Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.31524441_31524445delCA049698DSG2n.522-7_522-3del
c.522-7_522-3del
c.691-7_691-3del (n.691-7_691-3del)
c.157-7_157-3del (n.157-7_157-3del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524445C>TCA2641406208DSG2n.522-3C>T
c.522-3C>T
c.691-3C>T (n.691-3C>T)
c.157-3C>T (n.157-3C>T)
 gnomAD v4
18g.31524446A>CCA402134820DSG2n.522-2A>C
c.522-2A>C
c.691-2A>C (n.691-2A>C)
c.157-2A>C (n.157-2A>C)
18g.31524446A>GCA402134821DSG2n.522-2A>G
c.522-2A>G
c.691-2A>G (n.691-2A>G)
c.157-2A>G (n.157-2A>G)
 COSMIC
18g.31524446A>TCA402134822DSG2n.522-2A>T
c.522-2A>T
c.691-2A>T (n.691-2A>T)
c.157-2A>T (n.157-2A>T)
18g.31524447G>ACA402134823DSG2n.522-1G>A
c.522-1G>A
c.691-1G>A (n.691-1G>A)
c.157-1G>A (n.157-1G>A)
 ClinVar dbSNP
18g.31524447G>CCA402134824DSG2n.522-1G>C
c.522-1G>C
c.691-1G>C (n.691-1G>C)
c.157-1G>C (n.157-1G>C)
18g.31524447G=CA2293856949DSG2n.522-1G=
c.522-1G=
c.691-1G= (n.691-1G=)
c.157-1G= (n.157-1G=)
18g.31524447G>TCA402134825DSG2n.522-1G>T
c.522-1G>T
c.691-1G>T (n.691-1G>T)
c.157-1G>T (n.157-1G>T)
18g.31524448G>ACA402134826DSG2n.522G>A
c.522G>A
c.691G>A (p.Glu231Lys)
c.157G>A (p.Glu53Lys)
 COSMIC
18g.31524448G>CCA402134827DSG2n.522G>C
c.522G>C
c.691G>C (p.Glu231Gln)
c.157G>C (p.Glu53Gln)
18g.31524448G>TCA402134828DSG2n.522G>T
c.522G>T
c.691G>T (p.Glu231Ter)
c.157G>T (p.Glu53Ter)
 gnomAD v4
18g.31524449A>CCA402134829DSG2n.523A>C
c.523A>C
c.692A>C (p.Glu231Ala)
c.158A>C (p.Glu53Ala)
18g.31524449A>GCA402134830DSG2n.523A>G
c.523A>G
c.692A>G (p.Glu231Gly)
c.158A>G (p.Glu53Gly)
18g.31524449A>TCA402134831DSG2n.523A>T
c.523A>T
c.692A>T (p.Glu231Val)
c.158A>T (p.Glu53Val)
18g.31524450A=CA2293856951DSG2n.524A=
c.524A=
c.693A= (p.Glu231=)
c.159A= (p.Glu53=)
18g.31524450A>CCA402134832DSG2n.524A>C
c.524A>C
c.693A>C (p.Glu231Asp)
c.159A>C (p.Glu53Asp)
18g.31524450A>GCA049765DSG2n.524A>G
c.524A>G
c.693A>G (p.Glu231=)
c.159A>G (p.Glu53=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524450A>TCA402134833DSG2n.524A>T
c.524A>T
c.693A>T (p.Glu231Asp)
c.159A>T (p.Glu53Asp)
18g.31524451C>ACA402134834DSG2n.525C>A
c.525C>A
c.694C>A (p.His232Asn)
c.160C>A (p.His54Asn)
18g.31524451C=CA2293856953DSG2n.525C=
c.525C=
c.694C= (p.His232=)
c.160C= (p.His54=)
18g.31524451C>GCA402134835DSG2n.525C>G
c.525C>G
c.694C>G (p.His232Asp)
c.160C>G (p.His54Asp)
18g.31524451C>TCA402134836DSG2n.525C>T
c.525C>T
c.694C>T (p.His232Tyr)
c.160C>T (p.His54Tyr)
 dbSNP gnomAD v4
18g.31524452A>CCA402134837DSG2n.526A>C
c.526A>C
c.695A>C (p.His232Pro)
c.161A>C (p.His54Pro)
18g.31524452A>GCA402134838DSG2n.526A>G
c.526A>G
c.695A>G (p.His232Arg)
c.161A>G (p.His54Arg)
18g.31524452A>TCA402134839DSG2n.526A>T
c.526A>T
c.695A>T (p.His232Leu)
c.161A>T (p.His54Leu)
18g.31524453C>ACA402134840DSG2n.527C>A
c.527C>A
c.696C>A (p.His232Gln)
c.162C>A (p.His54Gln)
18g.31524453C=CA2293856955DSG2n.527C=
c.527C=
c.696C= (p.His232=)
c.162C= (p.His54=)
18g.31524453C>GCA402134841DSG2n.527C>G
c.527C>G
c.696C>G (p.His232Gln)
c.162C>G (p.His54Gln)
18g.31524453C>TCA503598864DSG2n.527C>T
c.527C>T
c.696C>T (p.His232=)
c.162C>T (p.His54=)
 ClinVar dbSNP gnomAD v4
18g.31524454A=CA2293856957DSG2n.528A=
c.528A=
c.697A= (p.Ser233=)
c.163A= (p.Ser55=)
18g.31524454A>CCA402134842DSG2n.528A>C
c.528A>C
c.697A>C (p.Ser233Arg)
c.163A>C (p.Ser55Arg)
 ClinVar dbSNP
18g.31524454A>GCA402134843DSG2n.528A>G
c.528A>G
c.697A>G (p.Ser233Gly)
c.163A>G (p.Ser55Gly)
 ClinVar dbSNP
18g.31524454A>TCA402134844DSG2n.528A>T
c.528A>T
c.697A>T (p.Ser233Cys)
c.163A>T (p.Ser55Cys)
18g.31524455G>ACA402134847DSG2n.529G>A
c.529G>A
c.698G>A (p.Ser233Asn)
c.164G>A (p.Ser55Asn)
18g.31524455G>CCA402134846DSG2n.529G>C
c.529G>C
c.698G>C (p.Ser233Thr)
c.164G>C (p.Ser55Thr)
18g.31524455G>TCA402134845DSG2n.529G>T
c.529G>T
c.698G>T (p.Ser233Ile)
c.164G>T (p.Ser55Ile)
18g.31524455_31524459delinsGCAGCCA2293856959DSG2n.529_533delinsGCAGC
c.529_533delinsGCAGC
c.698_702delinsGCAGC (p.Ser233=)
c.164_168delinsGCAGC (p.Ser55=)
18g.31524455_31524456insTATATTTTATTTACA2517729988DSG2n.529_530insTATATTTTATTTA
c.529_530insTATATTTTATTTA
c.698_699insTATATTTTATTTA (p.Ser234IlefsTer?)
c.164_165insTATATTTTATTTA (p.Ser56IlefsTer?)
18g.31524456C>ACA402134848DSG2n.530C>A
c.530C>A
c.699C>A (p.Ser233Arg)
c.165C>A (p.Ser55Arg)
18g.31524456C>GCA402134849DSG2n.530C>G
c.530C>G
c.699C>G (p.Ser233Arg)
c.165C>G (p.Ser55Arg)
18g.31524456C>TCA503598876DSG2n.530C>T
c.530C>T
c.699C>T (p.Ser233=)
c.165C>T (p.Ser55=)
18g.31524456_31524459delCA2293856960DSG2n.530_533del
c.530_533del
c.699_702del (p.Ser234ThrfsTer3)
c.165_168del (p.Ser56ThrfsTer3)
 dbSNP
18g.31524457A>CCA402134850DSG2n.531A>C
c.531A>C
c.700A>C (p.Ser234Arg)
c.166A>C (p.Ser56Arg)
18g.31524457A>GCA402134851DSG2n.531A>G
c.531A>G
c.700A>G (p.Ser234Gly)
c.166A>G (p.Ser56Gly)
 gnomAD v4
18g.31524457A>TCA402134852DSG2n.531A>T
c.531A>T
c.700A>T (p.Ser234Cys)
c.166A>T (p.Ser56Cys)
18g.31524457_31524458insAATCTCA2515467348DSG2n.531_532insAATCT
c.531_532insAATCT
c.700_701insAATCT (p.Ser234LysfsTer6)
c.166_167insAATCT (p.Ser56LysfsTer6)
18g.31524458G>ACA402134853DSG2n.532G>A
c.532G>A
c.701G>A (p.Ser234Asn)
c.167G>A (p.Ser56Asn)
18g.31524458G>CCA402134854DSG2n.532G>C
c.532G>C
c.701G>C (p.Ser234Thr)
c.167G>C (p.Ser56Thr)
18g.31524458G>TCA402134855DSG2n.532G>T
c.532G>T
c.701G>T (p.Ser234Ile)
c.167G>T (p.Ser56Ile)
18g.31524459C>ACA402134856DSG2n.533C>A
c.533C>A
c.702C>A (p.Ser234Arg)
c.168C>A (p.Ser56Arg)
18g.31524459C>GCA402134857DSG2n.533C>G
c.533C>G
c.702C>G (p.Ser234Arg)
c.168C>G (p.Ser56Arg)
18g.31524459C>TCA503598880DSG2n.533C>T
c.533C>T
c.702C>T (p.Ser234=)
c.168C>T (p.Ser56=)
18g.31524460T>ACA402134858DSG2n.534T>A
c.534T>A
c.703T>A (p.Tyr235Asn)
c.169T>A (p.Tyr57Asn)
18g.31524460T>CCA402134859DSG2n.534T>C
c.534T>C
c.703T>C (p.Tyr235His)
c.169T>C (p.Tyr57His)
18g.31524460T>GCA402134860DSG2n.534T>G
c.534T>G
c.703T>G (p.Tyr235Asp)
c.169T>G (p.Tyr57Asp)
18g.31524461A=CA2293856961DSG2n.535A=
c.535A=
c.704A= (p.Tyr235=)
c.170A= (p.Tyr57=)
18g.31524461A>CCA402134864DSG2n.535A>C
c.535A>C
c.704A>C (p.Tyr235Ser)
c.170A>C (p.Tyr57Ser)
18g.31524461A>GCA022233DSG2n.535A>G
c.535A>G
c.704A>G (p.Tyr235Cys)
c.170A>G (p.Tyr57Cys)
 ClinVar dbSNP gnomAD v4
18g.31524461A>TCA402134862DSG2n.535A>T
c.535A>T
c.704A>T (p.Tyr235Phe)
c.170A>T (p.Tyr57Phe)
18g.31524463_31524464delCA2812000571DSG2n.537_538del
c.537_538del
c.706_707del (p.Thr236PhefsTer?)
c.172_173del (p.Thr58PhefsTer?)
18g.31524462C>ACA402134868DSG2n.536C>A
c.536C>A
c.705C>A (p.Tyr235Ter)
c.171C>A (p.Tyr57Ter)
 gnomAD v4
18g.31524462C=CA2293856963DSG2n.536C=
c.536C=
c.705C= (p.Tyr235=)
c.171C= (p.Tyr57=)
18g.31524462C>GCA402134866DSG2n.536C>G
c.536C>G
c.705C>G (p.Tyr235Ter)
c.171C>G (p.Tyr57Ter)
18g.31524462C>TCA503598889DSG2n.536C>T
c.536C>T
c.705C>T (p.Tyr235=)
c.171C>T (p.Tyr57=)
 dbSNP
18g.31524463A=CA2293856965DSG2n.537A=
c.537A=
c.706A= (p.Thr236=)
c.172A= (p.Thr58=)
18g.31524463A>CCA402134875DSG2n.537A>C
c.537A>C
c.706A>C (p.Thr236Pro)
c.172A>C (p.Thr58Pro)
 dbSNP gnomAD v4
18g.31524463A>GCA022239DSG2n.537A>G
c.537A>G
c.706A>G (p.Thr236Ala)
c.172A>G (p.Thr58Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31524463A>TCA402134874DSG2n.537A>T
c.537A>T
c.706A>T (p.Thr236Ser)
c.172A>T (p.Thr58Ser)
18g.31524464C>ACA402134877DSG2n.538C>A
c.538C>A
c.707C>A (p.Thr236Asn)
c.173C>A (p.Thr58Asn)
18g.31524464C=CA2293856967DSG2n.538C=
c.538C=
c.707C= (p.Thr236=)
c.173C= (p.Thr58=)
18g.31524464C>GCA402134878DSG2n.538C>G
c.538C>G
c.707C>G (p.Thr236Ser)
c.173C>G (p.Thr58Ser)
18g.31524464C>TCA402134881DSG2n.538C>T
c.538C>T
c.707C>T (p.Thr236Ile)
c.173C>T (p.Thr58Ile)
 dbSNP
18g.31524465T>ACA503598893DSG2n.539T>A
c.539T>A
c.708T>A (p.Thr236=)
c.174T>A (p.Thr58=)
18g.31524465T>CCA503598895DSG2n.539T>C
c.539T>C
c.708T>C (p.Thr236=)
c.174T>C (p.Thr58=)
18g.31524465T>GCA503598897DSG2n.539T>G
c.539T>G
c.708T>G (p.Thr236=)
c.174T>G (p.Thr58=)
18g.31524466_31524467dupCA2641406209DSG2n.540_541dup
c.540_541dup
c.709_710dup (p.Leu237PhefsTer2)
c.175_176dup (p.Leu59PhefsTer2)
 gnomAD v4
18g.31524466T>ACA402134882DSG2n.540T>A
c.540T>A
c.709T>A (p.Leu237Met)
c.175T>A (p.Leu59Met)
18g.31524466T>CCA503598899DSG2n.540T>C
c.540T>C
c.709T>C (p.Leu237=)
c.175T>C (p.Leu59=)
18g.31524466T>GCA402134884DSG2n.540T>G
c.540T>G
c.709T>G (p.Leu237Val)
c.175T>G (p.Leu59Val)
18g.31524467T>ACA402134885DSG2n.541T>A
c.541T>A
c.710T>A (p.Leu237Ter)
c.176T>A (p.Leu59Ter)
18g.31524467T>CCA402134886DSG2n.541T>C
c.541T>C
c.710T>C (p.Leu237Ser)
c.176T>C (p.Leu59Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.31524467T>GCA402134887DSG2n.541T>G
c.541T>G
