Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.112756622delCA175014CKAP2Lc.751del (p.Ser251AlafsTer6)
c.478+273del (n.478+273del)
c.256del (p.Ser86AlafsTer6)
n.557+273del
n.489+273del
 ClinVar dbSNP
2g.112756622T>ACA348297528CKAP2Lc.749A>T (p.Gln250Leu)
c.478+271A>T (n.478+271A>T)
c.254A>T (p.Gln85Leu)
n.557+271A>T
n.489+271A>T
2g.112756622T>CCA348297529CKAP2Lc.749A>G (p.Gln250Arg)
c.478+271A>G (n.478+271A>G)
c.254A>G (p.Gln85Arg)
n.557+271A>G
n.489+271A>G
2g.112756622T>GCA348297530CKAP2Lc.749A>C (p.Gln250Pro)
c.478+271A>C (n.478+271A>C)
c.254A>C (p.Gln85Pro)
n.557+271A>C
n.489+271A>C
2g.112756623G>ACA348297533CKAP2Lc.748C>T (p.Gln250Ter)
c.478+270C>T (n.478+270C>T)
c.253C>T (p.Gln85Ter)
n.557+270C>T
n.489+270C>T
2g.112756623G>CCA348297531CKAP2Lc.748C>G (p.Gln250Glu)
c.478+270C>G (n.478+270C>G)
c.253C>G (p.Gln85Glu)
n.557+270C>G
n.489+270C>G
2g.112756623G>TCA348297532CKAP2Lc.748C>A (p.Gln250Lys)
c.478+270C>A (n.478+270C>A)
c.253C>A (p.Gln85Lys)
n.557+270C>A
n.489+270C>A
2g.112756624T>ACA428553802CKAP2Lc.747A>T (p.Thr249=)
c.478+269A>T (n.478+269A>T)
c.252A>T (p.Thr84=)
n.557+269A>T
n.489+269A>T
2g.112756624T>CCA428553803CKAP2Lc.747A>G (p.Thr249=)
c.478+269A>G (n.478+269A>G)
c.252A>G (p.Thr84=)
n.557+269A>G
n.489+269A>G
 gnomAD v4
2g.112756624T>GCA428553804CKAP2Lc.747A>C (p.Thr249=)
c.478+269A>C (n.478+269A>C)
c.252A>C (p.Thr84=)
n.557+269A>C
n.489+269A>C
2g.112756625G>ACA348297534CKAP2Lc.746C>T (p.Thr249Ile)
c.478+268C>T (n.478+268C>T)
c.251C>T (p.Thr84Ile)
n.557+268C>T
n.489+268C>T
2g.112756625G>CCA348297535CKAP2Lc.746C>G (p.Thr249Arg)
c.478+268C>G (n.478+268C>G)
c.251C>G (p.Thr84Arg)
n.557+268C>G
n.489+268C>G
2g.112756625G=CA1279906487CKAP2Lc.746C= (p.Thr249=)
c.478+268C= (n.478+268C=)
c.251C= (p.Thr84=)
n.557+268C=
n.489+268C=
2g.112756625G>TCA348297536CKAP2Lc.746C>A (p.Thr249Lys)
c.478+268C>A (n.478+268C>A)
c.251C>A (p.Thr84Lys)
n.557+268C>A
n.489+268C>A
 dbSNP gnomAD v4
2g.112756626T>ACA348297537CKAP2Lc.745A>T (p.Thr249Ser)
c.478+267A>T (n.478+267A>T)
c.250A>T (p.Thr84Ser)
n.557+267A>T
n.489+267A>T
2g.112756626T>CCA1836800CKAP2Lc.745A>G (p.Thr249Ala)
c.478+267A>G (n.478+267A>G)
c.250A>G (p.Thr84Ala)
n.557+267A>G
n.489+267A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.112756626T>GCA348297538CKAP2Lc.745A>C (p.Thr249Pro)
