Chr Mutation (hg38) CAid Gene Transcript Linkouts
Yg.12846301_12846302insTTTTTTTTTTTTTTTCA2824887235USP9Yc.6569-32_6569-31insTTTTTTTTTTTTTTT (n.6569-32_6569-31insTTTTTTTTTTTTTTT)
n.6596-32_6596-31insTTTTTTTTTTTTTTT
c.6335-32_6335-31insTTTTTTTTTTTTTTT (n.6335-32_6335-31insTTTTTTTTTTTTTTT)
c.6584-32_6584-31insTTTTTTTTTTTTTTT (n.6584-32_6584-31insTTTTTTTTTTTTTTT)
Yg.12846301dupCA337721103USP9Yc.6569-32dup (n.6569-32dup)
n.6596-32dup
c.6335-32dup (n.6335-32dup)
c.6584-32dup (n.6584-32dup)
dbSNP gnomAD v3 gnomAD v4
Yg.12846300_12846301dupCA2824887236USP9Yc.6569-33_6569-32dup (n.6569-33_6569-32dup)
n.6596-33_6596-32dup
c.6335-33_6335-32dup (n.6335-33_6335-32dup)
c.6584-33_6584-32dup (n.6584-33_6584-32dup)
Yg.12846301delCA337721104USP9Yc.6569-32del (n.6569-32del)
n.6596-32del
c.6335-32del (n.6335-32del)
c.6584-32del (n.6584-32del)
dbSNP
Yg.12846294T>CCA10573494USP9Yc.6569-39T>C (n.6569-39T>C)
n.6596-39T>C
c.6335-39T>C (n.6335-39T>C)
c.6584-39T>C (n.6584-39T>C)
dbSNP ExAC gnomAD v2
Yg.12846294T=CA2470561138USP9Yc.6569-39T= (n.6569-39T=)
n.6596-39T=
c.6335-39T= (n.6335-39T=)
c.6584-39T= (n.6584-39T=)
Yg.12846299T>ACA2824887239USP9Yc.6569-34T>A (n.6569-34T>A)
n.6596-34T>A
c.6335-34T>A (n.6335-34T>A)
c.6584-34T>A (n.6584-34T>A)
Yg.12846299T>GCA645286644USP9Yc.6569-34T>G (n.6569-34T>G)
n.6596-34T>G
c.6335-34T>G (n.6335-34T>G)
c.6584-34T>G (n.6584-34T>G)
dbSNP gnomAD v2
Yg.12846299T=CA2470561139USP9Yc.6569-34T= (n.6569-34T=)
n.6596-34T=
c.6335-34T= (n.6335-34T=)
c.6584-34T= (n.6584-34T=)
Yg.12846301T>CCA10573495USP9Yc.6569-32T>C (n.6569-32T>C)
n.6596-32T>C
c.6335-32T>C (n.6335-32T>C)
c.6584-32T>C (n.6584-32T>C)
dbSNP ExAC gnomAD v2
Yg.12846301T=CA2470561140USP9Yc.6569-32T= (n.6569-32T=)
n.6596-32T=
c.6335-32T= (n.6335-32T=)
c.6584-32T= (n.6584-32T=)
Yg.12846302C=CA2470561141USP9Yc.6569-31C= (n.6569-31C=)
n.6596-31C=
c.6335-31C= (n.6335-31C=)
c.6584-31C= (n.6584-31C=)
Yg.12846302C>TCA645286645USP9Yc.6569-31C>T (n.6569-31C>T)
n.6596-31C>T
c.6335-31C>T (n.6335-31C>T)
c.6584-31C>T (n.6584-31C>T)
dbSNP gnomAD v2
Yg.12846302dupCA2579748157USP9Yc.6569-31dup (n.6569-31dup)
n.6596-31dup
c.6335-31dup (n.6335-31dup)
c.6584-31dup (n.6584-31dup)
Yg.12846304A=CA2470561142USP9Yc.6569-29A= (n.6569-29A=)
n.6596-29A=
c.6335-29A= (n.6335-29A=)
c.6584-29A= (n.6584-29A=)
Yg.12846304A>GCA2766242291USP9Yc.6569-29A>G (n.6569-29A>G)
n.6596-29A>G
c.6335-29A>G (n.6335-29A>G)
c.6584-29A>G (n.6584-29A>G)
Yg.12846304A>TCA1139769380USP9Yc.6569-29A>T (n.6569-29A>T)
n.6596-29A>T
c.6335-29A>T (n.6335-29A>T)
c.6584-29A>T (n.6584-29A>T)
dbSNP
Yg.12846305C>ACA2579748158USP9Yc.6569-28C>A (n.6569-28C>A)
n.6596-28C>A
c.6335-28C>A (n.6335-28C>A)
c.6584-28C>A (n.6584-28C>A)
Yg.12846305C=CA2470561143USP9Yc.6569-28C= (n.6569-28C=)
n.6596-28C=
c.6335-28C= (n.6335-28C=)
c.6584-28C= (n.6584-28C=)
Yg.12846305C>GCA645286646USP9Yc.6569-28C>G (n.6569-28C>G)
n.6596-28C>G
c.6335-28C>G (n.6335-28C>G)
c.6584-28C>G (n.6584-28C>G)
dbSNP gnomAD v2
Yg.12846305C>TCA645286647USP9Yc.6569-28C>T (n.6569-28C>T)
n.6596-28C>T
c.6335-28C>T (n.6335-28C>T)
c.6584-28C>T (n.6584-28C>T)
dbSNP gnomAD v2
Yg.12846306A=CA2470561144USP9Yc.6569-27A= (n.6569-27A=)
n.6596-27A=
c.6335-27A= (n.6335-27A=)
c.6584-27A= (n.6584-27A=)
Yg.12846306A>GCA2564705206USP9Yc.6569-27A>G (n.6569-27A>G)
n.6596-27A>G
c.6335-27A>G (n.6335-27A>G)
c.6584-27A>G (n.6584-27A>G)
Yg.12846306A>TCA2470561145USP9Yc.6569-27A>T (n.6569-27A>T)
n.6596-27A>T
c.6335-27A>T (n.6335-27A>T)
c.6584-27A>T (n.6584-27A>T)
dbSNP
Yg.12846308A=CA2470561146USP9Yc.6569-25A= (n.6569-25A=)
n.6596-25A=
c.6335-25A= (n.6335-25A=)
c.6584-25A= (n.6584-25A=)
Yg.12846308A>GCA2579748159USP9Yc.6569-25A>G (n.6569-25A>G)
n.6596-25A>G
c.6335-25A>G (n.6335-25A>G)
c.6584-25A>G (n.6584-25A>G)
Yg.12846308A>TCA2470561147USP9Yc.6569-25A>T (n.6569-25A>T)
n.6596-25A>T
c.6335-25A>T (n.6335-25A>T)
c.6584-25A>T (n.6584-25A>T)
dbSNP
Yg.12846311A>TCA2824887240USP9Yc.6569-22A>T (n.6569-22A>T)
n.6596-22A>T
c.6335-22A>T (n.6335-22A>T)
c.6584-22A>T (n.6584-22A>T)
Yg.12846316delCA2579748160USP9Yc.6569-17del (n.6569-17del)
n.6596-17del
c.6335-17del (n.6335-17del)
c.6584-17del (n.6584-17del)
Yg.12846317C>TCA2824887241USP9Yc.6569-16C>T (n.6569-16C>T)
n.6596-16C>T
c.6335-16C>T (n.6335-16C>T)
c.6584-16C>T (n.6584-16C>T)
Yg.12846319G>TCA2520395028USP9Yc.6569-14G>T (n.6569-14G>T)
n.6596-14G>T
c.6335-14G>T (n.6335-14G>T)
c.6584-14G>T (n.6584-14G>T)
Yg.12846323T>CCA2470561149USP9Yc.6569-10T>C (n.6569-10T>C)
n.6596-10T>C
c.6335-10T>C (n.6335-10T>C)
c.6584-10T>C (n.6584-10T>C)
dbSNP
Yg.12846323T=CA2470561148USP9Yc.6569-10T= (n.6569-10T=)
n.6596-10T=
c.6335-10T= (n.6335-10T=)
c.6584-10T= (n.6584-10T=)
Yg.12846328delCA2502670597USP9Yc.6569-5del (n.6569-5del)
n.6596-5del
c.6335-5del (n.6335-5del)
c.6584-5del (n.6584-5del)
Yg.12846324T>GCA645286648USP9Yc.6569-9T>G (n.6569-9T>G)
n.6596-9T>G
c.6335-9T>G (n.6335-9T>G)
c.6584-9T>G (n.6584-9T>G)
dbSNP gnomAD v2
Yg.12846324T=CA2470561150USP9Yc.6569-9T= (n.6569-9T=)
n.6596-9T=
c.6335-9T= (n.6335-9T=)
c.6584-9T= (n.6584-9T=)
Yg.12846327T>GCA2766242292USP9Yc.6569-6T>G (n.6569-6T>G)
n.6596-6T>G
c.6335-6T>G (n.6335-6T>G)
c.6584-6T>G (n.6584-6T>G)
Yg.12846328T>CCA2824887242USP9Yc.6569-5T>C (n.6569-5T>C)
n.6596-5T>C
c.6335-5T>C (n.6335-5T>C)
c.6584-5T>C (n.6584-5T>C)
Yg.12846331A>CCA415007243USP9Yc.6569-2A>C (n.6569-2A>C)
n.6596-2A>C
c.6335-2A>C (n.6335-2A>C)
c.6584-2A>C (n.6584-2A>C)
Yg.12846331A>GCA415007246USP9Yc.6569-2A>G (n.6569-2A>G)
n.6596-2A>G
c.6335-2A>G (n.6335-2A>G)
c.6584-2A>G (n.6584-2A>G)
Yg.12846331A>TCA415007249USP9Yc.6569-2A>T (n.6569-2A>T)
n.6596-2A>T
c.6335-2A>T (n.6335-2A>T)
c.6584-2A>T (n.6584-2A>T)
Yg.12846332G>ACA415007254USP9Yc.6569-1G>A (n.6569-1G>A)
n.6596-1G>A
c.6335-1G>A (n.6335-1G>A)
c.6584-1G>A (n.6584-1G>A)
Yg.12846332G>CCA415007253USP9Yc.6569-1G>C (n.6569-1G>C)
n.6596-1G>C
c.6335-1G>C (n.6335-1G>C)
c.6584-1G>C (n.6584-1G>C)
Yg.12846332G>TCA415007252USP9Yc.6569-1G>T (n.6569-1G>T)
n.6596-1G>T
c.6335-1G>T (n.6335-1G>T)
c.6584-1G>T (n.6584-1G>T)
Yg.12846333G>ACA415007256USP9Yc.6569G>A (p.Gly2190Asp)
n.6596G>A
c.6335G>A (p.Gly2112Asp)
c.6584G>A (p.Gly2195Asp)
Yg.12846333G>CCA415007259USP9Yc.6569G>C (p.Gly2190Ala)
n.6596G>C
c.6335G>C (p.Gly2112Ala)
c.6584G>C (p.Gly2195Ala)
Yg.12846333G>TCA415007261USP9Yc.6569G>T (p.Gly2190Val)
n.6596G>T
c.6335G>T (p.Gly2112Val)
c.6584G>T (p.Gly2195Val)
Yg.12846334T>ACA519905872USP9Yc.6570T>A (p.Gly2190=)
n.6597T>A
c.6336T>A (p.Gly2112=)
c.6585T>A (p.Gly2195=)
Yg.12846334T>CCA519905873USP9Yc.6570T>C (p.Gly2190=)
n.6597T>C
c.6336T>C (p.Gly2112=)
c.6585T>C (p.Gly2195=)
Yg.12846334T>GCA519905874USP9Yc.6570T>G (p.Gly2190=)
n.6597T>G
c.6336T>G (p.Gly2112=)
c.6585T>G (p.Gly2195=)
Yg.12846335G>ACA415007262USP9Yc.6571G>A (p.Val2191Met)
n.6598G>A
c.6337G>A (p.Val2113Met)
c.6586G>A (p.Val2196Met)
Yg.12846335G>CCA415007265USP9Yc.6571G>C (p.Val2191Leu)
n.6598G>C
c.6337G>C (p.Val2113Leu)
c.6586G>C (p.Val2196Leu)
Yg.12846335G>TCA415007268USP9Yc.6571G>T (p.Val2191Leu)
n.6598G>T
c.6337G>T (p.Val2113Leu)
