Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154837577_154837772delCA915940534F8c.6901-20_*20del
c.634-20_*20del
c.496-20_*20del
c.6796-20_*20del
Xg.154837676C>ACA255018F8c.6977G>T (p.Arg2326Leu)
c.710G>T (p.Arg237Leu)
c.572G>T (p.Arg191Leu)
c.6872G>T (p.Arg2291Leu)
ClinVar dbSNP
Xg.154837676C=CA2466807437F8c.6977G= (p.Arg2326=)
c.710G= (p.Arg237=)
c.572G= (p.Arg191=)
c.6872G= (p.Arg2291=)
Xg.154837676C>GCA414897157F8c.6977G>C (p.Arg2326Pro)
c.710G>C (p.Arg237Pro)
c.572G>C (p.Arg191Pro)
c.6872G>C (p.Arg2291Pro)
Xg.154837676C>TCA255027F8c.6977G>A (p.Arg2326Gln)
c.710G>A (p.Arg237Gln)
c.572G>A (p.Arg191Gln)
c.6872G>A (p.Arg2291Gln)
ClinVar dbSNP
Xg.154837677G>ACA255007F8c.6976C>T (p.Arg2326Ter)
c.709C>T (p.Arg237Ter)
c.571C>T (p.Arg191Ter)
c.6871C>T (p.Arg2291Ter)
ClinVar dbSNP COSMIC COSMIC
Xg.154837677G>CCA414897172F8c.6976C>G (p.Arg2326Gly)
c.709C>G (p.Arg237Gly)
c.571C>G (p.Arg191Gly)
c.6871C>G (p.Arg2291Gly)
Xg.154837677G=CA2466807438F8c.6976C= (p.Arg2326=)
c.709C= (p.Arg237=)
c.571C= (p.Arg191=)
c.6871C= (p.Arg2291=)
Xg.154837677G>TCA519355250F8c.6976C>A (p.Arg2326=)
c.709C>A (p.Arg237=)
c.571C>A (p.Arg191=)
c.6871C>A (p.Arg2291=)
Xg.154837678A>CCA519355251F8c.6975T>G (p.Leu2325=)
c.708T>G (p.Leu236=)
c.570T>G (p.Leu190=)
c.6870T>G (p.Leu2290=)
Xg.154837678A>GCA519355252F8c.6975T>C (p.Leu2325=)
c.708T>C (p.Leu236=)
c.570T>C (p.Leu190=)
c.6870T>C (p.Leu2290=)
Xg.154837678A>TCA519355253F8c.6975T>A (p.Leu2325=)
c.708T>A (p.Leu236=)
c.570T>A (p.Leu190=)
c.6870T>A (p.Leu2290=)
Xg.154837679A>CCA414897176F8c.6974T>G (p.Leu2325Arg)
c.707T>G (p.Leu236Arg)
c.569T>G (p.Leu190Arg)
c.6869T>G (p.Leu2290Arg)
Xg.154837679A>GCA414897180F8c.6974T>C (p.Leu2325Pro)
c.707T>C (p.Leu236Pro)
c.569T>C (p.Leu190Pro)
c.6869T>C (p.Leu2290Pro)
Xg.154837679A>TCA414897183F8c.6974T>A (p.Leu2325His)
c.707T>A (p.Leu236His)
c.569T>A (p.Leu190His)
c.6869T>A (p.Leu2290His)
Xg.154837680G>ACA414897188F8c.6973C>T (p.Leu2325Phe)
c.706C>T (p.Leu236Phe)
c.568C>T (p.Leu190Phe)
c.6868C>T (p.Leu2290Phe)
Xg.154837680G>CCA414897194F8c.6973C>G (p.Leu2325Val)
c.706C>G (p.Leu236Val)
c.568C>G (p.Leu190Val)
c.6868C>G (p.Leu2290Val)
Xg.154837680G>TCA414897197F8c.6973C>A (p.Leu2325Ile)
c.706C>A (p.Leu236Ile)
c.568C>A (p.Leu190Ile)
c.6868C>A (p.Leu2290Ile)
Xg.154837681G>ACA519355255F8c.6972C>T (p.Tyr2324=)
c.705C>T (p.Tyr235=)
c.567C>T (p.Tyr189=)
c.6867C>T (p.Tyr2289=)
Xg.154837681G>CCA414897200F8c.6972C>G (p.Tyr2324Ter)
c.705C>G (p.Tyr235Ter)
c.567C>G (p.Tyr189Ter)
c.6867C>G (p.Tyr2289Ter)
Xg.154837681G=CA2466807439F8c.6972C= (p.Tyr2324=)
c.705C= (p.Tyr235=)
c.567C= (p.Tyr189=)
c.6867C= (p.Tyr2289=)
Xg.154837681G>TCA414897203F8c.6972C>A (p.Tyr2324Ter)
c.705C>A (p.Tyr235Ter)
c.567C>A (p.Tyr189Ter)
c.6867C>A (p.Tyr2289Ter)
Xg.154837682T>ACA414897216F8c.6971A>T (p.Tyr2324Phe)
c.704A>T (p.Tyr235Phe)
c.566A>T (p.Tyr189Phe)
c.6866A>T (p.Tyr2289Phe)
Xg.154837682T>CCA414897210F8c.6971A>G (p.Tyr2324Cys)
c.704A>G (p.Tyr235Cys)
c.566A>G (p.Tyr189Cys)
c.6866A>G (p.Tyr2289Cys)
Xg.154837682T>GCA414897213F8c.6971A>C (p.Tyr2324Ser)
c.704A>C (p.Tyr235Ser)
c.566A>C (p.Tyr189Ser)
c.6866A>C (p.Tyr2289Ser)
Xg.154837683A>CCA414897220F8c.6970T>G (p.Tyr2324Asp)
c.703T>G (p.Tyr235Asp)
c.565T>G (p.Tyr189Asp)
c.6865T>G (p.Tyr2289Asp)
Xg.154837683A>GCA414897223F8c.6970T>C (p.Tyr2324His)
c.703T>C (p.Tyr235His)
c.565T>C (p.Tyr189His)
c.6865T>C (p.Tyr2289His)
Xg.154837683A>TCA414897226F8c.6970T>A (p.Tyr2324Asn)
c.703T>A (p.Tyr235Asn)
c.565T>A (p.Tyr189Asn)
c.6865T>A (p.Tyr2289Asn)
Xg.154837684G>ACA519355259F8c.6969C>T (p.Arg2323=)
c.702C>T (p.Arg234=)
c.564C>T (p.Arg188=)
c.6864C>T (p.Arg2288=)
Xg.154837684G>CCA519355260F8c.6969C>G (p.Arg2323=)
c.702C>G (p.Arg234=)
c.564C>G (p.Arg188=)
c.6864C>G (p.Arg2288=)
Xg.154837684G>TCA519355261F8c.6969C>A (p.Arg2323=)
c.702C>A (p.Arg234=)
c.564C>A (p.Arg188=)
c.6864C>A (p.Arg2288=)
Xg.154837685C>ACA414897232F8c.6968G>T (p.Arg2323Leu)
c.701G>T (p.Arg234Leu)
c.563G>T (p.Arg188Leu)
c.6863G>T (p.Arg2288Leu)
Xg.154837685C=CA2466807440F8c.6968G= (p.Arg2323=)
c.701G= (p.Arg234=)
c.563G= (p.Arg188=)
c.6863G= (p.Arg2288=)
Xg.154837685C>GCA414897240F8c.6968G>C (p.Arg2323Pro)
c.701G>C (p.Arg234Pro)
c.563G>C (p.Arg188Pro)
c.6863G>C (p.Arg2288Pro)
Xg.154837685C>TCA255226F8c.6968G>A (p.Arg2323His)
c.701G>A (p.Arg234His)
c.563G>A (p.Arg188His)
c.6863G>A (p.Arg2288His)
ClinVar dbSNP
Xg.154837686G>ACA255225F8c.6967C>T (p.Arg2323Cys)
c.700C>T (p.Arg234Cys)
c.562C>T (p.Arg188Cys)
c.6862C>T (p.Arg2288Cys)
ClinVar dbSNP gnomAD
Xg.154837686G>CCA414897249F8c.6967C>G (p.Arg2323Gly)
c.700C>G (p.Arg234Gly)
c.562C>G (p.Arg188Gly)
c.6862C>G (p.Arg2288Gly)
ClinVar
Xg.154837686G=CA2466807441F8c.6967C= (p.Arg2323=)
c.700C= (p.Arg234=)
c.562C= (p.Arg188=)
c.6862C= (p.Arg2288=)
Xg.154837686G>TCA414897252F8c.6967C>A (p.Arg2323Ser)
c.700C>A (p.Arg234Ser)
c.562C>A (p.Arg188Ser)
c.6862C>A (p.Arg2288Ser)
Xg.154837687A=CA2466807442F8c.6966T= (p.Thr2322=)
c.699T= (p.Thr233=)
c.561T= (p.Thr187=)
c.6861T= (p.Thr2287=)
Xg.154837687A>CCA519355265F8c.6966T>G (p.Thr2322=)
c.699T>G (p.Thr233=)
c.561T>G (p.Thr187=)
c.6861T>G (p.Thr2287=)
gnomAD
Xg.154837687A>GCA519355266F8c.6966T>C (p.Thr2322=)
c.699T>C (p.Thr233=)
c.561T>C (p.Thr187=)
c.6861T>C (p.Thr2287=)
Xg.154837687A>TCA519355267F8c.6966T>A (p.Thr2322=)
c.699T>A (p.Thr233=)
c.561T>A (p.Thr187=)
c.6861T>A (p.Thr2287=)
Xg.154837688G>ACA414897256F8c.6965C>T (p.Thr2322Ile)
c.698C>T (p.Thr233Ile)
c.560C>T (p.Thr187Ile)
c.6860C>T (p.Thr2287Ile)
Xg.154837688G>CCA414897260F8c.6965C>G (p.Thr2322Ser)
c.698C>G (p.Thr233Ser)
c.560C>G (p.Thr187Ser)
c.6860C>G (p.Thr2287Ser)
Xg.154837688G=CA2466807443F8c.6965C= (p.Thr2322=)
c.698C= (p.Thr233=)
c.560C= (p.Thr187=)
c.6860C= (p.Thr2287=)
Xg.154837688G>TCA414897299F8c.6965C>A (p.Thr2322Asn)
c.698C>A (p.Thr233Asn)
c.560C>A (p.Thr187Asn)
c.6860C>A (p.Thr2287Asn)
Xg.154837689T>ACA414897313F8c.6964A>T (p.Thr2322Ser)
c.697A>T (p.Thr233Ser)
c.559A>T (p.Thr187Ser)
c.6859A>T (p.Thr2287Ser)
Xg.154837689T>CCA414897308F8c.6964A>G (p.Thr2322Ala)
c.697A>G (p.Thr233Ala)
c.559A>G (p.Thr187Ala)
c.6859A>G (p.Thr2287Ala)
Xg.154837689T>GCA414897306F8c.6964A>C (p.Thr2322Pro)
c.697A>C (p.Thr233Pro)
c.559A>C (p.Thr187Pro)
c.6859A>C (p.Thr2287Pro)

Number of alleles fetched