c.478+267A>C (n.478+267A>C)
c.250A>C (p.Thr84Pro)
n.557+267A>C
n.489+267A>C
2g.112756626T=CA1279906488CKAP2Lc.745A= (p.Thr249=)
c.478+267A= (n.478+267A=)
c.250A= (p.Thr84=)
n.557+267A=
n.489+267A=
2g.112756627T>ACA348297539CKAP2Lc.744A>T (p.Glu248Asp)
c.478+266A>T (n.478+266A>T)
c.249A>T (p.Glu83Asp)
n.557+266A>T
n.489+266A>T
2g.112756627T>CCA428553805CKAP2Lc.744A>G (p.Glu248=)
c.478+266A>G (n.478+266A>G)
c.249A>G (p.Glu83=)
n.557+266A>G
n.489+266A>G
 dbSNP gnomAD v4
2g.112756627T>GCA348297540CKAP2Lc.744A>C (p.Glu248Asp)
c.478+266A>C (n.478+266A>C)
c.249A>C (p.Glu83Asp)
n.557+266A>C
n.489+266A>C
2g.112756627T=CA1279906489CKAP2Lc.744A= (p.Glu248=)
c.478+266A= (n.478+266A=)
c.249A= (p.Glu83=)
n.557+266A=
n.489+266A=
2g.112756628T>ACA348297541CKAP2Lc.743A>T (p.Glu248Val)
c.478+265A>T (n.478+265A>T)
c.248A>T (p.Glu83Val)
n.557+265A>T
n.489+265A>T
2g.112756628T>CCA348297542CKAP2Lc.743A>G (p.Glu248Gly)
c.478+265A>G (n.478+265A>G)
c.248A>G (p.Glu83Gly)
n.557+265A>G
n.489+265A>G
2g.112756628T>GCA348297543CKAP2Lc.743A>C (p.Glu248Ala)
c.478+265A>C (n.478+265A>C)
c.248A>C (p.Glu83Ala)
n.557+265A>C
n.489+265A>C
2g.112756629C>ACA348297545CKAP2Lc.742G>T (p.Glu248Ter)
c.478+264G>T (n.478+264G>T)
c.247G>T (p.Glu83Ter)
n.557+264G>T
n.489+264G>T
2g.112756629C>GCA348297546CKAP2Lc.742G>C (p.Glu248Gln)
c.478+264G>C (n.478+264G>C)
c.247G>C (p.Glu83Gln)
n.557+264G>C
n.489+264G>C
2g.112756629C>TCA348297544CKAP2Lc.742G>A (p.Glu248Lys)
c.478+264G>A (n.478+264G>A)
c.247G>A (p.Glu83Lys)
n.557+264G>A
n.489+264G>A
 gnomAD v4
2g.112756630T>ACA428553808CKAP2Lc.741A>T (p.Gly247=)
c.478+263A>T (n.478+263A>T)
c.246A>T (p.Gly82=)
n.557+263A>T
n.489+263A>T
2g.112756630T>CCA428553807CKAP2Lc.741A>G (p.Gly247=)
c.478+263A>G (n.478+263A>G)
c.246A>G (p.Gly82=)
n.557+263A>G
n.489+263A>G
 dbSNP
2g.112756630T>GCA428553806CKAP2Lc.741A>C (p.Gly247=)
c.478+263A>C (n.478+263A>C)
c.246A>C (p.Gly82=)
n.557+263A>C
n.489+263A>C
 gnomAD v4
2g.112756630T=CA1279906490CKAP2Lc.741A= (p.Gly247=)
c.478+263A= (n.478+263A=)
c.246A= (p.Gly82=)
n.557+263A=
n.489+263A=
2g.112756631C>ACA348297548CKAP2Lc.740G>T (p.Gly247Val)
c.478+262G>T (n.478+262G>T)
c.245G>T (p.Gly82Val)
n.557+262G>T
n.489+262G>T
2g.112756631C=CA1279906491CKAP2Lc.740G= (p.Gly247=)
c.478+262G= (n.478+262G=)
c.245G= (p.Gly82=)
n.557+262G=
