Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31598039_31598579delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACACA2293889082TTRc.337-529_348delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA
c.241-529_252delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA
c.431-34_462delinsGGGCTTGGAGACAGGAGACTTGCCTTCCTACTATGGTTCCATCAGAATGTAGACTGGGACAATACAATAATTCAAGTCTGGTTTGCTCATCTGTAAATTGGGAAGAATGTTTCCAGCTCCAGAATGCTAAATCTCTAAGTCTGTGGTTGGCAGCCACTATTGCAGCAGCTCTTCAATGACTCAATGCAGTTTTGCATTCTCCCTACCTTTTTTTTCTAAAACCAATAAAATAGATACAGCCTTTAGGCTTTCTGGGATTTCCCTTAGTCAAGCTAGGGTCATCCTGACTTTCGGCGTGAATTTGCAAAACAAGACCTGACTCTGTACTCCTGCTCTAAGGACTGTGCATGGTTCCAAAGGCTTAGCTTGCCAGCATATTTGAGCTTTTTCCTTCTGTTCAAACTGTTCCAAAATATAAAAGAATAAAATTAATTAAGTTGGCACTGGACTTCCGGTGGTCAGTCATGTGTGTCATCTGTCACGTTTTTCGGGCTCTGGTGGAAATGGATCTGTCTGTCTTCTCTCATAGGTGGTATTCACA
18g.31598041_31598580delCA916081932TTRc.337-527_349del
c.241-527_253del
c.431-32_463del
 ClinVar dbSNP
18g.31598505_31598513dupCA2812000706TTRc.337-63_337-55dup (n.337-63_337-55dup)
c.241-63_241-55dup (n.241-63_241-55dup)
c.451-63_451-55dup (n.451-63_451-55dup)
18g.31598511C>ACA2641410488TTRc.337-57C>A (n.337-57C>A)
c.241-57C>A (n.241-57C>A)
c.451-57C>A (n.451-57C>A)
 gnomAD v4
18g.31598512A=CA2293889291TTRc.337-56A= (n.337-56A=)
c.241-56A= (n.241-56A=)
c.451-56A= (n.451-56A=)
18g.31598512A>GCA2641410489TTRc.337-56A>G (n.337-56A>G)
c.241-56A>G (n.241-56A>G)
c.451-56A>G (n.451-56A>G)
 gnomAD v4
18g.31598512A>TCA629155250TTRc.337-56A>T (n.337-56A>T)
c.241-56A>T (n.241-56A>T)
c.451-56A>T (n.451-56A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31598513T>CCA2641410490TTRc.337-55T>C (n.337-55T>C)
c.241-55T>C (n.241-55T>C)
c.451-55T>C (n.451-55T>C)
 gnomAD v4
18g.31598514C>TCA2641410491TTRc.337-54C>T (n.337-54C>T)
c.241-54C>T (n.241-54C>T)
c.451-54C>T (n.451-54C>T)
 gnomAD v4
18g.31598515T>CCA2591707197TTRc.337-53T>C (n.337-53T>C)
c.241-53T>C (n.241-53T>C)
c.451-53T>C (n.451-53T>C)
 gnomAD v3 gnomAD v4
18g.31598515T>GCA2641410492TTRc.337-53T>G (n.337-53T>G)
c.241-53T>G (n.241-53T>G)
c.451-53T>G (n.451-53T>G)
 gnomAD v4
18g.31598518C>ACA2504456559TTRc.337-50C>A (n.337-50C>A)
c.241-50C>A (n.241-50C>A)
c.451-50C>A (n.451-50C>A)
18g.31598519dupCA2641410493TTRc.337-49dup (n.337-49dup)
c.241-49dup (n.241-49dup)
c.451-49dup (n.451-49dup)
 gnomAD v4
18g.31598520C=CA2293889292TTRc.337-48C= (n.337-48C=)
c.241-48C= (n.241-48C=)
c.451-48C= (n.451-48C=)
18g.31598520C>TCA8928484TTRc.337-48C>T (n.337-48C>T)
c.241-48C>T (n.241-48C>T)
c.451-48C>T (n.451-48C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598521G>ACA8928485TTRc.337-47G>A (n.337-47G>A)
c.241-47G>A (n.241-47G>A)
c.451-47G>A (n.451-47G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598521G=CA2293889293TTRc.337-47G= (n.337-47G=)
c.241-47G= (n.241-47G=)
c.451-47G= (n.451-47G=)
18g.31598521G>TCA297741729TTRc.337-47G>T (n.337-47G>T)
c.241-47G>T (n.241-47G>T)
c.451-47G>T (n.451-47G>T)
 dbSNP gnomAD v2 gnomAD v4
18g.31598522T>ACA2739580345TTRc.337-46T>A (n.337-46T>A)
c.241-46T>A (n.241-46T>A)
c.451-46T>A (n.451-46T>A)
18g.31598522T>CCA2739580346TTRc.337-46T>C (n.337-46T>C)
c.241-46T>C (n.241-46T>C)
c.451-46T>C (n.451-46T>C)
18g.31598522T>GCA2739580347TTRc.337-46T>G (n.337-46T>G)
c.241-46T>G (n.241-46T>G)
c.451-46T>G (n.451-46T>G)
18g.31598525_31598526dupCA2641410494TTRc.337-43_337-42dup (n.337-43_337-42dup)
c.241-43_241-42dup (n.241-43_241-42dup)
c.451-43_451-42dup (n.451-43_451-42dup)
 gnomAD v4
18g.31598526delCA2641410495TTRc.337-42del (n.337-42del)
c.241-42del (n.241-42del)
c.451-42del (n.451-42del)
 gnomAD v4
18g.31598523T>ACA2739580348TTRc.337-45T>A (n.337-45T>A)
c.241-45T>A (n.241-45T>A)
c.451-45T>A (n.451-45T>A)
18g.31598523T>GCA2739580349TTRc.337-45T>G (n.337-45T>G)
c.241-45T>G (n.241-45T>G)
c.451-45T>G (n.451-45T>G)
18g.31598524T>ACA2739580351TTRc.337-44T>A (n.337-44T>A)
c.241-44T>A (n.241-44T>A)
c.451-44T>A (n.451-44T>A)
