Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.46726460_46726464delinsGCCCACA1969072607F2c.875-38_875-34delinsGCCCA (n.875-38_875-34delinsGCCCA)
c.845-38_845-34delinsGCCCA (n.845-38_845-34delinsGCCCA)
c.827-38_827-34delinsGCCCA (n.827-38_827-34delinsGCCCA)
n.919-38_919-34delinsGCCCA
n.910-38_910-34delinsGCCCA
11g.46726461_46726464delCA1969072610F2c.875-37_875-34del (n.875-37_875-34del)
c.845-37_845-34del (n.845-37_845-34del)
c.827-37_827-34del (n.827-37_827-34del)
n.919-37_919-34del
n.910-37_910-34del
 dbSNP
11g.46726463C>ACA2613335183F2c.875-35C>A (n.875-35C>A)
c.845-35C>A (n.845-35C>A)
c.827-35C>A (n.827-35C>A)
n.919-35C>A
n.910-35C>A
 gnomAD v4
11g.46726463C>TCA2842868010F2c.875-35C>T (n.875-35C>T)
c.845-35C>T (n.845-35C>T)
c.827-35C>T (n.827-35C>T)
n.919-35C>T
n.910-35C>T
11g.46726465G>ACA5967095F2c.875-33G>A (n.875-33G>A)
c.845-33G>A (n.845-33G>A)
c.827-33G>A (n.827-33G>A)
n.919-33G>A
n.910-33G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.46726465G=CA1969072617F2c.875-33G= (n.875-33G=)
c.845-33G= (n.845-33G=)
c.827-33G= (n.827-33G=)
n.919-33G=
n.910-33G=
11g.46726465G>TCA2842868011F2c.875-33G>T (n.875-33G>T)
c.845-33G>T (n.845-33G>T)
c.827-33G>T (n.827-33G>T)
n.919-33G>T
n.910-33G>T
11g.46726466C>ACA1969072620F2c.875-32C>A (n.875-32C>A)
c.845-32C>A (n.845-32C>A)
c.827-32C>A (n.827-32C>A)
n.919-32C>A
n.910-32C>A
 dbSNP
11g.46726466C=CA1969072619F2c.875-32C= (n.875-32C=)
c.845-32C= (n.845-32C=)
c.827-32C= (n.827-32C=)
n.919-32C=
n.910-32C=
11g.46726467C>GCA654191764F2c.875-31C>G (n.875-31C>G)
c.845-31C>G (n.845-31C>G)
c.827-31C>G (n.827-31C>G)
n.919-31C>G
n.910-31C>G
 COSMIC
11g.46726467C>TCA2839145554F2c.875-31C>T (n.875-31C>T)
c.845-31C>T (n.845-31C>T)
c.827-31C>T (n.827-31C>T)
n.919-31C>T
n.910-31C>T
11g.46726468C>ACA2839145542F2c.875-30C>A (n.875-30C>A)
c.845-30C>A (n.845-30C>A)
c.827-30C>A (n.827-30C>A)
n.919-30C>A
n.910-30C>A
11g.46726468C=CA1969072623F2c.875-30C= (n.875-30C=)
c.845-30C= (n.845-30C=)
c.827-30C= (n.827-30C=)
n.919-30C=
n.910-30C=
11g.46726468C>GCA2613335187F2c.875-30C>G (n.875-30C>G)
c.845-30C>G (n.845-30C>G)
c.827-30C>G (n.827-30C>G)
n.919-30C>G
n.910-30C>G
 gnomAD v4
11g.46726468C>TCA599372341F2c.875-30C>T (n.875-30C>T)
c.845-30C>T (n.845-30C>T)
c.827-30C>T (n.827-30C>T)
n.919-30C>T
n.910-30C>T
 dbSNP gnomAD v2
11g.46726469A>GCA2838504958F2c.875-29A>G (n.875-29A>G)
c.845-29A>G (n.845-29A>G)
c.827-29A>G (n.827-29A>G)
n.919-29A>G
n.910-29A>G
11g.46726470G>ACA2838506354F2c.875-28G>A (n.875-28G>A)
c.845-28G>A (n.845-28G>A)
c.827-28G>A (n.827-28G>A)
n.919-28G>A
n.910-28G>A
11g.46726471T>CCA1969072627F2c.875-27T>C (n.875-27T>C)
c.845-27T>C (n.845-27T>C)
c.827-27T>C (n.827-27T>C)
n.919-27T>C
n.910-27T>C
 dbSNP
11g.46726471T=CA1969072625F2c.875-27T= (n.875-27T=)
c.845-27T= (n.845-27T=)
c.827-27T= (n.827-27T=)
n.919-27T=
n.910-27T=
11g.46726472C>ACA2838504950F2c.875-26C>A (n.875-26C>A)
c.845-26C>A (n.845-26C>A)
c.827-26C>A (n.827-26C>A)
n.919-26C>A
n.910-26C>A
11g.46726472C>TCA2574810812F2c.875-26C>T (n.875-26C>T)
c.845-26C>T (n.845-26C>T)
c.827-26C>T (n.827-26C>T)
n.919-26C>T
n.910-26C>T
11g.46726473C>TCA2574810813F2c.875-25C>T (n.875-25C>T)
c.845-25C>T (n.845-25C>T)
c.827-25C>T (n.827-25C>T)
n.919-25C>T
n.910-25C>T
11g.46726474C=CA1969072632F2c.875-24C= (n.875-24C=)
c.845-24C= (n.845-24C=)
c.827-24C= (n.827-24C=)
n.919-24C=
n.910-24C=
11g.46726474C>TCA5967096F2c.875-24C>T (n.875-24C>T)
c.845-24C>T (n.845-24C>T)
c.827-24C>T (n.827-24C>T)
n.919-24C>T
n.910-24C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726475A>GCA2613335191F2c.875-23A>G (n.875-23A>G)
c.845-23A>G (n.845-23A>G)
c.827-23A>G (n.827-23A>G)
n.919-23A>G
n.910-23A>G
 gnomAD v4
11g.46726475A>TCA2613335192F2c.875-23A>T (n.875-23A>T)
c.845-23A>T (n.845-23A>T)
c.827-23A>T (n.827-23A>T)
n.919-23A>T
n.910-23A>T
 gnomAD v4
11g.46726476G>CCA599372342F2c.875-22G>C (n.875-22G>C)
c.845-22G>C (n.845-22G>C)
c.827-22G>C (n.827-22G>C)
n.919-22G>C
n.910-22G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.46726476G=CA1969072636F2c.875-22G= (n.875-22G=)
c.845-22G= (n.845-22G=)
c.827-22G= (n.827-22G=)
n.919-22G=
n.910-22G=
11g.46726477C>TCA2613335194F2c.875-21C>T (n.875-21C>T)
c.845-21C>T (n.845-21C>T)
