
c.4823A>T (p.His1608Leu)
c.5072A>T (p.His1691Leu)
Yg.12833724T>ACA414998756USP9Yc.5058T>A (p.His1686Gln)
n.5070T>A
c.4824T>A (p.His1608Gln)
c.5073T>A (p.His1691Gln)
Yg.12833724T>CCA519901548USP9Yc.5058T>C (p.His1686=)
n.5070T>C
c.4824T>C (p.His1608=)
c.5073T>C (p.His1691=)
Yg.12833724T>GCA414998758USP9Yc.5058T>G (p.His1686Gln)
n.5070T>G
c.4824T>G (p.His1608Gln)
c.5073T>G (p.His1691Gln)
Yg.12833725G>ACA414998760USP9Yc.5059G>A (p.Asp1687Asn)
n.5071G>A
c.4825G>A (p.Asp1609Asn)
c.5074G>A (p.Asp1692Asn)
Yg.12833725G>CCA414998764USP9Yc.5059G>C (p.Asp1687His)
n.5071G>C
c.4825G>C (p.Asp1609His)
c.5074G>C (p.Asp1692His)
Yg.12833725G>TCA414998762USP9Yc.5059G>T (p.Asp1687Tyr)
n.5071G>T
c.4825G>T (p.Asp1609Tyr)
c.5074G>T (p.Asp1692Tyr)
Yg.12833726A>CCA414998766USP9Yc.5060A>C (p.Asp1687Ala)
n.5072A>C
c.4826A>C (p.Asp1609Ala)
c.5075A>C (p.Asp1692Ala)
Yg.12833726A>GCA414998770USP9Yc.5060A>G (p.Asp1687Gly)
n.5072A>G
c.4826A>G (p.Asp1609Gly)
c.5075A>G (p.Asp1692Gly)
Yg.12833726A>TCA414998768USP9Yc.5060A>T (p.Asp1687Val)
n.5072A>T
c.4826A>T (p.Asp1609Val)
c.5075A>T (p.Asp1692Val)
Yg.12833727T>ACA414998772USP9Yc.5061T>A (p.Asp1687Glu)
n.5073T>A
c.4827T>A (p.Asp1609Glu)
c.5076T>A (p.Asp1692Glu)
Yg.12833727T>CCA519901555USP9Yc.5061T>C (p.Asp1687=)
n.5073T>C
c.4827T>C (p.Asp1609=)
c.5076T>C (p.Asp1692=)
Yg.12833727T>GCA414998774USP9Yc.5061T>G (p.Asp1687Glu)
n.5073T>G
c.4827T>G (p.Asp1609Glu)
c.5076T>G (p.Asp1692Glu)
Yg.12833728G>ACA414998776USP9Yc.5062G>A (p.Ala1688Thr)
n.5074G>A
c.4828G>A (p.Ala1610Thr)
c.5077G>A (p.Ala1693Thr)
Yg.12833728G>CCA414998778USP9Yc.5062G>C (p.Ala1688Pro)
n.5074G>C
c.4828G>C (p.Ala1610Pro)
c.5077G>C (p.Ala1693Pro)
Yg.12833728G>TCA414998780USP9Yc.5062G>T (p.Ala1688Ser)
n.5074G>T
c.4828G>T (p.Ala1610Ser)
c.5077G>T (p.Ala1693Ser)
Yg.12833729C>ACA414998781USP9Yc.5063C>A (p.Ala1688Asp)
n.5075C>A
c.4829C>A (p.Ala1610Asp)
c.5078C>A (p.Ala1693Asp)
Yg.12833729C>GCA414998783USP9Yc.5063C>G (p.Ala1688Gly)
n.5075C>G
c.4829C>G (p.Ala1610Gly)
c.5078C>G (p.Ala1693Gly)
Yg.12833729C>TCA414998786USP9Yc.5063C>T (p.Ala1688Val)
n.5075C>T
c.4829C>T (p.Ala1610Val)