18g.31598524T>CCA2739580350TTRc.337-44T>C (n.337-44T>C)
c.241-44T>C (n.241-44T>C)
c.451-44T>C (n.451-44T>C)
18g.31598524T>GCA2641410496TTRc.337-44T>G (n.337-44T>G)
c.241-44T>G (n.241-44T>G)
c.451-44T>G (n.451-44T>G)
 gnomAD v4
18g.31598525T>ACA2739580352TTRc.337-43T>A (n.337-43T>A)
c.241-43T>A (n.241-43T>A)
c.451-43T>A (n.451-43T>A)
18g.31598525T>CCA2293889295TTRc.337-43T>C (n.337-43T>C)
c.241-43T>C (n.241-43T>C)
c.451-43T>C (n.451-43T>C)
 dbSNP
18g.31598525T>GCA2739580353TTRc.337-43T>G (n.337-43T>G)
c.241-43T>G (n.241-43T>G)
c.451-43T>G (n.451-43T>G)
18g.31598525T=CA2293889294TTRc.337-43T= (n.337-43T=)
c.241-43T= (n.241-43T=)
c.451-43T= (n.451-43T=)
18g.31598526T>ACA2739580354TTRc.337-42T>A (n.337-42T>A)
c.241-42T>A (n.241-42T>A)
c.451-42T>A (n.451-42T>A)
18g.31598526T>GCA2739580355TTRc.337-42T>G (n.337-42T>G)
c.241-42T>G (n.241-42T>G)
c.451-42T>G (n.451-42T>G)
18g.31598527C>ACA2556372458TTRc.337-41C>A (n.337-41C>A)
c.241-41C>A (n.241-41C>A)
c.451-41C>A (n.451-41C>A)
18g.31598527C=CA2293889296TTRc.337-41C= (n.337-41C=)
c.241-41C= (n.241-41C=)
c.451-41C= (n.451-41C=)
18g.31598527C>GCA2739580356TTRc.337-41C>G (n.337-41C>G)
c.241-41C>G (n.241-41C>G)
c.451-41C>G (n.451-41C>G)
18g.31598527C>TCA8928486TTRc.337-41C>T (n.337-41C>T)
c.241-41C>T (n.241-41C>T)
c.451-41C>T (n.451-41C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598528G>ACA8928487TTRc.337-40G>A (n.337-40G>A)
c.241-40G>A (n.241-40G>A)
c.451-40G>A (n.451-40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598528G>CCA297741736TTRc.337-40G>C (n.337-40G>C)
c.241-40G>C (n.241-40G>C)
c.451-40G>C (n.451-40G>C)
 dbSNP gnomAD v2 gnomAD v4
18g.31598528G=CA2293889297TTRc.337-40G= (n.337-40G=)
c.241-40G= (n.241-40G=)
c.451-40G= (n.451-40G=)
18g.31598528G>TCA2739580357TTRc.337-40G>T (n.337-40G>T)
c.241-40G>T (n.241-40G>T)
c.451-40G>T (n.451-40G>T)
18g.31598529G=CA2293889298TTRc.337-39G= (n.337-39G=)
c.241-39G= (n.241-39G=)
c.451-39G= (n.451-39G=)
18g.31598529G>TCA8928488TTRc.337-39G>T (n.337-39G>T)
c.241-39G>T (n.241-39G>T)
c.451-39G>T (n.451-39G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598530G>ACA2739580358TTRc.337-38G>A (n.337-38G>A)
c.241-38G>A (n.241-38G>A)
c.451-38G>A (n.451-38G>A)
18g.31598530G>CCA2739580359TTRc.337-38G>C (n.337-38G>C)
c.241-38G>C (n.241-38G>C)
c.451-38G>C (n.451-38G>C)
18g.31598530G=CA2293889299TTRc.337-38G= (n.337-38G=)
c.241-38G= (n.241-38G=)
c.451-38G= (n.451-38G=)
18g.31598530G>TCA2293889300TTRc.337-38G>T (n.337-38G>T)
c.241-38G>T (n.241-38G>T)
c.451-38G>T (n.451-38G>T)
 dbSNP
18g.31598531C>ACA2641410497TTRc.337-37C>A (n.337-37C>A)
c.241-37C>A (n.241-37C>A)
c.451-37C>A (n.451-37C>A)
 gnomAD v4
18g.31598531C=CA2293889301TTRc.337-37C= (n.337-37C=)
c.241-37C= (n.241-37C=)
c.451-37C= (n.451-37C=)
18g.31598531C>GCA2739580360TTRc.337-37C>G (n.337-37C>G)
c.241-37C>G (n.241-37C>G)
c.451-37C>G (n.451-37C>G)
18g.31598531C>TCA2293889302TTRc.337-37C>T (n.337-37C>T)
c.241-37C>T (n.241-37C>T)
c.451-37C>T (n.451-37C>T)
 dbSNP gnomAD v4
18g.31598533C>ACA2739580361TTRc.337-35C>A (n.337-35C>A)
c.241-35C>A (n.241-35C>A)
c.451-35C>A (n.451-35C>A)
18g.31598533C=CA2293889303TTRc.337-35C= (n.337-35C=)
c.241-35C= (n.241-35C=)
c.451-35C= (n.451-35C=)
18g.31598533C>GCA629155251TTRc.337-35C>G (n.337-35C>G)
c.241-35C>G (n.241-35C>G)
c.451-35C>G (n.451-35C>G)
 dbSNP gnomAD v2 gnomAD v4
18g.31598533C>TCA2812000713TTRc.337-35C>T (n.337-35C>T)
c.241-35C>T (n.241-35C>T)
c.451-35C>T (n.451-35C>T)
18g.31598534T>ACA2641410498TTRc.337-34T>A (n.337-34T>A)
c.241-34T>A (n.241-34T>A)
c.451-34T>A (n.451-34T>A)
 gnomAD v4
18g.31598534T>CCA2739580362TTRc.337-34T>C (n.337-34T>C)
c.241-34T>C (n.241-34T>C)
c.451-34T>C (n.451-34T>C)
18g.31598534T>GCA2739580363TTRc.337-34T>G (n.337-34T>G)
c.241-34T>G (n.241-34T>G)
c.451-34T>G (n.451-34T>G)
18g.31598535G>ACA2293889305TTRc.337-33G>A (n.337-33G>A)
c.241-33G>A (n.241-33G>A)
c.451-33G>A (n.451-33G>A)
 dbSNP
18g.31598535G=CA2293889304TTRc.337-33G= (n.337-33G=)
