Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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

Number of alleles fetched