Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.132873138G>ACA4882951TGc.555G>A (p.Ala185=)
c.*406G>A (n.*406G>A)
c.294G>A (p.Ala98=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132873138G>CCA463013913TGc.555G>C (p.Ala185=)
c.*406G>C (n.*406G>C)
c.294G>C (p.Ala98=)
 COSMIC
8g.132873138G=CA1820984241TGc.555G= (p.Ala185=)
c.*406G= (n.*406G=)
c.294G= (p.Ala98=)
8g.132873138G>TCA463013914TGc.555G>T (p.Ala185=)
c.*406G>T (n.*406G>T)
c.294G>T (p.Ala98=)
8g.132873139G>ACA372247285TGc.556G>A (p.Glu186Lys)
c.*407G>A (n.*407G>A)
c.295G>A (p.Glu99Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.132873139G>CCA372247283TGc.556G>C (p.Glu186Gln)
c.*407G>C (n.*407G>C)
c.295G>C (p.Glu99Gln)
8g.132873139G=CA1820984242TGc.556G= (p.Glu186=)
c.*407G= (n.*407G=)
c.295G= (p.Glu99=)
8g.132873139G>TCA372247282TGc.556G>T (p.Glu186Ter)
c.*407G>T (n.*407G>T)
c.295G>T (p.Glu99Ter)
8g.132873140A=CA1820984243TGc.557A= (p.Glu186=)
c.*408A= (n.*408A=)
c.296A= (p.Glu99=)
8g.132873140A>CCA372247287TGc.557A>C (p.Glu186Ala)
c.*408A>C (n.*408A>C)
c.296A>C (p.Glu99Ala)
8g.132873140A>GCA4882952TGc.557A>G (p.Glu186Gly)
c.*408A>G (n.*408A>G)
c.296A>G (p.Glu99Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132873140A>TCA186328577TGc.557A>T (p.Glu186Val)
c.*408A>T (n.*408A>T)
c.296A>T (p.Glu99Val)
 dbSNP gnomAD v4
8g.132873141G>ACA463013915TGc.558G>A (p.Glu186=)
c.*409G>A (n.*409G>A)
c.297G>A (p.Glu99=)
 dbSNP
8g.132873141G>CCA372247293TGc.558G>C (p.Glu186Asp)
c.*409G>C (n.*409G>C)
c.297G>C (p.Glu99Asp)
8g.132873141G=CA1820984244TGc.558G= (p.Glu186=)
c.*409G= (n.*409G=)
c.297G= (p.Glu99=)
8g.132873141G>TCA372247295TGc.558G>T (p.Glu186Asp)
c.*409G>T (n.*409G>T)
c.297G>T (p.Glu99Asp)
8g.132873142G>ACA372247313TGc.559G>A (p.Gly187Arg)
c.*410G>A (n.*410G>A)
c.298G>A (p.Gly100Arg)
8g.132873142G>CCA372247308TGc.559G>C (p.Gly187Arg)
c.*410G>C (n.*410G>C)
c.298G>C (p.Gly100Arg)
8g.132873142G>TCA372247303TGc.559G>T (p.Gly187Ter)
c.*410G>T (n.*410G>T)
c.298G>T (p.Gly100Ter)
8g.132873142_132873144delinsGGACA1820984245TGc.559_561delinsGGA (p.Gly187=)
c.*410_*412delinsGGA (n.*410_*412delinsGGA)
c.298_300delinsGGA (p.Gly100=)
8g.132873143G>ACA372247317TGc.560G>A (p.Gly187Glu)
c.*411G>A (n.*411G>A)
c.299G>A (p.Gly100Glu)
 dbSNP gnomAD v2 gnomAD v4
8g.132873143G>CCA372247323TGc.560G>C (p.Gly187Ala)
c.*411G>C (n.*411G>C)
c.299G>C (p.Gly100Ala)
8g.132873143G=CA1820984246TGc.560G= (p.Gly187=)
c.*411G= (n.*411G=)
c.299G= (p.Gly100=)
8g.132873143G>TCA372247325TGc.560G>T (p.Gly187Val)
c.*411G>T (n.*411G>T)
c.299G>T (p.Gly100Val)
8g.132873146_132873147delCA584913901TGc.563_564del (p.Glu188ValfsTer18)
c.*414_*415del (n.*414_*415del)
c.302_303del (p.Glu101ValfsTer18)
 dbSNP gnomAD v2 gnomAD v4
8g.132873144A>CCA463013916TGc.561A>C (p.Gly187=)
c.*412A>C (n.*412A>C)
c.300A>C (p.Gly100=)
8g.132873144A>GCA463013917TGc.561A>G (p.Gly187=)
c.*412A>G (n.*412A>G)
c.300A>G (p.Gly100=)
8g.132873144A>TCA463013918TGc.561A>T (p.Gly187=)
c.*412A>T (n.*412A>T)
c.300A>T (p.Gly100=)
8g.132873145G>ACA4882953TGc.562G>A (p.Glu188Lys)
c.*413G>A (n.*413G>A)
c.301G>A (p.Glu101Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132873145G>CCA372247330TGc.562G>C (p.Glu188Gln)
c.*413G>C (n.*413G>C)
c.301G>C (p.Glu101Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132873145G=CA1820984247TGc.562G= (p.Glu188=)
c.*413G= (n.*413G=)
c.301G= (p.Glu101=)
8g.132873145G>TCA372247332TGc.562G>T (p.Glu188Ter)
c.*413G>T (n.*413G>T)
c.301G>T (p.Glu101Ter)
8g.132873146A>CCA372247338TGc.563A>C (p.Glu188Ala)
c.*414A>C (n.*414A>C)
c.302A>C (p.Glu101Ala)
8g.132873146A>GCA372247335TGc.563A>G (p.Glu188Gly)
c.*414A>G (n.*414A>G)
c.302A>G (p.Glu101Gly)
8g.132873146A>TCA372247337TGc.563A>T (p.Glu188Val)
c.*414A>T (n.*414A>T)
c.302A>T (p.Glu101Val)
8g.132873147delCA2688647983TGc.564del (p.Glu188AspfsTer15)
c.*415del (n.*415del)
c.303del (p.Glu101AspfsTer15)
 gnomAD v4
8g.132873147G>ACA463013919TGc.564G>A (p.Glu188=)
c.*415G>A (n.*415G>A)
c.303G>A (p.Glu101=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132873147G>CCA372247339TGc.564G>C (p.Glu188Asp)
c.*415G>C (n.*415G>C)
c.303G>C (p.Glu101Asp)
8g.132873147G=CA1820984248TGc.564G= (p.Glu188=)
c.*415G= (n.*415G=)
c.303G= (p.Glu101=)
8g.132873147G>TCA372247343TGc.564G>T (p.Glu188Asp)
c.*415G>T (n.*415G>T)
c.303G>T (p.Glu101Asp)
8g.132873148T>ACA4882954TGc.565T>A (p.Phe189Ile)
c.*416T>A (n.*416T>A)
c.304T>A (p.Phe102Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132873148T>CCA372247347TGc.565T>C (p.Phe189Leu)
c.*416T>C (n.*416T>C)
c.304T>C (p.Phe102Leu)
 dbSNP gnomAD v2
8g.132873148T>GCA372247348TGc.565T>G (p.Phe189Val)
c.*416T>G (n.*416T>G)
c.304T>G (p.Phe102Val)
 dbSNP
8g.132873148T=CA1820984249TGc.565T= (p.Phe189=)
c.*416T= (n.*416T=)
c.304T= (p.Phe102=)
8g.132873149T>ACA372247349TGc.566T>A (p.Phe189Tyr)
c.*417T>A (n.*417T>A)
c.305T>A (p.Phe102Tyr)
8g.132873149T>CCA372247350TGc.566T>C (p.Phe189Ser)
c.*417T>C (n.*417T>C)
c.305T>C (p.Phe102Ser)
8g.132873149T>GCA372247351TGc.566T>G (p.Phe189Cys)
c.*417T>G (n.*417T>G)
c.305T>G (p.Phe102Cys)
8g.132873150T>ACA372247352TGc.567T>A (p.Phe189Leu)
c.*418T>A (n.*418T>A)
c.306T>A (p.Phe102Leu)
8g.132873150T>CCA463013920TGc.567T>C (p.Phe189=)
c.*418T>C (n.*418T>C)
c.306T>C (p.Phe102=)
8g.132873150T>GCA372247353TGc.567T>G (p.Phe189Leu)
c.*418T>G (n.*418T>G)
c.306T>G (p.Phe102Leu)
8g.132873151A>CCA372247354TGc.568A>C (p.Met190Leu)
c.*419A>C (n.*419A>C)
c.307A>C (p.Met103Leu)
 gnomAD v4
8g.132873151A>GCA372247357TGc.568A>G (p.Met190Val)
c.*419A>G (n.*419A>G)
c.307A>G (p.Met103Val)
8g.132873151A>TCA372247360TGc.568A>T (p.Met190Leu)
c.*419A>T (n.*419A>T)
c.307A>T (p.Met103Leu)
8g.132873152T>ACA372247362TGc.569T>A (p.Met190Lys)
c.*420T>A (n.*420T>A)
c.308T>A (p.Met103Lys)
8g.132873152T>CCA4882955TGc.569T>C (p.Met190Thr)
c.*420T>C (n.*420T>C)
c.308T>C (p.Met103Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873152T>GCA372247363TGc.569T>G (p.Met190Arg)
c.*420T>G (n.*420T>G)
c.308T>G (p.Met103Arg)
8g.132873152T=CA1820984250TGc.569T= (p.Met190=)
c.*420T= (n.*420T=)
c.308T= (p.Met103=)
8g.132873153G>ACA372247364TGc.570G>A (p.Met190Ile)
c.*421G>A (n.*421G>A)
c.309G>A (p.Met103Ile)
8g.132873153G>CCA372247365TGc.570G>C (p.Met190Ile)
c.*421G>C (n.*421G>C)
c.309G>C (p.Met103Ile)
8g.132873153G>TCA372247366TGc.570G>T (p.Met190Ile)
c.*421G>T (n.*421G>T)
c.309G>T (p.Met103Ile)
 gnomAD v4
8g.132873154C>ACA372247367TGc.571C>A (p.Pro191Thr)
c.*422C>A (n.*422C>A)
c.310C>A (p.Pro104Thr)
 gnomAD v4
8g.132873154C=CA1820984251TGc.571C= (p.Pro191=)
c.*422C= (n.*422C=)
c.310C= (p.Pro104=)
8g.132873154C>GCA372247368TGc.571C>G (p.Pro191Ala)
c.*422C>G (n.*422C>G)
c.310C>G (p.Pro104Ala)
8g.132873154C>TCA4882956TGc.571C>T (p.Pro191Ser)
c.*422C>T (n.*422C>T)
c.310C>T (p.Pro104Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132873155C>ACA372247369TGc.572C>A (p.Pro191His)
c.*423C>A (n.*423C>A)
c.311C>A (p.Pro104His)
8g.132873155C>GCA372247370TGc.572C>G (p.Pro191Arg)
c.*423C>G (n.*423C>G)
c.311C>G (p.Pro104Arg)
8g.132873155C>TCA372247371TGc.572C>T (p.Pro191Leu)
c.*423C>T (n.*423C>T)
c.311C>T (p.Pro104Leu)
8g.132873156T>ACA463013921TGc.573T>A (p.Pro191=)
c.*424T>A (n.*424T>A)
c.312T>A (p.Pro104=)
8g.132873156T>CCA463013922TGc.573T>C (p.Pro191=)
c.*424T>C (n.*424T>C)
c.312T>C (p.Pro104=)
8g.132873156T>GCA463013923TGc.573T>G (p.Pro191=)
c.*424T>G (n.*424T>G)
c.312T>G (p.Pro104=)
8g.132873157G>ACA372247372TGc.574G>A (p.Val192Ile)
c.*425G>A (n.*425G>A)
c.313G>A (p.Val105Ile)
 gnomAD v4
8g.132873157G>CCA372247373TGc.574G>C (p.Val192Leu)
c.*425G>C (n.*425G>C)
c.313G>C (p.Val105Leu)
8g.132873157G>TCA372247375TGc.574G>T (p.Val192Phe)
c.*425G>T (n.*425G>T)
c.313G>T (p.Val105Phe)
8g.132873158T>ACA372247390TGc.575T>A (p.Val192Asp)
c.*426T>A (n.*426T>A)
c.314T>A (p.Val105Asp)
 dbSNP
8g.132873158T>CCA372247388TGc.575T>C (p.Val192Ala)
c.*426T>C (n.*426T>C)
c.314T>C (p.Val105Ala)
8g.132873158T>GCA372247389TGc.575T>G (p.Val192Gly)
c.*426T>G (n.*426T>G)
c.314T>G (p.Val105Gly)
8g.132873158T=CA1820984252TGc.575T= (p.Val192=)
c.*426T= (n.*426T=)
c.314T= (p.Val105=)
8g.132873159C>ACA463013924TGc.576C>A (p.Val192=)
c.*427C>A (n.*427C>A)
c.315C>A (p.Val105=)
8g.132873159C=CA1820984253TGc.576C= (p.Val192=)
c.*427C= (n.*427C=)
c.315C= (p.Val105=)
8g.132873159C>GCA463013925TGc.576C>G (p.Val192=)
c.*427C>G (n.*427C>G)
c.315C>G (p.Val105=)
 dbSNP gnomAD v2 gnomAD v4
8g.132873159C>TCA463013926TGc.576C>T (p.Val192=)
c.*427C>T (n.*427C>T)
c.315C>T (p.Val105=)
 gnomAD v4
8g.132873160C>ACA372247397TGc.577C>A (p.Gln193Lys)
c.*428C>A (n.*428C>A)
c.316C>A (p.Gln106Lys)
8g.132873160C>GCA372247398TGc.577C>G (p.Gln193Glu)
c.*428C>G (n.*428C>G)
c.316C>G (p.Gln106Glu)
8g.132873160C>TCA372247401TGc.577C>T (p.Gln193Ter)
c.*428C>T (n.*428C>T)
c.316C>T (p.Gln106Ter)
 gnomAD v4
8g.132873161A>CCA372247402TGc.578A>C (p.Gln193Pro)
c.*429A>C (n.*429A>C)
c.317A>C (p.Gln106Pro)
8g.132873161A>GCA372247404TGc.578A>G (p.Gln193Arg)
c.*429A>G (n.*429A>G)
c.317A>G (p.Gln106Arg)
 gnomAD v4
8g.132873161A>TCA372247405TGc.578A>T (p.Gln193Leu)
c.*429A>T (n.*429A>T)
c.317A>T (p.Gln106Leu)
8g.132873162G>ACA463013927TGc.579G>A (p.Gln193=)
c.*430G>A (n.*430G>A)
c.318G>A (p.Gln106=)
 gnomAD v4
8g.132873162G>CCA372247414TGc.579G>C (p.Gln193His)
c.*430G>C (n.*430G>C)
c.318G>C (p.Gln106His)
8g.132873162G>TCA372247417TGc.579G>T (p.Gln193His)
c.*430G>T (n.*430G>T)
c.318G>T (p.Gln106His)
8g.132873163T>ACA372247420TGc.580T>A (p.Cys194Ser)
c.*431T>A (n.*431T>A)
c.319T>A (p.Cys107Ser)
8g.132873163T>CCA372247422TGc.580T>C (p.Cys194Arg)
c.*431T>C (n.*431T>C)
c.319T>C (p.Cys107Arg)
8g.132873163T>GCA372247423TGc.580T>G (p.Cys194Gly)
c.*431T>G (n.*431T>G)
c.319T>G (p.Cys107Gly)
8g.132873164G>ACA372247429TGc.581G>A (p.Cys194Tyr)
c.*432G>A (n.*432G>A)
c.320G>A (p.Cys107Tyr)
 COSMIC
8g.132873164G>CCA372247428TGc.581G>C (p.Cys194Ser)
c.*432G>C (n.*432G>C)
c.320G>C (p.Cys107Ser)
8g.132873164G>TCA372247426TGc.581G>T (p.Cys194Phe)
c.*432G>T (n.*432G>T)
c.320G>T (p.Cys107Phe)
8g.132873165C>ACA372247442TGc.582C>A (p.Cys194Ter)
c.*433C>A (n.*433C>A)
c.321C>A (p.Cys107Ter)
 dbSNP gnomAD v4
8g.132873165C=CA1820984254TGc.582C= (p.Cys194=)
c.*433C= (n.*433C=)
c.321C= (p.Cys107=)
8g.132873165C>GCA372247444TGc.582C>G (p.Cys194Trp)
c.*433C>G (n.*433C>G)
c.321C>G (p.Cys107Trp)
8g.132873165C>TCA4882957TGc.582C>T (p.Cys194=)
c.*433C>T (n.*433C>T)
c.321C>T (p.Cys107=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873166A=CA1820984255TGc.583A= (p.Lys195=)
c.*434A= (n.*434A=)
c.322A= (p.Lys108=)
8g.132873166A>CCA372247457TGc.583A>C (p.Lys195Gln)
c.*434A>C (n.*434A>C)
c.322A>C (p.Lys108Gln)
 dbSNP gnomAD v2 gnomAD v4
8g.132873166A>GCA186328611TGc.583A>G (p.Lys195Glu)
c.*434A>G (n.*434A>G)
c.322A>G (p.Lys108Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132873166A>TCA372247448TGc.583A>T (p.Lys195Ter)
c.*434A>T (n.*434A>T)
c.322A>T (p.Lys108Ter)
8g.132873168dupCA186328603TGc.585dup (p.Phe196IlefsTer11)
c.*436dup (n.*436dup)
c.324dup (p.Phe109IlefsTer11)
 dbSNP
8g.132873167A>CCA372247466TGc.584A>C (p.Lys195Thr)
c.*435A>C (n.*435A>C)
c.323A>C (p.Lys108Thr)
8g.132873167A>GCA372247461TGc.584A>G (p.Lys195Arg)
c.*435A>G (n.*435A>G)
c.323A>G (p.Lys108Arg)
8g.132873167A>TCA372247463TGc.584A>T (p.Lys195Ile)
c.*435A>T (n.*435A>T)
c.323A>T (p.Lys108Ile)
8g.132873168A>CCA372247471TGc.585A>C (p.Lys195Asn)
c.*436A>C (n.*436A>C)
c.324A>C (p.Lys108Asn)
8g.132873168A>GCA463013928TGc.585A>G (p.Lys195=)
c.*436A>G (n.*436A>G)
c.324A>G (p.Lys108=)
8g.132873168A>TCA372247473TGc.585A>T (p.Lys195Asn)
c.*436A>T (n.*436A>T)
c.324A>T (p.Lys108Asn)
8g.132873169T>ACA372247478TGc.586T>A (p.Phe196Ile)
c.*437T>A (n.*437T>A)
c.325T>A (p.Phe109Ile)
8g.132873169T>CCA372247480TGc.586T>C (p.Phe196Leu)
c.*437T>C (n.*437T>C)
c.325T>C (p.Phe109Leu)
8g.132873169T>GCA372247482TGc.586T>G (p.Phe196Val)
c.*437T>G (n.*437T>G)
c.325T>G (p.Phe109Val)
8g.132873170T>ACA372247486TGc.587T>A (p.Phe196Tyr)
c.*438T>A (n.*438T>A)
c.326T>A (p.Phe109Tyr)
8g.132873170T>CCA372247487TGc.587T>C (p.Phe196Ser)
c.*438T>C (n.*438T>C)
c.326T>C (p.Phe109Ser)
 gnomAD v4
8g.132873170T>GCA372247489TGc.587T>G (p.Phe196Cys)
c.*438T>G (n.*438T>G)
c.326T>G (p.Phe109Cys)
8g.132873171T>ACA372247492TGc.588T>A (p.Phe196Leu)
c.*439T>A (n.*439T>A)
c.327T>A (p.Phe109Leu)
 gnomAD v4
8g.132873171T>CCA4882958TGc.588T>C (p.Phe196=)
c.*439T>C (n.*439T>C)
c.327T>C (p.Phe109=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132873171T>GCA372247494TGc.588T>G (p.Phe196Leu)
c.*439T>G (n.*439T>G)
c.327T>G (p.Phe109Leu)
8g.132873171T=CA1820984256TGc.588T= (p.Phe196=)
c.*439T= (n.*439T=)
c.327T= (p.Phe109=)
8g.132873172G>ACA372247495TGc.589G>A (p.Val197Ile)
c.*440G>A (n.*440G>A)
c.328G>A (p.Val110Ile)
8g.132873172G>CCA372247499TGc.589G>C (p.Val197Leu)
c.*440G>C (n.*440G>C)
c.328G>C (p.Val110Leu)
8g.132873172G>TCA372247497TGc.589G>T (p.Val197Phe)
c.*440G>T (n.*440G>T)
c.328G>T (p.Val110Phe)
 gnomAD v4
8g.132873173T>ACA372247500TGc.590T>A (p.Val197Asp)
c.*441T>A (n.*441T>A)
c.329T>A (p.Val110Asp)
8g.132873173T>CCA372247501TGc.590T>C (p.Val197Ala)
c.*441T>C (n.*441T>C)
c.329T>C (p.Val110Ala)
8g.132873173T>GCA372247502TGc.590T>G (p.Val197Gly)
c.*441T>G (n.*441T>G)
c.329T>G (p.Val110Gly)
8g.132873174_132873194dupCA2688648019TGc.591_611dup (p.Ile204_Phe205insAsnThrThrAspMetMetIle)
c.*442_*462dup (n.*442_*462dup)
c.330_350dup (p.Ile117_Phe118insAsnThrThrAspMetMetIle)
 gnomAD v4
8g.132873174C>ACA463013930TGc.591C>A (p.Val197=)
c.*442C>A (n.*442C>A)
c.330C>A (p.Val110=)
8g.132873174C>GCA463013931TGc.591C>G (p.Val197=)
c.*442C>G (n.*442C>G)
c.330C>G (p.Val110=)
8g.132873174C>TCA463013932TGc.591C>T (p.Val197=)
c.*442C>T (n.*442C>T)
c.330C>T (p.Val110=)
 ClinVar gnomAD v4
8g.132873175A>CCA372247503TGc.592A>C (p.Asn198His)
c.*443A>C (n.*443A>C)
c.331A>C (p.Asn111His)
8g.132873175A>GCA372247505TGc.592A>G (p.Asn198Asp)
c.*443A>G (n.*443A>G)
c.331A>G (p.Asn111Asp)
8g.132873175A>TCA372247507TGc.592A>T (p.Asn198Tyr)
c.*443A>T (n.*443A>T)
c.331A>T (p.Asn111Tyr)
8g.132873176A=CA1820984257TGc.593A= (p.Asn198=)
c.*444A= (n.*444A=)
c.332A= (p.Asn111=)
8g.132873176A>CCA372247509TGc.593A>C (p.Asn198Thr)
c.*444A>C (n.*444A>C)
c.332A>C (p.Asn111Thr)
8g.132873176A>GCA4882959TGc.593A>G (p.Asn198Ser)
c.*444A>G (n.*444A>G)
c.332A>G (p.Asn111Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.132873176A>TCA372247511TGc.593A>T (p.Asn198Ile)
c.*444A>T (n.*444A>T)
c.332A>T (p.Asn111Ile)
8g.132873177C>ACA372247513TGc.594C>A (p.Asn198Lys)
c.*445C>A (n.*445C>A)
c.333C>A (p.Asn111Lys)
8g.132873177C>GCA372247514TGc.594C>G (p.Asn198Lys)
c.*445C>G (n.*445C>G)
c.333C>G (p.Asn111Lys)
8g.132873177C>TCA463013933TGc.594C>T (p.Asn198=)
c.*445C>T (n.*445C>T)
c.333C>T (p.Asn111=)
 gnomAD v4
8g.132873178A>CCA372247518TGc.595A>C (p.Thr199Pro)
c.*446A>C (n.*446A>C)
c.334A>C (p.Thr112Pro)
8g.132873178A>GCA372247516TGc.595A>G (p.Thr199Ala)
c.*446A>G (n.*446A>G)
c.334A>G (p.Thr112Ala)
8g.132873178A>TCA372247515TGc.595A>T (p.Thr199Ser)
c.*446A>T (n.*446A>T)
c.334A>T (p.Thr112Ser)
8g.132873179C>ACA372247526TGc.596C>A (p.Thr199Asn)
c.*447C>A (n.*447C>A)
c.335C>A (p.Thr112Asn)
8g.132873179C=CA1820984258TGc.596C= (p.Thr199=)
c.*447C= (n.*447C=)
c.335C= (p.Thr112=)
8g.132873179C>GCA372247521TGc.596C>G (p.Thr199Ser)
c.*447C>G (n.*447C>G)
c.335C>G (p.Thr112Ser)
8g.132873179C>TCA4882960TGc.596C>T (p.Thr199Ile)
c.*447C>T (n.*447C>T)
c.335C>T (p.Thr112Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.132873180C>ACA463013934TGc.597C>A (p.Thr199=)
c.*448C>A (n.*448C>A)
c.336C>A (p.Thr112=)
8g.132873180C>GCA463013935TGc.597C>G (p.Thr199=)
c.*448C>G (n.*448C>G)
c.336C>G (p.Thr112=)
8g.132873180C>TCA463013936TGc.597C>T (p.Thr199=)
c.*448C>T (n.*448C>T)
c.336C>T (p.Thr112=)
 gnomAD v4 COSMIC
8g.132873181A>CCA372247529TGc.598A>C (p.Thr200Pro)
c.*449A>C (n.*449A>C)
c.337A>C (p.Thr113Pro)
8g.132873181A>GCA372247531TGc.598A>G (p.Thr200Ala)
c.*449A>G (n.*449A>G)
c.337A>G (p.Thr113Ala)
8g.132873181A>TCA372247536TGc.598A>T (p.Thr200Ser)
c.*449A>T (n.*449A>T)
c.337A>T (p.Thr113Ser)
8g.132873182C>ACA372247539TGc.599C>A (p.Thr200Lys)
c.*450C>A (n.*450C>A)
c.338C>A (p.Thr113Lys)
8g.132873182C>GCA372247541TGc.599C>G (p.Thr200Arg)
c.*450C>G (n.*450C>G)
c.338C>G (p.Thr113Arg)
8g.132873182C>TCA372247544TGc.599C>T (p.Thr200Ile)
c.*450C>T (n.*450C>T)
c.338C>T (p.Thr113Ile)
8g.132873183A>CCA463013937TGc.600A>C (p.Thr200=)
c.*451A>C (n.*451A>C)
c.339A>C (p.Thr113=)
8g.132873183A>GCA463013938TGc.600A>G (p.Thr200=)
c.*451A>G (n.*451A>G)
c.339A>G (p.Thr113=)
8g.132873183A>TCA463013939TGc.600A>T (p.Thr200=)
c.*451A>T (n.*451A>T)
c.339A>T (p.Thr113=)
8g.132873184G>ACA372247546TGc.601G>A (p.Asp201Asn)
c.*452G>A (n.*452G>A)
c.340G>A (p.Asp114Asn)
8g.132873184G>CCA186328642TGc.601G>C (p.Asp201His)
c.*452G>C (n.*452G>C)
c.340G>C (p.Asp114His)
 dbSNP
8g.132873184G=CA1820984259TGc.601G= (p.Asp201=)
c.*452G= (n.*452G=)
c.340G= (p.Asp114=)
8g.132873184G>TCA372247549TGc.601G>T (p.Asp201Tyr)
c.*452G>T (n.*452G>T)
c.340G>T (p.Asp114Tyr)
8g.132873185A>CCA372247553TGc.602A>C (p.Asp201Ala)
c.*453A>C (n.*453A>C)
c.341A>C (p.Asp114Ala)
8g.132873185A>GCA372247555TGc.602A>G (p.Asp201Gly)
c.*453A>G (n.*453A>G)
c.341A>G (p.Asp114Gly)
8g.132873185A>TCA372247557TGc.602A>T (p.Asp201Val)
c.*453A>T (n.*453A>T)
c.341A>T (p.Asp114Val)
8g.132873186C>ACA372247560TGc.603C>A (p.Asp201Glu)
c.*454C>A (n.*454C>A)
c.342C>A (p.Asp114Glu)
8g.132873186C>GCA372247562TGc.603C>G (p.Asp201Glu)
c.*454C>G (n.*454C>G)
c.342C>G (p.Asp114Glu)
8g.132873186C>TCA463013940TGc.603C>T (p.Asp201=)
c.*454C>T (n.*454C>T)
c.342C>T (p.Asp114=)
8g.132873186_132873189delinsCATGCA1820984260TGc.603_606delinsCATG (p.Asp201=)
c.*454_*457delinsCATG (n.*454_*457delinsCATG)
c.342_345delinsCATG (p.Asp114=)
8g.132873187A>CCA372247566TGc.604A>C (p.Met202Leu)
c.*455A>C (n.*455A>C)
c.343A>C (p.Met115Leu)
8g.132873187A>GCA372247568TGc.604A>G (p.Met202Val)
c.*455A>G (n.*455A>G)
c.343A>G (p.Met115Val)
8g.132873187A>TCA372247570TGc.604A>T (p.Met202Leu)
c.*455A>T (n.*455A>T)
c.343A>T (p.Met115Leu)
8g.132873192_132873194delCA584914002TGc.609_611del (p.Met203del)
c.*460_*462del (n.*460_*462del)
c.348_350del (p.Met116del)
 dbSNP gnomAD v2 gnomAD v4
8g.132873188T>ACA372247572TGc.605T>A (p.Met202Lys)
c.*456T>A (n.*456T>A)
c.344T>A (p.Met115Lys)
8g.132873188T>CCA372247574TGc.605T>C (p.Met202Thr)
c.*456T>C (n.*456T>C)
c.344T>C (p.Met115Thr)
 gnomAD v4
8g.132873188T>GCA372247577TGc.605T>G (p.Met202Arg)
c.*456T>G (n.*456T>G)
c.344T>G (p.Met115Arg)
8g.132873189G>ACA372247580TGc.606G>A (p.Met202Ile)
c.*457G>A (n.*457G>A)
c.345G>A (p.Met115Ile)
 gnomAD v4
8g.132873189G>CCA372247581TGc.606G>C (p.Met202Ile)
c.*457G>C (n.*457G>C)
c.345G>C (p.Met115Ile)
8g.132873189G>TCA372247583TGc.606G>T (p.Met202Ile)
c.*457G>T (n.*457G>T)
c.345G>T (p.Met115Ile)
8g.132873190A>CCA372247585TGc.607A>C (p.Met203Leu)
c.*458A>C (n.*458A>C)
c.346A>C (p.Met116Leu)
8g.132873190A>GCA372247588TGc.607A>G (p.Met203Val)
c.*458A>G (n.*458A>G)
c.346A>G (p.Met116Val)
 gnomAD v4
8g.132873190A>TCA372247590TGc.607A>T (p.Met203Leu)
c.*458A>T (n.*458A>T)
c.346A>T (p.Met116Leu)
8g.132873191T>ACA4882961TGc.608T>A (p.Met203Lys)
c.*459T>A (n.*459T>A)
c.347T>A (p.Met116Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132873191T>CCA372247596TGc.608T>C (p.Met203Thr)
c.*459T>C (n.*459T>C)
c.347T>C (p.Met116Thr)
 gnomAD v4
8g.132873191T>GCA372247593TGc.608T>G (p.Met203Arg)
c.*459T>G (n.*459T>G)
c.347T>G (p.Met116Arg)
8g.132873191T=CA1820984261TGc.608T= (p.Met203=)
c.*459T= (n.*459T=)
c.347T= (p.Met116=)
8g.132873192G>ACA372247599TGc.609G>A (p.Met203Ile)
c.*460G>A (n.*460G>A)
c.348G>A (p.Met116Ile)
 COSMIC
8g.132873192G>CCA372247601TGc.609G>C (p.Met203Ile)
c.*460G>C (n.*460G>C)
c.348G>C (p.Met116Ile)
 dbSNP gnomAD v3 gnomAD v4
8g.132873192G=CA1820984262TGc.609G= (p.Met203=)
c.*460G= (n.*460G=)
c.348G= (p.Met116=)
8g.132873192G>TCA372247603TGc.609G>T (p.Met203Ile)
c.*460G>T (n.*460G>T)
c.348G>T (p.Met116Ile)
8g.132873193A>CCA372247606TGc.610A>C (p.Ile204Leu)
c.*461A>C (n.*461A>C)
c.349A>C (p.Ile117Leu)
8g.132873193A>GCA372247607TGc.610A>G (p.Ile204Val)
c.*461A>G (n.*461A>G)
c.349A>G (p.Ile117Val)
8g.132873193A>TCA372247610TGc.610A>T (p.Ile204Phe)
c.*461A>T (n.*461A>T)
c.349A>T (p.Ile117Phe)
 COSMIC
8g.132873194T>ACA372247613TGc.611T>A (p.Ile204Asn)
c.*462T>A (n.*462T>A)
c.350T>A (p.Ile117Asn)
8g.132873194T>CCA372247616TGc.611T>C (p.Ile204Thr)
c.*462T>C (n.*462T>C)
c.350T>C (p.Ile117Thr)
8g.132873194T>GCA372247618TGc.611T>G (p.Ile204Ser)
c.*462T>G (n.*462T>G)
c.350T>G (p.Ile117Ser)
8g.132873195T>ACA463013941TGc.612T>A (p.Ile204=)
c.*463T>A (n.*463T>A)
c.351T>A (p.Ile117=)
 dbSNP gnomAD v2 gnomAD v4
8g.132873195T>CCA463013942TGc.612T>C (p.Ile204=)
c.*463T>C (n.*463T>C)
c.351T>C (p.Ile117=)
8g.132873195T>GCA372247619TGc.612T>G (p.Ile204Met)
c.*463T>G (n.*463T>G)
c.351T>G (p.Ile117Met)
8g.132873195T=CA1820984263TGc.612T= (p.Ile204=)
c.*463T= (n.*463T=)
c.351T= (p.Ile117=)
8g.132873196T>ACA372247621TGc.613T>A (p.Phe205Ile)
c.*464T>A (n.*464T>A)
c.352T>A (p.Phe118Ile)
8g.132873196T>CCA372247622TGc.613T>C (p.Phe205Leu)
c.*464T>C (n.*464T>C)
c.352T>C (p.Phe118Leu)
8g.132873196T>GCA372247625TGc.613T>G (p.Phe205Val)
c.*464T>G (n.*464T>G)
c.352T>G (p.Phe118Val)
8g.132873197T>ACA372247632TGc.614T>A (p.Phe205Tyr)
c.*465T>A (n.*465T>A)
c.353T>A (p.Phe118Tyr)
8g.132873197T>CCA372247630TGc.614T>C (p.Phe205Ser)
c.*465T>C (n.*465T>C)
c.353T>C (p.Phe118Ser)
 COSMIC
8g.132873197T>GCA372247627TGc.614T>G (p.Phe205Cys)
c.*465T>G (n.*465T>G)
c.353T>G (p.Phe118Cys)
 gnomAD v4
8g.132873198T>ACA372247634TGc.615T>A (p.Phe205Leu)
c.*466T>A (n.*466T>A)
c.354T>A (p.Phe118Leu)
8g.132873198T>CCA463013945TGc.615T>C (p.Phe205=)
c.*466T>C (n.*466T>C)
c.354T>C (p.Phe118=)
8g.132873198T>GCA372247636TGc.615T>G (p.Phe205Leu)
c.*466T>G (n.*466T>G)
c.354T>G (p.Phe118Leu)
8g.132873199G>ACA372247638TGc.616G>A (p.Asp206Asn)
c.*467G>A (n.*467G>A)
c.355G>A (p.Asp119Asn)
8g.132873199G>CCA372247640TGc.616G>C (p.Asp206His)
c.*467G>C (n.*467G>C)
c.355G>C (p.Asp119His)
8g.132873199G=CA1820984264TGc.616G= (p.Asp206=)
c.*467G= (n.*467G=)
c.355G= (p.Asp119=)
8g.132873199G>TCA186328644TGc.616G>T (p.Asp206Tyr)
c.*467G>T (n.*467G>T)
c.355G>T (p.Asp119Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.132873200A>CCA372247644TGc.617A>C (p.Asp206Ala)
c.*468A>C (n.*468A>C)
c.356A>C (p.Asp119Ala)
8g.132873200A>GCA372247646TGc.617A>G (p.Asp206Gly)
c.*468A>G (n.*468A>G)
c.356A>G (p.Asp119Gly)
 gnomAD v4
8g.132873200A>TCA372247647TGc.617A>T (p.Asp206Val)
c.*468A>T (n.*468A>T)
c.356A>T (p.Asp119Val)
8g.132873201T>ACA372247648TGc.618T>A (p.Asp206Glu)
c.*469T>A (n.*469T>A)
c.357T>A (p.Asp119Glu)
8g.132873201T>CCA186328648TGc.618T>C (p.Asp206=)
c.*469T>C (n.*469T>C)
c.357T>C (p.Asp119=)
 dbSNP
8g.132873201T>GCA372247649TGc.618T>G (p.Asp206Glu)
c.*469T>G (n.*469T>G)
c.357T>G (p.Asp119Glu)
8g.132873201T=CA1820984265TGc.618T= (p.Asp206=)
c.*469T= (n.*469T=)
c.357T= (p.Asp119=)
8g.132873202C>ACA372247652TGc.619C>A (p.Leu207Met)
c.*470C>A (n.*470C>A)
c.358C>A (p.Leu120Met)
 dbSNP
8g.132873202C=CA1820984266TGc.619C= (p.Leu207=)
c.*470C= (n.*470C=)
c.358C= (p.Leu120=)
8g.132873202C>GCA372247654TGc.619C>G (p.Leu207Val)
c.*470C>G (n.*470C>G)
c.358C>G (p.Leu120Val)
 gnomAD v4
8g.132873202C>TCA4882962TGc.619C>T (p.Leu207=)
c.*470C>T (n.*470C>T)
c.358C>T (p.Leu120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873203T>ACA372247661TGc.620T>A (p.Leu207Gln)
c.*471T>A (n.*471T>A)
c.359T>A (p.Leu120Gln)
8g.132873203T>CCA372247662TGc.620T>C (p.Leu207Pro)
c.*471T>C (n.*471T>C)
c.359T>C (p.Leu120Pro)
8g.132873203T>GCA372247658TGc.620T>G (p.Leu207Arg)
c.*471T>G (n.*471T>G)
c.359T>G (p.Leu120Arg)
8g.132873204G>ACA463013950TGc.621G>A (p.Leu207=)
c.*472G>A (n.*472G>A)
c.360G>A (p.Leu120=)
 gnomAD v4
8g.132873204G>CCA463013951TGc.621G>C (p.Leu207=)
c.*472G>C (n.*472G>C)
c.360G>C (p.Leu120=)
8g.132873204G>TCA463013952TGc.621G>T (p.Leu207=)
c.*472G>T (n.*472G>T)
c.360G>T (p.Leu120=)
8g.132873205G>ACA372247664TGc.622G>A (p.Val208Ile)
c.*473G>A (n.*473G>A)
c.361G>A (p.Val121Ile)
 gnomAD v4
8g.132873205G>CCA372247666TGc.622G>C (p.Val208Leu)
c.*473G>C (n.*473G>C)
c.361G>C (p.Val121Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.132873205G=CA1820984267TGc.622G= (p.Val208=)
c.*473G= (n.*473G=)
c.361G= (p.Val121=)
8g.132873205G>TCA372247667TGc.622G>T (p.Val208Phe)
c.*473G>T (n.*473G>T)
c.361G>T (p.Val121Phe)
 COSMIC
8g.132873206T>ACA372247669TGc.623T>A (p.Val208Asp)
c.*474T>A (n.*474T>A)
c.362T>A (p.Val121Asp)
8g.132873206T>CCA372247673TGc.623T>C (p.Val208Ala)
c.*474T>C (n.*474T>C)
c.362T>C (p.Val121Ala)
 gnomAD v4
8g.132873206T>GCA4882963TGc.623T>G (p.Val208Gly)
c.*474T>G (n.*474T>G)
c.362T>G (p.Val121Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873206T=CA1820984268TGc.623T= (p.Val208=)
c.*474T= (n.*474T=)
c.362T= (p.Val121=)
8g.132873207C>ACA463013958TGc.624C>A (p.Val208=)
c.*475C>A (n.*475C>A)
c.363C>A (p.Val121=)
8g.132873207C>GCA463013959TGc.624C>G (p.Val208=)
c.*475C>G (n.*475C>G)
c.363C>G (p.Val121=)
8g.132873207C>TCA463013960TGc.624C>T (p.Val208=)
c.*475C>T (n.*475C>T)
c.363C>T (p.Val121=)
8g.132873208C>ACA372247677TGc.625C>A (p.His209Asn)
c.*476C>A (n.*476C>A)
c.364C>A (p.His122Asn)
8g.132873208C>GCA372247679TGc.625C>G (p.His209Asp)
c.*476C>G (n.*476C>G)
c.364C>G (p.His122Asp)
8g.132873208C>TCA372247681TGc.625C>T (p.His209Tyr)
c.*476C>T (n.*476C>T)
c.364C>T (p.His122Tyr)
8g.132873209delCA2688648038TGc.626del (p.His209ProfsTer11)
c.*477del (n.*477del)
c.365del (p.His122ProfsTer11)
 gnomAD v4
8g.132873209A>CCA372247682TGc.626A>C (p.His209Pro)
c.*477A>C (n.*477A>C)
c.365A>C (p.His122Pro)
8g.132873209A>GCA372247685TGc.626A>G (p.His209Arg)
c.*477A>G (n.*477A>G)
c.365A>G (p.His122Arg)
8g.132873209A>TCA372247687TGc.626A>T (p.His209Leu)
c.*477A>T (n.*477A>T)
c.365A>T (p.His122Leu)
8g.132873210C>ACA372247692TGc.627C>A (p.His209Gln)
c.*478C>A (n.*478C>A)
c.366C>A (p.His122Gln)
8g.132873210C>GCA372247690TGc.627C>G (p.His209Gln)
c.*478C>G (n.*478C>G)
c.366C>G (p.His122Gln)
8g.132873210C>TCA463013966TGc.627C>T (p.His209=)
c.*478C>T (n.*478C>T)
c.366C>T (p.His122=)
8g.132873211A>CCA372247696TGc.628A>C (p.Ser210Arg)
c.*479A>C (n.*479A>C)
c.367A>C (p.Ser123Arg)
8g.132873211A>GCA372247697TGc.628A>G (p.Ser210Gly)
c.*479A>G (n.*479A>G)
c.367A>G (p.Ser123Gly)
 gnomAD v4
8g.132873211A>TCA372247700TGc.628A>T (p.Ser210Cys)
c.*479A>T (n.*479A>T)
c.367A>T (p.Ser123Cys)
8g.132873212_132873215delCA2688648039TGc.629_632del (p.Ser210ThrfsTer9)
c.*480_*483del (n.*480_*483del)
c.368_371del (p.Ser123ThrfsTer9)
 gnomAD v4
8g.132873212G>ACA372247702TGc.629G>A (p.Ser210Asn)
c.*480G>A (n.*480G>A)
c.368G>A (p.Ser123Asn)
8g.132873212G>CCA372247715TGc.629G>C (p.Ser210Thr)
c.*480G>C (n.*480G>C)
c.368G>C (p.Ser123Thr)
8g.132873212G>TCA372247716TGc.629G>T (p.Ser210Ile)
c.*480G>T (n.*480G>T)
c.368G>T (p.Ser123Ile)
8g.132873213C>ACA372247717TGc.630C>A (p.Ser210Arg)
c.*481C>A (n.*481C>A)
c.369C>A (p.Ser123Arg)
 dbSNP gnomAD v4
8g.132873213C=CA1820984269TGc.630C= (p.Ser210=)
c.*481C= (n.*481C=)
c.369C= (p.Ser123=)
8g.132873213C>GCA372247718TGc.630C>G (p.Ser210Arg)
c.*481C>G (n.*481C>G)
c.369C>G (p.Ser123Arg)
8g.132873213C>TCA463013970TGc.630C>T (p.Ser210=)
c.*481C>T (n.*481C>T)
c.369C>T (p.Ser123=)
 dbSNP gnomAD v2
8g.132873214T>ACA372247721TGc.631T>A (p.Tyr211Asn)
c.*482T>A (n.*482T>A)
c.370T>A (p.Tyr124Asn)
8g.132873214T>CCA372247722TGc.631T>C (p.Tyr211His)
c.*482T>C (n.*482T>C)
c.370T>C (p.Tyr124His)
8g.132873214T>GCA372247723TGc.631T>G (p.Tyr211Asp)
c.*482T>G (n.*482T>G)
c.370T>G (p.Tyr124Asp)
8g.132873215A>CCA372247731TGc.632A>C (p.Tyr211Ser)
c.*483A>C (n.*483A>C)
c.371A>C (p.Tyr124Ser)
8g.132873215A>GCA372247728TGc.632A>G (p.Tyr211Cys)
c.*483A>G (n.*483A>G)
c.371A>G (p.Tyr124Cys)
 gnomAD v4
8g.132873215A>TCA372247726TGc.632A>T (p.Tyr211Phe)
c.*483A>T (n.*483A>T)
c.371A>T (p.Tyr124Phe)
8g.132873216C>ACA372247734TGc.633C>A (p.Tyr211Ter)
c.*484C>A (n.*484C>A)
c.372C>A (p.Tyr124Ter)
8g.132873216C=CA1820984270TGc.633C= (p.Tyr211=)
c.*484C= (n.*484C=)
c.372C= (p.Tyr124=)
8g.132873216C>GCA372247735TGc.633C>G (p.Tyr211Ter)
c.*484C>G (n.*484C>G)
c.372C>G (p.Tyr124Ter)
 dbSNP
8g.132873216C>TCA463013973TGc.633C>T (p.Tyr211=)
c.*484C>T (n.*484C>T)
c.372C>T (p.Tyr124=)
 dbSNP
8g.132873217A>CCA372247738TGc.634A>C (p.Asn212His)
c.*485A>C (n.*485A>C)
c.373A>C (p.Asn125His)
8g.132873217A>GCA372247742TGc.634A>G (p.Asn212Asp)
c.*485A>G (n.*485A>G)
c.373A>G (p.Asn125Asp)
8g.132873217A>TCA372247740TGc.634A>T (p.Asn212Tyr)
c.*485A>T (n.*485A>T)
c.373A>T (p.Asn125Tyr)
8g.132873218A=CA1820984271TGc.635A= (p.Asn212=)
c.*486A= (n.*486A=)
c.374A= (p.Asn125=)
8g.132873218A>CCA372247745TGc.635A>C (p.Asn212Thr)
c.*486A>C (n.*486A>C)
c.374A>C (p.Asn125Thr)
8g.132873218A>GCA4882964TGc.635A>G (p.Asn212Ser)
c.*486A>G (n.*486A>G)
c.374A>G (p.Asn125Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873218A>TCA372247750TGc.635A>T (p.Asn212Ile)
c.*486A>T (n.*486A>T)
c.374A>T (p.Asn125Ile)
8g.132873219C>ACA372247752TGc.636C>A (p.Asn212Lys)
c.*487C>A (n.*487C>A)
c.375C>A (p.Asn125Lys)
8g.132873219C=CA1820984272TGc.636C= (p.Asn212=)
c.*487C= (n.*487C=)
c.375C= (p.Asn125=)
8g.132873219C>GCA372247755TGc.636C>G (p.Asn212Lys)
c.*487C>G (n.*487C>G)
c.375C>G (p.Asn125Lys)
8g.132873219C>TCA4882965TGc.636C>T (p.Asn212=)
c.*487C>T (n.*487C>T)
c.375C>T (p.Asn125=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873220A=CA1820984273TGc.637A= (p.Arg213=)
c.*488A= (n.*488A=)
c.376A= (p.Arg126=)
8g.132873220A>CCA463013977TGc.637A>C (p.Arg213=)
c.*488A>C (n.*488A>C)
c.376A>C (p.Arg126=)
8g.132873220A>GCA372247760TGc.637A>G (p.Arg213Gly)
c.*488A>G (n.*488A>G)
c.376A>G (p.Arg126Gly)
 dbSNP
8g.132873220A>TCA372247762TGc.637A>T (p.Arg213Trp)
c.*488A>T (n.*488A>T)
c.376A>T (p.Arg126Trp)
8g.132873221G>ACA372247765TGc.638G>A (p.Arg213Lys)
c.*489G>A (n.*489G>A)
c.377G>A (p.Arg126Lys)
8g.132873221G>CCA372247767TGc.638G>C (p.Arg213Thr)
c.*489G>C (n.*489G>C)
c.377G>C (p.Arg126Thr)
 dbSNP
8g.132873221G=CA1820984274TGc.638G= (p.Arg213=)
c.*489G= (n.*489G=)
c.377G= (p.Arg126=)
8g.132873221G>TCA372247769TGc.638G>T (p.Arg213Met)
c.*489G>T (n.*489G>T)
c.377G>T (p.Arg126Met)
8g.132873222G>ACA372247777TGc.638+1G>A (n.638+1G>A)
c.*489+1G>A (n.*489+1G>A)
c.377+1G>A (n.377+1G>A)
 ClinVar dbSNP
8g.132873222G>CCA372247774TGc.638+1G>C (n.638+1G>C)
c.*489+1G>C (n.*489+1G>C)
c.377+1G>C (n.377+1G>C)
8g.132873222G=CA1820984275TGc.638+1G= (n.638+1G=)
c.*489+1G= (n.*489+1G=)
c.377+1G= (n.377+1G=)
8g.132873222G>TCA372247771TGc.638+1G>T (n.638+1G>T)
c.*489+1G>T (n.*489+1G>T)
c.377+1G>T (n.377+1G>T)
8g.132873223T>ACA372247780TGc.638+2T>A (n.638+2T>A)
c.*489+2T>A (n.*489+2T>A)
c.377+2T>A (n.377+2T>A)
8g.132873223T>CCA372247782TGc.638+2T>C (n.638+2T>C)
c.*489+2T>C (n.*489+2T>C)
c.377+2T>C (n.377+2T>C)
8g.132873223T>GCA372247785TGc.638+2T>G (n.638+2T>G)
c.*489+2T>G (n.*489+2T>G)
c.377+2T>G (n.377+2T>G)
8g.132873225A>TCA2718409245TGc.638+4A>T (n.638+4A>T)
c.*489+4A>T (n.*489+4A>T)
c.377+4A>T (n.377+4A>T)
 dbSNP
8g.132873226G>ACA353884TGc.638+5G>A (n.638+5G>A)
c.*489+5G>A (n.*489+5G>A)
c.377+5G>A (n.377+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873226G=CA1820984276TGc.638+5G= (n.638+5G=)
c.*489+5G= (n.*489+5G=)
c.377+5G= (n.377+5G=)
8g.132873227G>ACA4882967TGc.638+6G>A (n.638+6G>A)
c.*489+6G>A (n.*489+6G>A)
c.377+6G>A (n.377+6G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873227G>CCA4882966TGc.638+6G>C (n.638+6G>C)
c.*489+6G>C (n.*489+6G>C)
c.377+6G>C (n.377+6G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873227G=CA1820984277TGc.638+6G= (n.638+6G=)
c.*489+6G= (n.*489+6G=)
c.377+6G= (n.377+6G=)
8g.132873228G>ACA2688648040TGc.638+7G>A (n.638+7G>A)
c.*489+7G>A (n.*489+7G>A)
c.377+7G>A (n.377+7G>A)
 gnomAD v4
8g.132873229G>ACA2688648041TGc.638+8G>A (n.638+8G>A)
c.*489+8G>A (n.*489+8G>A)
c.377+8G>A (n.377+8G>A)
 ClinVar gnomAD v4
8g.132873231G>ACA2688648043TGc.638+10G>A (n.638+10G>A)
c.*489+10G>A (n.*489+10G>A)
c.377+10G>A (n.377+10G>A)
 gnomAD v4
8g.132873233_132873242delCA2688648042TGc.638+12_638+21del (n.638+12_638+21del)
c.*489+12_*489+21del (n.*489+12_*489+21del)
c.377+12_377+21del (n.377+12_377+21del)
 ClinVar gnomAD v4
8g.132873232C>GCA2688648044TGc.638+11C>G (n.638+11C>G)
c.*489+11C>G (n.*489+11C>G)
c.377+11C>G (n.377+11C>G)
 gnomAD v4
8g.132873233_132873234delinsAGCA1820984278TGc.638+12_638+13delinsAG (n.638+12_638+13delinsAG)
c.*489+12_*489+13delinsAG (n.*489+12_*489+13delinsAG)
c.377+12_377+13delinsAG (n.377+12_377+13delinsAG)
8g.132873234G>ACA186328664TGc.638+13G>A (n.638+13G>A)
c.*489+13G>A (n.*489+13G>A)
c.377+13G>A (n.377+13G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.132873234G=CA1820984280TGc.638+13G= (n.638+13G=)
c.*489+13G= (n.*489+13G=)
c.377+13G= (n.377+13G=)
8g.132873237delCA1820984279TGc.638+16del (n.638+16del)
c.*489+16del (n.*489+16del)
c.377+16del (n.377+16del)
 dbSNP gnomAD v4
8g.132873235G>ACA4882968TGc.638+14G>A (n.638+14G>A)
c.*489+14G>A (n.*489+14G>A)
c.377+14G>A (n.377+14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873235G=CA1820984281TGc.638+14G= (n.638+14G=)
c.*489+14G= (n.*489+14G=)
c.377+14G= (n.377+14G=)
8g.132873235G>TCA2688648045TGc.638+14G>T (n.638+14G>T)
c.*489+14G>T (n.*489+14G>T)
c.377+14G>T (n.377+14G>T)
 gnomAD v4
8g.132873236G>CCA4882969TGc.638+15G>C (n.638+15G>C)
c.*489+15G>C (n.*489+15G>C)
c.377+15G>C (n.377+15G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873236G=CA1820984282TGc.638+15G= (n.638+15G=)
c.*489+15G= (n.*489+15G=)
c.377+15G= (n.377+15G=)
8g.132873237G>ACA2688648046TGc.638+16G>A (n.638+16G>A)
c.*489+16G>A (n.*489+16G>A)
c.377+16G>A (n.377+16G>A)
 gnomAD v4
8g.132873237G>TCA2688648047TGc.638+16G>T (n.638+16G>T)
c.*489+16G>T (n.*489+16G>T)
c.377+16G>T (n.377+16G>T)
 gnomAD v4
8g.132873238T>CCA584914003TGc.638+17T>C (n.638+17T>C)
c.*489+17T>C (n.*489+17T>C)
c.377+17T>C (n.377+17T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132873238T=CA1820984283TGc.638+17T= (n.638+17T=)
c.*489+17T= (n.*489+17T=)
c.377+17T= (n.377+17T=)

Number of alleles fetched