c.241-33G= (n.241-33G=)
c.451-33G= (n.451-33G=)
18g.31598535G>TCA629155252TTRc.337-33G>T (n.337-33G>T)
c.241-33G>T (n.241-33G>T)
c.451-33G>T (n.451-33G>T)
 dbSNP gnomAD v2 gnomAD v4
18g.31598536G>ACA8928489TTRc.337-32G>A (n.337-32G>A)
c.241-32G>A (n.241-32G>A)
c.451-32G>A (n.451-32G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598536G>CCA2739580364TTRc.337-32G>C (n.337-32G>C)
c.241-32G>C (n.241-32G>C)
c.451-32G>C (n.451-32G>C)
18g.31598536G=CA2293889306TTRc.337-32G= (n.337-32G=)
c.241-32G= (n.241-32G=)
c.451-32G= (n.451-32G=)
18g.31598536G>TCA2739580365TTRc.337-32G>T (n.337-32G>T)
c.241-32G>T (n.241-32G>T)
c.451-32G>T (n.451-32G>T)
18g.31598537T>ACA2739580368TTRc.337-31T>A (n.337-31T>A)
c.241-31T>A (n.241-31T>A)
c.451-31T>A (n.451-31T>A)
18g.31598537T>CCA2739580367TTRc.337-31T>C (n.337-31T>C)
c.241-31T>C (n.241-31T>C)
c.451-31T>C (n.451-31T>C)
18g.31598537T>GCA2739580366TTRc.337-31T>G (n.337-31T>G)
c.241-31T>G (n.241-31T>G)
c.451-31T>G (n.451-31T>G)
18g.31598539G>ACA2739580369TTRc.337-29G>A (n.337-29G>A)
c.241-29G>A (n.241-29G>A)
c.451-29G>A (n.451-29G>A)
18g.31598539G>CCA2293889308TTRc.337-29G>C (n.337-29G>C)
c.241-29G>C (n.241-29G>C)
c.451-29G>C (n.451-29G>C)
 dbSNP gnomAD v4
18g.31598539G=CA2293889307TTRc.337-29G= (n.337-29G=)
c.241-29G= (n.241-29G=)
c.451-29G= (n.451-29G=)
18g.31598539G>TCA2565012467TTRc.337-29G>T (n.337-29G>T)
c.241-29G>T (n.241-29G>T)
c.451-29G>T (n.451-29G>T)
18g.31598540A>CCA2739580370TTRc.337-28A>C (n.337-28A>C)
c.241-28A>C (n.241-28A>C)
c.451-28A>C (n.451-28A>C)
18g.31598540A>GCA2739580371TTRc.337-28A>G (n.337-28A>G)
c.241-28A>G (n.241-28A>G)
c.451-28A>G (n.451-28A>G)
18g.31598540A>TCA2739580372TTRc.337-28A>T (n.337-28A>T)
c.241-28A>T (n.241-28A>T)
c.451-28A>T (n.451-28A>T)
18g.31598541A>CCA2739580373TTRc.337-27A>C (n.337-27A>C)
c.241-27A>C (n.241-27A>C)
c.451-27A>C (n.451-27A>C)
18g.31598541A>TCA2739580374TTRc.337-27A>T (n.337-27A>T)
c.241-27A>T (n.241-27A>T)
c.451-27A>T (n.451-27A>T)
18g.31598542A=CA2293889309TTRc.337-26A= (n.337-26A=)
c.241-26A= (n.241-26A=)
c.451-26A= (n.451-26A=)
18g.31598542A>CCA778418211TTRc.337-26A>C (n.337-26A>C)
c.241-26A>C (n.241-26A>C)
c.451-26A>C (n.451-26A>C)
 dbSNP gnomAD v3 gnomAD v4
18g.31598543T>GCA629155253TTRc.337-25T>G (n.337-25T>G)
c.241-25T>G (n.241-25T>G)
c.451-25T>G (n.451-25T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31598543T=CA2293889310TTRc.337-25T= (n.337-25T=)
c.241-25T= (n.241-25T=)
c.451-25T= (n.451-25T=)
18g.31598544G>ACA8928491TTRc.337-24G>A (n.337-24G>A)
c.241-24G>A (n.241-24G>A)
c.451-24G>A (n.451-24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598544G>CCA8928490TTRc.337-24G>C (n.337-24G>C)
c.241-24G>C (n.241-24G>C)
c.451-24G>C (n.451-24G>C)
 dbSNP ExAC gnomAD v2
18g.31598544G=CA2293889311TTRc.337-24G= (n.337-24G=)
c.241-24G= (n.241-24G=)
c.451-24G= (n.451-24G=)
18g.31598545G>ACA988926001TTRc.337-23G>A (n.337-23G>A)
c.241-23G>A (n.241-23G>A)
c.451-23G>A (n.451-23G>A)
 dbSNP gnomAD v3 gnomAD v4
18g.31598545G=CA2293889312TTRc.337-23G= (n.337-23G=)
c.241-23G= (n.241-23G=)
c.451-23G= (n.451-23G=)
18g.31598545G>TCA8928492TTRc.337-23G>T (n.337-23G>T)
c.241-23G>T (n.241-23G>T)
c.451-23G>T (n.451-23G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598546A=CA2293889314TTRc.337-22A= (n.337-22A=)
c.241-22A= (n.241-22A=)
c.451-22A= (n.451-22A=)
18g.31598546A>CCA2641410499TTRc.337-22A>C (n.337-22A>C)
c.241-22A>C (n.241-22A>C)
c.451-22A>C (n.451-22A>C)
 gnomAD v4
18g.31598546A>GCA778418215TTRc.337-22A>G (n.337-22A>G)
c.241-22A>G (n.241-22A>G)
c.451-22A>G (n.451-22A>G)
 dbSNP
18g.31598546A>TCA778418219TTRc.337-22A>T (n.337-22A>T)
c.241-22A>T (n.241-22A>T)
c.451-22A>T (n.451-22A>T)
 dbSNP
18g.31598546_31598550delinsATCTGCA2293889313TTRc.337-22_337-18delinsATCTG (n.337-22_337-18delinsATCTG)
c.241-22_241-18delinsATCTG (n.241-22_241-18delinsATCTG)
c.451-22_451-18delinsATCTG (n.451-22_451-18delinsATCTG)
18g.31598547T>CCA2641410500TTRc.337-21T>C (n.337-21T>C)
