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.122285047T>ACA435425591CASRc.2862T>A (p.Gly954=)
c.3123T>A (p.Gly1041=)
c.3093T>A (p.Gly1031=)
c.2610T>A (p.Gly870=)
c.2505T>A (p.Gly835=)
ClinVar
3g.122285047T>CCA435425592CASRc.2862T>C (p.Gly954=)
c.3123T>C (p.Gly1041=)
c.3093T>C (p.Gly1031=)
c.2610T>C (p.Gly870=)
c.2505T>C (p.Gly835=)
ClinVar dbSNP
3g.122285047T>GCA435425593CASRc.2862T>G (p.Gly954=)
c.3123T>G (p.Gly1041=)
c.3093T>G (p.Gly1031=)
c.2610T>G (p.Gly870=)
c.2505T>G (p.Gly835=)
3g.122285047T=CA1397873228CASRc.2862T= (p.Gly954=)
c.3123T= (p.Gly1041=)
c.3093T= (p.Gly1031=)
c.2610T= (p.Gly870=)
c.2505T= (p.Gly835=)
3g.122285048C>ACA354161422CASRc.2863C>A (p.Leu955Met)
c.3124C>A (p.Leu1042Met)
c.3094C>A (p.Leu1032Met)
c.2611C>A (p.Leu871Met)
c.2506C>A (p.Leu836Met)
3g.122285048C>GCA354161421CASRc.2863C>G (p.Leu955Val)
c.3124C>G (p.Leu1042Val)
c.3094C>G (p.Leu1032Val)
c.2611C>G (p.Leu871Val)
c.2506C>G (p.Leu836Val)
3g.122285048C>TCA435425594CASRc.2863C>T (p.Leu955=)
c.3124C>T (p.Leu1042=)
c.3094C>T (p.Leu1032=)
c.2611C>T (p.Leu871=)
c.2506C>T (p.Leu836=)
3g.122285049T>ACA354161423CASRc.2864T>A (p.Leu955Gln)
c.3125T>A (p.Leu1042Gln)
c.3095T>A (p.Leu1032Gln)
c.2612T>A (p.Leu871Gln)
c.2507T>A (p.Leu836Gln)
3g.122285049T>CCA354161424CASRc.2864T>C (p.Leu955Pro)
c.3125T>C (p.Leu1042Pro)
c.3095T>C (p.Leu1032Pro)
c.2612T>C (p.Leu871Pro)
c.2507T>C (p.Leu836Pro)
3g.122285049T>GCA354161425CASRc.2864T>G (p.Leu955Arg)
c.3125T>G (p.Leu1042Arg)
c.3095T>G (p.Leu1032Arg)
c.2612T>G (p.Leu871Arg)
c.2507T>G (p.Leu836Arg)
gnomAD v4 COSMIC
3g.122285050G>ACA435425595CASRc.2865G>A (p.Leu955=)
c.3126G>A (p.Leu1042=)
c.3096G>A (p.Leu1032=)
c.2613G>A (p.Leu871=)
c.2508G>A (p.Leu836=)
ClinVar
3g.122285050G>CCA435425596CASRc.2865G>C (p.Leu955=)
c.3126G>C (p.Leu1042=)
c.3096G>C (p.Leu1032=)
c.2613G>C (p.Leu871=)
c.2508G>C (p.Leu836=)
3g.122285050G>TCA435425597CASRc.2865G>T (p.Leu955=)
c.3126G>T (p.Leu1042=)
c.3096G>T (p.Leu1032=)
c.2613G>T (p.Leu871=)
c.2508G>T (p.Leu836=)
ClinVar dbSNP
3g.122285051C>ACA354161426CASRc.2866C>A (p.Gln956Lys)
c.3127C>A (p.Gln1043Lys)
c.3097C>A (p.Gln1033Lys)
c.2614C>A (p.Gln872Lys)
c.2509C>A (p.Gln837Lys)
3g.122285051C>GCA354161427CASRc.2866C>G (p.Gln956Glu)
c.3127C>G (p.Gln1043Glu)
c.3097C>G (p.Gln1033Glu)
c.2614C>G (p.Gln872Glu)
c.2509C>G (p.Gln837Glu)
3g.122285051C>TCA354161428CASRc.2866C>T (p.Gln956Ter)
c.3127C>T (p.Gln1043Ter)
c.3097C>T (p.Gln1033Ter)
c.2614C>T (p.Gln872Ter)
c.2509C>T (p.Gln837Ter)
3g.122285052A>CCA354161429CASRc.2867A>C (p.Gln956Pro)
c.3128A>C (p.Gln1043Pro)
c.3098A>C (p.Gln1033Pro)
c.2615A>C (p.Gln872Pro)
c.2510A>C (p.Gln837Pro)
3g.122285052A>GCA354161431CASRc.2867A>G (p.Gln956Arg)
c.3128A>G (p.Gln1043Arg)
c.3098A>G (p.Gln1033Arg)
c.2615A>G (p.Gln872Arg)
c.2510A>G (p.Gln837Arg)
3g.122285052A>TCA354161430CASRc.2867A>T (p.Gln956Leu)
c.3128A>T (p.Gln1043Leu)
c.3098A>T (p.Gln1033Leu)
c.2615A>T (p.Gln872Leu)
c.2510A>T (p.Gln837Leu)
3g.122285053A>CCA354161432CASRc.2868A>C (p.Gln956His)
c.3129A>C (p.Gln1043His)
c.3099A>C (p.Gln1033His)
c.2616A>C (p.Gln872His)
c.2511A>C (p.Gln837His)
3g.122285053A>GCA435425598CASRc.2868A>G (p.Gln956=)
c.3129A>G (p.Gln1043=)
c.3099A>G (p.Gln1033=)
c.2616A>G (p.Gln872=)
c.2511A>G (p.Gln837=)
3g.122285053A>TCA354161433CASRc.2868A>T (p.Gln956His)
c.3129A>T (p.Gln1043His)
c.3099A>T (p.Gln1033His)
c.2616A>T (p.Gln872His)
c.2511A>T (p.Gln837His)
3g.122285054G>ACA354161434CASRc.2869G>A (p.Gly957Arg)
c.3130G>A (p.Gly1044Arg)
c.3100G>A (p.Gly1034Arg)
c.2617G>A (p.Gly873Arg)
c.2512G>A (p.Gly838Arg)
ClinVar
3g.122285054G>CCA354161435CASRc.2869G>C (p.Gly957Arg)
c.3130G>C (p.Gly1044Arg)
c.3100G>C (p.Gly1034Arg)
c.2617G>C (p.Gly873Arg)
c.2512G>C (p.Gly838Arg)
3g.122285054G>TCA354161436CASRc.2869G>T (p.Gly957Ter)
c.3130G>T (p.Gly1044Ter)
c.3100G>T (p.Gly1034Ter)
c.2617G>T (p.Gly873Ter)
c.2512G>T (p.Gly838Ter)
3g.122285055G>ACA354161437CASRc.2870G>A (p.Gly957Glu)
c.3131G>A (p.Gly1044Glu)
c.3101G>A (p.Gly1034Glu)
c.2618G>A (p.Gly873Glu)
c.2513G>A (p.Gly838Glu)
COSMIC
3g.122285055G>CCA354161438CASRc.2870G>C (p.Gly957Ala)
c.3131G>C (p.Gly1044Ala)
c.3101G>C (p.Gly1034Ala)
c.2618G>C (p.Gly873Ala)
c.2513G>C (p.Gly838Ala)
3g.122285055G>TCA354161439CASRc.2870G>T (p.Gly957Val)
c.3131G>T (p.Gly1044Val)
c.3101G>T (p.Gly1034Val)
c.2618G>T (p.Gly873Val)
c.2513G>T (p.Gly838Val)
ClinVar
3g.122285056A>CCA435425599CASRc.2871A>C (p.Gly957=)
c.3132A>C (p.Gly1044=)
c.3102A>C (p.Gly1034=)
c.2619A>C (p.Gly873=)
c.2514A>C (p.Gly838=)
3g.122285056A>GCA435425600CASRc.2871A>G (p.Gly957=)
c.3132A>G (p.Gly1044=)
c.3102A>G (p.Gly1034=)
c.2619A>G (p.Gly873=)
c.2514A>G (p.Gly838=)
3g.122285056A>TCA435425601CASRc.2871A>T (p.Gly957=)
c.3132A>T (p.Gly1044=)
c.3102A>T (p.Gly1034=)
c.2619A>T (p.Gly873=)
c.2514A>T (p.Gly838=)
3g.122285057C>ACA354161440CASRc.2872C>A (p.Pro958Thr)
c.3133C>A (p.Pro1045Thr)
c.3103C>A (p.Pro1035Thr)
c.2620C>A (p.Pro874Thr)
c.2515C>A (p.Pro839Thr)
3g.122285057C=CA1397873230CASRc.2872C= (p.Pro958=)
c.3133C= (p.Pro1045=)
c.3103C= (p.Pro1035=)
c.2620C= (p.Pro874=)
c.2515C= (p.Pro839=)
3g.122285057C>GCA354161441CASRc.2872C>G (p.Pro958Ala)
c.3133C>G (p.Pro1045Ala)
c.3103C>G (p.Pro1035Ala)
c.2620C>G (p.Pro874Ala)
c.2515C>G (p.Pro839Ala)
3g.122285057C>TCA2569932CASRc.2872C>T (p.Pro958Ser)
c.3133C>T (p.Pro1045Ser)
c.3103C>T (p.Pro1035Ser)
c.2620C>T (p.Pro874Ser)
c.2515C>T (p.Pro839Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122285058delCA2586972878CASRc.2873del (p.Pro958LeufsTer21)
c.3134del (p.Pro1045LeufsTer21)
c.3104del (p.Pro1035LeufsTer21)
c.2621del (p.Pro874LeufsTer21)
c.2516del (p.Pro839LeufsTer21)
3g.122285058C>ACA354161444CASRc.2873C>A (p.Pro958His)
c.3134C>A (p.Pro1045His)
c.3104C>A (p.Pro1035His)
c.2621C>A (p.Pro874His)
c.2516C>A (p.Pro839His)
ClinVar gnomAD v4
3g.122285058C=CA1397873232CASRc.2873C= (p.Pro958=)
c.3134C= (p.Pro1045=)
c.3104C= (p.Pro1035=)
c.2621C= (p.Pro874=)
c.2516C= (p.Pro839=)
3g.122285058C>GCA354161443CASRc.2873C>G (p.Pro958Arg)
c.3134C>G (p.Pro1045Arg)
c.3104C>G (p.Pro1035Arg)
c.2621C>G (p.Pro874Arg)
c.2516C>G (p.Pro839Arg)
dbSNP gnomAD v2 gnomAD v4
3g.122285058C>TCA354161442CASRc.2873C>T (p.Pro958Leu)
c.3134C>T (p.Pro1045Leu)
c.3104C>T (p.Pro1035Leu)
c.2621C>T (p.Pro874Leu)
c.2516C>T (p.Pro839Leu)
gnomAD v4
3g.122285059T>ACA435425602CASRc.2874T>A (p.Pro958=)
c.3135T>A (p.Pro1045=)
c.3105T>A (p.Pro1035=)
c.2622T>A (p.Pro874=)
c.2517T>A (p.Pro839=)
3g.122285059T>CCA435425603CASRc.2874T>C (p.Pro958=)
c.3135T>C (p.Pro1045=)
c.3105T>C (p.Pro1035=)
c.2622T>C (p.Pro874=)
c.2517T>C (p.Pro839=)
3g.122285059T>GCA435425604CASRc.2874T>G (p.Pro958=)
c.3135T>G (p.Pro1045=)
c.3105T>G (p.Pro1035=)
c.2622T>G (p.Pro874=)
c.2517T>G (p.Pro839=)
3g.122285060G>ACA354161445CASRc.2875G>A (p.Val959Met)
c.3136G>A (p.Val1046Met)
c.3106G>A (p.Val1036Met)
c.2623G>A (p.Val875Met)
