Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.189868565T>CCA2752321TP63c.993-15T>C (n.993-15T>C)
c.711-15T>C (n.711-15T>C)
c.456-15T>C (n.456-15T>C)
n.817-15T>C
c.942-15T>C (n.942-15T>C)
c.990-15T>C (n.990-15T>C)
c.987-15T>C (n.987-15T>C)
c.954-15T>C (n.954-15T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868565T=CA1428495620TP63c.993-15T= (n.993-15T=)
c.711-15T= (n.711-15T=)
c.456-15T= (n.456-15T=)
n.817-15T=
c.942-15T= (n.942-15T=)
c.990-15T= (n.990-15T=)
c.987-15T= (n.987-15T=)
c.954-15T= (n.954-15T=)
3g.189868566A>TCA2704924002TP63c.993-14A>T (n.993-14A>T)
c.711-14A>T (n.711-14A>T)
c.456-14A>T (n.456-14A>T)
n.817-14A>T
c.942-14A>T (n.942-14A>T)
c.990-14A>T (n.990-14A>T)
c.987-14A>T (n.987-14A>T)
c.954-14A>T (n.954-14A>T)
 dbSNP
3g.189868567T>CCA2704924008TP63c.993-13T>C (n.993-13T>C)
c.711-13T>C (n.711-13T>C)
c.456-13T>C (n.456-13T>C)
n.817-13T>C
c.942-13T>C (n.942-13T>C)
c.990-13T>C (n.990-13T>C)
c.987-13T>C (n.987-13T>C)
c.954-13T>C (n.954-13T>C)
 dbSNP
3g.189868569C>ACA2704924186TP63c.993-11C>A (n.993-11C>A)
c.711-11C>A (n.711-11C>A)
c.456-11C>A (n.456-11C>A)
n.817-11C>A
c.942-11C>A (n.942-11C>A)
c.990-11C>A (n.990-11C>A)
c.987-11C>A (n.987-11C>A)
c.954-11C>A (n.954-11C>A)
 dbSNP
3g.189868569C>GCA2704924011TP63c.993-11C>G (n.993-11C>G)
c.711-11C>G (n.711-11C>G)
c.456-11C>G (n.456-11C>G)
n.817-11C>G
c.942-11C>G (n.942-11C>G)
c.990-11C>G (n.990-11C>G)
c.987-11C>G (n.987-11C>G)
c.954-11C>G (n.954-11C>G)
 dbSNP
3g.189868569C>TCA2704924075TP63c.993-11C>T (n.993-11C>T)
c.711-11C>T (n.711-11C>T)
c.456-11C>T (n.456-11C>T)
n.817-11C>T
c.942-11C>T (n.942-11C>T)
c.990-11C>T (n.990-11C>T)
c.987-11C>T (n.987-11C>T)
c.954-11C>T (n.954-11C>T)
 dbSNP
3g.189868570T>CCA2669042479TP63c.993-10T>C (n.993-10T>C)
c.711-10T>C (n.711-10T>C)
c.456-10T>C (n.456-10T>C)
n.817-10T>C
c.942-10T>C (n.942-10T>C)
c.990-10T>C (n.990-10T>C)
c.987-10T>C (n.987-10T>C)
c.954-10T>C (n.954-10T>C)
 gnomAD v4
3g.189868571A=CA1428495629TP63c.993-9A= (n.993-9A=)
c.711-9A= (n.711-9A=)
c.456-9A= (n.456-9A=)
n.817-9A=
c.942-9A= (n.942-9A=)
c.990-9A= (n.990-9A=)
c.987-9A= (n.987-9A=)
c.954-9A= (n.954-9A=)
3g.189868571A>CCA89746558TP63c.993-9A>C (n.993-9A>C)
c.711-9A>C (n.711-9A>C)
c.456-9A>C (n.456-9A>C)
n.817-9A>C
c.942-9A>C (n.942-9A>C)
c.990-9A>C (n.990-9A>C)
c.987-9A>C (n.987-9A>C)
c.954-9A>C (n.954-9A>C)
 dbSNP
3g.189868571A>GCA2752322TP63c.993-9A>G (n.993-9A>G)
c.711-9A>G (n.711-9A>G)
c.456-9A>G (n.456-9A>G)
n.817-9A>G
c.942-9A>G (n.942-9A>G)
c.990-9A>G (n.990-9A>G)
c.987-9A>G (n.987-9A>G)
c.954-9A>G (n.954-9A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868572delCA2704924349TP63c.993-8del (n.993-8del)
c.711-8del (n.711-8del)
c.456-8del (n.456-8del)
n.817-8del
c.942-8del (n.942-8del)
c.990-8del (n.990-8del)
c.987-8del (n.987-8del)
c.954-8del (n.954-8del)
 dbSNP
3g.189868572A>TCA2669042480TP63c.993-8A>T (n.993-8A>T)
c.711-8A>T (n.711-8A>T)
c.456-8A>T (n.456-8A>T)
n.817-8A>T
c.942-8A>T (n.942-8A>T)
c.990-8A>T (n.990-8A>T)
c.987-8A>T (n.987-8A>T)
c.954-8A>T (n.954-8A>T)
 dbSNP gnomAD v4
3g.189868575C=CA1428495634TP63c.993-5C= (n.993-5C=)
c.711-5C= (n.711-5C=)
c.456-5C= (n.456-5C=)
n.817-5C=
c.942-5C= (n.942-5C=)
c.990-5C= (n.990-5C=)
c.987-5C= (n.987-5C=)
c.954-5C= (n.954-5C=)
3g.189868575C>GCA2669042481TP63c.993-5C>G (n.993-5C>G)
c.711-5C>G (n.711-5C>G)
c.456-5C>G (n.456-5C>G)
n.817-5C>G
c.942-5C>G (n.942-5C>G)
c.990-5C>G (n.990-5C>G)
c.987-5C>G (n.987-5C>G)
c.954-5C>G (n.954-5C>G)
 gnomAD v4
3g.189868575C>TCA548483591TP63c.993-5C>T (n.993-5C>T)
c.711-5C>T (n.711-5C>T)
c.456-5C>T (n.456-5C>T)
n.817-5C>T
c.942-5C>T (n.942-5C>T)
c.990-5C>T (n.990-5C>T)
c.987-5C>T (n.987-5C>T)
c.954-5C>T (n.954-5C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.189868576C>ACA2704761417TP63c.993-4C>A (n.993-4C>A)
c.711-4C>A (n.711-4C>A)
c.456-4C>A (n.456-4C>A)
n.817-4C>A
c.942-4C>A (n.942-4C>A)
c.990-4C>A (n.990-4C>A)
c.987-4C>A (n.987-4C>A)
c.954-4C>A (n.954-4C>A)
 dbSNP
3g.189868576C=CA1428495641TP63c.993-4C= (n.993-4C=)
c.711-4C= (n.711-4C=)
c.456-4C= (n.456-4C=)
n.817-4C=
c.942-4C= (n.942-4C=)
c.990-4C= (n.990-4C=)
c.987-4C= (n.987-4C=)
c.954-4C= (n.954-4C=)
3g.189868576C>TCA1428495643TP63c.993-4C>T (n.993-4C>T)
c.711-4C>T (n.711-4C>T)
c.456-4C>T (n.456-4C>T)
n.817-4C>T
c.942-4C>T (n.942-4C>T)
c.990-4C>T (n.990-4C>T)
c.987-4C>T (n.987-4C>T)
c.954-4C>T (n.954-4C>T)
 dbSNP gnomAD v4
3g.189868578A>CCA355755086TP63c.993-2A>C (n.993-2A>C)
c.711-2A>C (n.711-2A>C)
c.456-2A>C (n.456-2A>C)
n.817-2A>C
c.942-2A>C (n.942-2A>C)
c.990-2A>C (n.990-2A>C)
c.987-2A>C (n.987-2A>C)
c.954-2A>C (n.954-2A>C)
3g.189868578A>GCA355755088TP63c.993-2A>G (n.993-2A>G)
c.711-2A>G (n.711-2A>G)
c.456-2A>G (n.456-2A>G)
n.817-2A>G
c.942-2A>G (n.942-2A>G)
c.990-2A>G (n.990-2A>G)
c.987-2A>G (n.987-2A>G)
c.954-2A>G (n.954-2A>G)
3g.189868578A>TCA355755087TP63c.993-2A>T (n.993-2A>T)
c.711-2A>T (n.711-2A>T)
c.456-2A>T (n.456-2A>T)
n.817-2A>T
c.942-2A>T (n.942-2A>T)
c.990-2A>T (n.990-2A>T)
c.987-2A>T (n.987-2A>T)
c.954-2A>T (n.954-2A>T)
 dbSNP
3g.189868579G>ACA355755089TP63c.993-1G>A (n.993-1G>A)
c.711-1G>A (n.711-1G>A)
c.456-1G>A (n.456-1G>A)
n.817-1G>A
c.942-1G>A (n.942-1G>A)
c.990-1G>A (n.990-1G>A)
c.987-1G>A (n.987-1G>A)
c.954-1G>A (n.954-1G>A)
3g.189868579G>CCA355755090TP63c.993-1G>C (n.993-1G>C)
c.711-1G>C (n.711-1G>C)
c.456-1G>C (n.456-1G>C)
n.817-1G>C
c.942-1G>C (n.942-1G>C)
c.990-1G>C (n.990-1G>C)
c.987-1G>C (n.987-1G>C)
c.954-1G>C (n.954-1G>C)
 dbSNP
3g.189868579G>TCA355755091TP63c.993-1G>T (n.993-1G>T)
c.711-1G>T (n.711-1G>T)
c.456-1G>T (n.456-1G>T)
n.817-1G>T
c.942-1G>T (n.942-1G>T)
c.990-1G>T (n.990-1G>T)
c.987-1G>T (n.987-1G>T)
c.954-1G>T (n.954-1G>T)
3g.189868580T>ACA355755092TP63c.993T>A (p.Asp331Glu)
c.711T>A (p.Asp237Glu)
c.456T>A (p.Asp152Glu)
n.817T>A
c.942T>A (p.Asp314Glu)
c.990T>A (p.Asp330Glu)
c.987T>A (p.Asp329Glu)
c.954T>A (p.Asp318Glu)
3g.189868580T>CCA437413301TP63c.993T>C (p.Asp331=)
c.711T>C (p.Asp237=)
c.456T>C (p.Asp152=)
n.817T>C
c.942T>C (p.Asp314=)
c.990T>C (p.Asp330=)
c.987T>C (p.Asp329=)
c.954T>C (p.Asp318=)
3g.189868580T>GCA355755093TP63c.993T>G (p.Asp331Glu)
c.711T>G (p.Asp237Glu)
c.456T>G (p.Asp152Glu)
n.817T>G
c.942T>G (p.Asp314Glu)
c.990T>G (p.Asp330Glu)
c.987T>G (p.Asp329Glu)
c.954T>G (p.Asp318Glu)
3g.189868581G>ACA89746580TP63c.994G>A (p.Gly332Arg)
c.712G>A (p.Gly238Arg)
c.457G>A (p.Gly153Arg)
n.818G>A
c.943G>A (p.Gly315Arg)
c.991G>A (p.Gly331Arg)
c.988G>A (p.Gly330Arg)
c.955G>A (p.Gly319Arg)
 dbSNP
3g.189868581G>CCA355755094TP63c.994G>C (p.Gly332Arg)
c.712G>C (p.Gly238Arg)
c.457G>C (p.Gly153Arg)
n.818G>C
c.943G>C (p.Gly315Arg)
c.991G>C (p.Gly331Arg)
c.988G>C (p.Gly330Arg)
c.955G>C (p.Gly319Arg)
 dbSNP
3g.189868581G=CA1428495646TP63c.994G= (p.Gly332=)
c.712G= (p.Gly238=)
c.457G= (p.Gly153=)
n.818G=
c.943G= (p.Gly315=)
c.991G= (p.Gly331=)
c.988G= (p.Gly330=)
c.955G= (p.Gly319=)
3g.189868581G>TCA355755095TP63c.994G>T (p.Gly332Trp)
c.712G>T (p.Gly238Trp)
c.457G>T (p.Gly153Trp)
n.818G>T
c.943G>T (p.Gly315Trp)
c.991G>T (p.Gly331Trp)
c.988G>T (p.Gly330Trp)
c.955G>T (p.Gly319Trp)
3g.189868582G>ACA355755096TP63c.995G>A (p.Gly332Glu)
c.713G>A (p.Gly238Glu)
c.458G>A (p.Gly153Glu)
n.819G>A
c.944G>A (p.Gly315Glu)
c.992G>A (p.Gly331Glu)
c.989G>A (p.Gly330Glu)
c.956G>A (p.Gly319Glu)
3g.189868582G>CCA355755097TP63c.995G>C (p.Gly332Ala)
c.713G>C (p.Gly238Ala)
c.458G>C (p.Gly153Ala)
n.819G>C
c.944G>C (p.Gly315Ala)
c.992G>C (p.Gly331Ala)
c.989G>C (p.Gly330Ala)
c.956G>C (p.Gly319Ala)
 dbSNP
3g.189868582G>TCA355755098TP63c.995G>T (p.Gly332Val)
c.713G>T (p.Gly238Val)
c.458G>T (p.Gly153Val)
n.819G>T
c.944G>T (p.Gly315Val)
c.992G>T (p.Gly331Val)
c.989G>T (p.Gly330Val)
c.956G>T (p.Gly319Val)
 dbSNP
3g.189868583G>ACA2752324TP63c.996G>A (p.Gly332=)
c.714G>A (p.Gly238=)
c.459G>A (p.Gly153=)
n.820G>A
c.945G>A (p.Gly315=)
c.993G>A (p.Gly331=)
c.990G>A (p.Gly330=)
c.957G>A (p.Gly319=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868583G>CCA2752323TP63c.996G>C (p.Gly332=)
c.714G>C (p.Gly238=)
c.459G>C (p.Gly153=)
n.820G>C
c.945G>C (p.Gly315=)
c.993G>C (p.Gly331=)
c.990G>C (p.Gly330=)
c.957G>C (p.Gly319=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868583G=CA1428495651TP63c.996G= (p.Gly332=)
c.714G= (p.Gly238=)
c.459G= (p.Gly153=)
n.820G=
c.945G= (p.Gly315=)
c.993G= (p.Gly331=)
c.990G= (p.Gly330=)
c.957G= (p.Gly319=)
3g.189868583G>TCA437413312TP63c.996G>T (p.Gly332=)
c.714G>T (p.Gly238=)
c.459G>T (p.Gly153=)
n.820G>T
c.945G>T (p.Gly315=)
c.993G>T (p.Gly331=)
c.990G>T (p.Gly330=)
c.957G>T (p.Gly319=)
 dbSNP gnomAD v4
3g.189868584C>ACA355755099TP63c.997C>A (p.Gln333Lys)
c.715C>A (p.Gln239Lys)
c.460C>A (p.Gln154Lys)
n.821C>A
c.946C>A (p.Gln316Lys)
c.994C>A (p.Gln332Lys)
c.991C>A (p.Gln331Lys)
c.958C>A (p.Gln320Lys)
 dbSNP gnomAD v4
3g.189868584C>GCA355755101TP63c.997C>G (p.Gln333Glu)
c.715C>G (p.Gln239Glu)
c.460C>G (p.Gln154Glu)
n.821C>G
c.946C>G (p.Gln316Glu)
c.994C>G (p.Gln332Glu)
c.991C>G (p.Gln331Glu)
c.958C>G (p.Gln320Glu)
 dbSNP gnomAD v4
3g.189868584C>TCA355755100TP63c.997C>T (p.Gln333Ter)
c.715C>T (p.Gln239Ter)
c.460C>T (p.Gln154Ter)
n.821C>T
c.946C>T (p.Gln316Ter)
c.994C>T (p.Gln332Ter)
c.991C>T (p.Gln331Ter)
c.958C>T (p.Gln320Ter)
 dbSNP
3g.189868585A>CCA355755102TP63c.998A>C (p.Gln333Pro)
c.716A>C (p.Gln239Pro)
c.461A>C (p.Gln154Pro)
n.822A>C
c.947A>C (p.Gln316Pro)
c.995A>C (p.Gln332Pro)
c.992A>C (p.Gln331Pro)
c.959A>C (p.Gln320Pro)
3g.189868585A>GCA355755103TP63c.998A>G (p.Gln333Arg)
c.716A>G (p.Gln239Arg)
c.461A>G (p.Gln154Arg)
n.822A>G
c.947A>G (p.Gln316Arg)
c.995A>G (p.Gln332Arg)
c.992A>G (p.Gln331Arg)
c.959A>G (p.Gln320Arg)
3g.189868585A>TCA355755104TP63c.998A>T (p.Gln333Leu)
c.716A>T (p.Gln239Leu)
c.461A>T (p.Gln154Leu)
n.822A>T
c.947A>T (p.Gln316Leu)
c.995A>T (p.Gln332Leu)
c.992A>T (p.Gln331Leu)
c.959A>T (p.Gln320Leu)
3g.189868586A>CCA355755105TP63c.999A>C (p.Gln333His)
c.717A>C (p.Gln239His)
c.462A>C (p.Gln154His)
n.823A>C
c.948A>C (p.Gln316His)
c.996A>C (p.Gln332His)
c.993A>C (p.Gln331His)
c.960A>C (p.Gln320His)
3g.189868586A>GCA437413322TP63c.999A>G (p.Gln333=)
c.717A>G (p.Gln239=)
c.462A>G (p.Gln154=)
n.823A>G
c.948A>G (p.Gln316=)
c.996A>G (p.Gln332=)
c.993A>G (p.Gln331=)
c.960A>G (p.Gln320=)
3g.189868586A>TCA355755106TP63c.999A>T (p.Gln333His)
c.717A>T (p.Gln239His)
c.462A>T (p.Gln154His)
n.823A>T
c.948A>T (p.Gln316His)
c.996A>T (p.Gln332His)
c.993A>T (p.Gln331His)
c.960A>T (p.Gln320His)
3g.189868587G>ACA355755107TP63c.1000G>A (p.Val334Ile)
c.718G>A (p.Val240Ile)
c.463G>A (p.Val155Ile)
n.824G>A
c.949G>A (p.Val317Ile)
c.997G>A (p.Val333Ile)
c.994G>A (p.Val332Ile)
c.961G>A (p.Val321Ile)
3g.189868587G>CCA355755108TP63c.1000G>C (p.Val334Leu)
c.718G>C (p.Val240Leu)
c.463G>C (p.Val155Leu)
n.824G>C
c.949G>C (p.Val317Leu)
c.997G>C (p.Val333Leu)
c.994G>C (p.Val332Leu)
c.961G>C (p.Val321Leu)
3g.189868587G>TCA355755109TP63c.1000G>T (p.Val334Phe)
c.718G>T (p.Val240Phe)
c.463G>T (p.Val155Phe)
n.824G>T
c.949G>T (p.Val317Phe)
c.997G>T (p.Val333Phe)
c.994G>T (p.Val332Phe)
c.961G>T (p.Val321Phe)
3g.189868588T>ACA355755110TP63c.1001T>A (p.Val334Asp)
c.719T>A (p.Val240Asp)
c.464T>A (p.Val155Asp)
n.825T>A
c.950T>A (p.Val317Asp)
c.998T>A (p.Val333Asp)
c.995T>A (p.Val332Asp)
c.962T>A (p.Val321Asp)
 dbSNP
3g.189868588T>CCA355755111TP63c.1001T>C (p.Val334Ala)
c.719T>C (p.Val240Ala)
c.464T>C (p.Val155Ala)
n.825T>C
c.950T>C (p.Val317Ala)
c.998T>C (p.Val333Ala)
c.995T>C (p.Val332Ala)
c.962T>C (p.Val321Ala)
3g.189868588T>GCA355755112TP63c.1001T>G (p.Val334Gly)
c.719T>G (p.Val240Gly)
c.464T>G (p.Val155Gly)
n.825T>G
c.950T>G (p.Val317Gly)
c.998T>G (p.Val333Gly)
c.995T>G (p.Val332Gly)
c.962T>G (p.Val321Gly)
3g.189868589C>ACA2752325TP63c.1002C>A (p.Val334=)
c.720C>A (p.Val240=)
c.465C>A (p.Val155=)
n.826C>A
c.951C>A (p.Val317=)
c.999C>A (p.Val333=)
c.996C>A (p.Val332=)
c.963C>A (p.Val321=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868589C=CA1428495657TP63c.1002C= (p.Val334=)
c.720C= (p.Val240=)
c.465C= (p.Val155=)
n.826C=
c.951C= (p.Val317=)
c.999C= (p.Val333=)
c.996C= (p.Val332=)
c.963C= (p.Val321=)
3g.189868589C>GCA437413333TP63c.1002C>G (p.Val334=)
c.720C>G (p.Val240=)
c.465C>G (p.Val155=)
n.826C>G
c.951C>G (p.Val317=)
c.999C>G (p.Val333=)
c.996C>G (p.Val332=)
c.963C>G (p.Val321=)
 dbSNP
3g.189868589C>TCA437413335TP63c.1002C>T (p.Val334=)
c.720C>T (p.Val240=)
c.465C>T (p.Val155=)
n.826C>T
c.951C>T (p.Val317=)
c.999C>T (p.Val333=)
c.996C>T (p.Val332=)
c.963C>T (p.Val321=)
 dbSNP COSMIC COSMIC COSMIC
3g.189868590C>ACA355755114TP63c.1003C>A (p.Leu335Met)
c.721C>A (p.Leu241Met)
c.466C>A (p.Leu156Met)
n.827C>A
c.952C>A (p.Leu318Met)
c.1000C>A (p.Leu334Met)
c.997C>A (p.Leu333Met)
c.964C>A (p.Leu322Met)
3g.189868590C=CA1428495661TP63c.1003C= (p.Leu335=)
c.721C= (p.Leu241=)
c.466C= (p.Leu156=)
n.827C=
c.952C= (p.Leu318=)
c.1000C= (p.Leu334=)
c.997C= (p.Leu333=)
c.964C= (p.Leu322=)
3g.189868590C>GCA355755113TP63c.1003C>G (p.Leu335Val)
c.721C>G (p.Leu241Val)
c.466C>G (p.Leu156Val)
n.827C>G
c.952C>G (p.Leu318Val)
c.1000C>G (p.Leu334Val)
c.997C>G (p.Leu333Val)
c.964C>G (p.Leu322Val)
3g.189868590C>TCA437413339TP63c.1003C>T (p.Leu335=)
c.721C>T (p.Leu241=)
c.466C>T (p.Leu156=)
n.827C>T
c.952C>T (p.Leu318=)
c.1000C>T (p.Leu334=)
c.997C>T (p.Leu333=)
c.964C>T (p.Leu322=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189868591T>ACA355755115TP63c.1004T>A (p.Leu335Gln)
c.722T>A (p.Leu241Gln)
c.467T>A (p.Leu156Gln)
n.828T>A
c.953T>A (p.Leu318Gln)
c.1001T>A (p.Leu334Gln)
c.998T>A (p.Leu333Gln)
c.965T>A (p.Leu322Gln)
3g.189868591T>CCA355755116TP63c.1004T>C (p.Leu335Pro)
c.722T>C (p.Leu241Pro)
c.467T>C (p.Leu156Pro)
n.828T>C
c.953T>C (p.Leu318Pro)
c.1001T>C (p.Leu334Pro)
c.998T>C (p.Leu333Pro)
c.965T>C (p.Leu322Pro)
3g.189868591T>GCA355755117TP63c.1004T>G (p.Leu335Arg)
c.722T>G (p.Leu241Arg)
c.467T>G (p.Leu156Arg)
n.828T>G
c.953T>G (p.Leu318Arg)
c.1001T>G (p.Leu334Arg)
c.998T>G (p.Leu333Arg)
c.965T>G (p.Leu322Arg)
3g.189868592G>ACA89746598TP63c.1005G>A (p.Leu335=)
c.723G>A (p.Leu241=)
c.468G>A (p.Leu156=)
n.829G>A
c.954G>A (p.Leu318=)
c.1002G>A (p.Leu334=)
c.999G>A (p.Leu333=)
c.966G>A (p.Leu322=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.189868592G>CCA437413346TP63c.1005G>C (p.Leu335=)
c.723G>C (p.Leu241=)
c.468G>C (p.Leu156=)
n.829G>C
c.954G>C (p.Leu318=)
c.1002G>C (p.Leu334=)
c.999G>C (p.Leu333=)
c.966G>C (p.Leu322=)
3g.189868592G=CA1428495666TP63c.1005G= (p.Leu335=)
c.723G= (p.Leu241=)
c.468G= (p.Leu156=)
n.829G=
c.954G= (p.Leu318=)
c.1002G= (p.Leu334=)
c.999G= (p.Leu333=)
c.966G= (p.Leu322=)
3g.189868592G>TCA437413349TP63c.1005G>T (p.Leu335=)
c.723G>T (p.Leu241=)
c.468G>T (p.Leu156=)
n.829G>T
c.954G>T (p.Leu318=)
c.1002G>T (p.Leu334=)
c.999G>T (p.Leu333=)
c.966G>T (p.Leu322=)
3g.189868593G>ACA89746609TP63c.1006G>A (p.Gly336Ser)
c.724G>A (p.Gly242Ser)
c.469G>A (p.Gly157Ser)
n.830G>A
c.955G>A (p.Gly319Ser)
c.1003G>A (p.Gly335Ser)
c.1000G>A (p.Gly334Ser)
c.967G>A (p.Gly323Ser)
 dbSNP
3g.189868593G>CCA355755118TP63c.1006G>C (p.Gly336Arg)
c.724G>C (p.Gly242Arg)
c.469G>C (p.Gly157Arg)
n.830G>C
c.955G>C (p.Gly319Arg)
c.1003G>C (p.Gly335Arg)
c.1000G>C (p.Gly334Arg)
c.967G>C (p.Gly323Arg)
3g.189868593G=CA1428495669TP63c.1006G= (p.Gly336=)
c.724G= (p.Gly242=)
c.469G= (p.Gly157=)
n.830G=
c.955G= (p.Gly319=)
c.1003G= (p.Gly335=)
c.1000G= (p.Gly334=)
c.967G= (p.Gly323=)
3g.189868593G>TCA355755119TP63c.1006G>T (p.Gly336Cys)
c.724G>T (p.Gly242Cys)
c.469G>T (p.Gly157Cys)
n.830G>T
c.955G>T (p.Gly319Cys)
c.1003G>T (p.Gly335Cys)
c.1000G>T (p.Gly334Cys)
c.967G>T (p.Gly323Cys)
3g.189868594G>ACA355755120TP63c.1007G>A (p.Gly336Asp)
c.725G>A (p.Gly242Asp)
c.470G>A (p.Gly157Asp)
n.831G>A
c.956G>A (p.Gly319Asp)
c.1004G>A (p.Gly335Asp)
c.1001G>A (p.Gly334Asp)
c.968G>A (p.Gly323Asp)
 ClinVar dbSNP
3g.189868594G>CCA355755121TP63c.1007G>C (p.Gly336Ala)
c.725G>C (p.Gly242Ala)
c.470G>C (p.Gly157Ala)
n.831G>C
c.956G>C (p.Gly319Ala)
c.1004G>C (p.Gly335Ala)
c.1001G>C (p.Gly334Ala)
c.968G>C (p.Gly323Ala)
 dbSNP
3g.189868594G>TCA355755122TP63c.1007G>T (p.Gly336Val)
c.725G>T (p.Gly242Val)
c.470G>T (p.Gly157Val)
n.831G>T
c.956G>T (p.Gly319Val)
c.1004G>T (p.Gly335Val)
c.1001G>T (p.Gly334Val)
c.968G>T (p.Gly323Val)
3g.189868595C>ACA437413358TP63c.1008C>A (p.Gly336=)
c.726C>A (p.Gly242=)
c.471C>A (p.Gly157=)
n.832C>A
c.957C>A (p.Gly319=)
c.1005C>A (p.Gly335=)
c.1002C>A (p.Gly334=)
c.969C>A (p.Gly323=)
 dbSNP
3g.189868595C>GCA437413360TP63c.1008C>G (p.Gly336=)
c.726C>G (p.Gly242=)
c.471C>G (p.Gly157=)
n.832C>G
c.957C>G (p.Gly319=)
c.1005C>G (p.Gly335=)
c.1002C>G (p.Gly334=)
c.969C>G (p.Gly323=)
 dbSNP
3g.189868595C>TCA437413362TP63c.1008C>T (p.Gly336=)
c.726C>T (p.Gly242=)
c.471C>T (p.Gly157=)
n.832C>T
c.957C>T (p.Gly319=)
c.1005C>T (p.Gly335=)
c.1002C>T (p.Gly334=)
c.969C>T (p.Gly323=)
 dbSNP gnomAD v4
3g.189868596C>ACA437413365TP63c.1009C>A (p.Arg337=)
