Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154969317A=CA2466848959F8c.1009+14T= (n.1009+14T=)
c.*885+14T= (n.*885+14T=)
c.904+14T= (n.904+14T=)
Xg.154969317A>GCA645292865F8c.1009+14T>C (n.1009+14T>C)
c.*885+14T>C (n.*885+14T>C)
c.904+14T>C (n.904+14T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969319C>ACA337337474F8c.1009+12G>T (n.1009+12G>T)
c.*885+12G>T (n.*885+12G>T)
c.904+12G>T (n.904+12G>T)
 dbSNP
Xg.154969319C=CA2466848960F8c.1009+12G= (n.1009+12G=)
c.*885+12G= (n.*885+12G=)
c.904+12G= (n.904+12G=)
Xg.154969320C>TCA2695169611F8c.1009+11G>A (n.1009+11G>A)
c.*885+11G>A (n.*885+11G>A)
c.904+11G>A (n.904+11G>A)
 gnomAD v4
Xg.154969321A=CA2466848961F8c.1009+10T= (n.1009+10T=)
c.*885+10T= (n.*885+10T=)
c.904+10T= (n.904+10T=)
Xg.154969321_154969322insCCA2466848962F8c.1009+9_1009+10insG (n.1009+9_1009+10insG)
c.*885+9_*885+10insG (n.*885+9_*885+10insG)
c.904+9_904+10insG (n.904+9_904+10insG)
 dbSNP
Xg.154969324_154969330delinsATATTACCA2466848963F8c.1009+1_1009+7delinsGTAATAT (n.1009+1_1009+7delinsGTAATAT)
c.*885+1_*885+7delinsGTAATAT (n.*885+1_*885+7delinsGTAATAT)
c.904+1_904+7delinsGTAATAT (n.904+1_904+7delinsGTAATAT)
Xg.154969325T>CCA645292866F8c.1009+6A>G (n.1009+6A>G)
c.*885+6A>G (n.*885+6A>G)
c.904+6A>G (n.904+6A>G)
 dbSNP gnomAD v2 gnomAD v4
Xg.154969325T=CA2466848965F8c.1009+6A= (n.1009+6A=)
c.*885+6A= (n.*885+6A=)
c.904+6A= (n.904+6A=)
Xg.154969325_154969330delCA2466848964F8c.1009+1_1009+6del (n.1009+1_1009+6del)
c.*885+1_*885+6del (n.*885+1_*885+6del)
c.904+1_904+6del (n.904+1_904+6del)
 dbSNP
Xg.154969328T>ACA2695237411F8c.1009+3A>T (n.1009+3A>T)
c.*885+3A>T (n.*885+3A>T)
c.904+3A>T (n.904+3A>T)
Xg.154969328T>CCA2695237409F8c.1009+3A>G (n.1009+3A>G)
c.*885+3A>G (n.*885+3A>G)
c.904+3A>G (n.904+3A>G)
Xg.154969328T>GCA2695237408F8c.1009+3A>C (n.1009+3A>C)
c.*885+3A>C (n.*885+3A>C)
c.904+3A>C (n.904+3A>C)
Xg.154969329_154969448delCA2695237407F8c.893_1009+3del
c.*769_*885+3del
c.788_904+3del
Xg.154969329A>CCA414917522F8c.1009+2T>G (n.1009+2T>G)
c.*885+2T>G (n.*885+2T>G)
c.904+2T>G (n.904+2T>G)
Xg.154969329A>GCA414917526F8c.1009+2T>C (n.1009+2T>C)
c.*885+2T>C (n.*885+2T>C)
c.904+2T>C (n.904+2T>C)
Xg.154969329A>TCA414917528F8c.1009+2T>A (n.1009+2T>A)
c.*885+2T>A (n.*885+2T>A)
c.904+2T>A (n.904+2T>A)
Xg.154969329_154969333delinsGCA2695237412F8c.1007_1009+2delinsC
c.*883_*885+2delinsC
c.902_904+2delinsC
Xg.154969330C>ACA414917530F8c.1009+1G>T (n.1009+1G>T)
c.*885+1G>T (n.*885+1G>T)
c.904+1G>T (n.904+1G>T)
 dbSNP
Xg.154969330C=CA2466848966F8c.1009+1G= (n.1009+1G=)
c.*885+1G= (n.*885+1G=)
c.904+1G= (n.904+1G=)
Xg.154969330C>GCA414917532F8c.1009+1G>C (n.1009+1G>C)
c.*885+1G>C (n.*885+1G>C)
c.904+1G>C (n.904+1G>C)
Xg.154969330C>TCA414917534F8c.1009+1G>A (n.1009+1G>A)
c.*885+1G>A (n.*885+1G>A)
c.904+1G>A (n.904+1G>A)
Xg.154969331C>ACA414917536F8c.1009G>T (p.Asp337Tyr)
c.*885G>T (n.*885G>T)
c.904G>T (p.Asp302Tyr)
Xg.154969331C>GCA414917539F8c.1009G>C (p.Asp337His)
c.*885G>C (n.*885G>C)
c.904G>C (p.Asp302His)
Xg.154969331C>TCA414917537F8c.1009G>A (p.Asp337Asn)
c.*885G>A (n.*885G>A)
c.904G>A (p.Asp302Asn)
Xg.154969332A=CA2466848967F8c.1008T= (p.His336=)
c.*884T= (n.*884T=)
c.903T= (p.His301=)
Xg.154969332A>CCA414917541F8c.1008T>G (p.His336Gln)
c.*884T>G (n.*884T>G)
c.903T>G (p.His301Gln)
Xg.154969332A>GCA519366986F8c.1008T>C (p.His336=)
c.*884T>C (n.*884T>C)
c.903T>C (p.His301=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154969332A>TCA414917543F8c.1008T>A (p.His336Gln)
c.*884T>A (n.*884T>A)
c.903T>A (p.His301Gln)
Xg.154969333T>ACA414917545F8c.1007A>T (p.His336Leu)
c.*883A>T (n.*883A>T)
c.902A>T (p.His301Leu)
Xg.154969333T>CCA414917546F8c.1007A>G (p.His336Arg)
c.*883A>G (n.*883A>G)
c.902A>G (p.His301Arg)
 gnomAD v4
Xg.154969333T>GCA414917549F8c.1007A>C (p.His336Pro)
c.*883A>C (n.*883A>C)
c.902A>C (p.His301Pro)
Xg.154969334G>ACA414917551F8c.1006C>T (p.His336Tyr)
c.*882C>T (n.*882C>T)
c.901C>T (p.His301Tyr)
Xg.154969334G>CCA414917552F8c.1006C>G (p.His336Asp)
c.*882C>G (n.*882C>G)
c.901C>G (p.His301Asp)
Xg.154969334G>TCA414917554F8c.1006C>A (p.His336Asn)
c.*882C>A (n.*882C>A)
c.901C>A (p.His301Asn)
Xg.154969335T>ACA10568520F8c.1005A>T (p.Gln335His)
c.*881A>T (n.*881A>T)
c.900A>T (p.Gln300His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969335T>CCA519366998F8c.1005A>G (p.Gln335=)
c.*881A>G (n.*881A>G)
c.900A>G (p.Gln300=)
Xg.154969335T>GCA414917558F8c.1005A>C (p.Gln335His)
c.*881A>C (n.*881A>C)
c.900A>C (p.Gln300His)
Xg.154969335T=CA2466848968F8c.1005A= (p.Gln335=)
c.*881A= (n.*881A=)
c.900A= (p.Gln300=)
Xg.154969336T>ACA414917563F8c.1004A>T (p.Gln335Leu)
c.*880A>T (n.*880A>T)
c.899A>T (p.Gln300Leu)
Xg.154969336T>CCA414917567F8c.1004A>G (p.Gln335Arg)
c.*880A>G (n.*880A>G)
c.899A>G (p.Gln300Arg)
Xg.154969336T>GCA414917565F8c.1004A>C (p.Gln335Pro)
c.*880A>C (n.*880A>C)
c.899A>C (p.Gln300Pro)
Xg.154969337G>ACA414917570F8c.1003C>T (p.Gln335Ter)
c.*879C>T (n.*879C>T)
c.898C>T (p.Gln300Ter)
 dbSNP
Xg.154969337G>CCA414917572F8c.1003C>G (p.Gln335Glu)
c.*879C>G (n.*879C>G)
c.898C>G (p.Gln300Glu)
Xg.154969337G=CA2466848969F8c.1003C= (p.Gln335=)
c.*879C= (n.*879C=)
c.898C= (p.Gln300=)
Xg.154969337G>TCA414917574F8c.1003C>A (p.Gln335Lys)
c.*879C>A (n.*879C>A)
c.898C>A (p.Gln300Lys)
 gnomAD v4 COSMIC COSMIC
Xg.154969338G>ACA519367013F8c.1002C>T (p.His334=)
c.*878C>T (n.*878C>T)
c.897C>T (p.His299=)
 dbSNP
Xg.154969338G>CCA414917575F8c.1002C>G (p.His334Gln)
c.*878C>G (n.*878C>G)
c.897C>G (p.His299Gln)
Xg.154969338G=CA2466848970F8c.1002C= (p.His334=)
c.*878C= (n.*878C=)
c.897C= (p.His299=)
Xg.154969338G>TCA414917576F8c.1002C>A (p.His334Gln)
c.*878C>A (n.*878C>A)
c.897C>A (p.His299Gln)
 dbSNP
Xg.154969339T>ACA414917578F8c.1001A>T (p.His334Leu)
c.*877A>T (n.*877A>T)
c.896A>T (p.His299Leu)
Xg.154969339T>CCA414917580F8c.1001A>G (p.His334Arg)
c.*877A>G (n.*877A>G)
c.896A>G (p.His299Arg)
Xg.154969339T>GCA414917583F8c.1001A>C (p.His334Pro)
c.*877A>C (n.*877A>C)
c.896A>C (p.His299Pro)
Xg.154969340G>ACA414917585F8c.1000C>T (p.His334Tyr)
c.*876C>T (n.*876C>T)
c.895C>T (p.His299Tyr)
 dbSNP
Xg.154969340G>CCA414917587F8c.1000C>G (p.His334Asp)
c.*876C>G (n.*876C>G)
c.895C>G (p.His299Asp)
Xg.154969340G=CA2466848971F8c.1000C= (p.His334=)
c.*876C= (n.*876C=)
c.895C= (p.His299=)
Xg.154969340G>TCA414917589F8c.1000C>A (p.His334Asn)
c.*876C>A (n.*876C>A)
c.895C>A (p.His299Asn)
Xg.154969341G>ACA519367028F8c.999C>T (p.Ser333=)
c.*875C>T (n.*875C>T)
c.894C>T (p.Ser298=)
Xg.154969341G>CCA519367030F8c.999C>G (p.Ser333=)
c.*875C>G (n.*875C>G)
c.894C>G (p.Ser298=)
Xg.154969341G>TCA519367029F8c.999C>A (p.Ser333=)
c.*875C>A (n.*875C>A)
c.894C>A (p.Ser298=)
Xg.154969342G>ACA414917598F8c.998C>T (p.Ser333Phe)
c.*874C>T (n.*874C>T)
c.893C>T (p.Ser298Phe)
Xg.154969342G>CCA414917594F8c.998C>G (p.Ser333Cys)
c.*874C>G (n.*874C>G)
c.893C>G (p.Ser298Cys)
Xg.154969342G>TCA414917596F8c.998C>A (p.Ser333Tyr)
c.*874C>A (n.*874C>A)
c.893C>A (p.Ser298Tyr)
 COSMIC COSMIC
Xg.154969343A>CCA414917600F8c.997T>G (p.Ser333Ala)
c.*873T>G (n.*873T>G)
c.892T>G (p.Ser298Ala)
Xg.154969343A>GCA414917602F8c.997T>C (p.Ser333Pro)
c.*873T>C (n.*873T>C)
c.892T>C (p.Ser298Pro)
Xg.154969343A>TCA414917604F8c.997T>A (p.Ser333Thr)
c.*873T>A (n.*873T>A)
c.892T>A (p.Ser298Thr)
Xg.154969344A>CCA519367036F8c.996T>G (p.Ser332=)
c.*872T>G (n.*872T>G)
c.891T>G (p.Ser297=)
Xg.154969344A>GCA519367042F8c.996T>C (p.Ser332=)
c.*872T>C (n.*872T>C)
c.891T>C (p.Ser297=)
Xg.154969344A>TCA519367044F8c.996T>A (p.Ser332=)
c.*872T>A (n.*872T>A)
c.891T>A (p.Ser297=)
Xg.154969345G>ACA414917606F8c.995C>T (p.Ser332Phe)
c.*871C>T (n.*871C>T)
c.890C>T (p.Ser297Phe)
 gnomAD v4
Xg.154969345G>CCA414917608F8c.995C>G (p.Ser332Cys)
c.*871C>G (n.*871C>G)
c.890C>G (p.Ser297Cys)
Xg.154969345G>TCA414917610F8c.995C>A (p.Ser332Tyr)
c.*871C>A (n.*871C>A)
c.890C>A (p.Ser297Tyr)
Xg.154969346A>CCA414917613F8c.994T>G (p.Ser332Ala)
c.*870T>G (n.*870T>G)
c.889T>G (p.Ser297Ala)
Xg.154969346A>GCA414917614F8c.994T>C (p.Ser332Pro)
c.*870T>C (n.*870T>C)
c.889T>C (p.Ser297Pro)
Xg.154969346A>TCA414917616F8c.994T>A (p.Ser332Thr)
c.*870T>A (n.*870T>A)
c.889T>A (p.Ser297Thr)
Xg.154969347G>ACA519367059F8c.993C>T (p.Ile331=)
c.*869C>T (n.*869C>T)
c.888C>T (p.Ile296=)
Xg.154969347G>CCA414917618F8c.993C>G (p.Ile331Met)
c.*869C>G (n.*869C>G)
c.888C>G (p.Ile296Met)
Xg.154969347G>TCA519367060F8c.993C>A (p.Ile331=)
c.*869C>A (n.*869C>A)
c.888C>A (p.Ile296=)
Xg.154969348A=CA2466848972F8c.992T= (p.Ile331=)
c.*868T= (n.*868T=)
c.887T= (p.Ile296=)
Xg.154969348A>CCA414917623F8c.992T>G (p.Ile331Ser)
c.*868T>G (n.*868T>G)
c.887T>G (p.Ile296Ser)
Xg.154969348A>GCA414917621F8c.992T>C (p.Ile331Thr)
c.*868T>C (n.*868T>C)
c.887T>C (p.Ile296Thr)
 ClinVar dbSNP
Xg.154969348A>TCA414917620F8c.992T>A (p.Ile331Asn)
c.*868T>A (n.*868T>A)
c.887T>A (p.Ile296Asn)
Xg.154969350_154969351delCA2695237418F8c.991_992del (p.Ile331LeufsTer6)
c.*867_*868del (n.*867_*868del)
c.886_887del (p.Ile296LeufsTer6)
Xg.154969349T>ACA414917625F8c.991A>T (p.Ile331Phe)
c.*867A>T (n.*867A>T)
c.886A>T (p.Ile296Phe)
 dbSNP
Xg.154969349T>CCA414917629F8c.991A>G (p.Ile331Val)
c.*867A>G (n.*867A>G)
c.886A>G (p.Ile296Val)
Xg.154969349T>GCA414917627F8c.991A>C (p.Ile331Leu)
c.*867A>C (n.*867A>C)
c.886A>C (p.Ile296Leu)
Xg.154969349T=CA2466848973F8c.991A= (p.Ile331=)
c.*867A= (n.*867A=)
c.886A= (p.Ile296=)
Xg.154969350A>CCA414917631F8c.990T>G (p.His330Gln)
c.*866T>G (n.*866T>G)
c.885T>G (p.His295Gln)
Xg.154969350A>GCA519367074F8c.990T>C (p.His330=)
c.*866T>C (n.*866T>C)
c.885T>C (p.His295=)
Xg.154969350A>TCA414917633F8c.990T>A (p.His330Gln)
c.*866T>A (n.*866T>A)
c.885T>A (p.His295Gln)
Xg.154969351T>ACA414917634F8c.989A>T (p.His330Leu)
c.*865A>T (n.*865A>T)
c.884A>T (p.His295Leu)
Xg.154969351T>CCA10568521F8c.989A>G (p.His330Arg)
c.*865A>G (n.*865A>G)
c.884A>G (p.His295Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969351T>GCA414917638F8c.989A>C (p.His330Pro)
c.*865A>C (n.*865A>C)
c.884A>C (p.His295Pro)
 gnomAD v4
Xg.154969351T=CA2466848974F8c.989A= (p.His330=)
c.*865A= (n.*865A=)
c.884A= (p.His295=)
Xg.154969352G>ACA414917639F8c.988C>T (p.His330Tyr)
c.*864C>T (n.*864C>T)
c.883C>T (p.His295Tyr)
Xg.154969352G>CCA414917642F8c.988C>G (p.His330Asp)
c.*864C>G (n.*864C>G)
c.883C>G (p.His295Asp)
Xg.154969352G>TCA414917644F8c.988C>A (p.His330Asn)
c.*864C>A (n.*864C>A)
c.883C>A (p.His295Asn)
Xg.154969353A>CCA414917646F8c.987T>G (p.Cys329Trp)
c.*863T>G (n.*863T>G)
c.882T>G (p.Cys294Trp)
Xg.154969353A>GCA519367089F8c.987T>C (p.Cys329=)
c.*863T>C (n.*863T>C)
c.882T>C (p.Cys294=)
Xg.154969353A>TCA414917648F8c.987T>A (p.Cys329Ter)
c.*863T>A (n.*863T>A)
c.882T>A (p.Cys294Ter)
Xg.154969354C>ACA414917650F8c.986G>T (p.Cys329Phe)
c.*862G>T (n.*862G>T)
c.881G>T (p.Cys294Phe)
 dbSNP
Xg.154969354C=CA2466848975F8c.986G= (p.Cys329=)
c.*862G= (n.*862G=)
c.881G= (p.Cys294=)
Xg.154969354C>GCA414917652F8c.986G>C (p.Cys329Ser)
c.*862G>C (n.*862G>C)
c.881G>C (p.Cys294Ser)
Xg.154969354C>TCA255089F8c.986G>A (p.Cys329Tyr)
c.*862G>A (n.*862G>A)
c.881G>A (p.Cys294Tyr)
 ClinVar dbSNP
Xg.154969355A=CA2466848976F8c.985T= (p.Cys329=)
c.*861T= (n.*861T=)
c.880T= (p.Cys294=)
Xg.154969355A>CCA414917658F8c.985T>G (p.Cys329Gly)
c.*861T>G (n.*861T>G)
c.880T>G (p.Cys294Gly)
Xg.154969355A>GCA255034F8c.985T>C (p.Cys329Arg)
c.*861T>C (n.*861T>C)
c.880T>C (p.Cys294Arg)
 ClinVar dbSNP
Xg.154969355A>TCA414917656F8c.985T>A (p.Cys329Ser)
c.*861T>A (n.*861T>A)
c.880T>A (p.Cys294Ser)
Xg.154969358dupCA2695237420F8c.985dup (p.Cys329LeufsTer9)
c.*861dup (n.*861dup)
c.880dup (p.Cys294LeufsTer9)
Xg.154969356A=CA2466848977F8c.984T= (p.Phe328=)
c.*860T= (n.*860T=)
c.879T= (p.Phe293=)
Xg.154969356A>CCA414917660F8c.984T>G (p.Phe328Leu)
c.*860T>G (n.*860T>G)
c.879T>G (p.Phe293Leu)
 ClinVar dbSNP gnomAD v4
Xg.154969356A>GCA10568522F8c.984T>C (p.Phe328=)
c.*860T>C (n.*860T>C)
c.879T>C (p.Phe293=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154969356A>TCA414917663F8c.984T>A (p.Phe328Leu)
c.*860T>A (n.*860T>A)
c.879T>A (p.Phe293Leu)
Xg.154969357A>CCA414917665F8c.983T>G (p.Phe328Cys)
c.*859T>G (n.*859T>G)
c.878T>G (p.Phe293Cys)
Xg.154969357A>GCA414917667F8c.983T>C (p.Phe328Ser)
c.*859T>C (n.*859T>C)
c.878T>C (p.Phe293Ser)
Xg.154969357A>TCA414917669F8c.983T>A (p.Phe328Tyr)
c.*859T>A (n.*859T>A)
c.878T>A (p.Phe293Tyr)
Xg.154969358A>CCA414917671F8c.982T>G (p.Phe328Val)
c.*858T>G (n.*858T>G)
c.877T>G (p.Phe293Val)
Xg.154969358A>GCA414917672F8c.982T>C (p.Phe328Leu)
c.*858T>C (n.*858T>C)
c.877T>C (p.Phe293Leu)
Xg.154969358A>TCA414917673F8c.982T>A (p.Phe328Ile)
c.*858T>A (n.*858T>A)
c.877T>A (p.Phe293Ile)
Xg.154969359C>ACA519367110F8c.981G>T (p.Leu327=)
c.*857G>T (n.*857G>T)
c.876G>T (p.Leu292=)
Xg.154969359C>GCA519367111F8c.981G>C (p.Leu327=)
c.*857G>C (n.*857G>C)
c.876G>C (p.Leu292=)
 gnomAD v4
Xg.154969359C>TCA519367112F8c.981G>A (p.Leu327=)
c.*857G>A (n.*857G>A)
c.876G>A (p.Leu292=)
Xg.154969360A=CA2466848978F8c.980T= (p.Leu327=)
c.*856T= (n.*856T=)
c.875T= (p.Leu292=)
Xg.154969360A>CCA414917675F8c.980T>G (p.Leu327Arg)
c.*856T>G (n.*856T>G)
c.875T>G (p.Leu292Arg)
Xg.154969360A>GCA255086F8c.980T>C (p.Leu327Pro)
c.*856T>C (n.*856T>C)
c.875T>C (p.Leu292Pro)
 ClinVar dbSNP
Xg.154969360A>TCA414917674F8c.980T>A (p.Leu327Gln)
c.*856T>A (n.*856T>A)
c.875T>A (p.Leu292Gln)
 dbSNP
Xg.154969362_154969364delCA2695237422F8c.978_980del (p.Leu327del)
c.*854_*856del (n.*854_*856del)
c.873_875del (p.Leu292del)
Xg.154969361G>ACA519367114F8c.979C>T (p.Leu327=)
c.*855C>T (n.*855C>T)
c.874C>T (p.Leu292=)
Xg.154969361G>CCA414917679F8c.979C>G (p.Leu327Val)
c.*855C>G (n.*855C>G)
c.874C>G (p.Leu292Val)
 ClinVar dbSNP gnomAD v4
Xg.154969361G=CA2466848979F8c.979C= (p.Leu327=)
c.*855C= (n.*855C=)
c.874C= (p.Leu292=)
Xg.154969361G>TCA414917680F8c.979C>A (p.Leu327Met)
c.*855C>A (n.*855C>A)
c.874C>A (p.Leu292Met)
Xg.154969362T>ACA519367119F8c.978A>T (p.Leu326=)
c.*854A>T (n.*854A>T)
c.873A>T (p.Leu291=)
Xg.154969362T>CCA10568523F8c.978A>G (p.Leu326=)
c.*854A>G (n.*854A>G)
c.873A>G (p.Leu291=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969362T>GCA519367121F8c.978A>C (p.Leu326=)
c.*854A>C (n.*854A>C)
c.873A>C (p.Leu291=)
Xg.154969362T=CA2466848980F8c.978A= (p.Leu326=)
c.*854A= (n.*854A=)
c.873A= (p.Leu291=)
Xg.154969363A>CCA414917681F8c.977T>G (p.Leu326Arg)
c.*853T>G (n.*853T>G)
c.872T>G (p.Leu291Arg)
Xg.154969363A>GCA414917682F8c.977T>C (p.Leu326Pro)
c.*853T>C (n.*853T>C)
c.872T>C (p.Leu291Pro)
Xg.154969363A>TCA414917683F8c.977T>A (p.Leu326Gln)
c.*853T>A (n.*853T>A)
c.872T>A (p.Leu291Gln)
Xg.154969364G>ACA519367129F8c.976C>T (p.Leu326=)
c.*852C>T (n.*852C>T)
c.871C>T (p.Leu291=)
Xg.154969364G>CCA414917684F8c.976C>G (p.Leu326Val)
c.*852C>G (n.*852C>G)
c.871C>G (p.Leu291Val)
Xg.154969364G>TCA414917686F8c.976C>A (p.Leu326Ile)
c.*852C>A (n.*852C>A)
c.871C>A (p.Leu291Ile)
Xg.154969365A>CCA414917689F8c.975T>G (p.Phe325Leu)
c.*851T>G (n.*851T>G)
c.870T>G (p.Phe290Leu)
Xg.154969365A>GCA519367134F8c.975T>C (p.Phe325=)
c.*851T>C (n.*851T>C)
c.870T>C (p.Phe290=)
Xg.154969365A>TCA414917690F8c.975T>A (p.Phe325Leu)
c.*851T>A (n.*851T>A)
c.870T>A (p.Phe290Leu)
Xg.154969366_154969367delCA2695237426F8c.974_975del (p.Phe325SerfsTer12)
c.*850_*851del (n.*850_*851del)
c.869_870del (p.Phe290SerfsTer12)
Xg.154969366A>CCA414917696F8c.974T>G (p.Phe325Cys)
c.*850T>G (n.*850T>G)
c.869T>G (p.Phe290Cys)
Xg.154969366A>GCA414917694F8c.974T>C (p.Phe325Ser)
c.*850T>C (n.*850T>C)
c.869T>C (p.Phe290Ser)
Xg.154969366A>TCA414917692F8c.974T>A (p.Phe325Tyr)
c.*850T>A (n.*850T>A)
c.869T>A (p.Phe290Tyr)
Xg.154969367A>CCA414917698F8c.973T>G (p.Phe325Val)
c.*849T>G (n.*849T>G)
c.868T>G (p.Phe290Val)
Xg.154969367A>GCA414917699F8c.973T>C (p.Phe325Leu)
c.*849T>C (n.*849T>C)
c.868T>C (p.Phe290Leu)
Xg.154969367A>TCA414917700F8c.973T>A (p.Phe325Ile)
c.*849T>A (n.*849T>A)
c.868T>A (p.Phe290Ile)
Xg.154969368C>ACA414917702F8c.972G>T (p.Gln324His)
c.*848G>T (n.*848G>T)
c.867G>T (p.Gln289His)
Xg.154969368C>GCA414917703F8c.972G>C (p.Gln324His)
c.*848G>C (n.*848G>C)
c.867G>C (p.Gln289His)
Xg.154969368C>TCA519367140F8c.972G>A (p.Gln324=)
c.*848G>A (n.*848G>A)
c.867G>A (p.Gln289=)
Xg.154969369T>ACA414917705F8c.971A>T (p.Gln324Leu)
c.*847A>T (n.*847A>T)
c.866A>T (p.Gln289Leu)
Xg.154969369T>CCA414917707F8c.971A>G (p.Gln324Arg)
c.*847A>G (n.*847A>G)
c.866A>G (p.Gln289Arg)
Xg.154969369T>GCA414917709F8c.971A>C (p.Gln324Pro)
c.*847A>C (n.*847A>C)
c.866A>C (p.Gln289Pro)
Xg.154969370G>ACA414917712F8c.970C>T (p.Gln324Ter)
c.*846C>T (n.*846C>T)
c.865C>T (p.Gln289Ter)
Xg.154969370G>CCA414917713F8c.970C>G (p.Gln324Glu)
c.*846C>G (n.*846C>G)
c.865C>G (p.Gln289Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969370G=CA2466848981F8c.970C= (p.Gln324=)
c.*846C= (n.*846C=)
c.865C= (p.Gln289=)
Xg.154969370G>TCA501127F8c.970C>A (p.Gln324Lys)
c.*846C>A (n.*846C>A)
c.865C>A (p.Gln289Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969371T>ACA519367150F8c.969A>T (p.Gly323=)
c.*845A>T (n.*845A>T)
c.864A>T (p.Gly288=)
Xg.154969371T>CCA519367152F8c.969A>G (p.Gly323=)
c.*845A>G (n.*845A>G)
c.864A>G (p.Gly288=)
Xg.154969371T>GCA519367153F8c.969A>C (p.Gly323=)
c.*845A>C (n.*845A>C)
c.864A>C (p.Gly288=)
Xg.154969372C>ACA414917720F8c.968G>T (p.Gly323Val)
c.*844G>T (n.*844G>T)
c.863G>T (p.Gly288Val)
Xg.154969372C>GCA414917719F8c.968G>C (p.Gly323Ala)
c.*844G>C (n.*844G>C)
c.863G>C (p.Gly288Ala)
Xg.154969372C>TCA414917717F8c.968G>A (p.Gly323Glu)
c.*844G>A (n.*844G>A)
c.863G>A (p.Gly288Glu)
Xg.154969373C>ACA414917726F8c.967G>T (p.Gly323Ter)
c.*843G>T (n.*843G>T)
c.862G>T (p.Gly288Ter)
Xg.154969373C>GCA414917723F8c.967G>C (p.Gly323Arg)
c.*843G>C (n.*843G>C)
c.862G>C (p.Gly288Arg)
Xg.154969373C>TCA414917724F8c.967G>A (p.Gly323Arg)
c.*843G>A (n.*843G>A)
c.862G>A (p.Gly288Arg)
 ClinVar dbSNP
Xg.154969374A=CA2466848982F8c.966T= (p.Leu322=)
c.*842T= (n.*842T=)
c.861T= (p.Leu287=)
Xg.154969374A>CCA519367166F8c.966T>G (p.Leu322=)
c.*842T>G (n.*842T>G)
c.861T>G (p.Leu287=)
Xg.154969374A>GCA519367170F8c.966T>C (p.Leu322=)
c.*842T>C (n.*842T>C)
c.861T>C (p.Leu287=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969374A>TCA519367168F8c.966T>A (p.Leu322=)
c.*842T>A (n.*842T>A)
c.861T>A (p.Leu287=)
Xg.154969375A>CCA414917728F8c.965T>G (p.Leu322Arg)
c.*841T>G (n.*841T>G)
c.860T>G (p.Leu287Arg)
Xg.154969375A>GCA414917733F8c.965T>C (p.Leu322Pro)
c.*841T>C (n.*841T>C)
c.860T>C (p.Leu287Pro)
Xg.154969375A>TCA414917735F8c.965T>A (p.Leu322His)
c.*841T>A (n.*841T>A)
c.860T>A (p.Leu287His)
Xg.154969376G>ACA414917737F8c.964C>T (p.Leu322Phe)
c.*840C>T (n.*840C>T)
c.859C>T (p.Leu287Phe)
Xg.154969376G>CCA414917739F8c.964C>G (p.Leu322Val)
c.*840C>G (n.*840C>G)
c.859C>G (p.Leu287Val)
Xg.154969376G>TCA414917741F8c.964C>A (p.Leu322Ile)
c.*840C>A (n.*840C>A)
c.859C>A (p.Leu287Ile)
Xg.154969377G>ACA519367178F8c.963C>T (p.Asp321=)
c.*839C>T (n.*839C>T)
c.858C>T (p.Asp286=)
 gnomAD v4
Xg.154969377G>CCA414917743F8c.963C>G (p.Asp321Glu)
c.*839C>G (n.*839C>G)
c.858C>G (p.Asp286Glu)
Xg.154969377G>TCA414917745F8c.963C>A (p.Asp321Glu)
c.*839C>A (n.*839C>A)
c.858C>A (p.Asp286Glu)
Xg.154969378T>ACA414917747F8c.962A>T (p.Asp321Val)
c.*838A>T (n.*838A>T)
c.857A>T (p.Asp286Val)
Xg.154969378T>CCA414917749F8c.962A>G (p.Asp321Gly)
c.*838A>G (n.*838A>G)
c.857A>G (p.Asp286Gly)
 gnomAD v4
Xg.154969378T>GCA414917750F8c.962A>C (p.Asp321Ala)
c.*838A>C (n.*838A>C)
c.857A>C (p.Asp286Ala)
Xg.154969379C>ACA414917756F8c.961G>T (p.Asp321Tyr)
c.*837G>T (n.*837G>T)
c.856G>T (p.Asp286Tyr)
Xg.154969379C>GCA414917752F8c.961G>C (p.Asp321His)
c.*837G>C (n.*837G>C)
c.856G>C (p.Asp286His)
Xg.154969379C>TCA414917754F8c.961G>A (p.Asp321Asn)
c.*837G>A (n.*837G>A)
c.856G>A (p.Asp286Asn)
Xg.154969380C>ACA414917757F8c.960G>T (p.Met320Ile)
c.*836G>T (n.*836G>T)
c.855G>T (p.Met285Ile)
Xg.154969380C>GCA414917759F8c.960G>C (p.Met320Ile)
c.*836G>C (n.*836G>C)
c.855G>C (p.Met285Ile)
Xg.154969380C>TCA414917760F8c.960G>A (p.Met320Ile)
c.*836G>A (n.*836G>A)
c.855G>A (p.Met285Ile)
Xg.154969382_154969384delCA2695237427F8c.958_960del (p.Met320del)
c.*834_*836del (n.*834_*836del)
c.853_855del (p.Met285del)
Xg.154969381A>CCA414917761F8c.959T>G (p.Met320Arg)
c.*835T>G (n.*835T>G)
c.854T>G (p.Met285Arg)
Xg.154969381A>GCA414917762F8c.959T>C (p.Met320Thr)
c.*835T>C (n.*835T>C)
c.854T>C (p.Met285Thr)
Xg.154969381A>TCA414917764F8c.959T>A (p.Met320Lys)
c.*835T>A (n.*835T>A)
c.854T>A (p.Met285Lys)
Xg.154969382T>ACA414917766F8c.958A>T (p.Met320Leu)
c.*834A>T (n.*834A>T)
c.853A>T (p.Met285Leu)
Xg.154969382T>CCA414917767F8c.958A>G (p.Met320Val)
c.*834A>G (n.*834A>G)
c.853A>G (p.Met285Val)
Xg.154969382T>GCA414917769F8c.958A>C (p.Met320Leu)
c.*834A>C (n.*834A>C)
c.853A>C (p.Met285Leu)
Xg.154969383_154969391delCA2695237430F8c.950_958del (p.Thr317_Leu319del)
c.*826_*834del (n.*826_*834del)
c.845_853del (p.Thr282_Leu284del)
Xg.154969383C>ACA414917771F8c.957G>T (p.Leu319Phe)
c.*833G>T (n.*833G>T)
c.852G>T (p.Leu284Phe)
Xg.154969383C>GCA414917773F8c.957G>C (p.Leu319Phe)
c.*833G>C (n.*833G>C)
c.852G>C (p.Leu284Phe)
Xg.154969383C>TCA519367203F8c.957G>A (p.Leu319=)
c.*833G>A (n.*833G>A)
c.852G>A (p.Leu284=)
Xg.154969384A>CCA414917774F8c.956T>G (p.Leu319Trp)
c.*832T>G (n.*832T>G)
c.851T>G (p.Leu284Trp)
Xg.154969384A>GCA414917778F8c.956T>C (p.Leu319Ser)
c.*832T>C (n.*832T>C)
c.851T>C (p.Leu284Ser)
Xg.154969384A>TCA414917776F8c.956T>A (p.Leu319Ter)
c.*832T>A (n.*832T>A)
c.851T>A (p.Leu284Ter)
Xg.154969385delCA2695237431F8c.956del (p.Leu319Ter)
c.*832del (n.*832del)
c.851del (p.Leu284Ter)
Xg.154969385A=CA2466848983F8c.955T= (p.Leu319=)
c.*831T= (n.*831T=)
c.850T= (p.Leu284=)
Xg.154969385A>CCA414917780F8c.955T>G (p.Leu319Val)
c.*831T>G (n.*831T>G)
c.850T>G (p.Leu284Val)
Xg.154969385A>GCA519367207F8c.955T>C (p.Leu319=)
c.*831T>C (n.*831T>C)
c.850T>C (p.Leu284=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969385A>TCA414917781F8c.955T>A (p.Leu319Met)
c.*831T>A (n.*831T>A)
c.850T>A (p.Leu284Met)
Xg.154969387_154969388delCA2695237432F8c.954_955del (p.Leu319AspfsTer18)
c.*830_*831del (n.*830_*831del)
c.849_850del (p.Leu284AspfsTer18)
Xg.154969386G>ACA519367209F8c.954C>T (p.Leu318=)
c.*830C>T (n.*830C>T)
c.849C>T (p.Leu283=)
Xg.154969386G>CCA519367210F8c.954C>G (p.Leu318=)
c.*830C>G (n.*830C>G)
c.849C>G (p.Leu283=)
Xg.154969386G>TCA519367211F8c.954C>A (p.Leu318=)
c.*830C>A (n.*830C>A)
c.849C>A (p.Leu283=)
Xg.154969387delCA2695237433F8c.953del (p.Leu318ProfsTer2)
c.*829del (n.*829del)
c.848del (p.Leu283ProfsTer2)
Xg.154969387A>CCA414917783F8c.953T>G (p.Leu318Arg)
c.*829T>G (n.*829T>G)
c.848T>G (p.Leu283Arg)
Xg.154969387A>GCA414917784F8c.953T>C (p.Leu318Pro)
c.*829T>C (n.*829T>C)
c.848T>C (p.Leu283Pro)
 gnomAD v4
Xg.154969387A>TCA414917786F8c.953T>A (p.Leu318His)
c.*829T>A (n.*829T>A)
c.848T>A (p.Leu283His)
Xg.154969388delCA2695237435F8c.952del (p.Leu318SerfsTer2)
c.*828del (n.*828del)
c.847del (p.Leu283SerfsTer2)
Xg.154969388G>ACA414917789F8c.952C>T (p.Leu318Phe)
c.*828C>T (n.*828C>T)
c.847C>T (p.Leu283Phe)
 dbSNP gnomAD v4
Xg.154969388G>CCA414917790F8c.952C>G (p.Leu318Val)
c.*828C>G (n.*828C>G)
c.847C>G (p.Leu283Val)
Xg.154969388G=CA2466848984F8c.952C= (p.Leu318=)
c.*828C= (n.*828C=)
c.847C= (p.Leu283=)
Xg.154969388G>TCA414917792F8c.952C>A (p.Leu318Ile)
c.*828C>A (n.*828C>A)
c.847C>A (p.Leu283Ile)
Xg.154969389T>ACA519367218F8c.951A>T (p.Thr317=)
c.*827A>T (n.*827A>T)
c.846A>T (p.Thr282=)
Xg.154969389T>CCA519367220F8c.951A>G (p.Thr317=)
c.*827A>G (n.*827A>G)
c.846A>G (p.Thr282=)
Xg.154969389T>GCA519367222F8c.951A>C (p.Thr317=)
c.*827A>C (n.*827A>C)
c.846A>C (p.Thr282=)
Xg.154969391_154969394delCA2695237437F8c.948_951del (p.Gln316HisfsTer3)
c.*824_*827del (n.*824_*827del)
c.843_846del (p.Gln281HisfsTer3)
Xg.154969390G>ACA414917793F8c.950C>T (p.Thr317Ile)
c.*826C>T (n.*826C>T)
c.845C>T (p.Thr282Ile)
Xg.154969390G>CCA414917795F8c.950C>G (p.Thr317Arg)
c.*826C>G (n.*826C>G)
c.845C>G (p.Thr282Arg)
Xg.154969390G>TCA414917797F8c.950C>A (p.Thr317Lys)
c.*826C>A (n.*826C>A)
c.845C>A (p.Thr282Lys)
Xg.154969391T>ACA414917801F8c.949A>T (p.Thr317Ser)
c.*825A>T (n.*825A>T)
c.844A>T (p.Thr282Ser)
Xg.154969391T>CCA414917799F8c.949A>G (p.Thr317Ala)
c.*825A>G (n.*825A>G)
c.844A>G (p.Thr282Ala)
Xg.154969391T>GCA414917800F8c.949A>C (p.Thr317Pro)
c.*825A>C (n.*825A>C)
c.844A>C (p.Thr282Pro)
Xg.154969393dupCA2695237438F8c.949dup (p.Thr317AsnfsTer21)
c.*825dup (n.*825dup)
c.844dup (p.Thr282AsnfsTer21)
Xg.154969392T>ACA414917802F8c.948A>T (p.Gln316His)
c.*824A>T (n.*824A>T)
c.843A>T (p.Gln281His)
Xg.154969392T>CCA519367230F8c.948A>G (p.Gln316=)
c.*824A>G (n.*824A>G)
c.843A>G (p.Gln281=)
Xg.154969392T>GCA414917803F8c.948A>C (p.Gln316His)
c.*824A>C (n.*824A>C)
c.843A>C (p.Gln281His)
Xg.154969393T>ACA414917804F8c.947A>T (p.Gln316Leu)
c.*823A>T (n.*823A>T)
c.842A>T (p.Gln281Leu)
Xg.154969393T>CCA414917807F8c.947A>G (p.Gln316Arg)
c.*823A>G (n.*823A>G)
c.842A>G (p.Gln281Arg)
Xg.154969393T>GCA414917809F8c.947A>C (p.Gln316Pro)
c.*823A>C (n.*823A>C)
c.842A>C (p.Gln281Pro)
Xg.154969394G>ACA414917812F8c.946C>T (p.Gln316Ter)
c.*822C>T (n.*822C>T)
c.841C>T (p.Gln281Ter)
Xg.154969394G>CCA414917813F8c.946C>G (p.Gln316Glu)
c.*822C>G (n.*822C>G)
c.841C>G (p.Gln281Glu)
 gnomAD v4
Xg.154969394G>TCA414917815F8c.946C>A (p.Gln316Lys)
c.*822C>A (n.*822C>A)
c.841C>A (p.Gln281Lys)
Xg.154969395A>CCA519367239F8c.945T>G (p.Ala315=)
c.*821T>G (n.*821T>G)
c.840T>G (p.Ala280=)
Xg.154969395A>GCA519367242F8c.945T>C (p.Ala315=)
c.*821T>C (n.*821T>C)
c.840T>C (p.Ala280=)
Xg.154969395A>TCA519367243F8c.945T>A (p.Ala315=)
c.*821T>A (n.*821T>A)
c.840T>A (p.Ala280=)
Xg.154969397_154969399dupCA2695237441F8c.943_945dup (p.Ala315_Gln316insAla)
c.*819_*821dup (n.*819_*821dup)
c.838_840dup (p.Ala280_Gln281insAla)
Xg.154969396G>ACA414917816F8c.944C>T (p.Ala315Val)
c.*820C>T (n.*820C>T)
c.839C>T (p.Ala280Val)
 gnomAD v4
Xg.154969396G>CCA414917817F8c.944C>G (p.Ala315Gly)
c.*820C>G (n.*820C>G)
c.839C>G (p.Ala280Gly)
 ClinVar dbSNP
Xg.154969396G>TCA414917818F8c.944C>A (p.Ala315Asp)
c.*820C>A (n.*820C>A)
c.839C>A (p.Ala280Asp)
Xg.154969396_154969397delinsGCCA2466848985F8c.943_944delinsGC (p.Ala315=)
c.*819_*820delinsGC (n.*819_*820delinsGC)
c.838_839delinsGC (p.Ala280=)
Xg.154969397delCA255085F8c.943del (p.Ala315LeufsTer5)
c.*819del (n.*819del)
c.838del (p.Ala280LeufsTer5)
 ClinVar dbSNP
Xg.154969397C>ACA414917823F8c.943G>T (p.Ala315Ser)
c.*819G>T (n.*819G>T)
c.838G>T (p.Ala280Ser)
Xg.154969397C>GCA414917825F8c.943G>C (p.Ala315Pro)
c.*819G>C (n.*819G>C)
c.838G>C (p.Ala280Pro)
Xg.154969397C>TCA414917820F8c.943G>A (p.Ala315Thr)
c.*819G>A (n.*819G>A)
c.838G>A (p.Ala280Thr)
Xg.154969398delCA2695237443F8c.942del (p.Ala315LeufsTer5)
c.*818del (n.*818del)
c.837del (p.Ala280LeufsTer5)
Xg.154969398A>CCA519367246F8c.942T>G (p.Thr314=)
c.*818T>G (n.*818T>G)
c.837T>G (p.Thr279=)
Xg.154969398A>GCA519367247F8c.942T>C (p.Thr314=)
c.*818T>C (n.*818T>C)
c.837T>C (p.Thr279=)
Xg.154969398A>TCA519367248F8c.942T>A (p.Thr314=)
c.*818T>A (n.*818T>A)
c.837T>A (p.Thr279=)
Xg.154969399G>ACA414917829F8c.941C>T (p.Thr314Ile)
c.*817C>T (n.*817C>T)
c.836C>T (p.Thr279Ile)
Xg.154969399G>CCA414917827F8c.941C>G (p.Thr314Ser)
c.*817C>G (n.*817C>G)
c.836C>G (p.Thr279Ser)
Xg.154969399G=CA2466848986F8c.941C= (p.Thr314=)
c.*817C= (n.*817C=)
c.836C= (p.Thr279=)
Xg.154969399G>TCA414917831F8c.941C>A (p.Thr314Asn)
c.*817C>A (n.*817C>A)
c.836C>A (p.Thr279Asn)
 dbSNP
Xg.154969400T>ACA414917833F8c.940A>T (p.Thr314Ser)
c.*816A>T (n.*816A>T)
c.835A>T (p.Thr279Ser)
Xg.154969400T>CCA255084F8c.940A>G (p.Thr314Ala)
c.*816A>G (n.*816A>G)
c.835A>G (p.Thr279Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.154969400T>GCA414917836F8c.940A>C (p.Thr314Pro)
c.*816A>C (n.*816A>C)
c.835A>C (p.Thr279Pro)
 ClinVar dbSNP
Xg.154969400T=CA2466848987F8c.940A= (p.Thr314=)
c.*816A= (n.*816A=)
c.835A= (p.Thr279=)
Xg.154969401A>CCA519367261F8c.939T>G (p.Leu313=)
c.*815T>G (n.*815T>G)
c.834T>G (p.Leu278=)
Xg.154969401A>GCA519367264F8c.939T>C (p.Leu313=)
c.*815T>C (n.*815T>C)
c.834T>C (p.Leu278=)
Xg.154969401A>TCA519367266F8c.939T>A (p.Leu313=)
c.*815T>A (n.*815T>A)
c.834T>A (p.Leu278=)
Xg.154969403_154969406delCA2695237445F8c.936_939del (p.Phe312LeufsTer7)
c.*812_*815del (n.*812_*815del)
c.831_834del (p.Phe277LeufsTer7)
Xg.154969402A>CCA414917837F8c.938T>G (p.Leu313Arg)
c.*814T>G (n.*814T>G)
c.833T>G (p.Leu278Arg)
Xg.154969402A>GCA414917839F8c.938T>C (p.Leu313Pro)
c.*814T>C (n.*814T>C)
c.833T>C (p.Leu278Pro)
Xg.154969402A>TCA414917841F8c.938T>A (p.Leu313His)
c.*814T>A (n.*814T>A)
c.833T>A (p.Leu278His)
Xg.154969403G>ACA414917843F8c.937C>T (p.Leu313Phe)
c.*813C>T (n.*813C>T)
c.832C>T (p.Leu278Phe)
 COSMIC COSMIC
Xg.154969403G>CCA414917845F8c.937C>G (p.Leu313Val)
c.*813C>G (n.*813C>G)
c.832C>G (p.Leu278Val)
Xg.154969403G>TCA414917847F8c.937C>A (p.Leu313Ile)
c.*813C>A (n.*813C>A)
c.832C>A (p.Leu278Ile)
Xg.154969404G>ACA519367272F8c.936C>T (p.Phe312=)
c.*812C>T (n.*812C>T)
c.831C>T (p.Phe277=)
Xg.154969404G>CCA414917848F8c.936C>G (p.Phe312Leu)
c.*812C>G (n.*812C>G)
c.831C>G (p.Phe277Leu)
Xg.154969404G>TCA414917850F8c.936C>A (p.Phe312Leu)
c.*812C>A (n.*812C>A)
c.831C>A (p.Phe277Leu)
Xg.154969405A=CA2466848988F8c.935T= (p.Phe312=)
c.*811T= (n.*811T=)
c.830T= (p.Phe277=)
Xg.154969405A>CCA414917855F8c.935T>G (p.Phe312Cys)
c.*811T>G (n.*811T>G)
c.830T>G (p.Phe277Cys)
Xg.154969405A>GCA255083F8c.935T>C (p.Phe312Ser)
c.*811T>C (n.*811T>C)
c.830T>C (p.Phe277Ser)
 ClinVar dbSNP gnomAD v4
Xg.154969405A>TCA414917852F8c.935T>A (p.Phe312Tyr)
c.*811T>A (n.*811T>A)
c.830T>A (p.Phe277Tyr)
Xg.154969407delCA2695237448F8c.935del (p.Phe312SerfsTer8)
c.*811del (n.*811del)
c.830del (p.Phe277SerfsTer8)
Xg.154969406_154969407delCA2695237449F8c.934_935del (p.Phe312ProfsTer25)
c.*810_*811del (n.*810_*811del)
c.829_830del (p.Phe277ProfsTer25)
Xg.154969406A>CCA414917856F8c.934T>G (p.Phe312Val)
c.*810T>G (n.*810T>G)
c.829T>G (p.Phe277Val)
Xg.154969406A>GCA414917857F8c.934T>C (p.Phe312Leu)
c.*810T>C (n.*810T>C)
c.829T>C (p.Phe277Leu)
Xg.154969406A>TCA414917858F8c.934T>A (p.Phe312Ile)
c.*810T>A (n.*810T>A)
c.829T>A (p.Phe277Ile)
Xg.154969407A=CA2466848989F8c.933T= (p.Thr311=)
c.*809T= (n.*809T=)
c.828T= (p.Thr276=)
Xg.154969407A>CCA519367289F8c.933T>G (p.Thr311=)
c.*809T>G (n.*809T>G)
c.828T>G (p.Thr276=)
Xg.154969407A>GCA519367291F8c.933T>C (p.Thr311=)
c.*809T>C (n.*809T>C)
c.828T>C (p.Thr276=)
 gnomAD v4
Xg.154969407A>TCA10568524F8c.933T>A (p.Thr311=)
c.*809T>A (n.*809T>A)
c.828T>A (p.Thr276=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154969408G>ACA414917860F8c.932C>T (p.Thr311Ile)
c.*808C>T (n.*808C>T)
c.827C>T (p.Thr276Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969408G>CCA414917862F8c.932C>G (p.Thr311Ser)
c.*808C>G (n.*808C>G)
c.827C>G (p.Thr276Ser)
Xg.154969408G=CA2466848990F8c.932C= (p.Thr311=)
c.*808C= (n.*808C=)
c.827C= (p.Thr276=)
Xg.154969408G>TCA414917865F8c.932C>A (p.Thr311Asn)
c.*808C>A (n.*808C>A)
c.827C>A (p.Thr276Asn)
Xg.154969409T>ACA414917868F8c.931A>T (p.Thr311Ser)
c.*807A>T (n.*807A>T)
c.826A>T (p.Thr276Ser)
Xg.154969409T>CCA414917870F8c.931A>G (p.Thr311Ala)
c.*807A>G (n.*807A>G)
c.826A>G (p.Thr276Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969409T>GCA414917872F8c.931A>C (p.Thr311Pro)
c.*807A>C (n.*807A>C)
c.826A>C (p.Thr276Pro)
Xg.154969409T=CA2466848991F8c.931A= (p.Thr311=)
c.*807A= (n.*807A=)
c.826A= (p.Thr276=)
Xg.154969410T>ACA519367301F8c.930A>T (p.Ile310=)
c.*806A>T (n.*806A>T)
c.825A>T (p.Ile275=)
Xg.154969410T>CCA414917874F8c.930A>G (p.Ile310Met)
c.*806A>G (n.*806A>G)
c.825A>G (p.Ile275Met)
 COSMIC COSMIC
Xg.154969410T>GCA519367305F8c.930A>C (p.Ile310=)
c.*806A>C (n.*806A>C)
c.825A>C (p.Ile275=)
Xg.154969411A>CCA414917878F8c.929T>G (p.Ile310Arg)
c.*805T>G (n.*805T>G)
c.824T>G (p.Ile275Arg)
Xg.154969411A>GCA414917877F8c.929T>C (p.Ile310Thr)
c.*805T>C (n.*805T>C)
c.824T>C (p.Ile275Thr)
Xg.154969411A>TCA414917876F8c.929T>A (p.Ile310Lys)
c.*805T>A (n.*805T>A)
c.824T>A (p.Ile275Lys)
Xg.154969412T>ACA414917880F8c.928A>T (p.Ile310Leu)
c.*804A>T (n.*804A>T)
c.823A>T (p.Ile275Leu)
Xg.154969412T>CCA414917882F8c.928A>G (p.Ile310Val)
c.*804A>G (n.*804A>G)
c.823A>G (p.Ile275Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154969412T>GCA414917883F8c.928A>C (p.Ile310Leu)
c.*804A>C (n.*804A>C)
c.823A>C (p.Ile275Leu)
Xg.154969412T=CA2466848992F8c.928A= (p.Ile310=)
c.*804A= (n.*804A=)
c.823A= (p.Ile275=)
Xg.154969413T>ACA519367322F8c.927A>T (p.Pro309=)
c.*803A>T (n.*803A>T)
c.822A>T (p.Pro274=)
Xg.154969413T>CCA519367320F8c.927A>G (p.Pro309=)
c.*803A>G (n.*803A>G)
c.822A>G (p.Pro274=)
Xg.154969413T>GCA519367315F8c.927A>C (p.Pro309=)
c.*803A>C (n.*803A>C)
c.822A>C (p.Pro274=)
Xg.154969414G>ACA414917885F8c.926C>T (p.Pro309Leu)
c.*802C>T (n.*802C>T)
c.821C>T (p.Pro274Leu)
 ClinVar dbSNP
Xg.154969414G>CCA414917887F8c.926C>G (p.Pro309Arg)
c.*802C>G (n.*802C>G)
c.821C>G (p.Pro274Arg)
Xg.154969414G=CA2466848993F8c.926C= (p.Pro309=)
c.*802C= (n.*802C=)
c.821C= (p.Pro274=)
Xg.154969414G>TCA414917889F8c.926C>A (p.Pro309Gln)
c.*802C>A (n.*802C>A)
c.821C>A (p.Pro274Gln)
Xg.154969415delCA2739149510F8c.926del (p.Pro309GlnfsTer2)
c.*802del (n.*802del)
c.821del (p.Pro274GlnfsTer2)
 dbSNP
Xg.154969415G>ACA414917890F8c.925C>T (p.Pro309Ser)
c.*801C>T (n.*801C>T)
c.820C>T (p.Pro274Ser)
Xg.154969415G>CCA414917892F8c.925C>G (p.Pro309Ala)
c.*801C>G (n.*801C>G)
c.820C>G (p.Pro274Ala)
Xg.154969415G>TCA414917894F8c.925C>A (p.Pro309Thr)
c.*801C>A (n.*801C>A)
c.820C>A (p.Pro274Thr)
Xg.154969416C>ACA519367331F8c.924G>T (p.Ser308=)
c.*800G>T (n.*800G>T)
c.819G>T (p.Ser273=)
Xg.154969416C=CA2466848994F8c.924G= (p.Ser308=)
c.*800G= (n.*800G=)
c.819G= (p.Ser273=)
Xg.154969416C>GCA519367333F8c.924G>C (p.Ser308=)
c.*800G>C (n.*800G>C)
c.819G>C (p.Ser273=)
 gnomAD v4
Xg.154969416C>TCA10568525F8c.924G>A (p.Ser308=)
c.*800G>A (n.*800G>A)
c.819G>A (p.Ser273=)
 dbSNP ExAC gnomAD v4 COSMIC COSMIC
Xg.154969417G>ACA255082F8c.923C>T (p.Ser308Leu)
c.*799C>T (n.*799C>T)
c.818C>T (p.Ser273Leu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.154969417G>CCA414917900F8c.923C>G (p.Ser308Trp)
c.*799C>G (n.*799C>G)
c.818C>G (p.Ser273Trp)
Xg.154969417G=CA2466848995F8c.923C= (p.Ser308=)
c.*799C= (n.*799C=)
c.818C= (p.Ser273=)
Xg.154969417G>TCA414917901F8c.923C>A (p.Ser308Ter)
c.*799C>A (n.*799C>A)
c.818C>A (p.Ser273Ter)
Xg.154969417_154969422delinsGAGATTCA2466848996F8c.918_923delinsAATCTC (p.Glu306=)
c.*794_*799delinsAATCTC (n.*794_*799delinsAATCTC)
c.813_818delinsAATCTC (p.Glu271=)

Number of alleles fetched