Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.38144202C= | CA1777409137 | STAR | c.*71G= (n.*71G=) n.2898G= c.835G= (p.Glu279=) | |
8 | g.38144202C>T | CA4715104 | STAR | c.*71G>A (n.*71G>A) n.2898G>A c.835G>A (p.Glu279Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144203C>A | CA2686931445 | STAR | c.*70G>T (n.*70G>T) n.2897G>T c.834G>T (p.Leu278=) | gnomAD v4 |
8 | g.38144204A= | CA1777409139 | STAR | c.*69T= (n.*69T=) n.2896T= c.833T= (p.Leu278=) | |
8 | g.38144204A>G | CA1112876675 | STAR | c.*69T>C (n.*69T>C) n.2896T>C c.833T>C (p.Leu278Pro) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.38144205G>A | CA175090955 | STAR | c.*68C>T (n.*68C>T) n.2895C>T c.832C>T (p.Leu278=) | dbSNP |
8 | g.38144205G= | CA1777409140 | STAR | c.*68C= (n.*68C=) n.2895C= c.832C= (p.Leu278=) | |
8 | g.38144205G>T | CA2686931448 | STAR | c.*68C>A (n.*68C>A) n.2895C>A c.832C>A (p.Leu278Met) | gnomAD v4 |
8 | g.38144207A= | CA1777409142 | STAR | c.*66T= (n.*66T=) n.2893T= c.830T= (p.Leu277=) | |
8 | g.38144207A>G | CA4715105 | STAR | c.*66T>C (n.*66T>C) n.2893T>C c.830T>C (p.Leu277Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144208G>C | CA581109585 | STAR | c.*65C>G (n.*65C>G) n.2892C>G c.829C>G (p.Leu277Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144208G= | CA1777409144 | STAR | c.*65C= (n.*65C=) n.2892C= c.829C= (p.Leu277=) | |
8 | g.38144208G>T | CA2579143924 | STAR | c.*65C>A (n.*65C>A) n.2892C>A c.829C>A (p.Leu277Ile) | gnomAD v4 |
8 | g.38144209G>T | CA2686931466 | STAR | c.*64C>A (n.*64C>A) n.2891C>A c.828C>A (p.Ser276=) | gnomAD v4 |
8 | g.38144210G>A | CA581109586 | STAR | c.*63C>T (n.*63C>T) n.2890C>T c.827C>T (p.Ser276Phe) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38144210G>C | CA2686931468 | STAR | c.*63C>G (n.*63C>G) n.2890C>G c.827C>G (p.Ser276Cys) | gnomAD v4 |
8 | g.38144210G= | CA1777409146 | STAR | c.*63C= (n.*63C=) n.2890C= c.827C= (p.Ser276=) | |
8 | g.38144210G>T | CA2579143925 | STAR | c.*63C>A (n.*63C>A) n.2890C>A c.827C>A (p.Ser276Tyr) | gnomAD v4 |
8 | g.38144213_38144216delinsTCTC | CA1777409147 | STAR | c.*57_*60delinsGAGA (n.*57_*60delinsGAGA) n.2884_2887delinsGAGA c.821_824delinsGAGA (p.Gly274=) | |
8 | g.38144214C>G | CA2686931470 | STAR | c.*59G>C (n.*59G>C) n.2886G>C c.823G>C (p.Glu275Gln) | gnomAD v4 |
8 | g.38144214C>T | CA2579143926 | STAR | c.*59G>A (n.*59G>A) n.2886G>A c.823G>A (p.Glu275Lys) | |
8 | g.38144216_38144218del | CA4715106 | STAR | c.*57_*59del (n.*57_*59del) n.2884_2886del c.821_823del (p.Gly274del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144215T>A | CA2686931471 | STAR | c.*58A>T (n.*58A>T) n.2885A>T c.822A>T (p.Gly274=) | gnomAD v4 |
8 | g.38144216C>A | CA2686931472 | STAR | c.*57G>T (n.*57G>T) n.2884G>T c.821G>T (p.Gly274Val) | gnomAD v4 |
8 | g.38144216C= | CA1777409149 | STAR | c.*57G= (n.*57G=) n.2884G= c.821G= (p.Gly274=) | |
8 | g.38144216C>G | CA581109587 | STAR | c.*57G>C (n.*57G>C) n.2884G>C c.821G>C (p.Gly274Ala) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38144216C>T | CA2686931474 | STAR | c.*57G>A (n.*57G>A) n.2884G>A c.821G>A (p.Gly274Glu) | gnomAD v4 |
8 | g.38144217C>A | CA2686931475 | STAR | c.*56G>T (n.*56G>T) n.2883G>T c.820G>T (p.Gly274Ter) | gnomAD v4 |
8 | g.38144218T>A | CA2686931476 | STAR | c.*55A>T (n.*55A>T) n.2882A>T c.819A>T (p.Ser273=) | gnomAD v4 |
8 | g.38144219G>A | CA652007739 | STAR | c.*54C>T (n.*54C>T) n.2881C>T c.818C>T (p.Ser273Leu) | COSMIC |
8 | g.38144219G>T | CA2686931478 | STAR | c.*54C>A (n.*54C>A) n.2881C>A c.818C>A (p.Ser273Ter) | gnomAD v4 |
8 | g.38144221T>G | CA2579143927 | STAR | c.*52A>C (n.*52A>C) n.2879A>C c.816A>C (p.Ser272=) | gnomAD v4 |
8 | g.38144222G>A | CA2686931481 | STAR | c.*51C>T (n.*51C>T) n.2878C>T c.815C>T (p.Ser272Leu) | gnomAD v4 |
8 | g.38144222G>C | CA581109588 | STAR | c.*51C>G (n.*51C>G) n.2878C>G c.815C>G (p.Ser272Ter) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38144222G= | CA1777409151 | STAR | c.*51C= (n.*51C=) n.2878C= c.815C= (p.Ser272=) | |
8 | g.38144222G>T | CA2686931483 | STAR | c.*51C>A (n.*51C>A) n.2878C>A c.815C>A (p.Ser272Ter) | gnomAD v4 |
8 | g.38144223A= | CA1777409153 | STAR | c.*50T= (n.*50T=) n.2877T= c.814T= (p.Ser272=) | |
8 | g.38144223A>G | CA581109589 | STAR | c.*50T>C (n.*50T>C) n.2877T>C c.814T>C (p.Ser272Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144223A>T | CA2841816425 | STAR | c.*50T>A (n.*50T>A) n.2877T>A c.814T>A (p.Ser272Thr) | |