c.5078C>T (p.Ala1693Val)
Yg.12833730C>ACA519901565USP9Yc.5064C>A (p.Ala1688=)
n.5076C>A
c.4830C>A (p.Ala1610=)
c.5079C>A (p.Ala1693=)
Yg.12833730C>GCA519901567USP9Yc.5064C>G (p.Ala1688=)
n.5076C>G
c.4830C>G (p.Ala1610=)
c.5079C>G (p.Ala1693=)
Yg.12833730C>TCA519901569USP9Yc.5064C>T (p.Ala1688=)
n.5076C>T
c.4830C>T (p.Ala1610=)
c.5079C>T (p.Ala1693=)
Yg.12833731T>ACA414998788USP9Yc.5065T>A (p.Leu1689Ile)
n.5077T>A
c.4831T>A (p.Leu1611Ile)
c.5080T>A (p.Leu1694Ile)
Yg.12833731T>CCA519901572USP9Yc.5065T>C (p.Leu1689=)
n.5077T>C
c.4831T>C (p.Leu1611=)
c.5080T>C (p.Leu1694=)
Yg.12833731T>GCA414998790USP9Yc.5065T>G (p.Leu1689Val)
n.5077T>G
c.4831T>G (p.Leu1611Val)
c.5080T>G (p.Leu1694Val)
Yg.12833732T>ACA414998796USP9Yc.5066T>A (p.Leu1689Ter)
n.5078T>A
c.4832T>A (p.Leu1611Ter)
c.5081T>A (p.Leu1694Ter)
Yg.12833732T>CCA414998792USP9Yc.5066T>C (p.Leu1689Ser)
n.5078T>C
c.4832T>C (p.Leu1611Ser)
c.5081T>C (p.Leu1694Ser)
Yg.12833732T>GCA414998794USP9Yc.5066T>G (p.Leu1689Ter)
n.5078T>G
c.4832T>G (p.Leu1611Ter)
c.5081T>G (p.Leu1694Ter)
Yg.12833732_12833734delinsTAGCA2470560449USP9Yc.5066_5068delinsTAG (p.Leu1689=)
n.5078_5080delinsTAG
c.4832_4834delinsTAG (p.Leu1611=)
c.5081_5083delinsTAG (p.Leu1694=)
Yg.12833733A>CCA414998798USP9Yc.5067A>C (p.Leu1689Phe)
n.5079A>C
c.4833A>C (p.Leu1611Phe)
c.5082A>C (p.Leu1694Phe)
Yg.12833733A>GCA519901582USP9Yc.5067A>G (p.Leu1689=)
n.5079A>G
c.4833A>G (p.Leu1611=)
c.5082A>G (p.Leu1694=)
Yg.12833733A>TCA414998800USP9Yc.5067A>T (p.Leu1689Phe)
n.5079A>T
c.4833A>T (p.Leu1611Phe)
c.5082A>T (p.Leu1694Phe)
Yg.12833735_12833736delCA10573379USP9Yc.5069_5070del (p.Glu1690ValfsTer3)
n.5081_5082del
c.4835_4836del (p.Glu1612ValfsTer3)
c.5084_5085del (p.Glu1695ValfsTer3)
dbSNP ExAC gnomAD v2
Yg.12833734G>ACA414998803USP9Yc.5068G>A (p.Glu1690Lys)
n.5080G>A
c.4834G>A (p.Glu1612Lys)
c.5083G>A (p.Glu1695Lys)
Yg.12833734G>CCA414998805USP9Yc.5068G>C (p.Glu1690Gln)
n.5080G>C
c.4834G>C (p.Glu1612Gln)
c.5083G>C (p.Glu1695Gln)
Yg.12833734G>TCA414998807USP9Yc.5068G>T (p.Glu1690Ter)
n.5080G>T
c.4834G>T (p.Glu1612Ter)
c.5083G>T (p.Glu1695Ter)

Number of alleles fetched