c.6586G>T (p.Val2196Leu)
Yg.12846336T>ACA415007271USP9Yc.6572T>A (p.Val2191Glu)
n.6599T>A
c.6338T>A (p.Val2113Glu)
c.6587T>A (p.Val2196Glu)
Yg.12846336T>CCA415007274USP9Yc.6572T>C (p.Val2191Ala)
n.6599T>C
c.6338T>C (p.Val2113Ala)
c.6587T>C (p.Val2196Ala)
Yg.12846336T>GCA415007272USP9Yc.6572T>G (p.Val2191Gly)
n.6599T>G
c.6338T>G (p.Val2113Gly)
c.6587T>G (p.Val2196Gly)
Yg.12846337G>ACA519905875USP9Yc.6573G>A (p.Val2191=)
n.6600G>A
c.6339G>A (p.Val2113=)
c.6588G>A (p.Val2196=)
Yg.12846337G>CCA519905876USP9Yc.6573G>C (p.Val2191=)
n.6600G>C
c.6339G>C (p.Val2113=)
c.6588G>C (p.Val2196=)
Yg.12846337G>TCA519905877USP9Yc.6573G>T (p.Val2191=)
n.6600G>T
c.6339G>T (p.Val2113=)
c.6588G>T (p.Val2196=)
Yg.12846338G>ACA415007277USP9Yc.6574G>A (p.Ala2192Thr)
n.6601G>A
c.6340G>A (p.Ala2114Thr)
c.6589G>A (p.Ala2197Thr)
Yg.12846338G>CCA415007279USP9Yc.6574G>C (p.Ala2192Pro)
n.6601G>C
c.6340G>C (p.Ala2114Pro)
c.6589G>C (p.Ala2197Pro)
Yg.12846338G>TCA415007281USP9Yc.6574G>T (p.Ala2192Ser)
n.6601G>T
c.6340G>T (p.Ala2114Ser)
c.6589G>T (p.Ala2197Ser)
Yg.12846339C>ACA415007283USP9Yc.6575C>A (p.Ala2192Glu)
n.6602C>A
c.6341C>A (p.Ala2114Glu)
c.6590C>A (p.Ala2197Glu)
Yg.12846339C>GCA415007285USP9Yc.6575C>G (p.Ala2192Gly)
n.6602C>G
c.6341C>G (p.Ala2114Gly)
c.6590C>G (p.Ala2197Gly)
Yg.12846339C>TCA415007288USP9Yc.6575C>T (p.Ala2192Val)
n.6602C>T
c.6341C>T (p.Ala2114Val)
c.6590C>T (p.Ala2197Val)
Yg.12846340A>CCA519905878USP9Yc.6576A>C (p.Ala2192=)
n.6603A>C
c.6342A>C (p.Ala2114=)
c.6591A>C (p.Ala2197=)
Yg.12846340A>GCA519905879USP9Yc.6576A>G (p.Ala2192=)
n.6603A>G
c.6342A>G (p.Ala2114=)
c.6591A>G (p.Ala2197=)
Yg.12846340A>TCA519905880USP9Yc.6576A>T (p.Ala2192=)
n.6603A>T
c.6342A>T (p.Ala2114=)
c.6591A>T (p.Ala2197=)
Yg.12846341G>ACA415007292USP9Yc.6577G>A (p.Glu2193Lys)
n.6604G>A
c.6343G>A (p.Glu2115Lys)
c.6592G>A (p.Glu2198Lys)
Yg.12846341G>CCA415007293USP9Yc.6577G>C (p.Glu2193Gln)
n.6604G>C
c.6343G>C (p.Glu2115Gln)
c.6592G>C (p.Glu2198Gln)
Yg.12846341G>TCA415007295USP9Yc.6577G>T (p.Glu2193Ter)
n.6604G>T
c.6343G>T (p.Glu2115Ter)
c.6592G>T (p.Glu2198Ter)
Yg.12846342A>CCA415007297USP9Yc.6578A>C (p.Glu2193Ala)
n.6605A>C
c.6344A>C (p.Glu2115Ala)
c.6593A>C (p.Glu2198Ala)
Yg.12846342A>GCA415007298USP9Yc.6578A>G (p.Glu2193Gly)
n.6605A>G
c.6344A>G (p.Glu2115Gly)
c.6593A>G (p.Glu2198Gly)
Yg.12846342A>TCA415007300USP9Yc.6578A>T (p.Glu2193Val)
n.6605A>T
c.6344A>T (p.Glu2115Val)
c.6593A>T (p.Glu2198Val)
Yg.12846347dupCA2766242293USP9Yc.6583dup (p.Thr2195AsnfsTer?)
n.6610dup
c.6349dup (p.Thr2117AsnfsTer?)
c.6598dup (p.Thr2200AsnfsTer?)
Yg.12846343A>CCA415007304USP9Yc.6579A>C (p.Glu2193Asp)
n.6606A>C
c.6345A>C (p.Glu2115Asp)
c.6594A>C (p.Glu2198Asp)
Yg.12846343A>GCA519905881USP9Yc.6579A>G (p.Glu2193=)
n.6606A>G
c.6345A>G (p.Glu2115=)
c.6594A>G (p.Glu2198=)
Yg.12846343A>TCA415007306USP9Yc.6579A>T (p.Glu2193Asp)
n.6606A>T
c.6345A>T (p.Glu2115Asp)
c.6594A>T (p.Glu2198Asp)
Yg.12846344A>CCA415007308USP9Yc.6580A>C (p.Lys2194Gln)
n.6607A>C
c.6346A>C (p.Lys2116Gln)
c.6595A>C (p.Lys2199Gln)
Yg.12846344A>GCA415007313USP9Yc.6580A>G (p.Lys2194Glu)
n.6607A>G
c.6346A>G (p.Lys2116Glu)
c.6595A>G (p.Lys2199Glu)
Yg.12846344A>TCA415007310USP9Yc.6580A>T (p.Lys2194Ter)
n.6607A>T
c.6346A>T (p.Lys2116Ter)
c.6595A>T (p.Lys2199Ter)
Yg.12846345A>CCA415007314USP9Yc.6581A>C (p.Lys2194Thr)
n.6608A>C
c.6347A>C (p.Lys2116Thr)
c.6596A>C (p.Lys2199Thr)
Yg.12846345A>GCA415007317USP9Yc.6581A>G (p.Lys2194Arg)
n.6608A>G
c.6347A>G (p.Lys2116Arg)
c.6596A>G (p.Lys2199Arg)
Yg.12846345A>TCA415007318USP9Yc.6581A>T (p.Lys2194Ile)
n.6608A>T
c.6347A>T (p.Lys2116Ile)
c.6596A>T (p.Lys2199Ile)
Yg.12846346A>CCA415007320USP9Yc.6582A>C (p.Lys2194Asn)
n.6609A>C
c.6348A>C (p.Lys2116Asn)
c.6597A>C (p.Lys2199Asn)
Yg.12846346A>GCA519905882USP9Yc.6582A>G (p.Lys2194=)
n.6609A>G
c.6348A>G (p.Lys2116=)
c.6597A>G (p.Lys2199=)
Yg.12846346A>TCA415007323USP9Yc.6582A>T (p.Lys2194Asn)
n.6609A>T
c.6348A>T (p.Lys2116Asn)
c.6597A>T (p.Lys2199Asn)
Yg.12846347A>CCA415007324USP9Yc.6583A>C (p.Thr2195Pro)
n.6610A>C
c.6349A>C (p.Thr2117Pro)
c.6598A>C (p.Thr2200Pro)
Yg.12846347A>GCA415007325USP9Yc.6583A>G (p.Thr2195Ala)
n.6610A>G
c.6349A>G (p.Thr2117Ala)
c.6598A>G (p.Thr2200Ala)
Yg.12846347A>TCA415007328USP9Yc.6583A>T (p.Thr2195Ser)
n.6610A>T
c.6349A>T (p.Thr2117Ser)
c.6598A>T (p.Thr2200Ser)
Yg.12846348C>ACA415007332USP9Yc.6584C>A (p.Thr2195Lys)
n.6611C>A
c.6350C>A (p.Thr2117Lys)
c.6599C>A (p.Thr2200Lys)
Yg.12846348C>GCA415007333USP9Yc.6584C>G (p.Thr2195Arg)
n.6611C>G
c.6350C>G (p.Thr2117Arg)
c.6599C>G (p.Thr2200Arg)
Yg.12846348C>TCA415007337USP9Yc.6584C>T (p.Thr2195Ile)
n.6611C>T
c.6350C>T (p.Thr2117Ile)
c.6599C>T (p.Thr2200Ile)
Yg.12846349A>CCA519905883USP9Yc.6585A>C (p.Thr2195=)
n.6612A>C
c.6351A>C (p.Thr2117=)
c.6600A>C (p.Thr2200=)
Yg.12846349A>GCA519905885USP9Yc.6585A>G (p.Thr2195=)
n.6612A>G
c.6351A>G (p.Thr2117=)
c.6600A>G (p.Thr2200=)
Yg.12846349A>TCA519905884USP9Yc.6585A>T (p.Thr2195=)
n.6612A>T
c.6351A>T (p.Thr2117=)
c.6600A>T (p.Thr2200=)
Yg.12846350C>ACA415007341USP9Yc.6586C>A (p.Gln2196Lys)
n.6613C>A
c.6352C>A (p.Gln2118Lys)
c.6601C>A (p.Gln2201Lys)
Yg.12846350C=CA2470561151USP9Yc.6586C= (p.Gln2196=)
n.6613C=
c.6352C= (p.Gln2118=)
c.6601C= (p.Gln2201=)
Yg.12846350C>GCA415007338USP9Yc.6586C>G (p.Gln2196Glu)
n.6613C>G
c.6352C>G (p.Gln2118Glu)
c.6601C>G (p.Gln2201Glu)
dbSNP
Yg.12846350C>TCA415007340USP9Yc.6586C>T (p.Gln2196Ter)
n.6613C>T
c.6352C>T (p.Gln2118Ter)
c.6601C>T (p.Gln2201Ter)
Yg.12846351A>CCA415007343USP9Yc.6587A>C (p.Gln2196Pro)
n.6614A>C
c.6353A>C (p.Gln2118Pro)
c.6602A>C (p.Gln2201Pro)
Yg.12846351A>GCA415007345USP9Yc.6587A>G (p.Gln2196Arg)
n.6614A>G
c.6353A>G (p.Gln2118Arg)
c.6602A>G (p.Gln2201Arg)
Yg.12846351A>TCA415007347USP9Yc.6587A>T (p.Gln2196Leu)
n.6614A>T
c.6353A>T (p.Gln2118Leu)
c.6602A>T (p.Gln2201Leu)
Yg.12846352G>ACA519905889USP9Yc.6588G>A (p.Gln2196=)
n.6615G>A
c.6354G>A (p.Gln2118=)
c.6603G>A (p.Gln2201=)
Yg.12846352G>CCA415007349USP9Yc.6588G>C (p.Gln2196His)
n.6615G>C
c.6354G>C (p.Gln2118His)
c.6603G>C (p.Gln2201His)
Yg.12846352G>TCA415007350USP9Yc.6588G>T (p.Gln2196His)
n.6615G>T
c.6354G>T (p.Gln2118His)
c.6603G>T (p.Gln2201His)
Yg.12846353C>ACA415007354USP9Yc.6589C>A (p.Leu2197Ile)
n.6616C>A
c.6355C>A (p.Leu2119Ile)
c.6604C>A (p.Leu2202Ile)
Yg.12846353C>GCA415007357USP9Yc.6589C>G (p.Leu2197Val)
n.6616C>G
c.6355C>G (p.Leu2119Val)
c.6604C>G (p.Leu2202Val)
Yg.12846353C>TCA415007359USP9Yc.6589C>T (p.Leu2197Phe)
n.6616C>T
c.6355C>T (p.Leu2119Phe)
c.6604C>T (p.Leu2202Phe)
Yg.12846354T>ACA415007360USP9Yc.6590T>A (p.Leu2197His)
n.6617T>A
c.6356T>A (p.Leu2119His)
c.6605T>A (p.Leu2202His)
Yg.12846354T>CCA415007362USP9Yc.6590T>C (p.Leu2197Pro)
n.6617T>C
c.6356T>C (p.Leu2119Pro)
c.6605T>C (p.Leu2202Pro)
Yg.12846354T>GCA415007364USP9Yc.6590T>G (p.Leu2197Arg)
n.6617T>G
c.6356T>G (p.Leu2119Arg)
c.6605T>G (p.Leu2202Arg)
Yg.12846355T>ACA519905892USP9Yc.6591T>A (p.Leu2197=)
n.6618T>A
c.6357T>A (p.Leu2119=)
c.6606T>A (p.Leu2202=)
Yg.12846355T>CCA519905894USP9Yc.6591T>C (p.Leu2197=)
n.6618T>C
c.6357T>C (p.Leu2119=)
c.6606T>C (p.Leu2202=)
Yg.12846355T>GCA519905895USP9Yc.6591T>G (p.Leu2197=)
n.6618T>G
c.6357T>G (p.Leu2119=)
c.6606T>G (p.Leu2202=)
Yg.12846356C>ACA415007366USP9Yc.6592C>A (p.Leu2198Met)
n.6619C>A
c.6358C>A (p.Leu2120Met)
c.6607C>A (p.Leu2203Met)
Yg.12846356C>GCA415007367USP9Yc.6592C>G (p.Leu2198Val)
n.6619C>G
c.6358C>G (p.Leu2120Val)
c.6607C>G (p.Leu2203Val)
Yg.12846356C>TCA519905896USP9Yc.6592C>T (p.Leu2198=)
n.6619C>T
c.6358C>T (p.Leu2120=)
c.6607C>T (p.Leu2203=)
Yg.12846357T>ACA415007369USP9Yc.6593T>A (p.Leu2198Gln)
n.6620T>A
c.6359T>A (p.Leu2120Gln)
c.6608T>A (p.Leu2203Gln)
Yg.12846357T>CCA415007371USP9Yc.6593T>C (p.Leu2198Pro)
n.6620T>C
c.6359T>C (p.Leu2120Pro)
c.6608T>C (p.Leu2203Pro)
Yg.12846357T>GCA415007372USP9Yc.6593T>G (p.Leu2198Arg)
n.6620T>G
c.6359T>G (p.Leu2120Arg)
c.6608T>G (p.Leu2203Arg)
Yg.12846358G>ACA519905897USP9Yc.6594G>A (p.Leu2198=)
n.6621G>A
c.6360G>A (p.Leu2120=)
c.6609G>A (p.Leu2203=)
dbSNP gnomAD v2
Yg.12846358G>CCA519905899USP9Yc.6594G>C (p.Leu2198=)
n.6621G>C
c.6360G>C (p.Leu2120=)
c.6609G>C (p.Leu2203=)
Yg.12846358G=CA2470561152USP9Yc.6594G= (p.Leu2198=)
n.6621G=
c.6360G= (p.Leu2120=)
c.6609G= (p.Leu2203=)
Yg.12846358G>TCA519905900USP9Yc.6594G>T (p.Leu2198=)
n.6621G>T
c.6360G>T (p.Leu2120=)
c.6609G>T (p.Leu2203=)
Yg.12846359A>CCA415007376USP9Yc.6595A>C (p.Lys2199Gln)
n.6622A>C
c.6361A>C (p.Lys2121Gln)
c.6610A>C (p.Lys2204Gln)
Yg.12846359A>GCA415007378USP9Yc.6595A>G (p.Lys2199Glu)
n.6622A>G
c.6361A>G (p.Lys2121Glu)
c.6610A>G (p.Lys2204Glu)
Yg.12846359A>TCA415007380USP9Yc.6595A>T (p.Lys2199Ter)
n.6622A>T
c.6361A>T (p.Lys2121Ter)
c.6610A>T (p.Lys2204Ter)
Yg.12846360A>CCA415007381USP9Yc.6596A>C (p.Lys2199Thr)
n.6623A>C
c.6362A>C (p.Lys2121Thr)
c.6611A>C (p.Lys2204Thr)
Yg.12846360A>GCA415007383USP9Yc.6596A>G (p.Lys2199Arg)
n.6623A>G
c.6362A>G (p.Lys2121Arg)
c.6611A>G (p.Lys2204Arg)
Yg.12846360A>TCA415007384USP9Yc.6596A>T (p.Lys2199Ile)
n.6623A>T
c.6362A>T (p.Lys2121Ile)
c.6611A>T (p.Lys2204Ile)
Yg.12846361A>CCA415007386USP9Yc.6597A>C (p.Lys2199Asn)
n.6624A>C
c.6363A>C (p.Lys2121Asn)
c.6612A>C (p.Lys2204Asn)
Yg.12846361A>GCA519905904USP9Yc.6597A>G (p.Lys2199=)
n.6624A>G
c.6363A>G (p.Lys2121=)
c.6612A>G (p.Lys2204=)
Yg.12846361A>TCA415007387USP9Yc.6597A>T (p.Lys2199Asn)
n.6624A>T
c.6363A>T (p.Lys2121Asn)
c.6612A>T (p.Lys2204Asn)
Yg.12846362T>ACA415007389USP9Yc.6598T>A (p.Leu2200Met)
n.6625T>A
c.6364T>A (p.Leu2122Met)
c.6613T>A (p.Leu2205Met)
Yg.12846362T>CCA519905905USP9Yc.6598T>C (p.Leu2200=)
n.6625T>C
c.6364T>C (p.Leu2122=)
c.6613T>C (p.Leu2205=)
dbSNP gnomAD v3 gnomAD v4
Yg.12846362T>GCA415007390USP9Yc.6598T>G (p.Leu2200Val)
n.6625T>G
c.6364T>G (p.Leu2122Val)
c.6613T>G (p.Leu2205Val)
Yg.12846362T=CA2470561153USP9Yc.6598T= (p.Leu2200=)
n.6625T=
c.6364T= (p.Leu2122=)
c.6613T= (p.Leu2205=)
Yg.12846363T>ACA415007391USP9Yc.6599T>A (p.Leu2200Ter)
n.6626T>A
c.6365T>A (p.Leu2122Ter)
c.6614T>A (p.Leu2205Ter)
Yg.12846363T>CCA415007393USP9Yc.6599T>C (p.Leu2200Ser)
n.6626T>C
c.6365T>C (p.Leu2122Ser)
c.6614T>C (p.Leu2205Ser)
Yg.12846363T>GCA415007392USP9Yc.6599T>G (p.Leu2200Trp)
n.6626T>G
c.6365T>G (p.Leu2122Trp)
c.6614T>G (p.Leu2205Trp)
Yg.12846364G>ACA519905907USP9Yc.6600G>A (p.Leu2200=)
n.6627G>A
c.6366G>A (p.Leu2122=)
c.6615G>A (p.Leu2205=)
Yg.12846364G>CCA415007394USP9Yc.6600G>C (p.Leu2200Phe)
n.6627G>C
c.6366G>C (p.Leu2122Phe)
c.6615G>C (p.Leu2205Phe)
Yg.12846364G>TCA415007396USP9Yc.6600G>T (p.Leu2200Phe)
n.6627G>T
c.6366G>T (p.Leu2122Phe)
c.6615G>T (p.Leu2205Phe)
Yg.12846365A>CCA415007398USP9Yc.6601A>C (p.Asn2201His)
n.6628A>C
c.6367A>C (p.Asn2123His)
c.6616A>C (p.Asn2206His)
Yg.12846365A>GCA415007399USP9Yc.6601A>G (p.Asn2201Asp)
n.6628A>G
c.6367A>G (p.Asn2123Asp)
c.6616A>G (p.Asn2206Asp)
Yg.12846365A>TCA415007402USP9Yc.6601A>T (p.Asn2201Tyr)
n.6628A>T
c.6367A>T (p.Asn2123Tyr)
c.6616A>T (p.Asn2206Tyr)
Yg.12846366A>CCA415007406USP9Yc.6602A>C (p.Asn2201Thr)
n.6629A>C
c.6368A>C (p.Asn2123Thr)
c.6617A>C (p.Asn2206Thr)
Yg.12846366A>GCA415007412USP9Yc.6602A>G (p.Asn2201Ser)
n.6629A>G
c.6368A>G (p.Asn2123Ser)
c.6617A>G (p.Asn2206Ser)
Yg.12846366A>TCA415007415USP9Yc.6602A>T (p.Asn2201Ile)
n.6629A>T
c.6368A>T (p.Asn2123Ile)
c.6617A>T (p.Asn2206Ile)
Yg.12846367T>ACA415007416USP9Yc.6603T>A (p.Asn2201Lys)
n.6630T>A
c.6369T>A (p.Asn2123Lys)
c.6618T>A (p.Asn2206Lys)
Yg.12846367T>CCA519905909USP9Yc.6603T>C (p.Asn2201=)
n.6630T>C
c.6369T>C (p.Asn2123=)
c.6618T>C (p.Asn2206=)
Yg.12846367T>GCA415007419USP9Yc.6603T>G (p.Asn2201Lys)
n.6630T>G
c.6369T>G (p.Asn2123Lys)
c.6618T>G (p.Asn2206Lys)
Yg.12846368G>ACA10573496USP9Yc.6604G>A (p.Val2202Ile)
n.6631G>A
c.6370G>A (p.Val2124Ile)
c.6619G>A (p.Val2207Ile)
dbSNP ExAC gnomAD v2
Yg.12846368G>CCA415007421USP9Yc.6604G>C (p.Val2202Leu)
n.6631G>C
c.6370G>C (p.Val2124Leu)
c.6619G>C (p.Val2207Leu)
Yg.12846368G=CA2470561154USP9Yc.6604G= (p.Val2202=)
n.6631G=
c.6370G= (p.Val2124=)
c.6619G= (p.Val2207=)
Yg.12846368G>TCA415007424USP9Yc.6604G>T (p.Val2202Leu)
n.6631G>T
c.6370G>T (p.Val2124Leu)
c.6619G>T (p.Val2207Leu)
Yg.12846369T>ACA415007434USP9Yc.6605T>A (p.Val2202Glu)
n.6632T>A
c.6371T>A (p.Val2124Glu)
c.6620T>A (p.Val2207Glu)
Yg.12846369T>CCA415007437USP9Yc.6605T>C (p.Val2202Ala)
n.6632T>C
c.6371T>C (p.Val2124Ala)
c.6620T>C (p.Val2207Ala)
Yg.12846369T>GCA415007439USP9Yc.6605T>G (p.Val2202Gly)
n.6632T>G
c.6371T>G (p.Val2124Gly)
c.6620T>G (p.Val2207Gly)
Yg.12846370A>CCA519905913USP9Yc.6606A>C (p.Val2202=)
n.6633A>C
c.6372A>C (p.Val2124=)
c.6621A>C (p.Val2207=)
Yg.12846370A>GCA519905912USP9Yc.6606A>G (p.Val2202=)
n.6633A>G
c.6372A>G (p.Val2124=)
c.6621A>G (p.Val2207=)
Yg.12846370A>TCA519905911USP9Yc.6606A>T (p.Val2202=)
n.6633A>T
c.6372A>T (p.Val2124=)
c.6621A>T (p.Val2207=)
Yg.12846371C>ACA415007442USP9Yc.6607C>A (p.Pro2203Thr)
n.6634C>A
c.6373C>A (p.Pro2125Thr)
c.6622C>A (p.Pro2208Thr)
Yg.12846371C>GCA415007443USP9Yc.6607C>G (p.Pro2203Ala)
n.6634C>G
c.6373C>G (p.Pro2125Ala)
c.6622C>G (p.Pro2208Ala)
Yg.12846371C>TCA415007446USP9Yc.6607C>T (p.Pro2203Ser)
n.6634C>T
c.6373C>T (p.Pro2125Ser)
c.6622C>T (p.Pro2208Ser)
Yg.12846372C>ACA415007454USP9Yc.6608C>A (p.Pro2203His)
n.6635C>A
c.6374C>A (p.Pro2125His)
c.6623C>A (p.Pro2208His)
Yg.12846372C>GCA415007452USP9Yc.6608C>G (p.Pro2203Arg)
n.6635C>G
c.6374C>G (p.Pro2125Arg)
c.6623C>G (p.Pro2208Arg)
Yg.12846372C>TCA415007449USP9Yc.6608C>T (p.Pro2203Leu)
n.6635C>T
c.6374C>T (p.Pro2125Leu)
c.6623C>T (p.Pro2208Leu)
Yg.12846373T>ACA519905915USP9Yc.6609T>A (p.Pro2203=)
n.6636T>A
c.6375T>A (p.Pro2125=)
c.6624T>A (p.Pro2208=)
Yg.12846373T>CCA519905916USP9Yc.6609T>C (p.Pro2203=)
n.6636T>C
c.6375T>C (p.Pro2125=)
c.6624T>C (p.Pro2208=)
Yg.12846373T>GCA519905917USP9Yc.6609T>G (p.Pro2203=)
n.6636T>G
c.6375T>G (p.Pro2125=)
c.6624T>G (p.Pro2208=)
Yg.12846374G>ACA415007457USP9Yc.6610G>A (p.Ala2204Thr)
n.6637G>A
c.6376G>A (p.Ala2126Thr)
c.6625G>A (p.Ala2209Thr)
Yg.12846374G>CCA415007460USP9Yc.6610G>C (p.Ala2204Pro)
n.6637G>C
c.6376G>C (p.Ala2126Pro)
c.6625G>C (p.Ala2209Pro)