c.827-21C>T (n.827-21C>T)
n.919-21C>T
n.910-21C>T
 gnomAD v4
11g.46726478C>ACA2574810814F2c.875-20C>A (n.875-20C>A)
c.845-20C>A (n.845-20C>A)
c.827-20C>A (n.827-20C>A)
n.919-20C>A
n.910-20C>A
11g.46726478C=CA1969072638F2c.875-20C= (n.875-20C=)
c.845-20C= (n.845-20C=)
c.827-20C= (n.827-20C=)
n.919-20C=
n.910-20C=
11g.46726478C>GCA1969072639F2c.875-20C>G (n.875-20C>G)
c.845-20C>G (n.845-20C>G)
c.827-20C>G (n.827-20C>G)
n.919-20C>G
n.910-20C>G
 dbSNP
11g.46726478C>TCA5967097F2c.875-20C>T (n.875-20C>T)
c.845-20C>T (n.845-20C>T)
c.827-20C>T (n.827-20C>T)
n.919-20C>T
n.910-20C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726479G>ACA5967098F2c.875-19G>A (n.875-19G>A)
c.845-19G>A (n.845-19G>A)
c.827-19G>A (n.827-19G>A)
n.919-19G>A
n.910-19G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726479G=CA1969072641F2c.875-19G= (n.875-19G=)
c.845-19G= (n.845-19G=)
c.827-19G= (n.827-19G=)
n.919-19G=
n.910-19G=
11g.46726480G>ACA2613335201F2c.875-18G>A (n.875-18G>A)
c.845-18G>A (n.845-18G>A)
c.827-18G>A (n.827-18G>A)
n.919-18G>A
n.910-18G>A
 gnomAD v4
11g.46726486G>ACA2791314683F2c.875-12G>A (n.875-12G>A)
c.845-12G>A (n.845-12G>A)
c.827-12G>A (n.827-12G>A)
n.919-12G>A
n.910-12G>A
11g.46726487G>ACA2574810815F2c.875-11G>A (n.875-11G>A)
c.845-11G>A (n.845-11G>A)
c.827-11G>A (n.827-11G>A)
n.919-11G>A
n.910-11G>A
11g.46726487G>TCA2613335203F2c.875-11G>T (n.875-11G>T)
c.845-11G>T (n.845-11G>T)
c.827-11G>T (n.827-11G>T)
n.919-11G>T
n.910-11G>T
 gnomAD v4
11g.46726488G>ACA2613335205F2c.875-10G>A (n.875-10G>A)
c.845-10G>A (n.845-10G>A)
c.827-10G>A (n.827-10G>A)
n.919-10G>A
n.910-10G>A
 gnomAD v4
11g.46726490C=CA1969072646F2c.875-8C= (n.875-8C=)
c.845-8C= (n.845-8C=)
c.827-8C= (n.827-8C=)
n.919-8C=
n.910-8C=
11g.46726490C>TCA915948114F2c.875-8C>T (n.875-8C>T)
c.845-8C>T (n.845-8C>T)
c.827-8C>T (n.827-8C>T)
n.919-8C>T
n.910-8C>T
11g.46726491C=CA1969072648F2c.875-7C= (n.875-7C=)
c.845-7C= (n.845-7C=)
c.827-7C= (n.827-7C=)
n.919-7C=
n.910-7C=
11g.46726491C>TCA1969072649F2c.875-7C>T (n.875-7C>T)
c.845-7C>T (n.845-7C>T)
c.827-7C>T (n.827-7C>T)
n.919-7C>T
n.910-7C>T
 ClinVar dbSNP gnomAD v4
11g.46726494A=CA1969072651F2c.875-4A= (n.875-4A=)
c.845-4A= (n.845-4A=)
c.827-4A= (n.827-4A=)
n.919-4A=
n.910-4A=
11g.46726494A>GCA937604198F2c.875-4A>G (n.875-4A>G)
c.845-4A>G (n.845-4A>G)
c.827-4A>G (n.827-4A>G)
n.919-4A>G
n.910-4A>G
 dbSNP gnomAD v3 gnomAD v4
11g.46726495C=CA1969072652F2c.875-3C= (n.875-3C=)
c.845-3C= (n.845-3C=)
c.827-3C= (n.827-3C=)
n.919-3C=
n.910-3C=
11g.46726495C>TCA599372343F2c.875-3C>T (n.875-3C>T)
c.845-3C>T (n.845-3C>T)
c.827-3C>T (n.827-3C>T)
n.919-3C>T
n.910-3C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.46726496A>CCA380266341F2c.875-2A>C (n.875-2A>C)
c.845-2A>C (n.845-2A>C)
c.827-2A>C (n.827-2A>C)
n.919-2A>C
n.910-2A>C
11g.46726496A>GCA380266336F2c.875-2A>G (n.875-2A>G)
c.845-2A>G (n.845-2A>G)
c.827-2A>G (n.827-2A>G)
n.919-2A>G
n.910-2A>G
11g.46726496A>TCA380266339F2c.875-2A>T (n.875-2A>T)
c.845-2A>T (n.845-2A>T)
c.827-2A>T (n.827-2A>T)
n.919-2A>T
n.910-2A>T
11g.46726497G>ACA380266343F2c.875-1G>A (n.875-1G>A)
c.845-1G>A (n.845-1G>A)
c.827-1G>A (n.827-1G>A)
n.919-1G>A
n.910-1G>A
11g.46726497G>CCA380266352F2c.875-1G>C (n.875-1G>C)
c.845-1G>C (n.845-1G>C)
c.827-1G>C (n.827-1G>C)
n.919-1G>C
n.910-1G>C
11g.46726497G>TCA380266357F2c.875-1G>T (n.875-1G>T)
c.845-1G>T (n.845-1G>T)
c.827-1G>T (n.827-1G>T)
n.919-1G>T
n.910-1G>T
11g.46726498A>CCA380266360F2c.875A>C (p.Glu292Ala)
c.845A>C (p.Glu282Ala)
c.827A>C (p.Glu276Ala)
n.919A>C
n.910A>C
11g.46726498A>GCA380266365F2c.875A>G (p.Glu292Gly)
c.845A>G (p.Glu282Gly)
c.827A>G (p.Glu276Gly)
n.919A>G
n.910A>G
11g.46726498A>TCA380266367F2c.875A>T (p.Glu292Val)
c.845A>T (p.Glu282Val)
c.827A>T (p.Glu276Val)
n.919A>T
n.910A>T
11g.46726499G>ACA474043404F2c.876G>A (p.Glu292=)
c.846G>A (p.Glu282=)
c.828G>A (p.Glu276=)
n.920G>A
n.911G>A
11g.46726499G>CCA380266371F2c.876G>C (p.Glu292Asp)
c.846G>C (p.Glu282Asp)
c.828G>C (p.Glu276Asp)
n.920G>C
n.911G>C
11g.46726499G>TCA380266373F2c.876G>T (p.Glu292Asp)
c.846G>T (p.Glu282Asp)
c.828G>T (p.Glu276Asp)
n.920G>T
n.911G>T
11g.46726500delCA2695213835F2c.877del (p.Glu293ArgfsTer?)
c.847del (p.Glu283ArgfsTer?)
c.829del (p.Glu277ArgfsTer?)
