Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122284630_122285173delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAACA1397872785CASRc.2445_2988delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser815=)
c.2706_3249delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser902=)
c.2676_3219delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser892=)
c.2193_2736delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser731=)
c.2088_2631delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser696=)
3g.122284636_122285178delCA281596CASRc.2451_2993del (p.Ser818_Val998del)
c.2712_3254del (p.Ser905_Val1085del)
c.2682_3224del (p.Ser895_Val1075del)
c.2199_2741del (p.Ser734_Val914del)
c.2094_2636del (p.Ser699_Val879del)
 ClinVar dbSNP
3g.122284842_122285665delCA2740094578CASRc.2657_*474del (n.[c.2657_*474del;Lys886ThrfsTer5])
c.2918_*474del (n.[c.2918_*474del;Lys973ThrfsTer5])
c.2888_*474del (n.[c.2888_*474del;Lys963ThrfsTer5])
c.2405_*474del (n.[c.2405_*474del;Lys802ThrfsTer5])
c.2300_*474del (n.[c.2300_*474del;Lys767ThrfsTer5])
 ClinVar
3g.122284899_122284973delCA2667224801CASRc.2714_2788del (p.Pro905_Thr929del)
c.2975_3049del (p.Pro992_Thr1016del)
c.2945_3019del (p.Pro982_Thr1006del)
c.2462_2536del (p.Pro821_Thr845del)
c.2357_2431del (p.Pro786_Thr810del)
 gnomAD v4
3g.122284899C>ACA354161116CASRc.2714C>A (p.Pro905His)
c.2975C>A (p.Pro992His)
c.2945C>A (p.Pro982His)
c.2462C>A (p.Pro821His)
c.2357C>A (p.Pro786His)
3g.122284899C>GCA354161117CASRc.2714C>G (p.Pro905Arg)
c.2975C>G (p.Pro992Arg)
c.2945C>G (p.Pro982Arg)
c.2462C>G (p.Pro821Arg)
c.2357C>G (p.Pro786Arg)
 ClinVar
3g.122284899C>TCA354161115CASRc.2714C>T (p.Pro905Leu)
c.2975C>T (p.Pro992Leu)
c.2945C>T (p.Pro982Leu)
c.2462C>T (p.Pro821Leu)
c.2357C>T (p.Pro786Leu)
3g.122284899_122284900delinsCTCA1397873045CASRc.2714_2715delinsCT (p.Pro905=)
c.2975_2976delinsCT (p.Pro992=)
c.2945_2946delinsCT (p.Pro982=)
c.2462_2463delinsCT (p.Pro821=)
c.2357_2358delinsCT (p.Pro786=)
3g.122284900delCA2569895CASRc.2715del (p.Gln906ArgfsTer25)
c.2976del (p.Gln993ArgfsTer25)
c.2946del (p.Gln983ArgfsTer25)
c.2463del (p.Gln822ArgfsTer25)
c.2358del (p.Gln787ArgfsTer25)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284900T>ACA435425759CASRc.2715T>A (p.Pro905=)
c.2976T>A (p.Pro992=)
c.2946T>A (p.Pro982=)
c.2463T>A (p.Pro821=)
c.2358T>A (p.Pro786=)
3g.122284900T>CCA435425758CASRc.2715T>C (p.Pro905=)
c.2976T>C (p.Pro992=)
c.2946T>C (p.Pro982=)
c.2463T>C (p.Pro821=)
c.2358T>C (p.Pro786=)
3g.122284900T>GCA435425757CASRc.2715T>G (p.Pro905=)
c.2976T>G (p.Pro992=)
c.2946T>G (p.Pro982=)
c.2463T>G (p.Pro821=)
c.2358T>G (p.Pro786=)
 ClinVar
3g.122284901C>ACA354161118CASRc.2716C>A (p.Gln906Lys)
c.2977C>A (p.Gln993Lys)
c.2947C>A (p.Gln983Lys)
c.2464C>A (p.Gln822Lys)
c.2359C>A (p.Gln787Lys)
3g.122284901C>GCA354161120CASRc.2716C>G (p.Gln906Glu)
c.2977C>G (p.Gln993Glu)
c.2947C>G (p.Gln983Glu)
c.2464C>G (p.Gln822Glu)
c.2359C>G (p.Gln787Glu)
 COSMIC
3g.122284901C>TCA354161119CASRc.2716C>T (p.Gln906Ter)
c.2977C>T (p.Gln993Ter)
c.2947C>T (p.Gln983Ter)
c.2464C>T (p.Gln822Ter)
c.2359C>T (p.Gln787Ter)
3g.122284901_122284904delinsCAGACA1397873047CASRc.2716_2719delinsCAGA (p.Gln906=)
c.2977_2980delinsCAGA (p.Gln993=)
c.2947_2950delinsCAGA (p.Gln983=)
c.2464_2467delinsCAGA (p.Gln822=)
c.2359_2362delinsCAGA (p.Gln787=)
3g.122284902A=CA1397873049CASRc.2717A= (p.Gln906=)
c.2978A= (p.Gln993=)
c.2948A= (p.Gln983=)
c.2465A= (p.Gln822=)
c.2360A= (p.Gln787=)
3g.122284902A>CCA354161121CASRc.2717A>C (p.Gln906Pro)
c.2978A>C (p.Gln993Pro)
c.2948A>C (p.Gln983Pro)
c.2465A>C (p.Gln822Pro)
c.2360A>C (p.Gln787Pro)
3g.122284902A>GCA10582123CASRc.2717A>G (p.Gln906Arg)
c.2978A>G (p.Gln993Arg)
c.2948A>G (p.Gln983Arg)
c.2465A>G (p.Gln822Arg)
c.2360A>G (p.Gln787Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
3g.122284902A>TCA354161122CASRc.2717A>T (p.Gln906Leu)
c.2978A>T (p.Gln993Leu)
c.2948A>T (p.Gln983Leu)
c.2465A>T (p.Gln822Leu)
c.2360A>T (p.Gln787Leu)
3g.122284906_122284908delCA2569896CASRc.2721_2723del (p.Lys907del)
c.2982_2984del (p.Lys994del)
c.2952_2954del (p.Lys984del)
c.2469_2471del (p.Lys823del)
c.2364_2366del (p.Lys788del)
 ClinVar dbSNP ExAC gnomAD v2
3g.122284903G>ACA435425760CASRc.2718G>A (p.Gln906=)
c.2979G>A (p.Gln993=)
c.2949G>A (p.Gln983=)
c.2466G>A (p.Gln822=)
c.2361G>A (p.Gln787=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122284903G>CCA354161124CASRc.2718G>C (p.Gln906His)
c.2979G>C (p.Gln993His)
c.2949G>C (p.Gln983His)
c.2466G>C (p.Gln822His)
c.2361G>C (p.Gln787His)
3g.122284903G=CA1397873051CASRc.2718G= (p.Gln906=)
c.2979G= (p.Gln993=)
c.2949G= (p.Gln983=)
c.2466G= (p.Gln822=)
c.2361G= (p.Gln787=)
3g.122284903G>TCA354161123CASRc.2718G>T (p.Gln906His)
c.2979G>T (p.Gln993His)
c.2949G>T (p.Gln983His)
c.2466G>T (p.Gln822His)
c.2361G>T (p.Gln787His)
3g.122284904A>CCA354161127CASRc.2719A>C (p.Lys907Gln)
c.2980A>C (p.Lys994Gln)
c.2950A>C (p.Lys984Gln)
c.2467A>C (p.Lys823Gln)
c.2362A>C (p.Lys788Gln)
3g.122284904A>GCA354161125CASRc.2719A>G (p.Lys907Glu)
c.2980A>G (p.Lys994Glu)
c.2950A>G (p.Lys984Glu)
c.2467A>G (p.Lys823Glu)
c.2362A>G (p.Lys788Glu)
3g.122284904A>TCA354161126CASRc.2719A>T (p.Lys907Ter)
c.2980A>T (p.Lys994Ter)
c.2950A>T (p.Lys984Ter)
c.2467A>T (p.Lys823Ter)
c.2362A>T (p.Lys788Ter)
3g.122284905A=CA1397873052CASRc.2720A= (p.Lys907=)
c.2981A= (p.Lys994=)
c.2951A= (p.Lys984=)
c.2468A= (p.Lys823=)
c.2363A= (p.Lys788=)
3g.122284905A>CCA354161128CASRc.2720A>C (p.Lys907Thr)
c.2981A>C (p.Lys994Thr)
c.2951A>C (p.Lys984Thr)
c.2468A>C (p.Lys823Thr)
c.2363A>C (p.Lys788Thr)
3g.122284905A>GCA354161129CASRc.2720A>G (p.Lys907Arg)
c.2981A>G (p.Lys994Arg)
c.2951A>G (p.Lys984Arg)
c.2468A>G (p.Lys823Arg)
c.2363A>G (p.Lys788Arg)
 ClinVar dbSNP
3g.122284905A>TCA354161130CASRc.2720A>T (p.Lys907Met)
c.2981A>T (p.Lys994Met)
c.2951A>T (p.Lys984Met)
c.2468A>T (p.Lys823Met)
c.2363A>T (p.Lys788Met)
 ClinVar
3g.122284906G>ACA435425763CASRc.2721G>A (p.Lys907=)
c.2982G>A (p.Lys994=)
c.2952G>A (p.Lys984=)
c.2469G>A (p.Lys823=)
c.2364G>A (p.Lys788=)
 ClinVar dbSNP
3g.122284906G>CCA354161131CASRc.2721G>C (p.Lys907Asn)
c.2982G>C (p.Lys994Asn)
c.2952G>C (p.Lys984Asn)
c.2469G>C (p.Lys823Asn)
c.2364G>C (p.Lys788Asn)
 ClinVar
3g.122284906G>TCA354161132CASRc.2721G>T (p.Lys907Asn)
c.2982G>T (p.Lys994Asn)
c.2952G>T (p.Lys984Asn)
c.2469G>T (p.Lys823Asn)
c.2364G>T (p.Lys788Asn)
 ClinVar
3g.122284907A>CCA354161133CASRc.2722A>C (p.Asn908His)
c.2983A>C (p.Asn995His)
c.2953A>C (p.Asn985His)
c.2470A>C (p.Asn824His)
c.2365A>C (p.Asn789His)
3g.122284907A>GCA354161134CASRc.2722A>G (p.Asn908Asp)
c.2983A>G (p.Asn995Asp)
c.2953A>G (p.Asn985Asp)
c.2470A>G (p.Asn824Asp)
c.2365A>G (p.Asn789Asp)
3g.122284907A>TCA354161135CASRc.2722A>T (p.Asn908Tyr)
c.2983A>T (p.Asn995Tyr)
c.2953A>T (p.Asn985Tyr)
c.2470A>T (p.Asn824Tyr)
c.2365A>T (p.Asn789Tyr)
3g.122284908A=CA1397873054CASRc.2723A= (p.Asn908=)
c.2984A= (p.Asn995=)
c.2954A= (p.Asn985=)
c.2471A= (p.Asn824=)
c.2366A= (p.Asn789=)
3g.122284908A>CCA2569897CASRc.2723A>C (p.Asn908Thr)
c.2984A>C (p.Asn995Thr)
c.2954A>C (p.Asn985Thr)
c.2471A>C (p.Asn824Thr)
c.2366A>C (p.Asn789Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284908A>GCA354161136CASRc.2723A>G (p.Asn908Ser)
c.2984A>G (p.Asn995Ser)
c.2954A>G (p.Asn985Ser)
c.2471A>G (p.Asn824Ser)
c.2366A>G (p.Asn789Ser)
3g.122284908A>TCA354161137CASRc.2723A>T (p.Asn908Ile)
c.2984A>T (p.Asn995Ile)
c.2954A>T (p.Asn985Ile)
c.2471A>T (p.Asn824Ile)
c.2366A>T (p.Asn789Ile)
3g.122284909C>ACA354161139CASRc.2724C>A (p.Asn908Lys)
c.2985C>A (p.Asn995Lys)
c.2955C>A (p.Asn985Lys)
c.2472C>A (p.Asn824Lys)
c.2367C>A (p.Asn789Lys)
3g.122284909C=CA1397873056CASRc.2724C= (p.Asn908=)
c.2985C= (p.Asn995=)
c.2955C= (p.Asn985=)
c.2472C= (p.Asn824=)
c.2367C= (p.Asn789=)
3g.122284909C>GCA354161138CASRc.2724C>G (p.Asn908Lys)
c.2985C>G (p.Asn995Lys)
c.2955C>G (p.Asn985Lys)
c.2472C>G (p.Asn824Lys)
c.2367C>G (p.Asn789Lys)
 ClinVar gnomAD v4
3g.122284909C>TCA2569898CASRc.2724C>T (p.Asn908=)
c.2985C>T (p.Asn995=)
c.2955C>T (p.Asn985=)
c.2472C>T (p.Asn824=)
c.2367C>T (p.Asn789=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284909_122284910delinsTTCA2499216416CASRc.2724_2725delinsTT (p.Ala909Ser)
c.2985_2986delinsTT (p.Ala996Ser)
c.2955_2956delinsTT (p.Ala986Ser)
c.2472_2473delinsTT (p.Ala825Ser)
c.2367_2368delinsTT (p.Ala790Ser)
 ClinVar dbSNP
3g.122284910G>ACA354161140CASRc.2725G>A (p.Ala909Thr)
c.2986G>A (p.Ala996Thr)
c.2956G>A (p.Ala986Thr)
c.2473G>A (p.Ala825Thr)
c.2368G>A (p.Ala790Thr)
 ClinVar dbSNP gnomAD v4
3g.122284910G>CCA354161141CASRc.2725G>C (p.Ala909Pro)
c.2986G>C (p.Ala996Pro)
c.2956G>C (p.Ala986Pro)
c.2473G>C (p.Ala825Pro)
c.2368G>C (p.Ala790Pro)
3g.122284910G=CA1397873060CASRc.2725G= (p.Ala909=)
c.2986G= (p.Ala996=)
c.2956G= (p.Ala986=)
c.2473G= (p.Ala825=)
c.2368G= (p.Ala790=)
3g.122284910G>TCA119531CASRc.2725G>T (p.Ala909Ser)
c.2986G>T (p.Ala996Ser)
c.2956G>T (p.Ala986Ser)
c.2473G>T (p.Ala825Ser)
c.2368G>T (p.Ala790Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284911C>ACA354161142CASRc.2726C>A (p.Ala909Asp)
c.2987C>A (p.Ala996Asp)
c.2957C>A (p.Ala986Asp)
c.2474C>A (p.Ala825Asp)
c.2369C>A (p.Ala790Asp)
 ClinVar dbSNP
3g.122284911C=CA1397873062CASRc.2726C= (p.Ala909=)
c.2987C= (p.Ala996=)
c.2957C= (p.Ala986=)
c.2474C= (p.Ala825=)
c.2369C= (p.Ala790=)
3g.122284911C>GCA354161143CASRc.2726C>G (p.Ala909Gly)
c.2987C>G (p.Ala996Gly)
c.2957C>G (p.Ala986Gly)
c.2474C>G (p.Ala825Gly)
c.2369C>G (p.Ala790Gly)
3g.122284911C>TCA354161144CASRc.2726C>T (p.Ala909Val)
c.2987C>T (p.Ala996Val)
c.2957C>T (p.Ala986Val)
c.2474C>T (p.Ala825Val)
c.2369C>T (p.Ala790Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122284912C>ACA435425769CASRc.2727C>A (p.Ala909=)
c.2988C>A (p.Ala996=)
c.2958C>A (p.Ala986=)
c.2475C>A (p.Ala825=)
c.2370C>A (p.Ala790=)
3g.122284912C>GCA435425770CASRc.2727C>G (p.Ala909=)
c.2988C>G (p.Ala996=)
c.2958C>G (p.Ala986=)
c.2475C>G (p.Ala825=)
c.2370C>G (p.Ala790=)
3g.122284912C>TCA435425771CASRc.2727C>T (p.Ala909=)
c.2988C>T (p.Ala996=)
c.2958C>T (p.Ala986=)
c.2475C>T (p.Ala825=)
c.2370C>T (p.Ala790=)
3g.122284913A>CCA354161145CASRc.2728A>C (p.Met910Leu)
c.2989A>C (p.Met997Leu)
c.2959A>C (p.Met987Leu)
c.2476A>C (p.Met826Leu)
c.2371A>C (p.Met791Leu)
3g.122284913A>GCA354161146CASRc.2728A>G (p.Met910Val)
c.2989A>G (p.Met997Val)
c.2959A>G (p.Met987Val)
c.2476A>G (p.Met826Val)
c.2371A>G (p.Met791Val)
 ClinVar dbSNP gnomAD v4
3g.122284913A>TCA354161147CASRc.2728A>T (p.Met910Leu)
c.2989A>T (p.Met997Leu)
c.2959A>T (p.Met987Leu)
c.2476A>T (p.Met826Leu)
c.2371A>T (p.Met791Leu)
3g.122284914T>ACA354161148CASRc.2729T>A (p.Met910Lys)
c.2990T>A (p.Met997Lys)
c.2960T>A (p.Met987Lys)
c.2477T>A (p.Met826Lys)
c.2372T>A (p.Met791Lys)
3g.122284914T>CCA354161149CASRc.2729T>C (p.Met910Thr)
c.2990T>C (p.Met997Thr)
c.2960T>C (p.Met987Thr)
c.2477T>C (p.Met826Thr)
c.2372T>C (p.Met791Thr)
3g.122284914T>GCA354161150CASRc.2729T>G (p.Met910Arg)
c.2990T>G (p.Met997Arg)
c.2960T>G (p.Met987Arg)
c.2477T>G (p.Met826Arg)
c.2372T>G (p.Met791Arg)
 ClinVar dbSNP gnomAD v4
3g.122284914T=CA1397873063CASRc.2729T= (p.Met910=)
c.2990T= (p.Met997=)
c.2960T= (p.Met987=)
c.2477T= (p.Met826=)
c.2372T= (p.Met791=)
3g.122284915G>ACA354161151CASRc.2730G>A (p.Met910Ile)
c.2991G>A (p.Met997Ile)
c.2961G>A (p.Met987Ile)
c.2478G>A (p.Met826Ile)
c.2373G>A (p.Met791Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122284915G>CCA354161153CASRc.2730G>C (p.Met910Ile)
c.2991G>C (p.Met997Ile)
c.2961G>C (p.Met987Ile)
c.2478G>C (p.Met826Ile)
c.2373G>C (p.Met791Ile)
3g.122284915G=CA1397873065CASRc.2730G= (p.Met910=)
c.2991G= (p.Met997=)
c.2961G= (p.Met987=)
c.2478G= (p.Met826=)
c.2373G= (p.Met791=)
3g.122284915G>TCA354161152CASRc.2730G>T (p.Met910Ile)
c.2991G>T (p.Met997Ile)
c.2961G>T (p.Met987Ile)
c.2478G>T (p.Met826Ile)
c.2373G>T (p.Met791Ile)
3g.122284916G>ACA82749374CASRc.2731G>A (p.Ala911Thr)
c.2992G>A (p.Ala998Thr)
c.2962G>A (p.Ala988Thr)
c.2479G>A (p.Ala827Thr)
c.2374G>A (p.Ala792Thr)
 dbSNP gnomAD v3 gnomAD v4
3g.122284916G>CCA354161154CASRc.2731G>C (p.Ala911Pro)
c.2992G>C (p.Ala998Pro)
c.2962G>C (p.Ala988Pro)
c.2479G>C (p.Ala827Pro)
c.2374G>C (p.Ala792Pro)
3g.122284916G=CA1397873067CASRc.2731G= (p.Ala911=)
c.2992G= (p.Ala998=)
c.2962G= (p.Ala988=)
c.2479G= (p.Ala827=)
c.2374G= (p.Ala792=)
3g.122284916G>TCA354161155CASRc.2731G>T (p.Ala911Ser)
c.2992G>T (p.Ala998Ser)
c.2962G>T (p.Ala988Ser)
c.2479G>T (p.Ala827Ser)
c.2374G>T (p.Ala792Ser)
3g.122284917C>ACA354161156CASRc.2732C>A (p.Ala911Asp)
c.2993C>A (p.Ala998Asp)
c.2963C>A (p.Ala988Asp)
c.2480C>A (p.Ala827Asp)
c.2375C>A (p.Ala792Asp)
3g.122284917C=CA1397873068CASRc.2732C= (p.Ala911=)
c.2993C= (p.Ala998=)
c.2963C= (p.Ala988=)
c.2480C= (p.Ala827=)
c.2375C= (p.Ala792=)
3g.122284917C>GCA354161157CASRc.2732C>G (p.Ala911Gly)
c.2993C>G (p.Ala998Gly)
c.2963C>G (p.Ala988Gly)
c.2480C>G (p.Ala827Gly)
c.2375C>G (p.Ala792Gly)
3g.122284917C>TCA2569899CASRc.2732C>T (p.Ala911Val)
c.2993C>T (p.Ala998Val)
c.2963C>T (p.Ala988Val)
c.2480C>T (p.Ala827Val)
c.2375C>T (p.Ala792Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284918C>ACA435425776CASRc.2733C>A (p.Ala911=)
c.2994C>A (p.Ala998=)
c.2964C>A (p.Ala988=)
c.2481C>A (p.Ala827=)
c.2376C>A (p.Ala792=)
3g.122284918C=CA1397873070CASRc.2733C= (p.Ala911=)
c.2994C= (p.Ala998=)
c.2964C= (p.Ala988=)
c.2481C= (p.Ala827=)
c.2376C= (p.Ala792=)
3g.122284918C>GCA82749380CASRc.2733C>G (p.Ala911=)
c.2994C>G (p.Ala998=)
c.2964C>G (p.Ala988=)
c.2481C>G (p.Ala827=)
c.2376C>G (p.Ala792=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122284918C>TCA435425777CASRc.2733C>T (p.Ala911=)
c.2994C>T (p.Ala998=)
c.2964C>T (p.Ala988=)
c.2481C>T (p.Ala827=)
c.2376C>T (p.Ala792=)
3g.122284919C>ACA354161158CASRc.2734C>A (p.His912Asn)
c.2995C>A (p.His999Asn)
c.2965C>A (p.His989Asn)
c.2482C>A (p.His828Asn)
c.2377C>A (p.His793Asn)
 dbSNP gnomAD v4
3g.122284919C=CA1397873072CASRc.2734C= (p.His912=)
c.2995C= (p.His999=)
c.2965C= (p.His989=)
c.2482C= (p.His828=)
c.2377C= (p.His793=)
3g.122284919C>GCA354161159CASRc.2734C>G (p.His912Asp)
c.2995C>G (p.His999Asp)
c.2965C>G (p.His989Asp)
c.2482C>G (p.His828Asp)
c.2377C>G (p.His793Asp)
3g.122284919C>TCA354161160CASRc.2734C>T (p.His912Tyr)
c.2995C>T (p.His999Tyr)
c.2965C>T (p.His989Tyr)
c.2482C>T (p.His828Tyr)
c.2377C>T (p.His793Tyr)
 ClinVar dbSNP gnomAD v4
3g.122284920A=CA1397873073CASRc.2735A= (p.His912=)
c.2996A= (p.His999=)
c.2966A= (p.His989=)
c.2483A= (p.His828=)
c.2378A= (p.His793=)
3g.122284920A>CCA354161161CASRc.2735A>C (p.His912Pro)
c.2996A>C (p.His999Pro)
c.2966A>C (p.His989Pro)
c.2483A>C (p.His828Pro)
c.2378A>C (p.His793Pro)
3g.122284920A>GCA354161162CASRc.2735A>G (p.His912Arg)
c.2996A>G (p.His999Arg)
c.2966A>G (p.His989Arg)
c.2483A>G (p.His828Arg)
c.2378A>G (p.His793Arg)
 dbSNP gnomAD v4
3g.122284920A>TCA354161163CASRc.2735A>T (p.His912Leu)
c.2996A>T (p.His999Leu)
c.2966A>T (p.His989Leu)
c.2483A>T (p.His828Leu)
c.2378A>T (p.His793Leu)
3g.122284921C>ACA354161164CASRc.2736C>A (p.His912Gln)
c.2997C>A (p.His999Gln)
c.2967C>A (p.His989Gln)
c.2484C>A (p.His828Gln)
c.2379C>A (p.His793Gln)
3g.122284921C>GCA354161165CASRc.2736C>G (p.His912Gln)
c.2997C>G (p.His999Gln)
c.2967C>G (p.His989Gln)
c.2484C>G (p.His828Gln)
c.2379C>G (p.His793Gln)
3g.122284921C>TCA435425779CASRc.2736C>T (p.His912=)
c.2997C>T (p.His999=)
c.2967C>T (p.His989=)
c.2484C>T (p.His828=)
c.2379C>T (p.His793=)
 gnomAD v4
3g.122284922A=CA1397873076CASRc.2737A= (p.Arg913=)
c.2998A= (p.Arg1000=)
c.2968A= (p.Arg990=)
c.2485A= (p.Arg829=)
c.2380A= (p.Arg794=)
3g.122284922A>CCA435425780CASRc.2737A>C (p.Arg913=)
c.2998A>C (p.Arg1000=)
c.2968A>C (p.Arg990=)
c.2485A>C (p.Arg829=)
c.2380A>C (p.Arg794=)
3g.122284922A>GCA203219CASRc.2737A>G (p.Arg913Gly)
c.2998A>G (p.Arg1000Gly)
c.2968A>G (p.Arg990Gly)
c.2485A>G (p.Arg829Gly)
c.2380A>G (p.Arg794Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284922A>TCA354161166CASRc.2737A>T (p.Arg913Trp)
c.2998A>T (p.Arg1000Trp)
c.2968A>T (p.Arg990Trp)
c.2485A>T (p.Arg829Trp)
c.2380A>T (p.Arg794Trp)
3g.122284923G>ACA354161167CASRc.2738G>A (p.Arg913Lys)
c.2999G>A (p.Arg1000Lys)
c.2969G>A (p.Arg990Lys)
c.2486G>A (p.Arg829Lys)
c.2381G>A (p.Arg794Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284923G>CCA354161168CASRc.2738G>C (p.Arg913Thr)
c.2999G>C (p.Arg1000Thr)
c.2969G>C (p.Arg990Thr)
c.2486G>C (p.Arg829Thr)
c.2381G>C (p.Arg794Thr)
3g.122284923G=CA1397873077CASRc.2738G= (p.Arg913=)
c.2999G= (p.Arg1000=)
c.2969G= (p.Arg990=)
c.2486G= (p.Arg829=)
c.2381G= (p.Arg794=)
3g.122284923G>TCA354161169CASRc.2738G>T (p.Arg913Met)
c.2999G>T (p.Arg1000Met)
c.2969G>T (p.Arg990Met)
c.2486G>T (p.Arg829Met)
c.2381G>T (p.Arg794Met)
3g.122284924G>ACA2569900CASRc.2739G>A (p.Arg913=)
c.3000G>A (p.Arg1000=)
c.2970G>A (p.Arg990=)
c.2487G>A (p.Arg829=)
c.2382G>A (p.Arg794=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122284924G>CCA354161170CASRc.2739G>C (p.Arg913Ser)
c.3000G>C (p.Arg1000Ser)
c.2970G>C (p.Arg990Ser)
c.2487G>C (p.Arg829Ser)
c.2382G>C (p.Arg794Ser)
3g.122284924G=CA1397873079CASRc.2739G= (p.Arg913=)
c.3000G= (p.Arg1000=)
c.2970G= (p.Arg990=)
c.2487G= (p.Arg829=)
c.2382G= (p.Arg794=)
3g.122284924G>TCA354161171CASRc.2739G>T (p.Arg913Ser)
c.3000G>T (p.Arg1000Ser)
c.2970G>T (p.Arg990Ser)
c.2487G>T (p.Arg829Ser)
c.2382G>T (p.Arg794Ser)
3g.122284925A=CA1397873081CASRc.2740A= (p.Asn914=)
c.3001A= (p.Asn1001=)
c.2971A= (p.Asn991=)
c.2488A= (p.Asn830=)
c.2383A= (p.Asn795=)
3g.122284925A>CCA354161172CASRc.2740A>C (p.Asn914His)
c.3001A>C (p.Asn1001His)
c.2971A>C (p.Asn991His)
c.2488A>C (p.Asn830His)
c.2383A>C (p.Asn795His)
 ClinVar dbSNP
3g.122284925A>GCA354161173CASRc.2740A>G (p.Asn914Asp)
c.3001A>G (p.Asn1001Asp)
c.2971A>G (p.Asn991Asp)
c.2488A>G (p.Asn830Asp)
c.2383A>G (p.Asn795Asp)
3g.122284925A>TCA354161174CASRc.2740A>T (p.Asn914Tyr)
c.3001A>T (p.Asn1001Tyr)
c.2971A>T (p.Asn991Tyr)
c.2488A>T (p.Asn830Tyr)
c.2383A>T (p.Asn795Tyr)
3g.122284926A>CCA354161176CASRc.2741A>C (p.Asn914Thr)
c.3002A>C (p.Asn1001Thr)
c.2972A>C (p.Asn991Thr)
c.2489A>C (p.Asn830Thr)
c.2384A>C (p.Asn795Thr)
3g.122284926A>GCA354161177CASRc.2741A>G (p.Asn914Ser)
c.3002A>G (p.Asn1001Ser)
c.2972A>G (p.Asn991Ser)
c.2489A>G (p.Asn830Ser)
c.2384A>G (p.Asn795Ser)
 COSMIC
3g.122284926A>TCA354161175CASRc.2741A>T (p.Asn914Ile)
c.3002A>T (p.Asn1001Ile)
c.2972A>T (p.Asn991Ile)
c.2489A>T (p.Asn830Ile)
c.2384A>T (p.Asn795Ile)
3g.122284927T>ACA354161179CASRc.2742T>A (p.Asn914Lys)
c.3003T>A (p.Asn1001Lys)
c.2973T>A (p.Asn991Lys)
c.2490T>A (p.Asn830Lys)
c.2385T>A (p.Asn795Lys)
 ClinVar
3g.122284927T>CCA435425782CASRc.2742T>C (p.Asn914=)
c.3003T>C (p.Asn1001=)
c.2973T>C (p.Asn991=)
c.2490T>C (p.Asn830=)
c.2385T>C (p.Asn795=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284927T>GCA354161178CASRc.2742T>G (p.Asn914Lys)
c.3003T>G (p.Asn1001Lys)
c.2973T>G (p.Asn991Lys)
c.2490T>G (p.Asn830Lys)
c.2385T>G (p.Asn795Lys)
3g.122284927T=CA1397873083CASRc.2742T= (p.Asn914=)
c.3003T= (p.Asn1001=)
c.2973T= (p.Asn991=)
c.2490T= (p.Asn830=)
c.2385T= (p.Asn795=)
3g.122284928T>ACA354161180CASRc.2743T>A (p.Ser915Thr)
c.3004T>A (p.Ser1002Thr)
c.2974T>A (p.Ser992Thr)
c.2491T>A (p.Ser831Thr)
c.2386T>A (p.Ser796Thr)
3g.122284928T>CCA354161181CASRc.2743T>C (p.Ser915Pro)
c.3004T>C (p.Ser1002Pro)
c.2974T>C (p.Ser992Pro)
c.2491T>C (p.Ser831Pro)
c.2386T>C (p.Ser796Pro)
3g.122284928T>GCA354161182CASRc.2743T>G (p.Ser915Ala)
c.3004T>G (p.Ser1002Ala)
c.2974T>G (p.Ser992Ala)
c.2491T>G (p.Ser831Ala)
c.2386T>G (p.Ser796Ala)
3g.122284929C>ACA354161183CASRc.2744C>A (p.Ser915Tyr)
c.3005C>A (p.Ser1002Tyr)
c.2975C>A (p.Ser992Tyr)
c.2492C>A (p.Ser831Tyr)
c.2387C>A (p.Ser796Tyr)
 gnomAD v4
3g.122284929C>GCA354161184CASRc.2744C>G (p.Ser915Cys)
c.3005C>G (p.Ser1002Cys)
c.2975C>G (p.Ser992Cys)
c.2492C>G (p.Ser831Cys)
c.2387C>G (p.Ser796Cys)
3g.122284929C>TCA354161185CASRc.2744C>T (p.Ser915Phe)
c.3005C>T (p.Ser1002Phe)
c.2975C>T (p.Ser992Phe)
c.2492C>T (p.Ser831Phe)
c.2387C>T (p.Ser796Phe)
3g.122284930T>ACA435425786CASRc.2745T>A (p.Ser915=)
c.3006T>A (p.Ser1002=)
c.2976T>A (p.Ser992=)
c.2493T>A (p.Ser831=)
c.2388T>A (p.Ser796=)
3g.122284930T>CCA435425787CASRc.2745T>C (p.Ser915=)
c.3006T>C (p.Ser1002=)
c.2976T>C (p.Ser992=)
c.2493T>C (p.Ser831=)
c.2388T>C (p.Ser796=)
 ClinVar dbSNP
3g.122284930T>GCA435425789CASRc.2745T>G (p.Ser915=)
c.3006T>G (p.Ser1002=)
c.2976T>G (p.Ser992=)
c.2493T>G (p.Ser831=)
c.2388T>G (p.Ser796=)
3g.122284931A>CCA354161186CASRc.2746A>C (p.Thr916Pro)
c.3007A>C (p.Thr1003Pro)
c.2977A>C (p.Thr993Pro)
c.2494A>C (p.Thr832Pro)
c.2389A>C (p.Thr797Pro)
3g.122284931A>GCA354161187CASRc.2746A>G (p.Thr916Ala)
c.3007A>G (p.Thr1003Ala)
c.2977A>G (p.Thr993Ala)
c.2494A>G (p.Thr832Ala)
c.2389A>G (p.Thr797Ala)
3g.122284931A>TCA354161188CASRc.2746A>T (p.Thr916Ser)
c.3007A>T (p.Thr1003Ser)
c.2977A>T (p.Thr993Ser)
c.2494A>T (p.Thr832Ser)
c.2389A>T (p.Thr797Ser)
 gnomAD v4
3g.122284932C>ACA354161189CASRc.2747C>A (p.Thr916Lys)
c.3008C>A (p.Thr1003Lys)
c.2978C>A (p.Thr993Lys)
c.2495C>A (p.Thr832Lys)
c.2390C>A (p.Thr797Lys)
3g.122284932C=CA1397873085CASRc.2747C= (p.Thr916=)
c.3008C= (p.Thr1003=)
c.2978C= (p.Thr993=)
c.2495C= (p.Thr832=)
c.2390C= (p.Thr797=)
3g.122284932C>GCA354161190CASRc.2747C>G (p.Thr916Arg)
c.3008C>G (p.Thr1003Arg)
c.2978C>G (p.Thr993Arg)
c.2495C>G (p.Thr832Arg)
c.2390C>G (p.Thr797Arg)
3g.122284932C>TCA2569901CASRc.2747C>T (p.Thr916Met)
c.3008C>T (p.Thr1003Met)
c.2978C>T (p.Thr993Met)
c.2495C>T (p.Thr832Met)
c.2390C>T (p.Thr797Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122284933G>ACA82749391CASRc.2748G>A (p.Thr916=)
c.3009G>A (p.Thr1003=)
c.2979G>A (p.Thr993=)
c.2496G>A (p.Thr832=)
c.2391G>A (p.Thr797=)
 ClinVar dbSNP gnomAD v4
3g.122284933G>CCA435425497CASRc.2748G>C (p.Thr916=)
c.3009G>C (p.Thr1003=)
c.2979G>C (p.Thr993=)
c.2496G>C (p.Thr832=)
c.2391G>C (p.Thr797=)
 ClinVar
3g.122284933G=CA1397873088CASRc.2748G= (p.Thr916=)
c.3009G= (p.Thr1003=)
c.2979G= (p.Thr993=)
c.2496G= (p.Thr832=)
c.2391G= (p.Thr797=)
3g.122284933G>TCA435425498CASRc.2748G>T (p.Thr916=)
c.3009G>T (p.Thr1003=)
c.2979G>T (p.Thr993=)
c.2496G>T (p.Thr832=)
c.2391G>T (p.Thr797=)
 gnomAD v4 COSMIC
3g.122284934C>ACA354161191CASRc.2749C>A (p.His917Asn)
c.3010C>A (p.His1004Asn)
c.2980C>A (p.His994Asn)
c.2497C>A (p.His833Asn)
c.2392C>A (p.His798Asn)
3g.122284934C=CA1397873090CASRc.2749C= (p.His917=)
c.3010C= (p.His1004=)
c.2980C= (p.His994=)
c.2497C= (p.His833=)
c.2392C= (p.His798=)
3g.122284934C>GCA354161193CASRc.2749C>G (p.His917Asp)
c.3010C>G (p.His1004Asp)
c.2980C>G (p.His994Asp)
c.2497C>G (p.His833Asp)
c.2392C>G (p.His798Asp)
3g.122284934C>TCA354161192CASRc.2749C>T (p.His917Tyr)
c.3010C>T (p.His1004Tyr)
c.2980C>T (p.His994Tyr)
c.2497C>T (p.His833Tyr)
c.2392C>T (p.His798Tyr)
 ClinVar dbSNP gnomAD v4
3g.122284935A>CCA354161194CASRc.2750A>C (p.His917Pro)
c.3011A>C (p.His1004Pro)
c.2981A>C (p.His994Pro)
c.2498A>C (p.His833Pro)
c.2393A>C (p.His798Pro)
 ClinVar
3g.122284935A>GCA354161195CASRc.2750A>G (p.His917Arg)
c.3011A>G (p.His1004Arg)
c.2981A>G (p.His994Arg)
c.2498A>G (p.His833Arg)
c.2393A>G (p.His798Arg)
3g.122284935A>TCA354161196CASRc.2750A>T (p.His917Leu)
c.3011A>T (p.His1004Leu)
c.2981A>T (p.His994Leu)
c.2498A>T (p.His833Leu)
c.2393A>T (p.His798Leu)
3g.122284936C>ACA354161197CASRc.2751C>A (p.His917Gln)
c.3012C>A (p.His1004Gln)
c.2982C>A (p.His994Gln)
c.2499C>A (p.His833Gln)
c.2394C>A (p.His798Gln)
3g.122284936C>GCA354161198CASRc.2751C>G (p.His917Gln)
c.3012C>G (p.His1004Gln)
c.2982C>G (p.His994Gln)
c.2499C>G (p.His833Gln)
c.2394C>G (p.His798Gln)
 ClinVar dbSNP gnomAD v4
3g.122284936C>TCA435425503CASRc.2751C>T (p.His917=)
c.3012C>T (p.His1004=)
c.2982C>T (p.His994=)
c.2499C>T (p.His833=)
c.2394C>T (p.His798=)
3g.122284937C>ACA354161199CASRc.2752C>A (p.Gln918Lys)
c.3013C>A (p.Gln1005Lys)
c.2983C>A (p.Gln995Lys)
c.2500C>A (p.Gln834Lys)
c.2395C>A (p.Gln799Lys)
 ClinVar
3g.122284937C>GCA354161200CASRc.2752C>G (p.Gln918Glu)
c.3013C>G (p.Gln1005Glu)
c.2983C>G (p.Gln995Glu)
c.2500C>G (p.Gln834Glu)
c.2395C>G (p.Gln799Glu)
3g.122284937C>TCA354161201CASRc.2752C>T (p.Gln918Ter)
c.3013C>T (p.Gln1005Ter)
c.2983C>T (p.Gln995Ter)
c.2500C>T (p.Gln834Ter)
c.2395C>T (p.Gln799Ter)
3g.122284938A>CCA354161202CASRc.2753A>C (p.Gln918Pro)
c.3014A>C (p.Gln1005Pro)
c.2984A>C (p.Gln995Pro)
c.2501A>C (p.Gln834Pro)
c.2396A>C (p.Gln799Pro)
3g.122284938A>GCA354161203CASRc.2753A>G (p.Gln918Arg)
c.3014A>G (p.Gln1005Arg)
c.2984A>G (p.Gln995Arg)
c.2501A>G (p.Gln834Arg)
c.2396A>G (p.Gln799Arg)
3g.122284938A>TCA354161204CASRc.2753A>T (p.Gln918Leu)
c.3014A>T (p.Gln1005Leu)
c.2984A>T (p.Gln995Leu)
c.2501A>T (p.Gln834Leu)
c.2396A>T (p.Gln799Leu)
3g.122284939G>ACA435425504CASRc.2754G>A (p.Gln918=)
c.3015G>A (p.Gln1005=)
c.2985G>A (p.Gln995=)
c.2502G>A (p.Gln834=)
c.2397G>A (p.Gln799=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122284939G>CCA82749393CASRc.2754G>C (p.Gln918His)
c.3015G>C (p.Gln1005His)
c.2985G>C (p.Gln995His)
c.2502G>C (p.Gln834His)
c.2397G>C (p.Gln799His)
 ClinVar dbSNP gnomAD v4
3g.122284939G=CA1397873093CASRc.2754G= (p.Gln918=)
c.3015G= (p.Gln1005=)
c.2985G= (p.Gln995=)
c.2502G= (p.Gln834=)
c.2397G= (p.Gln799=)
3g.122284939G>TCA354161205CASRc.2754G>T (p.Gln918His)
c.3015G>T (p.Gln1005His)
c.2985G>T (p.Gln995His)
c.2502G>T (p.Gln834His)
c.2397G>T (p.Gln799His)
3g.122284940A=CA1397873094CASRc.2755A= (p.Asn919=)
c.3016A= (p.Asn1006=)
c.2986A= (p.Asn996=)
c.2503A= (p.Asn835=)
c.2398A= (p.Asn800=)
3g.122284940A>CCA354161206CASRc.2755A>C (p.Asn919His)
c.3016A>C (p.Asn1006His)
c.2986A>C (p.Asn996His)
c.2503A>C (p.Asn835His)
c.2398A>C (p.Asn800His)
 ClinVar dbSNP
3g.122284940A>GCA354161208CASRc.2755A>G (p.Asn919Asp)
c.3016A>G (p.Asn1006Asp)
c.2986A>G (p.Asn996Asp)
c.2503A>G (p.Asn835Asp)
c.2398A>G (p.Asn800Asp)
3g.122284940A>TCA354161207CASRc.2755A>T (p.Asn919Tyr)
c.3016A>T (p.Asn1006Tyr)
c.2986A>T (p.Asn996Tyr)
c.2503A>T (p.Asn835Tyr)
c.2398A>T (p.Asn800Tyr)
3g.122284941A=CA1397873096CASRc.2756A= (p.Asn919=)
c.3017A= (p.Asn1006=)
c.2987A= (p.Asn996=)
c.2504A= (p.Asn835=)
c.2399A= (p.Asn800=)
3g.122284941A>CCA2569902CASRc.2756A>C (p.Asn919Thr)
c.3017A>C (p.Asn1006Thr)
c.2987A>C (p.Asn996Thr)
c.2504A>C (p.Asn835Thr)
c.2399A>C (p.Asn800Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284941A>GCA354161209CASRc.2756A>G (p.Asn919Ser)
c.3017A>G (p.Asn1006Ser)
c.2987A>G (p.Asn996Ser)
c.2504A>G (p.Asn835Ser)
c.2399A>G (p.Asn800Ser)
3g.122284941A>TCA354161210CASRc.2756A>T (p.Asn919Ile)
c.3017A>T (p.Asn1006Ile)
c.2987A>T (p.Asn996Ile)
c.2504A>T (p.Asn835Ile)
c.2399A>T (p.Asn800Ile)
3g.122284942C>ACA354161211CASRc.2757C>A (p.Asn919Lys)
c.3018C>A (p.Asn1006Lys)
c.2988C>A (p.Asn996Lys)
c.2505C>A (p.Asn835Lys)
c.2400C>A (p.Asn800Lys)
3g.122284942C>GCA354161212CASRc.2757C>G (p.Asn919Lys)
c.3018C>G (p.Asn1006Lys)
c.2988C>G (p.Asn996Lys)
c.2505C>G (p.Asn835Lys)
c.2400C>G (p.Asn800Lys)
3g.122284942C>TCA435425507CASRc.2757C>T (p.Asn919=)
c.3018C>T (p.Asn1006=)
c.2988C>T (p.Asn996=)
c.2505C>T (p.Asn835=)
c.2400C>T (p.Asn800=)
3g.122284943T>ACA354161213CASRc.2758T>A (p.Ser920Thr)
c.3019T>A (p.Ser1007Thr)
c.2989T>A (p.Ser997Thr)
c.2506T>A (p.Ser836Thr)
c.2401T>A (p.Ser801Thr)
3g.122284943T>CCA354161214CASRc.2758T>C (p.Ser920Pro)
c.3019T>C (p.Ser1007Pro)
c.2989T>C (p.Ser997Pro)
c.2506T>C (p.Ser836Pro)
c.2401T>C (p.Ser801Pro)
3g.122284943T>GCA354161215CASRc.2758T>G (p.Ser920Ala)
c.3019T>G (p.Ser1007Ala)
c.2989T>G (p.Ser997Ala)
c.2506T>G (p.Ser836Ala)
c.2401T>G (p.Ser801Ala)
3g.122284944C>ACA354161216CASRc.2759C>A (p.Ser920Tyr)
c.3020C>A (p.Ser1007Tyr)
c.2990C>A (p.Ser997Tyr)
c.2507C>A (p.Ser836Tyr)
c.2402C>A (p.Ser801Tyr)
 ClinVar dbSNP
3g.122284944C=CA1397873098CASRc.2759C= (p.Ser920=)
c.3020C= (p.Ser1007=)
c.2990C= (p.Ser997=)
c.2507C= (p.Ser836=)
c.2402C= (p.Ser801=)
3g.122284944C>GCA354161217CASRc.2759C>G (p.Ser920Cys)
c.3020C>G (p.Ser1007Cys)
c.2990C>G (p.Ser997Cys)
c.2507C>G (p.Ser836Cys)
c.2402C>G (p.Ser801Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284944C>TCA354161218CASRc.2759C>T (p.Ser920Phe)
c.3020C>T (p.Ser1007Phe)
c.2990C>T (p.Ser997Phe)
c.2507C>T (p.Ser836Phe)
c.2402C>T (p.Ser801Phe)
 ClinVar dbSNP COSMIC
3g.122284945C>ACA435425511CASRc.2760C>A (p.Ser920=)
c.3021C>A (p.Ser1007=)
c.2991C>A (p.Ser997=)
c.2508C>A (p.Ser836=)
c.2403C>A (p.Ser801=)
3g.122284945C=CA1397873101CASRc.2760C= (p.Ser920=)
c.3021C= (p.Ser1007=)
c.2991C= (p.Ser997=)
c.2508C= (p.Ser836=)
c.2403C= (p.Ser801=)
3g.122284945C>GCA435425513CASRc.2760C>G (p.Ser920=)
c.3021C>G (p.Ser1007=)
c.2991C>G (p.Ser997=)
c.2508C>G (p.Ser836=)
c.2403C>G (p.Ser801=)
 ClinVar
3g.122284945C>TCA82749401CASRc.2760C>T (p.Ser920=)
c.3021C>T (p.Ser1007=)
c.2991C>T (p.Ser997=)
c.2508C>T (p.Ser836=)
c.2403C>T (p.Ser801=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122284946C>ACA354161219CASRc.2761C>A (p.Leu921Met)
c.3022C>A (p.Leu1008Met)
c.2992C>A (p.Leu998Met)
c.2509C>A (p.Leu837Met)
c.2404C>A (p.Leu802Met)
3g.122284946C>GCA354161220CASRc.2761C>G (p.Leu921Val)
c.3022C>G (p.Leu1008Val)
c.2992C>G (p.Leu998Val)
c.2509C>G (p.Leu837Val)
c.2404C>G (p.Leu802Val)
3g.122284946C>TCA435425514CASRc.2761C>T (p.Leu921=)
c.3022C>T (p.Leu1008=)
c.2992C>T (p.Leu998=)
c.2509C>T (p.Leu837=)
c.2404C>T (p.Leu802=)
 gnomAD v4
3g.122284947T>ACA354161221CASRc.2762T>A (p.Leu921Gln)
c.3023T>A (p.Leu1008Gln)
c.2993T>A (p.Leu998Gln)
c.2510T>A (p.Leu837Gln)
c.2405T>A (p.Leu802Gln)
 ClinVar
3g.122284947T>CCA354161222CASRc.2762T>C (p.Leu921Pro)
c.3023T>C (p.Leu1008Pro)
c.2993T>C (p.Leu998Pro)
c.2510T>C (p.Leu837Pro)
c.2405T>C (p.Leu802Pro)
3g.122284947T>GCA354161223CASRc.2762T>G (p.Leu921Arg)
c.3023T>G (p.Leu1008Arg)
c.2993T>G (p.Leu998Arg)
c.2510T>G (p.Leu837Arg)
c.2405T>G (p.Leu802Arg)
3g.122284948G>ACA2569903CASRc.2763G>A (p.Leu921=)
c.3024G>A (p.Leu1008=)
c.2994G>A (p.Leu998=)
c.2511G>A (p.Leu837=)
c.2406G>A (p.Leu802=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284948G>CCA435425515CASRc.2763G>C (p.Leu921=)
c.3024G>C (p.Leu1008=)
c.2994G>C (p.Leu998=)
c.2511G>C (p.Leu837=)
c.2406G>C (p.Leu802=)
3g.122284948G=CA1397873103CASRc.2763G= (p.Leu921=)
c.3024G= (p.Leu1008=)
c.2994G= (p.Leu998=)
c.2511G= (p.Leu837=)
c.2406G= (p.Leu802=)
3g.122284948G>TCA435425516CASRc.2763G>T (p.Leu921=)
c.3024G>T (p.Leu1008=)
c.2994G>T (p.Leu998=)
c.2511G>T (p.Leu837=)
c.2406G>T (p.Leu802=)
3g.122284949G>ACA354161224CASRc.2764G>A (p.Glu922Lys)
c.3025G>A (p.Glu1009Lys)
c.2995G>A (p.Glu999Lys)
c.2512G>A (p.Glu838Lys)
c.2407G>A (p.Glu803Lys)
 ClinVar dbSNP gnomAD v4
3g.122284949G>CCA354161225CASRc.2764G>C (p.Glu922Gln)
c.3025G>C (p.Glu1009Gln)
c.2995G>C (p.Glu999Gln)
c.2512G>C (p.Glu838Gln)
c.2407G>C (p.Glu803Gln)
3g.122284949G=CA1397873105CASRc.2764G= (p.Glu922=)
c.3025G= (p.Glu1009=)
c.2995G= (p.Glu999=)
c.2512G= (p.Glu838=)
c.2407G= (p.Glu803=)
3g.122284949G>TCA354161226CASRc.2764G>T (p.Glu922Ter)
c.3025G>T (p.Glu1009Ter)
c.2995G>T (p.Glu999Ter)
c.2512G>T (p.Glu838Ter)
c.2407G>T (p.Glu803Ter)
3g.122284950A=CA1397873107CASRc.2765A= (p.Glu922=)
c.3026A= (p.Glu1009=)
c.2996A= (p.Glu999=)
c.2513A= (p.Glu838=)
c.2408A= (p.Glu803=)
3g.122284950A>CCA82749408CASRc.2765A>C (p.Glu922Ala)
c.3026A>C (p.Glu1009Ala)
c.2996A>C (p.Glu999Ala)
c.2513A>C (p.Glu838Ala)
c.2408A>C (p.Glu803Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122284950A>GCA354161227CASRc.2765A>G (p.Glu922Gly)
c.3026A>G (p.Glu1009Gly)
c.2996A>G (p.Glu999Gly)
c.2513A>G (p.Glu838Gly)
c.2408A>G (p.Glu803Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122284950A>TCA354161228CASRc.2765A>T (p.Glu922Val)
c.3026A>T (p.Glu1009Val)
c.2996A>T (p.Glu999Val)
c.2513A>T (p.Glu838Val)
c.2408A>T (p.Glu803Val)
 ClinVar dbSNP
3g.122284951G>ACA435425521CASRc.2766G>A (p.Glu922=)
c.3027G>A (p.Glu1009=)
c.2997G>A (p.Glu999=)
c.2514G>A (p.Glu838=)
c.2409G>A (p.Glu803=)
 gnomAD v4
3g.122284951G>CCA354161229CASRc.2766G>C (p.Glu922Asp)
c.3027G>C (p.Glu1009Asp)
c.2997G>C (p.Glu999Asp)
c.2514G>C (p.Glu838Asp)
c.2409G>C (p.Glu803Asp)
3g.122284951G>TCA354161230CASRc.2766G>T (p.Glu922Asp)
c.3027G>T (p.Glu1009Asp)
c.2997G>T (p.Glu999Asp)
c.2514G>T (p.Glu838Asp)
c.2409G>T (p.Glu803Asp)
3g.122284952G>ACA354161233CASRc.2767G>A (p.Ala923Thr)
c.3028G>A (p.Ala1010Thr)
c.2998G>A (p.Ala1000Thr)
c.2515G>A (p.Ala839Thr)
c.2410G>A (p.Ala804Thr)
 ClinVar gnomAD v4
3g.122284952G>CCA354161232CASRc.2767G>C (p.Ala923Pro)
c.3028G>C (p.Ala1010Pro)
c.2998G>C (p.Ala1000Pro)
c.2515G>C (p.Ala839Pro)
c.2410G>C (p.Ala804Pro)
3g.122284952G>TCA354161231CASRc.2767G>T (p.Ala923Ser)
c.3028G>T (p.Ala1010Ser)
c.2998G>T (p.Ala1000Ser)
c.2515G>T (p.Ala839Ser)
c.2410G>T (p.Ala804Ser)
3g.122284953C>ACA354161234CASRc.2768C>A (p.Ala923Asp)
c.3029C>A (p.Ala1010Asp)
c.2999C>A (p.Ala1000Asp)
c.2516C>A (p.Ala839Asp)
c.2411C>A (p.Ala804Asp)
3g.122284953C>GCA354161236CASRc.2768C>G (p.Ala923Gly)
c.3029C>G (p.Ala1010Gly)
c.2999C>G (p.Ala1000Gly)
c.2516C>G (p.Ala839Gly)
c.2411C>G (p.Ala804Gly)
3g.122284953C>TCA354161235CASRc.2768C>T (p.Ala923Val)
c.3029C>T (p.Ala1010Val)
c.2999C>T (p.Ala1000Val)
c.2516C>T (p.Ala839Val)
c.2411C>T (p.Ala804Val)
 ClinVar
3g.122284954C>ACA435425523CASRc.2769C>A (p.Ala923=)
c.3030C>A (p.Ala1010=)
c.3000C>A (p.Ala1000=)
c.2517C>A (p.Ala839=)
c.2412C>A (p.Ala804=)
3g.122284954C>GCA435425525CASRc.2769C>G (p.Ala923=)
c.3030C>G (p.Ala1010=)
c.3000C>G (p.Ala1000=)
c.2517C>G (p.Ala839=)
c.2412C>G (p.Ala804=)
 ClinVar dbSNP gnomAD v4
3g.122284954C>TCA435425527CASRc.2769C>T (p.Ala923=)
c.3030C>T (p.Ala1010=)
c.3000C>T (p.Ala1000=)
c.2517C>T (p.Ala839=)
c.2412C>T (p.Ala804=)
3g.122284955C>ACA2569904CASRc.2770C>A (p.Gln924Lys)
c.3031C>A (p.Gln1011Lys)
c.3001C>A (p.Gln1001Lys)
c.2518C>A (p.Gln840Lys)
c.2413C>A (p.Gln805Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284955C=CA1397873110CASRc.2770C= (p.Gln924=)
c.3031C= (p.Gln1011=)
c.3001C= (p.Gln1001=)
c.2518C= (p.Gln840=)
c.2413C= (p.Gln805=)
3g.122284955C>GCA354161238CASRc.2770C>G (p.Gln924Glu)
c.3031C>G (p.Gln1011Glu)
c.3001C>G (p.Gln1001Glu)
c.2518C>G (p.Gln840Glu)
c.2413C>G (p.Gln805Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122284955C>TCA354161237CASRc.2770C>T (p.Gln924Ter)
c.3031C>T (p.Gln1011Ter)
c.3001C>T (p.Gln1001Ter)
c.2518C>T (p.Gln840Ter)
c.2413C>T (p.Gln805Ter)
 ClinVar
3g.122284956A=CA1397873112CASRc.2771A= (p.Gln924=)
c.3032A= (p.Gln1011=)
c.3002A= (p.Gln1001=)
c.2519A= (p.Gln840=)
c.2414A= (p.Gln805=)
3g.122284956A>CCA354161239CASRc.2771A>C (p.Gln924Pro)
c.3032A>C (p.Gln1011Pro)
c.3002A>C (p.Gln1001Pro)
c.2519A>C (p.Gln840Pro)
c.2414A>C (p.Gln805Pro)
 ClinVar dbSNP gnomAD v4
3g.122284956A>GCA354161240CASRc.2771A>G (p.Gln924Arg)
c.3032A>G (p.Gln1011Arg)
c.3002A>G (p.Gln1001Arg)
c.2519A>G (p.Gln840Arg)
c.2414A>G (p.Gln805Arg)
 gnomAD v4
3g.122284956A>TCA354161241CASRc.2771A>T (p.Gln924Leu)
c.3032A>T (p.Gln1011Leu)
c.3002A>T (p.Gln1001Leu)
c.2519A>T (p.Gln840Leu)
c.2414A>T (p.Gln805Leu)
3g.122284957G>ACA435425528CASRc.2772G>A (p.Gln924=)
c.3033G>A (p.Gln1011=)
c.3003G>A (p.Gln1001=)
c.2520G>A (p.Gln840=)
c.2415G>A (p.Gln805=)
3g.122284957G>CCA354161242CASRc.2772G>C (p.Gln924His)
c.3033G>C (p.Gln1011His)
c.3003G>C (p.Gln1001His)
c.2520G>C (p.Gln840His)
c.2415G>C (p.Gln805His)
3g.122284957G>TCA354161243CASRc.2772G>T (p.Gln924His)
c.3033G>T (p.Gln1011His)
c.3003G>T (p.Gln1001His)
c.2520G>T (p.Gln840His)
c.2415G>T (p.Gln805His)
3g.122284958A=CA1397873114CASRc.2773A= (p.Lys925=)
c.3034A= (p.Lys1012=)
c.3004A= (p.Lys1002=)
c.2521A= (p.Lys841=)
c.2416A= (p.Lys806=)
3g.122284958A>CCA354161244CASRc.2773A>C (p.Lys925Gln)
c.3034A>C (p.Lys1012Gln)
c.3004A>C (p.Lys1002Gln)
c.2521A>C (p.Lys841Gln)
c.2416A>C (p.Lys806Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284958A>GCA354161245CASRc.2773A>G (p.Lys925Glu)
c.3034A>G (p.Lys1012Glu)
c.3004A>G (p.Lys1002Glu)
c.2521A>G (p.Lys841Glu)
c.2416A>G (p.Lys806Glu)
 ClinVar dbSNP
3g.122284958A>TCA354161246CASRc.2773A>T (p.Lys925Ter)
c.3034A>T (p.Lys1012Ter)
c.3004A>T (p.Lys1002Ter)
c.2521A>T (p.Lys841Ter)
c.2416A>T (p.Lys806Ter)
3g.122284959A>CCA354161247CASRc.2774A>C (p.Lys925Thr)
c.3035A>C (p.Lys1012Thr)
c.3005A>C (p.Lys1002Thr)
c.2522A>C (p.Lys841Thr)
c.2417A>C (p.Lys806Thr)
3g.122284959A>GCA354161248CASRc.2774A>G (p.Lys925Arg)
c.3035A>G (p.Lys1012Arg)
c.3005A>G (p.Lys1002Arg)
c.2522A>G (p.Lys841Arg)
c.2417A>G (p.Lys806Arg)
3g.122284959A>TCA354161249CASRc.2774A>T (p.Lys925Ile)
c.3035A>T (p.Lys1012Ile)
c.3005A>T (p.Lys1002Ile)
c.2522A>T (p.Lys841Ile)
c.2417A>T (p.Lys806Ile)
3g.122284960A>CCA354161251CASRc.2775A>C (p.Lys925Asn)
c.3036A>C (p.Lys1012Asn)
c.3006A>C (p.Lys1002Asn)
c.2523A>C (p.Lys841Asn)
c.2418A>C (p.Lys806Asn)
3g.122284960A>GCA435425532CASRc.2775A>G (p.Lys925=)
c.3036A>G (p.Lys1012=)
c.3006A>G (p.Lys1002=)
c.2523A>G (p.Lys841=)
c.2418A>G (p.Lys806=)
3g.122284960A>TCA354161250CASRc.2775A>T (p.Lys925Asn)
c.3036A>T (p.Lys1012Asn)
c.3006A>T (p.Lys1002Asn)
c.2523A>T (p.Lys841Asn)
c.2418A>T (p.Lys806Asn)
3g.122284961A>CCA354161252CASRc.2776A>C (p.Ser926Arg)
c.3037A>C (p.Ser1013Arg)
c.3007A>C (p.Ser1003Arg)
c.2524A>C (p.Ser842Arg)
c.2419A>C (p.Ser807Arg)
3g.122284961A>GCA354161253CASRc.2776A>G (p.Ser926Gly)
c.3037A>G (p.Ser1013Gly)
c.3007A>G (p.Ser1003Gly)
c.2524A>G (p.Ser842Gly)
c.2419A>G (p.Ser807Gly)
3g.122284961A>TCA354161254CASRc.2776A>T (p.Ser926Cys)
c.3037A>T (p.Ser1013Cys)
c.3007A>T (p.Ser1003Cys)
c.2524A>T (p.Ser842Cys)
c.2419A>T (p.Ser807Cys)
3g.122284962G>ACA354161255CASRc.2777G>A (p.Ser926Asn)
c.3038G>A (p.Ser1013Asn)
c.3008G>A (p.Ser1003Asn)
c.2525G>A (p.Ser842Asn)
c.2420G>A (p.Ser807Asn)
 ClinVar dbSNP gnomAD v4
3g.122284962G>CCA354161256CASRc.2777G>C (p.Ser926Thr)
c.3038G>C (p.Ser1013Thr)
c.3008G>C (p.Ser1003Thr)
c.2525G>C (p.Ser842Thr)
c.2420G>C (p.Ser807Thr)
3g.122284962G=CA1397873117CASRc.2777G= (p.Ser926=)
c.3038G= (p.Ser1013=)
c.3008G= (p.Ser1003=)
c.2525G= (p.Ser842=)
c.2420G= (p.Ser807=)
3g.122284962G>TCA354161257CASRc.2777G>T (p.Ser926Ile)
c.3038G>T (p.Ser1013Ile)
c.3008G>T (p.Ser1003Ile)
c.2525G>T (p.Ser842Ile)
c.2420G>T (p.Ser807Ile)
3g.122284963C>ACA354161258CASRc.2778C>A (p.Ser926Arg)
c.3039C>A (p.Ser1013Arg)
c.3009C>A (p.Ser1003Arg)
c.2526C>A (p.Ser842Arg)
c.2421C>A (p.Ser807Arg)
3g.122284963C>GCA354161259CASRc.2778C>G (p.Ser926Arg)
c.3039C>G (p.Ser1013Arg)
c.3009C>G (p.Ser1003Arg)
c.2526C>G (p.Ser842Arg)
c.2421C>G (p.Ser807Arg)
3g.122284963C>TCA435425535CASRc.2778C>T (p.Ser926=)
c.3039C>T (p.Ser1013=)
c.3009C>T (p.Ser1003=)
c.2526C>T (p.Ser842=)
c.2421C>T (p.Ser807=)
3g.122284963_122284964delinsCACA1397873119CASRc.2778_2779delinsCA (p.Ser926=)
c.3039_3040delinsCA (p.Ser1013=)
c.3009_3010delinsCA (p.Ser1003=)
c.2526_2527delinsCA (p.Ser842=)
c.2421_2422delinsCA (p.Ser807=)
3g.122284964delCA645369338CASRc.2779del (p.Ser927AlafsTer4)
c.3040del (p.Ser1014AlafsTer4)
c.3010del (p.Ser1004AlafsTer4)
c.2527del (p.Ser843AlafsTer4)
c.2422del (p.Ser808AlafsTer4)
 ClinVar dbSNP
3g.122284964A=CA1397873121CASRc.2779A= (p.Ser927=)
c.3040A= (p.Ser1014=)
c.3010A= (p.Ser1004=)
c.2527A= (p.Ser843=)
c.2422A= (p.Ser808=)
3g.122284964A>CCA2569905CASRc.2779A>C (p.Ser927Arg)
c.3040A>C (p.Ser1014Arg)
c.3010A>C (p.Ser1004Arg)
c.2527A>C (p.Ser843Arg)
c.2422A>C (p.Ser808Arg)
 ClinVar dbSNP ExAC gnomAD v2
3g.122284964A>GCA354161260CASRc.2779A>G (p.Ser927Gly)
c.3040A>G (p.Ser1014Gly)
c.3010A>G (p.Ser1004Gly)
c.2527A>G (p.Ser843Gly)
c.2422A>G (p.Ser808Gly)
3g.122284964A>TCA354161261CASRc.2779A>T (p.Ser927Cys)
c.3040A>T (p.Ser1014Cys)
c.3010A>T (p.Ser1004Cys)
c.2527A>T (p.Ser843Cys)
c.2422A>T (p.Ser808Cys)
 ClinVar dbSNP
3g.122284965G>ACA354161263CASRc.2780G>A (p.Ser927Asn)
c.3041G>A (p.Ser1014Asn)
c.3011G>A (p.Ser1004Asn)
c.2528G>A (p.Ser843Asn)
c.2423G>A (p.Ser808Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122284965G>CCA354161264CASRc.2780G>C (p.Ser927Thr)