c.241-21T>C (n.241-21T>C)
c.451-21T>C (n.451-21T>C)
 gnomAD v4
18g.31598554_31598557delCA182751TTRc.337-14_337-11del (n.337-14_337-11del)
c.241-14_241-11del (n.241-14_241-11del)
c.451-14_451-11del (n.451-14_451-11del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598549T>CCA297741794TTRc.337-19T>C (n.337-19T>C)
c.241-19T>C (n.241-19T>C)
c.451-19T>C (n.451-19T>C)
 dbSNP gnomAD v2
18g.31598549T=CA2293889315TTRc.337-19T= (n.337-19T=)
c.241-19T= (n.241-19T=)
c.451-19T= (n.451-19T=)
18g.31598550G>ACA2293889317TTRc.337-18G>A (n.337-18G>A)
c.241-18G>A (n.241-18G>A)
c.451-18G>A (n.451-18G>A)
 dbSNP
18g.31598550G>CCA325782TTRc.337-18G>C (n.337-18G>C)
c.241-18G>C (n.241-18G>C)
c.451-18G>C (n.451-18G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598550G=CA2293889316TTRc.337-18G= (n.337-18G=)
c.241-18G= (n.241-18G=)
c.451-18G= (n.451-18G=)
18g.31598550G>TCA2580582782TTRc.337-18G>T (n.337-18G>T)
c.241-18G>T (n.241-18G>T)
c.451-18G>T (n.451-18G>T)
18g.31598552C>ACA2812000717TTRc.337-16C>A (n.337-16C>A)
c.241-16C>A (n.241-16C>A)
c.451-16C>A (n.451-16C>A)
18g.31598552C=CA2293889318TTRc.337-16C= (n.337-16C=)
c.241-16C= (n.241-16C=)
c.451-16C= (n.451-16C=)
18g.31598552C>GCA8928493TTRc.337-16C>G (n.337-16C>G)
c.241-16C>G (n.241-16C>G)
c.451-16C>G (n.451-16C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598555T>CCA8928494TTRc.337-13T>C (n.337-13T>C)
c.241-13T>C (n.241-13T>C)
c.451-13T>C (n.451-13T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598555T=CA2293889319TTRc.337-13T= (n.337-13T=)
c.241-13T= (n.241-13T=)
c.451-13T= (n.451-13T=)
18g.31598556C=CA2293889320TTRc.337-12C= (n.337-12C=)
c.241-12C= (n.241-12C=)
c.451-12C= (n.451-12C=)
18g.31598556C>TCA8928495TTRc.337-12C>T (n.337-12C>T)
c.241-12C>T (n.241-12C>T)
c.451-12C>T (n.451-12C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598559C>TCA2641410501TTRc.337-9C>T (n.337-9C>T)
c.241-9C>T (n.241-9C>T)
c.451-9C>T (n.451-9C>T)
 gnomAD v4
18g.31598560T>CCA2576480665TTRc.337-8T>C (n.337-8T>C)
c.241-8T>C (n.241-8T>C)
c.451-8T>C (n.451-8T>C)
18g.31598561C>TCA2576480666TTRc.337-7C>T (n.337-7C>T)
c.241-7C>T (n.241-7C>T)
c.451-7C>T (n.451-7C>T)
18g.31598565T>CCA8928496TTRc.337-3T>C (n.337-3T>C)
c.241-3T>C (n.241-3T>C)
c.451-3T>C (n.451-3T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598565T>GCA2739265773TTRc.337-3T>G (n.337-3T>G)
c.241-3T>G (n.241-3T>G)
c.451-3T>G (n.451-3T>G)
 ClinVar
18g.31598565T=CA2293889321TTRc.337-3T= (n.337-3T=)
c.241-3T= (n.241-3T=)
c.451-3T= (n.451-3T=)
18g.31598566A>CCA402158098TTRc.337-2A>C (n.337-2A>C)
c.241-2A>C (n.241-2A>C)
c.451-2A>C (n.451-2A>C)
18g.31598566A>GCA402158100TTRc.337-2A>G (n.337-2A>G)
c.241-2A>G (n.241-2A>G)
c.451-2A>G (n.451-2A>G)
18g.31598566A>TCA402158101TTRc.337-2A>T (n.337-2A>T)
c.241-2A>T (n.241-2A>T)
c.451-2A>T (n.451-2A>T)
18g.31598567G>ACA402158103TTRc.337-1G>A (n.337-1G>A)
c.241-1G>A (n.241-1G>A)
c.451-1G>A (n.451-1G>A)
18g.31598567G>CCA402158105TTRc.337-1G>C (n.337-1G>C)
c.241-1G>C (n.241-1G>C)
c.451-1G>C (n.451-1G>C)
18g.31598567G>TCA402158107TTRc.337-1G>T (n.337-1G>T)
c.241-1G>T (n.241-1G>T)
c.451-1G>T (n.451-1G>T)
18g.31598568G>ACA402158108TTRc.337G>A (p.Val113Met)
c.241G>A (p.Val81Met)
c.451G>A (p.Val151Met)
 ClinVar dbSNP
18g.31598568G>CCA402158110TTRc.337G>C (p.Val113Leu)
c.241G>C (p.Val81Leu)
c.451G>C (p.Val151Leu)
 gnomAD v4
18g.31598568G=CA2293889322TTRc.337G= (p.Val113=)
c.241G= (p.Val81=)
c.451G= (p.Val151=)
18g.31598568G>TCA402158112TTRc.337G>T (p.Val113Leu)
c.241G>T (p.Val81Leu)
c.451G>T (p.Val151Leu)
18g.31598569T>ACA402158114TTRc.338T>A (p.Val113Glu)
c.242T>A (p.Val81Glu)
c.452T>A (p.Val151Glu)
18g.31598569T>CCA297741801TTRc.338T>C (p.Val113Ala)
c.242T>C (p.Val81Ala)
c.452T>C (p.Val151Ala)
 dbSNP
18g.31598569T>GCA402158117TTRc.338T>G (p.Val113Gly)
c.242T>G (p.Val81Gly)
c.452T>G (p.Val151Gly)
18g.31598569T=CA2293889323TTRc.338T= (p.Val113=)
c.242T= (p.Val81=)
c.452T= (p.Val151=)
18g.31598570G>ACA503610818TTRc.339G>A (p.Val113=)
c.243G>A (p.Val81=)
c.453G>A (p.Val151=)
 ClinVar dbSNP gnomAD v4
18g.31598570G>CCA503610819TTRc.339G>C (p.Val113=)
c.243G>C (p.Val81=)
c.453G>C (p.Val151=)
18g.31598570G=CA2293889324TTRc.339G= (p.Val113=)
c.243G= (p.Val81=)
c.453G= (p.Val151=)
18g.31598570G>TCA503610820TTRc.339G>T (p.Val113=)
c.243G>T (p.Val81=)
c.453G>T (p.Val151=)
 gnomAD v4
18g.31598571G>ACA402158119TTRc.340G>A (p.Val114Ile)
c.244G>A (p.Val82Ile)
c.454G>A (p.Val152Ile)
18g.31598571G>CCA402158123TTRc.340G>C (p.Val114Leu)
c.244G>C (p.Val82Leu)
c.454G>C (p.Val152Leu)
18g.31598571G=CA2293889325TTRc.340G= (p.Val114=)
c.244G= (p.Val82=)
c.454G= (p.Val152=)
18g.31598571G>TCA402158121TTRc.340G>T (p.Val114Leu)
c.244G>T (p.Val82Leu)
c.454G>T (p.Val152Leu)
 ClinVar dbSNP
18g.31598572T>ACA402158125TTRc.341T>A (p.Val114Glu)
c.245T>A (p.Val82Glu)
c.455T>A (p.Val152Glu)
18g.31598572T>CCA402158127TTRc.341T>C (p.Val114Ala)
c.245T>C (p.Val82Ala)
c.455T>C (p.Val152Ala)
18g.31598572T>GCA402158129TTRc.341T>G (p.Val114Gly)
c.245T>G (p.Val82Gly)
c.455T>G (p.Val152Gly)
18g.31598573A>CCA503610825TTRc.342A>C (p.Val114=)
c.246A>C (p.Val82=)
c.456A>C (p.Val152=)
18g.31598573A>GCA503610826TTRc.342A>G (p.Val114=)
c.246A>G (p.Val82=)
c.456A>G (p.Val152=)
18g.31598573A>TCA503610827TTRc.342A>T (p.Val114=)
c.246A>T (p.Val82=)
c.456A>T (p.Val152=)
18g.31598574T>ACA402158130TTRc.343T>A (p.Phe115Ile)
c.247T>A (p.Phe83Ile)
c.457T>A (p.Phe153Ile)
18g.31598574T>CCA402158131TTRc.343T>C (p.Phe115Leu)
c.247T>C (p.Phe83Leu)
c.457T>C (p.Phe153Leu)
18g.31598574T>GCA402158132TTRc.343T>G (p.Phe115Val)
c.247T>G (p.Phe83Val)
c.457T>G (p.Phe153Val)
18g.31598575T>ACA402158135TTRc.344T>A (p.Phe115Tyr)
c.248T>A (p.Phe83Tyr)
c.458T>A (p.Phe153Tyr)
18g.31598575T>CCA402158133TTRc.344T>C (p.Phe115Ser)
c.248T>C (p.Phe83Ser)
c.458T>C (p.Phe153Ser)
18g.31598575T>GCA402158134TTRc.344T>G (p.Phe115Cys)
c.248T>G (p.Phe83Cys)
c.458T>G (p.Phe153Cys)
18g.31598576C>ACA402158136TTRc.345C>A (p.Phe115Leu)
c.249C>A (p.Phe83Leu)
c.459C>A (p.Phe153Leu)
18g.31598576C>GCA402158137TTRc.345C>G (p.Phe115Leu)
c.249C>G (p.Phe83Leu)
c.459C>G (p.Phe153Leu)
18g.31598576C>TCA503610830TTRc.345C>T (p.Phe115=)
c.249C>T (p.Phe83=)
c.459C>T (p.Phe153=)
18g.31598577A>CCA402158138TTRc.346A>C (p.Thr116Pro)
c.250A>C (p.Thr84Pro)
c.460A>C (p.Thr154Pro)
18g.31598577A>GCA402158139TTRc.346A>G (p.Thr116Ala)
c.250A>G (p.Thr84Ala)
c.460A>G (p.Thr154Ala)
18g.31598577A>TCA402158140TTRc.346A>T (p.Thr116Ser)
c.250A>T (p.Thr84Ser)
c.460A>T (p.Thr154Ser)
18g.31598578C>ACA402158142TTRc.347C>A (p.Thr116Lys)
c.251C>A (p.Thr84Lys)
c.461C>A (p.Thr154Lys)
18g.31598578C>GCA402158141TTRc.347C>G (p.Thr116Arg)
c.251C>G (p.Thr84Arg)
c.461C>G (p.Thr154Arg)
 ClinVar gnomAD v4
18g.31598578C>TCA297741802TTRc.347C>T (p.Thr116Ile)
c.251C>T (p.Thr84Ile)
c.461C>T (p.Thr154Ile)
18g.31598579A=CA2293889326TTRc.348A= (p.Thr116=)
c.252A= (p.Thr84=)
c.462A= (p.Thr154=)
18g.31598579A>CCA503610836TTRc.348A>C (p.Thr116=)
c.252A>C (p.Thr84=)
c.462A>C (p.Thr154=)
18g.31598579A>GCA8928497TTRc.348A>G (p.Thr116=)
c.252A>G (p.Thr84=)
c.462A>G (p.Thr154=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598579A>TCA503610834TTRc.348A>T (p.Thr116=)
c.252A>T (p.Thr84=)
c.462A>T (p.Thr154=)
18g.31598580G>ACA402158144TTRc.349G>A (p.Ala117Thr)
c.253G>A (p.Ala85Thr)
c.463G>A (p.Ala155Thr)
18g.31598580G>CCA402158145TTRc.349G>C (p.Ala117Pro)
c.253G>C (p.Ala85Pro)
c.463G>C (p.Ala155Pro)
18g.31598580G=CA2293889327TTRc.349G= (p.Ala117=)
c.253G= (p.Ala85=)
c.463G= (p.Ala155=)
18g.31598580G>TCA256859TTRc.349G>T (p.Ala117Ser)
c.253G>T (p.Ala85Ser)
c.463G>T (p.Ala155Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31598581C>ACA402158146TTRc.350C>A (p.Ala117Asp)
c.254C>A (p.Ala85Asp)
c.464C>A (p.Ala155Asp)
 ClinVar gnomAD v4
18g.31598581C=CA2293889328TTRc.350C= (p.Ala117=)
c.254C= (p.Ala85=)
c.464C= (p.Ala155=)
18g.31598581C>GCA256841TTRc.350C>G (p.Ala117Gly)
c.254C>G (p.Ala85Gly)
c.464C>G (p.Ala155Gly)
 ClinVar dbSNP
18g.31598581C>TCA402158147TTRc.350C>T (p.Ala117Val)
c.254C>T (p.Ala85Val)
c.464C>T (p.Ala155Val)
18g.31598582C>ACA503610842TTRc.351C>A (p.Ala117=)
c.255C>A (p.Ala85=)
c.465C>A (p.Ala155=)
 gnomAD v4
18g.31598582C=CA2293889329TTRc.351C= (p.Ala117=)
c.255C= (p.Ala85=)
c.465C= (p.Ala155=)
18g.31598582C>GCA503610841TTRc.351C>G (p.Ala117=)
c.255C>G (p.Ala85=)
c.465C>G (p.Ala155=)
18g.31598582C>TCA503610840TTRc.351C>T (p.Ala117=)
c.255C>T (p.Ala85=)
c.465C>T (p.Ala155=)
 dbSNP gnomAD v3 gnomAD v4
18g.31598583A>CCA402158148TTRc.352A>C (p.Asn118His)
c.256A>C (p.Asn86His)
c.466A>C (p.Asn156His)
18g.31598583A>GCA402158149TTRc.352A>G (p.Asn118Asp)
c.256A>G (p.Asn86Asp)
c.466A>G (p.Asn156Asp)
18g.31598583A>TCA402158150TTRc.352A>T (p.Asn118Tyr)
c.256A>T (p.Asn86Tyr)
c.466A>T (p.Asn156Tyr)
18g.31598584A>CCA402158151TTRc.353A>C (p.Asn118Thr)
c.257A>C (p.Asn86Thr)
c.467A>C (p.Asn156Thr)
18g.31598584A>GCA402158152TTRc.353A>G (p.Asn118Ser)
c.257A>G (p.Asn86Ser)
c.467A>G (p.Asn156Ser)
18g.31598584A>TCA402158153TTRc.353A>T (p.Asn118Ile)
c.257A>T (p.Asn86Ile)
c.467A>T (p.Asn156Ile)
18g.31598585C>ACA402158154TTRc.354C>A (p.Asn118Lys)
c.258C>A (p.Asn86Lys)
c.468C>A (p.Asn156Lys)
18g.31598585C=CA2293889330TTRc.354C= (p.Asn118=)
c.258C= (p.Asn86=)
c.468C= (p.Asn156=)
18g.31598585C>GCA402158155TTRc.354C>G (p.Asn118Lys)
c.258C>G (p.Asn86Lys)
c.468C>G (p.Asn156Lys)
18g.31598585C>TCA179464TTRc.354C>T (p.Asn118=)
c.258C>T (p.Asn86=)
c.468C>T (p.Asn156=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598586G>ACA297513TTRc.355G>A (p.Asp119Asn)
c.259G>A (p.Asp87Asn)
c.469G>A (p.Asp157Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598586G>CCA402158156TTRc.355G>C (p.Asp119His)
c.259G>C (p.Asp87His)
c.469G>C (p.Asp157His)
18g.31598586G=CA2293889331TTRc.355G= (p.Asp119=)
c.259G= (p.Asp87=)
c.469G= (p.Asp157=)
18g.31598586G>TCA402158157TTRc.355G>T (p.Asp119Tyr)
c.259G>T (p.Asp87Tyr)
c.469G>T (p.Asp157Tyr)
18g.31598587A=CA2293889332TTRc.356A= (p.Asp119=)
c.260A= (p.Asp87=)
c.470A= (p.Asp157=)
18g.31598587A>CCA8928498TTRc.356A>C (p.Asp119Ala)
c.260A>C (p.Asp87Ala)
c.470A>C (p.Asp157Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598587A>GCA402158158TTRc.356A>G (p.Asp119Gly)
c.260A>G (p.Asp87Gly)
c.470A>G (p.Asp157Gly)
18g.31598587A>TCA402158159TTRc.356A>T (p.Asp119Val)
c.260A>T (p.Asp87Val)
c.470A>T (p.Asp157Val)
18g.31598588C>ACA402158160TTRc.357C>A (p.Asp119Glu)
c.261C>A (p.Asp87Glu)
c.471C>A (p.Asp157Glu)
18g.31598588C=CA2293889333TTRc.357C= (p.Asp119=)
c.261C= (p.Asp87=)
c.471C= (p.Asp157=)
18g.31598588C>GCA402158161TTRc.357C>G (p.Asp119Glu)
c.261C>G (p.Asp87Glu)
c.471C>G (p.Asp157Glu)
18g.31598588C>TCA503610846TTRc.357C>T (p.Asp119=)
c.261C>T (p.Asp87=)
c.471C>T (p.Asp157=)
 dbSNP
18g.31598589T>ACA402158162TTRc.358T>A (p.Ser120Thr)
c.262T>A (p.Ser88Thr)
c.472T>A (p.Ser158Thr)
18g.31598589T>CCA8928499TTRc.358T>C (p.Ser120Pro)
c.262T>C (p.Ser88Pro)
c.472T>C (p.Ser158Pro)
 ClinVar dbSNP ExAC gnomAD v2
18g.31598589T>GCA402158163TTRc.358T>G (p.Ser120Ala)
c.262T>G (p.Ser88Ala)
c.472T>G (p.Ser158Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.31598589T=CA2293889334TTRc.358T= (p.Ser120=)
c.262T= (p.Ser88=)
c.472T= (p.Ser158=)
18g.31598590C>ACA402158166TTRc.359C>A (p.Ser120Tyr)
c.263C>A (p.Ser88Tyr)
c.473C>A (p.Ser158Tyr)
 dbSNP gnomAD v3 gnomAD v4
18g.31598590C>GCA402158165TTRc.359C>G (p.Ser120Cys)
c.263C>G (p.Ser88Cys)
c.473C>G (p.Ser158Cys)
18g.31598590C>TCA402158164TTRc.359C>T (p.Ser120Phe)
c.263C>T (p.Ser88Phe)
c.473C>T (p.Ser158Phe)
18g.31598591C>ACA503610849TTRc.360C>A (p.Ser120=)
c.264C>A (p.Ser88=)
c.474C>A (p.Ser158=)
18g.31598591C=CA2293889335TTRc.360C= (p.Ser120=)
c.264C= (p.Ser88=)
c.474C= (p.Ser158=)
18g.31598591C>GCA503610850TTRc.360C>G (p.Ser120=)
c.264C>G (p.Ser88=)
c.474C>G (p.Ser158=)
18g.31598591C>TCA132597TTRc.360C>T (p.Ser120=)
c.264C>T (p.Ser88=)