n.921del
n.912del
11g.46726500G>ACA380266375F2c.877G>A (p.Glu293Lys)
c.847G>A (p.Glu283Lys)
c.829G>A (p.Glu277Lys)
n.921G>A
n.912G>A
11g.46726500G>CCA380266376F2c.877G>C (p.Glu293Gln)
c.847G>C (p.Glu283Gln)
c.829G>C (p.Glu277Gln)
n.921G>C
n.912G>C
11g.46726500G>TCA380266379F2c.877G>T (p.Glu293Ter)
c.847G>T (p.Glu283Ter)
c.829G>T (p.Glu277Ter)
n.921G>T
n.912G>T
11g.46726501A=CA1969072655F2c.878A= (p.Glu293=)
c.848A= (p.Glu283=)
c.830A= (p.Glu277=)
n.922A=
n.913A=
11g.46726501A>CCA380266383F2c.878A>C (p.Glu293Ala)
c.848A>C (p.Glu283Ala)
c.830A>C (p.Glu277Ala)
n.922A>C
n.913A>C
11g.46726501A>GCA380266385F2c.878A>G (p.Glu293Gly)
c.848A>G (p.Glu283Gly)
c.830A>G (p.Glu277Gly)
n.922A>G
n.913A>G
 dbSNP gnomAD v2 gnomAD v4
11g.46726501A>TCA380266381F2c.878A>T (p.Glu293Val)
c.848A>T (p.Glu283Val)
c.830A>T (p.Glu277Val)
n.922A>T
n.913A>T
11g.46726502G>ACA5967099F2c.879G>A (p.Glu293=)
c.849G>A (p.Glu283=)
c.831G>A (p.Glu277=)
n.923G>A
n.914G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726502G>CCA380266390F2c.879G>C (p.Glu293Asp)
c.849G>C (p.Glu283Asp)
c.831G>C (p.Glu277Asp)
n.923G>C
n.914G>C
11g.46726502G=CA1969072657F2c.879G= (p.Glu293=)
c.849G= (p.Glu283=)
c.831G= (p.Glu277=)
n.923G=
n.914G=
11g.46726502G>TCA380266393F2c.879G>T (p.Glu293Asp)
c.849G>T (p.Glu283Asp)
c.831G>T (p.Glu277Asp)
n.923G>T
n.914G>T
11g.46726503G>ACA380266398F2c.880G>A (p.Ala294Thr)
c.850G>A (p.Ala284Thr)
c.832G>A (p.Ala278Thr)
n.924G>A
n.915G>A
11g.46726503G>CCA380266400F2c.880G>C (p.Ala294Pro)
c.850G>C (p.Ala284Pro)
c.832G>C (p.Ala278Pro)
n.924G>C
n.915G>C
11g.46726503G=CA1969072659F2c.880G= (p.Ala294=)
c.850G= (p.Ala284=)
c.832G= (p.Ala278=)
n.924G=
n.915G=
11g.46726503G>TCA5967100F2c.880G>T (p.Ala294Ser)
c.850G>T (p.Ala284Ser)
c.832G>T (p.Ala278Ser)
n.924G>T
n.915G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.46726504C>ACA380266404F2c.881C>A (p.Ala294Asp)
c.851C>A (p.Ala284Asp)
c.833C>A (p.Ala278Asp)
n.925C>A
n.916C>A
 dbSNP
11g.46726504C=CA1969072662F2c.881C= (p.Ala294=)
c.851C= (p.Ala284=)
c.833C= (p.Ala278=)
n.925C=
n.916C=
11g.46726504C>GCA380266410F2c.881C>G (p.Ala294Gly)
c.851C>G (p.Ala284Gly)
c.833C>G (p.Ala278Gly)
n.925C>G
n.916C>G
 dbSNP
11g.46726504C>TCA380266407F2c.881C>T (p.Ala294Val)
c.851C>T (p.Ala284Val)
c.833C>T (p.Ala278Val)
n.925C>T
n.916C>T
11g.46726505C>ACA474043437F2c.882C>A (p.Ala294=)
c.852C>A (p.Ala284=)
c.834C>A (p.Ala278=)
n.926C>A
n.917C>A
11g.46726505C=CA1969072663F2c.882C= (p.Ala294=)
c.852C= (p.Ala284=)
c.834C= (p.Ala278=)
n.926C=
n.917C=
11g.46726505C>GCA474043440F2c.882C>G (p.Ala294=)
c.852C>G (p.Ala284=)
c.834C>G (p.Ala278=)
n.926C>G
n.917C>G
11g.46726505C>TCA5967101F2c.882C>T (p.Ala294=)
c.852C>T (p.Ala284=)
c.834C>T (p.Ala278=)
n.926C>T
n.917C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726506G>ACA5967102F2c.883G>A (p.Val295Met)
c.853G>A (p.Val285Met)
c.835G>A (p.Val279Met)
n.927G>A
n.918G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726506G>CCA380266419F2c.883G>C (p.Val295Leu)
c.853G>C (p.Val285Leu)
c.835G>C (p.Val279Leu)
n.927G>C
n.918G>C
11g.46726506G=CA1969072665F2c.883G= (p.Val295=)
c.853G= (p.Val285=)
c.835G= (p.Val279=)
n.927G=
n.918G=
11g.46726506G>TCA380266421F2c.883G>T (p.Val295Leu)
c.853G>T (p.Val285Leu)
c.835G>T (p.Val279Leu)
n.927G>T
n.918G>T
11g.46726507T>ACA380266424F2c.884T>A (p.Val295Glu)
c.854T>A (p.Val285Glu)
c.836T>A (p.Val279Glu)
n.928T>A
n.919T>A
 dbSNP gnomAD v3 gnomAD v4
11g.46726507T>CCA380266426F2c.884T>C (p.Val295Ala)
c.854T>C (p.Val285Ala)
c.836T>C (p.Val279Ala)
n.928T>C
n.919T>C
 gnomAD v4
11g.46726507T>GCA380266425F2c.884T>G (p.Val295Gly)
c.854T>G (p.Val285Gly)
c.836T>G (p.Val279Gly)
n.928T>G
n.919T>G
 gnomAD v4
11g.46726507T=CA1969072666F2c.884T= (p.Val295=)
c.854T= (p.Val285=)
c.836T= (p.Val279=)
n.928T=
n.919T=
11g.46726507_46726510delinsTGGACA1969072667F2c.884_887delinsTGGA (p.Val295=)
c.854_857delinsTGGA (p.Val285=)
c.836_839delinsTGGA (p.Val279=)
n.928_931delinsTGGA
n.919_922delinsTGGA
11g.46726508G>ACA474043447F2c.885G>A (p.Val295=)
c.855G>A (p.Val285=)
c.837G>A (p.Val279=)
n.929G>A
n.920G>A
 dbSNP
11g.46726508G>CCA474043448F2c.885G>C (p.Val295=)
c.855G>C (p.Val285=)
c.837G>C (p.Val279=)
n.929G>C
n.920G>C
11g.46726508G=CA1969072669F2c.885G= (p.Val295=)
c.855G= (p.Val285=)
c.837G= (p.Val279=)
n.929G=
n.920G=
11g.46726508G>TCA474043450F2c.885G>T (p.Val295=)
c.855G>T (p.Val285=)
c.837G>T (p.Val279=)
n.929G>T
n.920G>T
11g.46726515_46726517delCA1969072671F2c.892_894del (p.Glu298del)
c.862_864del (p.Glu288del)
c.844_846del (p.Glu282del)
n.936_938del
n.927_929del
 dbSNP
11g.46726509G>ACA380266427F2c.886G>A (p.Glu296Lys)
c.856G>A (p.Glu286Lys)
c.838G>A (p.Glu280Lys)
n.930G>A
n.921G>A
11g.46726509G>CCA380266428F2c.886G>C (p.Glu296Gln)
c.856G>C (p.Glu286Gln)
c.838G>C (p.Glu280Gln)
n.930G>C
n.921G>C
11g.46726509G>TCA380266431F2c.886G>T (p.Glu296Ter)
c.856G>T (p.Glu286Ter)
c.838G>T (p.Glu280Ter)
n.930G>T
n.921G>T
 gnomAD v4
11g.46726510A>CCA380266433F2c.887A>C (p.Glu296Ala)
c.857A>C (p.Glu286Ala)
c.839A>C (p.Glu280Ala)
n.931A>C
n.922A>C
11g.46726510A>GCA380266435F2c.887A>G (p.Glu296Gly)
c.857A>G (p.Glu286Gly)
c.839A>G (p.Glu280Gly)
n.931A>G
n.922A>G
11g.46726510A>TCA380266438F2c.887A>T (p.Glu296Val)
c.857A>T (p.Glu286Val)
c.839A>T (p.Glu280Val)
n.931A>T
n.922A>T
11g.46726511G>ACA5967103F2c.888G>A (p.Glu296=)
c.858G>A (p.Glu286=)
c.840G>A (p.Glu280=)
n.932G>A