c.727C>A (p.Arg243=)
c.472C>A (p.Arg158=)
n.833C>A
c.958C>A (p.Arg320=)
c.1006C>A (p.Arg336=)
c.1003C>A (p.Arg335=)
c.970C>A (p.Arg324=)
 dbSNP
3g.189868596C=CA1428495674TP63c.1009C= (p.Arg337=)
c.727C= (p.Arg243=)
c.472C= (p.Arg158=)
n.833C=
c.958C= (p.Arg320=)
c.1006C= (p.Arg336=)
c.1003C= (p.Arg335=)
c.970C= (p.Arg324=)
3g.189868596C>GCA340600TP63c.1009C>G (p.Arg337Gly)
c.727C>G (p.Arg243Gly)
c.472C>G (p.Arg158Gly)
n.833C>G
c.958C>G (p.Arg320Gly)
c.1006C>G (p.Arg336Gly)
c.1003C>G (p.Arg335Gly)
c.970C>G (p.Arg324Gly)
 ClinVar dbSNP
3g.189868596C>TCA355755123TP63c.1009C>T (p.Arg337Ter)
c.727C>T (p.Arg243Ter)
c.472C>T (p.Arg158Ter)
n.833C>T
c.958C>T (p.Arg320Ter)
c.1006C>T (p.Arg336Ter)
c.1003C>T (p.Arg335Ter)
c.970C>T (p.Arg324Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC
3g.189868597G>ACA340599TP63c.1010G>A (p.Arg337Gln)
c.728G>A (p.Arg243Gln)
c.473G>A (p.Arg158Gln)
n.834G>A
c.959G>A (p.Arg320Gln)
c.1007G>A (p.Arg336Gln)
c.1004G>A (p.Arg335Gln)
c.971G>A (p.Arg324Gln)
 ClinVar dbSNP COSMIC
3g.189868597G>CCA355755125TP63c.1010G>C (p.Arg337Pro)
c.728G>C (p.Arg243Pro)
c.473G>C (p.Arg158Pro)
n.834G>C
c.959G>C (p.Arg320Pro)
c.1007G>C (p.Arg336Pro)
c.1004G>C (p.Arg335Pro)
c.971G>C (p.Arg324Pro)
 dbSNP
3g.189868597G=CA1428495687TP63c.1010G= (p.Arg337=)
c.728G= (p.Arg243=)
c.473G= (p.Arg158=)
n.834G=
c.959G= (p.Arg320=)
c.1007G= (p.Arg336=)
c.1004G= (p.Arg335=)
c.971G= (p.Arg324=)
3g.189868597G>TCA355755124TP63c.1010G>T (p.Arg337Leu)
c.728G>T (p.Arg243Leu)
c.473G>T (p.Arg158Leu)
n.834G>T
c.959G>T (p.Arg320Leu)
c.1007G>T (p.Arg336Leu)
c.1004G>T (p.Arg335Leu)
c.971G>T (p.Arg324Leu)
 COSMIC COSMIC
3g.189868598A=CA1428495698TP63c.1011A= (p.Arg337=)
c.729A= (p.Arg243=)
c.474A= (p.Arg158=)
n.835A=
c.960A= (p.Arg320=)
c.1008A= (p.Arg336=)
c.1005A= (p.Arg335=)
c.972A= (p.Arg324=)
3g.189868598A>CCA437413374TP63c.1011A>C (p.Arg337=)
c.729A>C (p.Arg243=)
c.474A>C (p.Arg158=)
n.835A>C
c.960A>C (p.Arg320=)
c.1008A>C (p.Arg336=)
c.1005A>C (p.Arg335=)
c.972A>C (p.Arg324=)
3g.189868598A>GCA2752326TP63c.1011A>G (p.Arg337=)
c.729A>G (p.Arg243=)
c.474A>G (p.Arg158=)
n.835A>G
c.960A>G (p.Arg320=)
c.1008A>G (p.Arg336=)
c.1005A>G (p.Arg335=)
c.972A>G (p.Arg324=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868598A>TCA437413377TP63c.1011A>T (p.Arg337=)
c.729A>T (p.Arg243=)
c.474A>T (p.Arg158=)
n.835A>T
c.960A>T (p.Arg320=)
c.1008A>T (p.Arg336=)
c.1005A>T (p.Arg335=)
c.972A>T (p.Arg324=)
 dbSNP
3g.189868599C>ACA355755126TP63c.1012C>A (p.Arg338Ser)
c.730C>A (p.Arg244Ser)
c.475C>A (p.Arg159Ser)
n.836C>A
c.961C>A (p.Arg321Ser)
c.1009C>A (p.Arg337Ser)
c.1006C>A (p.Arg336Ser)
c.973C>A (p.Arg325Ser)
3g.189868599C=CA1428495705TP63c.1012C= (p.Arg338=)
c.730C= (p.Arg244=)
c.475C= (p.Arg159=)
n.836C=
c.961C= (p.Arg321=)
c.1009C= (p.Arg337=)
c.1006C= (p.Arg336=)
c.973C= (p.Arg325=)
3g.189868599C>GCA355755127TP63c.1012C>G (p.Arg338Gly)
c.730C>G (p.Arg244Gly)
c.475C>G (p.Arg159Gly)
n.836C>G
c.961C>G (p.Arg321Gly)
c.1009C>G (p.Arg337Gly)
c.1006C>G (p.Arg336Gly)
c.973C>G (p.Arg325Gly)
 dbSNP
3g.189868599C>TCA355755128TP63c.1012C>T (p.Arg338Cys)
c.730C>T (p.Arg244Cys)
c.475C>T (p.Arg159Cys)
n.836C>T
c.961C>T (p.Arg321Cys)
c.1009C>T (p.Arg337Cys)
c.1006C>T (p.Arg336Cys)
c.973C>T (p.Arg325Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.189868600G>ACA89746661TP63c.1013G>A (p.Arg338His)
c.731G>A (p.Arg244His)
c.476G>A (p.Arg159His)
n.837G>A
c.962G>A (p.Arg321His)
c.1010G>A (p.Arg337His)
c.1007G>A (p.Arg336His)
c.974G>A (p.Arg325His)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
3g.189868600G>CCA355755129TP63c.1013G>C (p.Arg338Pro)
c.731G>C (p.Arg244Pro)
c.476G>C (p.Arg159Pro)
n.837G>C
c.962G>C (p.Arg321Pro)
c.1010G>C (p.Arg337Pro)
c.1007G>C (p.Arg336Pro)
c.974G>C (p.Arg325Pro)
 dbSNP
3g.189868600G=CA1428495715TP63c.1013G= (p.Arg338=)
c.731G= (p.Arg244=)
c.476G= (p.Arg159=)
n.837G=
c.962G= (p.Arg321=)
c.1010G= (p.Arg337=)
c.1007G= (p.Arg336=)
c.974G= (p.Arg325=)
3g.189868600G>TCA355755130TP63c.1013G>T (p.Arg338Leu)
c.731G>T (p.Arg244Leu)
c.476G>T (p.Arg159Leu)
n.837G>T
c.962G>T (p.Arg321Leu)
c.1010G>T (p.Arg337Leu)
c.1007G>T (p.Arg336Leu)
c.974G>T (p.Arg325Leu)
3g.189868601C>ACA437413386TP63c.1014C>A (p.Arg338=)
c.732C>A (p.Arg244=)
c.477C>A (p.Arg159=)
n.838C>A
c.963C>A (p.Arg321=)
c.1011C>A (p.Arg337=)
c.1008C>A (p.Arg336=)
c.975C>A (p.Arg325=)
3g.189868601C=CA1428495724TP63c.1014C= (p.Arg338=)
c.732C= (p.Arg244=)
c.477C= (p.Arg159=)
n.838C=
c.963C= (p.Arg321=)
c.1011C= (p.Arg337=)
c.1008C= (p.Arg336=)
c.975C= (p.Arg325=)
3g.189868601C>GCA437413388TP63c.1014C>G (p.Arg338=)
c.732C>G (p.Arg244=)
c.477C>G (p.Arg159=)
n.838C>G
c.963C>G (p.Arg321=)
c.1011C>G (p.Arg337=)
c.1008C>G (p.Arg336=)
c.975C>G (p.Arg325=)
 dbSNP
3g.189868601C>TCA437413391TP63c.1014C>T (p.Arg338=)
c.732C>T (p.Arg244=)
c.477C>T (p.Arg159=)
n.838C>T
c.963C>T (p.Arg321=)
c.1011C>T (p.Arg337=)
c.1008C>T (p.Arg336=)
c.975C>T (p.Arg325=)
 dbSNP
3g.189868602T>ACA355755131TP63c.1015T>A (p.Cys339Ser)
c.733T>A (p.Cys245Ser)
c.478T>A (p.Cys160Ser)
n.839T>A
c.964T>A (p.Cys322Ser)
c.1012T>A (p.Cys338Ser)
c.1009T>A (p.Cys337Ser)
c.976T>A (p.Cys326Ser)
 gnomAD v4
3g.189868602T>CCA355755132TP63c.1015T>C (p.Cys339Arg)
c.733T>C (p.Cys245Arg)
c.478T>C (p.Cys160Arg)
n.839T>C
c.964T>C (p.Cys322Arg)
c.1012T>C (p.Cys338Arg)
c.1009T>C (p.Cys337Arg)
c.976T>C (p.Cys326Arg)
 COSMIC COSMIC COSMIC
3g.189868602T>GCA355755133TP63c.1015T>G (p.Cys339Gly)
c.733T>G (p.Cys245Gly)
c.478T>G (p.Cys160Gly)
n.839T>G
c.964T>G (p.Cys322Gly)
c.1012T>G (p.Cys338Gly)
c.1009T>G (p.Cys337Gly)
c.976T>G (p.Cys326Gly)
3g.189868603G>ACA355755134TP63c.1016G>A (p.Cys339Tyr)
c.734G>A (p.Cys245Tyr)
c.479G>A (p.Cys160Tyr)
n.840G>A
c.965G>A (p.Cys322Tyr)
c.1013G>A (p.Cys338Tyr)
c.1010G>A (p.Cys337Tyr)
c.977G>A (p.Cys326Tyr)
 dbSNP
3g.189868603G>CCA355755135TP63c.1016G>C (p.Cys339Ser)
c.734G>C (p.Cys245Ser)
c.479G>C (p.Cys160Ser)
n.840G>C
c.965G>C (p.Cys322Ser)
c.1013G>C (p.Cys338Ser)
c.1010G>C (p.Cys337Ser)
c.977G>C (p.Cys326Ser)
3g.189868603G=CA1428495726TP63c.1016G= (p.Cys339=)
c.734G= (p.Cys245=)
c.479G= (p.Cys160=)
n.840G=
c.965G= (p.Cys322=)
c.1013G= (p.Cys338=)
c.1010G= (p.Cys337=)
c.977G= (p.Cys326=)
3g.189868603G>TCA355755136TP63c.1016G>T (p.Cys339Phe)
c.734G>T (p.Cys245Phe)
c.479G>T (p.Cys160Phe)
n.840G>T
c.965G>T (p.Cys322Phe)
c.1013G>T (p.Cys338Phe)
c.1010G>T (p.Cys337Phe)
c.977G>T (p.Cys326Phe)
 COSMIC
3g.189868604C>ACA355755137TP63c.1017C>A (p.Cys339Ter)
c.735C>A (p.Cys245Ter)
c.480C>A (p.Cys160Ter)
n.841C>A
c.966C>A (p.Cys322Ter)
c.1014C>A (p.Cys338Ter)
c.1011C>A (p.Cys337Ter)
c.978C>A (p.Cys326Ter)
3g.189868604C=CA1428495731TP63c.1017C= (p.Cys339=)
c.735C= (p.Cys245=)
c.480C= (p.Cys160=)
n.841C=
c.966C= (p.Cys322=)
c.1014C= (p.Cys338=)
c.1011C= (p.Cys337=)
c.978C= (p.Cys326=)
3g.189868604C>GCA355755138TP63c.1017C>G (p.Cys339Trp)
c.735C>G (p.Cys245Trp)
c.480C>G (p.Cys160Trp)
n.841C>G
c.966C>G (p.Cys322Trp)
c.1014C>G (p.Cys338Trp)
c.1011C>G (p.Cys337Trp)
c.978C>G (p.Cys326Trp)
3g.189868604C>TCA437413398TP63c.1017C>T (p.Cys339=)
c.735C>T (p.Cys245=)
c.480C>T (p.Cys160=)
n.841C>T
c.966C>T (p.Cys322=)
c.1014C>T (p.Cys338=)
c.1011C>T (p.Cys337=)
c.978C>T (p.Cys326=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189868605T>ACA355755139TP63c.1018T>A (p.Phe340Ile)
c.736T>A (p.Phe246Ile)
c.481T>A (p.Phe161Ile)
n.842T>A
c.967T>A (p.Phe323Ile)
c.1015T>A (p.Phe339Ile)
c.1012T>A (p.Phe338Ile)
c.979T>A (p.Phe327Ile)
3g.189868605T>CCA2752327TP63c.1018T>C (p.Phe340Leu)
c.736T>C (p.Phe246Leu)
c.481T>C (p.Phe161Leu)
n.842T>C
c.967T>C (p.Phe323Leu)
c.1015T>C (p.Phe339Leu)
c.1012T>C (p.Phe338Leu)
c.979T>C (p.Phe327Leu)
 dbSNP ExAC gnomAD v2
3g.189868605T>GCA355755140TP63c.1018T>G (p.Phe340Val)
c.736T>G (p.Phe246Val)
c.481T>G (p.Phe161Val)
n.842T>G
c.967T>G (p.Phe323Val)
c.1015T>G (p.Phe339Val)
c.1012T>G (p.Phe338Val)
c.979T>G (p.Phe327Val)
3g.189868605T=CA1428495734TP63c.1018T= (p.Phe340=)
c.736T= (p.Phe246=)
c.481T= (p.Phe161=)
n.842T=
c.967T= (p.Phe323=)
c.1015T= (p.Phe339=)
c.1012T= (p.Phe338=)
c.979T= (p.Phe327=)
3g.189868606T>ACA355755141TP63c.1019T>A (p.Phe340Tyr)
c.737T>A (p.Phe246Tyr)
c.482T>A (p.Phe161Tyr)
n.843T>A
c.968T>A (p.Phe323Tyr)
c.1016T>A (p.Phe339Tyr)
c.1013T>A (p.Phe338Tyr)
c.980T>A (p.Phe327Tyr)
3g.189868606T>CCA355755142TP63c.1019T>C (p.Phe340Ser)
c.737T>C (p.Phe246Ser)
c.482T>C (p.Phe161Ser)
n.843T>C