c.710T>G (p.Leu237Trp)
c.176T>G (p.Leu59Trp)
18g.31524467T=CA2293856969DSG2n.541T=
c.541T=
c.710T= (p.Leu237=)
c.176T= (p.Leu59=)
18g.31524468G>ACA503598905DSG2n.542G>A
c.542G>A
c.711G>A (p.Leu237=)
c.177G>A (p.Leu59=)
 gnomAD v4
18g.31524468G>CCA402134889DSG2n.542G>C
c.542G>C
c.711G>C (p.Leu237Phe)
c.177G>C (p.Leu59Phe)
18g.31524468G>TCA402134890DSG2n.542G>T
c.542G>T
c.711G>T (p.Leu237Phe)
c.177G>T (p.Leu59Phe)
18g.31524469A>CCA402134895DSG2n.543A>C
c.543A>C
c.712A>C (p.Thr238Pro)
c.178A>C (p.Thr60Pro)
18g.31524469A>GCA402134891DSG2n.543A>G
c.543A>G
c.712A>G (p.Thr238Ala)
c.178A>G (p.Thr60Ala)
18g.31524469A>TCA402134893DSG2n.543A>T
c.543A>T
c.712A>T (p.Thr238Ser)
c.178A>T (p.Thr60Ser)
18g.31524470C>ACA402134896DSG2n.544C>A
c.544C>A
c.713C>A (p.Thr238Lys)
c.179C>A (p.Thr60Lys)
18g.31524470C=CA2293856971DSG2n.544C=
c.544C=
c.713C= (p.Thr238=)
c.179C= (p.Thr60=)
18g.31524470C>GCA402134897DSG2n.544C>G
c.544C>G
c.713C>G (p.Thr238Arg)
c.179C>G (p.Thr60Arg)
18g.31524470C>TCA049798DSG2n.544C>T
c.544C>T
c.713C>T (p.Thr238Ile)
c.179C>T (p.Thr60Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524471A>CCA503598913DSG2n.545A>C
c.545A>C
c.714A>C (p.Thr238=)
c.180A>C (p.Thr60=)
18g.31524471A>GCA503598914DSG2n.545A>G
c.545A>G
c.714A>G (p.Thr238=)
c.180A>G (p.Thr60=)
18g.31524471A>TCA503598916DSG2n.545A>T
c.545A>T
c.714A>T (p.Thr238=)
c.180A>T (p.Thr60=)
18g.31524473_31524475delCA2508011680DSG2n.547_549del
c.547_549del
c.716_718del (p.Val239del)
c.182_184del (p.Val61del)
18g.31524472G>ACA402134900DSG2n.546G>A
c.546G>A
c.715G>A (p.Val239Ile)
c.181G>A (p.Val61Ile)
 dbSNP
18g.31524472G>CCA402134902DSG2n.546G>C
c.546G>C
c.715G>C (p.Val239Leu)
c.181G>C (p.Val61Leu)
18g.31524472G=CA2293856973DSG2n.546G=
c.546G=
c.715G= (p.Val239=)
c.181G= (p.Val61=)
18g.31524472G>TCA402134903DSG2n.546G>T
c.546G>T
c.715G>T (p.Val239Leu)
c.181G>T (p.Val61Leu)
18g.31524473T>ACA402134905DSG2n.547T>A
c.547T>A
c.716T>A (p.Val239Glu)
c.182T>A (p.Val61Glu)
18g.31524473T>CCA022244DSG2n.547T>C
c.547T>C
c.716T>C (p.Val239Ala)
c.182T>C (p.Val61Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524473T>GCA402134908DSG2n.547T>G
c.547T>G
c.716T>G (p.Val239Gly)
c.182T>G (p.Val61Gly)
18g.31524473T=CA2293856976DSG2n.547T=
c.547T=
c.716T= (p.Val239=)
c.182T= (p.Val61=)
18g.31524474A>CCA503598917DSG2n.548A>C
c.548A>C
c.717A>C (p.Val239=)
c.183A>C (p.Val61=)
18g.31524474A>GCA503598918DSG2n.548A>G
c.548A>G
c.717A>G (p.Val239=)
c.183A>G (p.Val61=)
18g.31524474A>TCA503598919DSG2n.548A>T
c.548A>T
c.717A>T (p.Val239=)
c.183A>T (p.Val61=)
18g.31524475G>ACA402134909DSG2n.549G>A
c.549G>A
c.718G>A (p.Glu240Lys)
c.184G>A (p.Glu62Lys)
18g.31524475G>CCA402134911DSG2n.549G>C
c.549G>C
c.718G>C (p.Glu240Gln)
c.184G>C (p.Glu62Gln)
18g.31524475G>TCA402134912DSG2n.549G>T
c.549G>T
c.718G>T (p.Glu240Ter)
c.184G>T (p.Glu62Ter)
18g.31524476A=CA2293856978DSG2n.550A=
c.550A=
c.719A= (p.Glu240=)
c.185A= (p.Glu62=)
18g.31524476A>CCA402134917DSG2n.550A>C
c.550A>C
c.719A>C (p.Glu240Ala)
c.185A>C (p.Glu62Ala)
 ClinVar dbSNP gnomAD v4
18g.31524476A>GCA402134916DSG2n.550A>G
c.550A>G
c.719A>G (p.Glu240Gly)
c.185A>G (p.Glu62Gly)
18g.31524476A>TCA402134914DSG2n.550A>T
c.550A>T
c.719A>T (p.Glu240Val)
c.185A>T (p.Glu62Val)
18g.31524477A=CA2293856980DSG2n.551A=
c.551A=
c.720A= (p.Glu240=)
c.186A= (p.Glu62=)
18g.31524477A>CCA402134920DSG2n.551A>C
c.551A>C
c.720A>C (p.Glu240Asp)
c.186A>C (p.Glu62Asp)
 dbSNP gnomAD v3 gnomAD v4
18g.31524477A>GCA049816DSG2n.551A>G
c.551A>G
c.720A>G (p.Glu240=)
c.186A>G (p.Glu62=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524477A>TCA402134918DSG2n.551A>T
c.551A>T
c.720A>T (p.Glu240Asp)
c.186A>T (p.Glu62Asp)
18g.31524478G>ACA049829DSG2n.552G>A
c.552G>A
c.721G>A (p.Ala241Thr)
c.187G>A (p.Ala63Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524478G>CCA402134922DSG2n.552G>C
c.552G>C
c.721G>C (p.Ala241Pro)
c.187G>C (p.Ala63Pro)
 ClinVar
18g.31524478G=CA2293856982DSG2n.552G=
c.552G=
c.721G= (p.Ala241=)
c.187G= (p.Ala63=)
18g.31524478G>TCA402134923DSG2n.552G>T
c.552G>T
c.721G>T (p.Ala241Ser)
c.187G>T (p.Ala63Ser)
18g.31524479C>ACA402134925DSG2n.553C>A
c.553C>A
c.722C>A (p.Ala241Glu)
c.188C>A (p.Ala63Glu)
18g.31524479C=CA2293856984DSG2n.553C=
c.553C=
c.722C= (p.Ala241=)
c.188C= (p.Ala63=)
18g.31524479C>GCA402134927DSG2n.553C>G
c.553C>G
c.722C>G (p.Ala241Gly)
c.188C>G (p.Ala63Gly)
18g.31524479C>TCA049836DSG2n.553C>T
c.553C>T