n.923G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.46726511G>CCA380266442F2c.888G>C (p.Glu296Asp)
c.858G>C (p.Glu286Asp)
c.840G>C (p.Glu280Asp)
n.932G>C
n.923G>C
11g.46726511G=CA1969072674F2c.888G= (p.Glu296=)
c.858G= (p.Glu286=)
c.840G= (p.Glu280=)
n.932G=
n.923G=
11g.46726511G>TCA380266445F2c.888G>T (p.Glu296Asp)
c.858G>T (p.Glu286Asp)
c.840G>T (p.Glu280Asp)
n.932G>T
n.923G>T
11g.46726512G>ACA380266448F2c.889G>A (p.Glu297Lys)
c.859G>A (p.Glu287Lys)
c.841G>A (p.Glu281Lys)
n.933G>A
n.924G>A
 dbSNP
11g.46726512G>CCA380266450F2c.889G>C (p.Glu297Gln)
c.859G>C (p.Glu287Gln)
c.841G>C (p.Glu281Gln)
n.933G>C
n.924G>C
11g.46726512G=CA1969072678F2c.889G= (p.Glu297=)
c.859G= (p.Glu287=)
c.841G= (p.Glu281=)
n.933G=
n.924G=
11g.46726512G>TCA221652638F2c.889G>T (p.Glu297Ter)
c.859G>T (p.Glu287Ter)
c.841G>T (p.Glu281Ter)
n.933G>T
n.924G>T
 dbSNP gnomAD v2 gnomAD v4
11g.46726513A=CA1969072681F2c.890A= (p.Glu297=)
c.860A= (p.Glu287=)
c.842A= (p.Glu281=)
n.934A=
n.925A=
11g.46726513A>CCA380266462F2c.890A>C (p.Glu297Ala)
c.860A>C (p.Glu287Ala)
c.842A>C (p.Glu281Ala)
n.934A>C
n.925A>C
11g.46726513A>GCA380266463F2c.890A>G (p.Glu297Gly)
c.860A>G (p.Glu287Gly)
c.842A>G (p.Glu281Gly)
n.934A>G
n.925A>G
11g.46726513A>TCA221652639F2c.890A>T (p.Glu297Val)
c.860A>T (p.Glu287Val)
c.842A>T (p.Glu281Val)
n.934A>T
n.925A>T
 dbSNP gnomAD v2 gnomAD v4
11g.46726514G>ACA474043464F2c.891G>A (p.Glu297=)
c.861G>A (p.Glu287=)
c.843G>A (p.Glu281=)
n.935G>A
n.926G>A
11g.46726514G>CCA380266465F2c.891G>C (p.Glu297Asp)
c.861G>C (p.Glu287Asp)
c.843G>C (p.Glu281Asp)
n.935G>C
n.926G>C
11g.46726514G>TCA380266467F2c.891G>T (p.Glu297Asp)
c.861G>T (p.Glu287Asp)
c.843G>T (p.Glu281Asp)
n.935G>T
n.926G>T
11g.46726515G>ACA380266470F2c.892G>A (p.Glu298Lys)
c.862G>A (p.Glu288Lys)
c.844G>A (p.Glu282Lys)
n.936G>A
n.927G>A
11g.46726515G>CCA380266472F2c.892G>C (p.Glu298Gln)
c.862G>C (p.Glu288Gln)
c.844G>C (p.Glu282Gln)
n.936G>C
n.927G>C
 dbSNP
11g.46726515G=CA1969072685F2c.892G= (p.Glu298=)
c.862G= (p.Glu288=)
c.844G= (p.Glu282=)
n.936G=
n.927G=
11g.46726515G>TCA380266474F2c.892G>T (p.Glu298Ter)
c.862G>T (p.Glu288Ter)
c.844G>T (p.Glu282Ter)
n.936G>T
n.927G>T
 dbSNP
11g.46726516A=CA1969072687F2c.893A= (p.Glu298=)
c.863A= (p.Glu288=)
c.845A= (p.Glu282=)
n.937A=
n.928A=
11g.46726516A>CCA380266477F2c.893A>C (p.Glu298Ala)
c.863A>C (p.Glu288Ala)
c.845A>C (p.Glu282Ala)
n.937A>C
n.928A>C
11g.46726516A>GCA380266479F2c.893A>G (p.Glu298Gly)
c.863A>G (p.Glu288Gly)
c.845A>G (p.Glu282Gly)
n.937A>G
n.928A>G
 dbSNP gnomAD v3 gnomAD v4
11g.46726516A>TCA380266480F2c.893A>T (p.Glu298Val)
c.863A>T (p.Glu288Val)
c.845A>T (p.Glu282Val)
n.937A>T
n.928A>T
11g.46726517G>ACA474043478F2c.894G>A (p.Glu298=)
c.864G>A (p.Glu288=)
c.846G>A (p.Glu282=)
n.938G>A
n.929G>A
11g.46726517G>CCA380266483F2c.894G>C (p.Glu298Asp)
c.864G>C (p.Glu288Asp)
c.846G>C (p.Glu282Asp)
n.938G>C
n.929G>C
 COSMIC
11g.46726517G>TCA380266485F2c.894G>T (p.Glu298Asp)
c.864G>T (p.Glu288Asp)
c.846G>T (p.Glu282Asp)
n.938G>T
n.929G>T
 gnomAD v4
11g.46726518A>CCA380266486F2c.895A>C (p.Thr299Pro)
c.865A>C (p.Thr289Pro)
c.847A>C (p.Thr283Pro)
n.939A>C
n.930A>C
11g.46726518A>GCA380266489F2c.895A>G (p.Thr299Ala)
c.865A>G (p.Thr289Ala)
c.847A>G (p.Thr283Ala)
n.939A>G
n.930A>G
11g.46726518A>TCA380266491F2c.895A>T (p.Thr299Ser)
c.865A>T (p.Thr289Ser)
c.847A>T (p.Thr283Ser)
n.939A>T
n.930A>T
11g.46726519C>ACA380266496F2c.896C>A (p.Thr299Lys)
c.866C>A (p.Thr289Lys)
c.848C>A (p.Thr283Lys)
n.940C>A
n.931C>A
11g.46726519C=CA1969072689F2c.896C= (p.Thr299=)
c.866C= (p.Thr289=)
c.848C= (p.Thr283=)
n.940C=
n.931C=
11g.46726519C>GCA380266495F2c.896C>G (p.Thr299Arg)
c.866C>G (p.Thr289Arg)
c.848C>G (p.Thr283Arg)
n.940C>G
n.931C>G
 dbSNP gnomAD v2 gnomAD v4
11g.46726519C>TCA380266494F2c.896C>T (p.Thr299Ile)
c.866C>T (p.Thr289Ile)
c.848C>T (p.Thr283Ile)
n.940C>T
n.931C>T
 dbSNP gnomAD v4
11g.46726520A>CCA474043499F2c.897A>C (p.Thr299=)
c.867A>C (p.Thr289=)
c.849A>C (p.Thr283=)
n.941A>C
n.932A>C
11g.46726520A>GCA474043502F2c.897A>G (p.Thr299=)
c.867A>G (p.Thr289=)
c.849A>G (p.Thr283=)
n.941A>G
n.932A>G
11g.46726520A>TCA474043503F2c.897A>T (p.Thr299=)
c.867A>T (p.Thr289=)
c.849A>T (p.Thr283=)
n.941A>T
n.932A>T
11g.46726521G>ACA380266497F2c.898G>A (p.Gly300Arg)
c.868G>A (p.Gly290Arg)
c.850G>A (p.Gly284Arg)
n.942G>A
n.933G>A
 gnomAD v4
11g.46726521G>CCA380266498F2c.898G>C (p.Gly300Arg)
c.868G>C (p.Gly290Arg)
c.850G>C (p.Gly284Arg)
n.942G>C
n.933G>C
11g.46726521G>TCA380266499F2c.898G>T (p.Gly300Ter)
c.868G>T (p.Gly290Ter)
c.850G>T (p.Gly284Ter)
n.942G>T
n.933G>T
11g.46726522G>ACA380266500F2c.899G>A (p.Gly300Glu)
c.869G>A (p.Gly290Glu)
c.851G>A (p.Gly284Glu)
n.943G>A
n.934G>A
 dbSNP gnomAD v2 gnomAD v4
11g.46726522G>CCA380266502F2c.899G>C (p.Gly300Ala)
c.869G>C (p.Gly290Ala)
c.851G>C (p.Gly284Ala)
n.943G>C
n.934G>C
11g.46726522G=CA1969072691F2c.899G= (p.Gly300=)
c.869G= (p.Gly290=)
c.851G= (p.Gly284=)
n.943G=
n.934G=
11g.46726522G>TCA380266505F2c.899G>T (p.Gly300Val)
c.869G>T (p.Gly290Val)
c.851G>T (p.Gly284Val)
n.943G>T
n.934G>T
11g.46726523A>CCA474043507F2c.900A>C (p.Gly300=)
c.870A>C (p.Gly290=)
c.852A>C (p.Gly284=)
n.944A>C
n.935A>C
11g.46726523A>GCA474043508F2c.900A>G (p.Gly300=)
c.870A>G (p.Gly290=)
c.852A>G (p.Gly284=)
n.944A>G
n.935A>G
11g.46726523A>TCA474043509F2c.900A>T (p.Gly300=)
c.870A>T (p.Gly290=)
c.852A>T (p.Gly284=)
n.944A>T
n.935A>T
 gnomAD v4
11g.46726524delCA2574810816F2c.901del (p.Asp301MetfsTer?)