Yg.12846374G>TCA415007464USP9Yc.6610G>T (p.Ala2204Ser)
n.6637G>T
c.6376G>T (p.Ala2126Ser)
c.6625G>T (p.Ala2209Ser)
Yg.12846375C>ACA415007466USP9Yc.6611C>A (p.Ala2204Asp)
n.6638C>A
c.6377C>A (p.Ala2126Asp)
c.6626C>A (p.Ala2209Asp)
Yg.12846375C>GCA415007467USP9Yc.6611C>G (p.Ala2204Gly)
n.6638C>G
c.6377C>G (p.Ala2126Gly)
c.6626C>G (p.Ala2209Gly)
Yg.12846375C>TCA415007470USP9Yc.6611C>T (p.Ala2204Val)
n.6638C>T
c.6377C>T (p.Ala2126Val)
c.6626C>T (p.Ala2209Val)
Yg.12846376T>ACA519905919USP9Yc.6612T>A (p.Ala2204=)
n.6639T>A
c.6378T>A (p.Ala2126=)
c.6627T>A (p.Ala2209=)
Yg.12846376T>CCA519905920USP9Yc.6612T>C (p.Ala2204=)
n.6639T>C
c.6378T>C (p.Ala2126=)
c.6627T>C (p.Ala2209=)
Yg.12846376T>GCA519905921USP9Yc.6612T>G (p.Ala2204=)
n.6639T>G
c.6378T>G (p.Ala2126=)
c.6627T>G (p.Ala2209=)
Yg.12846377A>CCA415007471USP9Yc.6613A>C (p.Thr2205Pro)
n.6640A>C
c.6379A>C (p.Thr2127Pro)
c.6628A>C (p.Thr2210Pro)
Yg.12846377A>GCA415007475USP9Yc.6613A>G (p.Thr2205Ala)
n.6640A>G
c.6379A>G (p.Thr2127Ala)
c.6628A>G (p.Thr2210Ala)
Yg.12846377A>TCA415007473USP9Yc.6613A>T (p.Thr2205Ser)
n.6640A>T
c.6379A>T (p.Thr2127Ser)
c.6628A>T (p.Thr2210Ser)
Yg.12846378C>ACA415007476USP9Yc.6614C>A (p.Thr2205Asn)
n.6641C>A
c.6380C>A (p.Thr2127Asn)
c.6629C>A (p.Thr2210Asn)
Yg.12846378C>GCA415007478USP9Yc.6614C>G (p.Thr2205Ser)
n.6641C>G
c.6380C>G (p.Thr2127Ser)
c.6629C>G (p.Thr2210Ser)
Yg.12846378C>TCA415007483USP9Yc.6614C>T (p.Thr2205Ile)
n.6641C>T
c.6380C>T (p.Thr2127Ile)
c.6629C>T (p.Thr2210Ile)
Yg.12846379C>ACA519905923USP9Yc.6615C>A (p.Thr2205=)
n.6642C>A
c.6381C>A (p.Thr2127=)
c.6630C>A (p.Thr2210=)
Yg.12846379C>GCA519905924USP9Yc.6615C>G (p.Thr2205=)
n.6642C>G
c.6381C>G (p.Thr2127=)
c.6630C>G (p.Thr2210=)
Yg.12846379C>TCA519905925USP9Yc.6615C>T (p.Thr2205=)
n.6642C>T
c.6381C>T (p.Thr2127=)
c.6630C>T (p.Thr2210=)
Yg.12846380T>ACA415007486USP9Yc.6616T>A (p.Phe2206Ile)
n.6643T>A
c.6382T>A (p.Phe2128Ile)
c.6631T>A (p.Phe2211Ile)
Yg.12846380T>CCA415007488USP9Yc.6616T>C (p.Phe2206Leu)
n.6643T>C
c.6382T>C (p.Phe2128Leu)
c.6631T>C (p.Phe2211Leu)
Yg.12846380T>GCA415007490USP9Yc.6616T>G (p.Phe2206Val)
n.6643T>G
c.6382T>G (p.Phe2128Val)
c.6631T>G (p.Phe2211Val)
Yg.12846381T>ACA415007493USP9Yc.6617T>A (p.Phe2206Tyr)
n.6644T>A
c.6383T>A (p.Phe2128Tyr)
c.6632T>A (p.Phe2211Tyr)
Yg.12846381T>CCA415007495USP9Yc.6617T>C (p.Phe2206Ser)
n.6644T>C
c.6383T>C (p.Phe2128Ser)
c.6632T>C (p.Phe2211Ser)
Yg.12846381T>GCA415007497USP9Yc.6617T>G (p.Phe2206Cys)
n.6644T>G
c.6383T>G (p.Phe2128Cys)
c.6632T>G (p.Phe2211Cys)
Yg.12846382T>ACA415007501USP9Yc.6618T>A (p.Phe2206Leu)
n.6645T>A
c.6384T>A (p.Phe2128Leu)
c.6633T>A (p.Phe2211Leu)
Yg.12846382T>CCA519905927USP9Yc.6618T>C (p.Phe2206=)
n.6645T>C
c.6384T>C (p.Phe2128=)
c.6633T>C (p.Phe2211=)
Yg.12846382T>GCA415007505USP9Yc.6618T>G (p.Phe2206Leu)
n.6645T>G
c.6384T>G (p.Phe2128Leu)
c.6633T>G (p.Phe2211Leu)
Yg.12846383A>CCA415007507USP9Yc.6619A>C (p.Met2207Leu)
n.6646A>C
c.6385A>C (p.Met2129Leu)
c.6634A>C (p.Met2212Leu)
Yg.12846383A>GCA415007513USP9Yc.6619A>G (p.Met2207Val)
n.6646A>G
c.6385A>G (p.Met2129Val)
c.6634A>G (p.Met2212Val)
Yg.12846383A>TCA415007511USP9Yc.6619A>T (p.Met2207Leu)
n.6646A>T
c.6385A>T (p.Met2129Leu)
c.6634A>T (p.Met2212Leu)
Yg.12846384T>ACA415007515USP9Yc.6620T>A (p.Met2207Lys)
n.6647T>A
c.6386T>A (p.Met2129Lys)
c.6635T>A (p.Met2212Lys)
Yg.12846384T>CCA415007520USP9Yc.6620T>C (p.Met2207Thr)
n.6647T>C
c.6386T>C (p.Met2129Thr)
c.6635T>C (p.Met2212Thr)
Yg.12846384T>GCA415007522USP9Yc.6620T>G (p.Met2207Arg)
n.6647T>G