n.489+262G=
2g.112756631C>GCA348297547CKAP2Lc.740G>C (p.Gly247Ala)
c.478+262G>C (n.478+262G>C)
c.245G>C (p.Gly82Ala)
n.557+262G>C
n.489+262G>C
2g.112756631C>TCA348297549CKAP2Lc.740G>A (p.Gly247Glu)
c.478+262G>A (n.478+262G>A)
c.245G>A (p.Gly82Glu)
n.557+262G>A
n.489+262G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.112756632C>ACA348297550CKAP2Lc.739G>T (p.Gly247Ter)
c.478+261G>T (n.478+261G>T)
c.244G>T (p.Gly82Ter)
n.557+261G>T
n.489+261G>T
2g.112756632C>GCA348297551CKAP2Lc.739G>C (p.Gly247Arg)
c.478+261G>C (n.478+261G>C)
c.244G>C (p.Gly82Arg)
n.557+261G>C
n.489+261G>C
2g.112756632C>TCA348297552CKAP2Lc.739G>A (p.Gly247Arg)
c.478+261G>A (n.478+261G>A)
c.244G>A (p.Gly82Arg)
n.557+261G>A
n.489+261G>A
 COSMIC
2g.112756633A>CCA428553811CKAP2Lc.738T>G (p.Val246=)
c.478+260T>G (n.478+260T>G)
c.243T>G (p.Val81=)
n.557+260T>G
n.489+260T>G
2g.112756633A>GCA428553809CKAP2Lc.738T>C (p.Val246=)
c.478+260T>C (n.478+260T>C)
c.243T>C (p.Val81=)
n.557+260T>C
n.489+260T>C
2g.112756633A>TCA428553810CKAP2Lc.738T>A (p.Val246=)
c.478+260T>A (n.478+260T>A)
c.243T>A (p.Val81=)
n.557+260T>A
n.489+260T>A
2g.112756634A=CA1279906492CKAP2Lc.737T= (p.Val246=)
c.478+259T= (n.478+259T=)
c.242T= (p.Val81=)
n.557+259T=
n.489+259T=
2g.112756634A>CCA348297553CKAP2Lc.737T>G (p.Val246Gly)
c.478+259T>G (n.478+259T>G)
c.242T>G (p.Val81Gly)
n.557+259T>G
n.489+259T>G
2g.112756634A>GCA1836801CKAP2Lc.737T>C (p.Val246Ala)
c.478+259T>C (n.478+259T>C)
c.242T>C (p.Val81Ala)
n.557+259T>C
n.489+259T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.112756634A>TCA348297554CKAP2Lc.737T>A (p.Val246Asp)
c.478+259T>A (n.478+259T>A)
c.242T>A (p.Val81Asp)
n.557+259T>A
n.489+259T>A
2g.112756635C>ACA348297555CKAP2Lc.736G>T (p.Val246Phe)
c.478+258G>T (n.478+258G>T)
c.241G>T (p.Val81Phe)
n.557+258G>T
n.489+258G>T
 dbSNP gnomAD v3 gnomAD v4
2g.112756635C=CA1279906493CKAP2Lc.736G= (p.Val246=)
c.478+258G= (n.478+258G=)
c.241G= (p.Val81=)
n.557+258G=
n.489+258G=
2g.112756635C>GCA1836802CKAP2Lc.736G>C (p.Val246Leu)
c.478+258G>C (n.478+258G>C)
c.241G>C (p.Val81Leu)
n.557+258G>C
n.489+258G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.112756635C>TCA348297556CKAP2Lc.736G>A (p.Val246Ile)
c.478+258G>A (n.478+258G>A)
c.241G>A (p.Val81Ile)
n.557+258G>A
n.489+258G>A

Number of alleles fetched