c.871del (p.Asp291MetfsTer?)
c.853del (p.Asp285MetfsTer?)
n.945del
n.936del
 gnomAD v4
11g.46726524G>ACA380266508F2c.901G>A (p.Asp301Asn)
c.871G>A (p.Asp291Asn)
c.853G>A (p.Asp285Asn)
n.945G>A
n.936G>A
11g.46726524G>CCA380266510F2c.901G>C (p.Asp301His)
c.871G>C (p.Asp291His)
c.853G>C (p.Asp285His)
n.945G>C
n.936G>C
11g.46726524G>TCA380266512F2c.901G>T (p.Asp301Tyr)
c.871G>T (p.Asp291Tyr)
c.853G>T (p.Asp285Tyr)
n.945G>T
n.936G>T
11g.46726528_46726536delCA2613335275F2c.905_913del (p.Gly302_Asp304del)
c.875_883del (p.Gly292_Asp294del)
c.857_865del (p.Gly286_Asp288del)
n.949_957del
n.940_948del
 gnomAD v4
11g.46726525A>CCA380266514F2c.902A>C (p.Asp301Ala)
c.872A>C (p.Asp291Ala)
c.854A>C (p.Asp285Ala)
n.946A>C
n.937A>C
11g.46726525A>GCA380266515F2c.902A>G (p.Asp301Gly)
c.872A>G (p.Asp291Gly)
c.854A>G (p.Asp285Gly)
n.946A>G
n.937A>G
11g.46726525A>TCA380266518F2c.902A>T (p.Asp301Val)
c.872A>T (p.Asp291Val)
c.854A>T (p.Asp285Val)
n.946A>T
n.937A>T
11g.46726526T>ACA380266520F2c.903T>A (p.Asp301Glu)
c.873T>A (p.Asp291Glu)
c.855T>A (p.Asp285Glu)
n.947T>A
n.938T>A
11g.46726526T>CCA474043518F2c.903T>C (p.Asp301=)
c.873T>C (p.Asp291=)
c.855T>C (p.Asp285=)
n.947T>C
n.938T>C
11g.46726526T>GCA380266523F2c.903T>G (p.Asp301Glu)
c.873T>G (p.Asp291Glu)
c.855T>G (p.Asp285Glu)
n.947T>G
n.938T>G
11g.46726527G>ACA380266528F2c.904G>A (p.Gly302Arg)
c.874G>A (p.Gly292Arg)
c.856G>A (p.Gly286Arg)
n.948G>A
n.939G>A
11g.46726527G>CCA380266531F2c.904G>C (p.Gly302Arg)
c.874G>C (p.Gly292Arg)
c.856G>C (p.Gly286Arg)
n.948G>C
n.939G>C
11g.46726527G>TCA380266527F2c.904G>T (p.Gly302Trp)
c.874G>T (p.Gly292Trp)
c.856G>T (p.Gly286Trp)
n.948G>T
n.939G>T
11g.46726528G>ACA380266533F2c.905G>A (p.Gly302Glu)
c.875G>A (p.Gly292Glu)
c.857G>A (p.Gly286Glu)
n.949G>A
n.940G>A
11g.46726528G>CCA380266536F2c.905G>C (p.Gly302Ala)
c.875G>C (p.Gly292Ala)
c.857G>C (p.Gly286Ala)
n.949G>C
n.940G>C
11g.46726528G>TCA380266543F2c.905G>T (p.Gly302Val)
c.875G>T (p.Gly292Val)
c.857G>T (p.Gly286Val)
n.949G>T
n.940G>T
11g.46726529G>ACA474043527F2c.906G>A (p.Gly302=)
c.876G>A (p.Gly292=)
c.858G>A (p.Gly286=)
n.950G>A
n.941G>A
 dbSNP
11g.46726529G>CCA474043530F2c.906G>C (p.Gly302=)
c.876G>C (p.Gly292=)
c.858G>C (p.Gly286=)
n.950G>C
n.941G>C
 dbSNP
11g.46726529G=CA1969072695F2c.906G= (p.Gly302=)
c.876G= (p.Gly292=)
c.858G= (p.Gly286=)
n.950G=
n.941G=
11g.46726529G>TCA474043532F2c.906G>T (p.Gly302=)
c.876G>T (p.Gly292=)
c.858G>T (p.Gly286=)
n.950G>T
n.941G>T
 dbSNP gnomAD v4
11g.46726530C>ACA380266545F2c.907C>A (p.Leu303Met)
c.877C>A (p.Leu293Met)
c.859C>A (p.Leu287Met)
n.951C>A
n.942C>A
11g.46726530C=CA1969072697F2c.907C= (p.Leu303=)
c.877C= (p.Leu293=)
c.859C= (p.Leu287=)
n.951C=
n.942C=
11g.46726530C>GCA221652663F2c.907C>G (p.Leu303Val)
c.877C>G (p.Leu293Val)
c.859C>G (p.Leu287Val)
n.951C>G
n.942C>G
 dbSNP gnomAD v3 gnomAD v4
11g.46726530C>TCA474043534F2c.907C>T (p.Leu303=)
c.877C>T (p.Leu293=)
c.859C>T (p.Leu287=)
n.951C>T
n.942C>T
11g.46726531T>ACA380266551F2c.908T>A (p.Leu303Gln)
c.878T>A (p.Leu293Gln)
c.860T>A (p.Leu287Gln)
n.952T>A
n.943T>A
11g.46726531T>CCA380266553F2c.908T>C (p.Leu303Pro)
c.878T>C (p.Leu293Pro)
c.860T>C (p.Leu287Pro)
n.952T>C
n.943T>C
11g.46726531T>GCA380266556F2c.908T>G (p.Leu303Arg)
c.878T>G (p.Leu293Arg)
c.860T>G (p.Leu287Arg)
n.952T>G
n.943T>G
11g.46726532G>ACA474043535F2c.909G>A (p.Leu303=)
c.879G>A (p.Leu293=)
c.861G>A (p.Leu287=)
n.953G>A
n.944G>A
11g.46726532G>CCA474043536F2c.909G>C (p.Leu303=)
c.879G>C (p.Leu293=)
c.861G>C (p.Leu287=)
n.953G>C
n.944G>C
11g.46726532G>TCA474043538F2c.909G>T (p.Leu303=)
c.879G>T (p.Leu293=)
c.861G>T (p.Leu287=)
n.953G>T
n.944G>T
11g.46726533G>ACA380266559F2c.910G>A (p.Asp304Asn)
c.880G>A (p.Asp294Asn)
c.862G>A (p.Asp288Asn)
n.954G>A
n.945G>A
11g.46726533G>CCA380266560F2c.910G>C (p.Asp304His)
c.880G>C (p.Asp294His)
c.862G>C (p.Asp288His)
n.954G>C
n.945G>C
11g.46726533G>TCA380266563F2c.910G>T (p.Asp304Tyr)
c.880G>T (p.Asp294Tyr)
c.862G>T (p.Asp288Tyr)
n.954G>T
n.945G>T
11g.46726534A>CCA380266571F2c.911A>C (p.Asp304Ala)
c.881A>C (p.Asp294Ala)
c.863A>C (p.Asp288Ala)
n.955A>C
n.946A>C
 gnomAD v4
11g.46726534A>GCA380266572F2c.911A>G (p.Asp304Gly)
c.881A>G (p.Asp294Gly)
c.863A>G (p.Asp288Gly)
n.955A>G
n.946A>G
11g.46726534A>TCA380266574F2c.911A>T (p.Asp304Val)
c.881A>T (p.Asp294Val)
c.863A>T (p.Asp288Val)
n.955A>T
n.946A>T
11g.46726535T>ACA380266576F2c.912T>A (p.Asp304Glu)
c.882T>A (p.Asp294Glu)
c.864T>A (p.Asp288Glu)
n.956T>A
n.947T>A
11g.46726535T>CCA474043547F2c.912T>C (p.Asp304=)
c.882T>C (p.Asp294=)
c.864T>C (p.Asp288=)
n.956T>C
n.947T>C
11g.46726535T>GCA380266579F2c.912T>G (p.Asp304Glu)
c.882T>G (p.Asp294Glu)
c.864T>G (p.Asp288Glu)
n.956T>G
n.947T>G
11g.46726536G>ACA380266584F2c.913G>A (p.Glu305Lys)
c.883G>A (p.Glu295Lys)
c.865G>A (p.Glu289Lys)
n.957G>A
n.948G>A
 gnomAD v4
11g.46726536G>CCA380266585F2c.913G>C (p.Glu305Gln)
c.883G>C (p.Glu295Gln)
c.865G>C (p.Glu289Gln)
n.957G>C
n.948G>C
11g.46726536G>TCA380266586F2c.913G>T (p.Glu305Ter)
c.883G>T (p.Glu295Ter)
c.865G>T (p.Glu289Ter)
n.957G>T
n.948G>T
11g.46726537A>CCA380266587F2c.914A>C (p.Glu305Ala)
c.884A>C (p.Glu295Ala)
c.866A>C (p.Glu289Ala)
n.958A>C
n.949A>C
 gnomAD v4
11g.46726537A>GCA380266588F2c.914A>G (p.Glu305Gly)
c.884A>G (p.Glu295Gly)
c.866A>G (p.Glu289Gly)
n.958A>G
n.949A>G
11g.46726537A>TCA380266589F2c.914A>T (p.Glu305Val)
c.884A>T (p.Glu295Val)
c.866A>T (p.Glu289Val)
n.958A>T
n.949A>T
11g.46726538G>ACA10634993F2c.915G>A (p.Glu305=)
c.885G>A (p.Glu295=)
c.867G>A (p.Glu289=)
n.959G>A
n.950G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.46726538G>CCA380266592F2c.915G>C (p.Glu305Asp)
c.885G>C (p.Glu295Asp)
c.867G>C (p.Glu289Asp)
n.959G>C
n.950G>C
11g.46726538G=CA1969072700F2c.915G= (p.Glu305=)
c.885G= (p.Glu295=)
c.867G= (p.Glu289=)
n.959G=
n.950G=
11g.46726538G>TCA380266594F2c.915G>T (p.Glu305Asp)
c.885G>T (p.Glu295Asp)
c.867G>T (p.Glu289Asp)
n.959G>T
n.950G>T
11g.46726539G>ACA5967104F2c.916G>A (p.Asp306Asn)
c.886G>A (p.Asp296Asn)
c.868G>A (p.Asp290Asn)
n.960G>A
n.951G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.46726539G>CCA380266596F2c.916G>C (p.Asp306His)
c.886G>C (p.Asp296His)
c.868G>C (p.Asp290His)
n.960G>C
n.951G>C
11g.46726539G=CA1969072706F2c.916G= (p.Asp306=)
c.886G= (p.Asp296=)
c.868G= (p.Asp290=)
n.960G=
n.951G=
11g.46726539G>TCA380266598F2c.916G>T (p.Asp306Tyr)
c.886G>T (p.Asp296Tyr)
c.868G>T (p.Asp290Tyr)
n.960G>T
n.951G>T
11g.46726540A>CCA380266605F2c.917A>C (p.Asp306Ala)
c.887A>C (p.Asp296Ala)
c.869A>C (p.Asp290Ala)
n.961A>C
n.952A>C
11g.46726540A>GCA380266603F2c.917A>G (p.Asp306Gly)
c.887A>G (p.Asp296Gly)
c.869A>G (p.Asp290Gly)
n.961A>G
n.952A>G
11g.46726540A>TCA380266600F2c.917A>T (p.Asp306Val)
c.887A>T (p.Asp296Val)
c.869A>T (p.Asp290Val)
n.961A>T
n.952A>T
11g.46726541C>ACA380266615F2c.918C>A (p.Asp306Glu)
c.888C>A (p.Asp296Glu)
c.870C>A (p.Asp290Glu)
n.962C>A
n.953C>A
11g.46726541C>GCA380266619F2c.918C>G (p.Asp306Glu)
c.888C>G (p.Asp296Glu)
c.870C>G (p.Asp290Glu)
n.962C>G
n.953C>G
11g.46726541C>TCA474043559F2c.918C>T (p.Asp306=)
c.888C>T (p.Asp296=)
c.870C>T (p.Asp290=)
n.962C>T
n.953C>T
11g.46726542T>ACA380266622F2c.919T>A (p.Ser307Thr)
c.889T>A (p.Ser297Thr)
c.871T>A (p.Ser291Thr)
n.963T>A
n.954T>A
11g.46726542T>CCA380266625F2c.919T>C (p.Ser307Pro)
c.889T>C (p.Ser297Pro)
c.871T>C (p.Ser291Pro)
n.963T>C
n.954T>C
 dbSNP
11g.46726542T>GCA380266623F2c.919T>G (p.Ser307Ala)
c.889T>G (p.Ser297Ala)
c.871T>G (p.Ser291Ala)
n.963T>G
n.954T>G
 gnomAD v4
11g.46726543C>ACA380266628F2c.920C>A (p.Ser307Ter)
c.890C>A (p.Ser297Ter)
c.872C>A (p.Ser291Ter)
n.964C>A
n.955C>A
11g.46726543C>GCA380266630F2c.920C>G (p.Ser307Ter)
c.890C>G (p.Ser297Ter)
c.872C>G (p.Ser291Ter)
n.964C>G
n.955C>G
11g.46726543C>TCA380266632F2c.920C>T (p.Ser307Leu)
c.890C>T (p.Ser297Leu)
c.872C>T (p.Ser291Leu)
n.964C>T
n.955C>T
11g.46726546_46726549delCA2739270427F2c.923_926del (p.Asp308GlyfsTer?)
c.893_896del (p.Asp298GlyfsTer?)
c.875_878del (p.Asp292GlyfsTer?)
n.967_970del
n.958_961del
 ClinVar
11g.46726544A>CCA474043563F2c.921A>C (p.Ser307=)
c.891A>C (p.Ser297=)
c.873A>C (p.Ser291=)
n.965A>C
n.956A>C
11g.46726544A>GCA474043564F2c.921A>G (p.Ser307=)
c.891A>G (p.Ser297=)
c.873A>G (p.Ser291=)
n.965A>G
n.956A>G
11g.46726544A>TCA474043565F2c.921A>T (p.Ser307=)
c.891A>T (p.Ser297=)
c.873A>T (p.Ser291=)
n.965A>T
n.956A>T
11g.46726545G>ACA380266635F2c.922G>A (p.Asp308Asn)
c.892G>A (p.Asp298Asn)
c.874G>A (p.Asp292Asn)
n.966G>A
n.957G>A
11g.46726545G>CCA221652676F2c.922G>C (p.Asp308His)
c.892G>C (p.Asp298His)
c.874G>C (p.Asp292His)
n.966G>C
n.957G>C
 dbSNP gnomAD v4
11g.46726545G=CA1969072710F2c.922G= (p.Asp308=)
c.892G= (p.Asp298=)
c.874G= (p.Asp292=)
n.966G=
n.957G=
11g.46726545G>TCA380266638F2c.922G>T (p.Asp308Tyr)
c.892G>T (p.Asp298Tyr)
c.874G>T (p.Asp292Tyr)
n.966G>T
n.957G>T
11g.46726546A>CCA380266642F2c.923A>C (p.Asp308Ala)
c.893A>C (p.Asp298Ala)
c.875A>C (p.Asp292Ala)
n.967A>C
n.958A>C
11g.46726546A>GCA380266644F2c.923A>G (p.Asp308Gly)
c.893A>G (p.Asp298Gly)
c.875A>G (p.Asp292Gly)
n.967A>G
n.958A>G
11g.46726546A>TCA380266646F2c.923A>T (p.Asp308Val)
c.893A>T (p.Asp298Val)
c.875A>T (p.Asp292Val)
n.967A>T
n.958A>T
11g.46726546_46726547delinsACCA1969072712F2c.923_924delinsAC (p.Asp308=)
c.893_894delinsAC (p.Asp298=)
c.875_876delinsAC (p.Asp292=)
n.967_968delinsAC
n.958_959delinsAC
11g.46726547delCA1969072714F2c.924del (p.Asp308GlufsTer?)
c.894del (p.Asp298GlufsTer?)
c.876del (p.Asp292GlufsTer?)
n.968del
n.959del
 dbSNP
11g.46726547C>ACA380266648F2c.924C>A (p.Asp308Glu)
c.894C>A (p.Asp298Glu)
c.876C>A (p.Asp292Glu)
n.968C>A
n.959C>A
11g.46726547C=CA1969072715F2c.924C= (p.Asp308=)
c.894C= (p.Asp298=)
c.876C= (p.Asp292=)
n.968C=
n.959C=
11g.46726547C>GCA380266650F2c.924C>G (p.Asp308Glu)
c.894C>G (p.Asp298Glu)
c.876C>G (p.Asp292Glu)
n.968C>G
n.959C>G
11g.46726547C>TCA5967105F2c.924C>T (p.Asp308=)
c.894C>T (p.Asp298=)
c.876C>T (p.Asp292=)
n.968C>T
n.959C>T
 dbSNP ExAC gnomAD v2
11g.46726548A=CA1969072720F2c.925A= (p.Arg309=)
c.895A= (p.Arg299=)
c.877A= (p.Arg293=)
n.969A=
n.960A=
11g.46726548A>CCA474043569F2c.925A>C (p.Arg309=)
c.895A>C (p.Arg299=)
c.877A>C (p.Arg293=)
n.969A>C
n.960A>C
11g.46726548A>GCA380266657F2c.925A>G (p.Arg309Gly)
c.895A>G (p.Arg299Gly)
c.877A>G (p.Arg293Gly)
n.969A>G
n.960A>G
 dbSNP gnomAD v2 gnomAD v4
11g.46726548A>TCA380266654F2c.925A>T (p.Arg309Trp)
c.895A>T (p.Arg299Trp)
c.877A>T (p.Arg293Trp)
n.969A>T
n.960A>T
11g.46726549G>ACA5967106F2c.926G>A (p.Arg309Lys)
c.896G>A (p.Arg299Lys)
c.878G>A (p.Arg293Lys)
n.970G>A
n.961G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.46726549G>CCA380266659F2c.926G>C (p.Arg309Thr)
c.896G>C (p.Arg299Thr)
c.878G>C (p.Arg293Thr)
n.970G>C
n.961G>C
11g.46726549G=CA1969072723F2c.926G= (p.Arg309=)
c.896G= (p.Arg299=)
c.878G= (p.Arg293=)
n.970G=
n.961G=
11g.46726549G>TCA380266662F2c.926G>T (p.Arg309Met)
c.896G>T (p.Arg299Met)
c.878G>T (p.Arg293Met)
n.970G>T
n.961G>T
11g.46726550G>ACA474043572F2c.927G>A (p.Arg309=)
c.897G>A (p.Arg299=)
c.879G>A (p.Arg293=)
n.971G>A
n.962G>A
11g.46726550G>CCA380266671F2c.927G>C (p.Arg309Ser)
c.897G>C (p.Arg299Ser)
c.879G>C (p.Arg293Ser)
n.971G>C
n.962G>C
11g.46726550G>TCA380266673F2c.927G>T (p.Arg309Ser)
c.897G>T (p.Arg299Ser)
c.879G>T (p.Arg293Ser)
n.971G>T
n.962G>T
11g.46726551G>ACA221652702F2c.928G>A (p.Ala310Thr)
c.898G>A (p.Ala300Thr)
c.880G>A (p.Ala294Thr)
n.972G>A
n.963G>A
 dbSNP gnomAD v3 gnomAD v4
11g.46726551G>CCA380266678F2c.928G>C (p.Ala310Pro)
c.898G>C (p.Ala300Pro)
c.880G>C (p.Ala294Pro)
n.972G>C
n.963G>C
11g.46726551G=CA1969072725F2c.928G= (p.Ala310=)
c.898G= (p.Ala300=)
c.880G= (p.Ala294=)
n.972G=
n.963G=
11g.46726551G>TCA380266681F2c.928G>T (p.Ala310Ser)
c.898G>T (p.Ala300Ser)
c.880G>T (p.Ala294Ser)
n.972G>T
n.963G>T
11g.46726552C>ACA380266684F2c.929C>A (p.Ala310Asp)
c.899C>A (p.Ala300Asp)
c.881C>A (p.Ala294Asp)
n.973C>A
n.964C>A
11g.46726552C=CA1969072729F2c.929C= (p.Ala310=)
c.899C= (p.Ala300=)
c.881C= (p.Ala294=)
n.973C=
n.964C=
11g.46726552C>GCA380266686F2c.929C>G (p.Ala310Gly)
c.899C>G (p.Ala300Gly)
c.881C>G (p.Ala294Gly)
n.973C>G
n.964C>G
11g.46726552C>TCA5967107F2c.929C>T (p.Ala310Val)
c.899C>T (p.Ala300Val)
c.881C>T (p.Ala294Val)
n.973C>T
n.964C>T
 dbSNP ExAC gnomAD v2
11g.46726553C>ACA221652724F2c.930C>A (p.Ala310=)
c.900C>A (p.Ala300=)
c.882C>A (p.Ala294=)
n.974C>A
n.965C>A
 dbSNP gnomAD v3 gnomAD v4
11g.46726553C=CA1969072732F2c.930C= (p.Ala310=)
c.900C= (p.Ala300=)
c.882C= (p.Ala294=)
n.974C=