c.722C>T (p.Ala241Val)
c.188C>T (p.Ala63Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524480A>CCA503598929DSG2n.554A>C
c.554A>C
c.723A>C (p.Ala241=)
c.189A>C (p.Ala63=)
18g.31524480A>GCA503598931DSG2n.554A>G
c.554A>G
c.723A>G (p.Ala241=)
c.189A>G (p.Ala63=)
18g.31524480A>TCA503598932DSG2n.554A>T
c.554A>T
c.723A>T (p.Ala241=)
c.189A>T (p.Ala63=)
18g.31524481A>CCA503598933DSG2n.555A>C
c.555A>C
c.724A>C (p.Arg242=)
c.190A>C (p.Arg64=)
18g.31524481A>GCA402134929DSG2n.555A>G
c.555A>G
c.724A>G (p.Arg242Gly)
c.190A>G (p.Arg64Gly)
18g.31524481A>TCA402134931DSG2n.555A>T
c.555A>T
c.724A>T (p.Arg242Ter)
c.190A>T (p.Arg64Ter)
18g.31524482G>ACA402134933DSG2n.556G>A
c.556G>A
c.725G>A (p.Arg242Lys)
c.191G>A (p.Arg64Lys)
 COSMIC
18g.31524482G>CCA402134934DSG2n.556G>C
c.556G>C
c.725G>C (p.Arg242Thr)
c.191G>C (p.Arg64Thr)
18g.31524482G>TCA402134936DSG2n.556G>T
c.556G>T
c.725G>T (p.Arg242Ile)
c.191G>T (p.Arg64Ile)
18g.31524483A>CCA402134938DSG2n.557A>C
c.557A>C
c.726A>C (p.Arg242Ser)
c.192A>C (p.Arg64Ser)
18g.31524483A>GCA503598940DSG2n.557A>G
c.557A>G
c.726A>G (p.Arg242=)
c.192A>G (p.Arg64=)
18g.31524483A>TCA402134937DSG2n.557A>T
c.557A>T
c.726A>T (p.Arg242Ser)
c.192A>T (p.Arg64Ser)
18g.31524484G>ACA402134940DSG2n.558G>A
c.558G>A
c.727G>A (p.Asp243Asn)
c.193G>A (p.Asp65Asn)
18g.31524484G>CCA402134941DSG2n.558G>C
c.558G>C
c.727G>C (p.Asp243His)
c.193G>C (p.Asp65His)
18g.31524484G>TCA402134943DSG2n.558G>T
c.558G>T
c.727G>T (p.Asp243Tyr)
c.193G>T (p.Asp65Tyr)
18g.31524485A>CCA402134945DSG2n.559A>C
c.559A>C
c.728A>C (p.Asp243Ala)
c.194A>C (p.Asp65Ala)
18g.31524485A>GCA402134947DSG2n.559A>G
c.559A>G
c.728A>G (p.Asp243Gly)
c.194A>G (p.Asp65Gly)
18g.31524485A>TCA402134948DSG2n.559A>T
c.559A>T
c.728A>T (p.Asp243Val)
c.194A>T (p.Asp65Val)
18g.31524486T>ACA402134950DSG2n.560T>A
c.560T>A
c.729T>A (p.Asp243Glu)
c.195T>A (p.Asp65Glu)
18g.31524486T>CCA503598949DSG2n.560T>C
c.560T>C
c.729T>C (p.Asp243=)
c.195T>C (p.Asp65=)
18g.31524486T>GCA402134952DSG2n.560T>G
c.560T>G
c.729T>G (p.Asp243Glu)
c.195T>G (p.Asp65Glu)
18g.31524487G>ACA402134954DSG2n.561G>A
c.561G>A
c.730G>A (p.Gly244Ser)
c.196G>A (p.Gly66Ser)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.31524487G>CCA049846DSG2n.561G>C
c.561G>C
c.730G>C (p.Gly244Arg)
c.196G>C (p.Gly66Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524487G=CA2293856986DSG2n.561G=
c.561G=
c.730G= (p.Gly244=)
c.196G= (p.Gly66=)
18g.31524487G>TCA402134956DSG2n.561G>T
c.561G>T
c.730G>T (p.Gly244Cys)
c.196G>T (p.Gly66Cys)
18g.31524488G>ACA402134958DSG2n.562G>A
c.562G>A
c.731G>A (p.Gly244Asp)
c.197G>A (p.Gly66Asp)
 gnomAD v4
18g.31524488G>CCA402134960DSG2n.562G>C
c.562G>C
c.731G>C (p.Gly244Ala)
c.197G>C (p.Gly66Ala)
18g.31524488G>TCA402134961DSG2n.562G>T
c.562G>T
c.731G>T (p.Gly244Val)
c.197G>T (p.Gly66Val)
18g.31524489C>ACA503598961DSG2n.563C>A
c.563C>A
c.732C>A (p.Gly244=)
c.198C>A (p.Gly66=)
18g.31524489C>GCA503598959DSG2n.563C>G
c.563C>G
c.732C>G (p.Gly244=)
c.198C>G (p.Gly66=)
18g.31524489C>TCA503598957DSG2n.563C>T
c.563C>T
c.732C>T (p.Gly244=)
c.198C>T (p.Gly66=)
18g.31524490A=CA2293856989DSG2n.564A=
c.564A=
c.733A= (p.Asn245=)
c.199A= (p.Asn67=)
18g.31524490A>CCA402134964DSG2n.564A>C
c.564A>C
c.733A>C (p.Asn245His)
c.199A>C (p.Asn67His)
 dbSNP gnomAD v2
18g.31524490A>GCA402134966DSG2n.564A>G
c.564A>G
c.733A>G (p.Asn245Asp)
c.199A>G (p.Asn67Asp)
18g.31524490A>TCA402134963DSG2n.564A>T
c.564A>T
c.733A>T (p.Asn245Tyr)
c.199A>T (p.Asn67Tyr)
18g.31524491A=CA2293856991DSG2n.565A=
c.565A=
c.734A= (p.Asn245=)
c.200A= (p.Asn67=)
18g.31524491A>CCA402134968DSG2n.565A>C
c.565A>C
c.734A>C (p.Asn245Thr)
c.200A>C (p.Asn67Thr)
18g.31524491A>GCA402134971DSG2n.565A>G
c.565A>G
c.734A>G (p.Asn245Ser)
c.200A>G (p.Asn67Ser)
 ClinVar dbSNP gnomAD v4 COSMIC
18g.31524491A>TCA402134970DSG2n.565A>T
c.565A>T
c.734A>T (p.Asn245Ile)
c.200A>T (p.Asn67Ile)
18g.31524492T>ACA402134973DSG2n.566T>A
c.566T>A
c.735T>A (p.Asn245Lys)
c.201T>A (p.Asn67Lys)
18g.31524492T>CCA503598972DSG2n.566T>C
c.566T>C
c.735T>C (p.Asn245=)
c.201T>C (p.Asn67=)
 dbSNP
18g.31524492T>GCA402134974DSG2n.566T>G
c.566T>G
c.735T>G (p.Asn245Lys)
c.201T>G (p.Asn67Lys)
18g.31524492T=CA2293856994DSG2n.566T=
c.566T=
c.735T= (p.Asn245=)
c.201T= (p.Asn67=)
18g.31524493G>ACA402134976DSG2n.567G>A
c.567G>A
c.736G>A (p.Gly246Arg)
c.202G>A (p.Gly68Arg)
18g.31524493G>CCA402134977DSG2n.567G>C
c.567G>C
c.736G>C (p.Gly246Arg)
