Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched