Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154863151C>ACA414907460F8c.6506G>T (p.Arg2169Leu)
c.239G>T (p.Arg80Leu)
c.101G>T (p.Arg34Leu)
c.6401G>T (p.Arg2134Leu)
dbSNP
Xg.154863151C=CA2466815650F8c.6506G= (p.Arg2169=)
c.239G= (p.Arg80=)
c.101G= (p.Arg34=)
c.6401G= (p.Arg2134=)
Xg.154863151C>GCA414907465F8c.6506G>C (p.Arg2169Pro)
c.239G>C (p.Arg80Pro)
c.101G>C (p.Arg34Pro)
c.6401G>C (p.Arg2134Pro)
Xg.154863151C>TCA255208F8c.6506G>A (p.Arg2169His)
c.239G>A (p.Arg80His)
c.101G>A (p.Arg34His)
c.6401G>A (p.Arg2134His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154863152G>ACA10567800F8c.6505C>T (p.Arg2169Cys)
c.238C>T (p.Arg80Cys)
c.100C>T (p.Arg34Cys)
c.6400C>T (p.Arg2134Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154863152G>CCA414907471F8c.6505C>G (p.Arg2169Gly)
c.238C>G (p.Arg80Gly)
c.100C>G (p.Arg34Gly)
c.6400C>G (p.Arg2134Gly)
Xg.154863152G=CA2466815651F8c.6505C= (p.Arg2169=)
c.238C= (p.Arg80=)
c.100C= (p.Arg34=)
c.6400C= (p.Arg2134=)
Xg.154863152G>TCA414907477F8c.6505C>A (p.Arg2169Ser)
c.238C>A (p.Arg80Ser)
c.100C>A (p.Arg34Ser)
c.6400C>A (p.Arg2134Ser)
Xg.154863153G>ACA519357895F8c.6504C>T (p.Ile2168=)
c.237C>T (p.Ile79=)
c.99C>T (p.Ile33=)
c.6399C>T (p.Ile2133=)
Xg.154863153G>CCA414907482F8c.6504C>G (p.Ile2168Met)
c.237C>G (p.Ile79Met)
c.99C>G (p.Ile33Met)
c.6399C>G (p.Ile2133Met)
Xg.154863153G>TCA519357896F8c.6504C>A (p.Ile2168=)
c.237C>A (p.Ile79=)
c.99C>A (p.Ile33=)
c.6399C>A (p.Ile2133=)
Xg.154863154A>CCA414907488F8c.6503T>G (p.Ile2168Ser)
c.236T>G (p.Ile79Ser)
c.98T>G (p.Ile33Ser)
c.6398T>G (p.Ile2133Ser)
Xg.154863154A>GCA414907491F8c.6503T>C (p.Ile2168Thr)
c.236T>C (p.Ile79Thr)
c.98T>C (p.Ile33Thr)
c.6398T>C (p.Ile2133Thr)
Xg.154863154A>TCA414907498F8c.6503T>A (p.Ile2168Asn)
c.236T>A (p.Ile79Asn)
c.98T>A (p.Ile33Asn)
c.6398T>A (p.Ile2133Asn)
Xg.154863155T>ACA414907501F8c.6502A>T (p.Ile2168Phe)
c.235A>T (p.Ile79Phe)
c.97A>T (p.Ile33Phe)
c.6397A>T (p.Ile2133Phe)
gnomAD v4
Xg.154863155T>CCA414907503F8c.6502A>G (p.Ile2168Val)
c.235A>G (p.Ile79Val)
c.97A>G (p.Ile33Val)
c.6397A>G (p.Ile2133Val)
gnomAD v4
Xg.154863155T>GCA414907507F8c.6502A>C (p.Ile2168Leu)
c.235A>C (p.Ile79Leu)
c.97A>C (p.Ile33Leu)
c.6397A>C (p.Ile2133Leu)
Xg.154863156delCA2695237170F8c.6501del (p.Tyr2167Ter)
c.234del (p.Tyr78Ter)
c.96del (p.Tyr32Ter)
c.6396del (p.Tyr2132Ter)
Xg.154863156G>ACA519357898F8c.6501C>T (p.Tyr2167=)
c.234C>T (p.Tyr78=)
c.96C>T (p.Tyr32=)
c.6396C>T (p.Tyr2132=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154863156G>CCA414907512F8c.6501C>G (p.Tyr2167Ter)
c.234C>G (p.Tyr78Ter)
c.96C>G (p.Tyr32Ter)
c.6396C>G (p.Tyr2132Ter)
Xg.154863156G=CA2466815652F8c.6501C= (p.Tyr2167=)
c.234C= (p.Tyr78=)
c.96C= (p.Tyr32=)
c.6396C= (p.Tyr2132=)
Xg.154863156G>TCA414907514F8c.6501C>A (p.Tyr2167Ter)
c.234C>A (p.Tyr78Ter)
c.96C>A (p.Tyr32Ter)
c.6396C>A (p.Tyr2132Ter)
Xg.154863157T>ACA414907521F8c.6500A>T (p.Tyr2167Phe)
c.233A>T (p.Tyr78Phe)
c.95A>T (p.Tyr32Phe)
c.6395A>T (p.Tyr2132Phe)
Xg.154863157T>CCA414907531F8c.6500A>G (p.Tyr2167Cys)
c.233A>G (p.Tyr78Cys)
c.95A>G (p.Tyr32Cys)
c.6395A>G (p.Tyr2132Cys)
gnomAD v4
Xg.154863157T>GCA414907525F8c.6500A>C (p.Tyr2167Ser)
c.233A>C (p.Tyr78Ser)
c.95A>C (p.Tyr32Ser)
c.6395A>C (p.Tyr2132Ser)
Xg.154863158A>CCA414907538F8c.6499T>G (p.Tyr2167Asp)
c.232T>G (p.Tyr78Asp)
c.94T>G (p.Tyr32Asp)
c.6394T>G (p.Tyr2132Asp)
COSMIC COSMIC
Xg.154863158A>GCA414907540F8c.6499T>C (p.Tyr2167His)
c.232T>C (p.Tyr78His)
c.94T>C (p.Tyr32His)
c.6394T>C (p.Tyr2132His)
Xg.154863158A>TCA414907544F8c.6499T>A (p.Tyr2167Asn)
c.232T>A (p.Tyr78Asn)
c.94T>A (p.Tyr32Asn)
c.6394T>A (p.Tyr2132Asn)
Xg.154863159T>ACA519357901F8c.6498A>T (p.Arg2166=)
c.231A>T (p.Arg77=)
c.93A>T (p.Arg31=)
c.6393A>T (p.Arg2131=)
Xg.154863159T>CCA519357902F8c.6498A>G (p.Arg2166=)
c.231A>G (p.Arg77=)
c.93A>G (p.Arg31=)
c.6393A>G (p.Arg2131=)
Xg.154863159T>GCA519357903F8c.6498A>C (p.Arg2166=)
c.231A>C (p.Arg77=)
c.93A>C (p.Arg31=)
c.6393A>C (p.Arg2131=)
Xg.154863160delCA2695237171F8c.6497del (p.Arg2166HisfsTer20)
c.230del (p.Arg77HisfsTer20)
c.92del (p.Arg31HisfsTer20)
c.6392del (p.Arg2131HisfsTer20)
Xg.154863160C>ACA414907549F8c.6497G>T (p.Arg2166Leu)
c.230G>T (p.Arg77Leu)
c.92G>T (p.Arg31Leu)
c.6392G>T (p.Arg2131Leu)
Xg.154863160C=CA2466815653F8c.6497G= (p.Arg2166=)
c.230G= (p.Arg77=)
c.92G= (p.Arg31=)
c.6392G= (p.Arg2131=)
Xg.154863160C>GCA414907552F8c.6497G>C (p.Arg2166Pro)
c.230G>C (p.Arg77Pro)
c.92G>C (p.Arg31Pro)
c.6392G>C (p.Arg2131Pro)
dbSNP
Xg.154863160C>TCA10567801F8c.6497G>A (p.Arg2166Gln)
c.230G>A (p.Arg77Gln)
c.92G>A (p.Arg31Gln)
c.6392G>A (p.Arg2131Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.154863161G>ACA255013F8c.6496C>T (p.Arg2166Ter)
c.229C>T (p.Arg77Ter)
c.91C>T (p.Arg31Ter)
c.6391C>T (p.Arg2131Ter)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.154863161G>CCA414907560F8c.6496C>G (p.Arg2166Gly)
c.229C>G (p.Arg77Gly)
c.91C>G (p.Arg31Gly)
c.6391C>G (p.Arg2131Gly)
Xg.154863161G=CA2466815654F8c.6496C= (p.Arg2166=)
c.229C= (p.Arg77=)
c.91C= (p.Arg31=)
c.6391C= (p.Arg2131=)
Xg.154863161G>TCA519357907F8c.6496C>A (p.Arg2166=)
c.229C>A (p.Arg77=)
c.91C>A (p.Arg31=)
c.6391C>A (p.Arg2131=)
Xg.154863162A>CCA519357908F8c.6495T>G (p.Ala2165=)
c.228T>G (p.Ala76=)
c.90T>G (p.Ala30=)
c.6390T>G (p.Ala2130=)
gnomAD v4
Xg.154863162A>GCA519357909F8c.6495T>C (p.Ala2165=)
c.228T>C (p.Ala76=)
c.90T>C (p.Ala30=)
c.6390T>C (p.Ala2130=)
Xg.154863162A>TCA519357910F8c.6495T>A (p.Ala2165=)
c.228T>A (p.Ala76=)
c.90T>A (p.Ala30=)
c.6390T>A (p.Ala2130=)
Xg.154863163delCA2695237172F8c.6494del (p.Ala2165ValfsTer21)
c.227del (p.Ala76ValfsTer21)
c.89del (p.Ala30ValfsTer21)
c.6389del (p.Ala2130ValfsTer21)
Xg.154863163G>ACA414907578F8c.6494C>T (p.Ala2165Val)
c.227C>T (p.Ala76Val)
c.89C>T (p.Ala30Val)
c.6389C>T (p.Ala2130Val)
dbSNP COSMIC COSMIC
Xg.154863163G>CCA414907573F8c.6494C>G (p.Ala2165Gly)
c.227C>G (p.Ala76Gly)
c.89C>G (p.Ala30Gly)
c.6389C>G (p.Ala2130Gly)
Xg.154863163G=CA2466815655F8c.6494C= (p.Ala2165=)
c.227C= (p.Ala76=)
c.89C= (p.Ala30=)
c.6389C= (p.Ala2130=)
Xg.154863163G>TCA414907566F8c.6494C>A (p.Ala2165Asp)
c.227C>A (p.Ala76Asp)
c.89C>A (p.Ala30Asp)
c.6389C>A (p.Ala2130Asp)
Xg.154863164C>ACA414907583F8c.6493G>T (p.Ala2165Ser)
c.226G>T (p.Ala76Ser)
c.88G>T (p.Ala30Ser)
c.6388G>T (p.Ala2130Ser)
dbSNP gnomAD v3 gnomAD v4
Xg.154863164C=CA2466815656F8c.6493G= (p.Ala2165=)
c.226G= (p.Ala76=)
c.88G= (p.Ala30=)
c.6388G= (p.Ala2130=)

Number of alleles fetched