c.202G>C (p.Gly68Arg)
18g.31524493G>TCA402134979DSG2n.567G>T
c.567G>T
c.736G>T (p.Gly246Ter)
c.202G>T (p.Gly68Ter)
18g.31524494G>ACA049867DSG2n.568G>A
c.568G>A
c.737G>A (p.Gly246Glu)
c.203G>A (p.Gly68Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524494G>CCA402134981DSG2n.568G>C
c.568G>C
c.737G>C (p.Gly246Ala)
c.203G>C (p.Gly68Ala)
18g.31524494G=CA2293856995DSG2n.568G=
c.568G=
c.737G= (p.Gly246=)
c.203G= (p.Gly68=)
18g.31524494G>TCA402134983DSG2n.568G>T
c.568G>T
c.737G>T (p.Gly246Val)
c.203G>T (p.Gly68Val)
18g.31524495A>CCA503598983DSG2n.569A>C
c.569A>C
c.738A>C (p.Gly246=)
c.204A>C (p.Gly68=)
18g.31524495A>GCA503598986DSG2n.569A>G
c.569A>G
c.738A>G (p.Gly246=)
c.204A>G (p.Gly68=)
18g.31524495A>TCA503598984DSG2n.569A>T
c.569A>T
c.738A>T (p.Gly246=)
c.204A>T (p.Gly68=)
18g.31524496G>ACA402134986DSG2n.570G>A
c.570G>A
c.739G>A (p.Glu247Lys)
c.205G>A (p.Glu69Lys)
18g.31524496G>CCA402134987DSG2n.570G>C
c.570G>C
c.739G>C (p.Glu247Gln)
c.205G>C (p.Glu69Gln)
18g.31524496G>TCA402134988DSG2n.570G>T
c.570G>T
c.739G>T (p.Glu247Ter)
c.205G>T (p.Glu69Ter)
18g.31524497A>CCA402134993DSG2n.571A>C
c.571A>C
c.740A>C (p.Glu247Ala)
c.206A>C (p.Glu69Ala)
18g.31524497A>GCA402134991DSG2n.571A>G
c.571A>G
c.740A>G (p.Glu247Gly)
c.206A>G (p.Glu69Gly)
18g.31524497A>TCA402134990DSG2n.571A>T
c.571A>T
c.740A>T (p.Glu247Val)
c.206A>T (p.Glu69Val)
18g.31524498A>CCA402134995DSG2n.572A>C
c.572A>C
c.741A>C (p.Glu247Asp)
c.207A>C (p.Glu69Asp)
18g.31524498A>GCA503598996DSG2n.572A>G
c.572A>G
c.741A>G (p.Glu247=)
c.207A>G (p.Glu69=)
18g.31524498A>TCA402134996DSG2n.572A>T
c.572A>T
c.741A>T (p.Glu247Asp)
c.207A>T (p.Glu69Asp)
18g.31524498_31524499insTCA2812000589DSG2n.572_573insT
c.572_573insT
c.741_742insT (p.Val248CysfsTer20)
c.207_208insT (p.Val70CysfsTer20)
18g.31524499G>ACA402134998DSG2n.573G>A
c.573G>A
c.742G>A (p.Val248Ile)
c.208G>A (p.Val70Ile)
18g.31524499G>CCA402134999DSG2n.573G>C
c.573G>C
c.742G>C (p.Val248Leu)
c.208G>C (p.Val70Leu)
18g.31524499G>TCA402135001DSG2n.573G>T
c.573G>T
c.742G>T (p.Val248Phe)
c.208G>T (p.Val70Phe)
18g.31524500T>ACA402135003DSG2n.574T>A
c.574T>A
c.743T>A (p.Val248Asp)
c.209T>A (p.Val70Asp)
18g.31524500T>CCA402135005DSG2n.574T>C
c.574T>C
c.743T>C (p.Val248Ala)
c.209T>C (p.Val70Ala)
18g.31524500T>GCA402135007DSG2n.574T>G
c.574T>G
c.743T>G (p.Val248Gly)
c.209T>G (p.Val70Gly)
18g.31524500_31524501insGATCGCCAGGCA2812000592DSG2n.574_575insGATCGCCAGG
c.574_575insGATCGCCAGG
c.743_744insGATCGCCAGG (p.Thr249IlefsTer22)
c.209_210insGATCGCCAGG (p.Thr71IlefsTer22)
18g.31524501T>ACA503599005DSG2n.575T>A
c.575T>A
c.744T>A (p.Val248=)
c.210T>A (p.Val70=)
18g.31524501T>CCA503599006DSG2n.575T>C
c.575T>C
c.744T>C (p.Val248=)
c.210T>C (p.Val70=)
18g.31524501T>GCA503599007DSG2n.575T>G
c.575T>G
c.744T>G (p.Val248=)
c.210T>G (p.Val70=)
18g.31524501T=CA2293856997DSG2n.575T=
c.575T=
c.744T= (p.Val248=)
c.210T= (p.Val70=)
18g.31524502A=CA2293856999DSG2n.576A=
c.576A=
c.745A= (p.Thr249=)
c.211A= (p.Thr71=)
18g.31524502A>CCA402135008DSG2n.576A>C
c.576A>C
c.745A>C (p.Thr249Pro)
c.211A>C (p.Thr71Pro)
18g.31524502A>GCA402135009DSG2n.576A>G
c.576A>G
c.745A>G (p.Thr249Ala)
c.211A>G (p.Thr71Ala)
 dbSNP
18g.31524502A>TCA402135011DSG2n.576A>T
c.576A>T
c.745A>T (p.Thr249Ser)
c.211A>T (p.Thr71Ser)
 COSMIC
18g.31524502dupCA1139666004DSG2n.576dup
c.576dup
c.745dup (p.Thr249AsnfsTer19)
c.211dup (p.Thr71AsnfsTer19)
 ClinVar dbSNP
18g.31524503C>ACA402135015DSG2n.577C>A
c.577C>A
c.746C>A (p.Thr249Lys)
c.212C>A (p.Thr71Lys)
18g.31524503C=CA2293857002DSG2n.577C=
c.577C=
c.746C= (p.Thr249=)
c.212C= (p.Thr71=)
18g.31524503C>GCA402135014DSG2n.577C>G
c.577C>G
c.746C>G (p.Thr249Arg)
c.212C>G (p.Thr71Arg)
18g.31524503C>TCA402135013DSG2n.577C>T
c.577C>T
c.746C>T (p.Thr249Ile)
c.212C>T (p.Thr71Ile)
 dbSNP gnomAD v2 gnomAD v4
18g.31524504A>CCA503599014DSG2n.578A>C
c.578A>C
c.747A>C (p.Thr249=)
c.213A>C (p.Thr71=)
18g.31524504A>GCA503599015DSG2n.578A>G
c.578A>G
c.747A>G (p.Thr249=)
c.213A>G (p.Thr71=)
18g.31524504A>TCA503599016DSG2n.578A>T
c.578A>T
c.747A>T (p.Thr249=)
c.213A>T (p.Thr71=)
18g.31524505G>ACA402135017DSG2n.579G>A
c.579G>A
c.748G>A (p.Asp250Asn)
c.214G>A (p.Asp72Asn)
18g.31524505G>CCA402135018DSG2n.579G>C
c.579G>C
c.748G>C (p.Asp250His)
c.214G>C (p.Asp72His)
 ClinVar
18g.31524505G=CA2293857004DSG2n.579G=
c.579G=
c.748G= (p.Asp250=)
c.214G= (p.Asp72=)
18g.31524505G>TCA402135020DSG2n.579G>T
c.579G>T
c.748G>T (p.Asp250Tyr)
c.214G>T (p.Asp72Tyr)
 ClinVar dbSNP gnomAD v4
18g.31524506A>CCA402135022DSG2n.580A>C
c.580A>C
c.749A>C (p.Asp250Ala)
c.215A>C (p.Asp72Ala)
18g.31524506A>GCA402135023DSG2n.580A>G
c.580A>G
c.749A>G (p.Asp250Gly)
c.215A>G (p.Asp72Gly)
 gnomAD v4
18g.31524506A>TCA402135025DSG2n.580A>T
c.580A>T
c.749A>T (p.Asp250Val)
c.215A>T (p.Asp72Val)
18g.31524507C>ACA402135027DSG2n.581C>A
c.581C>A
c.750C>A (p.Asp250Glu)
c.216C>A (p.Asp72Glu)
18g.31524507C=CA2293857005DSG2n.581C=
c.581C=
c.750C= (p.Asp250=)
c.216C= (p.Asp72=)
18g.31524507C>GCA402135028DSG2n.581C>G
c.581C>G
c.750C>G (p.Asp250Glu)
c.216C>G (p.Asp72Glu)
 dbSNP
18g.31524507C>TCA503599024DSG2n.581C>T
c.581C>T
c.750C>T (p.Asp250=)
c.216C>T (p.Asp72=)
18g.31524508A>CCA402135030DSG2n.582A>C
c.582A>C
c.751A>C (p.Lys251Gln)
c.217A>C (p.Lys73Gln)
18g.31524508A>GCA402135031DSG2n.582A>G
c.582A>G
c.751A>G (p.Lys251Glu)
c.217A>G (p.Lys73Glu)
18g.31524508A>TCA402135033DSG2n.582A>T
c.582A>T
c.751A>T (p.Lys251Ter)
c.217A>T (p.Lys73Ter)
18g.31524509A>CCA402135035DSG2n.583A>C
c.583A>C
c.752A>C (p.Lys251Thr)
c.218A>C (p.Lys73Thr)
18g.31524509A>GCA402135036DSG2n.583A>G
c.583A>G
c.752A>G (p.Lys251Arg)
c.218A>G (p.Lys73Arg)
18g.31524509A>TCA402135038DSG2n.583A>T
c.583A>T
c.752A>T (p.Lys251Ile)
c.218A>T (p.Lys73Ile)
18g.31524510A>CCA402135040DSG2n.584A>C
c.584A>C
c.753A>C (p.Lys251Asn)
c.219A>C (p.Lys73Asn)
18g.31524510A>GCA503599025DSG2n.584A>G
c.584A>G
c.753A>G (p.Lys251=)
c.219A>G (p.Lys73=)
18g.31524510A>TCA402135043DSG2n.584A>T
c.584A>T
c.753A>T (p.Lys251Asn)
c.219A>T (p.Lys73Asn)
18g.31524511C>ACA402135045DSG2n.585C>A
c.585C>A
c.754C>A (p.Pro252Thr)
c.220C>A (p.Pro74Thr)
18g.31524511C>GCA402135047DSG2n.585C>G
c.585C>G
c.754C>G (p.Pro252Ala)
c.220C>G (p.Pro74Ala)
18g.31524511C>TCA402135048DSG2n.585C>T
c.585C>T
c.754C>T (p.Pro252Ser)
c.220C>T (p.Pro74Ser)
18g.31524512C>ACA402135054DSG2n.586C>A
c.586C>A
c.755C>A (p.Pro252His)
c.221C>A (p.Pro74His)
18g.31524512C=CA2293857007DSG2n.586C=
c.586C=
c.755C= (p.Pro252=)
c.221C= (p.Pro74=)
18g.31524512C>GCA402135055DSG2n.586C>G
c.586C>G
c.755C>G (p.Pro252Arg)
c.221C>G (p.Pro74Arg)
 gnomAD v4
18g.31524512C>TCA297731880DSG2n.586C>T
c.586C>T
c.755C>T (p.Pro252Leu)
c.221C>T (p.Pro74Leu)
 ClinVar dbSNP gnomAD v4
18g.31524513T>ACA503599034DSG2n.587T>A
c.587T>A
c.756T>A (p.Pro252=)
c.222T>A (p.Pro74=)
18g.31524513T>CCA503599036DSG2n.587T>C
c.587T>C
c.756T>C (p.Pro252=)
c.222T>C (p.Pro74=)
18g.31524513T>GCA503599038DSG2n.587T>G
c.587T>G
c.756T>G (p.Pro252=)
c.222T>G (p.Pro74=)
 ClinVar
18g.31524514G>ACA402135059DSG2n.588G>A
c.588G>A
c.757G>A (p.Val253Ile)
c.223G>A (p.Val75Ile)
 dbSNP gnomAD v2 gnomAD v4
18g.31524514G>CCA402135060DSG2n.588G>C
c.588G>C
c.757G>C (p.Val253Leu)
c.223G>C (p.Val75Leu)
18g.31524514G=CA2293857009DSG2n.588G=
c.588G=
c.757G= (p.Val253=)
c.223G= (p.Val75=)
18g.31524514G>TCA402135061DSG2n.588G>T
c.588G>T
c.757G>T (p.Val253Leu)
c.223G>T (p.Val75Leu)
18g.31524515T>ACA402135063DSG2n.589T>A
c.589T>A
c.758T>A (p.Val253Glu)
c.224T>A (p.Val75Glu)
18g.31524515T>CCA402135065DSG2n.589T>C
c.589T>C
c.758T>C (p.Val253Ala)
c.224T>C (p.Val75Ala)
 gnomAD v3 gnomAD v4
18g.31524515T>GCA402135067DSG2n.589T>G
c.589T>G
c.758T>G (p.Val253Gly)
c.224T>G (p.Val75Gly)
18g.31524516A>CCA503599048DSG2n.590A>C
c.590A>C
c.759A>C (p.Val253=)
c.225A>C (p.Val75=)
18g.31524516A>GCA503599050DSG2n.590A>G
c.590A>G
c.759A>G (p.Val253=)
c.225A>G (p.Val75=)
 ClinVar gnomAD v4
18g.31524516A>TCA503599046DSG2n.590A>T
c.590A>T
c.759A>T (p.Val253=)
c.225A>T (p.Val75=)
18g.31524517A>CCA402135070DSG2n.591A>C
c.591A>C
c.760A>C (p.Lys254Gln)
c.226A>C (p.Lys76Gln)
18g.31524517A>GCA402135071DSG2n.591A>G
c.591A>G
c.760A>G (p.Lys254Glu)
c.226A>G (p.Lys76Glu)
18g.31524517A>TCA402135068DSG2n.591A>T
c.591A>T
c.760A>T (p.Lys254Ter)
c.226A>T (p.Lys76Ter)
18g.31524519_31524522delCA2641406210DSG2n.593_596del
c.593_596del
c.762_765del (p.Gln255LeufsTer16)
c.228_231del (p.Gln77LeufsTer16)
 gnomAD v4
18g.31524518A>CCA402135073DSG2n.592A>C
c.592A>C
c.761A>C (p.Lys254Thr)
c.227A>C (p.Lys76Thr)
18g.31524518A>GCA402135076DSG2n.592A>G
c.592A>G
c.761A>G (p.Lys254Arg)
c.227A>G (p.Lys76Arg)
 gnomAD v4
18g.31524518A>TCA402135075DSG2n.592A>T
c.592A>T
c.761A>T (p.Lys254Ile)
c.227A>T (p.Lys76Ile)
18g.31524519A>CCA402135078DSG2n.593A>C
c.593A>C
c.762A>C (p.Lys254Asn)
c.228A>C (p.Lys76Asn)
18g.31524519A>GCA503599058DSG2n.593A>G
c.593A>G
c.762A>G (p.Lys254=)
c.228A>G (p.Lys76=)
 ClinVar
18g.31524519A>TCA402135080DSG2n.593A>T
c.593A>T
c.762A>T (p.Lys254Asn)
c.228A>T (p.Lys76Asn)
18g.31524520C>ACA402135082DSG2n.594C>A
c.594C>A
c.763C>A (p.Gln255Lys)
c.229C>A (p.Gln77Lys)
18g.31524520C=CA2293857011DSG2n.594C=
c.594C=
c.763C= (p.Gln255=)
c.229C= (p.Gln77=)
18g.31524520C>GCA402135084DSG2n.594C>G
c.594C>G
c.763C>G (p.Gln255Glu)
c.229C>G (p.Gln77Glu)
 dbSNP gnomAD v3 gnomAD v4
18g.31524520C>TCA402135086DSG2n.594C>T
c.594C>T
c.763C>T (p.Gln255Ter)
c.229C>T (p.Gln77Ter)
18g.31524521A=CA2293857013DSG2n.595A=
c.595A=
c.764A= (p.Gln255=)
c.230A= (p.Gln77=)
18g.31524521A>CCA402135087DSG2n.595A>C
c.595A>C
c.764A>C (p.Gln255Pro)
c.230A>C (p.Gln77Pro)
18g.31524521A>GCA402135089DSG2n.595A>G
c.595A>G
c.764A>G (p.Gln255Arg)
c.230A>G (p.Gln77Arg)
 dbSNP gnomAD v2 gnomAD v4
18g.31524521A>TCA402135091DSG2n.595A>T
c.595A>T
c.764A>T (p.Gln255Leu)
c.230A>T (p.Gln77Leu)
18g.31524522A>CCA402135092DSG2n.596A>C
c.596A>C
c.765A>C (p.Gln255His)
c.231A>C (p.Gln77His)
18g.31524522A>GCA503599069DSG2n.596A>G
c.596A>G
c.765A>G (p.Gln255=)
c.231A>G (p.Gln77=)
18g.31524522A>TCA402135094DSG2n.596A>T
c.596A>T
c.765A>T (p.Gln255His)
c.231A>T (p.Gln77His)
18g.31524523G>ACA402135095DSG2n.597G>A
c.597G>A
c.766G>A (p.Ala256Thr)
c.232G>A (p.Ala78Thr)
18g.31524523G>CCA402135097DSG2n.597G>C
c.597G>C
c.766G>C (p.Ala256Pro)
c.232G>C (p.Ala78Pro)
18g.31524523G>TCA402135099DSG2n.597G>T
c.597G>T
c.766G>T (p.Ala256Ser)
c.232G>T (p.Ala78Ser)
18g.31524524C>ACA402135103DSG2n.598C>A
c.598C>A
c.767C>A (p.Ala256Asp)
c.233C>A (p.Ala78Asp)
18g.31524524C>GCA402135102DSG2n.598C>G
c.598C>G
c.767C>G (p.Ala256Gly)
c.233C>G (p.Ala78Gly)
18g.31524524C>TCA402135101DSG2n.598C>T
c.598C>T
c.767C>T (p.Ala256Val)
c.233C>T (p.Ala78Val)
18g.31524525T>ACA503599072DSG2n.599T>A
c.599T>A
c.768T>A (p.Ala256=)
c.234T>A (p.Ala78=)
18g.31524525T>CCA503599073DSG2n.599T>C
c.599T>C
c.768T>C (p.Ala256=)
c.234T>C (p.Ala78=)
18g.31524525T>GCA503599075DSG2n.599T>G
c.599T>G
c.768T>G (p.Ala256=)
c.234T>G (p.Ala78=)
18g.31524526C>ACA402135104DSG2n.600C>A
c.600C>A
c.769C>A (p.Gln257Lys)
c.235C>A (p.Gln79Lys)
18g.31524526C=CA2293857015DSG2n.600C=
c.600C=
c.769C= (p.Gln257=)
c.235C= (p.Gln79=)
18g.31524526C>GCA402135106DSG2n.600C>G
c.600C>G
c.769C>G (p.Gln257Glu)
c.235C>G (p.Gln79Glu)
 dbSNP gnomAD v3 gnomAD v4
18g.31524526C>TCA022251DSG2n.600C>T
c.600C>T
c.769C>T (p.Gln257Ter)
c.235C>T (p.Gln79Ter)
 ClinVar dbSNP
18g.31524527A=CA2293857017DSG2n.601A=
c.601A=
c.770A= (p.Gln257=)
c.236A= (p.Gln79=)
18g.31524527A>CCA402135109DSG2n.601A>C
c.601A>C
c.770A>C (p.Gln257Pro)
c.236A>C (p.Gln79Pro)
 gnomAD v4
18g.31524527A>GCA049874DSG2n.601A>G
c.601A>G
c.770A>G (p.Gln257Arg)
c.236A>G (p.Gln79Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524527A>TCA402135111DSG2n.601A>T
c.601A>T
c.770A>T (p.Gln257Leu)
c.236A>T (p.Gln79Leu)
18g.31524528A>CCA402135112DSG2n.602A>C
c.602A>C
c.771A>C (p.Gln257His)
c.237A>C (p.Gln79His)
18g.31524528A>GCA503599084DSG2n.602A>G
c.602A>G
c.771A>G (p.Gln257=)
c.237A>G (p.Gln79=)
18g.31524528A>TCA402135114DSG2n.602A>T
c.602A>T
c.771A>T (p.Gln257His)
c.237A>T (p.Gln79His)
18g.31524529G>ACA402135116DSG2n.603G>A
c.603G>A
c.772G>A (p.Val258Ile)
c.238G>A (p.Val80Ile)
18g.31524529G>CCA402135117DSG2n.603G>C
c.603G>C
c.772G>C (p.Val258Leu)
c.238G>C (p.Val80Leu)
18g.31524529G=CA2293857019DSG2n.603G=
c.603G=
c.772G= (p.Val258=)
c.238G= (p.Val80=)
18g.31524529G>TCA16615802DSG2n.603G>T
c.603G>T
c.772G>T (p.Val258Phe)
c.238G>T (p.Val80Phe)
 ClinVar dbSNP gnomAD v4
18g.31524530T>ACA402135120DSG2n.604T>A
c.604T>A
c.773T>A (p.Val258Asp)
c.239T>A (p.Val80Asp)
18g.31524530T>CCA402135122DSG2n.604T>C
c.604T>C
c.773T>C (p.Val258Ala)
c.239T>C (p.Val80Ala)
18g.31524530T>GCA402135123DSG2n.604T>G
c.604T>G
c.773T>G (p.Val258Gly)
c.239T>G (p.Val80Gly)
18g.31524531T>ACA503599093DSG2n.605T>A
c.605T>A
c.774T>A (p.Val258=)
c.240T>A (p.Val80=)
18g.31524531T>CCA503599095DSG2n.605T>C
c.605T>C
c.774T>C (p.Val258=)
c.240T>C (p.Val80=)
18g.31524531T>GCA503599097DSG2n.605T>G
c.605T>G
c.774T>G (p.Val258=)
c.240T>G (p.Val80=)
18g.31524532C>ACA402135128DSG2n.606C>A
c.606C>A
c.775C>A (p.Gln259Lys)
c.241C>A (p.Gln81Lys)
18g.31524532C=CA2293857021DSG2n.606C=
c.606C=
c.775C= (p.Gln259=)
c.241C= (p.Gln81=)
18g.31524532C>GCA402135126DSG2n.606C>G
c.606C>G
c.775C>G (p.Gln259Glu)
c.241C>G (p.Gln81Glu)
 dbSNP
18g.31524532C>TCA402135125DSG2n.606C>T