8 | g.38144224G>A | CA1777409157 | STAR | c.*49C>T (n.*49C>T) n.2876C>T c.813C>T (p.Arg271=) | dbSNP gnomAD v4 |
8 | g.38144224G>C | CA2579143928 | STAR | c.*49C>G (n.*49C>G) n.2876C>G c.813C>G (p.Arg271=) | gnomAD v4 |
8 | g.38144224G= | CA1777409156 | STAR | c.*49C= (n.*49C=) n.2876C= c.813C= (p.Arg271=) | |
8 | g.38144224G>T | CA2686931487 | STAR | c.*49C>A (n.*49C>A) n.2876C>A c.813C>A (p.Arg271=) | gnomAD v4 |
8 | g.38144225C>A | CA2686931489 | STAR | c.*48G>T (n.*48G>T) n.2875G>T c.748G>T c.812G>T (p.Arg271Leu) | gnomAD v4 |
8 | g.38144225C= | CA1777409159 | STAR | c.*48G= (n.*48G=) n.2875G= c.748G= c.812G= (p.Arg271=) | |
8 | g.38144225C>T | CA581109590 | STAR | c.*48G>A (n.*48G>A) n.2875G>A c.748G>A c.812G>A (p.Arg271His) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38144226G>A | CA4715107 | STAR | c.*47C>T (n.*47C>T) n.2874C>T c.747C>T c.811C>T (p.Arg271Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144226G>C | CA2739983400 | STAR | c.*47C>G (n.*47C>G) n.2874C>G c.747C>G c.811C>G (p.Arg271Gly) | |
8 | g.38144226G= | CA1777409163 | STAR | c.*47C= (n.*47C=) n.2874C= c.747C= c.811C= (p.Arg271=) | |
8 | g.38144226G>T | CA2739983401 | STAR | c.*47C>A (n.*47C>A) n.2874C>A c.747C>A c.811C>A (p.Arg271Ser) | |
8 | g.38144227T>A | CA2739983402 | STAR | c.*46A>T (n.*46A>T) n.2873A>T c.746A>T c.810A>T (p.Thr270=) | |
8 | g.38144227T>C | CA2739983403 | STAR | c.*46A>G (n.*46A>G) n.2873A>G c.746A>G c.810A>G (p.Thr270=) | |
8 | g.38144227T>G | CA2739983404 | STAR | c.*46A>C (n.*46A>C) n.2873A>C c.746A>C c.810A>C (p.Thr270=) | |
8 | g.38144228G>A | CA1777409166 | STAR | c.*45C>T (n.*45C>T) n.2872C>T c.745C>T c.809C>T (p.Thr270Ile) | dbSNP gnomAD v4 |
8 | g.38144228G>C | CA2739983405 | STAR | c.*45C>G (n.*45C>G) n.2872C>G c.745C>G c.809C>G (p.Thr270Arg) | |
8 | g.38144228G= | CA1777409165 | STAR | c.*45C= (n.*45C=) n.2872C= c.745C= c.809C= (p.Thr270=) | |
8 | g.38144228G>T | CA2686931495 | STAR | c.*45C>A (n.*45C>A) n.2872C>A c.745C>A c.809C>A (p.Thr270Lys) | gnomAD v4 |
8 | g.38144229T>C | CA2686931496 | STAR | c.*44A>G (n.*44A>G) n.2871A>G c.744A>G c.808A>G (p.Thr270Ala) | gnomAD v4 |
8 | g.38144230G>A | CA2686931498 | STAR | c.*43C>T (n.*43C>T) n.2870C>T c.743C>T c.807C>T (p.Tyr269=) | gnomAD v4 |
8 | g.38144230G>C | CA2739983406 | STAR | c.*43C>G (n.*43C>G) n.2870C>G c.743C>G c.807C>G (p.Tyr269Ter) | |
8 | g.38144230G>T | CA2686931497 | STAR | c.*43C>A (n.*43C>A) n.2870C>A c.743C>A c.807C>A (p.Tyr269Ter) | gnomAD v4 |
8 | g.38144231T>A | CA2739983407 | STAR | c.*42A>T (n.*42A>T) n.2869A>T c.742A>T c.806A>T (p.Tyr269Phe) | |
8 | g.38144231T>C | CA2739983408 | STAR | c.*42A>G (n.*42A>G) n.2869A>G c.742A>G c.806A>G (p.Tyr269Cys) | |
8 | g.38144231T>G | CA2739983409 | STAR | c.*42A>C (n.*42A>C) n.2869A>C c.742A>C c.806A>C (p.Tyr269Ser) | |
8 | g.38144232A>G | CA2686931500 | STAR | c.*41T>C (n.*41T>C) n.2868T>C c.741T>C c.805T>C (p.Tyr269His) | gnomAD v4 |
8 | g.38144233C>A | CA2686931501 | STAR | c.*40G>T (n.*40G>T) n.2867G>T c.740G>T c.804G>T (p.Trp268Cys) | gnomAD v4 |
8 | g.38144233C>G | CA2739983410 | STAR | c.*40G>C (n.*40G>C) n.2867G>C c.740G>C c.804G>C (p.Trp268Cys) | |
8 | g.38144233C>T | CA2739983411 | STAR | c.*40G>A (n.*40G>A) n.2867G>A c.740G>A c.804G>A (p.Trp268Ter) | |
8 | g.38144234C>A | CA2686931505 | STAR | c.*39G>T (n.*39G>T) n.2866G>T c.739G>T c.803G>T (p.Trp268Leu) | gnomAD v4 |
8 | g.38144234C>G | CA2739983412 | STAR | c.*39G>C (n.*39G>C) n.2866G>C c.739G>C c.803G>C (p.Trp268Ser) | |
8 | g.38144234C>T | CA2686931503 | STAR | c.*39G>A (n.*39G>A) n.2866G>A c.739G>A c.803G>A (p.Trp268Ter) | gnomAD v4 |
8 | g.38144235A>C | CA2686931506 | STAR | c.*38T>G (n.*38T>G) n.2865T>G c.738T>G c.802T>G (p.Trp268Gly) | gnomAD v4 |
8 | g.38144236G>A | CA2739983413 | STAR | c.*37C>T (n.*37C>T) n.2864C>T c.737C>T c.801C>T (p.His267=) | |
8 | g.38144236G>C | CA2739983414 | STAR | c.*37C>G (n.*37C>G) n.2864C>G c.737C>G c.801C>G (p.His267Gln) | |
8 | g.38144236G>T | CA2686931507 | STAR | c.*37C>A (n.*37C>A) n.2864C>A c.737C>A c.801C>A (p.His267Gln) | gnomAD v4 |
8 | g.38144237T>A | CA2739983416 | STAR | c.*36A>T (n.*36A>T) n.2863A>T c.736A>T c.800A>T (p.His267Leu) | |
8 | g.38144237T>C | CA581109591 | STAR | c.*36A>G (n.*36A>G) n.2863A>G c.736A>G c.800A>G (p.His267Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38144237T>G | CA2739983415 | STAR | c.*36A>C (n.*36A>C) n.2863A>C c.736A>C c.800A>C (p.His267Pro) | |