c.968T>C (p.Phe323Ser)
c.1016T>C (p.Phe339Ser)
c.1013T>C (p.Phe338Ser)
c.980T>C (p.Phe327Ser)
3g.189868606T>GCA355755143TP63c.1019T>G (p.Phe340Cys)
c.737T>G (p.Phe246Cys)
c.482T>G (p.Phe161Cys)
n.843T>G
c.968T>G (p.Phe323Cys)
c.1016T>G (p.Phe339Cys)
c.1013T>G (p.Phe338Cys)
c.980T>G (p.Phe327Cys)
3g.189868607T>ACA355755144TP63c.1020T>A (p.Phe340Leu)
c.738T>A (p.Phe246Leu)
c.483T>A (p.Phe161Leu)
n.844T>A
c.969T>A (p.Phe323Leu)
c.1017T>A (p.Phe339Leu)
c.1014T>A (p.Phe338Leu)
c.981T>A (p.Phe327Leu)
3g.189868607T>CCA437413410TP63c.1020T>C (p.Phe340=)
c.738T>C (p.Phe246=)
c.483T>C (p.Phe161=)
n.844T>C
c.969T>C (p.Phe323=)
c.1017T>C (p.Phe339=)
c.1014T>C (p.Phe338=)
c.981T>C (p.Phe327=)
3g.189868607T>GCA355755145TP63c.1020T>G (p.Phe340Leu)
c.738T>G (p.Phe246Leu)
c.483T>G (p.Phe161Leu)
n.844T>G
c.969T>G (p.Phe323Leu)
c.1017T>G (p.Phe339Leu)
c.1014T>G (p.Phe338Leu)
c.981T>G (p.Phe327Leu)
3g.189868608G>ACA355755146TP63c.1021G>A (p.Glu341Lys)
c.739G>A (p.Glu247Lys)
c.484G>A (p.Glu162Lys)
n.845G>A
c.970G>A (p.Glu324Lys)
c.1018G>A (p.Glu340Lys)
c.1015G>A (p.Glu339Lys)
c.982G>A (p.Glu328Lys)
3g.189868608G>CCA355755147TP63c.1021G>C (p.Glu341Gln)
c.739G>C (p.Glu247Gln)
c.484G>C (p.Glu162Gln)
n.845G>C
c.970G>C (p.Glu324Gln)
c.1018G>C (p.Glu340Gln)
c.1015G>C (p.Glu339Gln)
c.982G>C (p.Glu328Gln)
 dbSNP
3g.189868608G>TCA355755148TP63c.1021G>T (p.Glu341Ter)
c.739G>T (p.Glu247Ter)
c.484G>T (p.Glu162Ter)
n.845G>T
c.970G>T (p.Glu324Ter)
c.1018G>T (p.Glu340Ter)
c.1015G>T (p.Glu339Ter)
c.982G>T (p.Glu328Ter)
3g.189868609A>CCA355755149TP63c.1022A>C (p.Glu341Ala)
c.740A>C (p.Glu247Ala)
c.485A>C (p.Glu162Ala)
n.846A>C
c.971A>C (p.Glu324Ala)
c.1019A>C (p.Glu340Ala)
c.1016A>C (p.Glu339Ala)
c.983A>C (p.Glu328Ala)
3g.189868609A>GCA355755150TP63c.1022A>G (p.Glu341Gly)
c.740A>G (p.Glu247Gly)
c.485A>G (p.Glu162Gly)
n.846A>G
c.971A>G (p.Glu324Gly)
c.1019A>G (p.Glu340Gly)
c.1016A>G (p.Glu339Gly)
c.983A>G (p.Glu328Gly)
3g.189868609A>TCA355755151TP63c.1022A>T (p.Glu341Val)
c.740A>T (p.Glu247Val)
c.485A>T (p.Glu162Val)
n.846A>T
c.971A>T (p.Glu324Val)
c.1019A>T (p.Glu340Val)
c.1016A>T (p.Glu339Val)
c.983A>T (p.Glu328Val)
3g.189868610G>ACA437413417TP63c.1023G>A (p.Glu341=)
c.741G>A (p.Glu247=)
c.486G>A (p.Glu162=)
n.847G>A
c.972G>A (p.Glu324=)
c.1020G>A (p.Glu340=)
c.1017G>A (p.Glu339=)
c.984G>A (p.Glu328=)
 dbSNP
3g.189868610G>CCA355755153TP63c.1023G>C (p.Glu341Asp)
c.741G>C (p.Glu247Asp)
c.486G>C (p.Glu162Asp)
n.847G>C
c.972G>C (p.Glu324Asp)
c.1020G>C (p.Glu340Asp)
c.1017G>C (p.Glu339Asp)
c.984G>C (p.Glu328Asp)
3g.189868610G>TCA355755152TP63c.1023G>T (p.Glu341Asp)
c.741G>T (p.Glu247Asp)
c.486G>T (p.Glu162Asp)
n.847G>T
c.972G>T (p.Glu324Asp)
c.1020G>T (p.Glu340Asp)
c.1017G>T (p.Glu339Asp)
c.984G>T (p.Glu328Asp)
3g.189868611G>ACA355755154TP63c.1024G>A (p.Ala342Thr)
c.742G>A (p.Ala248Thr)
c.487G>A (p.Ala163Thr)
n.848G>A
c.973G>A (p.Ala325Thr)
c.1021G>A (p.Ala341Thr)
c.1018G>A (p.Ala340Thr)
c.985G>A (p.Ala329Thr)
3g.189868611G>CCA355755155TP63c.1024G>C (p.Ala342Pro)
c.742G>C (p.Ala248Pro)
c.487G>C (p.Ala163Pro)
n.848G>C
c.973G>C (p.Ala325Pro)
c.1021G>C (p.Ala341Pro)
c.1018G>C (p.Ala340Pro)
c.985G>C (p.Ala329Pro)
 dbSNP
3g.189868611G>TCA355755156TP63c.1024G>T (p.Ala342Ser)
c.742G>T (p.Ala248Ser)
c.487G>T (p.Ala163Ser)
n.848G>T
c.973G>T (p.Ala325Ser)
c.1021G>T (p.Ala341Ser)
c.1018G>T (p.Ala340Ser)
c.985G>T (p.Ala329Ser)
3g.189868612C>ACA355755157TP63c.1025C>A (p.Ala342Asp)
c.743C>A (p.Ala248Asp)
c.488C>A (p.Ala163Asp)
n.849C>A
c.974C>A (p.Ala325Asp)
c.1022C>A (p.Ala341Asp)
c.1019C>A (p.Ala340Asp)
c.986C>A (p.Ala329Asp)
3g.189868612C>GCA355755158TP63c.1025C>G (p.Ala342Gly)
c.743C>G (p.Ala248Gly)
c.488C>G (p.Ala163Gly)
n.849C>G
c.974C>G (p.Ala325Gly)
c.1022C>G (p.Ala341Gly)
c.1019C>G (p.Ala340Gly)
c.986C>G (p.Ala329Gly)
 dbSNP gnomAD v4
3g.189868612C>TCA355755159TP63c.1025C>T (p.Ala342Val)
c.743C>T (p.Ala248Val)
c.488C>T (p.Ala163Val)
n.849C>T
c.974C>T (p.Ala325Val)
c.1022C>T (p.Ala341Val)
c.1019C>T (p.Ala340Val)
c.986C>T (p.Ala329Val)
 dbSNP
3g.189868613C>ACA437413427TP63c.1026C>A (p.Ala342=)
c.744C>A (p.Ala248=)
c.489C>A (p.Ala163=)
n.850C>A
c.975C>A (p.Ala325=)
c.1023C>A (p.Ala341=)
c.1020C>A (p.Ala340=)
c.987C>A (p.Ala329=)
3g.189868613C>GCA437413428TP63c.1026C>G (p.Ala342=)
c.744C>G (p.Ala248=)
c.489C>G (p.Ala163=)
n.850C>G
c.975C>G (p.Ala325=)
c.1023C>G (p.Ala341=)
c.1020C>G (p.Ala340=)
c.987C>G (p.Ala329=)
 dbSNP
3g.189868613C>TCA437413431TP63c.1026C>T (p.Ala342=)
c.744C>T (p.Ala248=)
c.489C>T (p.Ala163=)
n.850C>T
c.975C>T (p.Ala325=)
c.1023C>T (p.Ala341=)
c.1020C>T (p.Ala340=)
c.987C>T (p.Ala329=)
 dbSNP gnomAD v4
3g.189868614C>ACA437413433TP63c.1027C>A (p.Arg343=)
c.745C>A (p.Arg249=)
c.490C>A (p.Arg164=)
n.851C>A
c.976C>A (p.Arg326=)
c.1024C>A (p.Arg342=)
c.1021C>A (p.Arg341=)
c.988C>A (p.Arg330=)
3g.189868614C=CA1428495741TP63c.1027C= (p.Arg343=)
c.745C= (p.Arg249=)
c.490C= (p.Arg164=)
n.851C=
c.976C= (p.Arg326=)
c.1024C= (p.Arg342=)
c.1021C= (p.Arg341=)
c.988C= (p.Arg330=)
3g.189868614C>GCA355755160TP63c.1027C>G (p.Arg343Gly)
c.745C>G (p.Arg249Gly)
c.490C>G (p.Arg164Gly)
n.851C>G
c.976C>G (p.Arg326Gly)
c.1024C>G (p.Arg342Gly)
c.1021C>G (p.Arg341Gly)
c.988C>G (p.Arg330Gly)
 ClinVar dbSNP
3g.189868614C>TCA10602901TP63c.1027C>T (p.Arg343Trp)
c.745C>T (p.Arg249Trp)
c.490C>T (p.Arg164Trp)
n.851C>T
c.976C>T (p.Arg326Trp)
c.1024C>T (p.Arg342Trp)
c.1021C>T (p.Arg341Trp)
c.988C>T (p.Arg330Trp)
 ClinVar dbSNP
3g.189868615G>ACA118340TP63c.1028G>A (p.Arg343Gln)
c.746G>A (p.Arg249Gln)
c.491G>A (p.Arg164Gln)
n.852G>A
c.977G>A (p.Arg326Gln)
c.1025G>A (p.Arg342Gln)
c.1022G>A (p.Arg341Gln)
c.989G>A (p.Arg330Gln)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.189868615G>CCA355755161TP63c.1028G>C (p.Arg343Pro)
c.746G>C (p.Arg249Pro)
c.491G>C (p.Arg164Pro)
n.852G>C
c.977G>C (p.Arg326Pro)
c.1025G>C (p.Arg342Pro)
c.1022G>C (p.Arg341Pro)
c.989G>C (p.Arg330Pro)
 dbSNP
3g.189868615G=CA1428495751TP63c.1028G= (p.Arg343=)
c.746G= (p.Arg249=)
c.491G= (p.Arg164=)
n.852G=
c.977G= (p.Arg326=)
c.1025G= (p.Arg342=)
c.1022G= (p.Arg341=)
c.989G= (p.Arg330=)
3g.189868615G>TCA355755162TP63c.1028G>T (p.Arg343Leu)
c.746G>T (p.Arg249Leu)
c.491G>T (p.Arg164Leu)
n.852G>T
c.977G>T (p.Arg326Leu)
c.1025G>T (p.Arg342Leu)
c.1022G>T (p.Arg341Leu)
c.989G>T (p.Arg330Leu)
 dbSNP COSMIC COSMIC COSMIC
3g.189868616G>ACA437413441TP63c.1029G>A (p.Arg343=)
c.747G>A (p.Arg249=)
c.492G>A (p.Arg164=)
n.853G>A
c.978G>A (p.Arg326=)
c.1026G>A (p.Arg342=)
c.1023G>A (p.Arg341=)
c.990G>A (p.Arg330=)
 dbSNP gnomAD v4
3g.189868616G>CCA437413443TP63c.1029G>C (p.Arg343=)
c.747G>C (p.Arg249=)
c.492G>C (p.Arg164=)
n.853G>C
c.978G>C (p.Arg326=)
c.1026G>C (p.Arg342=)
c.1023G>C (p.Arg341=)
c.990G>C (p.Arg330=)
 dbSNP
3g.189868616G>TCA437413445TP63c.1029G>T (p.Arg343=)
c.747G>T (p.Arg249=)
c.492G>T (p.Arg164=)
n.853G>T
c.978G>T (p.Arg326=)
c.1026G>T (p.Arg342=)
c.1023G>T (p.Arg341=)
c.990G>T (p.Arg330=)
3g.189868617A>CCA355755163TP63c.1030A>C (p.Ile344Leu)
c.748A>C (p.Ile250Leu)
c.493A>C (p.Ile165Leu)
n.854A>C
c.979A>C (p.Ile327Leu)
c.1027A>C (p.Ile343Leu)
c.1024A>C (p.Ile342Leu)
c.991A>C (p.Ile331Leu)
3g.189868617A>GCA355755164TP63c.1030A>G (p.Ile344Val)
c.748A>G (p.Ile250Val)
c.493A>G (p.Ile165Val)
n.854A>G
c.979A>G (p.Ile327Val)
c.1027A>G (p.Ile343Val)
c.1024A>G (p.Ile342Val)
c.991A>G (p.Ile331Val)
3g.189868617A>TCA355755165TP63c.1030A>T (p.Ile344Phe)
c.748A>T (p.Ile250Phe)
c.493A>T (p.Ile165Phe)
n.854A>T
c.979A>T (p.Ile327Phe)
c.1027A>T (p.Ile343Phe)
c.1024A>T (p.Ile342Phe)
c.991A>T (p.Ile331Phe)
3g.189868618T>ACA355755166TP63c.1031T>A (p.Ile344Asn)
c.749T>A (p.Ile250Asn)
c.494T>A (p.Ile165Asn)
n.855T>A
c.980T>A (p.Ile327Asn)
c.1028T>A (p.Ile343Asn)
c.1025T>A (p.Ile342Asn)
c.992T>A (p.Ile331Asn)
3g.189868618T>CCA355755168TP63c.1031T>C (p.Ile344Thr)
c.749T>C (p.Ile250Thr)
c.494T>C (p.Ile165Thr)
n.855T>C
c.980T>C (p.Ile327Thr)
c.1028T>C (p.Ile343Thr)
c.1025T>C (p.Ile342Thr)
c.992T>C (p.Ile331Thr)
3g.189868618T>GCA355755167TP63c.1031T>G (p.Ile344Ser)
c.749T>G (p.Ile250Ser)
c.494T>G (p.Ile165Ser)
n.855T>G
c.980T>G (p.Ile327Ser)
c.1028T>G (p.Ile343Ser)
c.1025T>G (p.Ile342Ser)
c.992T>G (p.Ile331Ser)
3g.189868619C>ACA437413454TP63c.1032C>A (p.Ile344=)
c.750C>A (p.Ile250=)
c.495C>A (p.Ile165=)
n.856C>A
c.981C>A (p.Ile327=)
c.1029C>A (p.Ile343=)
c.1026C>A (p.Ile342=)
c.993C>A (p.Ile331=)
 COSMIC COSMIC COSMIC