c.606C>T
c.775C>T (p.Gln259Ter)
c.241C>T (p.Gln81Ter)
18g.31524533A>CCA402135130DSG2n.607A>C
c.607A>C
c.776A>C (p.Gln259Pro)
c.242A>C (p.Gln81Pro)
18g.31524533A>GCA402135131DSG2n.607A>G
c.607A>G
c.776A>G (p.Gln259Arg)
c.242A>G (p.Gln81Arg)
18g.31524533A>TCA402135132DSG2n.607A>T
c.607A>T
c.776A>T (p.Gln259Leu)
c.242A>T (p.Gln81Leu)
18g.31524534G>ACA503599105DSG2n.608G>A
c.608G>A
c.777G>A (p.Gln259=)
c.243G>A (p.Gln81=)
 COSMIC
18g.31524534G>CCA402135134DSG2n.608G>C
c.608G>C
c.777G>C (p.Gln259His)
c.243G>C (p.Gln81His)
18g.31524534G>TCA402135135DSG2n.608G>T
c.608G>T
c.777G>T (p.Gln259His)
c.243G>T (p.Gln81His)
18g.31524535A>CCA402135137DSG2n.609A>C
c.609A>C
c.778A>C (p.Ile260Leu)
c.244A>C (p.Ile82Leu)
18g.31524535A>GCA402135138DSG2n.609A>G
c.609A>G
c.778A>G (p.Ile260Val)
c.244A>G (p.Ile82Val)
18g.31524535A>TCA402135140DSG2n.609A>T
c.609A>T
c.778A>T (p.Ile260Phe)
c.244A>T (p.Ile82Phe)
18g.31524536T>ACA402135142DSG2n.610T>A
c.610T>A
c.779T>A (p.Ile260Asn)
c.245T>A (p.Ile82Asn)
18g.31524536T>CCA402135144DSG2n.610T>C
c.610T>C
c.779T>C (p.Ile260Thr)
c.245T>C (p.Ile82Thr)
18g.31524536T>GCA402135145DSG2n.610T>G
c.610T>G
c.779T>G (p.Ile260Ser)
c.245T>G (p.Ile82Ser)
18g.31524537T>ACA503599116DSG2n.611T>A
c.611T>A
c.780T>A (p.Ile260=)
c.246T>A (p.Ile82=)
18g.31524537T>CCA503599113DSG2n.611T>C
c.611T>C
c.780T>C (p.Ile260=)
c.246T>C (p.Ile82=)
 dbSNP
18g.31524537T>GCA402135147DSG2n.611T>G
c.611T>G
c.780T>G (p.Ile260Met)
c.246T>G (p.Ile82Met)
 gnomAD v4
18g.31524538C>ACA402135151DSG2n.612C>A
c.612C>A
c.781C>A (p.Arg261Ser)
c.247C>A (p.Arg83Ser)
18g.31524538C=CA2293857023DSG2n.612C=
c.612C=
c.781C= (p.Arg261=)
c.247C= (p.Arg83=)
18g.31524538C>GCA402135150DSG2n.612C>G
c.612C>G
c.781C>G (p.Arg261Gly)
c.247C>G (p.Arg83Gly)
18g.31524538C>TCA297731895DSG2n.612C>T
c.612C>T
c.781C>T (p.Arg261Cys)
c.247C>T (p.Arg83Cys)
 ClinVar dbSNP gnomAD v4 COSMIC
18g.31524539G>ACA022257DSG2n.613G>A
c.613G>A
c.782G>A (p.Arg261His)
c.248G>A (p.Arg83His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.31524539G>CCA402135154DSG2n.613G>C
c.613G>C
c.782G>C (p.Arg261Pro)
c.248G>C (p.Arg83Pro)
18g.31524539G=CA2293857025DSG2n.613G=
c.613G=
c.782G= (p.Arg261=)
c.248G= (p.Arg83=)
18g.31524539G>TCA049879DSG2n.613G>T
c.613G>T
c.782G>T (p.Arg261Leu)
c.248G>T (p.Arg83Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.31524540T>ACA049892DSG2n.614T>A
c.614T>A
c.783T>A (p.Arg261=)
c.249T>A (p.Arg83=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.31524540T>CCA503599125DSG2n.614T>C
c.614T>C
c.783T>C (p.Arg261=)
c.249T>C (p.Arg83=)
18g.31524540T>GCA503599126DSG2n.614T>G
c.614T>G
c.783T>G (p.Arg261=)
c.249T>G (p.Arg83=)
18g.31524540T=CA2293857030DSG2n.614T=
c.614T=
c.783T= (p.Arg261=)
c.249T= (p.Arg83=)
18g.31524541A=CA2293857032DSG2n.615A=
c.615A=
c.784A= (p.Ile262=)
c.250A= (p.Ile84=)
18g.31524541A>CCA402135155DSG2n.615A>C
c.615A>C
c.784A>C (p.Ile262Leu)
c.250A>C (p.Ile84Leu)
18g.31524541A>GCA402135157DSG2n.615A>G
c.615A>G
c.784A>G (p.Ile262Val)
c.250A>G (p.Ile84Val)
 ClinVar dbSNP
18g.31524541A>TCA402135158DSG2n.615A>T
c.615A>T
c.784A>T (p.Ile262Phe)
c.250A>T (p.Ile84Phe)
18g.31524542T>ACA402135161DSG2n.616T>A
c.616T>A
c.785T>A (p.Ile262Asn)
c.251T>A (p.Ile84Asn)
18g.31524542T>CCA402135162DSG2n.616T>C
c.616T>C
c.785T>C (p.Ile262Thr)
c.251T>C (p.Ile84Thr)
18g.31524542T>GCA402135163DSG2n.616T>G
c.616T>G
c.785T>G (p.Ile262Ser)
c.251T>G (p.Ile84Ser)
18g.31524543T>ACA503599137DSG2n.617T>A
c.617T>A
c.786T>A (p.Ile262=)
c.252T>A (p.Ile84=)
18g.31524543T>CCA503599133DSG2n.617T>C
c.617T>C
c.786T>C (p.Ile262=)
c.252T>C (p.Ile84=)
18g.31524543T>GCA402135165DSG2n.617T>G
c.617T>G
c.786T>G (p.Ile262Met)
c.252T>G (p.Ile84Met)
18g.31524544T>ACA402135166DSG2n.618T>A
c.618T>A
c.787T>A (p.Leu263Met)
c.253T>A (p.Leu85Met)
18g.31524544T>CCA503599140DSG2n.618T>C
c.618T>C
c.787T>C (p.Leu263=)
c.253T>C (p.Leu85=)
18g.31524544T>GCA402135168DSG2n.618T>G
c.618T>G
c.787T>G (p.Leu263Val)
c.253T>G (p.Leu85Val)
18g.31524545T>ACA402135171DSG2n.619T>A
c.619T>A
c.788T>A (p.Leu263Ter)
c.254T>A (p.Leu85Ter)
 dbSNP gnomAD v2 gnomAD v4
18g.31524545T>CCA402135173DSG2n.619T>C
c.619T>C
c.788T>C (p.Leu263Ser)
c.254T>C (p.Leu85Ser)
18g.31524545T>GCA402135169DSG2n.619T>G
c.619T>G
c.788T>G (p.Leu263Trp)
c.254T>G (p.Leu85Trp)
 gnomAD v4
18g.31524545T=CA2293857034DSG2n.619T=
c.619T=
c.788T= (p.Leu263=)
c.254T= (p.Leu85=)

Number of alleles fetched