8 | g.38144237T= | CA1777409167 | STAR | c.*36A= (n.*36A=) n.2863A= c.736A= c.800A= (p.His267=) | |
8 | g.38144238G>A | CA2686931511 | STAR | c.*35C>T (n.*35C>T) n.2862C>T c.735C>T c.799C>T (p.His267Tyr) | gnomAD v4 |
8 | g.38144238G>C | CA2739983417 | STAR | c.*35C>G (n.*35C>G) n.2862C>G c.735C>G c.799C>G (p.His267Asp) | |
8 | g.38144238G>T | CA2686931512 | STAR | c.*35C>A (n.*35C>A) n.2862C>A c.735C>A c.799C>A (p.His267Asn) | gnomAD v4 |
8 | g.38144239C>A | CA2686931514 | STAR | c.*34G>T (n.*34G>T) n.2861G>T c.734G>T c.798G>T (p.Leu266=) | gnomAD v4 |
8 | g.38144239C= | CA1777409169 | STAR | c.*34G= (n.*34G=) n.2861G= c.734G= c.798G= (p.Leu266=) | |
8 | g.38144239C>G | CA2739983418 | STAR | c.*34G>C (n.*34G>C) n.2861G>C c.734G>C c.798G>C (p.Leu266=) | |
8 | g.38144239C>T | CA4715108 | STAR | c.*34G>A (n.*34G>A) n.2861G>A c.734G>A c.798G>A (p.Leu266=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144240A= | CA1777409171 | STAR | c.*33T= (n.*33T=) n.2860T= c.733T= c.797T= (p.Leu266=) | |
8 | g.38144240A>C | CA2739983420 | STAR | c.*33T>G (n.*33T>G) n.2860T>G c.733T>G c.797T>G (p.Leu266Arg) | |
8 | g.38144240A>G | CA4715109 | STAR | c.*33T>C (n.*33T>C) n.2860T>C c.733T>C c.797T>C (p.Leu266Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144240A>T | CA2739983419 | STAR | c.*33T>A (n.*33T>A) n.2860T>A c.733T>A c.797T>A (p.Leu266Gln) | |
8 | g.38144241G>A | CA1777409174 | STAR | c.*32C>T (n.*32C>T) n.2859C>T c.732C>T c.796C>T (p.Leu266=) | dbSNP gnomAD v4 |
8 | g.38144241G>C | CA2686931522 | STAR | c.*32C>G (n.*32C>G) n.2859C>G c.732C>G c.796C>G (p.Leu266Val) | gnomAD v4 |
8 | g.38144241G= | CA1777409173 | STAR | c.*32C= (n.*32C=) n.2859C= c.732C= c.796C= (p.Leu266=) | |
8 | g.38144241G>T | CA2579143929 | STAR | c.*32C>A (n.*32C>A) n.2859C>A c.732C>A c.796C>A (p.Leu266Met) | gnomAD v4 |
8 | g.38144242C>A | CA2686931527 | STAR | c.*31G>T (n.*31G>T) n.2858G>T c.731G>T c.795G>T (p.Gln265His) | gnomAD v4 |
8 | g.38144242C= | CA1777409179 | STAR | c.*31G= (n.*31G=) n.2858G= c.731G= c.795G= (p.Gln265=) | |
8 | g.38144242C>G | CA581109592 | STAR | c.*31G>C (n.*31G>C) n.2858G>C c.731G>C c.795G>C (p.Gln265His) | dbSNP gnomAD v2 |
8 | g.38144242C>T | CA4715110 | STAR | c.*31G>A (n.*31G>A) n.2858G>A c.731G>A c.795G>A (p.Gln265=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144243T>A | CA581109593 | STAR | c.*30A>T (n.*30A>T) n.2857A>T c.730A>T c.794A>T (p.Gln265Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144243T>C | CA2739983421 | STAR | c.*30A>G (n.*30A>G) n.2857A>G c.730A>G c.794A>G (p.Gln265Arg) | |
8 | g.38144243T>G | CA2739983422 | STAR | c.*30A>C (n.*30A>C) n.2857A>C c.730A>C c.794A>C (p.Gln265Pro) | |
8 | g.38144243T= | CA1777409182 | STAR | c.*30A= (n.*30A=) n.2857A= c.730A= c.794A= (p.Gln265=) | |
8 | g.38144244G>T | CA2579143930 | STAR | c.*29C>A (n.*29C>A) n.2856C>A c.729C>A c.793C>A (p.Gln265Lys) | gnomAD v4 |
8 | g.38144246dup | CA2841816426 | STAR | c.*29dup (n.*29dup) n.2856dup c.729dup c.793dup (p.Gln265ProfsTer20) | |
8 | g.38144246del | CA2686931530 | STAR | c.*29del (n.*29del) n.2856del c.729del c.793del (p.Gln265SerfsTer?) | gnomAD v4 |
8 | g.38144245G>A | CA2686931532 | STAR | c.*28C>T (n.*28C>T) n.2855C>T c.728C>T c.792C>T (p.Ala264=) | gnomAD v4 |
8 | g.38144245G>C | CA4715111 | STAR | c.*28C>G (n.*28C>G) n.2855C>G c.728C>G c.792C>G (p.Ala264=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144245G= | CA1777409184 | STAR | c.*28C= (n.*28C=) n.2855C= c.728C= c.792C= (p.Ala264=) | |
8 | g.38144245G>T | CA2739983423 | STAR | c.*28C>A (n.*28C>A) n.2855C>A c.728C>A c.792C>A (p.Ala264=) | |
8 | g.38144246G>A | CA2686931534 | STAR | c.*27C>T (n.*27C>T) n.2854C>T c.727C>T c.791C>T (p.Ala264Val) | gnomAD v4 |
8 | g.38144246G>C | CA2739983424 | STAR | c.*27C>G (n.*27C>G) n.2854C>G c.727C>G c.791C>G (p.Ala264Gly) | |
8 | g.38144246G>T | CA2686931535 | STAR | c.*27C>A (n.*27C>A) n.2854C>A c.727C>A c.791C>A (p.Ala264Asp) | gnomAD v4 |
8 | g.38144247C>A | CA2686931538 | STAR | c.*26G>T (n.*26G>T) n.2853G>T c.726G>T c.790G>T (p.Ala264Ser) | gnomAD v4 |
8 | g.38144247C= | CA1777409188 | STAR | c.*26G= (n.*26G=) n.2853G= c.726G= c.790G= (p.Ala264=) | |
8 | g.38144247C>T | CA175090997 | STAR | c.*26G>A (n.*26G>A) n.2853G>A c.726G>A c.790G>A (p.Ala264Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144249_38144250del | CA2779765809 | STAR | c.*25_*26del (n.*25_*26del) n.2852_2853del c.725_726del c.789_790del (p.Ala264ProfsTer20) | |
8 | g.38144248A= | CA1777409190 | STAR | c.*25T= (n.*25T=) n.2852T= c.725T= c.789T= (p.Cys263=) | |
8 | g.38144248A>C | CA2739983425 | STAR | c.*25T>G (n.*25T>G) n.2852T>G c.725T>G c.789T>G (p.Cys263Trp) | |
8 | g.38144248A>G | CA2686931542 | STAR | c.*25T>C (n.*25T>C) n.2852T>C c.725T>C c.789T>C (p.Cys263=) | gnomAD v4 |
8 | g.38144248A>T | CA1777409191 | STAR | c.*25T>A (n.*25T>A) n.2852T>A c.725T>A c.789T>A (p.Cys263Ter) | dbSNP gnomAD v4 |
8 | g.38144249C>A | CA581109594 | STAR | c.*24G>T (n.*24G>T) n.2851G>T c.724G>T c.788G>T (p.Cys263Phe) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38144249C= | CA1777409193 | STAR | c.*24G= (n.*24G=) n.2851G= c.724G= c.788G= (p.Cys263=) | |
8 | g.38144249C>G | CA2686931547 | STAR | c.*24G>C (n.*24G>C) n.2851G>C c.724G>C c.788G>C (p.Cys263Ser) | gnomAD v4 |
8 | g.38144249C>T | CA2686931548 | STAR | c.*24G>A (n.*24G>A) n.2851G>A c.724G>A c.788G>A (p.Cys263Tyr) | gnomAD v4 |
8 | g.38144250A= | CA1777409195 | STAR | c.*23T= (n.*23T=) n.2850T= c.723T= c.787T= (p.Cys263=) | |
8 | g.38144250A>C | CA1777409197 | STAR | c.*23T>G (n.*23T>G) n.2850T>G c.723T>G c.787T>G (p.Cys263Gly) | dbSNP gnomAD v4 |
8 | g.38144250A>G | CA2686931553 | STAR | c.*23T>C (n.*23T>C) n.2850T>C c.723T>C c.787T>C (p.Cys263Arg) | gnomAD v4 |
8 | g.38144250A>T | CA1112876684 | STAR | c.*23T>A (n.*23T>A) n.2850T>A c.723T>A c.787T>A (p.Cys263Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.38144251G>A | CA2686931559 | STAR | c.*22C>T (n.*22C>T) n.2849C>T c.722C>T c.786C>T (p.Asn262=) | gnomAD v4 |
8 | g.38144251G>C | CA2739983426 | STAR | c.*22C>G (n.*22C>G) n.2849C>G c.722C>G c.786C>G (p.Asn262Lys) | |
8 | g.38144251G>T | CA652007743 | STAR | c.*22C>A (n.*22C>A) n.2849C>A c.722C>A c.786C>A (p.Asn262Lys) | gnomAD v4 COSMIC |
8 | g.38144252T>A | CA2739983427 | STAR | c.*21A>T (n.*21A>T) n.2848A>T c.721A>T c.785A>T (p.Asn262Ile) | |
8 | g.38144252T>C | CA2739983428 | STAR | c.*21A>G (n.*21A>G) n.2848A>G c.721A>G c.785A>G (p.Asn262Ser) | |
8 | g.38144252T>G | CA2739983429 | STAR | c.*21A>C (n.*21A>C) n.2848A>C c.721A>C c.785A>C (p.Asn262Thr) | |
8 | g.38144254G>A | CA2739983430 | STAR | c.*19C>T (n.*19C>T) n.2846C>T c.719C>T c.783C>T (p.Pro261=) | |
8 | g.38144254G>C | CA2739983431 | STAR | c.*19C>G (n.*19C>G) n.2846C>G c.719C>G c.783C>G (p.Pro261=) | |
8 | g.38144254G= | CA1777409200 | STAR | c.*19C= (n.*19C=) n.2846C= c.719C= c.783C= (p.Pro261=) | |
8 | g.38144254G>T | CA4715112 | STAR | c.*19C>A (n.*19C>A) n.2846C>A c.719C>A c.783C>A (p.Pro261=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144256dup | CA2841816427 | STAR | c.*19dup (n.*19dup) n.2846dup c.719dup c.783dup (p.Asn262GlnfsTer23) | |
8 | g.38144255G>A | CA851456091 | STAR | c.*18C>T (n.*18C>T) n.2845C>T c.718C>T c.782C>T (p.Pro261Leu) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.38144255G>C | CA2686931566 | STAR | c.*18C>G (n.*18C>G) n.2845C>G c.718C>G c.782C>G (p.Pro261Arg) | gnomAD v4 |
8 | g.38144255G= | CA1777409202 | STAR | c.*18C= (n.*18C=) n.2845C= c.718C= c.782C= (p.Pro261=) | |
8 | g.38144255G>T | CA2686931568 | STAR | c.*18C>A (n.*18C>A) n.2845C>A c.718C>A c.782C>A (p.Pro261His) | gnomAD v4 |
8 | g.38144256G>A | CA2686931569 | STAR | c.*17C>T (n.*17C>T) n.2844C>T c.717C>T c.781C>T (p.Pro261Ser) | gnomAD v4 |
8 | g.38144256G>C | CA2739983432 | STAR | c.*17C>G (n.*17C>G) n.2844C>G c.717C>G c.781C>G (p.Pro261Ala) | |
8 | g.38144256G= | CA1777409204 | STAR | c.*17C= (n.*17C=) n.2844C= c.717C= c.781C= (p.Pro261=) | |
8 | g.38144256G>T | CA1112876688 | STAR | c.*17C>A (n.*17C>A) n.2844C>A c.717C>A c.781C>A (p.Pro261Thr) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.38144257A>C | CA2739983435 | STAR | c.*16T>G (n.*16T>G) n.2843T>G c.716T>G c.780T>G (p.Val260=) | |
8 | g.38144257A>G | CA2739983434 | STAR | c.*16T>C (n.*16T>C) n.2843T>C c.716T>C c.780T>C (p.Val260=) | |
8 | g.38144257A>T | CA2739983433 | STAR | c.*16T>A (n.*16T>A) n.2843T>A c.716T>A c.780T>A (p.Val260=) | |
8 | g.38144261_38144278del | CA2686931572 | STAR | c.857_*16del (n.[c.857_*16del;Ter286SerextTer24]) n.2826_2843del c.699_716del c.763_780del (p.Glu255_Val260del) | gnomAD v4 |
8 | g.38144258A>C | CA2739983436 | STAR | c.*15T>G (n.*15T>G) n.2842T>G c.715T>G c.779T>G (p.Val260Gly) | |
8 | g.38144258A>G | CA2739983437 | STAR | c.*15T>C (n.*15T>C) n.2842T>C c.715T>C c.779T>C (p.Val260Ala) | |
8 | g.38144258A>T | CA2739983438 | STAR | c.*15T>A (n.*15T>A) n.2842T>A c.715T>A c.779T>A (p.Val260Asp) | |
8 | g.38144259C>A | CA2686931573 | STAR | c.*14G>T (n.*14G>T) n.2841G>T c.714G>T c.778G>T (p.Val260Phe) | gnomAD v4 |
8 | g.38144259C>T | CA2779765810 | STAR | c.*14G>A (n.*14G>A) n.2841G>A c.714G>A c.778G>A (p.Val260Ile) | |
8 | g.38144260A>C | CA2739983439 | STAR | c.*13T>G (n.*13T>G) n.2840T>G c.713T>G c.777T>G (p.Ala259=) | |
8 | g.38144260A>G | CA2686931574 | STAR | c.*13T>C (n.*13T>C) n.2840T>C c.713T>C c.777T>C (p.Ala259=) | gnomAD v4 |
8 | g.38144260A>T | CA2739983440 | STAR | c.*13T>A (n.*13T>A) n.2840T>A c.713T>A c.777T>A (p.Ala259=) | |
8 | g.38144261G>A | CA2686931575 | STAR | c.*12C>T (n.*12C>T) n.2839C>T c.712C>T c.776C>T (p.Ala259Val) | gnomAD v4 |
8 | g.38144261G>C | CA2739983441 | STAR | c.*12C>G (n.*12C>G) n.2839C>G c.712C>G c.776C>G (p.Ala259Gly) | |
8 | g.38144261G>T | CA2739983442 | STAR | c.*12C>A (n.*12C>A) n.2839C>A c.712C>A c.776C>A (p.Ala259Asp) | |
8 | g.38144262C>A | CA2686931576 | STAR | c.*11G>T (n.*11G>T) n.2838G>T c.711G>T c.775G>T (p.Ala259Ser) | gnomAD v4 |
8 | g.38144262C= | CA1777409208 | STAR | c.*11G= (n.*11G=) n.2838G= c.711G= c.775G= (p.Ala259=) | |
8 | g.38144262C>T | CA581109595 | STAR | c.*11G>A (n.*11G>A) n.2838G>A c.711G>A c.775G>A (p.Ala259Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38144263A= | CA1777409211 | STAR | c.*10T= (n.*10T=) n.2837T= c.710T= c.774T= (p.Pro258=) | |
8 | g.38144263A>C | CA2739983443 | STAR | c.*10T>G (n.*10T>G) n.2837T>G c.710T>G c.774T>G (p.Pro258=) | |
8 | g.38144263A>G | CA2739983444 | STAR | c.*10T>C (n.*10T>C) n.2837T>C c.710T>C c.774T>C (p.Pro258=) | |
8 | g.38144263A>T | CA175091003 | STAR | c.*10T>A (n.*10T>A) n.2837T>A c.710T>A c.774T>A (p.Pro258=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38144264G>A | CA2686931579 | STAR | c.*9C>T (n.*9C>T) n.2836C>T c.709C>T c.773C>T (p.Pro258Leu) | gnomAD v4 |
8 | g.38144264G>C | CA2739983445 | STAR | c.*9C>G (n.*9C>G) n.2836C>G c.709C>G c.773C>G (p.Pro258Arg) | |
8 | g.38144264G>T | CA2739983446 | STAR | c.*9C>A (n.*9C>A) n.2836C>A c.709C>A c.773C>A (p.Pro258His) | |
8 | g.38144265G>C | CA2739983447 | STAR | c.*8C>G (n.*8C>G) n.2835C>G c.708C>G c.772C>G (p.Pro258Ala) | |
8 | g.38144265G>T | CA2686931580 | STAR | c.*8C>A (n.*8C>A) n.2835C>A c.708C>A c.772C>A (p.Pro258Thr) | gnomAD v4 |
8 | g.38144266C>A | CA2686931583 | STAR | c.*7G>T (n.*7G>T) n.2834G>T c.707G>T c.771G>T (p.Gln257His) | gnomAD v4 |
8 | g.38144266C>G | CA2739983449 | STAR | c.*7G>C (n.*7G>C) n.2834G>C c.707G>C c.771G>C (p.Gln257His) | |
8 | g.38144266C>T | CA2739983448 | STAR | c.*7G>A (n.*7G>A) n.2834G>A c.707G>A c.771G>A (p.Gln257=) | |
8 | g.38144267T>A | CA2739983450 | STAR | c.*6A>T (n.*6A>T) n.2833A>T c.706A>T c.770A>T (p.Gln257Leu) | |
8 | g.38144267T>C | CA2739983451 | STAR | c.*6A>G (n.*6A>G) n.2833A>G c.706A>G c.770A>G (p.Gln257Arg) | |
8 | g.38144267T>G | CA2739983452 | STAR | c.*6A>C (n.*6A>C) n.2833A>C c.706A>C c.770A>C (p.Gln257Pro) | |
8 | g.38144268G>A | CA4715113 | STAR | c.*5C>T (n.*5C>T) n.2832C>T c.705C>T c.769C>T (p.Gln257Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144268G>C | CA851456099 | STAR | c.*5C>G (n.*5C>G) n.2832C>G c.705C>G c.769C>G (p.Gln257Glu) | dbSNP |
8 | g.38144268G= | CA1777409213 | STAR | c.*5C= (n.*5C=) n.2832C= c.705C= c.769C= (p.Gln257=) | |
8 | g.38144268G>T | CA2841816428 | STAR | c.*5C>A (n.*5C>A) n.2832C>A c.705C>A c.769C>A (p.Gln257Lys) | |
8 | g.38144269G>A | CA2739983453 | STAR | c.*4C>T (n.*4C>T) n.2831C>T c.704C>T c.768C>T (p.Asp256=) | |
8 | g.38144269G>C | CA2739983454 | STAR | c.*4C>G (n.*4C>G) n.2831C>G c.704C>G c.768C>G (p.Asp256Glu) | |
8 | g.38144269G>T | CA2579143931 | STAR | c.*4C>A (n.*4C>A) n.2831C>A c.704C>A c.768C>A (p.Asp256Glu) | |
8 | g.38144270T>A | CA2739983455 | STAR | c.*3A>T (n.*3A>T) n.2830A>T c.703A>T c.767A>T (p.Asp256Val) | |
8 | g.38144270T>C | CA2739983456 | STAR | c.*3A>G (n.*3A>G) n.2830A>G c.703A>G c.767A>G (p.Asp256Gly) | |
8 | g.38144270T>G | CA1777409217 | STAR | c.*3A>C (n.*3A>C) n.2830A>C c.703A>C c.767A>C (p.Asp256Ala) | dbSNP |
8 | g.38144270T= | CA1777409215 | STAR | c.*3A= (n.*3A=) n.2830A= c.703A= c.767A= (p.Asp256=) | |
8 | g.38144271C>A | CA2686931587 | STAR | c.*2G>T (n.*2G>T) n.2829G>T c.702G>T c.766G>T (p.Asp256Tyr) | gnomAD v4 |
8 | g.38144271C>G | CA2739983457 | STAR | c.*2G>C (n.*2G>C) n.2829G>C c.702G>C c.766G>C (p.Asp256His) | |
8 | g.38144272T>A | CA2739983460 | STAR | c.*1A>T (n.*1A>T) n.2828A>T c.701A>T c.765A>T (p.Glu255Asp) | |
8 | g.38144272T>C | CA2739983458 | STAR | c.*1A>G (n.*1A>G) n.2828A>G c.701A>G c.765A>G (p.Glu255=) | |
8 | g.38144272T>G | CA2739983459 | STAR | c.*1A>C (n.*1A>C) n.2828A>C c.701A>C c.765A>C (p.Glu255Asp) | |
8 | g.38144273del | CA2841816429 | STAR | c.*1del (n.*1del) n.2828del c.701del c.765del (p.Asp256ThrfsTer?) | |
8 | g.38144273T>A | CA370695451 | STAR | c.858A>T (p.Ter286Cys) n.2827A>T c.700A>T c.764A>T (p.Glu255Val) | |
8 | g.38144273T>C | CA370695452 | STAR | c.858A>G (p.Ter286Trp) n.2827A>G c.700A>G c.764A>G (p.Glu255Gly) | |
8 | g.38144273T>G | CA370695453 | STAR | c.858A>C (p.Ter286Cys) n.2827A>C c.700A>C c.764A>C (p.Glu255Ala) | gnomAD v4 |
8 | g.38144273_38144274insGG | CA2686931591 | STAR | c.857_858insCC (p.Ter286CysextTer?) n.2826_2827insCC c.699_700insCC c.763_764insCC (p.Glu255AlafsTer?) | gnomAD v4 |
8 | g.38144274C>A | CA370695455 | STAR | c.857G>T (p.Ter286Leu) n.2826G>T c.699G>T c.763G>T (p.Glu255Ter) | gnomAD v4 |
8 | g.38144274C= | CA1777409219 | STAR | c.857G= (p.Ter286=) n.2826G= c.699G= c.763G= (p.Glu255=) | |
8 | g.38144274C>G | CA370695458 | STAR | c.857G>C (p.Ter286Ser) n.2826G>C c.699G>C c.763G>C (p.Glu255Gln) | dbSNP gnomAD v2 |
8 | g.38144274C>T | CA460374906 | STAR | c.857G>A (p.Ter286=) n.2826G>A c.699G>A c.763G>A (p.Glu255Lys) | |
8 | g.38144274dup | CA2686931590 | STAR | c.857dup (p.Ter286TrpextTer?) n.2826dup c.699dup c.763dup (p.Glu255GlyfsTer30) | gnomAD v4 |
8 | g.38144275A>C | CA370695459 | STAR | c.856T>G (p.Ter286Gly) n.2825T>G c.698T>G c.762T>G (p.Val254=) | |
8 | g.38144275A>G | CA370695463 | STAR | c.856T>C (p.Ter286Arg) n.2825T>C c.698T>C c.762T>C (p.Val254=) | gnomAD v4 |
8 | g.38144275A>T | CA370695460 | STAR | c.856T>A (p.Ter286Arg) n.2825T>A c.698T>A c.762T>A (p.Val254=) | |
8 | g.38144276A= | CA1777409224 | STAR | c.855T= (p.Cys285=) n.2824T= c.697T= c.761T= (p.Val254=) | |
8 | g.38144276A>C | CA370695466 | STAR | c.855T>G (p.Cys285Trp) n.2824T>G c.697T>G c.761T>G (p.Val254Gly) | |
8 | g.38144276A>G | CA460374907 | STAR | c.855T>C (p.Cys285=) n.2824T>C c.697T>C c.761T>C (p.Val254Ala) | ClinVar dbSNP gnomAD v4 |
8 | g.38144276A>T | CA370695468 | STAR | c.855T>A (p.Cys285Ter) n.2824T>A c.697T>A c.761T>A (p.Val254Asp) | |
8 | g.38144277C>A | CA370695472 | STAR | c.854G>T (p.Cys285Phe) n.2823G>T c.696G>T c.760G>T (p.Val254Phe) | gnomAD v4 |
8 | g.38144277C>G | CA370695474 | STAR | c.854G>C (p.Cys285Ser) n.2823G>C c.696G>C c.760G>C (p.Val254Leu) | |
8 | g.38144277C>T | CA370695476 | STAR | c.854G>A (p.Cys285Tyr) n.2823G>A c.696G>A c.760G>A (p.Val254Ile) | |
8 | g.38144278A>C | CA370695480 | STAR | c.853T>G (p.Cys285Gly) n.2822T>G c.695T>G c.759T>G (p.Gly253=) | |
8 | g.38144278A>G | CA370695487 | STAR | c.853T>C (p.Cys285Arg) n.2822T>C c.695T>C c.759T>C (p.Gly253=) | |
8 | g.38144278A>T | CA370695488 | STAR | c.853T>A (p.Cys285Ser) n.2822T>A c.695T>A c.759T>A (p.Gly253=) | |
8 | g.38144279C>A | CA370695490 | STAR | c.852G>T (p.Arg284Ser) n.2821G>T c.694G>T c.758G>T (p.Gly253Val) | |
8 | g.38144279C>G | CA370695493 | STAR | c.852G>C (p.Arg284Ser) n.2821G>C c.694G>C c.758G>C (p.Gly253Ala) | |
8 | g.38144279C>T | CA460374908 | STAR | c.852G>A (p.Arg284=) n.2821G>A c.694G>A c.758G>A (p.Gly253Asp) | |
8 | g.38144280del | CA2686931596 | STAR | c.852del (p.Arg284SerfsTer?) n.2821del c.694del c.758del (p.Gly253ValfsTer?) | gnomAD v4 |
8 | g.38144280C>A | CA370695496 | STAR | c.851G>T (p.Arg284Met) n.2820G>T c.693G>T c.757G>T (p.Gly253Cys) | |
8 | g.38144280C= | CA1777409227 | STAR | c.851G= (p.Arg284=) n.2820G= c.693G= c.757G= (p.Gly253=) | |
8 | g.38144280C>G | CA370695498 | STAR | c.851G>C (p.Arg284Thr) n.2820G>C c.693G>C c.757G>C (p.Gly253Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144280C>T | CA370695501 | STAR | c.851G>A (p.Arg284Lys) n.2820G>A c.693G>A c.757G>A (p.Gly253Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144281T>A | CA370695502 | STAR | c.850A>T (p.Arg284Trp) n.2819A>T c.692A>T c.756A>T (p.Pro252=) | |
8 | g.38144281T>C | CA370695504 | STAR | c.850A>G (p.Arg284Gly) n.2819A>G c.692A>G c.756A>G (p.Pro252=) | dbSNP |
8 | g.38144281T>G | CA460374909 | STAR | c.850A>C (p.Arg284=) n.2819A>C c.692A>C c.756A>C (p.Pro252=) | |
8 | g.38144281T= | CA1777409230 | STAR | c.850A= (p.Arg284=) n.2819A= c.692A= c.756A= (p.Pro252=) | |
8 | g.38144282G>A | CA460374910 | STAR | c.849C>T (p.Ala283=) n.2818C>T c.691C>T c.755C>T (p.Pro252Leu) | |
8 | g.38144282G>C | CA460374912 | STAR | c.849C>G (p.Ala283=) n.2818C>G c.691C>G c.755C>G (p.Pro252Arg) | |
8 | g.38144282G= | CA1777409232 | STAR | c.849C= (p.Ala283=) n.2818C= c.691C= c.755C= (p.Pro252=) | |
8 | g.38144282G>T | CA460374911 | STAR | c.849C>A (p.Ala283=) n.2818C>A c.691C>A c.755C>A (p.Pro252Gln) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38144283G>A | CA4715114 | STAR | c.848C>T (p.Ala283Val) n.2817C>T c.690C>T c.754C>T (p.Pro252Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144283G>C | CA370695507 | STAR | c.848C>G (p.Ala283Gly) n.2817C>G c.690C>G c.754C>G (p.Pro252Ala) | |
8 | g.38144283G= | CA1777409235 | STAR | c.848C= (p.Ala283=) n.2817C= c.690C= c.754C= (p.Pro252=) | |
8 | g.38144283G>T | CA370695509 | STAR | c.848C>A (p.Ala283Asp) n.2817C>A c.690C>A c.754C>A (p.Pro252Thr) | gnomAD v4 |
8 | g.38144284C>A | CA370695512 | STAR | c.847G>T (p.Ala283Ser) n.2816G>T c.689G>T c.753G>T (p.Lys251Asn) | |
8 | g.38144284C= | CA1777409237 | STAR | c.847G= (p.Ala283=) n.2816G= c.689G= c.753G= (p.Lys251=) | |
8 | g.38144284C>G | CA370695513 | STAR | c.847G>C (p.Ala283Pro) n.2816G>C c.689G>C c.753G>C (p.Lys251Asn) | |
8 | g.38144284C>T | CA370695515 | STAR | c.847G>A (p.Ala283Thr) n.2816G>A c.689G>A c.753G>A (p.Lys251=) | dbSNP gnomAD v2 |
8 | g.38144285T>A | CA370695517 | STAR | c.846A>T (p.Glu282Asp) n.2815A>T c.688A>T c.752A>T (p.Lys251Met) | |
8 | g.38144285T>C | CA460374913 | STAR | c.846A>G (p.Glu282=) n.2815A>G c.688A>G c.752A>G (p.Lys251Arg) | |
8 | g.38144285T>G | CA370695519 | STAR | c.846A>C (p.Glu282Asp) n.2815A>C c.688A>C c.752A>C (p.Lys251Thr) | |
8 | g.38144286T>A | CA370695520 | STAR | c.845A>T (p.Glu282Val) n.2814A>T c.687A>T c.751A>T (p.Lys251Ter) | |
8 | g.38144286T>C | CA370695522 | STAR | c.845A>G (p.Glu282Gly) n.2814A>G c.687A>G c.751A>G (p.Lys251Glu) | |
8 | g.38144286T>G | CA370695524 | STAR | c.845A>C (p.Glu282Ala) n.2814A>C c.687A>C c.751A>C (p.Lys251Gln) | |
8 | g.38144287C>A | CA370695527 | STAR | c.844G>T (p.Glu282Ter) n.2813G>T c.686G>T c.750G>T (p.Leu250=) | |
8 | g.38144287C= | CA1777409239 | STAR | c.844G= (p.Glu282=) n.2813G= c.686G= c.750G= (p.Leu250=) | |
8 | g.38144287C>G | CA370695529 | STAR | c.844G>C (p.Glu282Gln) n.2813G>C c.686G>C c.750G>C (p.Leu250=) | |
8 | g.38144287C>T | CA370695525 | STAR | c.844G>A (p.Glu282Lys) n.2813G>A c.686G>A c.750G>A (p.Leu250=) | gnomAD v4 |
8 | g.38144287_38144288insG | CA1777409241 | STAR | c.843_844insC (p.Glu282ArgfsTer?) n.2812_2813insC c.685_686insC c.749_750insC (p.Lys251GlufsTer5) | dbSNP |
8 | g.38144288A= | CA1777409242 | STAR | c.843T= (p.Ser281=) n.2812T= c.685T= c.749T= (p.Leu250=) | |
8 | g.38144288A>C | CA460374914 | STAR | c.843T>G (p.Ser281=) n.2812T>G c.685T>G c.749T>G (p.Leu250Arg) | |
8 | g.38144288A>G | CA4715115 | STAR | c.843T>C (p.Ser281=) n.2812T>C c.685T>C c.749T>C (p.Leu250Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144288A>T | CA460374915 | STAR | c.843T>A (p.Ser281=) n.2812T>A c.685T>A c.749T>A (p.Leu250Gln) | gnomAD v4 |
8 | g.38144289G>A | CA4715116 | STAR | c.842C>T (p.Ser281Phe) n.2811C>T c.684C>T c.748C>T (p.Leu250=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144289G>C | CA370695530 | STAR | c.842C>G (p.Ser281Cys) n.2811C>G c.684C>G c.748C>G (p.Leu250Val) | |
8 | g.38144289G= | CA1777409245 | STAR | c.842C= (p.Ser281=) n.2811C= c.684C= c.748C= (p.Leu250=) | |
8 | g.38144289G>T | CA370695532 | STAR | c.842C>A (p.Ser281Tyr) n.2811C>A c.684C>A c.748C>A (p.Leu250Met) | |
8 | g.38144290A= | CA1777409247 | STAR | c.841T= (p.Ser281=) n.2810T= c.683T= c.747T= (p.Pro249=) | |
8 | g.38144290A>C | CA370695534 | STAR | c.841T>G (p.Ser281Ala) n.2810T>G c.683T>G c.747T>G (p.Pro249=) | |
8 | g.38144290A>G | CA370695540 | STAR | c.841T>C (p.Ser281Pro) n.2810T>C c.683T>C c.747T>C (p.Pro249=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.38144290A>T | CA4715117 | STAR | c.841T>A (p.Ser281Thr) n.2810T>A c.683T>A c.747T>A (p.Pro249=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144291G>A | CA460374916 | STAR | c.840C>T (p.Ala280=) n.2809C>T c.682C>T c.746C>T (p.Pro249Leu) | |
8 | g.38144291G>C | CA460374917 | STAR | c.840C>G (p.Ala280=) n.2809C>G c.682C>G c.746C>G (p.Pro249Arg) | |
8 | g.38144291G>T | CA460374918 | STAR | c.840C>A (p.Ala280=) n.2809C>A c.682C>A c.746C>A (p.Pro249His) | gnomAD v4 |
8 | g.38144292G>A | CA370695546 | STAR | c.839C>T (p.Ala280Val) n.2808C>T c.681C>T c.745C>T (p.Pro249Ser) | |
8 | g.38144292G>C | CA370695550 | STAR | c.839C>G (p.Ala280Gly) n.2808C>G c.681C>G c.745C>G (p.Pro249Ala) | |
8 | g.38144292G>T | CA370695552 | STAR | c.839C>A (p.Ala280Asp) n.2808C>A c.681C>A c.745C>A (p.Pro249Thr) | |
8 | g.38144293C>A | CA370695556 | STAR | c.838G>T (p.Ala280Ser) n.2807G>T c.680G>T c.744G>T (p.Leu248=) | dbSNP |
8 | g.38144293C= | CA1777409250 | STAR | c.838G= (p.Ala280=) n.2807G= c.680G= c.744G= (p.Leu248=) | |
8 | g.38144293C>G | CA370695558 | STAR | c.838G>C (p.Ala280Pro) n.2807G>C c.680G>C c.744G>C (p.Leu248=) | |
8 | g.38144293C>T | CA370695563 | STAR | c.838G>A (p.Ala280Thr) n.2807G>A c.680G>A c.744G>A (p.Leu248=) | gnomAD v4 |
8 | g.38144294A>C | CA460374919 | STAR | c.837T>G (p.Pro279=) n.2806T>G c.679T>G c.743T>G (p.Leu248Arg) | |
8 | g.38144294A>G | CA460374920 | STAR | c.837T>C (p.Pro279=) n.2806T>C c.679T>C c.743T>C (p.Leu248Pro) | ClinVar |
8 | g.38144294A>T | CA460374921 | STAR | c.837T>A (p.Pro279=) n.2806T>A c.679T>A c.743T>A (p.Leu248Gln) | |
8 | g.38144295G>A | CA370695569 | STAR | c.836C>T (p.Pro279Leu) n.2805C>T c.678C>T c.742C>T (p.Leu248=) | gnomAD v4 |
8 | g.38144295G>C | CA4715118 | STAR | c.836C>G (p.Pro279Arg) n.2805C>G c.678C>G c.742C>G (p.Leu248Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144295G= | CA1777409252 | STAR | c.836C= (p.Pro279=) n.2805C= c.678C= c.742C= (p.Leu248=) | |
8 | g.38144295G>T | CA370695566 | STAR | c.836C>A (p.Pro279His) n.2805C>A c.678C>A c.742C>A (p.Leu248Met) | gnomAD v4 |
8 | g.38144297dup | CA2841816430 | STAR | c.836dup (p.Ala280CysfsTer3) n.2805dup c.678dup c.742dup (p.Leu248ProfsTer8) | |
8 | g.38144296G>A | CA370695572 | STAR | c.835C>T (p.Pro279Ser) n.2804C>T c.677C>T c.741C>T (p.Thr247=) | gnomAD v4 |
8 | g.38144296G>C | CA370695575 | STAR | c.835C>G (p.Pro279Ala) n.2804C>G c.677C>G c.741C>G (p.Thr247=) | |
8 | g.38144296G= | CA1777409254 | STAR | c.835C= (p.Pro279=) n.2804C= c.677C= c.741C= (p.Thr247=) | |
8 | g.38144296G>T | CA370695577 | STAR | c.835C>A (p.Pro279Thr) n.2804C>A c.677C>A c.741C>A (p.Thr247=) | dbSNP |
8 | g.38144297G>A | CA460374922 | STAR | c.834C>T (p.His278=) n.2803C>T c.676C>T c.740C>T (p.Thr247Ile) | |
8 | g.38144297G>C | CA370695583 | STAR | c.834C>G (p.His278Gln) n.2803C>G c.676C>G c.740C>G (p.Thr247Ser) | |
8 | g.38144297G>T | CA370695586 | STAR | c.834C>A (p.His278Gln) n.2803C>A c.676C>A c.740C>A (p.Thr247Asn) | gnomAD v4 |
8 | g.38144298T>A | CA370695595 | STAR | c.833A>T (p.His278Leu) n.2802A>T c.675A>T c.739A>T (p.Thr247Ser) | |
8 | g.38144298T>C | CA370695597 | STAR | c.833A>G (p.His278Arg) n.2802A>G c.675A>G c.739A>G (p.Thr247Ala) | |
8 | g.38144298T>G | CA4715119 | STAR | c.833A>C (p.His278Pro) n.2802A>C c.675A>C c.739A>C (p.Thr247Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.38144298T= | CA1777409256 | STAR | c.833A= (p.His278=) n.2802A= c.675A= c.739A= (p.Thr247=) | |
8 | g.38144299G>A | CA370695600 | STAR | c.832C>T (p.His278Tyr) n.2801C>T c.674C>T c.738C>T (p.Pro246=) | |
8 | g.38144299G>C | CA370695604 | STAR | c.832C>G (p.His278Asp) n.2801C>G c.674C>G c.738C>G (p.Pro246=) | |
8 | g.38144299G>T | CA370695606 | STAR | c.832C>A (p.His278Asn) n.2801C>A c.674C>A c.738C>A (p.Pro246=) | gnomAD v4 |
8 | g.38144301del | CA2779765813 | STAR | c.832del (p.His278ThrfsTer?) n.2801del c.674del c.738del (p.Thr247ProfsTer4) | |
8 | g.38144300G>A | CA460374923 | STAR | c.831C>T (p.Ser277=) n.2800C>T c.673C>T c.737C>T (p.Pro246Leu) | COSMIC |
8 | g.38144300G>C | CA460374924 | STAR | c.831C>G (p.Ser277=) n.2800C>G c.673C>G c.737C>G (p.Pro246Arg) | |
8 | g.38144300G>T | CA460374925 | STAR | c.831C>A (p.Ser277=) n.2800C>A c.673C>A c.737C>A (p.Pro246His) | |
8 | g.38144301G>A | CA370695609 | STAR | c.830C>T (p.Ser277Phe) n.2799C>T c.672C>T c.736C>T (p.Pro246Ser) | |
8 | g.38144301G>C | CA4715120 | STAR | c.830C>G (p.Ser277Cys) n.2799C>G c.672C>G c.736C>G (p.Pro246Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.38144301G= | CA1777409260 | STAR | c.830C= (p.Ser277=) n.2799C= c.672C= c.736C= (p.Pro246=) | |
8 | g.38144301G>T | CA370695614 | STAR | c.830C>A (p.Ser277Tyr) n.2799C>A c.672C>A c.736C>A (p.Pro246Thr) | gnomAD v4 |