c.2518G>A (p.Val840Met)
ClinVar
3g.122285060G>CCA354161447CASRc.2875G>C (p.Val959Leu)
c.3136G>C (p.Val1046Leu)
c.3106G>C (p.Val1036Leu)
c.2623G>C (p.Val875Leu)
c.2518G>C (p.Val840Leu)
3g.122285060G>TCA354161446CASRc.2875G>T (p.Val959Leu)
c.3136G>T (p.Val1046Leu)
c.3106G>T (p.Val1036Leu)
c.2623G>T (p.Val875Leu)
c.2518G>T (p.Val840Leu)
3g.122285061T>ACA354161448CASRc.2876T>A (p.Val959Glu)
c.3137T>A (p.Val1046Glu)
c.3107T>A (p.Val1036Glu)
c.2624T>A (p.Val875Glu)
c.2519T>A (p.Val840Glu)
3g.122285061T>CCA216136CASRc.2876T>C (p.Val959Ala)
c.3137T>C (p.Val1046Ala)
c.3107T>C (p.Val1036Ala)
c.2624T>C (p.Val875Ala)
c.2519T>C (p.Val840Ala)
ClinVar dbSNP gnomAD v4
3g.122285061T>GCA354161449CASRc.2876T>G (p.Val959Gly)
c.3137T>G (p.Val1046Gly)
c.3107T>G (p.Val1036Gly)
c.2624T>G (p.Val875Gly)
c.2519T>G (p.Val840Gly)
3g.122285061T=CA1397873234CASRc.2876T= (p.Val959=)
c.3137T= (p.Val1046=)
c.3107T= (p.Val1036=)
c.2624T= (p.Val875=)
c.2519T= (p.Val840=)
3g.122285062G>ACA435425605CASRc.2877G>A (p.Val959=)
c.3138G>A (p.Val1046=)
c.3108G>A (p.Val1036=)
c.2625G>A (p.Val875=)
c.2520G>A (p.Val840=)
ClinVar gnomAD v4
3g.122285062G>CCA435425606CASRc.2877G>C (p.Val959=)
c.3138G>C (p.Val1046=)
c.3108G>C (p.Val1036=)
c.2625G>C (p.Val875=)
c.2520G>C (p.Val840=)
3g.122285062G>TCA435425607CASRc.2877G>T (p.Val959=)
c.3138G>T (p.Val1046=)
c.3108G>T (p.Val1036=)
c.2625G>T (p.Val875=)
c.2520G>T (p.Val840=)
3g.122285063G>ACA354161450CASRc.2878G>A (p.Gly960Ser)
c.3139G>A (p.Gly1047Ser)
c.3109G>A (p.Gly1037Ser)
c.2626G>A (p.Gly876Ser)
c.2521G>A (p.Gly841Ser)
3g.122285063G>CCA354161451CASRc.2878G>C (p.Gly960Arg)
c.3139G>C (p.Gly1047Arg)
c.3109G>C (p.Gly1037Arg)
c.2626G>C (p.Gly876Arg)
c.2521G>C (p.Gly841Arg)
3g.122285063G>TCA354161452CASRc.2878G>T (p.Gly960Cys)
c.3139G>T (p.Gly1047Cys)
c.3109G>T (p.Gly1037Cys)
c.2626G>T (p.Gly876Cys)
c.2521G>T (p.Gly841Cys)
gnomAD v4
3g.122285064G>ACA354161453CASRc.2879G>A (p.Gly960Asp)
c.3140G>A (p.Gly1047Asp)
c.3110G>A (p.Gly1037Asp)
c.2627G>A (p.Gly876Asp)
c.2522G>A (p.Gly841Asp)
3g.122285064G>CCA354161454CASRc.2879G>C (p.Gly960Ala)
c.3140G>C (p.Gly1047Ala)
c.3110G>C (p.Gly1037Ala)
c.2627G>C (p.Gly876Ala)
c.2522G>C (p.Gly841Ala)
3g.122285064G=CA1397873237CASRc.2879G= (p.Gly960=)
c.3140G= (p.Gly1047=)
c.3110G= (p.Gly1037=)
c.2627G= (p.Gly876=)
c.2522G= (p.Gly841=)
3g.122285064G>TCA354161455CASRc.2879G>T (p.Gly960Val)
c.3140G>T (p.Gly1047Val)
c.3110G>T (p.Gly1037Val)
c.2627G>T (p.Gly876Val)
c.2522G>T (p.Gly841Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122285065T>ACA435425608CASRc.2880T>A (p.Gly960=)
c.3141T>A (p.Gly1047=)
c.3111T>A (p.Gly1037=)
c.2628T>A (p.Gly876=)
c.2523T>A (p.Gly841=)
3g.122285065T>CCA435425609CASRc.2880T>C (p.Gly960=)
c.3141T>C (p.Gly1047=)
c.3111T>C (p.Gly1037=)
c.2628T>C (p.Gly876=)
c.2523T>C (p.Gly841=)
3g.122285065T>GCA435425610CASRc.2880T>G (p.Gly960=)
c.3141T>G (p.Gly1047=)
c.3111T>G (p.Gly1037=)
c.2628T>G (p.Gly876=)
c.2523T>G (p.Gly841=)
3g.122285066G>ACA2569933CASRc.2881G>A (p.Gly961Arg)
c.3142G>A (p.Gly1048Arg)
c.3112G>A (p.Gly1038Arg)
c.2629G>A (p.Gly877Arg)
c.2524G>A (p.Gly842Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122285066G>CCA354161456CASRc.2881G>C (p.Gly961Arg)
c.3142G>C (p.Gly1048Arg)
c.3112G>C (p.Gly1038Arg)
c.2629G>C (p.Gly877Arg)
c.2524G>C (p.Gly842Arg)
3g.122285066G=CA1397873239CASRc.2881G= (p.Gly961=)
c.3142G= (p.Gly1048=)
c.3112G= (p.Gly1038=)
c.2629G= (p.Gly877=)
c.2524G= (p.Gly842=)
3g.122285066G>TCA354161457CASRc.2881G>T (p.Gly961Ter)
c.3142G>T (p.Gly1048Ter)
c.3112G>T (p.Gly1038Ter)
c.2629G>T (p.Gly877Ter)
c.2524G>T (p.Gly842Ter)
ClinVar dbSNP gnomAD v4
3g.122285067G>ACA354161458CASRc.2882G>A (p.Gly961Glu)
c.3143G>A (p.Gly1048Glu)
c.3113G>A (p.Gly1038Glu)
c.2630G>A (p.Gly877Glu)
c.2525G>A (p.Gly842Glu)
3g.122285067G>CCA354161459CASRc.2882G>C (p.Gly961Ala)
c.3143G>C (p.Gly1048Ala)
c.3113G>C (p.Gly1038Ala)
c.2630G>C (p.Gly877Ala)
c.2525G>C (p.Gly842Ala)
3g.122285067G>TCA354161460CASRc.2882G>T (p.Gly961Val)
c.3143G>T (p.Gly1048Val)
c.3113G>T (p.Gly1038Val)
c.2630G>T (p.Gly877Val)
c.2525G>T (p.Gly842Val)
3g.122285068A>CCA435425611CASRc.2883A>C (p.Gly961=)
c.3144A>C (p.Gly1048=)
c.3114A>C (p.Gly1038=)
c.2631A>C (p.Gly877=)
c.2526A>C (p.Gly842=)
3g.122285068A>GCA435425612CASRc.2883A>G (p.Gly961=)
c.3144A>G (p.Gly1048=)
c.3114A>G (p.Gly1038=)
c.2631A>G (p.Gly877=)
c.2526A>G (p.Gly842=)
ClinVar dbSNP
3g.122285068A>TCA435425613CASRc.2883A>T (p.Gly961=)
c.3144A>T (p.Gly1048=)
c.3114A>T (p.Gly1038=)
c.2631A>T (p.Gly877=)
c.2526A>T (p.Gly842=)
3g.122285069G>ACA354161463CASRc.2884G>A (p.Asp962Asn)
c.3145G>A (p.Asp1049Asn)
c.3115G>A (p.Asp1039Asn)
c.2632G>A (p.Asp878Asn)
c.2527G>A (p.Asp843Asn)
3g.122285069G>CCA354161461CASRc.2884G>C (p.Asp962His)
c.3145G>C (p.Asp1049His)
c.3115G>C (p.Asp1039His)
c.2632G>C (p.Asp878His)
c.2527G>C (p.Asp843His)
dbSNP gnomAD v2
3g.122285069G=CA1397873241CASRc.2884G= (p.Asp962=)
c.3145G= (p.Asp1049=)
c.3115G= (p.Asp1039=)
c.2632G= (p.Asp878=)
c.2527G= (p.Asp843=)
3g.122285069G>TCA354161462CASRc.2884G>T (p.Asp962Tyr)
c.3145G>T (p.Asp1049Tyr)
c.3115G>T (p.Asp1039Tyr)
c.2632G>T (p.Asp878Tyr)
c.2527G>T (p.Asp843Tyr)
3g.122285070A>CCA354161464CASRc.2885A>C (p.Asp962Ala)
c.3146A>C (p.Asp1049Ala)
c.3116A>C (p.Asp1039Ala)
c.2633A>C (p.Asp878Ala)
c.2528A>C (p.Asp843Ala)
3g.122285070A>GCA354161465CASRc.2885A>G (p.Asp962Gly)
c.3146A>G (p.Asp1049Gly)
c.3116A>G (p.Asp1039Gly)
c.2633A>G (p.Asp878Gly)
c.2528A>G (p.Asp843Gly)
3g.122285070A>TCA354161466CASRc.2885A>T (p.Asp962Val)
c.3146A>T (p.Asp1049Val)
c.3116A>T (p.Asp1039Val)
c.2633A>T (p.Asp878Val)
c.2528A>T (p.Asp843Val)
3g.122285071C>ACA354161467CASRc.2886C>A (p.Asp962Glu)
c.3147C>A (p.Asp1049Glu)
c.3117C>A (p.Asp1039Glu)
c.2634C>A (p.Asp878Glu)
c.2529C>A (p.Asp843Glu)
gnomAD v4
3g.122285071C>GCA354161468CASRc.2886C>G (p.Asp962Glu)
c.3147C>G (p.Asp1049Glu)
c.3117C>G (p.Asp1039Glu)
c.2634C>G (p.Asp878Glu)
c.2529C>G (p.Asp843Glu)
ClinVar
3g.122285071C>TCA435425614CASRc.2886C>T (p.Asp962=)
c.3147C>T (p.Asp1049=)
c.3117C>T (p.Asp1039=)
c.2634C>T (p.Asp878=)
c.2529C>T (p.Asp843=)
ClinVar
3g.122285072C>ACA354161469CASRc.2887C>A (p.Gln963Lys)
c.3148C>A (p.Gln1050Lys)
c.3118C>A (p.Gln1040Lys)
c.2635C>A (p.Gln879Lys)
c.2530C>A (p.Gln844Lys)
ClinVar
3g.122285072C=CA1397873243CASRc.2887C= (p.Gln963=)
c.3148C= (p.Gln1050=)
c.3118C= (p.Gln1040=)
c.2635C= (p.Gln879=)
c.2530C= (p.Gln844=)
3g.122285072C>GCA82749561CASRc.2887C>G (p.Gln963Glu)
c.3148C>G (p.Gln1050Glu)
c.3118C>G (p.Gln1040Glu)
c.2635C>G (p.Gln879Glu)
c.2530C>G (p.Gln844Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122285072C>TCA354161470CASRc.2887C>T (p.Gln963Ter)
c.3148C>T (p.Gln1050Ter)
c.3118C>T (p.Gln1040Ter)
c.2635C>T (p.Gln879Ter)
c.2530C>T (p.Gln844Ter)
ClinVar dbSNP gnomAD v4
3g.122285073A>CCA354161472CASRc.2888A>C (p.Gln963Pro)
