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.139551115_139551130delinsGCTGAGACTGTTTTTCCA2461408603F9c.574_589delinsGCTGAGACTGTTTTTC (p.Ala192=)
n.1241_1256delinsGCTGAGACTGTTTTTC
c.460_475delinsGCTGAGACTGTTTTTC (p.Ala154=)
c.445_460delinsGCTGAGACTGTTTTTC (p.Ala149=)
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=)
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=)
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)
Xg.139551124G>TCA414440616F9c.583G>T (p.Val195Phe)
n.1250G>T
c.469G>T (p.Val157Phe)
c.454G>T (p.Val152Phe)
Xg.139551125T>ACA414440618F9c.584T>A (p.Val195Asp)
n.1251T>A
c.470T>A (p.Val157Asp)
c.455T>A (p.Val152Asp)
ClinVar dbSNP
Xg.139551125T>CCA414440623F9c.584T>C (p.Val195Ala)
n.1251T>C
c.470T>C (p.Val157Ala)
c.455T>C (p.Val152Ala)
Xg.139551125T>GCA336137420F9c.584T>G (p.Val195Gly)
n.1251T>G
c.470T>G (p.Val157Gly)
c.455T>G (p.Val152Gly)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.139551125T=CA2461408608F9c.584T= (p.Val195=)
n.1251T=
c.470T= (p.Val157=)
c.455T= (p.Val152=)
Xg.139551129dupCA645610452F9c.588dup (p.Pro197SerfsTer2)
n.1255dup
c.474dup (p.Pro159SerfsTer2)
c.459dup (p.Pro154SerfsTer2)
COSMIC
Xg.139551126T>ACA518861674F9c.585T>A (p.Val195=)
n.1252T>A
c.471T>A (p.Val157=)
c.456T>A (p.Val152=)
Xg.139551126T>CCA518861675F9c.585T>C (p.Val195=)
n.1252T>C
c.471T>C (p.Val157=)
c.456T>C (p.Val152=)
Xg.139551126T>GCA518861676F9c.585T>G (p.Val195=)
n.1252T>G
c.471T>G (p.Val157=)
c.456T>G (p.Val152=)
Xg.139551127T>ACA414440625F9c.586T>A (p.Phe196Ile)
n.1253T>A
c.472T>A (p.Phe158Ile)
c.457T>A (p.Phe153Ile)
Xg.139551127T>CCA414440627F9c.586T>C (p.Phe196Leu)
n.1253T>C
c.472T>C (p.Phe158Leu)
c.457T>C (p.Phe153Leu)
Xg.139551127T>GCA414440626F9c.586T>G (p.Phe196Val)
n.1253T>G
c.472T>G (p.Phe158Val)
c.457T>G (p.Phe153Val)
Xg.139551128T>ACA414440628F9c.587T>A (p.Phe196Tyr)
n.1254T>A
c.473T>A (p.Phe158Tyr)
c.458T>A (p.Phe153Tyr)
Xg.139551128T>CCA414440629F9c.587T>C (p.Phe196Ser)
n.1254T>C
c.473T>C (p.Phe158Ser)
c.458T>C (p.Phe153Ser)
Xg.139551128T>GCA414440631F9c.587T>G (p.Phe196Cys)
n.1254T>G
c.473T>G (p.Phe158Cys)
c.458T>G (p.Phe153Cys)
Xg.139551129T>ACA414440632F9c.588T>A (p.Phe196Leu)
n.1255T>A
c.474T>A (p.Phe158Leu)
c.459T>A (p.Phe153Leu)
Xg.139551129T>CCA518861681F9c.588T>C (p.Phe196=)
n.1255T>C
c.474T>C (p.Phe158=)
c.459T>C (p.Phe153=)
gnomAD v4
Xg.139551129T>GCA414440634F9c.588T>G (p.Phe196Leu)
n.1255T>G
c.474T>G (p.Phe158Leu)
c.459T>G (p.Phe153Leu)
Xg.139551130C>ACA414440636F9c.589C>A (p.Pro197Thr)
n.1256C>A
c.475C>A (p.Pro159Thr)
c.460C>A (p.Pro154Thr)

Number of alleles fetched