Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched