Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111401222dupCA2499226335DCXc.478dup (p.Gln160ProfsTer5)
c.721dup (p.Gln241ProfsTer5)
c.696dup
n.718dup
 ClinVar dbSNP
Xg.111401222delCA2499226334DCXc.478del (p.Gln160SerfsTer30)
c.721del (p.Gln241SerfsTer30)
c.696del
n.718del
 ClinVar dbSNP
Xg.111401222G>ACA414246287DCXc.473C>T (p.Ala158Val)
c.716C>T (p.Ala239Val)
c.691C>T
n.713C>T
 dbSNP gnomAD v2 gnomAD v4
Xg.111401222G>CCA414246288DCXc.473C>G (p.Ala158Gly)
c.716C>G (p.Ala239Gly)
c.691C>G
n.713C>G
Xg.111401222G=CA2451697264DCXc.473C= (p.Ala158=)
c.716C= (p.Ala239=)
c.691C=
n.713C=
Xg.111401222G>TCA414246289DCXc.473C>A (p.Ala158Asp)
c.716C>A (p.Ala239Asp)
c.691C>A
n.713C>A
Xg.111401223C>ACA414246290DCXc.472G>T (p.Ala158Ser)
c.715G>T (p.Ala239Ser)
c.690G>T
n.712G>T
 COSMIC COSMIC
Xg.111401223C>GCA414246291DCXc.472G>C (p.Ala158Pro)
c.715G>C (p.Ala239Pro)
c.690G>C
n.712G>C
Xg.111401223C>TCA414246292DCXc.472G>A (p.Ala158Thr)
c.715G>A (p.Ala239Thr)
c.690G>A
n.712G>A
Xg.111401224T>ACA414246294DCXc.471A>T (p.Lys157Asn)
c.714A>T (p.Lys238Asn)
c.689A>T
n.711A>T
Xg.111401224T>CCA518114203DCXc.471A>G (p.Lys157=)
c.714A>G (p.Lys238=)
c.689A>G
n.711A>G
Xg.111401224T>GCA414246293DCXc.471A>C (p.Lys157Asn)
c.714A>C (p.Lys238Asn)
c.689A>C
n.711A>C
Xg.111401225T>ACA414246295DCXc.470A>T (p.Lys157Ile)
c.713A>T (p.Lys238Ile)
c.688A>T
n.710A>T
Xg.111401225T>CCA414246296DCXc.470A>G (p.Lys157Arg)
c.713A>G (p.Lys238Arg)
c.688A>G
n.710A>G
Xg.111401225T>GCA414246297DCXc.470A>C (p.Lys157Thr)
c.713A>C (p.Lys238Thr)
c.688A>C
n.710A>C
Xg.111401226T>ACA414246298DCXc.469A>T (p.Lys157Ter)
c.712A>T (p.Lys238Ter)
c.687A>T
n.709A>T
Xg.111401226T>CCA414246299DCXc.469A>G (p.Lys157Glu)
c.712A>G (p.Lys238Glu)
c.687A>G
n.709A>G
 COSMIC
Xg.111401226T>GCA414246300DCXc.469A>C (p.Lys157Gln)
c.712A>C (p.Lys238Gln)
c.687A>C
n.709A>C
Xg.111401227C>ACA414246302DCXc.468G>T (p.Met156Ile)
c.711G>T (p.Met237Ile)
c.686G>T
n.708G>T
Xg.111401227C=CA2451697265DCXc.468G= (p.Met156=)
c.711G= (p.Met237=)
c.686G=
n.708G=
Xg.111401227C>GCA414246301DCXc.468G>C (p.Met156Ile)
c.711G>C (p.Met237Ile)
c.686G>C
n.708G>C
Xg.111401227C>TCA334420247DCXc.468G>A (p.Met156Ile)
c.711G>A (p.Met237Ile)
c.686G>A
n.708G>A
 dbSNP
Xg.111401228A>CCA414246303DCXc.467T>G (p.Met156Arg)
c.710T>G (p.Met237Arg)
c.685T>G
n.707T>G
Xg.111401228A>GCA414246304DCXc.467T>C (p.Met156Thr)
c.710T>C (p.Met237Thr)
c.685T>C
n.707T>C
Xg.111401228A>TCA414246305DCXc.467T>A (p.Met156Lys)
c.710T>A (p.Met237Lys)
c.685T>A
n.707T>A
Xg.111401228dupCA10603401DCXc.467dup (p.Met156IlefsTer9)
c.710dup (p.Met237IlefsTer9)
c.685dup
n.707dup
 ClinVar dbSNP
Xg.111401228_111401231delCA2561695268DCXc.464_467del (p.Asn155ArgfsTer?)
c.707_710del (p.Asn236ArgfsTer?)
c.682_685del
n.704_707del
Xg.111401229T>ACA414246306DCXc.466A>T (p.Met156Leu)
c.709A>T (p.Met237Leu)
c.684A>T
n.706A>T
 gnomAD v4
Xg.111401229T>CCA414246307DCXc.466A>G (p.Met156Val)
c.709A>G (p.Met237Val)
c.684A>G
n.706A>G
Xg.111401229T>GCA414246308DCXc.466A>C (p.Met156Leu)
c.709A>C (p.Met237Leu)
c.684A>C
n.706A>C
Xg.111401230A>CCA414246309DCXc.465T>G (p.Asn155Lys)
c.708T>G (p.Asn236Lys)
c.683T>G
n.705T>G
Xg.111401230A>GCA518114204DCXc.465T>C (p.Asn155=)
c.708T>C (p.Asn236=)
c.683T>C
n.705T>C
 gnomAD v4
Xg.111401230A>TCA414246310DCXc.465T>A (p.Asn155Lys)
c.708T>A (p.Asn236Lys)
c.683T>A
n.705T>A
Xg.111401231T>ACA414246311DCXc.464A>T (p.Asn155Ile)
c.707A>T (p.Asn236Ile)
c.682A>T
n.704A>T
Xg.111401231T>CCA414246313DCXc.464A>G (p.Asn155Ser)
c.707A>G (p.Asn236Ser)
c.682A>G
n.704A>G
 dbSNP gnomAD v2 gnomAD v4
Xg.111401231T>GCA414246312DCXc.464A>C (p.Asn155Thr)
c.707A>C (p.Asn236Thr)
c.682A>C
n.704A>C
Xg.111401231T=CA2451697266DCXc.464A= (p.Asn155=)
c.707A= (p.Asn236=)
c.682A=
n.704A=
Xg.111401232delCA2695235804DCXc.464del (p.Asn155IlefsTer2)
c.707del (p.Asn236IlefsTer2)
c.682del
n.704del
Xg.111401232T>ACA414246314DCXc.463A>T (p.Asn155Tyr)
c.706A>T (p.Asn236Tyr)
c.681A>T
n.703A>T
Xg.111401232T>CCA414246316DCXc.463A>G (p.Asn155Asp)
c.706A>G (p.Asn236Asp)
c.681A>G
n.703A>G
 gnomAD v4
Xg.111401232T>GCA414246315DCXc.463A>C (p.Asn155His)
c.706A>C (p.Asn236His)
c.681A>C
n.703A>C
Xg.111401233G>ACA518114205DCXc.462C>T (p.Ala154=)
c.705C>T (p.Ala235=)
c.680C>T
n.702C>T
Xg.111401233G>CCA518114206DCXc.462C>G (p.Ala154=)
c.705C>G (p.Ala235=)
c.680C>G
n.702C>G
Xg.111401233G>TCA518114207DCXc.462C>A (p.Ala154=)
c.705C>A (p.Ala235=)
c.680C>A
n.702C>A
Xg.111401234G>ACA414246317DCXc.461C>T (p.Ala154Val)
c.704C>T (p.Ala235Val)
c.679C>T
n.701C>T
Xg.111401234G>CCA414246319DCXc.461C>G (p.Ala154Gly)
c.704C>G (p.Ala235Gly)
c.679C>G
n.701C>G
Xg.111401234G>TCA414246318DCXc.461C>A (p.Ala154Asp)
c.704C>A (p.Ala235Asp)
c.679C>A
n.701C>A
Xg.111401234_111401235insTTAGCA2509294496DCXc.461_462insTAAC (p.Met156GlnfsTer10)
c.704_705insTAAC (p.Met237GlnfsTer10)
c.679_680insTAAC
n.701_702insTAAC
Xg.111401235C>ACA414246320DCXc.460G>T (p.Ala154Ser)
c.703G>T (p.Ala235Ser)
c.678G>T
n.700G>T
Xg.111401235C>GCA414246321DCXc.460G>C (p.Ala154Pro)
c.703G>C (p.Ala235Pro)
c.678G>C
n.700G>C
Xg.111401235C>TCA414246322DCXc.460G>A (p.Ala154Thr)
c.703G>A (p.Ala235Thr)
c.678G>A
n.700G>A
Xg.111401236A>CCA518114208DCXc.459T>G (p.Ser153=)
c.702T>G (p.Ser234=)
c.677T>G
n.699T>G
Xg.111401236A>GCA518114209DCXc.459T>C (p.Ser153=)
c.702T>C (p.Ser234=)
c.677T>C
n.699T>C
Xg.111401236A>TCA518114210DCXc.459T>A (p.Ser153=)
c.702T>A (p.Ser234=)
c.677T>A
n.699T>A
Xg.111401237G>ACA414246323DCXc.458C>T (p.Ser153Phe)
c.701C>T (p.Ser234Phe)
c.676C>T
n.698C>T
Xg.111401237G>CCA414246324DCXc.458C>G (p.Ser153Cys)
c.701C>G (p.Ser234Cys)
c.676C>G
n.698C>G
Xg.111401237G>TCA414246325DCXc.458C>A (p.Ser153Tyr)
c.701C>A (p.Ser234Tyr)
c.676C>A
n.698C>A
 COSMIC COSMIC
Xg.111401238A>CCA414246326DCXc.457T>G (p.Ser153Ala)
c.700T>G (p.Ser234Ala)
c.675T>G
n.697T>G
Xg.111401238A>GCA414246327DCXc.457T>C (p.Ser153Pro)
c.700T>C (p.Ser234Pro)
c.675T>C
n.697T>C
Xg.111401238A>TCA414246328DCXc.457T>A (p.Ser153Thr)
c.700T>A (p.Ser234Thr)
c.675T>A
n.697T>A
Xg.111401239T>ACA518114211DCXc.456A>T (p.Thr152=)
c.699A>T (p.Thr233=)
c.674A>T
n.696A>T
 gnomAD v4
Xg.111401239T>CCA518114212DCXc.456A>G (p.Thr152=)
c.699A>G (p.Thr233=)
c.674A>G
n.696A>G
 gnomAD v4
Xg.111401239T>GCA518114213DCXc.456A>C (p.Thr152=)
c.699A>C (p.Thr233=)
c.674A>C
n.696A>C
Xg.111401240G>ACA414246331DCXc.455C>T (p.Thr152Ile)
c.698C>T (p.Thr233Ile)
c.673C>T
n.695C>T
Xg.111401240G>CCA414246330DCXc.455C>G (p.Thr152Arg)
c.698C>G (p.Thr233Arg)
c.673C>G
n.695C>G
Xg.111401240G>TCA414246329DCXc.455C>A (p.Thr152Lys)
c.698C>A (p.Thr233Lys)
c.673C>A
n.695C>A
Xg.111401241T>ACA414246332DCXc.454A>T (p.Thr152Ser)
c.697A>T (p.Thr233Ser)
c.672A>T
n.694A>T
Xg.111401241T>CCA414246333DCXc.454A>G (p.Thr152Ala)
c.697A>G (p.Thr233Ala)
c.672A>G
n.694A>G
 gnomAD v4
Xg.111401241T>GCA414246334DCXc.454A>C (p.Thr152Pro)
c.697A>C (p.Thr233Pro)
c.672A>C
n.694A>C
Xg.111401245dupCA2695235805DCXc.454dup (p.Thr152AsnfsTer13)
c.697dup (p.Thr233AsnfsTer13)
c.672dup
n.694dup
Xg.111401245delCA518114214DCXc.454del (p.Thr152HisfsTer5)
c.697del (p.Thr233HisfsTer5)
c.672del
n.694del
 COSMIC
Xg.111401242T>ACA414246335DCXc.453A>T (p.Lys151Asn)
c.696A>T (p.Lys232Asn)
c.671A>T
n.693A>T
Xg.111401242T>CCA518114215DCXc.453A>G (p.Lys151=)
c.696A>G (p.Lys232=)
c.671A>G
n.693A>G
Xg.111401242T>GCA414246336DCXc.453A>C (p.Lys151Asn)
c.696A>C (p.Lys232Asn)
c.671A>C
n.693A>C
Xg.111401243T>ACA414246337DCXc.452A>T (p.Lys151Ile)
c.695A>T (p.Lys232Ile)
c.670A>T
n.692A>T
Xg.111401243T>CCA414246338DCXc.452A>G (p.Lys151Arg)
c.695A>G (p.Lys232Arg)
c.670A>G
n.692A>G
Xg.111401243T>GCA414246339DCXc.452A>C (p.Lys151Thr)
c.695A>C (p.Lys232Thr)
c.670A>C
n.692A>C
Xg.111401244T>ACA171966DCXc.451A>T (p.Lys151Ter)
c.694A>T (p.Lys232Ter)
c.669A>T
n.691A>T
 ClinVar dbSNP
Xg.111401244T>CCA171963DCXc.451A>G (p.Lys151Glu)
c.694A>G (p.Lys232Glu)
c.669A>G
n.691A>G
 ClinVar dbSNP
Xg.111401244T>GCA414246340DCXc.451A>C (p.Lys151Gln)
c.694A>C (p.Lys232Gln)
c.669A>C
n.691A>C
Xg.111401244T=CA2451697267DCXc.451A= (p.Lys151=)
c.694A= (p.Lys232=)
c.669A=
n.691A=
Xg.111401245T>ACA518114216DCXc.450A>T (p.Val150=)
c.693A>T (p.Val231=)
c.668A>T
n.690A>T
Xg.111401245T>CCA518114217DCXc.450A>G (p.Val150=)
c.693A>G (p.Val231=)
c.668A>G
n.690A>G
Xg.111401245T>GCA518114218DCXc.450A>C (p.Val150=)
c.693A>C (p.Val231=)
c.668A>C
n.690A>C
Xg.111401246A>CCA414246342DCXc.449T>G (p.Val150Gly)
c.692T>G (p.Val231Gly)
c.667T>G
n.689T>G
Xg.111401246A>GCA414246343DCXc.449T>C (p.Val150Ala)
c.692T>C (p.Val231Ala)
c.667T>C
n.689T>C
Xg.111401246A>TCA414246341DCXc.449T>A (p.Val150Glu)
c.692T>A (p.Val231Glu)
c.667T>A
n.689T>A
Xg.111401247C>ACA414246344DCXc.448G>T (p.Val150Leu)
c.691G>T (p.Val231Leu)
c.666G>T
n.688G>T
Xg.111401247C=CA2451697268DCXc.448G= (p.Val150=)
c.691G= (p.Val231=)
c.666G=
n.688G=
Xg.111401247C>GCA414246345DCXc.448G>C (p.Val150Leu)
c.691G>C (p.Val231Leu)
c.666G>C
n.688G>C
Xg.111401247C>TCA414246346DCXc.448G>A (p.Val150Ile)
c.691G>A (p.Val231Ile)
c.666G>A
n.688G>A
 dbSNP gnomAD v4
Xg.111401248G>ACA10493322DCXc.447C>T (p.Asn149=)
c.690C>T (p.Asn230=)
c.665C>T
n.687C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401248G>CCA414246347DCXc.447C>G (p.Asn149Lys)
c.690C>G (p.Asn230Lys)
c.665C>G
n.687C>G
Xg.111401248G=CA2451697269DCXc.447C= (p.Asn149=)
c.690C= (p.Asn230=)
c.665C=
n.687C=
Xg.111401248G>TCA414246348DCXc.447C>A (p.Asn149Lys)
c.690C>A (p.Asn230Lys)
c.665C>A
n.687C>A
Xg.111401249T>ACA414246349DCXc.446A>T (p.Asn149Ile)
c.689A>T (p.Asn230Ile)
c.664A>T
n.686A>T
Xg.111401249T>CCA414246350DCXc.446A>G (p.Asn149Ser)
c.689A>G (p.Asn230Ser)
c.664A>G
n.686A>G
Xg.111401249T>GCA414246351DCXc.446A>C (p.Asn149Thr)
c.689A>C (p.Asn230Thr)
c.664A>C
n.686A>C
Xg.111401250T>ACA414246352DCXc.445A>T (p.Asn149Tyr)
c.688A>T (p.Asn230Tyr)
c.663A>T
n.685A>T
Xg.111401250T>CCA414246353DCXc.445A>G (p.Asn149Asp)
c.688A>G (p.Asn230Asp)
c.663A>G
n.685A>G
Xg.111401250T>GCA414246354DCXc.445A>C (p.Asn149His)
c.688A>C (p.Asn230His)
c.663A>C
n.685A>C
Xg.111401251G>ACA518114223DCXc.444C>T (p.Val148=)
c.687C>T (p.Val229=)
c.662C>T
n.684C>T
Xg.111401251G>CCA518114225DCXc.444C>G (p.Val148=)
c.687C>G (p.Val229=)
c.662C>G
n.684C>G
Xg.111401251G>TCA518114226DCXc.444C>A (p.Val148=)
c.687C>A (p.Val229=)
c.662C>A
n.684C>A
Xg.111401252A>CCA414246357DCXc.443T>G (p.Val148Gly)
c.686T>G (p.Val229Gly)
c.661T>G
n.683T>G
Xg.111401252A>GCA414246355DCXc.443T>C (p.Val148Ala)
c.686T>C (p.Val229Ala)
c.661T>C
n.683T>C
Xg.111401252A>TCA414246356DCXc.443T>A (p.Val148Asp)
c.686T>A (p.Val229Asp)
c.661T>A
n.683T>A
Xg.111401253C>ACA414246358DCXc.442G>T (p.Val148Phe)
c.685G>T (p.Val229Phe)
c.660G>T
n.682G>T
Xg.111401253C>GCA414246359DCXc.442G>C (p.Val148Leu)
c.685G>C (p.Val229Leu)
c.660G>C
n.682G>C
Xg.111401253C>TCA414246360DCXc.442G>A (p.Val148Ile)
c.685G>A (p.Val229Ile)
c.660G>A
n.682G>A
Xg.111401254A>CCA518114231DCXc.441T>G (p.Ser147=)
c.684T>G (p.Ser228=)
c.659T>G
n.681T>G
Xg.111401254A>GCA518114233DCXc.441T>C (p.Ser147=)
c.684T>C (p.Ser228=)
c.659T>C
n.681T>C
Xg.111401254A>TCA518114232DCXc.441T>A (p.Ser147=)
c.684T>A (p.Ser228=)
c.659T>A
n.681T>A
Xg.111401255G>ACA414246361DCXc.440C>T (p.Ser147Phe)
c.683C>T (p.Ser228Phe)
c.658C>T
n.680C>T
 COSMIC COSMIC
Xg.111401255G>CCA414246362DCXc.440C>G (p.Ser147Cys)
c.683C>G (p.Ser228Cys)
c.658C>G
n.680C>G
Xg.111401255G>TCA414246363DCXc.440C>A (p.Ser147Tyr)
c.683C>A (p.Ser228Tyr)
c.658C>A
n.680C>A
Xg.111401256A>CCA414246364DCXc.439T>G (p.Ser147Ala)
c.682T>G (p.Ser228Ala)
c.657T>G
n.679T>G
Xg.111401256A>GCA414246365DCXc.439T>C (p.Ser147Pro)
c.682T>C (p.Ser228Pro)
c.657T>C
n.679T>C
 ClinVar
Xg.111401256A>TCA414246366DCXc.439T>A (p.Ser147Thr)
c.682T>A (p.Ser228Thr)
c.657T>A
n.679T>A
Xg.111401257C>ACA414246367DCXc.438G>T (p.Trp146Cys)
c.681G>T (p.Trp227Cys)
c.656G>T
n.678G>T
 ClinVar
Xg.111401257C>GCA414246368DCXc.438G>C (p.Trp146Cys)
c.681G>C (p.Trp227Cys)
c.656G>C
n.678G>C
Xg.111401257C>TCA414246369DCXc.438G>A (p.Trp146Ter)
c.681G>A (p.Trp227Ter)
c.656G>A
n.678G>A
Xg.111401258C>ACA414246371DCXc.437G>T (p.Trp146Leu)
c.680G>T (p.Trp227Leu)
c.655G>T
n.677G>T
Xg.111401258C>GCA414246372DCXc.437G>C (p.Trp146Ser)
c.680G>C (p.Trp227Ser)
c.655G>C
n.677G>C
Xg.111401258C>TCA414246370DCXc.437G>A (p.Trp146Ter)
c.680G>A (p.Trp227Ter)
c.655G>A
n.677G>A
Xg.111401259A>CCA414246375DCXc.436T>G (p.Trp146Gly)
c.679T>G (p.Trp227Gly)
c.654T>G
n.676T>G
Xg.111401259A>GCA414246373DCXc.436T>C (p.Trp146Arg)
c.679T>C (p.Trp227Arg)
c.654T>C
n.676T>C
Xg.111401259A>TCA414246374DCXc.436T>A (p.Trp146Arg)
c.679T>A (p.Trp227Arg)
c.654T>A
n.676T>A
Xg.111401260G>ACA518114239DCXc.435C>T (p.Asn145=)
c.678C>T (p.Asn226=)
c.653C>T
n.675C>T
Xg.111401260G>CCA414246376DCXc.435C>G (p.Asn145Lys)
c.678C>G (p.Asn226Lys)
c.653C>G
n.675C>G
Xg.111401260G>TCA414246377DCXc.435C>A (p.Asn145Lys)
c.678C>A (p.Asn226Lys)
c.653C>A
n.675C>A
 COSMIC COSMIC
Xg.111401261T>ACA414246378DCXc.434A>T (p.Asn145Ile)
c.677A>T (p.Asn226Ile)
c.652A>T
n.674A>T
Xg.111401261T>CCA414246379DCXc.434A>G (p.Asn145Ser)
c.677A>G (p.Asn226Ser)
c.652A>G
n.674A>G
 gnomAD v4
Xg.111401261T>GCA414246380DCXc.434A>C (p.Asn145Thr)
c.677A>C (p.Asn226Thr)
c.652A>C
n.674A>C
Xg.111401262T>ACA414246381DCXc.433A>T (p.Asn145Tyr)
c.676A>T (p.Asn226Tyr)
c.651A>T
n.673A>T
Xg.111401262T>CCA414246382DCXc.433A>G (p.Asn145Asp)
c.676A>G (p.Asn226Asp)
c.651A>G
n.673A>G
Xg.111401262T>GCA414246383DCXc.433A>C (p.Asn145His)
c.676A>C (p.Asn226His)
c.651A>C
n.673A>C
Xg.111401263G>ACA518114242DCXc.432C>T (p.Pro144=)
c.675C>T (p.Pro225=)
c.650C>T
n.672C>T
Xg.111401263G>CCA518114243DCXc.432C>G (p.Pro144=)
c.675C>G (p.Pro225=)
c.650C>G
n.672C>G
Xg.111401263G>TCA518114244DCXc.432C>A (p.Pro144=)
c.675C>A (p.Pro225=)
c.650C>A
n.672C>A
Xg.111401264G>ACA414246384DCXc.431C>T (p.Pro144Leu)
c.674C>T (p.Pro225Leu)
c.649C>T
n.671C>T
Xg.111401264G>CCA414246385DCXc.431C>G (p.Pro144Arg)
c.674C>G (p.Pro225Arg)
c.649C>G
n.671C>G
Xg.111401264G>TCA414246386DCXc.431C>A (p.Pro144His)
c.674C>A (p.Pro225His)
c.649C>A
n.671C>A
Xg.111401265G>ACA414246389DCXc.430C>T (p.Pro144Ser)
c.673C>T (p.Pro225Ser)
c.648C>T
n.670C>T
Xg.111401265G>CCA414246387DCXc.430C>G (p.Pro144Ala)
c.673C>G (p.Pro225Ala)
c.648C>G
n.670C>G
Xg.111401265G>TCA414246388DCXc.430C>A (p.Pro144Thr)
c.673C>A (p.Pro225Thr)
c.648C>A
n.670C>A
Xg.111401266A=CA2451697270DCXc.429T= (p.Asn143=)
c.672T= (p.Asn224=)
c.647T=
n.669T=
Xg.111401266A>CCA414246390DCXc.429T>G (p.Asn143Lys)
c.672T>G (p.Asn224Lys)
c.647T>G
n.669T>G
Xg.111401266A>GCA10493323DCXc.429T>C (p.Asn143=)
c.672T>C (p.Asn224=)
c.647T>C
n.669T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401266A>TCA414246391DCXc.429T>A (p.Asn143Lys)
c.672T>A (p.Asn224Lys)
c.647T>A
n.669T>A
Xg.111401267T>ACA414246392DCXc.428A>T (p.Asn143Ile)
c.671A>T (p.Asn224Ile)
c.646A>T
n.668A>T
Xg.111401267T>CCA414246393DCXc.428A>G (p.Asn143Ser)
c.671A>G (p.Asn224Ser)
c.646A>G
n.668A>G
Xg.111401267T>GCA414246394DCXc.428A>C (p.Asn143Thr)
c.671A>C (p.Asn224Thr)
c.646A>C
n.668A>C
Xg.111401268T>ACA414246395DCXc.427A>T (p.Asn143Tyr)
c.670A>T (p.Asn224Tyr)
c.645A>T
n.667A>T
Xg.111401268T>CCA414246396DCXc.427A>G (p.Asn143Asp)
c.670A>G (p.Asn224Asp)
c.645A>G
n.667A>G
Xg.111401268T>GCA414246397DCXc.427A>C (p.Asn143His)
c.670A>C (p.Asn224His)
c.645A>C
n.667A>C
Xg.111401269G>ACA518114247DCXc.426C>T (p.Val142=)
c.669C>T (p.Val223=)
c.644C>T
n.666C>T
 gnomAD v4
Xg.111401269G>CCA518114248DCXc.426C>G (p.Val142=)
c.669C>G (p.Val223=)
c.644C>G
n.666C>G
 gnomAD v4
Xg.111401269G>TCA518114249DCXc.426C>A (p.Val142=)
c.669C>A (p.Val223=)
c.644C>A
n.666C>A
Xg.111401270A>CCA414246398DCXc.425T>G (p.Val142Gly)
c.668T>G (p.Val223Gly)
c.643T>G
n.665T>G
Xg.111401270A>GCA414246399DCXc.425T>C (p.Val142Ala)
c.668T>C (p.Val223Ala)
c.643T>C
n.665T>C
Xg.111401270A>TCA414246400DCXc.425T>A (p.Val142Asp)
c.668T>A (p.Val223Asp)
c.643T>A
n.665T>A
Xg.111401271C>ACA414246402DCXc.424G>T (p.Val142Phe)
c.667G>T (p.Val223Phe)
c.642G>T
n.664G>T
Xg.111401271C=CA2451697271DCXc.424G= (p.Val142=)
c.667G= (p.Val223=)
c.642G=
n.664G=
Xg.111401271C>GCA414246401DCXc.424G>C (p.Val142Leu)
c.667G>C (p.Val223Leu)
c.642G>C
n.664G>C
Xg.111401271C>TCA334420248DCXc.424G>A (p.Val142Ile)
c.667G>A (p.Val223Ile)
c.642G>A
n.664G>A
 dbSNP
Xg.111401272A>CCA414246403DCXc.423T>G (p.Asn141Lys)
c.666T>G (p.Asn222Lys)
c.641T>G
n.663T>G
Xg.111401272A>GCA518114250DCXc.423T>C (p.Asn141=)
c.666T>C (p.Asn222=)
c.641T>C
n.663T>C
 gnomAD v3 gnomAD v4
Xg.111401272A>TCA414246404DCXc.423T>A (p.Asn141Lys)
c.666T>A (p.Asn222Lys)
c.641T>A
n.663T>A
Xg.111401273T>ACA414246405DCXc.422A>T (p.Asn141Ile)
c.665A>T (p.Asn222Ile)
c.640A>T
n.662A>T
Xg.111401273T>CCA414246406DCXc.422A>G (p.Asn141Ser)
c.665A>G (p.Asn222Ser)
c.640A>G
n.662A>G
Xg.111401273T>GCA414246407DCXc.422A>C (p.Asn141Thr)
c.665A>C (p.Asn222Thr)
c.640A>C
n.662A>C
Xg.111401274T>ACA414246408DCXc.421A>T (p.Asn141Tyr)
c.664A>T (p.Asn222Tyr)
c.639A>T
n.661A>T
Xg.111401274T>CCA414246409DCXc.421A>G (p.Asn141Asp)
c.664A>G (p.Asn222Asp)
c.639A>G
n.661A>G
 ClinVar dbSNP
Xg.111401274T>GCA414246410DCXc.421A>C (p.Asn141His)
c.664A>C (p.Asn222His)
c.639A>C
n.661A>C
Xg.111401275C>ACA414246411DCXc.420G>T (p.Lys140Asn)
c.663G>T (p.Lys221Asn)
c.638G>T
n.660G>T
Xg.111401275C>GCA414246412DCXc.420G>C (p.Lys140Asn)
c.663G>C (p.Lys221Asn)
c.638G>C
n.660G>C
Xg.111401275C>TCA518114253DCXc.420G>A (p.Lys140=)
c.663G>A (p.Lys221=)
c.638G>A
n.660G>A
Xg.111401276T>ACA414246413DCXc.419A>T (p.Lys140Met)
c.662A>T (p.Lys221Met)
c.637A>T
n.659A>T
Xg.111401276T>CCA414246414DCXc.419A>G (p.Lys140Arg)
c.662A>G (p.Lys221Arg)
c.637A>G
n.659A>G
Xg.111401276T>GCA414246415DCXc.419A>C (p.Lys140Thr)
c.662A>C (p.Lys221Thr)
c.637A>C
n.659A>C
Xg.111401277T>ACA414246418DCXc.418A>T (p.Lys140Ter)
c.661A>T (p.Lys221Ter)
c.636A>T
n.658A>T
Xg.111401277T>CCA414246416DCXc.418A>G (p.Lys140Glu)
c.661A>G (p.Lys221Glu)
c.636A>G
n.658A>G
Xg.111401277T>GCA414246417DCXc.418A>C (p.Lys140Gln)
c.661A>C (p.Lys221Gln)
c.636A>C
n.658A>C
Xg.111401278G>ACA518114254DCXc.417C>T (p.Thr139=)
c.660C>T (p.Thr220=)
c.635C>T
n.657C>T
 gnomAD v4
Xg.111401278G>CCA518114255DCXc.417C>G (p.Thr139=)
c.660C>G (p.Thr220=)
c.635C>G
n.657C>G
Xg.111401278G>TCA518114256DCXc.417C>A (p.Thr139=)
c.660C>A (p.Thr220=)
c.635C>A
n.657C>A
Xg.111401279G>ACA414246419DCXc.416C>T (p.Thr139Ile)
c.659C>T (p.Thr220Ile)
c.634C>T
n.656C>T
 COSMIC COSMIC
Xg.111401279G>CCA414246420DCXc.416C>G (p.Thr139Ser)
c.659C>G (p.Thr220Ser)
c.634C>G
n.656C>G
Xg.111401279G>TCA414246421DCXc.416C>A (p.Thr139Asn)
c.659C>A (p.Thr220Asn)
c.634C>A
n.656C>A
Xg.111401280T>ACA414246422DCXc.415A>T (p.Thr139Ser)
c.658A>T (p.Thr220Ser)
c.633A>T
n.655A>T
Xg.111401280T>CCA414246423DCXc.415A>G (p.Thr139Ala)
c.658A>G (p.Thr220Ala)
c.633A>G
n.655A>G
Xg.111401280T>GCA414246424DCXc.415A>C (p.Thr139Pro)
c.658A>C (p.Thr220Pro)
c.633A>C
n.655A>C
Xg.111401280_111401281insCCA2573159135DCXc.414_415insG (p.Thr139AspfsTer26)
c.657_658insG (p.Thr220AspfsTer26)
c.632_633insG
n.654_655insG
 ClinVar dbSNP
Xg.111401281G>ACA10493324DCXc.414C>T (p.Tyr138=)
c.657C>T (p.Tyr219=)
c.632C>T
n.654C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111401281G>CCA414246425DCXc.414C>G (p.Tyr138Ter)
c.657C>G (p.Tyr219Ter)
c.632C>G
n.654C>G
Xg.111401281G=CA2451697272DCXc.414C= (p.Tyr138=)
c.657C= (p.Tyr219=)
c.632C=
n.654C=
Xg.111401281G>TCA414246426DCXc.414C>A (p.Tyr138Ter)
c.657C>A (p.Tyr219Ter)
c.632C>A
n.654C>A
Xg.111401282T>ACA414246427DCXc.413A>T (p.Tyr138Phe)
c.656A>T (p.Tyr219Phe)
c.631A>T
n.653A>T
Xg.111401282T>CCA171960DCXc.413A>G (p.Tyr138Cys)
c.656A>G (p.Tyr219Cys)
c.631A>G
n.653A>G
 ClinVar dbSNP
Xg.111401282T>GCA414246428DCXc.413A>C (p.Tyr138Ser)
c.656A>C (p.Tyr219Ser)
c.631A>C
n.653A>C
Xg.111401282T=CA2451697273DCXc.413A= (p.Tyr138=)
c.656A= (p.Tyr219=)
c.631A=
n.653A=
Xg.111401283A=CA2451697274DCXc.412T= (p.Tyr138=)
c.655T= (p.Tyr219=)
c.630T=
n.652T=
Xg.111401283A>CCA414246430DCXc.412T>G (p.Tyr138Asp)
c.655T>G (p.Tyr219Asp)
c.630T>G
n.652T>G
Xg.111401283A>GCA171957DCXc.412T>C (p.Tyr138His)
c.655T>C (p.Tyr219His)
c.630T>C
n.652T>C
 ClinVar dbSNP
Xg.111401283A>TCA414246429DCXc.412T>A (p.Tyr138Asn)
c.655T>A (p.Tyr219Asn)
c.630T>A
n.652T>A
Xg.111401284C>ACA414246431DCXc.411G>T (p.Glu137Asp)
c.654G>T (p.Glu218Asp)
c.629G>T
n.651G>T
Xg.111401284C=CA2451697275DCXc.411G= (p.Glu137=)
c.654G= (p.Glu218=)
c.629G=
n.651G=
Xg.111401284C>GCA414246432DCXc.411G>C (p.Glu137Asp)
c.654G>C (p.Glu218Asp)
c.629G>C
n.651G>C
Xg.111401284C>TCA518114257DCXc.411G>A (p.Glu137=)
c.654G>A (p.Glu218=)
c.629G>A
n.651G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.111401285T>ACA414246433DCXc.410A>T (p.Glu137Val)
c.653A>T (p.Glu218Val)
c.628A>T
n.650A>T
Xg.111401285T>CCA414246435DCXc.410A>G (p.Glu137Gly)
c.653A>G (p.Glu218Gly)
c.628A>G
n.650A>G
Xg.111401285T>GCA414246434DCXc.410A>C (p.Glu137Ala)
c.653A>C (p.Glu218Ala)
c.628A>C
n.650A>C
Xg.111401286C>ACA171954DCXc.409G>T (p.Glu137Ter)
c.652G>T (p.Glu218Ter)
c.627G>T
n.649G>T
 ClinVar dbSNP COSMIC COSMIC
Xg.111401286C=CA2451697276DCXc.409G= (p.Glu137=)
c.652G= (p.Glu218=)
c.627G=
n.649G=
Xg.111401286C>GCA414246436DCXc.409G>C (p.Glu137Gln)
c.652G>C (p.Glu218Gln)
c.627G>C
n.649G>C
Xg.111401286C>TCA414246437DCXc.409G>A (p.Glu137Lys)
c.652G>A (p.Glu218Lys)
c.627G>A
n.649G>A
Xg.111401287C>ACA518114258DCXc.408G>T (p.Val136=)
c.651G>T (p.Val217=)
c.626G>T
n.648G>T
Xg.111401287C>GCA518114259DCXc.408G>C (p.Val136=)
c.651G>C (p.Val217=)
c.626G>C
n.648G>C
Xg.111401287C>TCA518114260DCXc.408G>A (p.Val136=)
c.651G>A (p.Val217=)
c.626G>A
n.648G>A
 gnomAD v4
Xg.111401288A>CCA414246438DCXc.407T>G (p.Val136Gly)
c.650T>G (p.Val217Gly)
c.625T>G
n.647T>G
Xg.111401288A>GCA414246439DCXc.407T>C (p.Val136Ala)
c.650T>C (p.Val217Ala)
c.625T>C
n.647T>C
Xg.111401288A>TCA414246440DCXc.407T>A (p.Val136Glu)
c.650T>A (p.Val217Glu)
c.625T>A
n.647T>A
Xg.111401289C>ACA414246441DCXc.406G>T (p.Val136Leu)
c.649G>T (p.Val217Leu)
c.624G>T
n.646G>T
Xg.111401289C=CA2451697277DCXc.406G= (p.Val136=)
c.649G= (p.Val217=)
c.624G=
n.646G=
Xg.111401289C>GCA10493325DCXc.406G>C (p.Val136Leu)
c.649G>C (p.Val217Leu)
c.624G>C
n.646G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.111401289C>TCA414246442DCXc.406G>A (p.Val136Met)
c.649G>A (p.Val217Met)
c.624G>A
n.646G>A
Xg.111401290C>ACA414246443DCXc.405G>T (p.Lys135Asn)
c.648G>T (p.Lys216Asn)
c.623G>T
n.645G>T
Xg.111401290C>GCA414246444DCXc.405G>C (p.Lys135Asn)
c.648G>C (p.Lys216Asn)
c.623G>C
n.645G>C
Xg.111401290C>TCA518114261DCXc.405G>A (p.Lys135=)
c.648G>A (p.Lys216=)
c.623G>A
n.645G>A
Xg.111401291T>ACA414246447DCXc.404A>T (p.Lys135Met)
c.647A>T (p.Lys216Met)
c.622A>T
n.644A>T
Xg.111401291T>CCA414246445DCXc.404A>G (p.Lys135Arg)
c.647A>G (p.Lys216Arg)
c.622A>G
n.644A>G
Xg.111401291T>GCA414246446DCXc.404A>C (p.Lys135Thr)
c.647A>C (p.Lys216Thr)
c.622A>C
n.644A>C
Xg.111401295delCA518114262DCXc.404del (p.Lys135ArgfsTer16)
c.647del (p.Lys216ArgfsTer16)
c.622del
n.644del
 COSMIC COSMIC
Xg.111401294_111401295delCA2695235806DCXc.403_404del (p.Lys135GlyfsTer29)
c.646_647del (p.Lys216GlyfsTer29)
c.621_622del
n.643_644del
Xg.111401292T>ACA414246448DCXc.403A>T (p.Lys135Ter)
c.646A>T (p.Lys216Ter)
c.621A>T
n.643A>T
Xg.111401292T>CCA414246449DCXc.403A>G (p.Lys135Glu)
c.646A>G (p.Lys216Glu)
c.621A>G
n.643A>G
Xg.111401292T>GCA414246450DCXc.403A>C (p.Lys135Gln)
c.646A>C (p.Lys216Gln)
c.621A>C
n.643A>C
Xg.111401293T>ACA334420249DCXc.402A>T (p.Lys134Asn)
c.645A>T (p.Lys215Asn)
c.620A>T
n.642A>T
 dbSNP
Xg.111401293T>CCA518114263DCXc.402A>G (p.Lys134=)
c.645A>G (p.Lys215=)
c.620A>G
n.642A>G
Xg.111401293T>GCA414246451DCXc.402A>C (p.Lys134Asn)
c.645A>C (p.Lys215Asn)
c.620A>C
n.642A>C
Xg.111401293T=CA2451697278DCXc.402A= (p.Lys134=)
c.645A= (p.Lys215=)
c.620A=
n.642A=
Xg.111401294T>ACA414246452DCXc.401A>T (p.Lys134Ile)
c.644A>T (p.Lys215Ile)
c.619A>T
n.641A>T
Xg.111401294T>CCA414246453DCXc.401A>G (p.Lys134Arg)
c.644A>G (p.Lys215Arg)
c.619A>G
n.641A>G
Xg.111401294T>GCA414246454DCXc.401A>C (p.Lys134Thr)
c.644A>C (p.Lys215Thr)
c.619A>C
n.641A>C
Xg.111401295T>ACA414246455DCXc.400A>T (p.Lys134Ter)
c.643A>T (p.Lys215Ter)
c.618A>T
n.640A>T
Xg.111401295T>CCA414246456DCXc.400A>G (p.Lys134Glu)
c.643A>G (p.Lys215Glu)
c.618A>G
n.640A>G
Xg.111401295T>GCA414246457DCXc.400A>C (p.Lys134Gln)
c.643A>C (p.Lys215Gln)
c.618A>C
n.640A>C
Xg.111401296A>CCA414246459DCXc.399T>G (p.Phe133Leu)
c.642T>G (p.Phe214Leu)
c.617T>G
n.639T>G
Xg.111401296A>GCA518114264DCXc.399T>C (p.Phe133=)
c.642T>C (p.Phe214=)
c.617T>C
n.639T>C
Xg.111401296A>TCA414246458DCXc.399T>A (p.Phe133Leu)
c.642T>A (p.Phe214Leu)
c.617T>A
n.639T>A
Xg.111401297A>CCA414246460DCXc.398T>G (p.Phe133Cys)
c.641T>G (p.Phe214Cys)
c.616T>G
n.638T>G
Xg.111401297A>GCA414246461DCXc.398T>C (p.Phe133Ser)
c.641T>C (p.Phe214Ser)
c.616T>C
n.638T>C
Xg.111401297A>TCA414246462DCXc.398T>A (p.Phe133Tyr)
c.641T>A (p.Phe214Tyr)
c.616T>A
n.638T>A
Xg.111401298A>CCA414246463DCXc.397T>G (p.Phe133Val)
c.640T>G (p.Phe214Val)
c.615T>G
n.637T>G
Xg.111401298A>GCA414246464DCXc.397T>C (p.Phe133Leu)
c.640T>C (p.Phe214Leu)
c.615T>C
n.637T>C
Xg.111401298A>TCA414246465DCXc.397T>A (p.Phe133Ile)
c.640T>A (p.Phe214Ile)
c.615T>A
n.637T>A
Xg.111401299G>ACA518114265DCXc.396C>T (p.Phe132=)
c.639C>T (p.Phe213=)
c.614C>T
n.636C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.111401299G>CCA414246467DCXc.396C>G (p.Phe132Leu)
c.639C>G (p.Phe213Leu)
c.614C>G
n.636C>G
Xg.111401299G=CA2451697279DCXc.396C= (p.Phe132=)
c.639C= (p.Phe213=)
c.614C=
n.636C=
Xg.111401299G>TCA414246466DCXc.396C>A (p.Phe132Leu)
c.639C>A (p.Phe213Leu)
c.614C>A
n.636C>A
 COSMIC COSMIC
Xg.111401300A>CCA414246468DCXc.395T>G (p.Phe132Cys)
c.638T>G (p.Phe213Cys)
c.613T>G
n.635T>G
Xg.111401300A>GCA414246469DCXc.395T>C (p.Phe132Ser)
c.638T>C (p.Phe213Ser)
c.613T>C
n.635T>C
Xg.111401300A>TCA414246470DCXc.395T>A (p.Phe132Tyr)
c.638T>A (p.Phe213Tyr)
c.613T>A
n.635T>A
Xg.111401301A>CCA414246471DCXc.394T>G (p.Phe132Val)
c.637T>G (p.Phe213Val)
c.612T>G
n.634T>G
Xg.111401301A>GCA414246472DCXc.394T>C (p.Phe132Leu)
c.637T>C (p.Phe213Leu)
c.612T>C
n.634T>C
Xg.111401301A>TCA414246473DCXc.394T>A (p.Phe132Ile)
c.637T>A (p.Phe213Ile)
c.612T>A
n.634T>A
Xg.111401301_111401304delinsAGTTCA2451697280DCXc.391_394delinsAACT (p.Asn131=)
c.634_637delinsAACT (p.Asn212=)
c.609_612delinsAACT
n.631_634delinsAACT
Xg.111401302G>ACA334420250DCXc.393C>T (p.Asn131=)
c.636C>T (p.Asn212=)
c.611C>T
n.633C>T
 dbSNP
Xg.111401302G>CCA414246474DCXc.393C>G (p.Asn131Lys)
c.636C>G (p.Asn212Lys)
c.611C>G
n.633C>G
Xg.111401302G=CA2451697281DCXc.393C= (p.Asn131=)
c.636C= (p.Asn212=)
c.611C=
n.633C=
Xg.111401302G>TCA414246475DCXc.393C>A (p.Asn131Lys)
c.636C>A (p.Asn212Lys)
c.611C>A
n.633C>A
Xg.111401304_111401306delCA171951DCXc.391_393del (p.Asn131del)
c.634_636del (p.Asn212del)
c.609_611del
n.631_633del
 ClinVar dbSNP
Xg.111401303T>ACA414246476DCXc.392A>T (p.Asn131Ile)
c.635A>T (p.Asn212Ile)
c.610A>T
n.632A>T
Xg.111401303T>CCA414246477DCXc.392A>G (p.Asn131Ser)
c.635A>G (p.Asn212Ser)
c.610A>G
n.632A>G
 gnomAD v4
Xg.111401303T>GCA414246478DCXc.392A>C (p.Asn131Thr)
c.635A>C (p.Asn212Thr)
c.610A>C
n.632A>C
Xg.111401304T>ACA414246479DCXc.391A>T (p.Asn131Tyr)
c.634A>T (p.Asn212Tyr)
c.609A>T
n.631A>T
Xg.111401304T>CCA414246480DCXc.391A>G (p.Asn131Asp)
c.634A>G (p.Asn212Asp)
c.609A>G
n.631A>G
Xg.111401304T>GCA414246481DCXc.391A>C (p.Asn131His)
c.634A>C (p.Asn212His)
c.609A>C
n.631A>C
Xg.111401305G>ACA518114266DCXc.390C>T (p.Asp130=)
c.633C>T (p.Asp211=)
c.608C>T
n.630C>T
Xg.111401305G>CCA414246482DCXc.390C>G (p.Asp130Glu)
c.633C>G (p.Asp211Glu)
c.608C>G
n.630C>G
Xg.111401305G>TCA414246483DCXc.390C>A (p.Asp130Glu)
c.633C>A (p.Asp211Glu)
c.608C>A
n.630C>A
Xg.111401306T>ACA414246484DCXc.389A>T (p.Asp130Val)
c.632A>T (p.Asp211Val)
c.607A>T
n.629A>T
Xg.111401306T>CCA16621178DCXc.389A>G (p.Asp130Gly)
c.632A>G (p.Asp211Gly)
c.607A>G
n.629A>G
 ClinVar dbSNP gnomAD v4 COSMIC
Xg.111401306T>GCA414246485DCXc.389A>C (p.Asp130Ala)
c.632A>C (p.Asp211Ala)
c.607A>C
n.629A>C
Xg.111401306T=CA2451697282DCXc.389A= (p.Asp130=)
c.632A= (p.Asp211=)
c.607A=
n.629A=
Xg.111401307C>ACA414246487DCXc.388G>T (p.Asp130Tyr)
c.631G>T (p.Asp211Tyr)
c.606G>T
n.628G>T
Xg.111401307C>GCA414246488DCXc.388G>C (p.Asp130His)
c.631G>C (p.Asp211His)
c.606G>C
n.628G>C
Xg.111401307C>TCA414246486DCXc.388G>A (p.Asp130Asn)
c.631G>A (p.Asp211Asn)
c.606G>A
n.628G>A
Xg.111401308T>ACA518114267DCXc.387A>T (p.Ser129=)
c.630A>T (p.Ser210=)
c.605A>T
n.627A>T
 COSMIC
Xg.111401308T>CCA518114268DCXc.387A>G (p.Ser129=)
c.630A>G (p.Ser210=)
c.605A>G
n.627A>G
Xg.111401308T>GCA518114269DCXc.387A>C (p.Ser129=)
c.630A>C (p.Ser210=)
c.605A>C
n.627A>C
Xg.111401309G>ACA171948DCXc.386C>T (p.Ser129Leu)
c.629C>T (p.Ser210Leu)
c.604C>T
n.626C>T
 ClinVar dbSNP
Xg.111401309G>CCA414246489DCXc.386C>G (p.Ser129Ter)
c.629C>G (p.Ser210Ter)
c.604C>G
n.626C>G
Xg.111401309G=CA2451697283DCXc.386C= (p.Ser129=)
c.629C= (p.Ser210=)
c.604C=
n.626C=
Xg.111401309G>TCA414246490DCXc.386C>A (p.Ser129Ter)
c.629C>A (p.Ser210Ter)
c.604C>A
n.626C>A
Xg.111401310A>CCA414246491DCXc.385T>G (p.Ser129Ala)
c.628T>G (p.Ser210Ala)
c.603T>G
n.625T>G
Xg.111401310A>GCA414246492DCXc.385T>C (p.Ser129Pro)
c.628T>C (p.Ser210Pro)
c.603T>C
n.625T>C
 COSMIC COSMIC
Xg.111401310A>TCA414246493DCXc.385T>A (p.Ser129Thr)
c.628T>A (p.Ser210Thr)
c.603T>A
n.625T>A
Xg.111401311G>ACA518114270DCXc.384C>T (p.Ser128=)
c.627C>T (p.Ser209=)
c.602C>T
n.624C>T
 COSMIC COSMIC
Xg.111401311G>CCA518114271DCXc.384C>G (p.Ser128=)
c.627C>G (p.Ser209=)
c.602C>G
n.624C>G
 dbSNP gnomAD v4
Xg.111401311G=CA2451697284DCXc.384C= (p.Ser128=)
c.627C= (p.Ser209=)
c.602C=
n.624C=
Xg.111401311G>TCA518114272DCXc.384C>A (p.Ser128=)
c.627C>A (p.Ser209=)
c.602C>A
n.624C>A
Xg.111401312G>ACA414246494DCXc.383C>T (p.Ser128Phe)
c.626C>T (p.Ser209Phe)
c.601C>T
n.623C>T
 ClinVar
Xg.111401312G>CCA414246495DCXc.383C>G (p.Ser128Cys)
c.626C>G (p.Ser209Cys)
c.601C>G
n.623C>G
Xg.111401312G>TCA414246496DCXc.383C>A (p.Ser128Tyr)
c.626C>A (p.Ser209Tyr)
c.601C>A
n.623C>A
Xg.111401313A>CCA414246497DCXc.382T>G (p.Ser128Ala)
c.625T>G (p.Ser209Ala)
c.600T>G
n.622T>G
Xg.111401313A>GCA414246498DCXc.382T>C (p.Ser128Pro)
c.625T>C (p.Ser209Pro)
c.600T>C
n.622T>C
Xg.111401313A>TCA414246499DCXc.382T>A (p.Ser128Thr)
c.625T>A (p.Ser209Thr)
c.600T>A
n.622T>A
Xg.111401314A>CCA414246500DCXc.381T>G (p.Cys127Trp)
c.624T>G (p.Cys208Trp)
c.599T>G
n.621T>G
Xg.111401314A>GCA518114273DCXc.381T>C (p.Cys127=)
c.624T>C (p.Cys208=)
c.599T>C
n.621T>C
Xg.111401314A>TCA414246501DCXc.381T>A (p.Cys127Ter)
c.624T>A (p.Cys208Ter)
c.599T>A
n.621T>A
Xg.111401315C>ACA414246502DCXc.380G>T (p.Cys127Phe)
c.623G>T (p.Cys208Phe)
c.598G>T
n.620G>T
Xg.111401315C=CA2451697285DCXc.380G= (p.Cys127=)
c.623G= (p.Cys208=)
c.598G=
n.620G=
Xg.111401315C>GCA414246503DCXc.380G>C (p.Cys127Ser)
c.623G>C (p.Cys208Ser)
c.598G>C
n.620G>C
Xg.111401315C>TCA171945DCXc.380G>A (p.Cys127Tyr)
c.623G>A (p.Cys208Tyr)
c.598G>A
n.620G>A
 ClinVar dbSNP
Xg.111401316A>CCA414246504DCXc.379T>G (p.Cys127Gly)
c.622T>G (p.Cys208Gly)
c.597T>G
n.619T>G
Xg.111401316A>GCA414246505DCXc.379T>C (p.Cys127Arg)
c.622T>C (p.Cys208Arg)
c.597T>C
n.619T>C
Xg.111401316A>TCA414246506DCXc.379T>A (p.Cys127Ser)
c.622T>A (p.Cys208Ser)
c.597T>A
n.619T>A
Xg.111401317G>ACA518114274DCXc.378C>T (p.Val126=)
c.621C>T (p.Val207=)
c.596C>T
n.618C>T
Xg.111401317G>CCA518114275DCXc.378C>G (p.Val126=)
c.621C>G (p.Val207=)
c.596C>G
n.618C>G
Xg.111401317G=CA2451697286DCXc.378C= (p.Val126=)
c.621C= (p.Val207=)
c.596C=
n.618C=
Xg.111401317G>TCA518114276DCXc.378C>A (p.Val126=)
c.621C>A (p.Val207=)
c.596C>A
n.618C>A
 dbSNP gnomAD v2 gnomAD v4
Xg.111401318A=CA2451697287DCXc.377T= (p.Val126=)
c.620T= (p.Val207=)
c.595T=
n.617T=
Xg.111401318A>CCA414246507DCXc.377T>G (p.Val126Gly)
c.620T>G (p.Val207Gly)
c.595T>G
n.617T>G
Xg.111401318A>GCA414246508DCXc.377T>C (p.Val126Ala)
c.620T>C (p.Val207Ala)
c.595T>C
n.617T>C
Xg.111401318A>TCA171942DCXc.377T>A (p.Val126Asp)
c.620T>A (p.Val207Asp)
c.595T>A
n.617T>A
 ClinVar dbSNP
Xg.111401319C>ACA414246509DCXc.376G>T (p.Val126Phe)
c.619G>T (p.Val207Phe)
c.594G>T
n.616G>T
Xg.111401319C>GCA414246510DCXc.376G>C (p.Val126Leu)
c.619G>C (p.Val207Leu)
c.594G>C
n.616G>C
Xg.111401319C>TCA414246511DCXc.376G>A (p.Val126Ile)
c.619G>A (p.Val207Ile)
c.594G>A
n.616G>A
Xg.111401320A>CCA414246512DCXc.375T>G (p.Tyr125Ter)
c.618T>G (p.Tyr206Ter)
c.593T>G
n.615T>G
Xg.111401320A>GCA518114277DCXc.375T>C (p.Tyr125=)
c.618T>C (p.Tyr206=)
c.593T>C
n.615T>C
Xg.111401320A>TCA414246513DCXc.375T>A (p.Tyr125Ter)
c.618T>A (p.Tyr206Ter)
c.593T>A
n.615T>A
Xg.111401321T>ACA414246515DCXc.374A>T (p.Tyr125Phe)
c.617A>T (p.Tyr206Phe)
c.592A>T
n.614A>T
 COSMIC COSMIC
Xg.111401321T>CCA414246516DCXc.374A>G (p.Tyr125Cys)
c.617A>G (p.Tyr206Cys)
c.592A>G
n.614A>G
Xg.111401321T>GCA414246514DCXc.374A>C (p.Tyr125Ser)
c.617A>C (p.Tyr206Ser)
c.592A>C
n.614A>C
 COSMIC COSMIC
Xg.111401322A=CA2451697288DCXc.373T= (p.Tyr125=)
c.616T= (p.Tyr206=)
c.591T=
n.613T=
Xg.111401322A>CCA414246517DCXc.373T>G (p.Tyr125Asp)
c.616T>G (p.Tyr206Asp)
c.591T>G
n.613T>G
Xg.111401322A>GCA121594DCXc.373T>C (p.Tyr125His)
c.616T>C (p.Tyr206His)
c.591T>C
n.613T>C
 ClinVar dbSNP
Xg.111401322A>TCA414246518DCXc.373T>A (p.Tyr125Asn)
c.616T>A (p.Tyr206Asn)
c.591T>A
n.613T>A

Number of alleles fetched