Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.113149036_113149044delCA2623809556F10c.986_994del (p.Lys329_Pro331del)
c.976_984del (p.Arg326_Pro328del)
c.982_990del (p.Arg328_Pro330del)
c.854_862del (p.Lys285_Pro287del)
 gnomAD v4
13g.113149035A>CCA388792398F10c.985A>C (p.Lys329Gln)
c.975A>C (p.Ser325=)
c.981A>C (p.Ser327=)
c.853A>C (p.Lys285Gln)
13g.113149035A>GCA388792400F10c.985A>G (p.Lys329Glu)
c.975A>G (p.Ser325=)
c.981A>G (p.Ser327=)
c.853A>G (p.Lys285Glu)
13g.113149035A>TCA388792403F10c.985A>T (p.Lys329Ter)
c.975A>T (p.Ser325=)
c.981A>T (p.Ser327=)
c.853A>T (p.Lys285Ter)
13g.113149036A>CCA388792406F10c.986A>C (p.Lys329Thr)
c.976A>C (p.Arg326=)
c.982A>C (p.Arg328=)
c.854A>C (p.Lys285Thr)
13g.113149036A>GCA388792408F10c.986A>G (p.Lys329Arg)
c.976A>G (p.Arg326Gly)
c.982A>G (p.Arg328Gly)
c.854A>G (p.Lys285Arg)
13g.113149036A>TCA388792411F10c.986A>T (p.Lys329Met)
c.976A>T (p.Arg326Ter)
c.982A>T (p.Arg328Ter)
c.854A>T (p.Lys285Met)
13g.113149037G>ACA388792418F10c.987G>A (p.Lys329=)
c.977G>A (p.Arg326Lys)
c.983G>A (p.Arg328Lys)
c.855G>A (p.Lys285=)
13g.113149037G>CCA388792413F10c.987G>C (p.Lys329Asn)
c.977G>C (p.Arg326Thr)
c.983G>C (p.Arg328Thr)
c.855G>C (p.Lys285Asn)
13g.113149037G>TCA388792416F10c.987G>T (p.Lys329Asn)
c.977G>T (p.Arg326Ile)
c.983G>T (p.Arg328Ile)
c.855G>T (p.Lys285Asn)
13g.113149038A>CCA388792420F10c.988A>C (p.Thr330Pro)
c.978A>C (p.Arg326Ser)
c.984A>C (p.Arg328Ser)
c.856A>C (p.Thr286Pro)
13g.113149038A>GCA388792422F10c.988A>G (p.Thr330Ala)
c.978A>G (p.Arg326=)
c.984A>G (p.Arg328=)
c.856A>G (p.Thr286Ala)
13g.113149038A>TCA388792424F10c.988A>T (p.Thr330Ser)
c.978A>T (p.Arg326Ser)
c.984A>T (p.Arg328Ser)
c.856A>T (p.Thr286Ser)
13g.113149039C>ACA388792426F10c.989C>A (p.Thr330Asn)
c.979C>A (p.Pro327Thr)
c.985C>A (p.Pro329Thr)
c.857C>A (p.Thr286Asn)
13g.113149039C=CA2120140029F10c.989C= (p.Thr330=)
c.979C= (p.Pro327=)
c.985C= (p.Pro329=)
c.857C= (p.Thr286=)
13g.113149039C>GCA388792428F10c.989C>G (p.Thr330Ser)
c.979C>G (p.Pro327Ala)
c.985C>G (p.Pro329Ala)
c.857C>G (p.Thr286Ser)
13g.113149039C>TCA7060658F10c.989C>T (p.Thr330Ile)
c.979C>T (p.Pro327Ser)
c.985C>T (p.Pro329Ser)
c.857C>T (p.Thr286Ile)
 dbSNP ExAC gnomAD v2
13g.113149040C>ACA388792433F10c.990C>A (p.Thr330=)
c.980C>A (p.Pro327His)
c.986C>A (p.Pro329His)
c.858C>A (p.Thr286=)
 COSMIC
13g.113149040C=CA2120140032F10c.990C= (p.Thr330=)
c.980C= (p.Pro327=)
c.986C= (p.Pro329=)
c.858C= (p.Thr286=)
13g.113149040C>GCA388792436F10c.990C>G (p.Thr330=)
c.980C>G (p.Pro327Arg)
c.986C>G (p.Pro329Arg)
c.858C>G (p.Thr286=)
13g.113149040C>TCA388792439F10c.990C>T (p.Thr330=)
c.980C>T (p.Pro327Leu)
c.986C>T (p.Pro329Leu)
c.858C>T (p.Thr286=)
 dbSNP gnomAD v4
13g.113149041C>ACA388792443F10c.991C>A (p.Pro331Thr)
c.981C>A (p.Pro327=)
c.987C>A (p.Pro329=)
c.859C>A (p.Pro287Thr)
13g.113149041C=CA2120140036F10c.991C= (p.Pro331=)
c.981C= (p.Pro327=)
c.987C= (p.Pro329=)
c.859C= (p.Pro287=)
13g.113149041C>GCA388792446F10c.991C>G (p.Pro331Ala)
c.981C>G (p.Pro327=)
c.987C>G (p.Pro329=)
c.859C>G (p.Pro287Ala)
13g.113149041C>TCA388792448F10c.991C>T (p.Pro331Ser)
c.981C>T (p.Pro327=)
c.987C>T (p.Pro329=)
c.859C>T (p.Pro287Ser)
13g.113149042C>ACA388792452F10c.992C>A (p.Pro331His)
c.982C>A (p.Pro328Thr)
c.988C>A (p.Pro330Thr)
c.860C>A (p.Pro287His)
13g.113149042C>GCA388792455F10c.992C>G (p.Pro331Arg)
c.982C>G (p.Pro328Ala)
c.988C>G (p.Pro330Ala)
c.860C>G (p.Pro287Arg)
13g.113149042C>TCA388792450F10c.992C>T (p.Pro331Leu)
c.982C>T (p.Pro328Ser)
c.988C>T (p.Pro330Ser)
c.860C>T (p.Pro287Leu)
 ClinVar dbSNP
13g.113149043_113149046dupCA2120140038F10c.993_996dup (p.Thr333HisfsTer16)
c.983_986dup (p.Pro330IlefsTer?)
c.989_992dup (p.Pro332IlefsTer?)
c.861_864dup (p.Thr289HisfsTer16)
 dbSNP
13g.113149043C>ACA388792460F10c.993C>A (p.Pro331=)
c.983C>A (p.Pro328Gln)
c.989C>A (p.Pro330Gln)
c.861C>A (p.Pro287=)
13g.113149043C=CA2120140039F10c.993C= (p.Pro331=)
c.983C= (p.Pro328=)
c.989C= (p.Pro330=)
c.861C= (p.Pro287=)
13g.113149043C>GCA388792457F10c.993C>G (p.Pro331=)
c.983C>G (p.Pro328Arg)
c.989C>G (p.Pro330Arg)
c.861C>G (p.Pro287=)
13g.113149043C>TCA7060659F10c.993C>T (p.Pro331=)
c.983C>T (p.Pro328Leu)
c.989C>T (p.Pro330Leu)
c.861C>T (p.Pro287=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149044A=CA2120140041F10c.994A= (p.Ile332=)
c.984A= (p.Pro328=)
c.990A= (p.Pro330=)
c.862A= (p.Ile288=)
13g.113149044A>CCA388792466F10c.994A>C (p.Ile332Leu)
c.984A>C (p.Pro328=)
c.990A>C (p.Pro330=)
c.862A>C (p.Ile288Leu)
13g.113149044A>GCA388792469F10c.994A>G (p.Ile332Val)
c.984A>G (p.Pro328=)
c.990A>G (p.Pro330=)
c.862A>G (p.Ile288Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149044A>TCA388792471F10c.994A>T (p.Ile332Phe)
c.984A>T (p.Pro328=)
c.990A>T (p.Pro330=)
c.862A>T (p.Ile288Phe)
13g.113149045T>ACA388792472F10c.995T>A (p.Ile332Asn)
c.985T>A (p.Ser329Thr)
c.991T>A (p.Ser331Thr)
c.863T>A (p.Ile288Asn)
13g.113149045T>CCA388792477F10c.995T>C (p.Ile332Thr)
c.985T>C (p.Ser329Pro)
c.991T>C (p.Ser331Pro)
c.863T>C (p.Ile288Thr)
13g.113149045T>GCA388792480F10c.995T>G (p.Ile332Ser)
c.985T>G (p.Ser329Ala)
c.991T>G (p.Ser331Ala)
c.863T>G (p.Ile288Ser)
13g.113149046C>ACA388792481F10c.996C>A (p.Ile332=)
c.986C>A (p.Ser329Ter)
c.992C>A (p.Ser331Ter)
c.864C>A (p.Ile288=)
13g.113149046C>GCA388792483F10c.996C>G (p.Ile332Met)
c.986C>G (p.Ser329Ter)
c.992C>G (p.Ser331Ter)
c.864C>G (p.Ile288Met)
13g.113149046C>TCA388792485F10c.996C>T (p.Ile332=)
c.986C>T (p.Ser329Leu)
c.992C>T (p.Ser331Leu)
c.864C>T (p.Ile288=)
13g.113149047A>CCA388792487F10c.997A>C (p.Thr333Pro)
c.987A>C (p.Ser329=)
c.993A>C (p.Ser331=)
c.865A>C (p.Thr289Pro)
13g.113149047A>GCA388792490F10c.997A>G (p.Thr333Ala)
c.987A>G (p.Ser329=)
c.993A>G (p.Ser331=)
c.865A>G (p.Thr289Ala)
13g.113149047A>TCA388792491F10c.997A>T (p.Thr333Ser)
c.987A>T (p.Ser329=)
c.993A>T (p.Ser331=)
c.865A>T (p.Thr289Ser)
13g.113149048C>ACA388792498F10c.998C>A (p.Thr333Asn)
c.988C>A (p.Pro330Thr)
c.994C>A (p.Pro332Thr)
c.866C>A (p.Thr289Asn)
 dbSNP gnomAD v3 gnomAD v4
13g.113149048C=CA2120140043F10c.998C= (p.Thr333=)
c.988C= (p.Pro330=)
c.994C= (p.Pro332=)
c.866C= (p.Thr289=)
13g.113149048C>GCA388792495F10c.998C>G (p.Thr333Ser)
c.988C>G (p.Pro330Ala)
c.994C>G (p.Pro332Ala)
c.866C>G (p.Thr289Ser)
13g.113149048C>TCA388792494F10c.998C>T (p.Thr333Ile)
c.988C>T (p.Pro330Ser)
c.994C>T (p.Pro332Ser)
c.866C>T (p.Thr289Ile)
13g.113149049C>ACA388792502F10c.999C>A (p.Thr333=)
c.989C>A (p.Pro330His)
c.995C>A (p.Pro332His)
c.867C>A (p.Thr289=)
13g.113149049C>GCA388792503F10c.999C>G (p.Thr333=)
c.989C>G (p.Pro330Arg)
c.995C>G (p.Pro332Arg)
c.867C>G (p.Thr289=)
13g.113149049C>TCA388792507F10c.999C>T (p.Thr333=)
c.989C>T (p.Pro330Leu)
c.995C>T (p.Pro332Leu)
c.867C>T (p.Thr289=)
 gnomAD v4
13g.113149050T>ACA388792509F10c.1000T>A (p.Phe334Ile)
c.990T>A (p.Pro330=)
c.996T>A (p.Pro332=)
c.868T>A (p.Phe290Ile)
 gnomAD v4
13g.113149050T>CCA388792511F10c.1000T>C (p.Phe334Leu)
c.990T>C (p.Pro330=)
c.996T>C (p.Pro332=)
c.868T>C (p.Phe290Leu)
13g.113149050T>GCA388792513F10c.1000T>G (p.Phe334Val)
c.990T>G (p.Pro330=)
c.996T>G (p.Pro332=)
c.868T>G (p.Phe290Val)
13g.113149051T>ACA388792516F10c.1001T>A (p.Phe334Tyr)
c.991T>A (p.Ser331Thr)
c.997T>A (p.Ser333Thr)
c.869T>A (p.Phe290Tyr)
13g.113149051T>CCA388792518F10c.1001T>C (p.Phe334Ser)
c.991T>C (p.Ser331Pro)
c.997T>C (p.Ser333Pro)
c.869T>C (p.Phe290Ser)
13g.113149051T>GCA388792520F10c.1001T>G (p.Phe334Cys)
c.991T>G (p.Ser331Ala)
c.997T>G (p.Ser333Ala)
c.869T>G (p.Phe290Cys)
13g.113149052C>ACA388792521F10c.1002C>A (p.Phe334Leu)
c.992C>A (p.Ser331Tyr)
c.998C>A (p.Ser333Tyr)
c.870C>A (p.Phe290Leu)
13g.113149052C>GCA388792523F10c.1002C>G (p.Phe334Leu)
c.992C>G (p.Ser331Cys)
c.998C>G (p.Ser333Cys)
c.870C>G (p.Phe290Leu)
 gnomAD v4
13g.113149052C>TCA388792526F10c.1002C>T (p.Phe334=)
c.992C>T (p.Ser331Phe)
c.998C>T (p.Ser333Phe)
c.870C>T (p.Phe290=)
13g.113149053C>ACA388792532F10c.1003C>A (p.Arg335Ser)
c.993C>A (p.Ser331=)
c.999C>A (p.Ser333=)
c.871C>A (p.Arg291Ser)
13g.113149053C=CA2120140045F10c.1003C= (p.Arg335=)
c.993C= (p.Ser331=)
c.999C= (p.Ser333=)
c.871C= (p.Arg291=)
13g.113149053C>GCA388792530F10c.1003C>G (p.Arg335Gly)
c.993C>G (p.Ser331=)
c.999C>G (p.Ser333=)
c.871C>G (p.Arg291Gly)
13g.113149053C>TCA7060660F10c.1003C>T (p.Arg335Cys)
c.993C>T (p.Ser331=)
c.999C>T (p.Ser333=)
c.871C>T (p.Arg291Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149054G>ACA7060661F10c.1004G>A (p.Arg335His)
c.994G>A (p.Ala332Thr)
c.1000G>A (p.Ala334Thr)
c.872G>A (p.Arg291His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149054G>CCA388792537F10c.1004G>C (p.Arg335Pro)
c.994G>C (p.Ala332Pro)
c.1000G>C (p.Ala334Pro)
c.872G>C (p.Arg291Pro)
 COSMIC
13g.113149054G=CA2120140055F10c.1004G= (p.Arg335=)
c.994G= (p.Ala332=)
c.1000G= (p.Ala334=)
c.872G= (p.Arg291=)
13g.113149054G>TCA388792539F10c.1004G>T (p.Arg335Leu)
c.994G>T (p.Ala332Ser)
c.1000G>T (p.Ala334Ser)
c.872G>T (p.Arg291Leu)
 gnomAD v4
13g.113149055delCA2623809558F10c.1005del (p.Met336Ter)
c.995del (p.Ala332AspfsTer12)
c.1001del (p.Ala334AspfsTer12)
c.873del (p.Met292Ter)
 gnomAD v4
13g.113149055C>ACA388792542F10c.1005C>A (p.Arg335=)
c.995C>A (p.Ala332Glu)
c.1001C>A (p.Ala334Glu)
c.873C>A (p.Arg291=)
13g.113149055C>GCA388792543F10c.1005C>G (p.Arg335=)
c.995C>G (p.Ala332Gly)
c.1001C>G (p.Ala334Gly)
c.873C>G (p.Arg291=)
13g.113149055C>TCA388792545F10c.1005C>T (p.Arg335=)
c.995C>T (p.Ala332Val)
c.1001C>T (p.Ala334Val)
c.873C>T (p.Arg291=)
13g.113149056A=CA2120140061F10c.1006A= (p.Met336=)
c.996A= (p.Ala332=)
c.1002A= (p.Ala334=)
c.874A= (p.Met292=)
13g.113149056A>CCA388792548F10c.1006A>C (p.Met336Leu)
c.996A>C (p.Ala332=)
c.1002A>C (p.Ala334=)
c.874A>C (p.Met292Leu)
13g.113149056A>GCA256478663F10c.1006A>G (p.Met336Val)
c.996A>G (p.Ala332=)
c.1002A>G (p.Ala334=)
c.874A>G (p.Met292Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.113149056A>TCA388792551F10c.1006A>T (p.Met336Leu)
c.996A>T (p.Ala332=)
c.1002A>T (p.Ala334=)
c.874A>T (p.Met292Leu)
13g.113149057T>ACA388792554F10c.1007T>A (p.Met336Lys)
c.997T>A (p.Ter333Arg)
c.1003T>A (p.Ter335Arg)
c.875T>A (p.Met292Lys)
13g.113149057T>CCA388792556F10c.1007T>C (p.Met336Thr)
c.997T>C (p.Ter333Arg)
c.1003T>C (p.Ter335Arg)
c.875T>C (p.Met292Thr)
13g.113149057T>GCA388792558F10c.1007T>G (p.Met336Arg)
c.997T>G (p.Ter333Gly)
c.1003T>G (p.Ter335Gly)
c.875T>G (p.Met292Arg)
13g.113149058G>ACA388792566F10c.1008G>A (p.Met336Ile)
c.998G>A (p.Ter333=)
c.1004G>A (p.Ter335=)
c.876G>A (p.Met292Ile)
 COSMIC
13g.113149058G>CCA388792563F10c.1008G>C (p.Met336Ile)
c.998G>C (p.Ter333Ser)
c.1004G>C (p.Ter335Ser)
c.876G>C (p.Met292Ile)
13g.113149058G>TCA388792560F10c.1008G>T (p.Met336Ile)
c.998G>T (p.Ter333Leu)
c.1004G>T (p.Ter335Leu)
c.876G>T (p.Met292Ile)
13g.113149059A>CCA388792569F10c.1009A>C (p.Asn337His)
c.999A>C (p.Ter333Cys)
c.1005A>C (p.Ter335Cys)
c.877A>C (p.Asn293His)
13g.113149059A>GCA388792572F10c.1009A>G (p.Asn337Asp)
c.999A>G (p.Ter333Trp)
c.1005A>G (p.Ter335Trp)
c.877A>G (p.Asn293Asp)
13g.113149059A>TCA388792574F10c.1009A>T (p.Asn337Tyr)
c.999A>T (p.Ter333Cys)
c.1005A>T (p.Ter335Cys)
c.877A>T (p.Asn293Tyr)
13g.113149060A>CCA388792577F10c.1010A>C (p.Asn337Thr)
c.*1A>C (n.*1A>C)
c.878A>C (p.Asn293Thr)
13g.113149060A>GCA388792578F10c.1010A>G (p.Asn337Ser)
c.*1A>G (n.*1A>G)
c.878A>G (p.Asn293Ser)
13g.113149060A>TCA388792581F10c.1010A>T (p.Asn337Ile)
c.*1A>T (n.*1A>T)
c.878A>T (p.Asn293Ile)
13g.113149061C>ACA256478665F10c.1011C>A (p.Asn337Lys)
c.*2C>A (n.*2C>A)
c.879C>A (p.Asn293Lys)
 dbSNP gnomAD v3 gnomAD v4
13g.113149061C=CA2120140069F10c.1011C= (p.Asn337=)
c.*2C= (n.*2C=)
c.879C= (p.Asn293=)
13g.113149061C>GCA388792585F10c.1011C>G (p.Asn337Lys)
c.*2C>G (n.*2C>G)
c.879C>G (p.Asn293Lys)
13g.113149061C>TCA7060662F10c.1011C>T (p.Asn337=)
c.*2C>T (n.*2C>T)
c.879C>T (p.Asn293=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149062G>ACA256478666F10c.1012G>A (p.Val338Met)
c.*3G>A (n.*3G>A)
c.880G>A (p.Val294Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149062G>CCA388792588F10c.1012G>C (p.Val338Leu)
c.*3G>C (n.*3G>C)
c.880G>C (p.Val294Leu)
13g.113149062G=CA2120140078F10c.1012G= (p.Val338=)
c.*3G= (n.*3G=)
c.880G= (p.Val294=)
13g.113149062G>TCA388792591F10c.1012G>T (p.Val338Leu)
c.*3G>T (n.*3G>T)
c.880G>T (p.Val294Leu)
 gnomAD v4
13g.113149063T>ACA388792599F10c.1013T>A (p.Val338Glu)
c.*4T>A (n.*4T>A)
c.881T>A (p.Val294Glu)
13g.113149063T>CCA388792597F10c.1013T>C (p.Val338Ala)
c.*4T>C (n.*4T>C)
c.881T>C (p.Val294Ala)
13g.113149063T>GCA388792595F10c.1013T>G (p.Val338Gly)
c.*4T>G (n.*4T>G)
c.881T>G (p.Val294Gly)
13g.113149064G>ACA485424051F10c.1014G>A (p.Val338=)
c.*5G>A (n.*5G>A)
c.882G>A (p.Val294=)
13g.113149064G>CCA7060663F10c.1014G>C (p.Val338=)
c.*5G>C (n.*5G>C)
c.882G>C (p.Val294=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149064G=CA2120140081F10c.1014G= (p.Val338=)
c.*5G= (n.*5G=)
c.882G= (p.Val294=)
13g.113149064G>TCA485424052F10c.1014G>T (p.Val338=)
c.*5G>T (n.*5G>T)
c.882G>T (p.Val294=)
13g.113149065G>ACA388792608F10c.1015G>A (p.Ala339Thr)
c.*6G>A (n.*6G>A)
c.883G>A (p.Ala295Thr)
13g.113149065G>CCA388792603F10c.1015G>C (p.Ala339Pro)
c.*6G>C (n.*6G>C)
c.883G>C (p.Ala295Pro)
13g.113149065G>TCA388792605F10c.1015G>T (p.Ala339Ser)
c.*6G>T (n.*6G>T)
c.883G>T (p.Ala295Ser)
13g.113149066C>ACA388792612F10c.1016C>A (p.Ala339Glu)
c.*7C>A (n.*7C>A)
c.884C>A (p.Ala295Glu)
13g.113149066C=CA2120140083F10c.1016C= (p.Ala339=)
c.*7C= (n.*7C=)
c.884C= (p.Ala295=)
13g.113149066C>GCA388792614F10c.1016C>G (p.Ala339Gly)
c.*7C>G (n.*7C>G)
c.884C>G (p.Ala295Gly)
13g.113149066C>TCA7060664F10c.1016C>T (p.Ala339Val)
c.*7C>T (n.*7C>T)
c.884C>T (p.Ala295Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149067G>ACA7060665F10c.1017G>A (p.Ala339=)
c.*8G>A (n.*8G>A)
c.885G>A (p.Ala295=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149067G>CCA485424053F10c.1017G>C (p.Ala339=)
c.*8G>C (n.*8G>C)
c.885G>C (p.Ala295=)
13g.113149067G=CA2120140086F10c.1017G= (p.Ala339=)
c.*8G= (n.*8G=)
c.885G= (p.Ala295=)
13g.113149067G>TCA485424054F10c.1017G>T (p.Ala339=)
c.*8G>T (n.*8G>T)
c.885G>T (p.Ala295=)
 dbSNP gnomAD v2 gnomAD v4
13g.113149075_113149078dupCA2623809560F10c.1025_1028dup (p.Glu345ProfsTer4)
c.*16_*19dup (n.*16_*19dup)
c.893_896dup (p.Glu301ProfsTer4)
 gnomAD v4
13g.113149068C>ACA388792621F10c.1018C>A (p.Pro340Thr)
c.*9C>A (n.*9C>A)
c.886C>A (p.Pro296Thr)
13g.113149068C=CA2120140089F10c.1018C= (p.Pro340=)
c.*9C= (n.*9C=)
c.886C= (p.Pro296=)
13g.113149068C>GCA256478670F10c.1018C>G (p.Pro340Ala)
c.*9C>G (n.*9C>G)
c.886C>G (p.Pro296Ala)
 dbSNP gnomAD v4
13g.113149068C>TCA7060666F10c.1018C>T (p.Pro340Ser)
c.*9C>T (n.*9C>T)
c.886C>T (p.Pro296Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149069C>ACA388792626F10c.1019C>A (p.Pro340His)
c.*10C>A (n.*10C>A)
c.887C>A (p.Pro296His)
13g.113149069C>GCA388792629F10c.1019C>G (p.Pro340Arg)
c.*10C>G (n.*10C>G)
c.887C>G (p.Pro296Arg)
13g.113149069C>TCA388792631F10c.1019C>T (p.Pro340Leu)
c.*10C>T (n.*10C>T)
c.887C>T (p.Pro296Leu)
 gnomAD v4
13g.113149070T>ACA485424055F10c.1020T>A (p.Pro340=)
c.*11T>A (n.*11T>A)
c.888T>A (p.Pro296=)
13g.113149070T>CCA485424056F10c.1020T>C (p.Pro340=)
c.*11T>C (n.*11T>C)
c.888T>C (p.Pro296=)
 dbSNP
13g.113149070T>GCA485424057F10c.1020T>G (p.Pro340=)
c.*11T>G (n.*11T>G)
c.888T>G (p.Pro296=)
13g.113149071G>ACA256478672F10c.1021G>A (p.Ala341Thr)
c.*12G>A (n.*12G>A)
c.889G>A (p.Ala297Thr)
 dbSNP
13g.113149071G>CCA388792633F10c.1021G>C (p.Ala341Pro)
c.*12G>C (n.*12G>C)
c.889G>C (p.Ala297Pro)
 dbSNP gnomAD v2 gnomAD v4
13g.113149071G=CA2120140092F10c.1021G= (p.Ala341=)
c.*12G= (n.*12G=)
c.889G= (p.Ala297=)
13g.113149071G>TCA388792634F10c.1021G>T (p.Ala341Ser)
c.*12G>T (n.*12G>T)
c.889G>T (p.Ala297Ser)
13g.113149072C>ACA388792637F10c.1022C>A (p.Ala341Asp)
c.*13C>A (n.*13C>A)
c.890C>A (p.Ala297Asp)
13g.113149072C>GCA388792639F10c.1022C>G (p.Ala341Gly)
c.*13C>G (n.*13C>G)
c.890C>G (p.Ala297Gly)
13g.113149072C>TCA388792641F10c.1022C>T (p.Ala341Val)
c.*13C>T (n.*13C>T)
c.890C>T (p.Ala297Val)
13g.113149073C>ACA485424058F10c.1023C>A (p.Ala341=)
c.*14C>A (n.*14C>A)
c.891C>A (p.Ala297=)
13g.113149073C>GCA485424059F10c.1023C>G (p.Ala341=)
c.*14C>G (n.*14C>G)
c.891C>G (p.Ala297=)
13g.113149073C>TCA485424060F10c.1023C>T (p.Ala341=)
c.*14C>T (n.*14C>T)
c.891C>T (p.Ala297=)
13g.113149074T>ACA388792642F10c.1024T>A (p.Cys342Ser)
c.*15T>A (n.*15T>A)
c.892T>A (p.Cys298Ser)
13g.113149074T>CCA388792644F10c.1024T>C (p.Cys342Arg)
c.*15T>C (n.*15T>C)
c.892T>C (p.Cys298Arg)
 dbSNP gnomAD v2 gnomAD v4
13g.113149074T>GCA388792647F10c.1024T>G (p.Cys342Gly)
c.*15T>G (n.*15T>G)
c.892T>G (p.Cys298Gly)
13g.113149074T=CA2120140095F10c.1024T= (p.Cys342=)
c.*15T= (n.*15T=)
c.892T= (p.Cys298=)
13g.113149075G>ACA388792650F10c.1025G>A (p.Cys342Tyr)
c.*16G>A (n.*16G>A)
c.893G>A (p.Cys298Tyr)
13g.113149075G>CCA388792653F10c.1025G>C (p.Cys342Ser)
c.*16G>C (n.*16G>C)
c.893G>C (p.Cys298Ser)
13g.113149075G>TCA388792655F10c.1025G>T (p.Cys342Phe)
c.*16G>T (n.*16G>T)
c.893G>T (p.Cys298Phe)
13g.113149076C>ACA388792657F10c.1026C>A (p.Cys342Ter)
c.*17C>A (n.*17C>A)
c.894C>A (p.Cys298Ter)
13g.113149076C>GCA388792660F10c.1026C>G (p.Cys342Trp)
c.*17C>G (n.*17C>G)
c.894C>G (p.Cys298Trp)
13g.113149076C>TCA485424061F10c.1026C>T (p.Cys342=)
c.*17C>T (n.*17C>T)
c.894C>T (p.Cys298=)
13g.113149077C>ACA388792665F10c.1027C>A (p.Leu343Ile)
c.*18C>A (n.*18C>A)
c.895C>A (p.Leu299Ile)
 gnomAD v4
13g.113149077C>GCA388792668F10c.1027C>G (p.Leu343Val)
c.*18C>G (n.*18C>G)
c.895C>G (p.Leu299Val)
13g.113149077C>TCA388792663F10c.1027C>T (p.Leu343Phe)
c.*18C>T (n.*18C>T)
c.895C>T (p.Leu299Phe)
13g.113149078T>ACA388792669F10c.1028T>A (p.Leu343His)
c.*19T>A (n.*19T>A)
c.896T>A (p.Leu299His)
13g.113149078T>CCA388792671F10c.1028T>C (p.Leu343Pro)
c.*19T>C (n.*19T>C)
c.896T>C (p.Leu299Pro)
 COSMIC
13g.113149078T>GCA388792673F10c.1028T>G (p.Leu343Arg)
c.*19T>G (n.*19T>G)
c.896T>G (p.Leu299Arg)
13g.113149079C>ACA485424062F10c.1029C>A (p.Leu343=)
c.*20C>A (n.*20C>A)
c.897C>A (p.Leu299=)
13g.113149079C>GCA485424063F10c.1029C>G (p.Leu343=)
c.*20C>G (n.*20C>G)
c.897C>G (p.Leu299=)
13g.113149079C>TCA485424064F10c.1029C>T (p.Leu343=)
c.*20C>T (n.*20C>T)
c.897C>T (p.Leu299=)
13g.113149080C>ACA388792675F10c.1030C>A (p.Pro344Thr)
c.*21C>A (n.*21C>A)
c.898C>A (p.Pro300Thr)
13g.113149080C>GCA388792677F10c.1030C>G (p.Pro344Ala)
c.*21C>G (n.*21C>G)
c.898C>G (p.Pro300Ala)
13g.113149080C>TCA388792679F10c.1030C>T (p.Pro344Ser)
c.*21C>T (n.*21C>T)
c.898C>T (p.Pro300Ser)
13g.113149081C>ACA388792681F10c.1031C>A (p.Pro344His)
c.*22C>A (n.*22C>A)
c.899C>A (p.Pro300His)
 COSMIC
13g.113149081C>GCA388792684F10c.1031C>G (p.Pro344Arg)
c.*22C>G (n.*22C>G)
c.899C>G (p.Pro300Arg)
 gnomAD v4
13g.113149081C>TCA388792686F10c.1031C>T (p.Pro344Leu)
c.*22C>T (n.*22C>T)
c.899C>T (p.Pro300Leu)
13g.113149082C>ACA485424065F10c.1032C>A (p.Pro344=)
c.*23C>A (n.*23C>A)
c.900C>A (p.Pro300=)
 COSMIC
13g.113149082C=CA2120140126F10c.1032C= (p.Pro344=)
c.*23C= (n.*23C=)
c.900C= (p.Pro300=)
13g.113149082C>GCA485424066F10c.1032C>G (p.Pro344=)
c.*23C>G (n.*23C>G)
c.900C>G (p.Pro300=)
 gnomAD v4
13g.113149082C>TCA7060667F10c.1032C>T (p.Pro344=)
c.*23C>T (n.*23C>T)
c.900C>T (p.Pro300=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149083G>ACA7060668F10c.1033G>A (p.Glu345Lys)
c.*24G>A (n.*24G>A)
c.901G>A (p.Glu301Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149083G>CCA388792692F10c.1033G>C (p.Glu345Gln)
c.*24G>C (n.*24G>C)
c.901G>C (p.Glu301Gln)
 gnomAD v4
13g.113149083G=CA2120140133F10c.1033G= (p.Glu345=)
c.*24G= (n.*24G=)
c.901G= (p.Glu301=)
13g.113149083G>TCA388792694F10c.1033G>T (p.Glu345Ter)
c.*24G>T (n.*24G>T)
c.901G>T (p.Glu301Ter)
13g.113149084A>CCA388792702F10c.1034A>C (p.Glu345Ala)
c.*25A>C (n.*25A>C)
c.902A>C (p.Glu301Ala)
13g.113149084A>GCA388792700F10c.1034A>G (p.Glu345Gly)
c.*25A>G (n.*25A>G)
c.902A>G (p.Glu301Gly)
13g.113149084A>TCA388792697F10c.1034A>T (p.Glu345Val)
c.*25A>T (n.*25A>T)
c.902A>T (p.Glu301Val)
13g.113149085G>ACA7060669F10c.1035G>A (p.Glu345=)
c.*26G>A (n.*26G>A)
c.903G>A (p.Glu301=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149085G>CCA388792706F10c.1035G>C (p.Glu345Asp)
c.*26G>C (n.*26G>C)
c.903G>C (p.Glu301Asp)
13g.113149085G=CA2120140137F10c.1035G= (p.Glu345=)
c.*26G= (n.*26G=)
c.903G= (p.Glu301=)
13g.113149085G>TCA388792707F10c.1035G>T (p.Glu345Asp)
c.*26G>T (n.*26G>T)
c.903G>T (p.Glu301Asp)
13g.113149086C>ACA388792709F10c.1036C>A (p.Arg346Ser)
c.*27C>A (n.*27C>A)
c.904C>A (p.Arg302Ser)
 gnomAD v4
13g.113149086C=CA2120140139F10c.1036C= (p.Arg346=)
c.*27C= (n.*27C=)
c.904C= (p.Arg302=)
13g.113149086C>GCA388792710F10c.1036C>G (p.Arg346Gly)
c.*27C>G (n.*27C>G)
c.904C>G (p.Arg302Gly)
13g.113149086C>TCA7060670F10c.1036C>T (p.Arg346Cys)
c.*27C>T (n.*27C>T)
c.904C>T (p.Arg302Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149087G>ACA7060671F10c.1037G>A (p.Arg346His)
c.*28G>A (n.*28G>A)
c.905G>A (p.Arg302His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149087G>CCA388792718F10c.1037G>C (p.Arg346Pro)
c.*28G>C (n.*28G>C)
c.905G>C (p.Arg302Pro)
13g.113149087G=CA2120140142F10c.1037G= (p.Arg346=)
c.*28G= (n.*28G=)
c.905G= (p.Arg302=)
13g.113149087G>TCA388792720F10c.1037G>T (p.Arg346Leu)
c.*28G>T (n.*28G>T)
c.905G>T (p.Arg302Leu)
 dbSNP gnomAD v2 gnomAD v4
13g.113149088T>ACA485424067F10c.1038T>A (p.Arg346=)
c.*29T>A (n.*29T>A)
c.906T>A (p.Arg302=)
13g.113149088T>CCA485424068F10c.1038T>C (p.Arg346=)
c.*29T>C (n.*29T>C)
c.906T>C (p.Arg302=)
13g.113149088T>GCA7060672F10c.1038T>G (p.Arg346=)
c.*29T>G (n.*29T>G)
c.906T>G (p.Arg302=)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149088T=CA2120140146F10c.1038T= (p.Arg346=)
c.*29T= (n.*29T=)
c.906T= (p.Arg302=)
13g.113149089G>ACA388792723F10c.1039G>A (p.Asp347Asn)
c.*30G>A (n.*30G>A)
c.907G>A (p.Asp303Asn)
 gnomAD v4
13g.113149089G>CCA388792725F10c.1039G>C (p.Asp347His)
c.*30G>C (n.*30G>C)
c.907G>C (p.Asp303His)
13g.113149089G>TCA388792728F10c.1039G>T (p.Asp347Tyr)
c.*30G>T (n.*30G>T)
c.907G>T (p.Asp303Tyr)
13g.113149090A>CCA388792733F10c.1040A>C (p.Asp347Ala)
c.*31A>C (n.*31A>C)
c.908A>C (p.Asp303Ala)
13g.113149090A>GCA388792734F10c.1040A>G (p.Asp347Gly)
c.*31A>G (n.*31A>G)
c.908A>G (p.Asp303Gly)
 gnomAD v4
13g.113149090A>TCA388792731F10c.1040A>T (p.Asp347Val)
c.*31A>T (n.*31A>T)
c.908A>T (p.Asp303Val)
13g.113149091C>ACA388792735F10c.1041C>A (p.Asp347Glu)
c.*32C>A (n.*32C>A)
c.909C>A (p.Asp303Glu)
13g.113149091C=CA2120140149F10c.1041C= (p.Asp347=)
c.*32C= (n.*32C=)
c.909C= (p.Asp303=)
13g.113149091C>GCA388792737F10c.1041C>G (p.Asp347Glu)
c.*32C>G (n.*32C>G)
c.909C>G (p.Asp303Glu)
13g.113149091C>TCA485424069F10c.1041C>T (p.Asp347=)
c.*32C>T (n.*32C>T)
c.909C>T (p.Asp303=)
 dbSNP gnomAD v3 gnomAD v4
13g.113149092T>ACA388792738F10c.1042T>A (p.Trp348Arg)
c.*33T>A (n.*33T>A)
c.910T>A (p.Trp304Arg)
13g.113149092T>CCA7060673F10c.1042T>C (p.Trp348Arg)
c.*33T>C (n.*33T>C)
c.910T>C (p.Trp304Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149092T>GCA388792742F10c.1042T>G (p.Trp348Gly)
c.*33T>G (n.*33T>G)
c.910T>G (p.Trp304Gly)
13g.113149092T=CA2120140151F10c.1042T= (p.Trp348=)
c.*33T= (n.*33T=)
c.910T= (p.Trp304=)
13g.113149093G>ACA388792748F10c.1043G>A (p.Trp348Ter)
c.*34G>A (n.*34G>A)
c.911G>A (p.Trp304Ter)
 ClinVar dbSNP
13g.113149093G>CCA388792746F10c.1043G>C (p.Trp348Ser)
c.*34G>C (n.*34G>C)
c.911G>C (p.Trp304Ser)
13g.113149093G=CA2120140155F10c.1043G= (p.Trp348=)
c.*34G= (n.*34G=)
c.911G= (p.Trp304=)
13g.113149093G>TCA388792745F10c.1043G>T (p.Trp348Leu)
c.*34G>T (n.*34G>T)
c.911G>T (p.Trp304Leu)
 gnomAD v4
13g.113149094G>ACA388792750F10c.1044G>A (p.Trp348Ter)
c.*35G>A (n.*35G>A)
c.912G>A (p.Trp304Ter)
 dbSNP gnomAD v3 gnomAD v4
13g.113149094G>CCA388792752F10c.1044G>C (p.Trp348Cys)
c.*35G>C (n.*35G>C)
c.912G>C (p.Trp304Cys)
13g.113149094G=CA2120140160F10c.1044G= (p.Trp348=)
c.*35G= (n.*35G=)
c.912G= (p.Trp304=)
13g.113149094G>TCA388792755F10c.1044G>T (p.Trp348Cys)
c.*35G>T (n.*35G>T)
c.912G>T (p.Trp304Cys)
13g.113149095G>ACA7060674F10c.1045G>A (p.Ala349Thr)
c.*36G>A (n.*36G>A)
c.913G>A (p.Ala305Thr)
 dbSNP ExAC gnomAD v2
13g.113149095G>CCA388792757F10c.1045G>C (p.Ala349Pro)
c.*36G>C (n.*36G>C)
c.913G>C (p.Ala305Pro)
13g.113149095G=CA2120140163F10c.1045G= (p.Ala349=)
c.*36G= (n.*36G=)
c.913G= (p.Ala305=)
13g.113149095G>TCA388792758F10c.1045G>T (p.Ala349Ser)
c.*36G>T (n.*36G>T)
c.913G>T (p.Ala305Ser)
13g.113149096C>ACA388792766F10c.1046C>A (p.Ala349Asp)
c.*37C>A (n.*37C>A)
c.914C>A (p.Ala305Asp)
13g.113149096C>GCA388792761F10c.1046C>G (p.Ala349Gly)
c.*37C>G (n.*37C>G)
c.914C>G (p.Ala305Gly)
13g.113149096C>TCA388792764F10c.1046C>T (p.Ala349Val)
c.*37C>T (n.*37C>T)
c.914C>T (p.Ala305Val)
13g.113149097C>ACA485424070F10c.1047C>A (p.Ala349=)
c.*38C>A (n.*38C>A)
c.915C>A (p.Ala305=)
 gnomAD v4
13g.113149097C=CA2120140166F10c.1047C= (p.Ala349=)
c.*38C= (n.*38C=)
c.915C= (p.Ala305=)
13g.113149097C>GCA485424071F10c.1047C>G (p.Ala349=)
c.*38C>G (n.*38C>G)
c.915C>G (p.Ala305=)
 gnomAD v4
13g.113149097C>TCA256478678F10c.1047C>T (p.Ala349=)
c.*38C>T (n.*38C>T)
c.915C>T (p.Ala305=)
 dbSNP gnomAD v3 gnomAD v4
13g.113149098delCA2623809576F10c.1048del (p.Glu350SerfsTer4)
c.*39del (n.*39del)
c.916del (p.Glu306SerfsTer4)
 gnomAD v4
13g.113149098G>ACA256478679F10c.1048G>A (p.Glu350Lys)
c.*39G>A (n.*39G>A)
c.916G>A (p.Glu306Lys)
 dbSNP gnomAD v3 gnomAD v4
13g.113149098G>CCA388792770F10c.1048G>C (p.Glu350Gln)
c.*39G>C (n.*39G>C)
c.916G>C (p.Glu306Gln)
13g.113149098G=CA2120140169F10c.1048G= (p.Glu350=)
c.*39G= (n.*39G=)
c.916G= (p.Glu306=)
13g.113149098G>TCA388792773F10c.1048G>T (p.Glu350Ter)
c.*39G>T (n.*39G>T)
c.916G>T (p.Glu306Ter)
13g.113149099A>CCA388792775F10c.1049A>C (p.Glu350Ala)
c.*40A>C (n.*40A>C)
c.917A>C (p.Glu306Ala)
13g.113149099A>GCA388792778F10c.1049A>G (p.Glu350Gly)
c.*40A>G (n.*40A>G)
c.917A>G (p.Glu306Gly)
13g.113149099A>TCA388792780F10c.1049A>T (p.Glu350Val)
c.*40A>T (n.*40A>T)
c.917A>T (p.Glu306Val)
13g.113149100G>ACA7060675F10c.1050G>A (p.Glu350=)
c.*41G>A (n.*41G>A)
c.918G>A (p.Glu306=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149100G>CCA388792783F10c.1050G>C (p.Glu350Asp)
c.*41G>C (n.*41G>C)
c.918G>C (p.Glu306Asp)
13g.113149100G=CA2120140171F10c.1050G= (p.Glu350=)
c.*41G= (n.*41G=)
c.918G= (p.Glu306=)
13g.113149100G>TCA388792785F10c.1050G>T (p.Glu350Asp)
c.*41G>T (n.*41G>T)
c.918G>T (p.Glu306Asp)
13g.113149101T>ACA388792788F10c.1051T>A (p.Ser351Thr)
c.*42T>A (n.*42T>A)
c.919T>A (p.Ser307Thr)
13g.113149101T>CCA388792789F10c.1051T>C (p.Ser351Pro)
c.*42T>C (n.*42T>C)
c.919T>C (p.Ser307Pro)
 gnomAD v4
13g.113149101T>GCA388792792F10c.1051T>G (p.Ser351Ala)
c.*42T>G (n.*42T>G)
c.919T>G (p.Ser307Ala)
13g.113149102C>ACA388792794F10c.1052C>A (p.Ser351Tyr)
c.*43C>A (n.*43C>A)
c.920C>A (p.Ser307Tyr)
13g.113149102C>GCA388792799F10c.1052C>G (p.Ser351Cys)
c.*43C>G (n.*43C>G)
c.920C>G (p.Ser307Cys)
13g.113149102C>TCA388792796F10c.1052C>T (p.Ser351Phe)
c.*43C>T (n.*43C>T)
c.920C>T (p.Ser307Phe)
13g.113149103C>ACA485424072F10c.1053C>A (p.Ser351=)
c.*44C>A (n.*44C>A)
c.921C>A (p.Ser307=)
 COSMIC
13g.113149103C>GCA485424073F10c.1053C>G (p.Ser351=)
c.*44C>G (n.*44C>G)
c.921C>G (p.Ser307=)
13g.113149103C>TCA485424074F10c.1053C>T (p.Ser351=)
c.*44C>T (n.*44C>T)
c.921C>T (p.Ser307=)
 gnomAD v4
13g.113149104A>CCA388792801F10c.1054A>C (p.Thr352Pro)
c.*45A>C (n.*45A>C)
c.922A>C (p.Thr308Pro)
13g.113149104A>GCA388792802F10c.1054A>G (p.Thr352Ala)
c.*45A>G (n.*45A>G)
c.922A>G (p.Thr308Ala)
13g.113149104A>TCA388792805F10c.1054A>T (p.Thr352Ser)
c.*45A>T (n.*45A>T)
c.922A>T (p.Thr308Ser)
13g.113149105C>ACA388792808F10c.1055C>A (p.Thr352Lys)
c.*46C>A (n.*46C>A)
c.923C>A (p.Thr308Lys)
13g.113149105C=CA2120140173F10c.1055C= (p.Thr352=)
c.*46C= (n.*46C=)
c.923C= (p.Thr308=)
13g.113149105C>GCA388792809F10c.1055C>G (p.Thr352Arg)
c.*46C>G (n.*46C>G)
c.923C>G (p.Thr308Arg)
13g.113149105C>TCA388792810F10c.1055C>T (p.Thr352Met)
c.*46C>T (n.*46C>T)
c.923C>T (p.Thr308Met)
 dbSNP gnomAD v2 gnomAD v4
13g.113149106G>ACA7060676F10c.1056G>A (p.Thr352=)
c.*47G>A (n.*47G>A)
c.924G>A (p.Thr308=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149106G>CCA485424075F10c.1056G>C (p.Thr352=)
c.*47G>C (n.*47G>C)
c.924G>C (p.Thr308=)
13g.113149106G=CA2120140175F10c.1056G= (p.Thr352=)
c.*47G= (n.*47G=)
c.924G= (p.Thr308=)
13g.113149106G>TCA485424076F10c.1056G>T (p.Thr352=)
c.*47G>T (n.*47G>T)
c.924G>T (p.Thr308=)
 dbSNP gnomAD v3 gnomAD v4
13g.113149107C>ACA388792813F10c.1057C>A (p.Leu353Met)
c.*48C>A (n.*48C>A)
c.925C>A (p.Leu309Met)
13g.113149107C>GCA388792816F10c.1057C>G (p.Leu353Val)
c.*48C>G (n.*48C>G)
c.925C>G (p.Leu309Val)
13g.113149107C>TCA485424077F10c.1057C>T (p.Leu353=)
c.*48C>T (n.*48C>T)
c.925C>T (p.Leu309=)
13g.113149107_113149108delinsCTCA2120140177F10c.1057_1058delinsCT (p.Leu353=)
c.*48_*49delinsCT (n.*48_*49delinsCT)
c.925_926delinsCT (p.Leu309=)
13g.113149108delCA7060677F10c.1058del (p.Leu353ArgfsTer2)
c.*49del (n.*49del)
c.926del (p.Leu309ArgfsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149108T>ACA388792818F10c.1058T>A (p.Leu353Gln)
c.*49T>A (n.*49T>A)
c.926T>A (p.Leu309Gln)
13g.113149108T>CCA388792820F10c.1058T>C (p.Leu353Pro)
c.*49T>C (n.*49T>C)
c.926T>C (p.Leu309Pro)
 gnomAD v4
13g.113149108T>GCA388792823F10c.1058T>G (p.Leu353Arg)
c.*49T>G (n.*49T>G)
c.926T>G (p.Leu309Arg)
13g.113149109G>ACA485424078F10c.1059G>A (p.Leu353=)
c.*50G>A (n.*50G>A)
c.927G>A (p.Leu309=)
13g.113149109G>CCA256478684F10c.1059G>C (p.Leu353=)
c.*50G>C (n.*50G>C)
c.927G>C (p.Leu309=)
 dbSNP gnomAD v4
13g.113149109G=CA2120140179F10c.1059G= (p.Leu353=)
c.*50G= (n.*50G=)
c.927G= (p.Leu309=)
13g.113149109G>TCA485424079F10c.1059G>T (p.Leu353=)
c.*50G>T (n.*50G>T)
c.927G>T (p.Leu309=)
13g.113149110A>CCA388792830F10c.1060A>C (p.Met354Leu)
c.*51A>C (n.*51A>C)
c.928A>C (p.Met310Leu)
13g.113149110A>GCA388792827F10c.1060A>G (p.Met354Val)
c.*51A>G (n.*51A>G)
c.928A>G (p.Met310Val)
13g.113149110A>TCA388792829F10c.1060A>T (p.Met354Leu)
c.*51A>T (n.*51A>T)
c.928A>T (p.Met310Leu)
13g.113149111T>ACA388792833F10c.1061T>A (p.Met354Lys)
c.*52T>A (n.*52T>A)
c.929T>A (p.Met310Lys)
13g.113149111T>CCA388792836F10c.1061T>C (p.Met354Thr)
c.*52T>C (n.*52T>C)
c.929T>C (p.Met310Thr)
13g.113149111T>GCA388792838F10c.1061T>G (p.Met354Arg)
c.*52T>G (n.*52T>G)
c.929T>G (p.Met310Arg)
13g.113149112G>ACA388792841F10c.1062G>A (p.Met354Ile)
c.*53G>A (n.*53G>A)
c.930G>A (p.Met310Ile)
13g.113149112G>CCA388792843F10c.1062G>C (p.Met354Ile)
c.*53G>C (n.*53G>C)
c.930G>C (p.Met310Ile)
13g.113149112G>TCA388792845F10c.1062G>T (p.Met354Ile)
c.*53G>T (n.*53G>T)
c.930G>T (p.Met310Ile)
13g.113149113A=CA2120140182F10c.1063A= (p.Thr355=)
c.*54A= (n.*54A=)
c.931A= (p.Thr311=)
13g.113149113A>CCA388792848F10c.1063A>C (p.Thr355Pro)
c.*54A>C (n.*54A>C)
c.931A>C (p.Thr311Pro)
13g.113149113A>GCA7060678F10c.1063A>G (p.Thr355Ala)
c.*54A>G (n.*54A>G)
c.931A>G (p.Thr311Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149113A>TCA388792853F10c.1063A>T (p.Thr355Ser)
c.*54A>T (n.*54A>T)
c.931A>T (p.Thr311Ser)
13g.113149114C>ACA7060679F10c.1064C>A (p.Thr355Lys)
c.*55C>A (n.*55C>A)
c.932C>A (p.Thr311Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
13g.113149114C=CA2120140183F10c.1064C= (p.Thr355=)
c.*55C= (n.*55C=)
c.932C= (p.Thr311=)
13g.113149114C>GCA388792854F10c.1064C>G (p.Thr355Arg)
c.*55C>G (n.*55C>G)
c.932C>G (p.Thr311Arg)
13g.113149114C>TCA388792856F10c.1064C>T (p.Thr355Met)
c.*55C>T (n.*55C>T)
c.932C>T (p.Thr311Met)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
13g.113149115G>ACA485424081F10c.1065G>A (p.Thr355=)
c.*56G>A (n.*56G>A)
c.933G>A (p.Thr311=)
 dbSNP gnomAD v4
13g.113149115G>CCA485424082F10c.1065G>C (p.Thr355=)
c.*56G>C (n.*56G>C)
c.933G>C (p.Thr311=)
13g.113149115G=CA2120140185F10c.1065G= (p.Thr355=)
c.*56G= (n.*56G=)
c.933G= (p.Thr311=)
13g.113149115G>TCA485424080F10c.1065G>T (p.Thr355=)
c.*56G>T (n.*56G>T)
c.933G>T (p.Thr311=)
13g.113149116C>ACA388792864F10c.1066C>A (p.Gln356Lys)
c.*57C>A (n.*57C>A)
c.934C>A (p.Gln312Lys)
13g.113149116C>GCA388792859F10c.1066C>G (p.Gln356Glu)
c.*57C>G (n.*57C>G)
c.934C>G (p.Gln312Glu)
13g.113149116C>TCA388792862F10c.1066C>T (p.Gln356Ter)
c.*57C>T (n.*57C>T)
c.934C>T (p.Gln312Ter)
13g.113149117A=CA2120140188F10c.1067A= (p.Gln356=)
c.*58A= (n.*58A=)
c.935A= (p.Gln312=)
13g.113149117A>CCA388792866F10c.1067A>C (p.Gln356Pro)
c.*58A>C (n.*58A>C)
c.935A>C (p.Gln312Pro)
13g.113149117A>GCA388792871F10c.1067A>G (p.Gln356Arg)
c.*58A>G (n.*58A>G)
c.935A>G (p.Gln312Arg)
 dbSNP gnomAD v4
13g.113149117A>TCA388792869F10c.1067A>T (p.Gln356Leu)
c.*58A>T (n.*58A>T)
c.935A>T (p.Gln312Leu)
13g.113149118G>ACA485424083F10c.1068G>A (p.Gln356=)
c.*59G>A (n.*59G>A)
c.936G>A (p.Gln312=)
13g.113149118G>CCA388792872F10c.1068G>C (p.Gln356His)
c.*59G>C (n.*59G>C)
c.936G>C (p.Gln312His)
13g.113149118G>TCA388792874F10c.1068G>T (p.Gln356His)
c.*59G>T (n.*59G>T)
c.936G>T (p.Gln312His)
13g.113149119A=CA2120140191F10c.1069A= (p.Lys357=)
c.*60A= (n.*60A=)
c.937A= (p.Lys313=)
13g.113149119A>CCA388792876F10c.1069A>C (p.Lys357Gln)
c.*60A>C (n.*60A>C)
c.937A>C (p.Lys313Gln)
 gnomAD v4
13g.113149119A>GCA388792878F10c.1069A>G (p.Lys357Glu)
c.*60A>G (n.*60A>G)
c.937A>G (p.Lys313Glu)
 dbSNP gnomAD v2
13g.113149119A>TCA388792881F10c.1069A>T (p.Lys357Ter)
c.*60A>T (n.*60A>T)
c.937A>T (p.Lys313Ter)
13g.113149120A>CCA388792883F10c.1070A>C (p.Lys357Thr)
c.*61A>C (n.*61A>C)
c.938A>C (p.Lys313Thr)
13g.113149120A>GCA388792885F10c.1070A>G (p.Lys357Arg)
c.*61A>G (n.*61A>G)
c.938A>G (p.Lys313Arg)
13g.113149120A>TCA388792886F10c.1070A>T (p.Lys357Met)
c.*61A>T (n.*61A>T)
c.938A>T (p.Lys313Met)
 gnomAD v4
13g.113149121G>ACA485424084F10c.1071G>A (p.Lys357=)
c.*62G>A (n.*62G>A)
c.939G>A (p.Lys313=)
 COSMIC
13g.113149121G>CCA388792888F10c.1071G>C (p.Lys357Asn)
c.*62G>C (n.*62G>C)
c.939G>C (p.Lys313Asn)
13g.113149121G>TCA388792889F10c.1071G>T (p.Lys357Asn)
c.*62G>T (n.*62G>T)
c.939G>T (p.Lys313Asn)
13g.113149122A>CCA388792892F10c.1072A>C (p.Thr358Pro)
c.*63A>C (n.*63A>C)
c.940A>C (p.Thr314Pro)
13g.113149122A>GCA388792894F10c.1072A>G (p.Thr358Ala)
c.*63A>G (n.*63A>G)
c.940A>G (p.Thr314Ala)
13g.113149122A>TCA388792895F10c.1072A>T (p.Thr358Ser)
c.*63A>T (n.*63A>T)
c.940A>T (p.Thr314Ser)
13g.113149123C>ACA388792899F10c.1073C>A (p.Thr358Lys)
c.*64C>A (n.*64C>A)
c.941C>A (p.Thr314Lys)
13g.113149123C=CA2120140193F10c.1073C= (p.Thr358=)
c.*64C= (n.*64C=)
c.941C= (p.Thr314=)
13g.113149123C>GCA388792902F10c.1073C>G (p.Thr358Arg)
c.*64C>G (n.*64C>G)
c.941C>G (p.Thr314Arg)
13g.113149123C>TCA7060680F10c.1073C>T (p.Thr358Met)
c.*64C>T (n.*64C>T)
c.941C>T (p.Thr314Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149124G>ACA7060681F10c.1074G>A (p.Thr358=)
c.*65G>A (n.*65G>A)
c.942G>A (p.Thr314=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
13g.113149124G>CCA256478687F10c.1074G>C (p.Thr358=)
c.*65G>C (n.*65G>C)
c.942G>C (p.Thr314=)
 dbSNP gnomAD v3 gnomAD v4
13g.113149124G=CA2120140196F10c.1074G= (p.Thr358=)
c.*65G= (n.*65G=)
c.942G= (p.Thr314=)
13g.113149124G>TCA485424096F10c.1074G>T (p.Thr358=)
c.*65G>T (n.*65G>T)
c.942G>T (p.Thr314=)
 gnomAD v4
13g.113149127delCA2623809597F10c.1077del (p.Ile360LeufsTer2)
c.*68del (n.*68del)
c.945del (p.Ile316LeufsTer2)
 gnomAD v4
13g.113149125G>ACA388792906F10c.1075G>A (p.Gly359Arg)
c.*66G>A (n.*66G>A)
c.943G>A (p.Gly315Arg)
13g.113149125G>CCA388792908F10c.1075G>C (p.Gly359Arg)
c.*66G>C (n.*66G>C)
c.943G>C (p.Gly315Arg)
 dbSNP gnomAD v4
13g.113149125G=CA2120140199F10c.1075G= (p.Gly359=)
c.*66G= (n.*66G=)
c.943G= (p.Gly315=)
13g.113149125G>TCA388792911F10c.1075G>T (p.Gly359Trp)
c.*66G>T (n.*66G>T)
c.943G>T (p.Gly315Trp)
13g.113149126G>ACA388792914F10c.1076G>A (p.Gly359Glu)
c.*67G>A (n.*67G>A)
c.944G>A (p.Gly315Glu)
13g.113149126G>CCA388792915F10c.1076G>C (p.Gly359Ala)
c.*67G>C (n.*67G>C)
c.944G>C (p.Gly315Ala)
 gnomAD v4
13g.113149126G=CA2120140202F10c.1076G= (p.Gly359=)
c.*67G= (n.*67G=)
c.944G= (p.Gly315=)
13g.113149126G>TCA388792917F10c.1076G>T (p.Gly359Val)
c.*67G>T (n.*67G>T)
c.944G>T (p.Gly315Val)
 dbSNP
13g.113149127G>ACA485424097F10c.1077G>A (p.Gly359=)
c.*68G>A (n.*68G>A)
c.945G>A (p.Gly315=)
13g.113149127G>CCA485424100F10c.1077G>C (p.Gly359=)
c.*68G>C (n.*68G>C)
c.945G>C (p.Gly315=)
13g.113149127G>TCA485424101F10c.1077G>T (p.Gly359=)
c.*68G>T (n.*68G>T)
c.945G>T (p.Gly315=)
 gnomAD v4
13g.113149128A>CCA388792919F10c.1078A>C (p.Ile360Leu)
c.*69A>C (n.*69A>C)
c.946A>C (p.Ile316Leu)
13g.113149128A>GCA388792921F10c.1078A>G (p.Ile360Val)
c.*69A>G (n.*69A>G)
c.946A>G (p.Ile316Val)
13g.113149128A>TCA388792923F10c.1078A>T (p.Ile360Phe)
c.*69A>T (n.*69A>T)
c.946A>T (p.Ile316Phe)
13g.113149129T>ACA388792929F10c.1079T>A (p.Ile360Asn)
c.*70T>A (n.*70T>A)
c.947T>A (p.Ile316Asn)
13g.113149129T>CCA388792928F10c.1079T>C (p.Ile360Thr)
c.*70T>C (n.*70T>C)
c.947T>C (p.Ile316Thr)
 dbSNP gnomAD v2 gnomAD v4
13g.113149129T>GCA388792925F10c.1079T>G (p.Ile360Ser)
c.*70T>G (n.*70T>G)
c.947T>G (p.Ile316Ser)
13g.113149129T=CA2120140205F10c.1079T= (p.Ile360=)
c.*70T= (n.*70T=)
c.947T= (p.Ile316=)
13g.113149130T>ACA485424103F10c.1080T>A (p.Ile360=)
c.*71T>A (n.*71T>A)
c.948T>A (p.Ile316=)
13g.113149130T>CCA485424105F10c.1080T>C (p.Ile360=)
c.*71T>C (n.*71T>C)
c.948T>C (p.Ile316=)
13g.113149130T>GCA388792932F10c.1080T>G (p.Ile360Met)
c.*71T>G (n.*71T>G)
c.948T>G (p.Ile316Met)
13g.113149131G>ACA388792934F10c.1081G>A (p.Val361Met)
c.*72G>A (n.*72G>A)
c.949G>A (p.Val317Met)
13g.113149131G>CCA388792936F10c.1081G>C (p.Val361Leu)
c.*72G>C (n.*72G>C)
c.949G>C (p.Val317Leu)
13g.113149131G>TCA388792938F10c.1081G>T (p.Val361Leu)
c.*72G>T (n.*72G>T)
c.949G>T (p.Val317Leu)
13g.113149132T>ACA388792940F10c.1082T>A (p.Val361Glu)
c.*73T>A (n.*73T>A)
c.950T>A (p.Val317Glu)
13g.113149132T>CCA388792942F10c.1082T>C (p.Val361Ala)
c.*73T>C (n.*73T>C)
c.950T>C (p.Val317Ala)
13g.113149132T>GCA388792944F10c.1082T>G (p.Val361Gly)
c.*73T>G (n.*73T>G)
c.950T>G (p.Val317Gly)
13g.113149133G>ACA485424106F10c.1083G>A (p.Val361=)
c.*74G>A (n.*74G>A)
c.951G>A (p.Val317=)
 dbSNP gnomAD v3
13g.113149133G>CCA7060682F10c.1083G>C (p.Val361=)
c.*74G>C (n.*74G>C)
c.951G>C (p.Val317=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.113149133G=CA2120140207F10c.1083G= (p.Val361=)
c.*74G= (n.*74G=)
c.951G= (p.Val317=)
13g.113149133G>TCA485424108F10c.1083G>T (p.Val361=)
c.*74G>T (n.*74G>T)
c.951G>T (p.Val317=)
13g.113149134A>CCA388792948F10c.1084A>C (p.Ser362Arg)
c.*75A>C (n.*75A>C)
c.952A>C (p.Ser318Arg)
13g.113149134A>GCA388792950F10c.1084A>G (p.Ser362Gly)
c.*75A>G (n.*75A>G)
c.952A>G (p.Ser318Gly)
13g.113149134A>TCA388792953F10c.1084A>T (p.Ser362Cys)
c.*75A>T (n.*75A>T)
c.952A>T (p.Ser318Cys)
13g.113149135G>ACA388792956F10c.1085G>A (p.Ser362Asn)
c.*76G>A (n.*76G>A)
c.953G>A (p.Ser318Asn)
13g.113149135G>CCA388792958F10c.1085G>C (p.Ser362Thr)
c.*76G>C (n.*76G>C)
c.953G>C (p.Ser318Thr)
13g.113149135G>TCA388792960F10c.1085G>T (p.Ser362Ile)
c.*76G>T (n.*76G>T)
c.953G>T (p.Ser318Ile)

Number of alleles fetched