c.3149A>C (p.Gln1050Pro)
c.3119A>C (p.Gln1040Pro)
c.2636A>C (p.Gln879Pro)
c.2531A>C (p.Gln844Pro)
3g.122285073A>GCA354161474CASRc.2888A>G (p.Gln963Arg)
c.3149A>G (p.Gln1050Arg)
c.3119A>G (p.Gln1040Arg)
c.2636A>G (p.Gln879Arg)
c.2531A>G (p.Gln844Arg)
3g.122285073A>TCA354161475CASRc.2888A>T (p.Gln963Leu)
c.3149A>T (p.Gln1050Leu)
c.3119A>T (p.Gln1040Leu)
c.2636A>T (p.Gln879Leu)
c.2531A>T (p.Gln844Leu)
3g.122285074G>ACA435425615CASRc.2889G>A (p.Gln963=)
c.3150G>A (p.Gln1050=)
c.3120G>A (p.Gln1040=)
c.2637G>A (p.Gln879=)
c.2532G>A (p.Gln844=)
ClinVar
3g.122285074G>CCA354161477CASRc.2889G>C (p.Gln963His)
c.3150G>C (p.Gln1050His)
c.3120G>C (p.Gln1040His)
c.2637G>C (p.Gln879His)
c.2532G>C (p.Gln844His)
3g.122285074G>TCA354161478CASRc.2889G>T (p.Gln963His)
c.3150G>T (p.Gln1050His)
c.3120G>T (p.Gln1040His)
c.2637G>T (p.Gln879His)
c.2532G>T (p.Gln844His)
ClinVar dbSNP
3g.122285075C>ACA435425616CASRc.2890C>A (p.Arg964=)
c.3151C>A (p.Arg1051=)
c.3121C>A (p.Arg1041=)
c.2638C>A (p.Arg880=)
c.2533C>A (p.Arg845=)
ClinVar dbSNP
3g.122285075C=CA1397873245CASRc.2890C= (p.Arg964=)
c.3151C= (p.Arg1051=)
c.3121C= (p.Arg1041=)
c.2638C= (p.Arg880=)
c.2533C= (p.Arg845=)
3g.122285075C>GCA354161480CASRc.2890C>G (p.Arg964Gly)
c.3151C>G (p.Arg1051Gly)
c.3121C>G (p.Arg1041Gly)
c.2638C>G (p.Arg880Gly)
c.2533C>G (p.Arg845Gly)
3g.122285075C>TCA174089CASRc.2890C>T (p.Arg964Trp)
c.3151C>T (p.Arg1051Trp)
c.3121C>T (p.Arg1041Trp)
c.2638C>T (p.Arg880Trp)
c.2533C>T (p.Arg845Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122285076G>ACA2569934CASRc.2891G>A (p.Arg964Gln)
c.3152G>A (p.Arg1051Gln)
c.3122G>A (p.Arg1041Gln)
c.2639G>A (p.Arg880Gln)
c.2534G>A (p.Arg845Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.122285076G>CCA354161484CASRc.2891G>C (p.Arg964Pro)
c.3152G>C (p.Arg1051Pro)
c.3122G>C (p.Arg1041Pro)
c.2639G>C (p.Arg880Pro)
c.2534G>C (p.Arg845Pro)
3g.122285076G=CA1397873247CASRc.2891G= (p.Arg964=)
c.3152G= (p.Arg1051=)
c.3122G= (p.Arg1041=)
c.2639G= (p.Arg880=)
c.2534G= (p.Arg845=)
3g.122285076G>TCA354161486CASRc.2891G>T (p.Arg964Leu)
c.3152G>T (p.Arg1051Leu)
c.3122G>T (p.Arg1041Leu)
c.2639G>T (p.Arg880Leu)
c.2534G>T (p.Arg845Leu)
3g.122285077G>ACA435425619CASRc.2892G>A (p.Arg964=)
c.3153G>A (p.Arg1051=)
c.3123G>A (p.Arg1041=)
c.2640G>A (p.Arg880=)
c.2535G>A (p.Arg845=)
dbSNP gnomAD v4
3g.122285077G>CCA435425618CASRc.2892G>C (p.Arg964=)
c.3153G>C (p.Arg1051=)
c.3123G>C (p.Arg1041=)
c.2640G>C (p.Arg880=)
c.2535G>C (p.Arg845=)
3g.122285077G=CA1397873249CASRc.2892G= (p.Arg964=)
c.3153G= (p.Arg1051=)
c.3123G= (p.Arg1041=)
c.2640G= (p.Arg880=)
c.2535G= (p.Arg845=)
3g.122285077G>TCA435425617CASRc.2892G>T (p.Arg964=)
c.3153G>T (p.Arg1051=)
c.3123G>T (p.Arg1041=)
c.2640G>T (p.Arg880=)
c.2535G>T (p.Arg845=)
3g.122285078C>ACA354161492CASRc.2893C>A (p.Pro965Thr)
c.3154C>A (p.Pro1052Thr)
c.3124C>A (p.Pro1042Thr)
c.2641C>A (p.Pro881Thr)
c.2536C>A (p.Pro846Thr)
3g.122285078C=CA1397873250CASRc.2893C= (p.Pro965=)
c.3154C= (p.Pro1052=)
c.3124C= (p.Pro1042=)
c.2641C= (p.Pro881=)
c.2536C= (p.Pro846=)
3g.122285078C>GCA354161490CASRc.2893C>G (p.Pro965Ala)
c.3154C>G (p.Pro1052Ala)
c.3124C>G (p.Pro1042Ala)
c.2641C>G (p.Pro881Ala)
c.2536C>G (p.Pro846Ala)
ClinVar dbSNP
3g.122285078C>TCA354161488CASRc.2893C>T (p.Pro965Ser)
c.3154C>T (p.Pro1052Ser)
c.3124C>T (p.Pro1042Ser)
c.2641C>T (p.Pro881Ser)
c.2536C>T (p.Pro846Ser)
ClinVar dbSNP gnomAD v4
3g.122285079C>ACA354161494CASRc.2894C>A (p.Pro965Gln)
c.3155C>A (p.Pro1052Gln)
c.3125C>A (p.Pro1042Gln)
c.2642C>A (p.Pro881Gln)
c.2537C>A (p.Pro846Gln)
gnomAD v4
3g.122285079C>GCA354161495CASRc.2894C>G (p.Pro965Arg)
c.3155C>G (p.Pro1052Arg)
c.3125C>G (p.Pro1042Arg)
c.2642C>G (p.Pro881Arg)
c.2537C>G (p.Pro846Arg)
3g.122285079C>TCA354161497CASRc.2894C>T (p.Pro965Leu)
c.3155C>T (p.Pro1052Leu)
c.3125C>T (p.Pro1042Leu)
c.2642C>T (p.Pro881Leu)
c.2537C>T (p.Pro846Leu)
COSMIC
3g.122285080A>CCA435425620CASRc.2895A>C (p.Pro965=)
c.3156A>C (p.Pro1052=)
c.3126A>C (p.Pro1042=)
c.2643A>C (p.Pro881=)
c.2538A>C (p.Pro846=)
3g.122285080A>GCA435425622CASRc.2895A>G (p.Pro965=)
c.3156A>G (p.Pro1052=)
c.3126A>G (p.Pro1042=)
c.2643A>G (p.Pro881=)
c.2538A>G (p.Pro846=)
3g.122285080A>TCA435425621CASRc.2895A>T (p.Pro965=)
c.3156A>T (p.Pro1052=)
c.3126A>T (p.Pro1042=)
c.2643A>T (p.Pro881=)
c.2538A>T (p.Pro846=)
3g.122285081delCA2667224938CASRc.2896del (p.Glu966ArgfsTer13)
c.3157del (p.Glu1053ArgfsTer13)
c.3127del (p.Glu1043ArgfsTer13)
c.2644del (p.Glu882ArgfsTer13)
c.2539del (p.Glu847ArgfsTer13)
gnomAD v4
3g.122285081G>ACA354161499CASRc.2896G>A (p.Glu966Lys)
c.3157G>A (p.Glu1053Lys)
c.3127G>A (p.Glu1043Lys)
c.2644G>A (p.Glu882Lys)
c.2539G>A (p.Glu847Lys)
ClinVar gnomAD v4
3g.122285081G>CCA354161501CASRc.2896G>C (p.Glu966Gln)
c.3157G>C (p.Glu1053Gln)
c.3127G>C (p.Glu1043Gln)
c.2644G>C (p.Glu882Gln)
c.2539G>C (p.Glu847Gln)
3g.122285081G>TCA354161502CASRc.2896G>T (p.Glu966Ter)
c.3157G>T (p.Glu1053Ter)
c.3127G>T (p.Glu1043Ter)
c.2644G>T (p.Glu882Ter)
c.2539G>T (p.Glu847Ter)
3g.122285082A=CA1397873252CASRc.2897A= (p.Glu966=)
c.3158A= (p.Glu1053=)
c.3128A= (p.Glu1043=)
c.2645A= (p.Glu882=)
c.2540A= (p.Glu847=)
3g.122285082A>CCA354161505CASRc.2897A>C (p.Glu966Ala)
c.3158A>C (p.Glu1053Ala)
c.3128A>C (p.Glu1043Ala)
c.2645A>C (p.Glu882Ala)
c.2540A>C (p.Glu847Ala)
3g.122285082A>GCA354161507CASRc.2897A>G (p.Glu966Gly)
c.3158A>G (p.Glu1053Gly)
c.3128A>G (p.Glu1043Gly)
c.2645A>G (p.Glu882Gly)
c.2540A>G (p.Glu847Gly)
3g.122285082A>TCA2569935CASRc.2897A>T (p.Glu966Val)
c.3158A>T (p.Glu1053Val)
c.3128A>T (p.Glu1043Val)
c.2645A>T (p.Glu882Val)
c.2540A>T (p.Glu847Val)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.122285083G>ACA2569936CASRc.2898G>A (p.Glu966=)
c.3159G>A (p.Glu1053=)
c.3129G>A (p.Glu1043=)
c.2646G>A (p.Glu882=)
c.2541G>A (p.Glu847=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122285083G>CCA354161510CASRc.2898G>C (p.Glu966Asp)
c.3159G>C (p.Glu1053Asp)
c.3129G>C (p.Glu1043Asp)
c.2646G>C (p.Glu882Asp)
c.2541G>C (p.Glu847Asp)
3g.122285083G=CA1397873254CASRc.2898G= (p.Glu966=)
c.3159G= (p.Glu1053=)
c.3129G= (p.Glu1043=)
c.2646G= (p.Glu882=)
c.2541G= (p.Glu847=)
3g.122285083G>TCA354161512CASRc.2898G>T (p.Glu966Asp)
c.3159G>T (p.Glu1053Asp)
c.3129G>T (p.Glu1043Asp)
c.2646G>T (p.Glu882Asp)
c.2541G>T (p.Glu847Asp)
3g.122285084delCA2667224939CASRc.2899del (p.Val967TrpfsTer12)
c.3160del (p.Val1054TrpfsTer12)
c.3130del (p.Val1044TrpfsTer12)
c.2647del (p.Val883TrpfsTer12)
c.2542del (p.Val848TrpfsTer12)
gnomAD v4
3g.122285084G>ACA354161514CASRc.2899G>A (p.Val967Met)
c.3160G>A (p.Val1054Met)
c.3130G>A (p.Val1044Met)
c.2647G>A (p.Val883Met)
c.2542G>A (p.Val848Met)
ClinVar
3g.122285084G>CCA354161515CASRc.2899G>C (p.Val967Leu)
c.3160G>C (p.Val1054Leu)
c.3130G>C (p.Val1044Leu)
c.2647G>C (p.Val883Leu)
c.2542G>C (p.Val848Leu)
3g.122285084G>TCA354161517CASRc.2899G>T (p.Val967Leu)
c.3160G>T (p.Val1054Leu)
c.3130G>T (p.Val1044Leu)
c.2647G>T (p.Val883Leu)
c.2542G>T (p.Val848Leu)
3g.122285085T>ACA354161519CASRc.2900T>A (p.Val967Glu)
c.3161T>A (p.Val1054Glu)
c.3131T>A (p.Val1044Glu)
c.2648T>A (p.Val883Glu)
c.2543T>A (p.Val848Glu)
3g.122285085T>CCA354161521CASRc.2900T>C (p.Val967Ala)
c.3161T>C (p.Val1054Ala)
c.3131T>C (p.Val1044Ala)
c.2648T>C (p.Val883Ala)
c.2543T>C (p.Val848Ala)
3g.122285085T>GCA354161523CASRc.2900T>G (p.Val967Gly)
c.3161T>G (p.Val1054Gly)
c.3131T>G (p.Val1044Gly)
c.2648T>G (p.Val883Gly)
c.2543T>G (p.Val848Gly)
dbSNP
3g.122285085T=CA1397873256CASRc.2900T= (p.Val967=)
c.3161T= (p.Val1054=)
c.3131T= (p.Val1044=)
c.2648T= (p.Val883=)
c.2543T= (p.Val848=)
3g.122285085dupCA2667224940CASRc.2900dup (p.Glu968GlyfsTer4)
c.3161dup (p.Glu1055GlyfsTer4)
c.3131dup (p.Glu1045GlyfsTer4)
c.2648dup (p.Glu884GlyfsTer4)
c.2543dup (p.Glu849GlyfsTer4)
gnomAD v4
3g.122285086G>ACA2569937CASRc.2901G>A (p.Val967=)
c.3162G>A (p.Val1054=)
c.3132G>A (p.Val1044=)
c.2649G>A (p.Val883=)
c.2544G>A (p.Val848=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122285086G>CCA435425623CASRc.2901G>C (p.Val967=)
c.3162G>C (p.Val1054=)
c.3132G>C (p.Val1044=)
c.2649G>C (p.Val883=)
c.2544G>C (p.Val848=)
3g.122285086G=CA1397873258CASRc.2901G= (p.Val967=)
c.3162G= (p.Val1054=)
c.3132G= (p.Val1044=)
c.2649G= (p.Val883=)
c.2544G= (p.Val848=)
3g.122285086G>TCA435425624CASRc.2901G>T (p.Val967=)
c.3162G>T (p.Val1054=)
c.3132G>T (p.Val1044=)
c.2649G>T (p.Val883=)
c.2544G>T (p.Val848=)
3g.122285087G>ACA354161529CASRc.2902G>A (p.Glu968Lys)
c.3163G>A (p.Glu1055Lys)
c.3133G>A (p.Glu1045Lys)
c.2650G>A (p.Glu884Lys)
c.2545G>A (p.Glu849Lys)
ClinVar dbSNP COSMIC
3g.122285087G>CCA354161528CASRc.2902G>C (p.Glu968Gln)
c.3163G>C (p.Glu1055Gln)
c.3133G>C (p.Glu1045Gln)
c.2650G>C (p.Glu884Gln)
c.2545G>C (p.Glu849Gln)
3g.122285087G=CA1397873261CASRc.2902G= (p.Glu968=)
c.3163G= (p.Glu1055=)
c.3133G= (p.Glu1045=)
c.2650G= (p.Glu884=)
c.2545G= (p.Glu849=)
3g.122285087G>TCA354161526CASRc.2902G>T (p.Glu968Ter)
c.3163G>T (p.Glu1055Ter)
c.3133G>T (p.Glu1045Ter)
c.2650G>T (p.Glu884Ter)
c.2545G>T (p.Glu849Ter)
3g.122285088A>CCA354161531CASRc.2903A>C (p.Glu968Ala)
c.3164A>C (p.Glu1055Ala)
c.3134A>C (p.Glu1045Ala)
c.2651A>C (p.Glu884Ala)
c.2546A>C (p.Glu849Ala)
3g.122285088A>GCA354161534CASRc.2903A>G (p.Glu968Gly)
c.3164A>G (p.Glu1055Gly)
c.3134A>G (p.Glu1045Gly)
c.2651A>G (p.Glu884Gly)
c.2546A>G (p.Glu849Gly)
3g.122285088A>TCA354161533CASRc.2903A>T (p.Glu968Val)
c.3164A>T (p.Glu1055Val)
c.3134A>T (p.Glu1045Val)
c.2651A>T (p.Glu884Val)
c.2546A>T (p.Glu849Val)
3g.122285089G>ACA2569939CASRc.2904G>A (p.Glu968=)
c.3165G>A (p.Glu1055=)
c.3135G>A (p.Glu1045=)
c.2652G>A (p.Glu884=)
c.2547G>A (p.Glu849=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122285089G>CCA2569938CASRc.2904G>C (p.Glu968Asp)
c.3165G>C (p.Glu1055Asp)
c.3135G>C (p.Glu1045Asp)
c.2652G>C (p.Glu884Asp)
c.2547G>C (p.Glu849Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122285089G=CA1397873263CASRc.2904G= (p.Glu968=)
c.3165G= (p.Glu1055=)
c.3135G= (p.Glu1045=)
c.2652G= (p.Glu884=)
c.2547G= (p.Glu849=)
3g.122285089G>TCA354161539CASRc.2904G>T (p.Glu968Asp)
c.3165G>T (p.Glu1055Asp)
c.3135G>T (p.Glu1045Asp)
c.2652G>T (p.Glu884Asp)
c.2547G>T (p.Glu849Asp)
3g.122285090G>ACA354161540CASRc.2905G>A (p.Asp969Asn)
c.3166G>A (p.Asp1056Asn)
c.3136G>A (p.Asp1046Asn)
c.2653G>A (p.Asp885Asn)
c.2548G>A (p.Asp850Asn)
dbSNP
3g.122285090G>CCA354161542CASRc.2905G>C (p.Asp969His)
c.3166G>C (p.Asp1056His)
c.3136G>C (p.Asp1046His)
c.2653G>C (p.Asp885His)
c.2548G>C (p.Asp850His)
3g.122285090G=CA1397873265CASRc.2905G= (p.Asp969=)
c.3166G= (p.Asp1056=)
c.3136G= (p.Asp1046=)
c.2653G= (p.Asp885=)
c.2548G= (p.Asp850=)
3g.122285090G>TCA354161544CASRc.2905G>T (p.Asp969Tyr)
c.3166G>T (p.Asp1056Tyr)
c.3136G>T (p.Asp1046Tyr)
c.2653G>T (p.Asp885Tyr)
c.2548G>T (p.Asp850Tyr)
gnomAD v4
3g.122285091A>CCA354161545CASRc.2906A>C (p.Asp969Ala)
c.3167A>C (p.Asp1056Ala)
c.3137A>C (p.Asp1046Ala)
c.2654A>C (p.Asp885Ala)
c.2549A>C (p.Asp850Ala)
3g.122285091A>GCA354161547CASRc.2906A>G (p.Asp969Gly)
c.3167A>G (p.Asp1056Gly)
c.3137A>G (p.Asp1046Gly)
c.2654A>G (p.Asp885Gly)
c.2549A>G (p.Asp850Gly)
3g.122285091A>TCA354161549CASRc.2906A>T (p.Asp969Val)
c.3167A>T (p.Asp1056Val)
c.3137A>T (p.Asp1046Val)
c.2654A>T (p.Asp885Val)
c.2549A>T (p.Asp850Val)
3g.122285092C>ACA10582125CASRc.2907C>A (p.Asp969Glu)
c.3168C>A (p.Asp1056Glu)
c.3138C>A (p.Asp1046Glu)
c.2655C>A (p.Asp885Glu)
c.2550C>A (p.Asp850Glu)
ClinVar dbSNP gnomAD v4
3g.122285092C=CA1397873267CASRc.2907C= (p.Asp969=)
c.3168C= (p.Asp1056=)
c.3138C= (p.Asp1046=)
c.2655C= (p.Asp885=)
c.2550C= (p.Asp850=)
3g.122285092C>GCA354161552CASRc.2907C>G (p.Asp969Glu)
c.3168C>G (p.Asp1056Glu)
c.3138C>G (p.Asp1046Glu)
c.2655C>G (p.Asp885Glu)
c.2550C>G (p.Asp850Glu)
3g.122285092C>TCA435425625CASRc.2907C>T (p.Asp969=)
c.3168C>T (p.Asp1056=)
c.3138C>T (p.Asp1046=)
c.2655C>T (p.Asp885=)
c.2550C>T (p.Asp850=)
ClinVar dbSNP gnomAD v4
3g.122285093C>ACA354161557CASRc.2908C>A (p.Pro970Thr)
c.3169C>A (p.Pro1057Thr)
c.3139C>A (p.Pro1047Thr)
c.2656C>A (p.Pro886Thr)
c.2551C>A (p.Pro851Thr)
3g.122285093C>GCA354161553CASRc.2908C>G (p.Pro970Ala)
c.3169C>G (p.Pro1057Ala)
c.3139C>G (p.Pro1047Ala)
c.2656C>G (p.Pro886Ala)
c.2551C>G (p.Pro851Ala)
3g.122285093C>TCA354161555CASRc.2908C>T (p.Pro970Ser)
c.3169C>T (p.Pro1057Ser)
c.3139C>T (p.Pro1047Ser)
c.2656C>T (p.Pro886Ser)
c.2551C>T (p.Pro851Ser)
3g.122285094C>ACA354161559CASRc.2909C>A (p.Pro970His)
c.3170C>A (p.Pro1057His)
c.3140C>A (p.Pro1047His)
c.2657C>A (p.Pro886His)
c.2552C>A (p.Pro851His)
3g.122285094C>GCA354161560CASRc.2909C>G (p.Pro970Arg)
c.3170C>G (p.Pro1057Arg)
c.3140C>G (p.Pro1047Arg)
c.2657C>G (p.Pro886Arg)
c.2552C>G (p.Pro851Arg)
3g.122285094C>TCA354161562CASRc.2909C>T (p.Pro970Leu)
c.3170C>T (p.Pro1057Leu)
c.3140C>T (p.Pro1047Leu)
c.2657C>T (p.Pro886Leu)
c.2552C>T (p.Pro851Leu)
ClinVar
3g.122285095T>ACA435425626CASRc.2910T>A (p.Pro970=)
c.3171T>A (p.Pro1057=)
c.3141T>A (p.Pro1047=)
c.2658T>A (p.Pro886=)
c.2553T>A (p.Pro851=)
3g.122285095T>CCA435425627CASRc.2910T>C (p.Pro970=)
c.3171T>C (p.Pro1057=)
c.3141T>C (p.Pro1047=)
c.2658T>C (p.Pro886=)
c.2553T>C (p.Pro851=)
3g.122285095T>GCA435425628CASRc.2910T>G (p.Pro970=)
c.3171T>G (p.Pro1057=)
c.3141T>G (p.Pro1047=)
c.2658T>G (p.Pro886=)
c.2553T>G (p.Pro851=)
3g.122285096G>ACA2569940CASRc.2911G>A (p.Glu971Lys)
c.3172G>A (p.Glu1058Lys)
c.3142G>A (p.Glu1048Lys)
c.2659G>A (p.Glu887Lys)
c.2554G>A (p.Glu852Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122285096G>CCA354161565CASRc.2911G>C (p.Glu971Gln)
c.3172G>C (p.Glu1058Gln)
c.3142G>C (p.Glu1048Gln)
c.2659G>C (p.Glu887Gln)
c.2554G>C (p.Glu852Gln)
3g.122285096G=CA1397873269CASRc.2911G= (p.Glu971=)
c.3172G= (p.Glu1058=)
c.3142G= (p.Glu1048=)
c.2659G= (p.Glu887=)
c.2554G= (p.Glu852=)
3g.122285096G>TCA354161567CASRc.2911G>T (p.Glu971Ter)
c.3172G>T (p.Glu1058Ter)
c.3142G>T (p.Glu1048Ter)
c.2659G>T (p.Glu887Ter)
c.2554G>T (p.Glu852Ter)
COSMIC
3g.122285097A>CCA354161569CASRc.2912A>C (p.Glu971Ala)
c.3173A>C (p.Glu1058Ala)
c.3143A>C (p.Glu1048Ala)
c.2660A>C (p.Glu887Ala)
c.2555A>C (p.Glu852Ala)
3g.122285097A>GCA354161570CASRc.2912A>G (p.Glu971Gly)
c.3173A>G (p.Glu1058Gly)
c.3143A>G (p.Glu1048Gly)
c.2660A>G (p.Glu887Gly)
c.2555A>G (p.Glu852Gly)
3g.122285097A>TCA354161572CASRc.2912A>T (p.Glu971Val)
c.3173A>T (p.Glu1058Val)
c.3143A>T (p.Glu1048Val)
c.2660A>T (p.Glu887Val)
c.2555A>T (p.Glu852Val)
3g.122285098A>CCA354161573CASRc.2913A>C (p.Glu971Asp)
c.3174A>C (p.Glu1058Asp)
c.3144A>C (p.Glu1048Asp)
c.2661A>C (p.Glu887Asp)
c.2556A>C (p.Glu852Asp)
3g.122285098A>GCA435425629CASRc.2913A>G (p.Glu971=)
c.3174A>G (p.Glu1058=)
c.3144A>G (p.Glu1048=)
c.2661A>G (p.Glu887=)
c.2556A>G (p.Glu852=)
3g.122285098A>TCA354161575CASRc.2913A>T (p.Glu971Asp)
c.3174A>T (p.Glu1058Asp)
c.3144A>T (p.Glu1048Asp)
c.2661A>T (p.Glu887Asp)
c.2556A>T (p.Glu852Asp)
3g.122285099G>ACA354161579CASRc.2914G>A (p.Glu972Lys)
c.3175G>A (p.Glu1059Lys)
c.3145G>A (p.Glu1049Lys)
c.2662G>A (p.Glu888Lys)
c.2557G>A (p.Glu853Lys)
3g.122285099G>CCA354161581CASRc.2914G>C (p.Glu972Gln)
c.3175G>C (p.Glu1059Gln)
c.3145G>C (p.Glu1049Gln)
c.2662G>C (p.Glu888Gln)
c.2557G>C (p.Glu853Gln)
3g.122285099G>TCA354161577CASRc.2914G>T (p.Glu972Ter)
c.3175G>T (p.Glu1059Ter)
c.3145G>T (p.Glu1049Ter)
c.2662G>T (p.Glu888Ter)
c.2557G>T (p.Glu853Ter)
ClinVar dbSNP
3g.122285100A>CCA354161583CASRc.2915A>C (p.Glu972Ala)
c.3176A>C (p.Glu1059Ala)
c.3146A>C (p.Glu1049Ala)
c.2663A>C (p.Glu888Ala)
c.2558A>C (p.Glu853Ala)
3g.122285100A>GCA354161584CASRc.2915A>G (p.Glu972Gly)
c.3176A>G (p.Glu1059Gly)
c.3146A>G (p.Glu1049Gly)
c.2663A>G (p.Glu888Gly)
c.2558A>G (p.Glu853Gly)
3g.122285100A>TCA354161586CASRc.2915A>T (p.Glu972Val)
c.3176A>T (p.Glu1059Val)
c.3146A>T (p.Glu1049Val)
c.2663A>T (p.Glu888Val)
c.2558A>T (p.Glu853Val)
3g.122285101G>ACA435425630CASRc.2916G>A (p.Glu972=)
c.3177G>A (p.Glu1059=)
c.3147G>A (p.Glu1049=)
c.2664G>A (p.Glu888=)
c.2559G>A (p.Glu853=)
3g.122285101G>CCA354161588CASRc.2916G>C (p.Glu972Asp)
c.3177G>C (p.Glu1059Asp)
c.3147G>C (p.Glu1049Asp)
c.2664G>C (p.Glu888Asp)
c.2559G>C (p.Glu853Asp)
3g.122285101G>TCA354161589CASRc.2916G>T (p.Glu972Asp)
c.3177G>T (p.Glu1059Asp)
c.3147G>T (p.Glu1049Asp)
c.2664G>T (p.Glu888Asp)
c.2559G>T (p.Glu853Asp)
ClinVar
3g.122285102T>ACA354161590CASRc.2917T>A (p.Leu973Met)
c.3178T>A (p.Leu1060Met)
c.3148T>A (p.Leu1050Met)
c.2665T>A (p.Leu889Met)
c.2560T>A (p.Leu854Met)
3g.122285102T>CCA435425631CASRc.2917T>C (p.Leu973=)
c.3178T>C (p.Leu1060=)
c.3148T>C (p.Leu1050=)
c.2665T>C (p.Leu889=)
c.2560T>C (p.Leu854=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122285102T>GCA354161592CASRc.2917T>G (p.Leu973Val)
c.3178T>G (p.Leu1060Val)
c.3148T>G (p.Leu1050Val)
c.2665T>G (p.Leu889Val)
c.2560T>G (p.Leu854Val)
3g.122285102T=CA1397873272CASRc.2917T= (p.Leu973=)
c.3178T= (p.Leu1060=)
c.3148T= (p.Leu1050=)
c.2665T= (p.Leu889=)
c.2560T= (p.Leu854=)
3g.122285103T>ACA354161594CASRc.2918T>A (p.Leu973Ter)
c.3179T>A (p.Leu1060Ter)
c.3149T>A (p.Leu1050Ter)
c.2666T>A (p.Leu889Ter)
c.2561T>A (p.Leu854Ter)
COSMIC
3g.122285103T>CCA354161596CASRc.2918T>C (p.Leu973Ser)
c.3179T>C (p.Leu1060Ser)
c.3149T>C (p.Leu1050Ser)
c.2666T>C (p.Leu889Ser)
c.2561T>C (p.Leu854Ser)
3g.122285103T>GCA354161597CASRc.2918T>G (p.Leu973Trp)
c.3179T>G (p.Leu1060Trp)
c.3149T>G (p.Leu1050Trp)
c.2666T>G (p.Leu889Trp)
c.2561T>G (p.Leu854Trp)
3g.122285104G>ACA435425632CASRc.2919G>A (p.Leu973=)
c.3180G>A (p.Leu1060=)
c.3150G>A (p.Leu1050=)
c.2667G>A (p.Leu889=)
c.2562G>A (p.Leu854=)
ClinVar
3g.122285104G>CCA354161599CASRc.2919G>C (p.Leu973Phe)
c.3180G>C (p.Leu1060Phe)
c.3150G>C (p.Leu1050Phe)
c.2667G>C (p.Leu889Phe)
c.2562G>C (p.Leu854Phe)
ClinVar dbSNP gnomAD v4
3g.122285104G>TCA354161601CASRc.2919G>T (p.Leu973Phe)
c.3180G>T (p.Leu1060Phe)
c.3150G>T (p.Leu1050Phe)
c.2667G>T (p.Leu889Phe)
c.2562G>T (p.Leu854Phe)
3g.122285105T>ACA354161605CASRc.2920T>A (p.Ser974Thr)
c.3181T>A (p.Ser1061Thr)
c.3151T>A (p.Ser1051Thr)
c.2668T>A (p.Ser890Thr)
c.2563T>A (p.Ser855Thr)
3g.122285105T>CCA2569941CASRc.2920T>C (p.Ser974Pro)
c.3181T>C (p.Ser1061Pro)
c.3151T>C (p.Ser1051Pro)
c.2668T>C (p.Ser890Pro)
c.2563T>C (p.Ser855Pro)
dbSNP ExAC gnomAD v2 COSMIC
3g.122285105T>GCA354161603CASRc.2920T>G (p.Ser974Ala)
c.3181T>G (p.Ser1061Ala)
c.3151T>G (p.Ser1051Ala)
c.2668T>G (p.Ser890Ala)
c.2563T>G (p.Ser855Ala)
3g.122285105T=CA1397873274CASRc.2920T= (p.Ser974=)
c.3181T= (p.Ser1061=)
c.3151T= (p.Ser1051=)
c.2668T= (p.Ser890=)
c.2563T= (p.Ser855=)
3g.122285106C>ACA354161608CASRc.2921C>A (p.Ser974Tyr)
c.3182C>A (p.Ser1061Tyr)
c.3152C>A (p.Ser1051Tyr)
c.2669C>A (p.Ser890Tyr)
c.2564C>A (p.Ser855Tyr)
3g.122285106C>GCA354161609CASRc.2921C>G (p.Ser974Cys)
c.3182C>G (p.Ser1061Cys)
c.3152C>G (p.Ser1051Cys)
c.2669C>G (p.Ser890Cys)
c.2564C>G (p.Ser855Cys)
3g.122285106C>TCA354161611CASRc.2921C>T (p.Ser974Phe)
c.3182C>T (p.Ser1061Phe)
c.3152C>T (p.Ser1051Phe)
c.2669C>T (p.Ser890Phe)
c.2564C>T (p.Ser855Phe)
3g.122285107C>ACA435425633CASRc.2922C>A (p.Ser974=)
c.3183C>A (p.Ser1061=)
c.3153C>A (p.Ser1051=)
c.2670C>A (p.Ser890=)
c.2565C>A (p.Ser855=)
3g.122285107C=CA1397873275CASRc.2922C= (p.Ser974=)
c.3183C= (p.Ser1061=)
c.3153C= (p.Ser1051=)
c.2670C= (p.Ser890=)
c.2565C= (p.Ser855=)
3g.122285107C>GCA435425635CASRc.2922C>G (p.Ser974=)
c.3183C>G (p.Ser1061=)
c.3153C>G (p.Ser1051=)
c.2670C>G (p.Ser890=)
c.2565C>G (p.Ser855=)
ClinVar
3g.122285107C>TCA435425634CASRc.2922C>T (p.Ser974=)
c.3183C>T (p.Ser1061=)
c.3153C>T (p.Ser1051=)
c.2670C>T (p.Ser890=)
c.2565C>T (p.Ser855=)
ClinVar dbSNP
3g.122285108C>ACA354161613CASRc.2923C>A (p.Pro975Thr)
c.3184C>A (p.Pro1062Thr)
c.3154C>A (p.Pro1052Thr)
c.2671C>A (p.Pro891Thr)
c.2566C>A (p.Pro856Thr)
3g.122285108C>GCA354161615CASRc.2923C>G (p.Pro975Ala)
c.3184C>G (p.Pro1062Ala)
c.3154C>G (p.Pro1052Ala)
c.2671C>G (p.Pro891Ala)
c.2566C>G (p.Pro856Ala)
3g.122285108C>TCA354161617CASRc.2923C>T (p.Pro975Ser)
c.3184C>T (p.Pro1062Ser)
c.3154C>T (p.Pro1052Ser)
c.2671C>T (p.Pro891Ser)
c.2566C>T (p.Pro856Ser)
gnomAD v4 COSMIC
3g.122285109C>ACA354161619CASRc.2924C>A (p.Pro975Gln)
c.3185C>A (p.Pro1062Gln)
c.3155C>A (p.Pro1052Gln)
c.2672C>A (p.Pro891Gln)
c.2567C>A (p.Pro856Gln)
3g.122285109C>GCA354161623CASRc.2924C>G (p.Pro975Arg)
c.3185C>G (p.Pro1062Arg)
c.3155C>G (p.Pro1052Arg)
c.2672C>G (p.Pro891Arg)
c.2567C>G (p.Pro856Arg)
3g.122285109C>TCA354161621CASRc.2924C>T (p.Pro975Leu)
c.3185C>T (p.Pro1062Leu)
c.3155C>T (p.Pro1052Leu)
c.2672C>T (p.Pro891Leu)
c.2567C>T (p.Pro856Leu)
3g.122285110A=CA1397873278CASRc.2925A= (p.Pro975=)
c.3186A= (p.Pro1062=)
c.3156A= (p.Pro1052=)
c.2673A= (p.Pro891=)
c.2568A= (p.Pro856=)
3g.122285110A>CCA82749593CASRc.2925A>C (p.Pro975=)
c.3186A>C (p.Pro1062=)
c.3156A>C (p.Pro1052=)
c.2673A>C (p.Pro891=)
c.2568A>C (p.Pro856=)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122285110A>GCA2569942CASRc.2925A>G (p.Pro975=)
c.3186A>G (p.Pro1062=)
c.3156A>G (p.Pro1052=)
c.2673A>G (p.Pro891=)
c.2568A>G (p.Pro856=)
dbSNP ExAC gnomAD v2
3g.122285110A>TCA435425636CASRc.2925A>T (p.Pro975=)
c.3186A>T (p.Pro1062=)
c.3156A>T (p.Pro1052=)
c.2673A>T (p.Pro891=)
c.2568A>T (p.Pro856=)
3g.122285111G>ACA354161626CASRc.2926G>A (p.Ala976Thr)
c.3187G>A (p.Ala1063Thr)
c.3157G>A (p.Ala1053Thr)
c.2674G>A (p.Ala892Thr)
c.2569G>A (p.Ala857Thr)
3g.122285111G>CCA354161628CASRc.2926G>C (p.Ala976Pro)
c.3187G>C (p.Ala1063Pro)
c.3157G>C (p.Ala1053Pro)
c.2674G>C (p.Ala892Pro)
c.2569G>C (p.Ala857Pro)
3g.122285111G>TCA354161629CASRc.2926G>T (p.Ala976Ser)
c.3187G>T (p.Ala1063Ser)
c.3157G>T (p.Ala1053Ser)
c.2674G>T (p.Ala892Ser)
c.2569G>T (p.Ala857Ser)
3g.122285112C>ACA354161633CASRc.2927C>A (p.Ala976Glu)
c.3188C>A (p.Ala1063Glu)
c.3158C>A (p.Ala1053Glu)
c.2675C>A (p.Ala892Glu)
c.2570C>A (p.Ala857Glu)
3g.122285112C>GCA354161635CASRc.2927C>G (p.Ala976Gly)
c.3188C>G (p.Ala1063Gly)
c.3158C>G (p.Ala1053Gly)
c.2675C>G (p.Ala892Gly)
c.2570C>G (p.Ala857Gly)
3g.122285112C>TCA354161631CASRc.2927C>T (p.Ala976Val)
c.3188C>T (p.Ala1063Val)
c.3158C>T (p.Ala1053Val)
c.2675C>T (p.Ala892Val)
c.2570C>T (p.Ala857Val)
ClinVar
3g.122285113A=CA1397873279CASRc.2928A= (p.Ala976=)
c.3189A= (p.Ala1063=)
c.3159A= (p.Ala1053=)
c.2676A= (p.Ala892=)
c.2571A= (p.Ala857=)
3g.122285113A>CCA82749604CASRc.2928A>C (p.Ala976=)
c.3189A>C (p.Ala1063=)
c.3159A>C (p.Ala1053=)
c.2676A>C (p.Ala892=)
c.2571A>C (p.Ala857=)
ClinVar dbSNP
3g.122285113A>GCA435425638CASRc.2928A>G (p.Ala976=)
c.3189A>G (p.Ala1063=)
c.3159A>G (p.Ala1053=)
c.2676A>G (p.Ala892=)
c.2571A>G (p.Ala857=)
3g.122285113A>TCA435425637CASRc.2928A>T (p.Ala976=)
c.3189A>T (p.Ala1063=)
c.3159A>T (p.Ala1053=)
c.2676A>T (p.Ala892=)
c.2571A>T (p.Ala857=)
3g.122285114C>ACA354161638CASRc.2929C>A (p.Leu977Ile)
c.3190C>A (p.Leu1064Ile)
c.3160C>A (p.Leu1054Ile)
c.2677C>A (p.Leu893Ile)
c.2572C>A (p.Leu858Ile)
3g.122285114C>GCA354161636CASRc.2929C>G (p.Leu977Val)
c.3190C>G (p.Leu1064Val)
c.3160C>G (p.Leu1054Val)
c.2677C>G (p.Leu893Val)
c.2572C>G (p.Leu858Val)
3g.122285114C>TCA354161640CASRc.2929C>T (p.Leu977Phe)
c.3190C>T (p.Leu1064Phe)
c.3160C>T (p.Leu1054Phe)
c.2677C>T (p.Leu893Phe)
c.2572C>T (p.Leu858Phe)
3g.122285115T>ACA354161642CASRc.2930T>A (p.Leu977His)
c.3191T>A (p.Leu1064His)
c.3161T>A (p.Leu1054His)
c.2678T>A (p.Leu893His)
c.2573T>A (p.Leu858His)
3g.122285115T>CCA354161646CASRc.2930T>C (p.Leu977Pro)
c.3191T>C (p.Leu1064Pro)
c.3161T>C (p.Leu1054Pro)
c.2678T>C (p.Leu893Pro)
c.2573T>C (p.Leu858Pro)
3g.122285115T>GCA354161644CASRc.2930T>G (p.Leu977Arg)
c.3191T>G (p.Leu1064Arg)
c.3161T>G (p.Leu1054Arg)
c.2678T>G (p.Leu893Arg)
c.2573T>G (p.Leu858Arg)
3g.122285116T>ACA435425639CASRc.2931T>A (p.Leu977=)
c.3192T>A (p.Leu1064=)
c.3162T>A (p.Leu1054=)
c.2679T>A (p.Leu893=)
c.2574T>A (p.Leu858=)
3g.122285116T>CCA435425640CASRc.2931T>C (p.Leu977=)
c.3192T>C (p.Leu1064=)
c.3162T>C (p.Leu1054=)
c.2679T>C (p.Leu893=)
c.2574T>C (p.Leu858=)
dbSNP gnomAD v3 gnomAD v4
3g.122285116T>GCA435425641CASRc.2931T>G (p.Leu977=)
c.3192T>G (p.Leu1064=)
c.3162T>G (p.Leu1054=)
c.2679T>G (p.Leu893=)
c.2574T>G (p.Leu858=)
3g.122285116T=CA1397873281CASRc.2931T= (p.Leu977=)
c.3192T= (p.Leu1064=)
c.3162T= (p.Leu1054=)
c.2679T= (p.Leu893=)
c.2574T= (p.Leu858=)
3g.122285117G>ACA354161648CASRc.2932G>A (p.Val978Ile)
c.3193G>A (p.Val1065Ile)
c.3163G>A (p.Val1055Ile)
c.2680G>A (p.Val894Ile)
c.2575G>A (p.Val859Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122285117G>CCA354161650CASRc.2932G>C (p.Val978Leu)
c.3193G>C (p.Val1065Leu)
c.3163G>C (p.Val1055Leu)
c.2680G>C (p.Val894Leu)
c.2575G>C (p.Val859Leu)
gnomAD v4
3g.122285117G=CA1397873283CASRc.2932G= (p.Val978=)
c.3193G= (p.Val1065=)
c.3163G= (p.Val1055=)
c.2680G= (p.Val894=)
c.2575G= (p.Val859=)
3g.122285117G>TCA354161652CASRc.2932G>T (p.Val978Leu)
c.3193G>T (p.Val1065Leu)
c.3163G>T (p.Val1055Leu)
c.2680G>T (p.Val894Leu)
c.2575G>T (p.Val859Leu)
3g.122285118T>ACA354161654CASRc.2933T>A (p.Val978Glu)
c.3194T>A (p.Val1065Glu)
c.3164T>A (p.Val1055Glu)
c.2681T>A (p.Val894Glu)
c.2576T>A (p.Val859Glu)
3g.122285118T>CCA354161656CASRc.2933T>C (p.Val978Ala)
c.3194T>C (p.Val1065Ala)
c.3164T>C (p.Val1055Ala)
c.2681T>C (p.Val894Ala)
c.2576T>C (p.Val859Ala)
dbSNP
3g.122285118T>GCA354161658CASRc.2933T>G (p.Val978Gly)
c.3194T>G (p.Val1065Gly)
c.3164T>G (p.Val1055Gly)
c.2681T>G (p.Val894Gly)
c.2576T>G (p.Val859Gly)
3g.122285118T=CA1397873285CASRc.2933T= (p.Val978=)
c.3194T= (p.Val1065=)
c.3164T= (p.Val1055=)
c.2681T= (p.Val894=)
c.2576T= (p.Val859=)
3g.122285119A=CA1397873286CASRc.2934A= (p.Val978=)
c.3195A= (p.Val1065=)
c.3165A= (p.Val1055=)
c.2682A= (p.Val894=)
c.2577A= (p.Val859=)
3g.122285119A>CCA435425642CASRc.2934A>C (p.Val978=)
c.3195A>C (p.Val1065=)
c.3165A>C (p.Val1055=)
c.2682A>C (p.Val894=)
c.2577A>C (p.Val859=)
3g.122285119A>GCA435425643CASRc.2934A>G (p.Val978=)
c.3195A>G (p.Val1065=)
c.3165A>G (p.Val1055=)
c.2682A>G (p.Val894=)
c.2577A>G (p.Val859=)
ClinVar
3g.122285119A>TCA435425644CASRc.2934A>T (p.Val978=)
c.3195A>T (p.Val1065=)
c.3165A>T (p.Val1055=)
c.2682A>T (p.Val894=)
c.2577A>T (p.Val859=)
dbSNP
3g.122285120G>ACA354161660CASRc.2935G>A (p.Val979Met)
c.3196G>A (p.Val1066Met)
c.3166G>A (p.Val1056Met)
c.2683G>A (p.Val895Met)
c.2578G>A (p.Val860Met)
COSMIC
3g.122285120G>CCA354161662CASRc.2935G>C (p.Val979Leu)
c.3196G>C (p.Val1066Leu)
c.3166G>C (p.Val1056Leu)
c.2683G>C (p.Val895Leu)
c.2578G>C (p.Val860Leu)
ClinVar dbSNP gnomAD v4
3g.122285120G=CA1397873288CASRc.2935G= (p.Val979=)
c.3196G= (p.Val1066=)
c.3166G= (p.Val1056=)
c.2683G= (p.Val895=)
c.2578G= (p.Val860=)
3g.122285120G>TCA354161664CASRc.2935G>T (p.Val979Leu)
c.3196G>T (p.Val1066Leu)
c.3166G>T (p.Val1056Leu)
c.2683G>T (p.Val895Leu)
c.2578G>T (p.Val860Leu)
3g.122285121T>ACA354161666CASRc.2936T>A (p.Val979Glu)
c.3197T>A (p.Val1066Glu)
c.3167T>A (p.Val1056Glu)
c.2684T>A (p.Val895Glu)
c.2579T>A (p.Val860Glu)
3g.122285121T>CCA82749616CASRc.2936T>C (p.Val979Ala)
c.3197T>C (p.Val1066Ala)
c.3167T>C (p.Val1056Ala)
c.2684T>C (p.Val895Ala)
c.2579T>C (p.Val860Ala)
ClinVar dbSNP
3g.122285121T>GCA354161669CASRc.2936T>G (p.Val979Gly)
c.3197T>G (p.Val1066Gly)
c.3167T>G (p.Val1056Gly)
c.2684T>G (p.Val895Gly)
c.2579T>G (p.Val860Gly)
3g.122285121T=CA1397873289CASRc.2936T= (p.Val979=)
c.3197T= (p.Val1066=)
c.3167T= (p.Val1056=)
c.2684T= (p.Val895=)
c.2579T= (p.Val860=)
3g.122285122G>ACA435425646CASRc.2937G>A (p.Val979=)
c.3198G>A (p.Val1066=)
c.3168G>A (p.Val1056=)
c.2685G>A (p.Val895=)
c.2580G>A (p.Val860=)
gnomAD v4
3g.122285122G>CCA435425645CASRc.2937G>C (p.Val979=)
c.3198G>C (p.Val1066=)
c.3168G>C (p.Val1056=)
c.2685G>C (p.Val895=)
c.2580G>C (p.Val860=)
3g.122285122G=CA1397873291CASRc.2937G= (p.Val979=)
c.3198G= (p.Val1066=)
c.3168G= (p.Val1056=)
c.2685G= (p.Val895=)
c.2580G= (p.Val860=)
3g.122285122G>TCA10614607CASRc.2937G>T (p.Val979=)
c.3198G>T (p.Val1066=)
c.3168G>T (p.Val1056=)
c.2685G>T (p.Val895=)
c.2580G>T (p.Val860=)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122285123T>ACA354161672CASRc.2938T>A (p.Ser980Thr)
c.3199T>A (p.Ser1067Thr)
c.3169T>A (p.Ser1057Thr)
c.2686T>A (p.Ser896Thr)
c.2581T>A (p.Ser861Thr)
ClinVar dbSNP
3g.122285123T>CCA354161674CASRc.2938T>C (p.Ser980Pro)
c.3199T>C (p.Ser1067Pro)
c.3169T>C (p.Ser1057Pro)
c.2686T>C (p.Ser896Pro)
c.2581T>C (p.Ser861Pro)
ClinVar
3g.122285123T>GCA354161676CASRc.2938T>G (p.Ser980Ala)
c.3199T>G (p.Ser1067Ala)
c.3169T>G (p.Ser1057Ala)
c.2686T>G (p.Ser896Ala)
c.2581T>G (p.Ser861Ala)
ClinVar
3g.122285123T=CA1397873294CASRc.2938T= (p.Ser980=)
c.3199T= (p.Ser1067=)
c.3169T= (p.Ser1057=)
c.2686T= (p.Ser896=)
c.2581T= (p.Ser861=)
3g.122285124C>ACA354161678CASRc.2939C>A (p.Ser980Tyr)
c.3200C>A (p.Ser1067Tyr)
c.3170C>A (p.Ser1057Tyr)
c.2687C>A (p.Ser896Tyr)
c.2582C>A (p.Ser861Tyr)
3g.122285124C>GCA354161680CASRc.2939C>G (p.Ser980Cys)
c.3200C>G (p.Ser1067Cys)
c.3170C>G (p.Ser1057Cys)
c.2687C>G (p.Ser896Cys)
c.2582C>G (p.Ser861Cys)
3g.122285124C>TCA354161682CASRc.2939C>T (p.Ser980Phe)
c.3200C>T (p.Ser1067Phe)
c.3170C>T (p.Ser1057Phe)
c.2687C>T (p.Ser896Phe)
c.2582C>T (p.Ser861Phe)
3g.122285125C>ACA435425647CASRc.2940C>A (p.Ser980=)
c.3201C>A (p.Ser1067=)
c.3171C>A (p.Ser1057=)
c.2688C>A (p.Ser896=)
c.2583C>A (p.Ser861=)
3g.122285125C>GCA435425648CASRc.2940C>G (p.Ser980=)
c.3201C>G (p.Ser1067=)
c.3171C>G (p.Ser1057=)
c.2688C>G (p.Ser896=)
c.2583C>G (p.Ser861=)
3g.122285125C>TCA435425649CASRc.2940C>T (p.Ser980=)
c.3201C>T (p.Ser1067=)
c.3171C>T (p.Ser1057=)
c.2688C>T (p.Ser896=)
c.2583C>T (p.Ser861=)
3g.122285126A=CA1397873296CASRc.2941A= (p.Ser981=)
c.3202A= (p.Ser1068=)
c.3172A= (p.Ser1058=)
c.2689A= (p.Ser897=)
c.2584A= (p.Ser862=)
3g.122285126A>CCA354161684CASRc.2941A>C (p.Ser981Arg)
c.3202A>C (p.Ser1068Arg)
c.3172A>C (p.Ser1058Arg)
c.2689A>C (p.Ser897Arg)
c.2584A>C (p.Ser862Arg)
dbSNP gnomAD v3 gnomAD v4
3g.122285126A>GCA354161686CASRc.2941A>G (p.Ser981Gly)
c.3202A>G (p.Ser1068Gly)
c.3172A>G (p.Ser1058Gly)
c.2689A>G (p.Ser897Gly)
c.2584A>G (p.Ser862Gly)
ClinVar dbSNP
3g.122285126A>TCA354161688CASRc.2941A>T (p.Ser981Cys)
c.3202A>T (p.Ser1068Cys)
c.3172A>T (p.Ser1058Cys)
c.2689A>T (p.Ser897Cys)
c.2584A>T (p.Ser862Cys)
3g.122285127G>ACA354161690CASRc.2942G>A (p.Ser981Asn)
c.3203G>A (p.Ser1068Asn)
c.3173G>A (p.Ser1058Asn)
c.2690G>A (p.Ser897Asn)
c.2585G>A (p.Ser862Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122285127G>CCA354161691CASRc.2942G>C (p.Ser981Thr)
c.3203G>C (p.Ser1068Thr)
c.3173G>C (p.Ser1058Thr)
c.2690G>C (p.Ser897Thr)
c.2585G>C (p.Ser862Thr)
3g.122285127G=CA1397873297CASRc.2942G= (p.Ser981=)
c.3203G= (p.Ser1068=)
c.3173G= (p.Ser1058=)
c.2690G= (p.Ser897=)
c.2585G= (p.Ser862=)
3g.122285127G>TCA354161693CASRc.2942G>T (p.Ser981Ile)
c.3203G>T (p.Ser1068Ile)
c.3173G>T (p.Ser1058Ile)
c.2690G>T (p.Ser897Ile)
c.2585G>T (p.Ser862Ile)
3g.122285128T>ACA354161695CASRc.2943T>A (p.Ser981Arg)
c.3204T>A (p.Ser1068Arg)
c.3174T>A (p.Ser1058Arg)
c.2691T>A (p.Ser897Arg)
c.2586T>A (p.Ser862Arg)
3g.122285128T>CCA435425650CASRc.2943T>C (p.Ser981=)
c.3204T>C (p.Ser1068=)
c.3174T>C (p.Ser1058=)
c.2691T>C (p.Ser897=)
c.2586T>C (p.Ser862=)
3g.122285128T>GCA354161697CASRc.2943T>G (p.Ser981Arg)
c.3204T>G (p.Ser1068Arg)
c.3174T>G (p.Ser1058Arg)
c.2691T>G (p.Ser897Arg)
c.2586T>G (p.Ser862Arg)
3g.122285129T>ACA354161703CASRc.2944T>A (p.Ser982Thr)
c.3205T>A (p.Ser1069Thr)
c.3175T>A (p.Ser1059Thr)
c.2692T>A (p.Ser898Thr)
c.2587T>A (p.Ser863Thr)
3g.122285129T>CCA354161699CASRc.2944T>C (p.Ser982Pro)
c.3205T>C (p.Ser1069Pro)
c.3175T>C (p.Ser1059Pro)
c.2692T>C (p.Ser898Pro)
c.2587T>C (p.Ser863Pro)
ClinVar
3g.122285129T>GCA354161701CASRc.2944T>G (p.Ser982Ala)
c.3205T>G (p.Ser1069Ala)
c.3175T>G (p.Ser1059Ala)
c.2692T>G (p.Ser898Ala)
c.2587T>G (p.Ser863Ala)
3g.122285130C>ACA354161704CASRc.2945C>A (p.Ser982Ter)
c.3206C>A (p.Ser1069Ter)
c.3176C>A (p.Ser1059Ter)
c.2693C>A (p.Ser898Ter)
c.2588C>A (p.Ser863Ter)
3g.122285130C>GCA354161705CASRc.2945C>G (p.Ser982Ter)
c.3206C>G (p.Ser1069Ter)
c.3176C>G (p.Ser1059Ter)
c.2693C>G (p.Ser898Ter)
c.2588C>G (p.Ser863Ter)
3g.122285130C>TCA354161707CASRc.2945C>T (p.Ser982Leu)
c.3206C>T (p.Ser1069Leu)
c.3176C>T (p.Ser1059Leu)
c.2693C>T (p.Ser898Leu)
c.2588C>T (p.Ser863Leu)
3g.122285131A>CCA435425651CASRc.2946A>C (p.Ser982=)
c.3207A>C (p.Ser1069=)
c.3177A>C (p.Ser1059=)
c.2694A>C (p.Ser898=)
c.2589A>C (p.Ser863=)
3g.122285131A>GCA435425652CASRc.2946A>G (p.Ser982=)
c.3207A>G (p.Ser1069=)
c.3177A>G (p.Ser1059=)
c.2694A>G (p.Ser898=)
c.2589A>G (p.Ser863=)
gnomAD v4
3g.122285131A>TCA435425653CASRc.2946A>T (p.Ser982=)
c.3207A>T (p.Ser1069=)
c.3177A>T (p.Ser1059=)
c.2694A>T (p.Ser898=)
c.2589A>T (p.Ser863=)
3g.122285132C>ACA354161709CASRc.2947C>A (p.Gln983Lys)
c.3208C>A (p.Gln1070Lys)
c.3178C>A (p.Gln1060Lys)
c.2695C>A (p.Gln899Lys)
c.2590C>A (p.Gln864Lys)
3g.122285132C>GCA354161711CASRc.2947C>G (p.Gln983Glu)
c.3208C>G (p.Gln1070Glu)
c.3178C>G (p.Gln1060Glu)
c.2695C>G (p.Gln899Glu)
c.2590C>G (p.Gln864Glu)
3g.122285132C>TCA354161712CASRc.2947C>T (p.Gln983Ter)
c.3208C>T (p.Gln1070Ter)
c.3178C>T (p.Gln1060Ter)
c.2695C>T (p.Gln899Ter)
c.2590C>T (p.Gln864Ter)
3g.122285133A>CCA354161719CASRc.2948A>C (p.Gln983Pro)
c.3209A>C (p.Gln1070Pro)
c.3179A>C (p.Gln1060Pro)
c.2696A>C (p.Gln899Pro)
c.2591A>C (p.Gln864Pro)
3g.122285133A>GCA354161715CASRc.2948A>G (p.Gln983Arg)
c.3209A>G (p.Gln1070Arg)
c.3179A>G (p.Gln1060Arg)
c.2696A>G (p.Gln899Arg)
c.2591A>G (p.Gln864Arg)
3g.122285133A>TCA354161717CASRc.2948A>T (p.Gln983Leu)
c.3209A>T (p.Gln1070Leu)
c.3179A>T (p.Gln1060Leu)
c.2696A>T (p.Gln899Leu)
c.2591A>T (p.Gln864Leu)
3g.122285133_122285142delCA2667224941CASRc.2948_2957del (p.Gln983ProfsTer13)
c.3209_3218del (p.Gln1070ProfsTer13)
c.3179_3188del (p.Gln1060ProfsTer13)
c.2696_2705del (p.Gln899ProfsTer13)
c.2591_2600del (p.Gln864ProfsTer13)
gnomAD v4
3g.122285134G>ACA435425654CASRc.2949G>A (p.Gln983=)
c.3210G>A (p.Gln1070=)
c.3180G>A (p.Gln1060=)
c.2697G>A (p.Gln899=)
c.2592G>A (p.Gln864=)
3g.122285134G>CCA354161721CASRc.2949G>C (p.Gln983His)
c.3210G>C (p.Gln1070His)
c.3180G>C (p.Gln1060His)
c.2697G>C (p.Gln899His)
c.2592G>C (p.Gln864His)
ClinVar dbSNP
3g.122285134G>TCA354161723CASRc.2949G>T (p.Gln983His)
c.3210G>T (p.Gln1070His)
c.3180G>T (p.Gln1060His)
c.2697G>T (p.Gln899His)
c.2592G>T (p.Gln864His)
3g.122285135A>CCA354161724CASRc.2950A>C (p.Ser984Arg)
c.3211A>C (p.Ser1071Arg)
c.3181A>C (p.Ser1061Arg)
c.2698A>C (p.Ser900Arg)
c.2593A>C (p.Ser865Arg)
3g.122285135A>GCA354161725CASRc.2950A>G (p.Ser984Gly)
c.3211A>G (p.Ser1071Gly)
c.3181A>G (p.Ser1061Gly)
c.2698A>G (p.Ser900Gly)
c.2593A>G (p.Ser865Gly)
COSMIC
3g.122285135A>TCA354161726CASRc.2950A>T (p.Ser984Cys)
c.3211A>T (p.Ser1071Cys)
c.3181A>T (p.Ser1061Cys)
c.2698A>T (p.Ser900Cys)
c.2593A>T (p.Ser865Cys)
3g.122285136G>ACA354161727CASRc.2951G>A (p.Ser984Asn)
c.3212G>A (p.Ser1071Asn)
c.3182G>A (p.Ser1061Asn)
c.2699G>A (p.Ser900Asn)
c.2594G>A (p.Ser865Asn)
ClinVar dbSNP gnomAD v4 COSMIC
3g.122285136G>CCA354161729CASRc.2951G>C (p.Ser984Thr)
c.3212G>C (p.Ser1071Thr)
c.3182G>C (p.Ser1061Thr)
c.2699G>C (p.Ser900Thr)
c.2594G>C (p.Ser865Thr)
ClinVar gnomAD v4
3g.122285136G=CA1397873298CASRc.2951G= (p.Ser984=)
c.3212G= (p.Ser1071=)
c.3182G= (p.Ser1061=)
c.2699G= (p.Ser900=)
c.2594G= (p.Ser865=)
3g.122285136G>TCA354161728CASRc.2951G>T (p.Ser984Ile)
c.3212G>T (p.Ser1071Ile)
c.3182G>T (p.Ser1061Ile)
c.2699G>T (p.Ser900Ile)
c.2594G>T (p.Ser865Ile)
3g.122285137C>ACA354161730CASRc.2952C>A (p.Ser984Arg)
c.3213C>A (p.Ser1071Arg)
c.3183C>A (p.Ser1061Arg)
c.2700C>A (p.Ser900Arg)
c.2595C>A (p.Ser865Arg)
gnomAD v4
3g.122285137C>GCA354161731CASRc.2952C>G (p.Ser984Arg)
c.3213C>G (p.Ser1071Arg)
c.3183C>G (p.Ser1061Arg)
c.2700C>G (p.Ser900Arg)
c.2595C>G (p.Ser865Arg)
3g.122285137C>TCA435425658CASRc.2952C>T (p.Ser984=)
c.3213C>T (p.Ser1071=)
c.3183C>T (p.Ser1061=)
c.2700C>T (p.Ser900=)
c.2595C>T (p.Ser865=)
ClinVar gnomAD v4
3g.122285138T>ACA354161732CASRc.2953T>A (p.Phe985Ile)
c.3214T>A (p.Phe1072Ile)
c.3184T>A (p.Phe1062Ile)
c.2701T>A (p.Phe901Ile)
c.2596T>A (p.Phe866Ile)
3g.122285138T>CCA354161733CASRc.2953T>C (p.Phe985Leu)
c.3214T>C (p.Phe1072Leu)
c.3184T>C (p.Phe1062Leu)
c.2701T>C (p.Phe901Leu)
c.2596T>C (p.Phe866Leu)
3g.122285138T>GCA354161734CASRc.2953T>G (p.Phe985Val)
c.3214T>G (p.Phe1072Val)
c.3184T>G (p.Phe1062Val)
c.2701T>G (p.Phe901Val)
c.2596T>G (p.Phe866Val)
3g.122285139T>ACA354161735CASRc.2954T>A (p.Phe985Tyr)
c.3215T>A (p.Phe1072Tyr)
c.3185T>A (p.Phe1062Tyr)
c.2702T>A (p.Phe901Tyr)
c.2597T>A (p.Phe866Tyr)
3g.122285139T>CCA354161736CASRc.2954T>C (p.Phe985Ser)
c.3215T>C (p.Phe1072Ser)
c.3185T>C (p.Phe1062Ser)
c.2702T>C (p.Phe901Ser)
c.2597T>C (p.Phe866Ser)
3g.122285139T>GCA354161737CASRc.2954T>G (p.Phe985Cys)
c.3215T>G (p.Phe1072Cys)
c.3185T>G (p.Phe1062Cys)
c.2702T>G (p.Phe901Cys)
c.2597T>G (p.Phe866Cys)
3g.122285140T>ACA354161738CASRc.2955T>A (p.Phe985Leu)
c.3216T>A (p.Phe1072Leu)
c.3186T>A (p.Phe1062Leu)
c.2703T>A (p.Phe901Leu)
c.2598T>A (p.Phe866Leu)
3g.122285140T>CCA2569943CASRc.2955T>C (p.Phe985=)
c.3216T>C (p.Phe1072=)
c.3186T>C (p.Phe1062=)
c.2703T>C (p.Phe901=)
c.2598T>C (p.Phe866=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.122285140T>GCA354161739CASRc.2955T>G (p.Phe985Leu)
c.3216T>G (p.Phe1072Leu)
c.3186T>G (p.Phe1062Leu)
c.2703T>G (p.Phe901Leu)
c.2598T>G (p.Phe866Leu)
3g.122285140T=CA1397873300CASRc.2955T= (p.Phe985=)
c.3216T= (p.Phe1072=)
c.3186T= (p.Phe1062=)
c.2703T= (p.Phe901=)
c.2598T= (p.Phe866=)
3g.122285141G>ACA2569944CASRc.2956G>A (p.Val986Ile)
c.3217G>A (p.Val1073Ile)
c.3187G>A (p.Val1063Ile)
c.2704G>A (p.Val902Ile)
c.2599G>A (p.Val867Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.122285141G>CCA354161741CASRc.2956G>C (p.Val986Leu)
c.3217G>C (p.Val1073Leu)
c.3187G>C (p.Val1063Leu)
c.2704G>C (p.Val902Leu)
c.2599G>C (p.Val867Leu)
gnomAD v4
3g.122285141G=CA1397873301CASRc.2956G= (p.Val986=)
c.3217G= (p.Val1073=)
c.3187G= (p.Val1063=)
c.2704G= (p.Val902=)
c.2599G= (p.Val867=)
3g.122285141G>TCA354161740CASRc.2956G>T (p.Val986Phe)
c.3217G>T (p.Val1073Phe)
c.3187G>T (p.Val1063Phe)
c.2704G>T (p.Val902Phe)
c.2599G>T (p.Val867Phe)
3g.122285142T>ACA354161742CASRc.2957T>A (p.Val986Asp)
c.3218T>A (p.Val1073Asp)
c.3188T>A (p.Val1063Asp)
c.2705T>A (p.Val902Asp)
c.2600T>A (p.Val867Asp)
3g.122285142T>CCA354161744CASRc.2957T>C (p.Val986Ala)
c.3218T>C (p.Val1073Ala)
c.3188T>C (p.Val1063Ala)
c.2705T>C (p.Val902Ala)
c.2600T>C (p.Val867Ala)
COSMIC
3g.122285142T>GCA354161743CASRc.2957T>G (p.Val986Gly)
c.3218T>G (p.Val1073Gly)
c.3188T>G (p.Val1063Gly)
c.2705T>G (p.Val902Gly)
c.2600T>G (p.Val867Gly)
3g.122285143C>ACA435425664CASRc.2958C>A (p.Val986=)
c.3219C>A (p.Val1073=)
c.3189C>A (p.Val1063=)
c.2706C>A (p.Val902=)
c.2601C>A (p.Val867=)
3g.122285143C>GCA435425663CASRc.2958C>G (p.Val986=)
c.3219C>G (p.Val1073=)
c.3189C>G (p.Val1063=)
c.2706C>G (p.Val902=)
c.2601C>G (p.Val867=)
3g.122285143C>TCA435425662CASRc.2958C>T (p.Val986=)
c.3219C>T (p.Val1073=)
c.3189C>T (p.Val1063=)
c.2706C>T (p.Val902=)
c.2601C>T (p.Val867=)
3g.122285144A>CCA354161745CASRc.2959A>C (p.Ile987Leu)
c.3220A>C (p.Ile1074Leu)
c.3190A>C (p.Ile1064Leu)
c.2707A>C (p.Ile903Leu)
c.2602A>C (p.Ile868Leu)
3g.122285144A>GCA354161746CASRc.2959A>G (p.Ile987Val)
c.3220A>G (p.Ile1074Val)
c.3190A>G (p.Ile1064Val)
c.2707A>G (p.Ile903Val)
c.2602A>G (p.Ile868Val)
ClinVar dbSNP
3g.122285144A>TCA354161747CASRc.2959A>T (p.Ile987Phe)
c.3220A>T (p.Ile1074Phe)
c.3190A>T (p.Ile1064Phe)
c.2707A>T (p.Ile903Phe)
c.2602A>T (p.Ile868Phe)
gnomAD v4
3g.122285145T>ACA354161748CASRc.2960T>A (p.Ile987Asn)
c.3221T>A (p.Ile1074Asn)
c.3191T>A (p.Ile1064Asn)
c.2708T>A (p.Ile903Asn)
c.2603T>A (p.Ile868Asn)
3g.122285145T>CCA354161749CASRc.2960T>C (p.Ile987Thr)
c.3221T>C (p.Ile1074Thr)
c.3191T>C (p.Ile1064Thr)
c.2708T>C (p.Ile903Thr)
c.2603T>C (p.Ile868Thr)
3g.122285145T>GCA354161750CASRc.2960T>G (p.Ile987Ser)
c.3221T>G (p.Ile1074Ser)
c.3191T>G (p.Ile1064Ser)
c.2708T>G (p.Ile903Ser)
c.2603T>G (p.Ile868Ser)
3g.122285146C>ACA435425666CASRc.2961C>A (p.Ile987=)
c.3222C>A (p.Ile1074=)
c.3192C>A (p.Ile1064=)
c.2709C>A (p.Ile903=)
c.2604C>A (p.Ile868=)
3g.122285146C>GCA354161751CASRc.2961C>G (p.Ile987Met)
c.3222C>G (p.Ile1074Met)
c.3192C>G (p.Ile1064Met)
c.2709C>G (p.Ile903Met)
c.2604C>G (p.Ile868Met)
3g.122285146C>TCA435425667CASRc.2961C>T (p.Ile987=)
c.3222C>T (p.Ile1074=)
c.3192C>T (p.Ile1064=)
c.2709C>T (p.Ile903=)
c.2604C>T (p.Ile868=)
3g.122285147delCA2586972879CASRc.2962del (p.Ser988ValfsTer11)
c.3223del (p.Ser1075ValfsTer11)
c.3193del (p.Ser1065ValfsTer11)
c.2710del (p.Ser904ValfsTer11)
c.2605del (p.Ser869ValfsTer11)
3g.122285147A=CA1397873303CASRc.2962A= (p.Ser988=)
c.3223A= (p.Ser1075=)
c.3193A= (p.Ser1065=)
c.2710A= (p.Ser904=)
c.2605A= (p.Ser869=)
3g.122285147A>CCA354161752CASRc.2962A>C (p.Ser988Arg)
c.3223A>C (p.Ser1075Arg)
c.3193A>C (p.Ser1065Arg)
c.2710A>C (p.Ser904Arg)
c.2605A>C (p.Ser869Arg)
3g.122285147A>GCA2569945CASRc.2962A>G (p.Ser988Gly)
c.3223A>G (p.Ser1075Gly)
c.3193A>G (p.Ser1065Gly)
c.2710A>G (p.Ser904Gly)
c.2605A>G (p.Ser869Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122285147A>TCA354161753CASRc.2962A>T (p.Ser988Cys)
c.3223A>T (p.Ser1075Cys)
c.3193A>T (p.Ser1065Cys)
c.2710A>T (p.Ser904Cys)
c.2605A>T (p.Ser869Cys)

Number of alleles fetched