c.474C>T (p.Ser158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598592G>ACA8928500TTRc.361G>A (p.Gly121Ser)
c.265G>A (p.Gly89Ser)
c.475G>A (p.Gly159Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598592G>CCA402158167TTRc.361G>C (p.Gly121Arg)
c.265G>C (p.Gly89Arg)
c.475G>C (p.Gly159Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.31598592G=CA2293889336TTRc.361G= (p.Gly121=)
c.265G= (p.Gly89=)
c.475G= (p.Gly159=)
18g.31598592G>TCA402158168TTRc.361G>T (p.Gly121Cys)
c.265G>T (p.Gly89Cys)
c.475G>T (p.Gly159Cys)
 dbSNP
18g.31598593G>ACA8928502TTRc.362G>A (p.Gly121Asp)
c.266G>A (p.Gly89Asp)
c.476G>A (p.Gly159Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598593G>CCA8928501TTRc.362G>C (p.Gly121Ala)
c.266G>C (p.Gly89Ala)
c.476G>C (p.Gly159Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598593G=CA2293889337TTRc.362G= (p.Gly121=)
c.266G= (p.Gly89=)
c.476G= (p.Gly159=)
18g.31598593G>TCA402158169TTRc.362G>T (p.Gly121Val)
c.266G>T (p.Gly89Val)
c.476G>T (p.Gly159Val)
18g.31598594C>ACA503610854TTRc.363C>A (p.Gly121=)
c.267C>A (p.Gly89=)
c.477C>A (p.Gly159=)
18g.31598594C=CA2293889338TTRc.363C= (p.Gly121=)
c.267C= (p.Gly89=)
c.477C= (p.Gly159=)
18g.31598594C>GCA503610855TTRc.363C>G (p.Gly121=)
c.267C>G (p.Gly89=)
c.477C>G (p.Gly159=)
18g.31598594C>TCA503610856TTRc.363C>T (p.Gly121=)
c.267C>T (p.Gly89=)
c.477C>T (p.Gly159=)
 dbSNP
18g.31598598dupCA2812000724TTRc.367dup (p.Arg123ProfsTer?)
c.271dup (p.Arg91ProfsTer?)
c.481dup (p.Arg161ProfsTer?)
18g.31598595C>ACA402158170TTRc.364C>A (p.Pro122Thr)
c.268C>A (p.Pro90Thr)
c.478C>A (p.Pro160Thr)
 gnomAD v4
18g.31598595C>GCA402158171TTRc.364C>G (p.Pro122Ala)
c.268C>G (p.Pro90Ala)
c.478C>G (p.Pro160Ala)
18g.31598595C>TCA402158172TTRc.364C>T (p.Pro122Ser)
c.268C>T (p.Pro90Ser)
c.478C>T (p.Pro160Ser)
18g.31598596C>ACA297741861TTRc.365C>A (p.Pro122His)
c.269C>A (p.Pro90His)
c.479C>A (p.Pro160His)
18g.31598596C>GCA402158173TTRc.365C>G (p.Pro122Arg)
c.269C>G (p.Pro90Arg)
c.479C>G (p.Pro160Arg)
 ClinVar dbSNP gnomAD v4
18g.31598596C>TCA402158174TTRc.365C>T (p.Pro122Leu)
c.269C>T (p.Pro90Leu)
c.479C>T (p.Pro160Leu)
 ClinVar
18g.31598597C>ACA503610859TTRc.366C>A (p.Pro122=)
c.270C>A (p.Pro90=)
c.480C>A (p.Pro160=)
18g.31598597C>GCA503610860TTRc.366C>G (p.Pro122=)
c.270C>G (p.Pro90=)
c.480C>G (p.Pro160=)
18g.31598597C>TCA503610862TTRc.366C>T (p.Pro122=)
c.270C>T (p.Pro90=)
c.480C>T (p.Pro160=)
18g.31598598C>ACA402158175TTRc.367C>A (p.Arg123Ser)
c.271C>A (p.Arg91Ser)
c.481C>A (p.Arg161Ser)
 COSMIC
18g.31598598C=CA2293889339TTRc.367C= (p.Arg123=)
c.271C= (p.Arg91=)
c.481C= (p.Arg161=)
18g.31598598C>GCA297741863TTRc.367C>G (p.Arg123Gly)
c.271C>G (p.Arg91Gly)
c.481C>G (p.Arg161Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31598598C>TCA8928503TTRc.367C>T (p.Arg123Cys)
c.271C>T (p.Arg91Cys)
c.481C>T (p.Arg161Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598599G>ACA297529TTRc.368G>A (p.Arg123His)
c.272G>A (p.Arg91His)
c.482G>A (p.Arg161His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31598599G>CCA402158177TTRc.368G>C (p.Arg123Pro)
c.272G>C (p.Arg91Pro)
c.482G>C (p.Arg161Pro)
18g.31598599G=CA2293889340TTRc.368G= (p.Arg123=)
c.272G= (p.Arg91=)
c.482G= (p.Arg161=)
18g.31598599G>TCA402158176TTRc.368G>T (p.Arg123Leu)
c.272G>T (p.Arg91Leu)
c.482G>T (p.Arg161Leu)
18g.31598600C>ACA503610865TTRc.369C>A (p.Arg123=)
c.273C>A (p.Arg91=)
c.483C>A (p.Arg161=)
18g.31598600C=CA2293889341TTRc.369C= (p.Arg123=)
c.273C= (p.Arg91=)
c.483C= (p.Arg161=)
18g.31598600C>GCA503610866TTRc.369C>G (p.Arg123=)
c.273C>G (p.Arg91=)
c.483C>G (p.Arg161=)
 ClinVar dbSNP
18g.31598600C>TCA503610868TTRc.369C>T (p.Arg123=)
c.273C>T (p.Arg91=)
c.483C>T (p.Arg161=)
18g.31598601C>ACA402158178TTRc.370C>A (p.Arg124Ser)
c.274C>A (p.Arg92Ser)
c.484C>A (p.Arg162Ser)
18g.31598601C=CA2293889342TTRc.370C= (p.Arg124=)
c.274C= (p.Arg92=)
c.484C= (p.Arg162=)
18g.31598601C>GCA402158179TTRc.370C>G (p.Arg124Gly)
c.274C>G (p.Arg92Gly)
c.484C>G (p.Arg162Gly)
18g.31598601C>TCA8928504TTRc.370C>T (p.Arg124Cys)