n.965C=
11g.46726553C>GCA474043577F2c.930C>G (p.Ala310=)
c.900C>G (p.Ala300=)
c.882C>G (p.Ala294=)
n.974C>G
n.965C>G
11g.46726553C>TCA474043578F2c.930C>T (p.Ala310=)
c.900C>T (p.Ala300=)
c.882C>T (p.Ala294=)
n.974C>T
n.965C>T
 dbSNP
11g.46726554A>CCA380266695F2c.931A>C (p.Ile311Leu)
c.901A>C (p.Ile301Leu)
c.883A>C (p.Ile295Leu)
n.975A>C
n.966A>C
11g.46726554A>GCA380266693F2c.931A>G (p.Ile311Val)
c.901A>G (p.Ile301Val)
c.883A>G (p.Ile295Val)
n.975A>G
n.966A>G
11g.46726554A>TCA380266690F2c.931A>T (p.Ile311Phe)
c.901A>T (p.Ile301Phe)
c.883A>T (p.Ile295Phe)
n.975A>T
n.966A>T
11g.46726555T>ACA380266698F2c.932T>A (p.Ile311Asn)
c.902T>A (p.Ile301Asn)
c.884T>A (p.Ile295Asn)
n.976T>A
n.967T>A
11g.46726555T>CCA380266700F2c.932T>C (p.Ile311Thr)
c.902T>C (p.Ile301Thr)
c.884T>C (p.Ile295Thr)
n.976T>C
n.967T>C
11g.46726555T>GCA380266702F2c.932T>G (p.Ile311Ser)
c.902T>G (p.Ile301Ser)
c.884T>G (p.Ile295Ser)
n.976T>G
n.967T>G
11g.46726556C>ACA474043585F2c.933C>A (p.Ile311=)
c.903C>A (p.Ile301=)
c.885C>A (p.Ile295=)
n.977C>A
n.968C>A
11g.46726556C=CA1969072735F2c.933C= (p.Ile311=)
c.903C= (p.Ile301=)
c.885C= (p.Ile295=)
n.977C=
n.968C=
11g.46726556C>GCA380266705F2c.933C>G (p.Ile311Met)
c.903C>G (p.Ile301Met)
c.885C>G (p.Ile295Met)
n.977C>G
n.968C>G
 dbSNP gnomAD v2 gnomAD v4
11g.46726556C>TCA5967108F2c.933C>T (p.Ile311=)
c.903C>T (p.Ile301=)
c.885C>T (p.Ile295=)
n.977C>T
n.968C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.46726557G>ACA5967109F2c.934G>A (p.Glu312Lys)
c.904G>A (p.Glu302Lys)
c.886G>A (p.Glu296Lys)
n.978G>A
n.969G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.46726557G>CCA380266709F2c.934G>C (p.Glu312Gln)
c.904G>C (p.Glu302Gln)
c.886G>C (p.Glu296Gln)
n.978G>C
n.969G>C
11g.46726557G=CA1969072739F2c.934G= (p.Glu312=)
c.904G= (p.Glu302=)
c.886G= (p.Glu296=)
n.978G=
n.969G=
11g.46726557G>TCA380266711F2c.934G>T (p.Glu312Ter)
c.904G>T (p.Glu302Ter)
c.886G>T (p.Glu296Ter)
n.978G>T
n.969G>T
11g.46726558A=CA1969072743F2c.935A= (p.Glu312=)
c.905A= (p.Glu302=)
c.887A= (p.Glu296=)
n.979A=
n.970A=
11g.46726558A>CCA380266712F2c.935A>C (p.Glu312Ala)
c.905A>C (p.Glu302Ala)
c.887A>C (p.Glu296Ala)
n.979A>C
n.970A>C
11g.46726558A>GCA380266713F2c.935A>G (p.Glu312Gly)
c.905A>G (p.Glu302Gly)
c.887A>G (p.Glu296Gly)
n.979A>G
n.970A>G
 dbSNP gnomAD v2 gnomAD v4
11g.46726558A>TCA380266714F2c.935A>T (p.Glu312Val)
c.905A>T (p.Glu302Val)
c.887A>T (p.Glu296Val)
n.979A>T
n.970A>T
11g.46726559A>CCA380266715F2c.936A>C (p.Glu312Asp)
c.906A>C (p.Glu302Asp)
c.888A>C (p.Glu296Asp)
n.980A>C
n.971A>C
11g.46726559A>GCA474043594F2c.936A>G (p.Glu312=)
c.906A>G (p.Glu302=)
c.888A>G (p.Glu296=)
n.980A>G
n.971A>G
 ClinVar gnomAD v4
11g.46726559A>TCA380266716F2c.936A>T (p.Glu312Asp)
c.906A>T (p.Glu302Asp)
c.888A>T (p.Glu296Asp)
n.980A>T
n.971A>T
11g.46726560G>ACA380266720F2c.937G>A (p.Gly313Arg)
c.907G>A (p.Gly303Arg)
c.889G>A (p.Gly297Arg)
n.981G>A
n.972G>A
 dbSNP
11g.46726560G>CCA380266717F2c.937G>C (p.Gly313Arg)
c.907G>C (p.Gly303Arg)
c.889G>C (p.Gly297Arg)
n.981G>C
n.972G>C
11g.46726560G>TCA380266718F2c.937G>T (p.Gly313Trp)
c.907G>T (p.Gly303Trp)
c.889G>T (p.Gly297Trp)
n.981G>T
n.972G>T
11g.46726561G>ACA380266722F2c.938G>A (p.Gly313Glu)
c.908G>A (p.Gly303Glu)
c.890G>A (p.Gly297Glu)
n.982G>A
n.973G>A
11g.46726561G>CCA380266724F2c.938G>C (p.Gly313Ala)
c.908G>C (p.Gly303Ala)
c.890G>C (p.Gly297Ala)
n.982G>C
n.973G>C
11g.46726561G>TCA380266726F2c.938G>T (p.Gly313Val)
c.908G>T (p.Gly303Val)
c.890G>T (p.Gly297Val)
n.982G>T
n.973G>T
11g.46726562G>ACA474043603F2c.939G>A (p.Gly313=)
c.909G>A (p.Gly303=)
c.891G>A (p.Gly297=)
n.983G>A
n.974G>A
11g.46726562G>CCA474043600F2c.939G>C (p.Gly313=)
c.909G>C (p.Gly303=)
c.891G>C (p.Gly297=)
n.983G>C
n.974G>C
 dbSNP gnomAD v4
11g.46726562G=CA1969072746F2c.939G= (p.Gly313=)
c.909G= (p.Gly303=)
c.891G= (p.Gly297=)
n.983G=
n.974G=
11g.46726562G>TCA474043602F2c.939G>T (p.Gly313=)
c.909G>T (p.Gly303=)
c.891G>T (p.Gly297=)
n.983G>T
n.974G>T
11g.46726563C>ACA380266730F2c.940C>A (p.Arg314Ser)
c.910C>A (p.Arg304Ser)
c.892C>A (p.Arg298Ser)
n.984C>A
n.975C>A
 ClinVar gnomAD v4
11g.46726563C=CA1969072750F2c.940C= (p.Arg314=)
c.910C= (p.Arg304=)
c.892C= (p.Arg298=)
n.984C=
n.975C=
11g.46726563C>GCA380266732F2c.940C>G (p.Arg314Gly)
c.910C>G (p.Arg304Gly)
c.892C>G (p.Arg298Gly)
n.984C>G
n.975C>G
11g.46726563C>TCA123003F2c.940C>T (p.Arg314Cys)
c.910C>T (p.Arg304Cys)
c.892C>T (p.Arg298Cys)
n.984C>T
n.975C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched