Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.38144202C=CA1777409137STARc.*71G= (n.*71G=)
n.2898G=
c.835G= (p.Glu279=)
8g.38144202C>TCA4715104STARc.*71G>A (n.*71G>A)
n.2898G>A
c.835G>A (p.Glu279Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144203C>ACA2686931445STARc.*70G>T (n.*70G>T)
n.2897G>T
c.834G>T (p.Leu278=)
gnomAD v4
8g.38144204A=CA1777409139STARc.*69T= (n.*69T=)
n.2896T=
c.833T= (p.Leu278=)
8g.38144204A>GCA1112876675STARc.*69T>C (n.*69T>C)
n.2896T>C
c.833T>C (p.Leu278Pro)
dbSNP gnomAD v3 gnomAD v4
8g.38144205G>ACA175090955STARc.*68C>T (n.*68C>T)
n.2895C>T
c.832C>T (p.Leu278=)
dbSNP
8g.38144205G=CA1777409140STARc.*68C= (n.*68C=)
n.2895C=
c.832C= (p.Leu278=)
8g.38144205G>TCA2686931448STARc.*68C>A (n.*68C>A)
n.2895C>A
c.832C>A (p.Leu278Met)
gnomAD v4
8g.38144207A=CA1777409142STARc.*66T= (n.*66T=)
n.2893T=
c.830T= (p.Leu277=)
8g.38144207A>GCA4715105STARc.*66T>C (n.*66T>C)
n.2893T>C
c.830T>C (p.Leu277Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144208G>CCA581109585STARc.*65C>G (n.*65C>G)
n.2892C>G
c.829C>G (p.Leu277Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144208G=CA1777409144STARc.*65C= (n.*65C=)
n.2892C=
c.829C= (p.Leu277=)
8g.38144208G>TCA2579143924STARc.*65C>A (n.*65C>A)
n.2892C>A
c.829C>A (p.Leu277Ile)
gnomAD v4
8g.38144209G>TCA2686931466STARc.*64C>A (n.*64C>A)
n.2891C>A
c.828C>A (p.Ser276=)
gnomAD v4
8g.38144210G>ACA581109586STARc.*63C>T (n.*63C>T)
n.2890C>T
c.827C>T (p.Ser276Phe)
dbSNP gnomAD v2 gnomAD v4
8g.38144210G>CCA2686931468STARc.*63C>G (n.*63C>G)
n.2890C>G
c.827C>G (p.Ser276Cys)
gnomAD v4
8g.38144210G=CA1777409146STARc.*63C= (n.*63C=)
n.2890C=
c.827C= (p.Ser276=)
8g.38144210G>TCA2579143925STARc.*63C>A (n.*63C>A)
n.2890C>A
c.827C>A (p.Ser276Tyr)
gnomAD v4
8g.38144213_38144216delinsTCTCCA1777409147STARc.*57_*60delinsGAGA (n.*57_*60delinsGAGA)
n.2884_2887delinsGAGA
c.821_824delinsGAGA (p.Gly274=)
8g.38144214C>GCA2686931470STARc.*59G>C (n.*59G>C)
n.2886G>C
c.823G>C (p.Glu275Gln)
gnomAD v4
8g.38144214C>TCA2579143926STARc.*59G>A (n.*59G>A)
n.2886G>A
c.823G>A (p.Glu275Lys)
8g.38144216_38144218delCA4715106STARc.*57_*59del (n.*57_*59del)
n.2884_2886del
c.821_823del (p.Gly274del)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144215T>ACA2686931471STARc.*58A>T (n.*58A>T)
n.2885A>T
c.822A>T (p.Gly274=)
gnomAD v4
8g.38144216C>ACA2686931472STARc.*57G>T (n.*57G>T)
n.2884G>T
c.821G>T (p.Gly274Val)
gnomAD v4
8g.38144216C=CA1777409149STARc.*57G= (n.*57G=)
n.2884G=
c.821G= (p.Gly274=)
8g.38144216C>GCA581109587STARc.*57G>C (n.*57G>C)
n.2884G>C
c.821G>C (p.Gly274Ala)
dbSNP gnomAD v2 gnomAD v4
8g.38144216C>TCA2686931474STARc.*57G>A (n.*57G>A)
n.2884G>A
c.821G>A (p.Gly274Glu)
gnomAD v4
8g.38144217C>ACA2686931475STARc.*56G>T (n.*56G>T)
n.2883G>T
c.820G>T (p.Gly274Ter)
gnomAD v4
8g.38144218T>ACA2686931476STARc.*55A>T (n.*55A>T)
n.2882A>T
c.819A>T (p.Ser273=)
gnomAD v4
8g.38144219G>ACA652007739STARc.*54C>T (n.*54C>T)
n.2881C>T
c.818C>T (p.Ser273Leu)
COSMIC
8g.38144219G>TCA2686931478STARc.*54C>A (n.*54C>A)
n.2881C>A
c.818C>A (p.Ser273Ter)
gnomAD v4
8g.38144221T>GCA2579143927STARc.*52A>C (n.*52A>C)
n.2879A>C
c.816A>C (p.Ser272=)
gnomAD v4
8g.38144222G>ACA2686931481STARc.*51C>T (n.*51C>T)
n.2878C>T
c.815C>T (p.Ser272Leu)
gnomAD v4
8g.38144222G>CCA581109588STARc.*51C>G (n.*51C>G)
n.2878C>G
c.815C>G (p.Ser272Ter)
dbSNP gnomAD v2 gnomAD v4
8g.38144222G=CA1777409151STARc.*51C= (n.*51C=)
n.2878C=
c.815C= (p.Ser272=)
8g.38144222G>TCA2686931483STARc.*51C>A (n.*51C>A)
n.2878C>A
c.815C>A (p.Ser272Ter)
gnomAD v4
8g.38144223A=CA1777409153STARc.*50T= (n.*50T=)
n.2877T=
c.814T= (p.Ser272=)
8g.38144223A>GCA581109589STARc.*50T>C (n.*50T>C)
n.2877T>C
c.814T>C (p.Ser272Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144223A>TCA2841816425STARc.*50T>A (n.*50T>A)
n.2877T>A
c.814T>A (p.Ser272Thr)
8g.38144224G>ACA1777409157STARc.*49C>T (n.*49C>T)
n.2876C>T
c.813C>T (p.Arg271=)
dbSNP gnomAD v4
8g.38144224G>CCA2579143928STARc.*49C>G (n.*49C>G)
n.2876C>G
c.813C>G (p.Arg271=)
gnomAD v4
8g.38144224G=CA1777409156STARc.*49C= (n.*49C=)
n.2876C=
c.813C= (p.Arg271=)
8g.38144224G>TCA2686931487STARc.*49C>A (n.*49C>A)
n.2876C>A
c.813C>A (p.Arg271=)
gnomAD v4
8g.38144225C>ACA2686931489STARc.*48G>T (n.*48G>T)
n.2875G>T
c.748G>T
c.812G>T (p.Arg271Leu)
gnomAD v4
8g.38144225C=CA1777409159STARc.*48G= (n.*48G=)
n.2875G=
c.748G=
c.812G= (p.Arg271=)
8g.38144225C>TCA581109590STARc.*48G>A (n.*48G>A)
n.2875G>A
c.748G>A
c.812G>A (p.Arg271His)
dbSNP gnomAD v2 gnomAD v4
8g.38144226G>ACA4715107STARc.*47C>T (n.*47C>T)
n.2874C>T
c.747C>T
c.811C>T (p.Arg271Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144226G>CCA2739983400STARc.*47C>G (n.*47C>G)
n.2874C>G
c.747C>G
c.811C>G (p.Arg271Gly)
8g.38144226G=CA1777409163STARc.*47C= (n.*47C=)
n.2874C=
c.747C=
c.811C= (p.Arg271=)
8g.38144226G>TCA2739983401STARc.*47C>A (n.*47C>A)
n.2874C>A
c.747C>A
c.811C>A (p.Arg271Ser)
8g.38144227T>ACA2739983402STARc.*46A>T (n.*46A>T)
n.2873A>T
c.746A>T
c.810A>T (p.Thr270=)
8g.38144227T>CCA2739983403STARc.*46A>G (n.*46A>G)
n.2873A>G
c.746A>G
c.810A>G (p.Thr270=)
8g.38144227T>GCA2739983404STARc.*46A>C (n.*46A>C)
n.2873A>C
c.746A>C
c.810A>C (p.Thr270=)
8g.38144228G>ACA1777409166STARc.*45C>T (n.*45C>T)
n.2872C>T
c.745C>T
c.809C>T (p.Thr270Ile)
dbSNP gnomAD v4
8g.38144228G>CCA2739983405STARc.*45C>G (n.*45C>G)
n.2872C>G
c.745C>G
c.809C>G (p.Thr270Arg)
8g.38144228G=CA1777409165STARc.*45C= (n.*45C=)
n.2872C=
c.745C=
c.809C= (p.Thr270=)
8g.38144228G>TCA2686931495STARc.*45C>A (n.*45C>A)
n.2872C>A
c.745C>A
c.809C>A (p.Thr270Lys)
gnomAD v4
8g.38144229T>CCA2686931496STARc.*44A>G (n.*44A>G)
n.2871A>G
c.744A>G
c.808A>G (p.Thr270Ala)
gnomAD v4
8g.38144230G>ACA2686931498STARc.*43C>T (n.*43C>T)
n.2870C>T
c.743C>T
c.807C>T (p.Tyr269=)
gnomAD v4
8g.38144230G>CCA2739983406STARc.*43C>G (n.*43C>G)
n.2870C>G
c.743C>G
c.807C>G (p.Tyr269Ter)
8g.38144230G>TCA2686931497STARc.*43C>A (n.*43C>A)
n.2870C>A
c.743C>A
c.807C>A (p.Tyr269Ter)
gnomAD v4
8g.38144231T>ACA2739983407STARc.*42A>T (n.*42A>T)
n.2869A>T
c.742A>T
c.806A>T (p.Tyr269Phe)
8g.38144231T>CCA2739983408STARc.*42A>G (n.*42A>G)
n.2869A>G
c.742A>G
c.806A>G (p.Tyr269Cys)
8g.38144231T>GCA2739983409STARc.*42A>C (n.*42A>C)
n.2869A>C
c.742A>C
c.806A>C (p.Tyr269Ser)
8g.38144232A>GCA2686931500STARc.*41T>C (n.*41T>C)
n.2868T>C
c.741T>C
c.805T>C (p.Tyr269His)
gnomAD v4
8g.38144233C>ACA2686931501STARc.*40G>T (n.*40G>T)
n.2867G>T
c.740G>T
c.804G>T (p.Trp268Cys)
gnomAD v4
8g.38144233C>GCA2739983410STARc.*40G>C (n.*40G>C)
n.2867G>C
c.740G>C
c.804G>C (p.Trp268Cys)
8g.38144233C>TCA2739983411STARc.*40G>A (n.*40G>A)
n.2867G>A
c.740G>A
c.804G>A (p.Trp268Ter)
8g.38144234C>ACA2686931505STARc.*39G>T (n.*39G>T)
n.2866G>T
c.739G>T
c.803G>T (p.Trp268Leu)
gnomAD v4
8g.38144234C>GCA2739983412STARc.*39G>C (n.*39G>C)
n.2866G>C
c.739G>C
c.803G>C (p.Trp268Ser)
8g.38144234C>TCA2686931503STARc.*39G>A (n.*39G>A)
n.2866G>A
c.739G>A
c.803G>A (p.Trp268Ter)
gnomAD v4
8g.38144235A>CCA2686931506STARc.*38T>G (n.*38T>G)
n.2865T>G
c.738T>G
c.802T>G (p.Trp268Gly)
gnomAD v4
8g.38144236G>ACA2739983413STARc.*37C>T (n.*37C>T)
n.2864C>T
c.737C>T
c.801C>T (p.His267=)
8g.38144236G>CCA2739983414STARc.*37C>G (n.*37C>G)
n.2864C>G
c.737C>G
c.801C>G (p.His267Gln)
8g.38144236G>TCA2686931507STARc.*37C>A (n.*37C>A)
n.2864C>A
c.737C>A
c.801C>A (p.His267Gln)
gnomAD v4
8g.38144237T>ACA2739983416STARc.*36A>T (n.*36A>T)
n.2863A>T
c.736A>T
c.800A>T (p.His267Leu)
8g.38144237T>CCA581109591STARc.*36A>G (n.*36A>G)
n.2863A>G
c.736A>G
c.800A>G (p.His267Arg)
dbSNP gnomAD v2 gnomAD v4
8g.38144237T>GCA2739983415STARc.*36A>C (n.*36A>C)
n.2863A>C
c.736A>C
c.800A>C (p.His267Pro)
8g.38144237T=CA1777409167STARc.*36A= (n.*36A=)
n.2863A=
c.736A=
c.800A= (p.His267=)
8g.38144238G>ACA2686931511STARc.*35C>T (n.*35C>T)
n.2862C>T
c.735C>T
c.799C>T (p.His267Tyr)
gnomAD v4
8g.38144238G>CCA2739983417STARc.*35C>G (n.*35C>G)
n.2862C>G
c.735C>G
c.799C>G (p.His267Asp)
8g.38144238G>TCA2686931512STARc.*35C>A (n.*35C>A)
n.2862C>A
c.735C>A
c.799C>A (p.His267Asn)
gnomAD v4
8g.38144239C>ACA2686931514STARc.*34G>T (n.*34G>T)
n.2861G>T
c.734G>T
c.798G>T (p.Leu266=)
gnomAD v4
8g.38144239C=CA1777409169STARc.*34G= (n.*34G=)
n.2861G=
c.734G=
c.798G= (p.Leu266=)
8g.38144239C>GCA2739983418STARc.*34G>C (n.*34G>C)
n.2861G>C
c.734G>C
c.798G>C (p.Leu266=)
8g.38144239C>TCA4715108STARc.*34G>A (n.*34G>A)
n.2861G>A
c.734G>A
c.798G>A (p.Leu266=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144240A=CA1777409171STARc.*33T= (n.*33T=)
n.2860T=
c.733T=
c.797T= (p.Leu266=)
8g.38144240A>CCA2739983420STARc.*33T>G (n.*33T>G)
n.2860T>G
c.733T>G
c.797T>G (p.Leu266Arg)
8g.38144240A>GCA4715109STARc.*33T>C (n.*33T>C)
n.2860T>C
c.733T>C
c.797T>C (p.Leu266Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144240A>TCA2739983419STARc.*33T>A (n.*33T>A)
n.2860T>A
c.733T>A
c.797T>A (p.Leu266Gln)
8g.38144241G>ACA1777409174STARc.*32C>T (n.*32C>T)
n.2859C>T
c.732C>T
c.796C>T (p.Leu266=)
dbSNP gnomAD v4
8g.38144241G>CCA2686931522STARc.*32C>G (n.*32C>G)
n.2859C>G
c.732C>G
c.796C>G (p.Leu266Val)
gnomAD v4
8g.38144241G=CA1777409173STARc.*32C= (n.*32C=)
n.2859C=
c.732C=
c.796C= (p.Leu266=)
8g.38144241G>TCA2579143929STARc.*32C>A (n.*32C>A)
n.2859C>A
c.732C>A
c.796C>A (p.Leu266Met)
gnomAD v4
8g.38144242C>ACA2686931527STARc.*31G>T (n.*31G>T)
n.2858G>T
c.731G>T
c.795G>T (p.Gln265His)
gnomAD v4
8g.38144242C=CA1777409179STARc.*31G= (n.*31G=)
n.2858G=
c.731G=
c.795G= (p.Gln265=)
8g.38144242C>GCA581109592STARc.*31G>C (n.*31G>C)
n.2858G>C
c.731G>C
c.795G>C (p.Gln265His)
dbSNP gnomAD v2
8g.38144242C>TCA4715110STARc.*31G>A (n.*31G>A)
n.2858G>A
c.731G>A
c.795G>A (p.Gln265=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144243T>ACA581109593STARc.*30A>T (n.*30A>T)
n.2857A>T
c.730A>T
c.794A>T (p.Gln265Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144243T>CCA2739983421STARc.*30A>G (n.*30A>G)
n.2857A>G
c.730A>G
c.794A>G (p.Gln265Arg)
8g.38144243T>GCA2739983422STARc.*30A>C (n.*30A>C)
n.2857A>C
c.730A>C
c.794A>C (p.Gln265Pro)
8g.38144243T=CA1777409182STARc.*30A= (n.*30A=)
n.2857A=
c.730A=
c.794A= (p.Gln265=)
8g.38144244G>TCA2579143930STARc.*29C>A (n.*29C>A)
n.2856C>A
c.729C>A
c.793C>A (p.Gln265Lys)
gnomAD v4
8g.38144246dupCA2841816426STARc.*29dup (n.*29dup)
n.2856dup
c.729dup
c.793dup (p.Gln265ProfsTer20)
8g.38144246delCA2686931530STARc.*29del (n.*29del)
n.2856del
c.729del
c.793del (p.Gln265SerfsTer?)
gnomAD v4
8g.38144245G>ACA2686931532STARc.*28C>T (n.*28C>T)
n.2855C>T
c.728C>T
c.792C>T (p.Ala264=)
gnomAD v4
8g.38144245G>CCA4715111STARc.*28C>G (n.*28C>G)
n.2855C>G
c.728C>G
c.792C>G (p.Ala264=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144245G=CA1777409184STARc.*28C= (n.*28C=)
n.2855C=
c.728C=
c.792C= (p.Ala264=)
8g.38144245G>TCA2739983423STARc.*28C>A (n.*28C>A)
n.2855C>A
c.728C>A
c.792C>A (p.Ala264=)
8g.38144246G>ACA2686931534STARc.*27C>T (n.*27C>T)
n.2854C>T
c.727C>T
c.791C>T (p.Ala264Val)
gnomAD v4
8g.38144246G>CCA2739983424STARc.*27C>G (n.*27C>G)
n.2854C>G
c.727C>G
c.791C>G (p.Ala264Gly)
8g.38144246G>TCA2686931535STARc.*27C>A (n.*27C>A)
n.2854C>A
c.727C>A
c.791C>A (p.Ala264Asp)
gnomAD v4
8g.38144247C>ACA2686931538STARc.*26G>T (n.*26G>T)
n.2853G>T
c.726G>T
c.790G>T (p.Ala264Ser)
gnomAD v4
8g.38144247C=CA1777409188STARc.*26G= (n.*26G=)
n.2853G=
c.726G=
c.790G= (p.Ala264=)
8g.38144247C>TCA175090997STARc.*26G>A (n.*26G>A)
n.2853G>A
c.726G>A
c.790G>A (p.Ala264Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144249_38144250delCA2779765809STARc.*25_*26del (n.*25_*26del)
n.2852_2853del
c.725_726del
c.789_790del (p.Ala264ProfsTer20)
8g.38144248A=CA1777409190STARc.*25T= (n.*25T=)
n.2852T=
c.725T=
c.789T= (p.Cys263=)
8g.38144248A>CCA2739983425STARc.*25T>G (n.*25T>G)
n.2852T>G
c.725T>G
c.789T>G (p.Cys263Trp)
8g.38144248A>GCA2686931542STARc.*25T>C (n.*25T>C)
n.2852T>C
c.725T>C
c.789T>C (p.Cys263=)
gnomAD v4
8g.38144248A>TCA1777409191STARc.*25T>A (n.*25T>A)
n.2852T>A
c.725T>A
c.789T>A (p.Cys263Ter)
dbSNP gnomAD v4
8g.38144249C>ACA581109594STARc.*24G>T (n.*24G>T)
n.2851G>T
c.724G>T
c.788G>T (p.Cys263Phe)
dbSNP gnomAD v2 gnomAD v4
8g.38144249C=CA1777409193STARc.*24G= (n.*24G=)
n.2851G=
c.724G=
c.788G= (p.Cys263=)
8g.38144249C>GCA2686931547STARc.*24G>C (n.*24G>C)
n.2851G>C
c.724G>C
c.788G>C (p.Cys263Ser)
gnomAD v4
8g.38144249C>TCA2686931548STARc.*24G>A (n.*24G>A)
n.2851G>A
c.724G>A
c.788G>A (p.Cys263Tyr)
gnomAD v4
8g.38144250A=CA1777409195STARc.*23T= (n.*23T=)
n.2850T=
c.723T=
c.787T= (p.Cys263=)
8g.38144250A>CCA1777409197STARc.*23T>G (n.*23T>G)
n.2850T>G
c.723T>G
c.787T>G (p.Cys263Gly)
dbSNP gnomAD v4
8g.38144250A>GCA2686931553STARc.*23T>C (n.*23T>C)
n.2850T>C
c.723T>C
c.787T>C (p.Cys263Arg)
gnomAD v4
8g.38144250A>TCA1112876684STARc.*23T>A (n.*23T>A)
n.2850T>A
c.723T>A
c.787T>A (p.Cys263Ser)
dbSNP gnomAD v3 gnomAD v4
8g.38144251G>ACA2686931559STARc.*22C>T (n.*22C>T)
n.2849C>T
c.722C>T
c.786C>T (p.Asn262=)
gnomAD v4
8g.38144251G>CCA2739983426STARc.*22C>G (n.*22C>G)
n.2849C>G
c.722C>G
c.786C>G (p.Asn262Lys)
8g.38144251G>TCA652007743STARc.*22C>A (n.*22C>A)
n.2849C>A
c.722C>A
c.786C>A (p.Asn262Lys)
gnomAD v4 COSMIC
8g.38144252T>ACA2739983427STARc.*21A>T (n.*21A>T)
n.2848A>T
c.721A>T
c.785A>T (p.Asn262Ile)
8g.38144252T>CCA2739983428STARc.*21A>G (n.*21A>G)
n.2848A>G
c.721A>G
c.785A>G (p.Asn262Ser)
8g.38144252T>GCA2739983429STARc.*21A>C (n.*21A>C)
n.2848A>C
c.721A>C
c.785A>C (p.Asn262Thr)
8g.38144254G>ACA2739983430STARc.*19C>T (n.*19C>T)
n.2846C>T
c.719C>T
c.783C>T (p.Pro261=)
8g.38144254G>CCA2739983431STARc.*19C>G (n.*19C>G)
n.2846C>G
c.719C>G
c.783C>G (p.Pro261=)
8g.38144254G=CA1777409200STARc.*19C= (n.*19C=)
n.2846C=
c.719C=
c.783C= (p.Pro261=)
8g.38144254G>TCA4715112STARc.*19C>A (n.*19C>A)
n.2846C>A
c.719C>A
c.783C>A (p.Pro261=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144256dupCA2841816427STARc.*19dup (n.*19dup)
n.2846dup
c.719dup
c.783dup (p.Asn262GlnfsTer23)
8g.38144255G>ACA851456091STARc.*18C>T (n.*18C>T)
n.2845C>T
c.718C>T
c.782C>T (p.Pro261Leu)
dbSNP gnomAD v3 gnomAD v4
8g.38144255G>CCA2686931566STARc.*18C>G (n.*18C>G)
n.2845C>G
c.718C>G
c.782C>G (p.Pro261Arg)
gnomAD v4
8g.38144255G=CA1777409202STARc.*18C= (n.*18C=)
n.2845C=
c.718C=
c.782C= (p.Pro261=)
8g.38144255G>TCA2686931568STARc.*18C>A (n.*18C>A)
n.2845C>A
c.718C>A
c.782C>A (p.Pro261His)
gnomAD v4
8g.38144256G>ACA2686931569STARc.*17C>T (n.*17C>T)
n.2844C>T
c.717C>T
c.781C>T (p.Pro261Ser)
gnomAD v4
8g.38144256G>CCA2739983432STARc.*17C>G (n.*17C>G)
n.2844C>G
c.717C>G
c.781C>G (p.Pro261Ala)
8g.38144256G=CA1777409204STARc.*17C= (n.*17C=)
n.2844C=
c.717C=
c.781C= (p.Pro261=)
8g.38144256G>TCA1112876688STARc.*17C>A (n.*17C>A)
n.2844C>A
c.717C>A
c.781C>A (p.Pro261Thr)
dbSNP gnomAD v3 gnomAD v4
8g.38144257A>CCA2739983435STARc.*16T>G (n.*16T>G)
n.2843T>G
c.716T>G
c.780T>G (p.Val260=)
8g.38144257A>GCA2739983434STARc.*16T>C (n.*16T>C)
n.2843T>C
c.716T>C
c.780T>C (p.Val260=)
8g.38144257A>TCA2739983433STARc.*16T>A (n.*16T>A)
n.2843T>A
c.716T>A
c.780T>A (p.Val260=)
8g.38144261_38144278delCA2686931572STARc.857_*16del (n.[c.857_*16del;Ter286SerextTer24])
n.2826_2843del
c.699_716del
c.763_780del (p.Glu255_Val260del)
gnomAD v4
8g.38144258A>CCA2739983436STARc.*15T>G (n.*15T>G)
n.2842T>G
c.715T>G
c.779T>G (p.Val260Gly)
8g.38144258A>GCA2739983437STARc.*15T>C (n.*15T>C)
n.2842T>C
c.715T>C
c.779T>C (p.Val260Ala)
8g.38144258A>TCA2739983438STARc.*15T>A (n.*15T>A)
n.2842T>A
c.715T>A
c.779T>A (p.Val260Asp)
8g.38144259C>ACA2686931573STARc.*14G>T (n.*14G>T)
n.2841G>T
c.714G>T
c.778G>T (p.Val260Phe)
gnomAD v4
8g.38144259C>TCA2779765810STARc.*14G>A (n.*14G>A)
n.2841G>A
c.714G>A
c.778G>A (p.Val260Ile)
8g.38144260A>CCA2739983439STARc.*13T>G (n.*13T>G)
n.2840T>G
c.713T>G
c.777T>G (p.Ala259=)
8g.38144260A>GCA2686931574STARc.*13T>C (n.*13T>C)
n.2840T>C
c.713T>C
c.777T>C (p.Ala259=)
gnomAD v4
8g.38144260A>TCA2739983440STARc.*13T>A (n.*13T>A)
n.2840T>A
c.713T>A
c.777T>A (p.Ala259=)
8g.38144261G>ACA2686931575STARc.*12C>T (n.*12C>T)
n.2839C>T
c.712C>T
c.776C>T (p.Ala259Val)
gnomAD v4
8g.38144261G>CCA2739983441STARc.*12C>G (n.*12C>G)
n.2839C>G
c.712C>G
c.776C>G (p.Ala259Gly)
8g.38144261G>TCA2739983442STARc.*12C>A (n.*12C>A)
n.2839C>A
c.712C>A
c.776C>A (p.Ala259Asp)
8g.38144262C>ACA2686931576STARc.*11G>T (n.*11G>T)
n.2838G>T
c.711G>T
c.775G>T (p.Ala259Ser)
gnomAD v4
8g.38144262C=CA1777409208STARc.*11G= (n.*11G=)
n.2838G=
c.711G=
c.775G= (p.Ala259=)
8g.38144262C>TCA581109595STARc.*11G>A (n.*11G>A)
n.2838G>A
c.711G>A
c.775G>A (p.Ala259Thr)
dbSNP gnomAD v2 gnomAD v4
8g.38144263A=CA1777409211STARc.*10T= (n.*10T=)
n.2837T=
c.710T=
c.774T= (p.Pro258=)
8g.38144263A>CCA2739983443STARc.*10T>G (n.*10T>G)
n.2837T>G
c.710T>G
c.774T>G (p.Pro258=)
8g.38144263A>GCA2739983444STARc.*10T>C (n.*10T>C)
n.2837T>C
c.710T>C
c.774T>C (p.Pro258=)
8g.38144263A>TCA175091003STARc.*10T>A (n.*10T>A)
n.2837T>A
c.710T>A
c.774T>A (p.Pro258=)
dbSNP gnomAD v2 gnomAD v4
8g.38144264G>ACA2686931579STARc.*9C>T (n.*9C>T)
n.2836C>T
c.709C>T
c.773C>T (p.Pro258Leu)
gnomAD v4
8g.38144264G>CCA2739983445STARc.*9C>G (n.*9C>G)
n.2836C>G
c.709C>G
c.773C>G (p.Pro258Arg)
8g.38144264G>TCA2739983446STARc.*9C>A (n.*9C>A)
n.2836C>A
c.709C>A
c.773C>A (p.Pro258His)
8g.38144265G>CCA2739983447STARc.*8C>G (n.*8C>G)
n.2835C>G
c.708C>G
c.772C>G (p.Pro258Ala)
8g.38144265G>TCA2686931580STARc.*8C>A (n.*8C>A)
n.2835C>A
c.708C>A
c.772C>A (p.Pro258Thr)
gnomAD v4
8g.38144266C>ACA2686931583STARc.*7G>T (n.*7G>T)
n.2834G>T
c.707G>T
c.771G>T (p.Gln257His)
gnomAD v4
8g.38144266C>GCA2739983449STARc.*7G>C (n.*7G>C)
n.2834G>C
c.707G>C
c.771G>C (p.Gln257His)
8g.38144266C>TCA2739983448STARc.*7G>A (n.*7G>A)
n.2834G>A
c.707G>A
c.771G>A (p.Gln257=)
8g.38144267T>ACA2739983450STARc.*6A>T (n.*6A>T)
n.2833A>T
c.706A>T
c.770A>T (p.Gln257Leu)
8g.38144267T>CCA2739983451STARc.*6A>G (n.*6A>G)
n.2833A>G
c.706A>G
c.770A>G (p.Gln257Arg)
8g.38144267T>GCA2739983452STARc.*6A>C (n.*6A>C)
n.2833A>C
c.706A>C
c.770A>C (p.Gln257Pro)
8g.38144268G>ACA4715113STARc.*5C>T (n.*5C>T)
n.2832C>T
c.705C>T
c.769C>T (p.Gln257Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144268G>CCA851456099STARc.*5C>G (n.*5C>G)
n.2832C>G
c.705C>G
c.769C>G (p.Gln257Glu)
dbSNP
8g.38144268G=CA1777409213STARc.*5C= (n.*5C=)
n.2832C=
c.705C=
c.769C= (p.Gln257=)
8g.38144268G>TCA2841816428STARc.*5C>A (n.*5C>A)
n.2832C>A
c.705C>A
c.769C>A (p.Gln257Lys)
8g.38144269G>ACA2739983453STARc.*4C>T (n.*4C>T)
n.2831C>T
c.704C>T
c.768C>T (p.Asp256=)
8g.38144269G>CCA2739983454STARc.*4C>G (n.*4C>G)
n.2831C>G
c.704C>G
c.768C>G (p.Asp256Glu)
8g.38144269G>TCA2579143931STARc.*4C>A (n.*4C>A)
n.2831C>A
c.704C>A
c.768C>A (p.Asp256Glu)
8g.38144270T>ACA2739983455STARc.*3A>T (n.*3A>T)
n.2830A>T
c.703A>T
c.767A>T (p.Asp256Val)
8g.38144270T>CCA2739983456STARc.*3A>G (n.*3A>G)
n.2830A>G
c.703A>G
c.767A>G (p.Asp256Gly)
8g.38144270T>GCA1777409217STARc.*3A>C (n.*3A>C)
n.2830A>C
c.703A>C
c.767A>C (p.Asp256Ala)
dbSNP
8g.38144270T=CA1777409215STARc.*3A= (n.*3A=)
n.2830A=
c.703A=
c.767A= (p.Asp256=)
8g.38144271C>ACA2686931587STARc.*2G>T (n.*2G>T)
n.2829G>T
c.702G>T
c.766G>T (p.Asp256Tyr)
gnomAD v4
8g.38144271C>GCA2739983457STARc.*2G>C (n.*2G>C)
n.2829G>C
c.702G>C
c.766G>C (p.Asp256His)
8g.38144272T>ACA2739983460STARc.*1A>T (n.*1A>T)
n.2828A>T
c.701A>T
c.765A>T (p.Glu255Asp)
8g.38144272T>CCA2739983458STARc.*1A>G (n.*1A>G)
n.2828A>G
c.701A>G
c.765A>G (p.Glu255=)
8g.38144272T>GCA2739983459STARc.*1A>C (n.*1A>C)
n.2828A>C
c.701A>C
c.765A>C (p.Glu255Asp)
8g.38144273delCA2841816429STARc.*1del (n.*1del)
n.2828del
c.701del
c.765del (p.Asp256ThrfsTer?)
8g.38144273T>ACA370695451STARc.858A>T (p.Ter286Cys)
n.2827A>T
c.700A>T
c.764A>T (p.Glu255Val)
8g.38144273T>CCA370695452STARc.858A>G (p.Ter286Trp)
n.2827A>G
c.700A>G
c.764A>G (p.Glu255Gly)
8g.38144273T>GCA370695453STARc.858A>C (p.Ter286Cys)
n.2827A>C
c.700A>C
c.764A>C (p.Glu255Ala)
gnomAD v4
8g.38144273_38144274insGGCA2686931591STARc.857_858insCC (p.Ter286CysextTer?)
n.2826_2827insCC
c.699_700insCC
c.763_764insCC (p.Glu255AlafsTer?)
gnomAD v4
8g.38144274C>ACA370695455STARc.857G>T (p.Ter286Leu)
n.2826G>T
c.699G>T
c.763G>T (p.Glu255Ter)
gnomAD v4
8g.38144274C=CA1777409219STARc.857G= (p.Ter286=)
n.2826G=
c.699G=
c.763G= (p.Glu255=)
8g.38144274C>GCA370695458STARc.857G>C (p.Ter286Ser)
n.2826G>C
c.699G>C
c.763G>C (p.Glu255Gln)
dbSNP gnomAD v2
8g.38144274C>TCA460374906STARc.857G>A (p.Ter286=)
n.2826G>A
c.699G>A
c.763G>A (p.Glu255Lys)
8g.38144274dupCA2686931590STARc.857dup (p.Ter286TrpextTer?)
n.2826dup
c.699dup
c.763dup (p.Glu255GlyfsTer30)
gnomAD v4
8g.38144275A>CCA370695459STARc.856T>G (p.Ter286Gly)
n.2825T>G
c.698T>G
c.762T>G (p.Val254=)
8g.38144275A>GCA370695463STARc.856T>C (p.Ter286Arg)
n.2825T>C
c.698T>C
c.762T>C (p.Val254=)
gnomAD v4
8g.38144275A>TCA370695460STARc.856T>A (p.Ter286Arg)
n.2825T>A
c.698T>A
c.762T>A (p.Val254=)
8g.38144276A=CA1777409224STARc.855T= (p.Cys285=)
n.2824T=
c.697T=
c.761T= (p.Val254=)
8g.38144276A>CCA370695466STARc.855T>G (p.Cys285Trp)
n.2824T>G
c.697T>G
c.761T>G (p.Val254Gly)
8g.38144276A>GCA460374907STARc.855T>C (p.Cys285=)
n.2824T>C
c.697T>C
c.761T>C (p.Val254Ala)
ClinVar dbSNP gnomAD v4
8g.38144276A>TCA370695468STARc.855T>A (p.Cys285Ter)
n.2824T>A
c.697T>A
c.761T>A (p.Val254Asp)
8g.38144277C>ACA370695472STARc.854G>T (p.Cys285Phe)
n.2823G>T
c.696G>T
c.760G>T (p.Val254Phe)
gnomAD v4
8g.38144277C>GCA370695474STARc.854G>C (p.Cys285Ser)
n.2823G>C
c.696G>C
c.760G>C (p.Val254Leu)
8g.38144277C>TCA370695476STARc.854G>A (p.Cys285Tyr)
n.2823G>A
c.696G>A
c.760G>A (p.Val254Ile)
8g.38144278A>CCA370695480STARc.853T>G (p.Cys285Gly)
n.2822T>G
c.695T>G
c.759T>G (p.Gly253=)
8g.38144278A>GCA370695487STARc.853T>C (p.Cys285Arg)
n.2822T>C
c.695T>C
c.759T>C (p.Gly253=)
8g.38144278A>TCA370695488STARc.853T>A (p.Cys285Ser)
n.2822T>A
c.695T>A
c.759T>A (p.Gly253=)
8g.38144279C>ACA370695490STARc.852G>T (p.Arg284Ser)
n.2821G>T
c.694G>T
c.758G>T (p.Gly253Val)
8g.38144279C>GCA370695493STARc.852G>C (p.Arg284Ser)
n.2821G>C
c.694G>C
c.758G>C (p.Gly253Ala)
8g.38144279C>TCA460374908STARc.852G>A (p.Arg284=)
n.2821G>A
c.694G>A
c.758G>A (p.Gly253Asp)
8g.38144280delCA2686931596STARc.852del (p.Arg284SerfsTer?)
n.2821del
c.694del
c.758del (p.Gly253ValfsTer?)
gnomAD v4
8g.38144280C>ACA370695496STARc.851G>T (p.Arg284Met)
n.2820G>T
c.693G>T
c.757G>T (p.Gly253Cys)
8g.38144280C=CA1777409227STARc.851G= (p.Arg284=)
n.2820G=
c.693G=
c.757G= (p.Gly253=)
8g.38144280C>GCA370695498STARc.851G>C (p.Arg284Thr)
n.2820G>C
c.693G>C
c.757G>C (p.Gly253Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144280C>TCA370695501STARc.851G>A (p.Arg284Lys)
n.2820G>A
c.693G>A
c.757G>A (p.Gly253Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.38144281T>ACA370695502STARc.850A>T (p.Arg284Trp)
n.2819A>T
c.692A>T
c.756A>T (p.Pro252=)
8g.38144281T>CCA370695504STARc.850A>G (p.Arg284Gly)
n.2819A>G
c.692A>G
c.756A>G (p.Pro252=)
dbSNP
8g.38144281T>GCA460374909STARc.850A>C (p.Arg284=)
n.2819A>C
c.692A>C
c.756A>C (p.Pro252=)
8g.38144281T=CA1777409230STARc.850A= (p.Arg284=)
n.2819A=
c.692A=
c.756A= (p.Pro252=)
8g.38144282G>ACA460374910STARc.849C>T (p.Ala283=)
n.2818C>T
c.691C>T
c.755C>T (p.Pro252Leu)
8g.38144282G>CCA460374912STARc.849C>G (p.Ala283=)
n.2818C>G
c.691C>G
c.755C>G (p.Pro252Arg)
8g.38144282G=CA1777409232STARc.849C= (p.Ala283=)
n.2818C=
c.691C=
c.755C= (p.Pro252=)
8g.38144282G>TCA460374911STARc.849C>A (p.Ala283=)
n.2818C>A
c.691C>A
c.755C>A (p.Pro252Gln)
dbSNP gnomAD v2 gnomAD v4
8g.38144283G>ACA4715114STARc.848C>T (p.Ala283Val)
n.2817C>T
c.690C>T
c.754C>T (p.Pro252Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144283G>CCA370695507STARc.848C>G (p.Ala283Gly)
n.2817C>G
c.690C>G
c.754C>G (p.Pro252Ala)
8g.38144283G=CA1777409235STARc.848C= (p.Ala283=)
n.2817C=
c.690C=
c.754C= (p.Pro252=)
8g.38144283G>TCA370695509STARc.848C>A (p.Ala283Asp)
n.2817C>A
c.690C>A
c.754C>A (p.Pro252Thr)
gnomAD v4
8g.38144284C>ACA370695512STARc.847G>T (p.Ala283Ser)
n.2816G>T
c.689G>T
c.753G>T (p.Lys251Asn)
8g.38144284C=CA1777409237STARc.847G= (p.Ala283=)
n.2816G=
c.689G=
c.753G= (p.Lys251=)
8g.38144284C>GCA370695513STARc.847G>C (p.Ala283Pro)
n.2816G>C
c.689G>C
c.753G>C (p.Lys251Asn)
8g.38144284C>TCA370695515STARc.847G>A (p.Ala283Thr)
n.2816G>A
c.689G>A
c.753G>A (p.Lys251=)
dbSNP gnomAD v2
8g.38144285T>ACA370695517STARc.846A>T (p.Glu282Asp)
n.2815A>T
c.688A>T
c.752A>T (p.Lys251Met)
8g.38144285T>CCA460374913STARc.846A>G (p.Glu282=)
n.2815A>G
c.688A>G
c.752A>G (p.Lys251Arg)
8g.38144285T>GCA370695519STARc.846A>C (p.Glu282Asp)
n.2815A>C
c.688A>C
c.752A>C (p.Lys251Thr)
8g.38144286T>ACA370695520STARc.845A>T (p.Glu282Val)
n.2814A>T
c.687A>T
c.751A>T (p.Lys251Ter)
8g.38144286T>CCA370695522STARc.845A>G (p.Glu282Gly)
n.2814A>G
c.687A>G
c.751A>G (p.Lys251Glu)
8g.38144286T>GCA370695524STARc.845A>C (p.Glu282Ala)
n.2814A>C
c.687A>C
c.751A>C (p.Lys251Gln)
8g.38144287C>ACA370695527STARc.844G>T (p.Glu282Ter)
n.2813G>T
c.686G>T
c.750G>T (p.Leu250=)
8g.38144287C=CA1777409239STARc.844G= (p.Glu282=)
n.2813G=
c.686G=
c.750G= (p.Leu250=)
8g.38144287C>GCA370695529STARc.844G>C (p.Glu282Gln)
n.2813G>C
c.686G>C
c.750G>C (p.Leu250=)
8g.38144287C>TCA370695525STARc.844G>A (p.Glu282Lys)
n.2813G>A
c.686G>A
c.750G>A (p.Leu250=)
gnomAD v4
8g.38144287_38144288insGCA1777409241STARc.843_844insC (p.Glu282ArgfsTer?)
n.2812_2813insC
c.685_686insC
c.749_750insC (p.Lys251GlufsTer5)
dbSNP
8g.38144288A=CA1777409242STARc.843T= (p.Ser281=)
n.2812T=
c.685T=
c.749T= (p.Leu250=)
8g.38144288A>CCA460374914STARc.843T>G (p.Ser281=)
n.2812T>G
c.685T>G
c.749T>G (p.Leu250Arg)
8g.38144288A>GCA4715115STARc.843T>C (p.Ser281=)
n.2812T>C
c.685T>C
c.749T>C (p.Leu250Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144288A>TCA460374915STARc.843T>A (p.Ser281=)
n.2812T>A
c.685T>A
c.749T>A (p.Leu250Gln)
gnomAD v4
8g.38144289G>ACA4715116STARc.842C>T (p.Ser281Phe)
n.2811C>T
c.684C>T
c.748C>T (p.Leu250=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144289G>CCA370695530STARc.842C>G (p.Ser281Cys)
n.2811C>G
c.684C>G
c.748C>G (p.Leu250Val)
8g.38144289G=CA1777409245STARc.842C= (p.Ser281=)
n.2811C=
c.684C=
c.748C= (p.Leu250=)
8g.38144289G>TCA370695532STARc.842C>A (p.Ser281Tyr)
n.2811C>A
c.684C>A
c.748C>A (p.Leu250Met)
8g.38144290A=CA1777409247STARc.841T= (p.Ser281=)
n.2810T=
c.683T=
c.747T= (p.Pro249=)
8g.38144290A>CCA370695534STARc.841T>G (p.Ser281Ala)
n.2810T>G
c.683T>G
c.747T>G (p.Pro249=)
8g.38144290A>GCA370695540STARc.841T>C (p.Ser281Pro)
n.2810T>C
c.683T>C
c.747T>C (p.Pro249=)
dbSNP gnomAD v2 gnomAD v4
8g.38144290A>TCA4715117STARc.841T>A (p.Ser281Thr)
n.2810T>A
c.683T>A
c.747T>A (p.Pro249=)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144291G>ACA460374916STARc.840C>T (p.Ala280=)
n.2809C>T
c.682C>T
c.746C>T (p.Pro249Leu)
8g.38144291G>CCA460374917STARc.840C>G (p.Ala280=)
n.2809C>G
c.682C>G
c.746C>G (p.Pro249Arg)
8g.38144291G>TCA460374918STARc.840C>A (p.Ala280=)
n.2809C>A
c.682C>A
c.746C>A (p.Pro249His)
gnomAD v4
8g.38144292G>ACA370695546STARc.839C>T (p.Ala280Val)
n.2808C>T
c.681C>T
c.745C>T (p.Pro249Ser)
8g.38144292G>CCA370695550STARc.839C>G (p.Ala280Gly)
n.2808C>G
c.681C>G
c.745C>G (p.Pro249Ala)
8g.38144292G>TCA370695552STARc.839C>A (p.Ala280Asp)
n.2808C>A
c.681C>A
c.745C>A (p.Pro249Thr)
8g.38144293C>ACA370695556STARc.838G>T (p.Ala280Ser)
n.2807G>T
c.680G>T
c.744G>T (p.Leu248=)
dbSNP
8g.38144293C=CA1777409250STARc.838G= (p.Ala280=)
n.2807G=
c.680G=
c.744G= (p.Leu248=)
8g.38144293C>GCA370695558STARc.838G>C (p.Ala280Pro)
n.2807G>C
c.680G>C
c.744G>C (p.Leu248=)
8g.38144293C>TCA370695563STARc.838G>A (p.Ala280Thr)
n.2807G>A
c.680G>A
c.744G>A (p.Leu248=)
gnomAD v4
8g.38144294A>CCA460374919STARc.837T>G (p.Pro279=)
n.2806T>G
c.679T>G
c.743T>G (p.Leu248Arg)
8g.38144294A>GCA460374920STARc.837T>C (p.Pro279=)
n.2806T>C
c.679T>C
c.743T>C (p.Leu248Pro)
ClinVar
8g.38144294A>TCA460374921STARc.837T>A (p.Pro279=)
n.2806T>A
c.679T>A
c.743T>A (p.Leu248Gln)
8g.38144295G>ACA370695569STARc.836C>T (p.Pro279Leu)
n.2805C>T
c.678C>T
c.742C>T (p.Leu248=)
gnomAD v4
8g.38144295G>CCA4715118STARc.836C>G (p.Pro279Arg)
n.2805C>G
c.678C>G
c.742C>G (p.Leu248Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144295G=CA1777409252STARc.836C= (p.Pro279=)
n.2805C=
c.678C=
c.742C= (p.Leu248=)
8g.38144295G>TCA370695566STARc.836C>A (p.Pro279His)
n.2805C>A
c.678C>A
c.742C>A (p.Leu248Met)
gnomAD v4
8g.38144297dupCA2841816430STARc.836dup (p.Ala280CysfsTer3)
n.2805dup
c.678dup
c.742dup (p.Leu248ProfsTer8)
8g.38144296G>ACA370695572STARc.835C>T (p.Pro279Ser)
n.2804C>T
c.677C>T
c.741C>T (p.Thr247=)
gnomAD v4
8g.38144296G>CCA370695575STARc.835C>G (p.Pro279Ala)
n.2804C>G
c.677C>G
c.741C>G (p.Thr247=)
8g.38144296G=CA1777409254STARc.835C= (p.Pro279=)
n.2804C=
c.677C=
c.741C= (p.Thr247=)
8g.38144296G>TCA370695577STARc.835C>A (p.Pro279Thr)
n.2804C>A
c.677C>A
c.741C>A (p.Thr247=)
dbSNP
8g.38144297G>ACA460374922STARc.834C>T (p.His278=)
n.2803C>T
c.676C>T
c.740C>T (p.Thr247Ile)
8g.38144297G>CCA370695583STARc.834C>G (p.His278Gln)
n.2803C>G
c.676C>G
c.740C>G (p.Thr247Ser)
8g.38144297G>TCA370695586STARc.834C>A (p.His278Gln)
n.2803C>A
c.676C>A
c.740C>A (p.Thr247Asn)
gnomAD v4
8g.38144298T>ACA370695595STARc.833A>T (p.His278Leu)
n.2802A>T
c.675A>T
c.739A>T (p.Thr247Ser)
8g.38144298T>CCA370695597STARc.833A>G (p.His278Arg)
n.2802A>G
c.675A>G
c.739A>G (p.Thr247Ala)
8g.38144298T>GCA4715119STARc.833A>C (p.His278Pro)
n.2802A>C
c.675A>C
c.739A>C (p.Thr247Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.38144298T=CA1777409256STARc.833A= (p.His278=)
n.2802A=
c.675A=
c.739A= (p.Thr247=)
8g.38144299G>ACA370695600STARc.832C>T (p.His278Tyr)
n.2801C>T
c.674C>T
c.738C>T (p.Pro246=)
8g.38144299G>CCA370695604STARc.832C>G (p.His278Asp)
n.2801C>G
c.674C>G
c.738C>G (p.Pro246=)
8g.38144299G>TCA370695606STARc.832C>A (p.His278Asn)
n.2801C>A
c.674C>A
c.738C>A (p.Pro246=)
gnomAD v4
8g.38144301delCA2779765813STARc.832del (p.His278ThrfsTer?)
n.2801del
c.674del
c.738del (p.Thr247ProfsTer4)
8g.38144300G>ACA460374923STARc.831C>T (p.Ser277=)
n.2800C>T
c.673C>T
c.737C>T (p.Pro246Leu)
COSMIC
8g.38144300G>CCA460374924STARc.831C>G (p.Ser277=)
n.2800C>G
c.673C>G
c.737C>G (p.Pro246Arg)
8g.38144300G>TCA460374925STARc.831C>A (p.Ser277=)
n.2800C>A
c.673C>A
c.737C>A (p.Pro246His)
8g.38144301G>ACA370695609STARc.830C>T (p.Ser277Phe)
n.2799C>T
c.672C>T
c.736C>T (p.Pro246Ser)
8g.38144301G>CCA4715120STARc.830C>G (p.Ser277Cys)
n.2799C>G
c.672C>G
c.736C>G (p.Pro246Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.38144301G=CA1777409260STARc.830C= (p.Ser277=)
n.2799C=
c.672C=
c.736C= (p.Pro246=)
8g.38144301G>TCA370695614STARc.830C>A (p.Ser277Tyr)
n.2799C>A
c.672C>A
c.736C>A (p.Pro246Thr)
gnomAD v4

Number of alleles fetched