c.274C>T (p.Arg92Cys)
c.484C>T (p.Arg162Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31598602G>ACA179467TTRc.371G>A (p.Arg124His)
c.275G>A (p.Arg92His)
c.485G>A (p.Arg162His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598602G>CCA402158180TTRc.371G>C (p.Arg124Pro)
c.275G>C (p.Arg92Pro)
c.485G>C (p.Arg162Pro)
18g.31598602G=CA2293889343TTRc.371G= (p.Arg124=)
c.275G= (p.Arg92=)
c.485G= (p.Arg162=)
18g.31598602G>TCA402158181TTRc.371G>T (p.Arg124Leu)
c.275G>T (p.Arg92Leu)
c.485G>T (p.Arg162Leu)
 gnomAD v4
18g.31598603C>ACA503610876TTRc.372C>A (p.Arg124=)
c.276C>A (p.Arg92=)
c.486C>A (p.Arg162=)
18g.31598603C=CA2293889344TTRc.372C= (p.Arg124=)
c.276C= (p.Arg92=)
c.486C= (p.Arg162=)
18g.31598603C>GCA8928505TTRc.372C>G (p.Arg124=)
c.276C>G (p.Arg92=)
c.486C>G (p.Arg162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31598603C>TCA503610878TTRc.372C>T (p.Arg124=)
c.276C>T (p.Arg92=)
c.486C>T (p.Arg162=)
 gnomAD v4
18g.31598604T>ACA402158184TTRc.373T>A (p.Tyr125Asn)
c.277T>A (p.Tyr93Asn)
c.487T>A (p.Tyr163Asn)
18g.31598604T>CCA402158182TTRc.373T>C (p.Tyr125His)
c.277T>C (p.Tyr93His)
c.487T>C (p.Tyr163His)
 ClinVar dbSNP COSMIC
18g.31598604T>GCA402158183TTRc.373T>G (p.Tyr125Asp)
c.277T>G (p.Tyr93Asp)
c.487T>G (p.Tyr163Asp)
18g.31598604T=CA2293889345TTRc.373T= (p.Tyr125=)
c.277T= (p.Tyr93=)
c.487T= (p.Tyr163=)
18g.31598605A>CCA402158185TTRc.374A>C (p.Tyr125Ser)
c.278A>C (p.Tyr93Ser)
c.488A>C (p.Tyr163Ser)
18g.31598605A>GCA402158186TTRc.374A>G (p.Tyr125Cys)
c.278A>G (p.Tyr93Cys)
c.488A>G (p.Tyr163Cys)
18g.31598605A>TCA402158187TTRc.374A>T (p.Tyr125Phe)
c.278A>T (p.Tyr93Phe)
c.488A>T (p.Tyr163Phe)
18g.31598606C>ACA8928506TTRc.375C>A (p.Tyr125Ter)
c.279C>A (p.Tyr93Ter)
c.489C>A (p.Tyr163Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31598606C=CA2293889346TTRc.375C= (p.Tyr125=)
c.279C= (p.Tyr93=)
c.489C= (p.Tyr163=)
18g.31598606C>GCA402158188TTRc.375C>G (p.Tyr125Ter)
c.279C>G (p.Tyr93Ter)
c.489C>G (p.Tyr163Ter)
18g.31598606C>TCA16616068TTRc.375C>T (p.Tyr125=)
c.279C>T (p.Tyr93=)
c.489C>T (p.Tyr163=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31598607A>CCA402158189TTRc.376A>C (p.Thr126Pro)
c.280A>C (p.Thr94Pro)
c.490A>C (p.Thr164Pro)
c.375+1A>C (n.375+1A>C)
18g.31598607A>GCA402158191TTRc.376A>G (p.Thr126Ala)
c.280A>G (p.Thr94Ala)
c.490A>G (p.Thr164Ala)
c.375+1A>G (n.375+1A>G)
18g.31598607A>TCA402158190TTRc.376A>T (p.Thr126Ser)
c.280A>T (p.Thr94Ser)
c.490A>T (p.Thr164Ser)
c.375+1A>T (n.375+1A>T)
18g.31598608C>ACA402158192TTRc.377C>A (p.Thr126Asn)
c.281C>A (p.Thr94Asn)
c.491C>A (p.Thr164Asn)
c.375+2C>A (n.375+2C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.31598608C=CA2293889347TTRc.377C= (p.Thr126=)
c.281C= (p.Thr94=)
c.491C= (p.Thr164=)
c.375+2C= (n.375+2C=)
18g.31598608C>GCA402158193TTRc.377C>G (p.Thr126Ser)
c.281C>G (p.Thr94Ser)
c.491C>G (p.Thr164Ser)
c.375+2C>G (n.375+2C>G)
18g.31598608C>TCA402158194TTRc.377C>T (p.Thr126Ile)
c.281C>T (p.Thr94Ile)
c.491C>T (p.Thr164Ile)
c.375+2C>T (n.375+2C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.31598609C>ACA503610887TTRc.378C>A (p.Thr126=)
c.282C>A (p.Thr94=)
c.492C>A (p.Thr164=)
c.375+3C>A (n.375+3C>A)
 gnomAD v4
18g.31598609C>GCA503610888TTRc.378C>G (p.Thr126=)
c.282C>G (p.Thr94=)
c.492C>G (p.Thr164=)
c.375+3C>G (n.375+3C>G)
18g.31598609C>TCA503610889TTRc.378C>T (p.Thr126=)
c.282C>T (p.Thr94=)
c.492C>T (p.Thr164=)
c.375+3C>T (n.375+3C>T)
18g.31598610A=CA2293889348TTRc.379A= (p.Ile127=)
c.283A= (p.Ile95=)
c.493A= (p.Ile165=)
c.375+4A= (n.375+4A=)
18g.31598610A>CCA402158195TTRc.379A>C (p.Ile127Leu)
c.283A>C (p.Ile95Leu)
c.493A>C (p.Ile165Leu)
c.375+4A>C (n.375+4A>C)
18g.31598610A>GCA256843TTRc.379A>G (p.Ile127Val)
c.283A>G (p.Ile95Val)
c.493A>G (p.Ile165Val)
c.375+4A>G (n.375+4A>G)
 ClinVar dbSNP
18g.31598610A>TCA402158196TTRc.379A>T (p.Ile127Phe)
c.283A>T (p.Ile95Phe)
c.493A>T (p.Ile165Phe)
c.375+4A>T (n.375+4A>T)

Number of alleles fetched