3g.189868619C=CA1428495756TP63c.1032C= (p.Ile344=)
c.750C= (p.Ile250=)
c.495C= (p.Ile165=)
n.856C=
c.981C= (p.Ile327=)
c.1029C= (p.Ile343=)
c.1026C= (p.Ile342=)
c.993C= (p.Ile331=)
3g.189868619C>GCA355755169TP63c.1032C>G (p.Ile344Met)
c.750C>G (p.Ile250Met)
c.495C>G (p.Ile165Met)
n.856C>G
c.981C>G (p.Ile327Met)
c.1029C>G (p.Ile343Met)
c.1026C>G (p.Ile342Met)
c.993C>G (p.Ile331Met)
 dbSNP
3g.189868619C>TCA2752328TP63c.1032C>T (p.Ile344=)
c.750C>T (p.Ile250=)
c.495C>T (p.Ile165=)
n.856C>T
c.981C>T (p.Ile327=)
c.1029C>T (p.Ile343=)
c.1026C>T (p.Ile342=)
c.993C>T (p.Ile331=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868620T>ACA355755170TP63c.1033T>A (p.Cys345Ser)
c.751T>A (p.Cys251Ser)
c.496T>A (p.Cys166Ser)
n.857T>A
c.982T>A (p.Cys328Ser)
c.1030T>A (p.Cys344Ser)
c.1027T>A (p.Cys343Ser)
c.994T>A (p.Cys332Ser)
3g.189868620T>CCA118336TP63c.1033T>C (p.Cys345Arg)
c.751T>C (p.Cys251Arg)
c.496T>C (p.Cys166Arg)
n.857T>C
c.982T>C (p.Cys328Arg)
c.1030T>C (p.Cys344Arg)
c.1027T>C (p.Cys343Arg)
c.994T>C (p.Cys332Arg)
 ClinVar dbSNP
3g.189868620T>GCA355755171TP63c.1033T>G (p.Cys345Gly)
c.751T>G (p.Cys251Gly)
c.496T>G (p.Cys166Gly)
n.857T>G
c.982T>G (p.Cys328Gly)
c.1030T>G (p.Cys344Gly)
c.1027T>G (p.Cys343Gly)
c.994T>G (p.Cys332Gly)
3g.189868620T=CA1428495762TP63c.1033T= (p.Cys345=)
c.751T= (p.Cys251=)
c.496T= (p.Cys166=)
n.857T=
c.982T= (p.Cys328=)
c.1030T= (p.Cys344=)
c.1027T= (p.Cys343=)
c.994T= (p.Cys332=)
3g.189868621G>ACA355755172TP63c.1034G>A (p.Cys345Tyr)
c.752G>A (p.Cys251Tyr)
c.497G>A (p.Cys166Tyr)
n.858G>A
c.983G>A (p.Cys328Tyr)
c.1031G>A (p.Cys344Tyr)
c.1028G>A (p.Cys343Tyr)
c.995G>A (p.Cys332Tyr)
3g.189868621G>CCA355755173TP63c.1034G>C (p.Cys345Ser)
c.752G>C (p.Cys251Ser)
c.497G>C (p.Cys166Ser)
n.858G>C
c.983G>C (p.Cys328Ser)
c.1031G>C (p.Cys344Ser)
c.1028G>C (p.Cys343Ser)
c.995G>C (p.Cys332Ser)
 dbSNP
3g.189868621G>TCA355755174TP63c.1034G>T (p.Cys345Phe)
c.752G>T (p.Cys251Phe)
c.497G>T (p.Cys166Phe)
n.858G>T
c.983G>T (p.Cys328Phe)
c.1031G>T (p.Cys344Phe)
c.1028G>T (p.Cys343Phe)
c.995G>T (p.Cys332Phe)
 ClinVar
3g.189868622T>ACA355755175TP63c.1035T>A (p.Cys345Ter)
c.753T>A (p.Cys251Ter)
c.498T>A (p.Cys166Ter)
n.859T>A
c.984T>A (p.Cys328Ter)
c.1032T>A (p.Cys344Ter)
c.1029T>A (p.Cys343Ter)
c.996T>A (p.Cys332Ter)
 dbSNP
3g.189868622T>CCA437413464TP63c.1035T>C (p.Cys345=)
c.753T>C (p.Cys251=)
c.498T>C (p.Cys166=)
n.859T>C
c.984T>C (p.Cys328=)
c.1032T>C (p.Cys344=)
c.1029T>C (p.Cys343=)
c.996T>C (p.Cys332=)
3g.189868622T>GCA355755176TP63c.1035T>G (p.Cys345Trp)
c.753T>G (p.Cys251Trp)
c.498T>G (p.Cys166Trp)
n.859T>G
c.984T>G (p.Cys328Trp)
c.1032T>G (p.Cys344Trp)
c.1029T>G (p.Cys343Trp)
c.996T>G (p.Cys332Trp)
 dbSNP
3g.189868623G>ACA355755177TP63c.1036G>A (p.Ala346Thr)
c.754G>A (p.Ala252Thr)
c.499G>A (p.Ala167Thr)
n.860G>A
c.985G>A (p.Ala329Thr)
c.1033G>A (p.Ala345Thr)
c.1030G>A (p.Ala344Thr)
c.997G>A (p.Ala333Thr)
 dbSNP
3g.189868623G>CCA355755178TP63c.1036G>C (p.Ala346Pro)
c.754G>C (p.Ala252Pro)
c.499G>C (p.Ala167Pro)
n.860G>C
c.985G>C (p.Ala329Pro)
c.1033G>C (p.Ala345Pro)
c.1030G>C (p.Ala344Pro)
c.997G>C (p.Ala333Pro)
3g.189868623G=CA1428495771TP63c.1036G= (p.Ala346=)
c.754G= (p.Ala252=)
c.499G= (p.Ala167=)
n.860G=
c.985G= (p.Ala329=)
c.1033G= (p.Ala345=)
c.1030G= (p.Ala344=)
c.997G= (p.Ala333=)
3g.189868623G>TCA2752329TP63c.1036G>T (p.Ala346Ser)
c.754G>T (p.Ala252Ser)
c.499G>T (p.Ala167Ser)
n.860G>T
c.985G>T (p.Ala329Ser)
c.1033G>T (p.Ala345Ser)
c.1030G>T (p.Ala344Ser)
c.997G>T (p.Ala333Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868624C>ACA355755179TP63c.1037C>A (p.Ala346Asp)
c.755C>A (p.Ala252Asp)
c.500C>A (p.Ala167Asp)
n.861C>A
c.986C>A (p.Ala329Asp)
c.1034C>A (p.Ala345Asp)
c.1031C>A (p.Ala344Asp)
c.998C>A (p.Ala333Asp)
3g.189868624C=CA1428495781TP63c.1037C= (p.Ala346=)
c.755C= (p.Ala252=)
c.500C= (p.Ala167=)
n.861C=
c.986C= (p.Ala329=)
c.1034C= (p.Ala345=)
c.1031C= (p.Ala344=)
c.998C= (p.Ala333=)
3g.189868624C>GCA204448TP63c.1037C>G (p.Ala346Gly)
c.755C>G (p.Ala252Gly)
c.500C>G (p.Ala167Gly)
n.861C>G
c.986C>G (p.Ala329Gly)
c.1034C>G (p.Ala345Gly)
c.1031C>G (p.Ala344Gly)
c.998C>G (p.Ala333Gly)
 ClinVar dbSNP
3g.189868624C>TCA355755180TP63c.1037C>T (p.Ala346Val)
c.755C>T (p.Ala252Val)
c.500C>T (p.Ala167Val)
n.861C>T
c.986C>T (p.Ala329Val)
c.1034C>T (p.Ala345Val)
c.1031C>T (p.Ala344Val)
c.998C>T (p.Ala333Val)
 dbSNP
3g.189868625T>ACA437413474TP63c.1038T>A (p.Ala346=)
c.756T>A (p.Ala252=)
c.501T>A (p.Ala167=)
n.862T>A
c.987T>A (p.Ala329=)
c.1035T>A (p.Ala345=)
c.1032T>A (p.Ala344=)
c.999T>A (p.Ala333=)
3g.189868625T>CCA437413475TP63c.1038T>C (p.Ala346=)
c.756T>C (p.Ala252=)
c.501T>C (p.Ala167=)
n.862T>C
c.987T>C (p.Ala329=)
c.1035T>C (p.Ala345=)
c.1032T>C (p.Ala344=)
c.999T>C (p.Ala333=)
 gnomAD v4
3g.189868625T>GCA437413477TP63c.1038T>G (p.Ala346=)
c.756T>G (p.Ala252=)
c.501T>G (p.Ala167=)
n.862T>G
c.987T>G (p.Ala329=)
c.1035T>G (p.Ala345=)
c.1032T>G (p.Ala344=)
c.999T>G (p.Ala333=)
3g.189868626T>ACA355755181TP63c.1039T>A (p.Cys347Ser)
c.757T>A (p.Cys253Ser)
c.502T>A (p.Cys168Ser)
n.863T>A
c.988T>A (p.Cys330Ser)
c.1036T>A (p.Cys346Ser)
c.1033T>A (p.Cys345Ser)
c.1000T>A (p.Cys334Ser)
3g.189868626T>CCA355755182TP63c.1039T>C (p.Cys347Arg)
c.757T>C (p.Cys253Arg)
c.502T>C (p.Cys168Arg)
n.863T>C
c.988T>C (p.Cys330Arg)
c.1036T>C (p.Cys346Arg)
c.1033T>C (p.Cys345Arg)
c.1000T>C (p.Cys334Arg)
 ClinVar
3g.189868626T>GCA355755183TP63c.1039T>G (p.Cys347Gly)
c.757T>G (p.Cys253Gly)
c.502T>G (p.Cys168Gly)
n.863T>G
c.988T>G (p.Cys330Gly)
c.1036T>G (p.Cys346Gly)
c.1033T>G (p.Cys345Gly)
c.1000T>G (p.Cys334Gly)
3g.189868627G>ACA355755184TP63c.1040G>A (p.Cys347Tyr)
c.758G>A (p.Cys253Tyr)
c.503G>A (p.Cys168Tyr)
n.864G>A
c.989G>A (p.Cys330Tyr)
c.1037G>A (p.Cys346Tyr)
c.1034G>A (p.Cys345Tyr)
c.1001G>A (p.Cys334Tyr)
 dbSNP
3g.189868627G>CCA355755185TP63c.1040G>C (p.Cys347Ser)
c.758G>C (p.Cys253Ser)
c.503G>C (p.Cys168Ser)
n.864G>C
c.989G>C (p.Cys330Ser)
c.1037G>C (p.Cys346Ser)
c.1034G>C (p.Cys345Ser)
c.1001G>C (p.Cys334Ser)
 dbSNP
3g.189868627G=CA1428495787TP63c.1040G= (p.Cys347=)
c.758G= (p.Cys253=)
c.503G= (p.Cys168=)
n.864G=
c.989G= (p.Cys330=)
c.1037G= (p.Cys346=)
c.1034G= (p.Cys345=)
c.1001G= (p.Cys334=)
3g.189868627G>TCA16617858TP63c.1040G>T (p.Cys347Phe)
c.758G>T (p.Cys253Phe)
c.503G>T (p.Cys168Phe)
n.864G>T
c.989G>T (p.Cys330Phe)
c.1037G>T (p.Cys346Phe)
c.1034G>T (p.Cys345Phe)
c.1001G>T (p.Cys334Phe)
 ClinVar dbSNP
3g.189868628C>ACA355755186TP63c.1041C>A (p.Cys347Ter)
c.759C>A (p.Cys253Ter)
c.504C>A (p.Cys168Ter)
n.865C>A
c.990C>A (p.Cys330Ter)
c.1038C>A (p.Cys346Ter)
c.1035C>A (p.Cys345Ter)
c.1002C>A (p.Cys334Ter)
 dbSNP
3g.189868628C>GCA355755187TP63c.1041C>G (p.Cys347Trp)
c.759C>G (p.Cys253Trp)
c.504C>G (p.Cys168Trp)
n.865C>G
c.990C>G (p.Cys330Trp)
c.1038C>G (p.Cys346Trp)
c.1035C>G (p.Cys345Trp)
c.1002C>G (p.Cys334Trp)
 dbSNP
3g.189868628C>TCA437413487TP63c.1041C>T (p.Cys347=)
c.759C>T (p.Cys253=)
c.504C>T (p.Cys168=)
n.865C>T
c.990C>T (p.Cys330=)
c.1038C>T (p.Cys346=)
c.1035C>T (p.Cys345=)
c.1002C>T (p.Cys334=)
 dbSNP
3g.189868629C>ACA355755188TP63c.1042C>A (p.Pro348Thr)
c.760C>A (p.Pro254Thr)
c.505C>A (p.Pro169Thr)
n.866C>A
c.991C>A (p.Pro331Thr)
c.1039C>A (p.Pro347Thr)
c.1036C>A (p.Pro346Thr)
c.1003C>A (p.Pro335Thr)
3g.189868629C=CA1428495797TP63c.1042C= (p.Pro348=)
c.760C= (p.Pro254=)
c.505C= (p.Pro169=)
n.866C=
c.991C= (p.Pro331=)
c.1039C= (p.Pro347=)
c.1036C= (p.Pro346=)
c.1003C= (p.Pro335=)
3g.189868629C>GCA355755189TP63c.1042C>G (p.Pro348Ala)
c.760C>G (p.Pro254Ala)
c.505C>G (p.Pro169Ala)
n.866C>G
c.991C>G (p.Pro331Ala)
c.1039C>G (p.Pro347Ala)
c.1036C>G (p.Pro346Ala)
c.1003C>G (p.Pro335Ala)
 ClinVar dbSNP
3g.189868629C>TCA355755190TP63c.1042C>T (p.Pro348Ser)
c.760C>T (p.Pro254Ser)
c.505C>T (p.Pro169Ser)
n.866C>T
c.991C>T (p.Pro331Ser)
c.1039C>T (p.Pro347Ser)
c.1036C>T (p.Pro346Ser)
c.1003C>T (p.Pro335Ser)
 dbSNP
3g.189868630C>ACA355755192TP63c.1043C>A (p.Pro348Gln)
c.761C>A (p.Pro254Gln)
c.506C>A (p.Pro169Gln)
n.867C>A
c.992C>A (p.Pro331Gln)
c.1040C>A (p.Pro347Gln)
c.1037C>A (p.Pro346Gln)
c.1004C>A (p.Pro335Gln)
 dbSNP
3g.189868630C=CA1428495805TP63c.1043C= (p.Pro348=)
c.761C= (p.Pro254=)
c.506C= (p.Pro169=)
n.867C=
c.992C= (p.Pro331=)
c.1040C= (p.Pro347=)
c.1037C= (p.Pro346=)
c.1004C= (p.Pro335=)
3g.189868630C>GCA355755193TP63c.1043C>G (p.Pro348Arg)
c.761C>G (p.Pro254Arg)
c.506C>G (p.Pro169Arg)
n.867C>G
c.992C>G (p.Pro331Arg)
c.1040C>G (p.Pro347Arg)
c.1037C>G (p.Pro346Arg)
c.1004C>G (p.Pro335Arg)
 dbSNP
3g.189868630C>TCA355755191TP63c.1043C>T (p.Pro348Leu)
c.761C>T (p.Pro254Leu)
c.506C>T (p.Pro169Leu)
n.867C>T
c.992C>T (p.Pro331Leu)
c.1040C>T (p.Pro347Leu)
c.1037C>T (p.Pro346Leu)
c.1004C>T (p.Pro335Leu)
 ClinVar dbSNP
3g.189868631A=CA1428495807TP63c.1044A= (p.Pro348=)
c.762A= (p.Pro254=)
c.507A= (p.Pro169=)
n.868A=
c.993A= (p.Pro331=)
c.1041A= (p.Pro347=)
c.1038A= (p.Pro346=)
c.1005A= (p.Pro335=)
3g.189868631A>CCA437413498TP63c.1044A>C (p.Pro348=)
c.762A>C (p.Pro254=)
c.507A>C (p.Pro169=)
n.868A>C
c.993A>C (p.Pro331=)
c.1041A>C (p.Pro347=)
c.1038A>C (p.Pro346=)
c.1005A>C (p.Pro335=)
3g.189868631A>GCA2752330TP63c.1044A>G (p.Pro348=)
c.762A>G (p.Pro254=)
c.507A>G (p.Pro169=)
n.868A>G
c.993A>G (p.Pro331=)
c.1041A>G (p.Pro347=)
c.1038A>G (p.Pro346=)
c.1005A>G (p.Pro335=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868631A>TCA437413496TP63c.1044A>T (p.Pro348=)
c.762A>T (p.Pro254=)
c.507A>T (p.Pro169=)
n.868A>T
c.993A>T (p.Pro331=)
c.1041A>T (p.Pro347=)
c.1038A>T (p.Pro346=)
c.1005A>T (p.Pro335=)
 dbSNP
3g.189868632G>ACA355755194TP63c.1045G>A (p.Gly349Arg)
c.763G>A (p.Gly255Arg)
c.508G>A (p.Gly170Arg)
n.869G>A
c.994G>A (p.Gly332Arg)
c.1042G>A (p.Gly348Arg)
c.1039G>A (p.Gly347Arg)
c.1006G>A (p.Gly336Arg)
3g.189868632G>CCA355755196TP63c.1045G>C (p.Gly349Arg)
c.763G>C (p.Gly255Arg)
c.508G>C (p.Gly170Arg)
n.869G>C
c.994G>C (p.Gly332Arg)
c.1042G>C (p.Gly348Arg)
c.1039G>C (p.Gly347Arg)
c.1006G>C (p.Gly336Arg)
 dbSNP
3g.189868632G>TCA355755195TP63c.1045G>T (p.Gly349Ter)
c.763G>T (p.Gly255Ter)
c.508G>T (p.Gly170Ter)
n.869G>T
c.994G>T (p.Gly332Ter)
c.1042G>T (p.Gly348Ter)
c.1039G>T (p.Gly347Ter)
c.1006G>T (p.Gly336Ter)
 dbSNP
3g.189868633G>ACA89746706TP63c.1046G>A (p.Gly349Glu)
c.764G>A (p.Gly255Glu)
c.509G>A (p.Gly170Glu)
n.870G>A
c.995G>A (p.Gly332Glu)
c.1043G>A (p.Gly348Glu)
c.1040G>A (p.Gly347Glu)
c.1007G>A (p.Gly336Glu)
 dbSNP COSMIC COSMIC COSMIC
3g.189868633G>CCA355755198TP63c.1046G>C (p.Gly349Ala)
c.764G>C (p.Gly255Ala)
c.509G>C (p.Gly170Ala)
n.870G>C
c.995G>C (p.Gly332Ala)
c.1043G>C (p.Gly348Ala)
c.1040G>C (p.Gly347Ala)
c.1007G>C (p.Gly336Ala)
 dbSNP COSMIC COSMIC COSMIC
3g.189868633G=CA1428495813TP63c.1046G= (p.Gly349=)
c.764G= (p.Gly255=)
c.509G= (p.Gly170=)
n.870G=
c.995G= (p.Gly332=)
c.1043G= (p.Gly348=)
c.1040G= (p.Gly347=)
c.1007G= (p.Gly336=)
3g.189868633G>TCA355755197TP63c.1046G>T (p.Gly349Val)
c.764G>T (p.Gly255Val)
c.509G>T (p.Gly170Val)
n.870G>T
c.995G>T (p.Gly332Val)
c.1043G>T (p.Gly348Val)
c.1040G>T (p.Gly347Val)
c.1007G>T (p.Gly336Val)
3g.189868634A>CCA437413507TP63c.1047A>C (p.Gly349=)
c.765A>C (p.Gly255=)
c.510A>C (p.Gly170=)
n.871A>C
c.996A>C (p.Gly332=)
c.1044A>C (p.Gly348=)
c.1041A>C (p.Gly347=)
c.1008A>C (p.Gly336=)
3g.189868634A>GCA437413509TP63c.1047A>G (p.Gly349=)
c.765A>G (p.Gly255=)
c.510A>G (p.Gly170=)
n.871A>G
c.996A>G (p.Gly332=)
c.1044A>G (p.Gly348=)
c.1041A>G (p.Gly347=)
c.1008A>G (p.Gly336=)
3g.189868634A>TCA437413511TP63c.1047A>T (p.Gly349=)
c.765A>T (p.Gly255=)
c.510A>T (p.Gly170=)
n.871A>T
c.996A>T (p.Gly332=)
c.1044A>T (p.Gly348=)
c.1041A>T (p.Gly347=)
c.1008A>T (p.Gly336=)
3g.189868635A=CA1428495825TP63c.1048A= (p.Arg350=)
c.766A= (p.Arg256=)
c.511A= (p.Arg171=)
n.872A=
c.997A= (p.Arg333=)
c.1045A= (p.Arg349=)
c.1042A= (p.Arg348=)
c.1009A= (p.Arg337=)
3g.189868635A>CCA437413513TP63c.1048A>C (p.Arg350=)
c.766A>C (p.Arg256=)
c.511A>C (p.Arg171=)
n.872A>C
c.997A>C (p.Arg333=)
c.1045A>C (p.Arg349=)
c.1042A>C (p.Arg348=)
c.1009A>C (p.Arg337=)
3g.189868635A>GCA16042468TP63c.1048A>G (p.Arg350Gly)
c.766A>G (p.Arg256Gly)
c.511A>G (p.Arg171Gly)
n.872A>G
c.997A>G (p.Arg333Gly)
c.1045A>G (p.Arg349Gly)
c.1042A>G (p.Arg348Gly)
c.1009A>G (p.Arg337Gly)
 ClinVar dbSNP
3g.189868635A>TCA355755199TP63c.1048A>T (p.Arg350Ter)
c.766A>T (p.Arg256Ter)
c.511A>T (p.Arg171Ter)
n.872A>T
c.997A>T (p.Arg333Ter)
c.1045A>T (p.Arg349Ter)
c.1042A>T (p.Arg348Ter)
c.1009A>T (p.Arg337Ter)
 dbSNP
3g.189868636G>ACA355755200TP63c.1049G>A (p.Arg350Lys)
c.767G>A (p.Arg256Lys)
c.512G>A (p.Arg171Lys)
n.873G>A
c.998G>A (p.Arg333Lys)
c.1046G>A (p.Arg349Lys)
c.1043G>A (p.Arg348Lys)
c.1010G>A (p.Arg337Lys)
 dbSNP COSMIC COSMIC COSMIC
3g.189868636G>CCA355755202TP63c.1049G>C (p.Arg350Thr)
c.767G>C (p.Arg256Thr)
c.512G>C (p.Arg171Thr)
n.873G>C
c.998G>C (p.Arg333Thr)
c.1046G>C (p.Arg349Thr)
c.1043G>C (p.Arg348Thr)
c.1010G>C (p.Arg337Thr)
 dbSNP COSMIC COSMIC COSMIC
3g.189868636G>TCA355755201TP63c.1049G>T (p.Arg350Ile)
c.767G>T (p.Arg256Ile)
c.512G>T (p.Arg171Ile)
n.873G>T
c.998G>T (p.Arg333Ile)
c.1046G>T (p.Arg349Ile)
c.1043G>T (p.Arg348Ile)
c.1010G>T (p.Arg337Ile)
 COSMIC COSMIC COSMIC
3g.189868637A>CCA355755203TP63c.1050A>C (p.Arg350Ser)
c.768A>C (p.Arg256Ser)
c.513A>C (p.Arg171Ser)
n.874A>C
c.999A>C (p.Arg333Ser)
c.1047A>C (p.Arg349Ser)
c.1044A>C (p.Arg348Ser)
c.1011A>C (p.Arg337Ser)
3g.189868637A>GCA437413521TP63c.1050A>G (p.Arg350=)
c.768A>G (p.Arg256=)
c.513A>G (p.Arg171=)
n.874A>G
c.999A>G (p.Arg333=)
c.1047A>G (p.Arg349=)
c.1044A>G (p.Arg348=)
c.1011A>G (p.Arg337=)
3g.189868637A>TCA355755204TP63c.1050A>T (p.Arg350Ser)
c.768A>T (p.Arg256Ser)
c.513A>T (p.Arg171Ser)
n.874A>T
c.999A>T (p.Arg333Ser)
c.1047A>T (p.Arg349Ser)
c.1044A>T (p.Arg348Ser)
c.1011A>T (p.Arg337Ser)
 ClinVar dbSNP
3g.189868638G>ACA355755205TP63c.1051G>A (p.Asp351Asn)
c.769G>A (p.Asp257Asn)
c.514G>A (p.Asp172Asn)
n.875G>A
c.1000G>A (p.Asp334Asn)
c.1048G>A (p.Asp350Asn)
c.1045G>A (p.Asp349Asn)
c.1012G>A (p.Asp338Asn)
3g.189868638G>CCA355755206TP63c.1051G>C (p.Asp351His)
c.769G>C (p.Asp257His)
c.514G>C (p.Asp172His)
n.875G>C
c.1000G>C (p.Asp334His)
c.1048G>C (p.Asp350His)
c.1045G>C (p.Asp349His)
c.1012G>C (p.Asp338His)
 dbSNP
3g.189868638G>TCA355755207TP63c.1051G>T (p.Asp351Tyr)
c.769G>T (p.Asp257Tyr)
c.514G>T (p.Asp172Tyr)
n.875G>T
c.1000G>T (p.Asp334Tyr)
c.1048G>T (p.Asp350Tyr)
c.1045G>T (p.Asp349Tyr)
c.1012G>T (p.Asp338Tyr)
3g.189868639A=CA1428495839TP63c.1052A= (p.Asp351=)
c.770A= (p.Asp257=)
c.515A= (p.Asp172=)
n.876A=
c.1001A= (p.Asp334=)
c.1049A= (p.Asp350=)
c.1046A= (p.Asp349=)
c.1013A= (p.Asp338=)
3g.189868639A>CCA355755208TP63c.1052A>C (p.Asp351Ala)
c.770A>C (p.Asp257Ala)
c.515A>C (p.Asp172Ala)
n.876A>C
c.1001A>C (p.Asp334Ala)
c.1049A>C (p.Asp350Ala)
c.1046A>C (p.Asp349Ala)
c.1013A>C (p.Asp338Ala)
3g.189868639A>GCA118341TP63c.1052A>G (p.Asp351Gly)
c.770A>G (p.Asp257Gly)
c.515A>G (p.Asp172Gly)
n.876A>G
c.1001A>G (p.Asp334Gly)
c.1049A>G (p.Asp350Gly)
c.1046A>G (p.Asp349Gly)
c.1013A>G (p.Asp338Gly)
 ClinVar dbSNP
3g.189868639A>TCA355755209TP63c.1052A>T (p.Asp351Val)
c.770A>T (p.Asp257Val)
c.515A>T (p.Asp172Val)
n.876A>T
c.1001A>T (p.Asp334Val)
c.1049A>T (p.Asp350Val)
c.1046A>T (p.Asp349Val)
c.1013A>T (p.Asp338Val)
 dbSNP
3g.189868640C>ACA355755210TP63c.1053C>A (p.Asp351Glu)
c.771C>A (p.Asp257Glu)
c.516C>A (p.Asp172Glu)
n.877C>A
c.1002C>A (p.Asp334Glu)
c.1050C>A (p.Asp350Glu)
c.1047C>A (p.Asp349Glu)
c.1014C>A (p.Asp338Glu)
3g.189868640C>GCA355755211TP63c.1053C>G (p.Asp351Glu)
c.771C>G (p.Asp257Glu)
c.516C>G (p.Asp172Glu)
n.877C>G
c.1002C>G (p.Asp334Glu)
c.1050C>G (p.Asp350Glu)
c.1047C>G (p.Asp349Glu)
c.1014C>G (p.Asp338Glu)
 dbSNP
3g.189868640C>TCA437413530TP63c.1053C>T (p.Asp351=)
c.771C>T (p.Asp257=)
c.516C>T (p.Asp172=)
n.877C>T
c.1002C>T (p.Asp334=)
c.1050C>T (p.Asp350=)
c.1047C>T (p.Asp349=)
c.1014C>T (p.Asp338=)
 dbSNP gnomAD v4
3g.189868641A=CA1428495849TP63c.1054A= (p.Arg352=)
c.772A= (p.Arg258=)
c.517A= (p.Arg173=)
n.878A=
c.1003A= (p.Arg335=)
c.1051A= (p.Arg351=)
c.1048A= (p.Arg350=)
c.1015A= (p.Arg339=)
3g.189868641A>CCA437413531TP63c.1054A>C (p.Arg352=)
c.772A>C (p.Arg258=)
c.517A>C (p.Arg173=)
n.878A>C
c.1003A>C (p.Arg335=)
c.1051A>C (p.Arg351=)
c.1048A>C (p.Arg350=)
c.1015A>C (p.Arg339=)
3g.189868641A>GCA118344TP63c.1054A>G (p.Arg352Gly)
c.772A>G (p.Arg258Gly)
c.517A>G (p.Arg173Gly)
n.878A>G
c.1003A>G (p.Arg335Gly)
c.1051A>G (p.Arg351Gly)
c.1048A>G (p.Arg350Gly)
c.1015A>G (p.Arg339Gly)
 ClinVar dbSNP
3g.189868641A>TCA355755212TP63c.1054A>T (p.Arg352Trp)
c.772A>T (p.Arg258Trp)
c.517A>T (p.Arg173Trp)
n.878A>T
c.1003A>T (p.Arg335Trp)
c.1051A>T (p.Arg351Trp)
c.1048A>T (p.Arg350Trp)
c.1015A>T (p.Arg339Trp)
 dbSNP
3g.189868642G>ACA2752331TP63c.1055G>A (p.Arg352Lys)
c.773G>A (p.Arg258Lys)
c.518G>A (p.Arg173Lys)
n.879G>A
c.1004G>A (p.Arg335Lys)
c.1052G>A (p.Arg351Lys)
c.1049G>A (p.Arg350Lys)
c.1016G>A (p.Arg339Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189868642G>CCA355755213TP63c.1055G>C (p.Arg352Thr)
c.773G>C (p.Arg258Thr)
c.518G>C (p.Arg173Thr)
n.879G>C
c.1004G>C (p.Arg335Thr)
c.1052G>C (p.Arg351Thr)
c.1049G>C (p.Arg350Thr)
c.1016G>C (p.Arg339Thr)
 dbSNP
3g.189868642G=CA1428495858TP63c.1055G= (p.Arg352=)
c.773G= (p.Arg258=)
c.518G= (p.Arg173=)
n.879G=
c.1004G= (p.Arg335=)
c.1052G= (p.Arg351=)
c.1049G= (p.Arg350=)
c.1016G= (p.Arg339=)
3g.189868642G>TCA355755214TP63c.1055G>T (p.Arg352Met)
c.773G>T (p.Arg258Met)
c.518G>T (p.Arg173Met)
n.879G>T
c.1004G>T (p.Arg335Met)
c.1052G>T (p.Arg351Met)
c.1049G>T (p.Arg350Met)
c.1016G>T (p.Arg339Met)
3g.189868643G>ACA437413540TP63c.1056G>A (p.Arg352=)
c.774G>A (p.Arg258=)
c.519G>A (p.Arg173=)
n.880G>A
c.1005G>A (p.Arg335=)
c.1053G>A (p.Arg351=)
c.1050G>A (p.Arg350=)
c.1017G>A (p.Arg339=)
 dbSNP
3g.189868643G>CCA355755215TP63c.1056G>C (p.Arg352Ser)
c.774G>C (p.Arg258Ser)
c.519G>C (p.Arg173Ser)
n.880G>C
c.1005G>C (p.Arg335Ser)
c.1053G>C (p.Arg351Ser)
c.1050G>C (p.Arg350Ser)
c.1017G>C (p.Arg339Ser)
 dbSNP
3g.189868643G>TCA355755216TP63c.1056G>T (p.Arg352Ser)
c.774G>T (p.Arg258Ser)
c.519G>T (p.Arg173Ser)
n.880G>T
c.1005G>T (p.Arg335Ser)
c.1053G>T (p.Arg351Ser)
c.1050G>T (p.Arg350Ser)
c.1017G>T (p.Arg339Ser)
3g.189868644A>CCA355755217TP63c.1057A>C (p.Lys353Gln)
c.775A>C (p.Lys259Gln)
c.520A>C (p.Lys174Gln)
n.881A>C
c.1006A>C (p.Lys336Gln)
c.1054A>C (p.Lys352Gln)
c.1051A>C (p.Lys351Gln)
c.1018A>C (p.Lys340Gln)
3g.189868644A>GCA355755218TP63c.1057A>G (p.Lys353Glu)
c.775A>G (p.Lys259Glu)
c.520A>G (p.Lys174Glu)
n.881A>G
c.1006A>G (p.Lys336Glu)
c.1054A>G (p.Lys352Glu)
c.1051A>G (p.Lys351Glu)
c.1018A>G (p.Lys340Glu)
3g.189868644A>TCA355755219TP63c.1057A>T (p.Lys353Ter)
c.775A>T (p.Lys259Ter)
c.520A>T (p.Lys174Ter)
n.881A>T
c.1006A>T (p.Lys336Ter)
c.1054A>T (p.Lys352Ter)
c.1051A>T (p.Lys351Ter)
c.1018A>T (p.Lys340Ter)
 dbSNP
3g.189868645A>CCA355755220TP63c.1058A>C (p.Lys353Thr)
c.776A>C (p.Lys259Thr)
c.521A>C (p.Lys174Thr)
n.882A>C
c.1007A>C (p.Lys336Thr)
c.1055A>C (p.Lys352Thr)
c.1052A>C (p.Lys351Thr)
c.1019A>C (p.Lys340Thr)
3g.189868645A>GCA355755221TP63c.1058A>G (p.Lys353Arg)
c.776A>G (p.Lys259Arg)
c.521A>G (p.Lys174Arg)
n.882A>G
c.1007A>G (p.Lys336Arg)
c.1055A>G (p.Lys352Arg)
c.1052A>G (p.Lys351Arg)
c.1019A>G (p.Lys340Arg)
3g.189868645A>TCA355755222TP63c.1058A>T (p.Lys353Met)
c.776A>T (p.Lys259Met)
c.521A>T (p.Lys174Met)
n.882A>T
c.1007A>T (p.Lys336Met)
c.1055A>T (p.Lys352Met)
c.1052A>T (p.Lys351Met)
c.1019A>T (p.Lys340Met)
 dbSNP
3g.189868646G>ACA437413549TP63c.1059G>A (p.Lys353=)
c.777G>A (p.Lys259=)
c.522G>A (p.Lys174=)
n.883G>A
c.1008G>A (p.Lys336=)
c.1056G>A (p.Lys352=)
c.1053G>A (p.Lys351=)
c.1020G>A (p.Lys340=)
 dbSNP
3g.189868646G>CCA355755223TP63c.1059G>C (p.Lys353Asn)
c.777G>C (p.Lys259Asn)
c.522G>C (p.Lys174Asn)
n.883G>C
c.1008G>C (p.Lys336Asn)
c.1056G>C (p.Lys352Asn)
c.1053G>C (p.Lys351Asn)
c.1020G>C (p.Lys340Asn)
 dbSNP
3g.189868646G>TCA355755224TP63c.1059G>T (p.Lys353Asn)
c.777G>T (p.Lys259Asn)
c.522G>T (p.Lys174Asn)
n.883G>T
c.1008G>T (p.Lys336Asn)
c.1056G>T (p.Lys352Asn)
c.1053G>T (p.Lys351Asn)
c.1020G>T (p.Lys340Asn)
 dbSNP
3g.189868647G>ACA355755227TP63c.1060G>A (p.Ala354Thr)
c.778G>A (p.Ala260Thr)
c.523G>A (p.Ala175Thr)
n.884G>A
c.1009G>A (p.Ala337Thr)
c.1057G>A (p.Ala353Thr)
c.1054G>A (p.Ala352Thr)
c.1021G>A (p.Ala341Thr)
 dbSNP
3g.189868647G>CCA355755226TP63c.1060G>C (p.Ala354Pro)
c.778G>C (p.Ala260Pro)
c.523G>C (p.Ala175Pro)
n.884G>C
c.1009G>C (p.Ala337Pro)
c.1057G>C (p.Ala353Pro)
c.1054G>C (p.Ala352Pro)
c.1021G>C (p.Ala341Pro)
 dbSNP
3g.189868647G>TCA355755225TP63c.1060G>T (p.Ala354Ser)
c.778G>T (p.Ala260Ser)
c.523G>T (p.Ala175Ser)
n.884G>T
c.1009G>T (p.Ala337Ser)
c.1057G>T (p.Ala353Ser)
c.1054G>T (p.Ala352Ser)
c.1021G>T (p.Ala341Ser)
 dbSNP
3g.189868648C>ACA355755228TP63c.1061C>A (p.Ala354Glu)
c.779C>A (p.Ala260Glu)
c.524C>A (p.Ala175Glu)
n.885C>A
c.1010C>A (p.Ala337Glu)
c.1058C>A (p.Ala353Glu)
c.1055C>A (p.Ala352Glu)
c.1022C>A (p.Ala341Glu)
 ClinVar dbSNP
3g.189868648C=CA1428495868TP63c.1061C= (p.Ala354=)
c.779C= (p.Ala260=)
c.524C= (p.Ala175=)
n.885C=
c.1010C= (p.Ala337=)
c.1058C= (p.Ala353=)
c.1055C= (p.Ala352=)
c.1022C= (p.Ala341=)
3g.189868648C>GCA355755229TP63c.1061C>G (p.Ala354Gly)
c.779C>G (p.Ala260Gly)
c.524C>G (p.Ala175Gly)
n.885C>G
c.1010C>G (p.Ala337Gly)
c.1058C>G (p.Ala353Gly)
c.1055C>G (p.Ala352Gly)
c.1022C>G (p.Ala341Gly)
 dbSNP
3g.189868648C>TCA355755230TP63c.1061C>T (p.Ala354Val)
c.779C>T (p.Ala260Val)
c.524C>T (p.Ala175Val)
n.885C>T
c.1010C>T (p.Ala337Val)
c.1058C>T (p.Ala353Val)
c.1055C>T (p.Ala352Val)
c.1022C>T (p.Ala341Val)
 gnomAD v4 COSMIC COSMIC
3g.189868649G>ACA2752332TP63c.1062G>A (p.Ala354=)
c.780G>A (p.Ala260=)
c.525G>A (p.Ala175=)
n.886G>A
c.1011G>A (p.Ala337=)
c.1059G>A (p.Ala353=)
c.1056G>A (p.Ala352=)
c.1023G>A (p.Ala341=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189868649G>CCA437413560TP63c.1062G>C (p.Ala354=)
c.780G>C (p.Ala260=)
c.525G>C (p.Ala175=)
n.886G>C
c.1011G>C (p.Ala337=)
c.1059G>C (p.Ala353=)
c.1056G>C (p.Ala352=)
c.1023G>C (p.Ala341=)
3g.189868649G=CA1428495876TP63c.1062G= (p.Ala354=)
c.780G= (p.Ala260=)
c.525G= (p.Ala175=)
n.886G=
c.1011G= (p.Ala337=)
c.1059G= (p.Ala353=)
c.1056G= (p.Ala352=)
c.1023G= (p.Ala341=)
3g.189868649G>TCA437413562TP63c.1062G>T (p.Ala354=)
c.780G>T (p.Ala260=)
c.525G>T (p.Ala175=)
n.886G>T
c.1011G>T (p.Ala337=)
c.1059G>T (p.Ala353=)
c.1056G>T (p.Ala352=)
c.1023G>T (p.Ala341=)
 dbSNP
3g.189868650G>ACA355755231TP63c.1063G>A (p.Asp355Asn)
c.781G>A (p.Asp261Asn)
c.526G>A (p.Asp176Asn)
n.887G>A
c.1012G>A (p.Asp338Asn)
c.1060G>A (p.Asp354Asn)
c.1057G>A (p.Asp353Asn)
c.1024G>A (p.Asp342Asn)
 ClinVar dbSNP
3g.189868650G>CCA355755232TP63c.1063G>C (p.Asp355His)
c.781G>C (p.Asp261His)
c.526G>C (p.Asp176His)
n.887G>C
c.1012G>C (p.Asp338His)
c.1060G>C (p.Asp354His)
c.1057G>C (p.Asp353His)
c.1024G>C (p.Asp342His)
 dbSNP
3g.189868650G=CA1428495879TP63c.1063G= (p.Asp355=)
c.781G= (p.Asp261=)
c.526G= (p.Asp176=)
n.887G=
c.1012G= (p.Asp338=)
c.1060G= (p.Asp354=)
c.1057G= (p.Asp353=)
c.1024G= (p.Asp342=)
3g.189868650G>TCA355755233TP63c.1063G>T (p.Asp355Tyr)
c.781G>T (p.Asp261Tyr)
c.526G>T (p.Asp176Tyr)
n.887G>T
c.1012G>T (p.Asp338Tyr)
c.1060G>T (p.Asp354Tyr)
c.1057G>T (p.Asp353Tyr)
c.1024G>T (p.Asp342Tyr)
 dbSNP
3g.189868651A=CA1428495883TP63c.1064A= (p.Asp355=)
c.782A= (p.Asp261=)
c.527A= (p.Asp176=)
n.888A=
c.1013A= (p.Asp338=)
c.1061A= (p.Asp354=)
c.1058A= (p.Asp353=)
c.1025A= (p.Asp342=)
3g.189868651A>CCA355755234TP63c.1064A>C (p.Asp355Ala)
c.782A>C (p.Asp261Ala)
c.527A>C (p.Asp176Ala)
n.888A>C
c.1013A>C (p.Asp338Ala)
c.1061A>C (p.Asp354Ala)
c.1058A>C (p.Asp353Ala)
c.1025A>C (p.Asp342Ala)
3g.189868651A>GCA355755235TP63c.1064A>G (p.Asp355Gly)
c.782A>G (p.Asp261Gly)
c.527A>G (p.Asp176Gly)
n.888A>G
c.1013A>G (p.Asp338Gly)
c.1061A>G (p.Asp354Gly)
c.1058A>G (p.Asp353Gly)
c.1025A>G (p.Asp342Gly)
 dbSNP
3g.189868651A>TCA355755236TP63c.1064A>T (p.Asp355Val)
c.782A>T (p.Asp261Val)
c.527A>T (p.Asp176Val)
n.888A>T
c.1013A>T (p.Asp338Val)
c.1061A>T (p.Asp354Val)
c.1058A>T (p.Asp353Val)
c.1025A>T (p.Asp342Val)
 dbSNP gnomAD v4
3g.189868652T>ACA355755237TP63c.1065T>A (p.Asp355Glu)
c.783T>A (p.Asp261Glu)
c.528T>A (p.Asp176Glu)
n.889T>A
c.1014T>A (p.Asp338Glu)
c.1062T>A (p.Asp354Glu)
c.1059T>A (p.Asp353Glu)
c.1026T>A (p.Asp342Glu)
 dbSNP
3g.189868652T>CCA437413572TP63c.1065T>C (p.Asp355=)
c.783T>C (p.Asp261=)
c.528T>C (p.Asp176=)
n.889T>C
c.1014T>C (p.Asp338=)
c.1062T>C (p.Asp354=)
c.1059T>C (p.Asp353=)
c.1026T>C (p.Asp342=)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.189868652T>GCA355755238TP63c.1065T>G (p.Asp355Glu)
c.783T>G (p.Asp261Glu)
c.528T>G (p.Asp176Glu)
n.889T>G
c.1014T>G (p.Asp338Glu)
c.1062T>G (p.Asp354Glu)
c.1059T>G (p.Asp353Glu)
c.1026T>G (p.Asp342Glu)
 dbSNP
3g.189868653G>ACA355755241TP63c.1066G>A (p.Glu356Lys)
c.784G>A (p.Glu262Lys)
c.529G>A (p.Glu177Lys)
n.890G>A
c.1015G>A (p.Glu339Lys)
c.1063G>A (p.Glu355Lys)
c.1060G>A (p.Glu354Lys)
c.1027G>A (p.Glu343Lys)
 dbSNP
3g.189868653G>CCA355755240TP63c.1066G>C (p.Glu356Gln)
c.784G>C (p.Glu262Gln)
c.529G>C (p.Glu177Gln)
n.890G>C
c.1015G>C (p.Glu339Gln)
c.1063G>C (p.Glu355Gln)
c.1060G>C (p.Glu354Gln)
c.1027G>C (p.Glu343Gln)
 dbSNP
3g.189868653G>TCA355755239TP63c.1066G>T (p.Glu356Ter)
c.784G>T (p.Glu262Ter)
c.529G>T (p.Glu177Ter)
n.890G>T