c.3041G>C (p.Ser1014Thr)
c.3011G>C (p.Ser1004Thr)
c.2528G>C (p.Ser843Thr)
c.2423G>C (p.Ser808Thr)
3g.122284965G=CA1397873126CASRc.2780G= (p.Ser927=)
c.3041G= (p.Ser1014=)
c.3011G= (p.Ser1004=)
c.2528G= (p.Ser843=)
c.2423G= (p.Ser808=)
3g.122284965G>TCA354161262CASRc.2780G>T (p.Ser927Ile)
c.3041G>T (p.Ser1014Ile)
c.3011G>T (p.Ser1004Ile)
c.2528G>T (p.Ser843Ile)
c.2423G>T (p.Ser808Ile)
3g.122284966C>ACA354161265CASRc.2781C>A (p.Ser927Arg)
c.3042C>A (p.Ser1014Arg)
c.3012C>A (p.Ser1004Arg)
c.2529C>A (p.Ser843Arg)
c.2424C>A (p.Ser808Arg)
 dbSNP gnomAD v4
3g.122284966C=CA1397873127CASRc.2781C= (p.Ser927=)
c.3042C= (p.Ser1014=)
c.3012C= (p.Ser1004=)
c.2529C= (p.Ser843=)
c.2424C= (p.Ser808=)
3g.122284966C>GCA354161266CASRc.2781C>G (p.Ser927Arg)
c.3042C>G (p.Ser1014Arg)
c.3012C>G (p.Ser1004Arg)
c.2529C>G (p.Ser843Arg)
c.2424C>G (p.Ser808Arg)
3g.122284966C>TCA435425537CASRc.2781C>T (p.Ser927=)
c.3042C>T (p.Ser1014=)
c.3012C>T (p.Ser1004=)
c.2529C>T (p.Ser843=)
c.2424C>T (p.Ser808=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122284967G>ACA2569906CASRc.2782G>A (p.Asp928Asn)
c.3043G>A (p.Asp1015Asn)
c.3013G>A (p.Asp1005Asn)
c.2530G>A (p.Asp844Asn)
c.2425G>A (p.Asp809Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284967G>CCA354161267CASRc.2782G>C (p.Asp928His)
c.3043G>C (p.Asp1015His)
c.3013G>C (p.Asp1005His)
c.2530G>C (p.Asp844His)
c.2425G>C (p.Asp809His)
 ClinVar dbSNP gnomAD v4
3g.122284967G=CA1397873129CASRc.2782G= (p.Asp928=)
c.3043G= (p.Asp1015=)
c.3013G= (p.Asp1005=)
c.2530G= (p.Asp844=)
c.2425G= (p.Asp809=)
3g.122284967G>TCA2569907CASRc.2782G>T (p.Asp928Tyr)
c.3043G>T (p.Asp1015Tyr)
c.3013G>T (p.Asp1005Tyr)
c.2530G>T (p.Asp844Tyr)
c.2425G>T (p.Asp809Tyr)
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.122284968A>CCA354161270CASRc.2783A>C (p.Asp928Ala)
c.3044A>C (p.Asp1015Ala)
c.3014A>C (p.Asp1005Ala)
c.2531A>C (p.Asp844Ala)
c.2426A>C (p.Asp809Ala)
3g.122284968A>GCA354161268CASRc.2783A>G (p.Asp928Gly)
c.3044A>G (p.Asp1015Gly)
c.3014A>G (p.Asp1005Gly)
c.2531A>G (p.Asp844Gly)
c.2426A>G (p.Asp809Gly)
3g.122284968A>TCA354161269CASRc.2783A>T (p.Asp928Val)
c.3044A>T (p.Asp1015Val)
c.3014A>T (p.Asp1005Val)
c.2531A>T (p.Asp844Val)
c.2426A>T (p.Asp809Val)
3g.122284969T>ACA354161271CASRc.2784T>A (p.Asp928Glu)
c.3045T>A (p.Asp1015Glu)
c.3015T>A (p.Asp1005Glu)
c.2532T>A (p.Asp844Glu)
c.2427T>A (p.Asp809Glu)
3g.122284969T>CCA435425541CASRc.2784T>C (p.Asp928=)
c.3045T>C (p.Asp1015=)
c.3015T>C (p.Asp1005=)
c.2532T>C (p.Asp844=)
c.2427T>C (p.Asp809=)
 ClinVar
3g.122284969T>GCA354161272CASRc.2784T>G (p.Asp928Glu)
c.3045T>G (p.Asp1015Glu)
c.3015T>G (p.Asp1005Glu)
c.2532T>G (p.Asp844Glu)
c.2427T>G (p.Asp809Glu)
3g.122284970A=CA1397873132CASRc.2785A= (p.Thr929=)
c.3046A= (p.Thr1016=)
c.3016A= (p.Thr1006=)
c.2533A= (p.Thr845=)
c.2428A= (p.Thr810=)
3g.122284970A>CCA354161273CASRc.2785A>C (p.Thr929Pro)
c.3046A>C (p.Thr1016Pro)
c.3016A>C (p.Thr1006Pro)
c.2533A>C (p.Thr845Pro)
c.2428A>C (p.Thr810Pro)
3g.122284970A>GCA354161274CASRc.2785A>G (p.Thr929Ala)
c.3046A>G (p.Thr1016Ala)
c.3016A>G (p.Thr1006Ala)
c.2533A>G (p.Thr845Ala)
c.2428A>G (p.Thr810Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122284970A>TCA354161275CASRc.2785A>T (p.Thr929Ser)
c.3046A>T (p.Thr1016Ser)
c.3016A>T (p.Thr1006Ser)
c.2533A>T (p.Thr845Ser)
c.2428A>T (p.Thr810Ser)
 dbSNP
3g.122284971C>ACA354161276CASRc.2786C>A (p.Thr929Lys)
c.3047C>A (p.Thr1016Lys)
c.3017C>A (p.Thr1006Lys)
c.2534C>A (p.Thr845Lys)
c.2429C>A (p.Thr810Lys)
 dbSNP gnomAD v4
3g.122284971C=CA1397873134CASRc.2786C= (p.Thr929=)
c.3047C= (p.Thr1016=)
c.3017C= (p.Thr1006=)
c.2534C= (p.Thr845=)
c.2429C= (p.Thr810=)
3g.122284971C>GCA354161277CASRc.2786C>G (p.Thr929Arg)
c.3047C>G (p.Thr1016Arg)
c.3017C>G (p.Thr1006Arg)
c.2534C>G (p.Thr845Arg)
c.2429C>G (p.Thr810Arg)
 ClinVar
3g.122284971C>TCA2569908CASRc.2786C>T (p.Thr929Met)
c.3047C>T (p.Thr1016Met)
c.3017C>T (p.Thr1006Met)
c.2534C>T (p.Thr845Met)
c.2429C>T (p.Thr810Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122284972G>ACA2569909CASRc.2787G>A (p.Thr929=)
c.3048G>A (p.Thr1016=)
c.3018G>A (p.Thr1006=)
c.2535G>A (p.Thr845=)
c.2430G>A (p.Thr810=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284972G>CCA435425542CASRc.2787G>C (p.Thr929=)
c.3048G>C (p.Thr1016=)
c.3018G>C (p.Thr1006=)
c.2535G>C (p.Thr845=)
c.2430G>C (p.Thr810=)
 dbSNP
3g.122284972G=CA1397873138CASRc.2787G= (p.Thr929=)
c.3048G= (p.Thr1016=)
c.3018G= (p.Thr1006=)
c.2535G= (p.Thr845=)
c.2430G= (p.Thr810=)
3g.122284972G>TCA435425543CASRc.2787G>T (p.Thr929=)
c.3048G>T (p.Thr1016=)
c.3018G>T (p.Thr1006=)
c.2535G>T (p.Thr845=)
c.2430G>T (p.Thr810=)
 ClinVar dbSNP
3g.122284973C>ACA354161278CASRc.2788C>A (p.Leu930Met)
c.3049C>A (p.Leu1017Met)
c.3019C>A (p.Leu1007Met)
c.2536C>A (p.Leu846Met)
c.2431C>A (p.Leu811Met)
 dbSNP gnomAD v2 gnomAD v4
3g.122284973C=CA1397873140CASRc.2788C= (p.Leu930=)
c.3049C= (p.Leu1017=)
c.3019C= (p.Leu1007=)
c.2536C= (p.Leu846=)
c.2431C= (p.Leu811=)
3g.122284973C>GCA354161279CASRc.2788C>G (p.Leu930Val)
c.3049C>G (p.Leu1017Val)
c.3019C>G (p.Leu1007Val)
c.2536C>G (p.Leu846Val)
c.2431C>G (p.Leu811Val)
3g.122284973C>TCA435425544CASRc.2788C>T (p.Leu930=)
c.3049C>T (p.Leu1017=)
c.3019C>T (p.Leu1007=)
c.2536C>T (p.Leu846=)
c.2431C>T (p.Leu811=)
3g.122284974T>ACA82749437CASRc.2789T>A (p.Leu930Gln)
c.3050T>A (p.Leu1017Gln)
c.3020T>A (p.Leu1007Gln)
c.2537T>A (p.Leu846Gln)
c.2432T>A (p.Leu811Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284974T>CCA354161280CASRc.2789T>C (p.Leu930Pro)
c.3050T>C (p.Leu1017Pro)
c.3020T>C (p.Leu1007Pro)
c.2537T>C (p.Leu846Pro)
c.2432T>C (p.Leu811Pro)
3g.122284974T>GCA354161281CASRc.2789T>G (p.Leu930Arg)
c.3050T>G (p.Leu1017Arg)
c.3020T>G (p.Leu1007Arg)
c.2537T>G (p.Leu846Arg)
c.2432T>G (p.Leu811Arg)
3g.122284974T=CA1397873142CASRc.2789T= (p.Leu930=)
c.3050T= (p.Leu1017=)
c.3020T= (p.Leu1007=)
c.2537T= (p.Leu846=)
c.2432T= (p.Leu811=)
3g.122284975G>ACA435425545CASRc.2790G>A (p.Leu930=)
c.3051G>A (p.Leu1017=)
c.3021G>A (p.Leu1007=)
c.2538G>A (p.Leu846=)
c.2433G>A (p.Leu811=)
3g.122284975G>CCA435425546CASRc.2790G>C (p.Leu930=)
c.3051G>C (p.Leu1017=)
c.3021G>C (p.Leu1007=)
c.2538G>C (p.Leu846=)
c.2433G>C (p.Leu811=)
 ClinVar
3g.122284975G>TCA435425547CASRc.2790G>T (p.Leu930=)
c.3051G>T (p.Leu1017=)
c.3021G>T (p.Leu1007=)
c.2538G>T (p.Leu846=)
c.2433G>T (p.Leu811=)
 ClinVar gnomAD v4
3g.122284976A=CA1397873144CASRc.2791A= (p.Thr931=)
c.3052A= (p.Thr1018=)
c.3022A= (p.Thr1008=)
c.2539A= (p.Thr847=)
c.2434A= (p.Thr812=)
3g.122284976A>CCA2569910CASRc.2791A>C (p.Thr931Pro)
c.3052A>C (p.Thr1018Pro)
c.3022A>C (p.Thr1008Pro)
c.2539A>C (p.Thr847Pro)
c.2434A>C (p.Thr812Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284976A>GCA354161282CASRc.2791A>G (p.Thr931Ala)
c.3052A>G (p.Thr1018Ala)
c.3022A>G (p.Thr1008Ala)
c.2539A>G (p.Thr847Ala)
c.2434A>G (p.Thr812Ala)
3g.122284976A>TCA354161283CASRc.2791A>T (p.Thr931Ser)
c.3052A>T (p.Thr1018Ser)
c.3022A>T (p.Thr1008Ser)
c.2539A>T (p.Thr847Ser)
c.2434A>T (p.Thr812Ser)
3g.122284977C>ACA354161284CASRc.2792C>A (p.Thr931Asn)
c.3053C>A (p.Thr1018Asn)
c.3023C>A (p.Thr1008Asn)
c.2540C>A (p.Thr847Asn)
c.2435C>A (p.Thr812Asn)
3g.122284977C>GCA354161285CASRc.2792C>G (p.Thr931Ser)
c.3053C>G (p.Thr1018Ser)
c.3023C>G (p.Thr1008Ser)
c.2540C>G (p.Thr847Ser)
c.2435C>G (p.Thr812Ser)
 dbSNP
3g.122284977C>TCA354161286CASRc.2792C>T (p.Thr931Ile)
c.3053C>T (p.Thr1018Ile)
c.3023C>T (p.Thr1008Ile)
c.2540C>T (p.Thr847Ile)
c.2435C>T (p.Thr812Ile)
3g.122284978C>ACA435425549CASRc.2793C>A (p.Thr931=)
c.3054C>A (p.Thr1018=)
c.3024C>A (p.Thr1008=)
c.2541C>A (p.Thr847=)
c.2436C>A (p.Thr812=)
3g.122284978C=CA1397873146CASRc.2793C= (p.Thr931=)
c.3054C= (p.Thr1018=)
c.3024C= (p.Thr1008=)
c.2541C= (p.Thr847=)
c.2436C= (p.Thr812=)
3g.122284978C>GCA435425548CASRc.2793C>G (p.Thr931=)
c.3054C>G (p.Thr1018=)
c.3024C>G (p.Thr1008=)
c.2541C>G (p.Thr847=)
c.2436C>G (p.Thr812=)
3g.122284978C>TCA2569911CASRc.2793C>T (p.Thr931=)
c.3054C>T (p.Thr1018=)
c.3024C>T (p.Thr1008=)
c.2541C>T (p.Thr847=)
c.2436C>T (p.Thr812=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284979C>ACA435425550CASRc.2794C>A (p.Arg932=)
c.3055C>A (p.Arg1019=)
c.3025C>A (p.Arg1009=)
c.2542C>A (p.Arg848=)
c.2437C>A (p.Arg813=)
3g.122284979C=CA1397873149CASRc.2794C= (p.Arg932=)
c.3055C= (p.Arg1019=)
c.3025C= (p.Arg1009=)
c.2542C= (p.Arg848=)
c.2437C= (p.Arg813=)
3g.122284979C>GCA354161288CASRc.2794C>G (p.Arg932Gly)
c.3055C>G (p.Arg1019Gly)
c.3025C>G (p.Arg1009Gly)
c.2542C>G (p.Arg848Gly)
c.2437C>G (p.Arg813Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284979C>TCA354161287CASRc.2794C>T (p.Arg932Ter)
c.3055C>T (p.Arg1019Ter)
c.3025C>T (p.Arg1009Ter)
c.2542C>T (p.Arg848Ter)
c.2437C>T (p.Arg813Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284979_122284985delinsCGACACGCA1397873148CASRc.2794_2800delinsCGACACG (p.Arg932=)
c.3055_3061delinsCGACACG (p.Arg1019=)
c.3025_3031delinsCGACACG (p.Arg1009=)
c.2542_2548delinsCGACACG (p.Arg848=)
c.2437_2443delinsCGACACG (p.Arg813=)
3g.122284980G>ACA2569912CASRc.2795G>A (p.Arg932Gln)
c.3056G>A (p.Arg1019Gln)
c.3026G>A (p.Arg1009Gln)
c.2543G>A (p.Arg848Gln)
c.2438G>A (p.Arg813Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284980G>CCA354161289CASRc.2795G>C (p.Arg932Pro)
c.3056G>C (p.Arg1019Pro)
c.3026G>C (p.Arg1009Pro)
c.2543G>C (p.Arg848Pro)
c.2438G>C (p.Arg813Pro)
 dbSNP gnomAD v3 gnomAD v4
3g.122284980G=CA1397873151CASRc.2795G= (p.Arg932=)
c.3056G= (p.Arg1019=)
c.3026G= (p.Arg1009=)
c.2543G= (p.Arg848=)
c.2438G= (p.Arg813=)
3g.122284980G>TCA2569913CASRc.2795G>T (p.Arg932Leu)
c.3056G>T (p.Arg1019Leu)
c.3026G>T (p.Arg1009Leu)
c.2543G>T (p.Arg848Leu)
c.2438G>T (p.Arg813Leu)
 dbSNP ExAC gnomAD v4
3g.122284980_122284985delCA82749451CASRc.2795_2800del (p.Arg932_Glu934delinsGln)
c.3056_3061del (p.Arg1019_Glu1021delinsGln)
c.3026_3031del (p.Arg1009_Glu1011delinsGln)
c.2543_2548del (p.Arg848_Glu850delinsGln)
c.2438_2443del (p.Arg813_Glu815delinsGln)
 dbSNP
3g.122284981A=CA1397873153CASRc.2796A= (p.Arg932=)
c.3057A= (p.Arg1019=)
c.3027A= (p.Arg1009=)
c.2544A= (p.Arg848=)
c.2439A= (p.Arg813=)
3g.122284981A>CCA82749458CASRc.2796A>C (p.Arg932=)
c.3057A>C (p.Arg1019=)
c.3027A>C (p.Arg1009=)
c.2544A>C (p.Arg848=)
c.2439A>C (p.Arg813=)
 dbSNP
3g.122284981A>GCA435425551CASRc.2796A>G (p.Arg932=)
c.3057A>G (p.Arg1019=)
c.3027A>G (p.Arg1009=)
c.2544A>G (p.Arg848=)
c.2439A>G (p.Arg813=)
3g.122284981A>TCA435425552CASRc.2796A>T (p.Arg932=)
c.3057A>T (p.Arg1019=)
c.3027A>T (p.Arg1009=)
c.2544A>T (p.Arg848=)
c.2439A>T (p.Arg813=)
3g.122284981_122284986delCA354161290CASRc.2796_2801del (p.His933_Glu934del)
c.3057_3062del (p.His1020_Glu1021del)
c.3027_3032del (p.His1010_Glu1011del)
c.2544_2549del (p.His849_Glu850del)
c.2439_2444del (p.His814_Glu815del)
3g.122284982C>ACA354161291CASRc.2797C>A (p.His933Asn)
c.3058C>A (p.His1020Asn)
c.3028C>A (p.His1010Asn)
c.2545C>A (p.His849Asn)
c.2440C>A (p.His814Asn)
3g.122284982C=CA1397873155CASRc.2797C= (p.His933=)
c.3058C= (p.His1020=)
c.3028C= (p.His1010=)
c.2545C= (p.His849=)
c.2440C= (p.His814=)
3g.122284982C>GCA354161292CASRc.2797C>G (p.His933Asp)
c.3058C>G (p.His1020Asp)
c.3028C>G (p.His1010Asp)
c.2545C>G (p.His849Asp)
c.2440C>G (p.His814Asp)
3g.122284982C>TCA2569914CASRc.2797C>T (p.His933Tyr)
c.3058C>T (p.His1020Tyr)
c.3028C>T (p.His1010Tyr)
c.2545C>T (p.His849Tyr)
c.2440C>T (p.His814Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284983A=CA1397873156CASRc.2798A= (p.His933=)
c.3059A= (p.His1020=)
c.3029A= (p.His1010=)
c.2546A= (p.His849=)
c.2441A= (p.His814=)
3g.122284983A>CCA2569915CASRc.2798A>C (p.His933Pro)
c.3059A>C (p.His1020Pro)
c.3029A>C (p.His1010Pro)
c.2546A>C (p.His849Pro)
c.2441A>C (p.His814Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284983A>GCA354161293CASRc.2798A>G (p.His933Arg)
c.3059A>G (p.His1020Arg)
c.3029A>G (p.His1010Arg)
c.2546A>G (p.His849Arg)
c.2441A>G (p.His814Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122284983A>TCA354161294CASRc.2798A>T (p.His933Leu)
c.3059A>T (p.His1020Leu)
c.3029A>T (p.His1010Leu)
c.2546A>T (p.His849Leu)
c.2441A>T (p.His814Leu)
3g.122284983dupCA2667224936CASRc.2798dup (p.His933GlnfsTer?)
c.3059dup (p.His1020GlnfsTer?)
c.3029dup (p.His1010GlnfsTer?)
c.2546dup (p.His849GlnfsTer?)
c.2441dup (p.His814GlnfsTer?)
 gnomAD v4
3g.122284984C>ACA354161295CASRc.2799C>A (p.His933Gln)
c.3060C>A (p.His1020Gln)
c.3030C>A (p.His1010Gln)
c.2547C>A (p.His849Gln)
c.2442C>A (p.His814Gln)
3g.122284984C=CA1397873160CASRc.2799C= (p.His933=)
c.3060C= (p.His1020=)
c.3030C= (p.His1010=)
c.2547C= (p.His849=)
c.2442C= (p.His814=)
3g.122284984C>GCA2569916CASRc.2799C>G (p.His933Gln)
c.3060C>G (p.His1020Gln)
c.3030C>G (p.His1010Gln)
c.2547C>G (p.His849Gln)
c.2442C>G (p.His814Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284984C>TCA2569917CASRc.2799C>T (p.His933=)
c.3060C>T (p.His1020=)
c.3030C>T (p.His1010=)
c.2547C>T (p.His849=)
c.2442C>T (p.His814=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284984_122284985delinsACCA2573136468CASRc.2799_2800delinsAC (p.His933_Glu934delinsGlnGln)
c.3060_3061delinsAC (p.His1020_Glu1021delinsGlnGln)
c.3030_3031delinsAC (p.His1010_Glu1011delinsGlnGln)
c.2547_2548delinsAC (p.His849_Glu850delinsGlnGln)
c.2442_2443delinsAC (p.His814_Glu815delinsGlnGln)
 ClinVar dbSNP
3g.122284984_122284985delinsCGCA1397873159CASRc.2799_2800delinsCG (p.His933=)
c.3060_3061delinsCG (p.His1020=)
c.3030_3031delinsCG (p.His1010=)
c.2547_2548delinsCG (p.His849=)
c.2442_2443delinsCG (p.His814=)
3g.122284984_122284985delinsGCCA82749469CASRc.2799_2800delinsGC (p.His933_Glu934delinsGlnGln)
c.3060_3061delinsGC (p.His1020_Glu1021delinsGlnGln)
c.3030_3031delinsGC (p.His1010_Glu1011delinsGlnGln)
c.2547_2548delinsGC (p.His849_Glu850delinsGlnGln)
c.2442_2443delinsGC (p.His814_Glu815delinsGlnGln)
 dbSNP
3g.122284985G>ACA354161296CASRc.2800G>A (p.Glu934Lys)
c.3061G>A (p.Glu1021Lys)
c.3031G>A (p.Glu1011Lys)
c.2548G>A (p.Glu850Lys)
c.2443G>A (p.Glu815Lys)
 dbSNP
3g.122284985G>CCA179846CASRc.2800G>C (p.Glu934Gln)
c.3061G>C (p.Glu1021Gln)
c.3031G>C (p.Glu1011Gln)
c.2548G>C (p.Glu850Gln)
c.2443G>C (p.Glu815Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284985G=CA10582124CASRc.2800G= (p.Glu934=)
c.3061G= (p.Glu1021=)
c.3031G= (p.Glu1011=)
c.2548G= (p.Glu850=)
c.2443G= (p.Glu815=)
3g.122284985G>TCA354161297CASRc.2800G>T (p.Glu934Ter)
c.3061G>T (p.Glu1021Ter)
c.3031G>T (p.Glu1011Ter)
c.2548G>T (p.Glu850Ter)
c.2443G>T (p.Glu815Ter)
3g.122284985_122284986insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACCCA1052945246CASRc.2800_2801insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu934AlafsTer14)
c.3061_3062insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu1021AlafsTer14)
c.3031_3032insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu1011AlafsTer14)
c.3031_3032insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Gln1011ProfsTer14)
c.3061_3062insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Gln1021ProfsTer14)
c.2548_2549insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu850AlafsTer14)
c.2443_2444insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu815AlafsTer14)
 gnomAD v3 gnomAD v4
3g.122284986A>CCA354161298CASRc.2801A>C (p.Glu934Ala)
c.3062A>C (p.Glu1021Ala)
c.3032A>C (p.Glu1011Ala)
c.3032A>C (p.Gln1011Pro)
c.3062A>C (p.Gln1021Pro)
c.2549A>C (p.Glu850Ala)
c.2444A>C (p.Glu815Ala)
3g.122284986A>GCA354161299CASRc.2801A>G (p.Glu934Gly)
c.3062A>G (p.Glu1021Gly)
c.3032A>G (p.Glu1011Gly)
c.3032A>G (p.Gln1011Arg)
c.3062A>G (p.Gln1021Arg)
c.2549A>G (p.Glu850Gly)
c.2444A>G (p.Glu815Gly)
3g.122284986A>TCA354161300CASRc.2801A>T (p.Glu934Val)
c.3062A>T (p.Glu1021Val)
c.3032A>T (p.Glu1011Val)
c.3032A>T (p.Gln1011Leu)
c.3062A>T (p.Gln1021Leu)
c.2549A>T (p.Glu850Val)
c.2444A>T (p.Glu815Val)
3g.122284987G>ACA435425553CASRc.2802G>A (p.Glu934=)
c.3063G>A (p.Glu1021=)
c.3033G>A (p.Glu1011=)
c.3033G>A (p.Gln1011=)
c.3063G>A (p.Gln1021=)
c.2550G>A (p.Glu850=)
c.2445G>A (p.Glu815=)
 ClinVar
3g.122284987G>CCA354161301CASRc.2802G>C (p.Glu934Asp)
c.3063G>C (p.Glu1021Asp)
c.3033G>C (p.Glu1011Asp)
c.3033G>C (p.Gln1011His)
c.3063G>C (p.Gln1021His)
c.2550G>C (p.Glu850Asp)
c.2445G>C (p.Glu815Asp)
3g.122284987G>TCA354161302CASRc.2802G>T (p.Glu934Asp)
c.3063G>T (p.Glu1021Asp)
c.3033G>T (p.Glu1011Asp)
c.3033G>T (p.Gln1011His)
c.3063G>T (p.Gln1021His)
c.2550G>T (p.Glu850Asp)
c.2445G>T (p.Glu815Asp)
3g.122284988C>ACA2569918CASRc.2803C>A (p.Pro935Thr)
c.3064C>A (p.Pro1022Thr)
c.3034C>A (p.Pro1012Thr)
c.2551C>A (p.Pro851Thr)
c.2446C>A (p.Pro816Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122284988C=CA1397873163CASRc.2803C= (p.Pro935=)
c.3064C= (p.Pro1022=)
c.3034C= (p.Pro1012=)
c.2551C= (p.Pro851=)
c.2446C= (p.Pro816=)
3g.122284988C>GCA354161303CASRc.2803C>G (p.Pro935Ala)
c.3064C>G (p.Pro1022Ala)
c.3034C>G (p.Pro1012Ala)
c.2551C>G (p.Pro851Ala)
c.2446C>G (p.Pro816Ala)
 ClinVar
3g.122284988C>TCA354161304CASRc.2803C>T (p.Pro935Ser)
c.3064C>T (p.Pro1022Ser)
c.3034C>T (p.Pro1012Ser)
c.2551C>T (p.Pro851Ser)
c.2446C>T (p.Pro816Ser)
3g.122284989C>ACA354161306CASRc.2804C>A (p.Pro935Gln)
c.3065C>A (p.Pro1022Gln)
c.3035C>A (p.Pro1012Gln)
c.2552C>A (p.Pro851Gln)
c.2447C>A (p.Pro816Gln)
 ClinVar dbSNP
3g.122284989C=CA1397873165CASRc.2804C= (p.Pro935=)
c.3065C= (p.Pro1022=)
c.3035C= (p.Pro1012=)
c.2552C= (p.Pro851=)
c.2447C= (p.Pro816=)
3g.122284989C>GCA354161307CASRc.2804C>G (p.Pro935Arg)
c.3065C>G (p.Pro1022Arg)
c.3035C>G (p.Pro1012Arg)
c.2552C>G (p.Pro851Arg)
c.2447C>G (p.Pro816Arg)
3g.122284989C>TCA354161305CASRc.2804C>T (p.Pro935Leu)
c.3065C>T (p.Pro1022Leu)
c.3035C>T (p.Pro1012Leu)
c.2552C>T (p.Pro851Leu)
c.2447C>T (p.Pro816Leu)
3g.122284990A=CA1397873167CASRc.2805A= (p.Pro935=)
c.3066A= (p.Pro1022=)
c.3036A= (p.Pro1012=)
c.2553A= (p.Pro851=)
c.2448A= (p.Pro816=)
3g.122284990A>CCA435425554CASRc.2805A>C (p.Pro935=)
c.3066A>C (p.Pro1022=)
c.3036A>C (p.Pro1012=)
c.2553A>C (p.Pro851=)
c.2448A>C (p.Pro816=)
3g.122284990A>GCA435425555CASRc.2805A>G (p.Pro935=)
c.3066A>G (p.Pro1022=)
c.3036A>G (p.Pro1012=)
c.2553A>G (p.Pro851=)
c.2448A>G (p.Pro816=)
 ClinVar dbSNP gnomAD v2
3g.122284990A>TCA435425556CASRc.2805A>T (p.Pro935=)
c.3066A>T (p.Pro1022=)
c.3036A>T (p.Pro1012=)
c.2553A>T (p.Pro851=)
c.2448A>T (p.Pro816=)
3g.122284991T>ACA354161308CASRc.2806T>A (p.Leu936Ile)
c.3067T>A (p.Leu1023Ile)
c.3037T>A (p.Leu1013Ile)
c.2554T>A (p.Leu852Ile)
c.2449T>A (p.Leu817Ile)
3g.122284991T>CCA435425557CASRc.2806T>C (p.Leu936=)
c.3067T>C (p.Leu1023=)
c.3037T>C (p.Leu1013=)
c.2554T>C (p.Leu852=)
c.2449T>C (p.Leu817=)
3g.122284991T>GCA354161309CASRc.2806T>G (p.Leu936Val)
c.3067T>G (p.Leu1023Val)
c.3037T>G (p.Leu1013Val)
c.2554T>G (p.Leu852Val)
c.2449T>G (p.Leu817Val)
3g.122284992T>ACA354161310CASRc.2807T>A (p.Leu936Ter)
c.3068T>A (p.Leu1023Ter)
c.3038T>A (p.Leu1013Ter)
c.2555T>A (p.Leu852Ter)
c.2450T>A (p.Leu817Ter)
3g.122284992T>CCA2569919CASRc.2807T>C (p.Leu936Ser)
c.3068T>C (p.Leu1023Ser)
c.3038T>C (p.Leu1013Ser)
c.2555T>C (p.Leu852Ser)
c.2450T>C (p.Leu817Ser)
 dbSNP ExAC gnomAD v2
3g.122284992T>GCA354161311CASRc.2807T>G (p.Leu936Ter)
c.3068T>G (p.Leu1023Ter)
c.3038T>G (p.Leu1013Ter)
c.2555T>G (p.Leu852Ter)
c.2450T>G (p.Leu817Ter)
3g.122284992T=CA1397873168CASRc.2807T= (p.Leu936=)
c.3068T= (p.Leu1023=)
c.3038T= (p.Leu1013=)
c.2555T= (p.Leu852=)
c.2450T= (p.Leu817=)
3g.122284993A>CCA354161312CASRc.2808A>C (p.Leu936Phe)
c.3069A>C (p.Leu1023Phe)
c.3039A>C (p.Leu1013Phe)
c.2556A>C (p.Leu852Phe)
c.2451A>C (p.Leu817Phe)
3g.122284993A>GCA435425558CASRc.2808A>G (p.Leu936=)
c.3069A>G (p.Leu1023=)
c.3039A>G (p.Leu1013=)
c.2556A>G (p.Leu852=)
c.2451A>G (p.Leu817=)
3g.122284993A>TCA354161313CASRc.2808A>T (p.Leu936Phe)
c.3069A>T (p.Leu1023Phe)
c.3039A>T (p.Leu1013Phe)
c.2556A>T (p.Leu852Phe)
c.2451A>T (p.Leu817Phe)
3g.122284994C>ACA2569920CASRc.2809C>A (p.Leu937Ile)
c.3070C>A (p.Leu1024Ile)
c.3040C>A (p.Leu1014Ile)
c.2557C>A (p.Leu853Ile)
c.2452C>A (p.Leu818Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284994C=CA1397873170CASRc.2809C= (p.Leu937=)
c.3070C= (p.Leu1024=)
c.3040C= (p.Leu1014=)
c.2557C= (p.Leu853=)
c.2452C= (p.Leu818=)
3g.122284994C>GCA354161314CASRc.2809C>G (p.Leu937Val)
c.3070C>G (p.Leu1024Val)
c.3040C>G (p.Leu1014Val)
c.2557C>G (p.Leu853Val)
c.2452C>G (p.Leu818Val)
3g.122284994C>TCA82749487CASRc.2809C>T (p.Leu937Phe)
c.3070C>T (p.Leu1024Phe)
c.3040C>T (p.Leu1014Phe)
c.2557C>T (p.Leu853Phe)
c.2452C>T (p.Leu818Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122284995T>ACA354161315CASRc.2810T>A (p.Leu937His)
c.3071T>A (p.Leu1024His)
c.3041T>A (p.Leu1014His)
c.2558T>A (p.Leu853His)
c.2453T>A (p.Leu818His)
3g.122284995T>CCA354161316CASRc.2810T>C (p.Leu937Pro)
c.3071T>C (p.Leu1024Pro)
c.3041T>C (p.Leu1014Pro)
c.2558T>C (p.Leu853Pro)
c.2453T>C (p.Leu818Pro)
 ClinVar
3g.122284995T>GCA354161317CASRc.2810T>G (p.Leu937Arg)
c.3071T>G (p.Leu1024Arg)
c.3041T>G (p.Leu1014Arg)
c.2558T>G (p.Leu853Arg)
c.2453T>G (p.Leu818Arg)
3g.122284995_122284996delinsTCCA1397873171CASRc.2810_2811delinsTC (p.Leu937=)
c.3071_3072delinsTC (p.Leu1024=)
c.3041_3042delinsTC (p.Leu1014=)
c.2558_2559delinsTC (p.Leu853=)
c.2453_2454delinsTC (p.Leu818=)
3g.122284996C>ACA435425559CASRc.2811C>A (p.Leu937=)
c.3072C>A (p.Leu1024=)
c.3042C>A (p.Leu1014=)
c.2559C>A (p.Leu853=)
c.2454C>A (p.Leu818=)
 ClinVar dbSNP
3g.122284996C=CA1397873176CASRc.2811C= (p.Leu937=)
c.3072C= (p.Leu1024=)
c.3042C= (p.Leu1014=)
c.2559C= (p.Leu853=)
c.2454C= (p.Leu818=)
3g.122284996C>GCA435425560CASRc.2811C>G (p.Leu937=)
c.3072C>G (p.Leu1024=)
c.3042C>G (p.Leu1014=)
c.2559C>G (p.Leu853=)
c.2454C>G (p.Leu818=)
 ClinVar dbSNP
3g.122284996C>TCA435425561CASRc.2811C>T (p.Leu937=)
c.3072C>T (p.Leu1024=)
c.3042C>T (p.Leu1014=)
c.2559C>T (p.Leu853=)
c.2454C>T (p.Leu818=)
 ClinVar dbSNP gnomAD v4
3g.122284998delCA916082597CASRc.2813del (p.Pro938ArgfsTer9)
c.3074del (p.Pro1025ArgfsTer9)
c.3044del (p.Pro1015ArgfsTer9)
c.2561del (p.Pro854ArgfsTer9)
c.2456del (p.Pro819ArgfsTer9)
 ClinVar dbSNP gnomAD v4
3g.122284997C>ACA354161320CASRc.2812C>A (p.Pro938Thr)
c.3073C>A (p.Pro1025Thr)
c.3043C>A (p.Pro1015Thr)
c.2560C>A (p.Pro854Thr)
c.2455C>A (p.Pro819Thr)
3g.122284997C>GCA354161319CASRc.2812C>G (p.Pro938Ala)
c.3073C>G (p.Pro1025Ala)
c.3043C>G (p.Pro1015Ala)
c.2560C>G (p.Pro854Ala)
c.2455C>G (p.Pro819Ala)
3g.122284997C>TCA354161318CASRc.2812C>T (p.Pro938Ser)
c.3073C>T (p.Pro1025Ser)
c.3043C>T (p.Pro1015Ser)
c.2560C>T (p.Pro854Ser)
c.2455C>T (p.Pro819Ser)
3g.122284998C>ACA354161321CASRc.2813C>A (p.Pro938Gln)
c.3074C>A (p.Pro1025Gln)
c.3044C>A (p.Pro1015Gln)
c.2561C>A (p.Pro854Gln)
c.2456C>A (p.Pro819Gln)
3g.122284998C=CA1397873177CASRc.2813C= (p.Pro938=)
c.3074C= (p.Pro1025=)
c.3044C= (p.Pro1015=)
c.2561C= (p.Pro854=)
c.2456C= (p.Pro819=)
3g.122284998C>GCA354161322CASRc.2813C>G (p.Pro938Arg)
c.3074C>G (p.Pro1025Arg)
c.3044C>G (p.Pro1015Arg)
c.2561C>G (p.Pro854Arg)
c.2456C>G (p.Pro819Arg)
3g.122284998C>TCA2569921CASRc.2813C>T (p.Pro938Leu)
c.3074C>T (p.Pro1025Leu)
c.3044C>T (p.Pro1015Leu)
c.2561C>T (p.Pro854Leu)
c.2456C>T (p.Pro819Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122284999G>ACA2569922CASRc.2814G>A (p.Pro938=)
c.3075G>A (p.Pro1025=)
c.3045G>A (p.Pro1015=)
c.2562G>A (p.Pro854=)
c.2457G>A (p.Pro819=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122284999G>CCA435425563CASRc.2814G>C (p.Pro938=)
c.3075G>C (p.Pro1025=)
c.3045G>C (p.Pro1015=)
c.2562G>C (p.Pro854=)
c.2457G>C (p.Pro819=)
3g.122284999G=CA1397873179CASRc.2814G= (p.Pro938=)
c.3075G= (p.Pro1025=)
c.3045G= (p.Pro1015=)
c.2562G= (p.Pro854=)
c.2457G= (p.Pro819=)
3g.122284999G>TCA435425562CASRc.2814G>T (p.Pro938=)
c.3075G>T (p.Pro1025=)
c.3045G>T (p.Pro1015=)
c.2562G>T (p.Pro854=)
c.2457G>T (p.Pro819=)
 ClinVar

Number of alleles fetched