Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.139551025_139551347delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAGCA2461408577F9c.521-37_723+83delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG
n.1188-37_1390+83delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG
c.407-37_609+83delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG
c.392-37_594+83delinsAAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG
Xg.139551027_139551348delCA915952348F9c.521-35_723+84del
n.1188-35_1390+84del
c.407-35_609+84del
c.392-35_594+84del
 ClinVar dbSNP
Xg.139551112C>ACA336137401F9c.571C>A (p.Arg191Ser)
n.1238C>A
c.457C>A (p.Arg153Ser)
c.442C>A (p.Arg148Ser)
 dbSNP COSMIC
Xg.139551112C=CA2461408601F9c.571C= (p.Arg191=)
n.1238C=
c.457C= (p.Arg153=)
c.442C= (p.Arg148=)
Xg.139551112C>GCA414440564F9c.571C>G (p.Arg191Gly)
n.1238C>G
c.457C>G (p.Arg153Gly)
c.442C>G (p.Arg148Gly)
Xg.139551112C>TCA255340F9c.571C>T (p.Arg191Cys)
n.1238C>T
c.457C>T (p.Arg153Cys)
c.442C>T (p.Arg148Cys)
 ClinVar dbSNP ExAC gnomAD v2
Xg.139551113G>ACA255342F9c.572G>A (p.Arg191His)
n.1239G>A
c.458G>A (p.Arg153His)
c.443G>A (p.Arg148His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.139551113G>CCA414440567F9c.572G>C (p.Arg191Pro)
n.1239G>C
c.458G>C (p.Arg153Pro)
c.443G>C (p.Arg148Pro)
Xg.139551113G=CA2461408602F9c.572G= (p.Arg191=)
n.1239G=
c.458G= (p.Arg153=)
c.443G= (p.Arg148=)
Xg.139551113G>TCA414440568F9c.572G>T (p.Arg191Leu)
n.1239G>T
c.458G>T (p.Arg153Leu)
c.443G>T (p.Arg148Leu)
Xg.139551114T>ACA518861664F9c.573T>A (p.Arg191=)
n.1240T>A
c.459T>A (p.Arg153=)
c.444T>A (p.Arg148=)
 ClinVar dbSNP
Xg.139551114T>CCA518861665F9c.573T>C (p.Arg191=)
n.1240T>C
c.459T>C (p.Arg153=)
c.444T>C (p.Arg148=)
Xg.139551114T>GCA518861666F9c.573T>G (p.Arg191=)
n.1240T>G
c.459T>G (p.Arg153=)
c.444T>G (p.Arg148=)
Xg.139551115G>ACA414440571F9c.574G>A (p.Ala192Thr)
n.1241G>A
c.460G>A (p.Ala154Thr)
c.445G>A (p.Ala149Thr)
Xg.139551115G>CCA414440574F9c.574G>C (p.Ala192Pro)
n.1241G>C
c.460G>C (p.Ala154Pro)
c.445G>C (p.Ala149Pro)
Xg.139551115G>TCA414440577F9c.574G>T (p.Ala192Ser)
n.1241G>T
c.460G>T (p.Ala154Ser)
c.445G>T (p.Ala149Ser)
Xg.139551115_139551130delinsGCTGAGACTGTTTTTCCA2461408603F9c.574_589delinsGCTGAGACTGTTTTTC (p.Ala192=)
n.1241_1256delinsGCTGAGACTGTTTTTC
c.460_475delinsGCTGAGACTGTTTTTC (p.Ala154=)
c.445_460delinsGCTGAGACTGTTTTTC (p.Ala149=)
Xg.139551116delCA2695236184F9c.575del (p.Ala192ValfsTer11)
n.1242del
c.461del (p.Ala154ValfsTer11)
c.446del (p.Ala149ValfsTer11)
Xg.139551116C>ACA414440582F9c.575C>A (p.Ala192Asp)
n.1242C>A
c.461C>A (p.Ala154Asp)
c.446C>A (p.Ala149Asp)
Xg.139551116C=CA2461408604F9c.575C= (p.Ala192=)
n.1242C=
c.461C= (p.Ala154=)
c.446C= (p.Ala149=)
Xg.139551116C>GCA414440584F9c.575C>G (p.Ala192Gly)
n.1242C>G
c.461C>G (p.Ala154Gly)
c.446C>G (p.Ala149Gly)
 dbSNP
Xg.139551116C>TCA414440586F9c.575C>T (p.Ala192Val)
n.1242C>T
c.461C>T (p.Ala154Val)
c.446C>T (p.Ala149Val)
Xg.139551120_139551134delCA872122347F9c.579_593del (p.Glu193_Pro197del)
n.1246_1260del
c.465_479del (p.Glu155_Pro159del)
c.450_464del (p.Glu150_Pro154del)
 dbSNP gnomAD v3 gnomAD v4