c.6386T>G (p.Met2129Arg)
c.6635T>G (p.Met2212Arg)
Yg.12846385G>ACA415007524USP9Yc.6621G>A (p.Met2207Ile)
n.6648G>A
c.6387G>A (p.Met2129Ile)
c.6636G>A (p.Met2212Ile)
Yg.12846385G>CCA415007525USP9Yc.6621G>C (p.Met2207Ile)
n.6648G>C
c.6387G>C (p.Met2129Ile)
c.6636G>C (p.Met2212Ile)
Yg.12846385G>TCA415007526USP9Yc.6621G>T (p.Met2207Ile)
n.6648G>T
c.6387G>T (p.Met2129Ile)
c.6636G>T (p.Met2212Ile)
Yg.12846386C>ACA415007527USP9Yc.6622C>A (p.Leu2208Ile)
n.6649C>A
c.6388C>A (p.Leu2130Ile)
c.6637C>A (p.Leu2213Ile)
Yg.12846386C>GCA415007528USP9Yc.6622C>G (p.Leu2208Val)
n.6649C>G
c.6388C>G (p.Leu2130Val)
c.6637C>G (p.Leu2213Val)
Yg.12846386C>TCA415007530USP9Yc.6622C>T (p.Leu2208Phe)
n.6649C>T
c.6388C>T (p.Leu2130Phe)
c.6637C>T (p.Leu2213Phe)
Yg.12846387T>ACA415007531USP9Yc.6623T>A (p.Leu2208His)
n.6650T>A
c.6389T>A (p.Leu2130His)
c.6638T>A (p.Leu2213His)
Yg.12846387T>CCA415007533USP9Yc.6623T>C (p.Leu2208Pro)
n.6650T>C
c.6389T>C (p.Leu2130Pro)
c.6638T>C (p.Leu2213Pro)
Yg.12846387T>GCA415007534USP9Yc.6623T>G (p.Leu2208Arg)
n.6650T>G
c.6389T>G (p.Leu2130Arg)
c.6638T>G (p.Leu2213Arg)
Yg.12846388T>ACA519905932USP9Yc.6624T>A (p.Leu2208=)
n.6651T>A
c.6390T>A (p.Leu2130=)
c.6639T>A (p.Leu2213=)
Yg.12846388T>CCA519905933USP9Yc.6624T>C (p.Leu2208=)
n.6651T>C
c.6390T>C (p.Leu2130=)
c.6639T>C (p.Leu2213=)
Yg.12846388T>GCA519905934USP9Yc.6624T>G (p.Leu2208=)
n.6651T>G
c.6390T>G (p.Leu2130=)
c.6639T>G (p.Leu2213=)
Yg.12846389G>ACA415007548USP9Yc.6625G>A (p.Val2209Met)
n.6652G>A
c.6391G>A (p.Val2131Met)
c.6640G>A (p.Val2214Met)
Yg.12846389G>CCA415007541USP9Yc.6625G>C (p.Val2209Leu)
n.6652G>C
c.6391G>C (p.Val2131Leu)
c.6640G>C (p.Val2214Leu)
Yg.12846389G>TCA415007545USP9Yc.6625G>T (p.Val2209Leu)
n.6652G>T
c.6391G>T (p.Val2131Leu)
c.6640G>T (p.Val2214Leu)
Yg.12846390T>ACA415007550USP9Yc.6626T>A (p.Val2209Glu)
n.6653T>A
c.6392T>A (p.Val2131Glu)
c.6641T>A (p.Val2214Glu)
Yg.12846390T>CCA415007551USP9Yc.6626T>C (p.Val2209Ala)
n.6653T>C
c.6392T>C (p.Val2131Ala)
c.6641T>C (p.Val2214Ala)
Yg.12846390T>GCA415007554USP9Yc.6626T>G (p.Val2209Gly)
n.6653T>G
c.6392T>G (p.Val2131Gly)
c.6641T>G (p.Val2214Gly)
Yg.12846391G>ACA519905937USP9Yc.6627G>A (p.Val2209=)
n.6654G>A
c.6393G>A (p.Val2131=)
c.6642G>A (p.Val2214=)
Yg.12846391G>CCA519905940USP9Yc.6627G>C (p.Val2209=)
n.6654G>C
c.6393G>C (p.Val2131=)
c.6642G>C (p.Val2214=)
Yg.12846391G>TCA519905939USP9Yc.6627G>T (p.Val2209=)
n.6654G>T
c.6393G>T (p.Val2131=)
c.6642G>T (p.Val2214=)
Yg.12846392T>ACA415007557USP9Yc.6628T>A (p.Ser2210Thr)
n.6655T>A
c.6394T>A (p.Ser2132Thr)
c.6643T>A (p.Ser2215Thr)
Yg.12846392T>CCA415007559USP9Yc.6628T>C (p.Ser2210Pro)
n.6655T>C
c.6394T>C (p.Ser2132Pro)
c.6643T>C (p.Ser2215Pro)
Yg.12846392T>GCA415007560USP9Yc.6628T>G (p.Ser2210Ala)
n.6655T>G
c.6394T>G (p.Ser2132Ala)
c.6643T>G (p.Ser2215Ala)
Yg.12846393C>ACA415007561USP9Yc.6629C>A (p.Ser2210Tyr)
n.6656C>A
c.6395C>A (p.Ser2132Tyr)
c.6644C>A (p.Ser2215Tyr)
Yg.12846393C>GCA415007562USP9Yc.6629C>G (p.Ser2210Cys)
n.6656C>G
c.6395C>G (p.Ser2132Cys)
c.6644C>G (p.Ser2215Cys)
Yg.12846393C>TCA415007563USP9Yc.6629C>T (p.Ser2210Phe)
n.6656C>T
c.6395C>T (p.Ser2132Phe)
c.6644C>T (p.Ser2215Phe)
Yg.12846394T>ACA519905941USP9Yc.6630T>A (p.Ser2210=)
n.6657T>A
c.6396T>A (p.Ser2132=)
c.6645T>A (p.Ser2215=)
Yg.12846394T>CCA519905943USP9Yc.6630T>C (p.Ser2210=)
n.6657T>C
c.6396T>C (p.Ser2132=)
c.6645T>C (p.Ser2215=)
Yg.12846394T>GCA519905945USP9Yc.6630T>G (p.Ser2210=)
n.6657T>G
c.6396T>G (p.Ser2132=)
c.6645T>G (p.Ser2215=)

Number of alleles fetched