c.1015G>T (p.Glu339Ter)
c.1063G>T (p.Glu355Ter)
c.1060G>T (p.Glu354Ter)
c.1027G>T (p.Glu343Ter)
3g.189868654A>CCA355755242TP63c.1067A>C (p.Glu356Ala)
c.785A>C (p.Glu262Ala)
c.530A>C (p.Glu177Ala)
n.891A>C
c.1016A>C (p.Glu339Ala)
c.1064A>C (p.Glu355Ala)
c.1061A>C (p.Glu354Ala)
c.1028A>C (p.Glu343Ala)
3g.189868654A>GCA355755243TP63c.1067A>G (p.Glu356Gly)
c.785A>G (p.Glu262Gly)
c.530A>G (p.Glu177Gly)
n.891A>G
c.1016A>G (p.Glu339Gly)
c.1064A>G (p.Glu355Gly)
c.1061A>G (p.Glu354Gly)
c.1028A>G (p.Glu343Gly)
 dbSNP
3g.189868654A>TCA355755244TP63c.1067A>T (p.Glu356Val)
c.785A>T (p.Glu262Val)
c.530A>T (p.Glu177Val)
n.891A>T
c.1016A>T (p.Glu339Val)
c.1064A>T (p.Glu355Val)
c.1061A>T (p.Glu354Val)
c.1028A>T (p.Glu343Val)
 dbSNP
3g.189868655A>CCA355755245TP63c.1068A>C (p.Glu356Asp)
c.786A>C (p.Glu262Asp)
c.531A>C (p.Glu177Asp)
n.892A>C
c.1017A>C (p.Glu339Asp)
c.1065A>C (p.Glu355Asp)
c.1062A>C (p.Glu354Asp)
c.1029A>C (p.Glu343Asp)
3g.189868655A>GCA437413583TP63c.1068A>G (p.Glu356=)
c.786A>G (p.Glu262=)
c.531A>G (p.Glu177=)
n.892A>G
c.1017A>G (p.Glu339=)
c.1065A>G (p.Glu355=)
c.1062A>G (p.Glu354=)
c.1029A>G (p.Glu343=)
 dbSNP
3g.189868655A>TCA355755246TP63c.1068A>T (p.Glu356Asp)
c.786A>T (p.Glu262Asp)
c.531A>T (p.Glu177Asp)
n.892A>T
c.1017A>T (p.Glu339Asp)
c.1065A>T (p.Glu355Asp)
c.1062A>T (p.Glu354Asp)
c.1029A>T (p.Glu343Asp)
 dbSNP
3g.189868656G>ACA355755247TP63c.1069G>A (p.Asp357Asn)
c.787G>A (p.Asp263Asn)
c.532G>A (p.Asp178Asn)
n.893G>A
c.1018G>A (p.Asp340Asn)
c.1066G>A (p.Asp356Asn)
c.1063G>A (p.Asp355Asn)
c.1030G>A (p.Asp344Asn)
 dbSNP COSMIC COSMIC COSMIC
3g.189868656G>CCA355755248TP63c.1069G>C (p.Asp357His)
c.787G>C (p.Asp263His)
c.532G>C (p.Asp178His)
n.893G>C
c.1018G>C (p.Asp340His)
c.1066G>C (p.Asp356His)
c.1063G>C (p.Asp355His)
c.1030G>C (p.Asp344His)
 dbSNP gnomAD v4
3g.189868656G>TCA355755249TP63c.1069G>T (p.Asp357Tyr)
c.787G>T (p.Asp263Tyr)
c.532G>T (p.Asp178Tyr)
n.893G>T
c.1018G>T (p.Asp340Tyr)
c.1066G>T (p.Asp356Tyr)
c.1063G>T (p.Asp355Tyr)
c.1030G>T (p.Asp344Tyr)
3g.189868657A>CCA355755250TP63c.1070A>C (p.Asp357Ala)
c.788A>C (p.Asp263Ala)
c.533A>C (p.Asp178Ala)
n.894A>C
c.1019A>C (p.Asp340Ala)
c.1067A>C (p.Asp356Ala)
c.1064A>C (p.Asp355Ala)
c.1031A>C (p.Asp344Ala)
3g.189868657A>GCA355755251TP63c.1070A>G (p.Asp357Gly)
c.788A>G (p.Asp263Gly)
c.533A>G (p.Asp178Gly)
n.894A>G
c.1019A>G (p.Asp340Gly)
c.1067A>G (p.Asp356Gly)
c.1064A>G (p.Asp355Gly)
c.1031A>G (p.Asp344Gly)
3g.189868657A>TCA355755252TP63c.1070A>T (p.Asp357Val)
c.788A>T (p.Asp263Val)
c.533A>T (p.Asp178Val)
n.894A>T
c.1019A>T (p.Asp340Val)
c.1067A>T (p.Asp356Val)
c.1064A>T (p.Asp355Val)
c.1031A>T (p.Asp344Val)
 dbSNP
3g.189868658T>ACA355755253TP63c.1071T>A (p.Asp357Glu)
c.789T>A (p.Asp263Glu)
c.534T>A (p.Asp178Glu)
n.895T>A
c.1020T>A (p.Asp340Glu)
c.1068T>A (p.Asp356Glu)
c.1065T>A (p.Asp355Glu)
c.1032T>A (p.Asp344Glu)
 dbSNP
3g.189868658T>CCA437413591TP63c.1071T>C (p.Asp357=)
c.789T>C (p.Asp263=)
c.534T>C (p.Asp178=)
n.895T>C
c.1020T>C (p.Asp340=)
c.1068T>C (p.Asp356=)
c.1065T>C (p.Asp355=)
c.1032T>C (p.Asp344=)
 gnomAD v4
3g.189868658T>GCA355755254TP63c.1071T>G (p.Asp357Glu)
c.789T>G (p.Asp263Glu)
c.534T>G (p.Asp178Glu)
n.895T>G
c.1020T>G (p.Asp340Glu)
c.1068T>G (p.Asp356Glu)
c.1065T>G (p.Asp355Glu)
c.1032T>G (p.Asp344Glu)
 dbSNP
3g.189868659A=CA1428495887TP63c.1072A= (p.Ser358=)
c.790A= (p.Ser264=)
c.535A= (p.Ser179=)
n.896A=
c.1021A= (p.Ser341=)
c.1069A= (p.Ser357=)
c.1066A= (p.Ser356=)
c.1033A= (p.Ser345=)
3g.189868659A>CCA355755257TP63c.1072A>C (p.Ser358Arg)
c.790A>C (p.Ser264Arg)
c.535A>C (p.Ser179Arg)
n.896A>C
c.1021A>C (p.Ser341Arg)
c.1069A>C (p.Ser357Arg)
c.1066A>C (p.Ser356Arg)
c.1033A>C (p.Ser345Arg)
3g.189868659A>GCA355755256TP63c.1072A>G (p.Ser358Gly)
c.790A>G (p.Ser264Gly)
c.535A>G (p.Ser179Gly)
n.896A>G
c.1021A>G (p.Ser341Gly)
c.1069A>G (p.Ser357Gly)
c.1066A>G (p.Ser356Gly)
c.1033A>G (p.Ser345Gly)
 dbSNP gnomAD v2 gnomAD v4
3g.189868659A>TCA355755255TP63c.1072A>T (p.Ser358Cys)
c.790A>T (p.Ser264Cys)
c.535A>T (p.Ser179Cys)
n.896A>T
c.1021A>T (p.Ser341Cys)
c.1069A>T (p.Ser357Cys)
c.1066A>T (p.Ser356Cys)
c.1033A>T (p.Ser345Cys)
 dbSNP
3g.189868660G>ACA355755260TP63c.1073G>A (p.Ser358Asn)
c.791G>A (p.Ser264Asn)
c.536G>A (p.Ser179Asn)
n.897G>A
c.1022G>A (p.Ser341Asn)
c.1070G>A (p.Ser357Asn)
c.1067G>A (p.Ser356Asn)
c.1034G>A (p.Ser345Asn)
 dbSNP gnomAD v4
3g.189868660G>CCA355755258TP63c.1073G>C (p.Ser358Thr)
c.791G>C (p.Ser264Thr)
c.536G>C (p.Ser179Thr)
n.897G>C
c.1022G>C (p.Ser341Thr)
c.1070G>C (p.Ser357Thr)
c.1067G>C (p.Ser356Thr)
c.1034G>C (p.Ser345Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.189868660G=CA1428495894TP63c.1073G= (p.Ser358=)
c.791G= (p.Ser264=)
c.536G= (p.Ser179=)
n.897G=
c.1022G= (p.Ser341=)
c.1070G= (p.Ser357=)
c.1067G= (p.Ser356=)
c.1034G= (p.Ser345=)
3g.189868660G>TCA355755259TP63c.1073G>T (p.Ser358Ile)
c.791G>T (p.Ser264Ile)
c.536G>T (p.Ser179Ile)
n.897G>T
c.1022G>T (p.Ser341Ile)
c.1070G>T (p.Ser357Ile)
c.1067G>T (p.Ser356Ile)
c.1034G>T (p.Ser345Ile)
 COSMIC COSMIC COSMIC
3g.189868661C>ACA355755261TP63c.1074C>A (p.Ser358Arg)
c.792C>A (p.Ser264Arg)
c.537C>A (p.Ser179Arg)
n.898C>A
c.1023C>A (p.Ser341Arg)
c.1071C>A (p.Ser357Arg)
c.1068C>A (p.Ser356Arg)
c.1035C>A (p.Ser345Arg)
3g.189868661C=CA1428495898TP63c.1074C= (p.Ser358=)
c.792C= (p.Ser264=)
c.537C= (p.Ser179=)
n.898C=
c.1023C= (p.Ser341=)
c.1071C= (p.Ser357=)
c.1068C= (p.Ser356=)
c.1035C= (p.Ser345=)
3g.189868661C>GCA355755262TP63c.1074C>G (p.Ser358Arg)
c.792C>G (p.Ser264Arg)
c.537C>G (p.Ser179Arg)
n.898C>G
c.1023C>G (p.Ser341Arg)
c.1071C>G (p.Ser357Arg)
c.1068C>G (p.Ser356Arg)
c.1035C>G (p.Ser345Arg)
 dbSNP
3g.189868661C>TCA437413602TP63c.1074C>T (p.Ser358=)
c.792C>T (p.Ser264=)
c.537C>T (p.Ser179=)
n.898C>T
c.1023C>T (p.Ser341=)
c.1071C>T (p.Ser357=)
c.1068C>T (p.Ser356=)
c.1035C>T (p.Ser345=)
 dbSNP gnomAD v2 gnomAD v4
3g.189868662A>CCA355755263TP63c.1075A>C (p.Ile359Leu)
c.793A>C (p.Ile265Leu)
c.538A>C (p.Ile180Leu)
n.899A>C
c.1024A>C (p.Ile342Leu)
c.1072A>C (p.Ile358Leu)
c.1069A>C (p.Ile357Leu)
c.1036A>C (p.Ile346Leu)
3g.189868662A>GCA355755264TP63c.1075A>G (p.Ile359Val)
c.793A>G (p.Ile265Val)
c.538A>G (p.Ile180Val)
n.899A>G
c.1024A>G (p.Ile342Val)
c.1072A>G (p.Ile358Val)
c.1069A>G (p.Ile357Val)
c.1036A>G (p.Ile346Val)
3g.189868662A>TCA355755265TP63c.1075A>T (p.Ile359Phe)
c.793A>T (p.Ile265Phe)
c.538A>T (p.Ile180Phe)
n.899A>T
c.1024A>T (p.Ile342Phe)
c.1072A>T (p.Ile358Phe)
c.1069A>T (p.Ile357Phe)
c.1036A>T (p.Ile346Phe)
 dbSNP gnomAD v4
3g.189868663T>ACA355755266TP63c.1076T>A (p.Ile359Asn)
c.794T>A (p.Ile265Asn)
c.539T>A (p.Ile180Asn)
n.900T>A
c.1025T>A (p.Ile342Asn)
c.1073T>A (p.Ile358Asn)
c.1070T>A (p.Ile357Asn)
c.1037T>A (p.Ile346Asn)
 dbSNP
3g.189868663T>CCA355755267TP63c.1076T>C (p.Ile359Thr)
c.794T>C (p.Ile265Thr)
c.539T>C (p.Ile180Thr)
n.900T>C
c.1025T>C (p.Ile342Thr)
c.1073T>C (p.Ile358Thr)
c.1070T>C (p.Ile357Thr)
c.1037T>C (p.Ile346Thr)
 dbSNP
3g.189868663T>GCA355755268TP63c.1076T>G (p.Ile359Ser)
c.794T>G (p.Ile265Ser)
c.539T>G (p.Ile180Ser)
n.900T>G
c.1025T>G (p.Ile342Ser)
c.1073T>G (p.Ile358Ser)
c.1070T>G (p.Ile357Ser)
c.1037T>G (p.Ile346Ser)
 dbSNP
3g.189868664C>ACA437413611TP63c.1077C>A (p.Ile359=)
c.795C>A (p.Ile265=)
c.540C>A (p.Ile180=)
n.901C>A
c.1026C>A (p.Ile342=)
c.1074C>A (p.Ile358=)
c.1071C>A (p.Ile357=)
c.1038C>A (p.Ile346=)
 dbSNP
3g.189868664C>GCA355755269TP63c.1077C>G (p.Ile359Met)
c.795C>G (p.Ile265Met)
c.540C>G (p.Ile180Met)
n.901C>G
c.1026C>G (p.Ile342Met)
c.1074C>G (p.Ile358Met)
c.1071C>G (p.Ile357Met)
c.1038C>G (p.Ile346Met)
 dbSNP
3g.189868664C>TCA437413622TP63c.1077C>T (p.Ile359=)
c.795C>T (p.Ile265=)
c.540C>T (p.Ile180=)
n.901C>T
c.1026C>T (p.Ile342=)
c.1074C>T (p.Ile358=)
c.1071C>T (p.Ile357=)
c.1038C>T (p.Ile346=)
 dbSNP
3g.189868665A>CCA437413625TP63c.1078A>C (p.Arg360=)
c.796A>C (p.Arg266=)
c.541A>C (p.Arg181=)
n.902A>C
c.1027A>C (p.Arg343=)
c.1075A>C (p.Arg359=)
c.1072A>C (p.Arg358=)
c.1039A>C (p.Arg347=)
3g.189868665A>GCA355755270TP63c.1078A>G (p.Arg360Gly)
c.796A>G (p.Arg266Gly)
c.541A>G (p.Arg181Gly)
n.902A>G
c.1027A>G (p.Arg343Gly)
c.1075A>G (p.Arg359Gly)
c.1072A>G (p.Arg358Gly)
c.1039A>G (p.Arg347Gly)
 dbSNP
3g.189868665A>TCA355755271TP63c.1078A>T (p.Arg360Ter)
c.796A>T (p.Arg266Ter)
c.541A>T (p.Arg181Ter)
n.902A>T
c.1027A>T (p.Arg343Ter)
c.1075A>T (p.Arg359Ter)
c.1072A>T (p.Arg358Ter)
c.1039A>T (p.Arg347Ter)

Number of alleles fetched