Xg.139551117T>ACA518861668F9c.576T>A (p.Ala192=)
n.1243T>A
c.462T>A (p.Ala154=)
c.447T>A (p.Ala149=)
Xg.139551117T>CCA518861669F9c.576T>C (p.Ala192=)
n.1243T>C
c.462T>C (p.Ala154=)
c.447T>C (p.Ala149=)
Xg.139551117T>GCA518861670F9c.576T>G (p.Ala192=)
n.1243T>G
c.462T>G (p.Ala154=)
c.447T>G (p.Ala149=)
Xg.139551118G>ACA10529811F9c.577G>A (p.Glu193Lys)
n.1244G>A
c.463G>A (p.Glu155Lys)
c.448G>A (p.Glu150Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.139551118G>CCA414440592F9c.577G>C (p.Glu193Gln)
n.1244G>C
c.463G>C (p.Glu155Gln)
c.448G>C (p.Glu150Gln)
Xg.139551118G=CA2461408605F9c.577G= (p.Glu193=)
n.1244G=
c.463G= (p.Glu155=)
c.448G= (p.Glu150=)
Xg.139551118G>TCA414440594F9c.577G>T (p.Glu193Ter)
n.1244G>T
c.463G>T (p.Glu155Ter)
c.448G>T (p.Glu150Ter)
Xg.139551119A>CCA414440600F9c.578A>C (p.Glu193Ala)
n.1245A>C
c.464A>C (p.Glu155Ala)
c.449A>C (p.Glu150Ala)
Xg.139551119A>GCA414440598F9c.578A>G (p.Glu193Gly)
n.1245A>G
c.464A>G (p.Glu155Gly)
c.449A>G (p.Glu150Gly)
Xg.139551119A>TCA414440596F9c.578A>T (p.Glu193Val)
n.1245A>T
c.464A>T (p.Glu155Val)
c.449A>T (p.Glu150Val)
Xg.139551120G>ACA518861671F9c.579G>A (p.Glu193=)
n.1246G>A
c.465G>A (p.Glu155=)
c.450G>A (p.Glu150=)
 ClinVar dbSNP gnomAD v4
Xg.139551120G>CCA414440603F9c.579G>C (p.Glu193Asp)
n.1246G>C
c.465G>C (p.Glu155Asp)
c.450G>C (p.Glu150Asp)
Xg.139551120G>TCA414440601F9c.579G>T (p.Glu193Asp)
n.1246G>T
c.465G>T (p.Glu155Asp)
c.450G>T (p.Glu150Asp)
 gnomAD v4
Xg.139551121A=CA2461408606F9c.580A= (p.Thr194=)
n.1247A=
c.466A= (p.Thr156=)
c.451A= (p.Thr151=)
Xg.139551121A>CCA414440604F9c.580A>C (p.Thr194Pro)
n.1247A>C
c.466A>C (p.Thr156Pro)
c.451A>C (p.Thr151Pro)
Xg.139551121A>GCA121125F9c.580A>G (p.Thr194Ala)
n.1247A>G
c.466A>G (p.Thr156Ala)
c.451A>G (p.Thr151Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.139551121A>TCA414440605F9c.580A>T (p.Thr194Ser)
n.1247A>T
c.466A>T (p.Thr156Ser)
c.451A>T (p.Thr151Ser)
Xg.139551122C>ACA414440606F9c.581C>A (p.Thr194Asn)
n.1248C>A
c.467C>A (p.Thr156Asn)
c.452C>A (p.Thr151Asn)
Xg.139551122C>GCA414440608F9c.581C>G (p.Thr194Ser)
n.1248C>G
c.467C>G (p.Thr156Ser)
c.452C>G (p.Thr151Ser)
Xg.139551122C>TCA414440610F9c.581C>T (p.Thr194Ile)
n.1248C>T
c.467C>T (p.Thr156Ile)
c.452C>T (p.Thr151Ile)
Xg.139551123T>ACA518861672F9c.582T>A (p.Thr194=)
n.1249T>A
c.468T>A (p.Thr156=)
c.453T>A (p.Thr151=)
Xg.139551123T>CCA518861673F9c.582T>C (p.Thr194=)
n.1249T>C
c.468T>C (p.Thr156=)
c.453T>C (p.Thr151=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.139551123T>GCA10529812F9c.582T>G (p.Thr194=)
n.1249T>G
c.468T>G (p.Thr156=)
c.453T>G (p.Thr151=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.139551123T=CA2461408607F9c.582T= (p.Thr194=)
n.1249T=
c.468T= (p.Thr156=)
c.453T= (p.Thr151=)
Xg.139551124_139551125delCA2695236185F9c.583_584del (p.Val195PhefsTer3)
n.1250_1251del
c.469_470del (p.Val157PhefsTer3)
c.454_455del (p.Val152PhefsTer3)
Xg.139551124G>ACA414440611F9c.583G>A (p.Val195Ile)
n.1250G>A
c.469G>A (p.Val157Ile)
c.454G>A (p.Val152Ile)
Xg.139551124G>CCA414440614F9c.583G>C (p.Val195Leu)
n.1250G>C
c.469G>C (p.Val157Leu)
c.454G>C (p.Val152Leu)

Number of alleles fetched