Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122284630_122285173delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA | CA1397872785 | CASR | c.2445_2988delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser815=) c.2706_3249delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser902=) c.2676_3219delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser892=) c.2193_2736delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser731=) c.2088_2631delinsCAACGTCTCCCGCAAGCGGTCCAGCAGCCTTGGAGGCTCCACGGGATCCACCCCCTCCTCCTCCATCAGCAGCAAGAGCAACAGCGAAGACCCATTCCCACAGCCCGAGAGGCAGAAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAGAGCAGCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCTCAGCAGCAGCCCAGATGCAAGCAGAAGGTCATCTTTGGCAGCGGCACGGTCACCTTCTCACTGAGCTTTGATGAGCCTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAGAACTCCCTGGAGGCCCAGAAAAGCAGCGATACGCTGACCCGACACGAGCCATTACTCCCGCTGCAGTGCGGGGAAACGGACTTAGATCTGACCGTCCAGGAAACAGGTCTGCAAGGACCTGTGGGTGGAGACCAGCGGCCAGAGGTGGAGGACCCTGAAGAGTTGTCCCCAGCACTTGTAGTGTCCAGTTCACAGAGCTTTGTCATCAGTGGTGGAGGCAGCACTGTTACAGAA (p.Ser696=) | |
3 | g.122284636_122285178del | CA281596 | CASR | c.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 |
3 | g.122284842_122285665del | CA2740094578 | CASR | c.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 |
3 | g.122285049T>A | CA354161423 | CASR | c.2864T>A (p.Leu955Gln) c.3125T>A (p.Leu1042Gln) c.3095T>A (p.Leu1032Gln) c.2612T>A (p.Leu871Gln) c.2507T>A (p.Leu836Gln) | |
3 | g.122285049T>C | CA354161424 | CASR | c.2864T>C (p.Leu955Pro) c.3125T>C (p.Leu1042Pro) c.3095T>C (p.Leu1032Pro) c.2612T>C (p.Leu871Pro) c.2507T>C (p.Leu836Pro) | |
3 | g.122285049T>G | CA354161425 | CASR | c.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 |
3 | g.122285050G>A | CA435425595 | CASR | c.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 |
3 | g.122285050G>C | CA435425596 | CASR | c.2865G>C (p.Leu955=) c.3126G>C (p.Leu1042=) c.3096G>C (p.Leu1032=) c.2613G>C (p.Leu871=) c.2508G>C (p.Leu836=) | |
3 | g.122285050G>T | CA435425597 | CASR | c.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 |
3 | g.122285051C>A | CA354161426 | CASR | c.2866C>A (p.Gln956Lys) c.3127C>A (p.Gln1043Lys) c.3097C>A (p.Gln1033Lys) c.2614C>A (p.Gln872Lys) c.2509C>A (p.Gln837Lys) | |
3 | g.122285051C>G | CA354161427 | CASR | c.2866C>G (p.Gln956Glu) c.3127C>G (p.Gln1043Glu) c.3097C>G (p.Gln1033Glu) c.2614C>G (p.Gln872Glu) c.2509C>G (p.Gln837Glu) | |
3 | g.122285051C>T | CA354161428 | CASR | c.2866C>T (p.Gln956Ter) c.3127C>T (p.Gln1043Ter) c.3097C>T (p.Gln1033Ter) c.2614C>T (p.Gln872Ter) c.2509C>T (p.Gln837Ter) | |
3 | g.122285052A>C | CA354161429 | CASR | c.2867A>C (p.Gln956Pro) c.3128A>C (p.Gln1043Pro) c.3098A>C (p.Gln1033Pro) c.2615A>C (p.Gln872Pro) c.2510A>C (p.Gln837Pro) | |
3 | g.122285052A>G | CA354161431 | CASR | c.2867A>G (p.Gln956Arg) c.3128A>G (p.Gln1043Arg) c.3098A>G (p.Gln1033Arg) c.2615A>G (p.Gln872Arg) c.2510A>G (p.Gln837Arg) | |
3 | g.122285052A>T | CA354161430 | CASR | c.2867A>T (p.Gln956Leu) c.3128A>T (p.Gln1043Leu) c.3098A>T (p.Gln1033Leu) c.2615A>T (p.Gln872Leu) c.2510A>T (p.Gln837Leu) | |
3 | g.122285053A>C | CA354161432 | CASR | c.2868A>C (p.Gln956His) c.3129A>C (p.Gln1043His) c.3099A>C (p.Gln1033His) c.2616A>C (p.Gln872His) c.2511A>C (p.Gln837His) | |
3 | g.122285053A>G | CA435425598 | CASR | c.2868A>G (p.Gln956=) c.3129A>G (p.Gln1043=) c.3099A>G (p.Gln1033=) c.2616A>G (p.Gln872=) c.2511A>G (p.Gln837=) | |
3 | g.122285053A>T | CA354161433 | CASR | c.2868A>T (p.Gln956His) c.3129A>T (p.Gln1043His) c.3099A>T (p.Gln1033His) c.2616A>T (p.Gln872His) c.2511A>T (p.Gln837His) | |
3 | g.122285054G>A | CA354161434 | CASR | c.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 |
3 | g.122285054G>C | CA354161435 | CASR | c.2869G>C (p.Gly957Arg) c.3130G>C (p.Gly1044Arg) c.3100G>C (p.Gly1034Arg) c.2617G>C (p.Gly873Arg) c.2512G>C (p.Gly838Arg) | |
3 | g.122285054G>T | CA354161436 | CASR | c.2869G>T (p.Gly957Ter) c.3130G>T (p.Gly1044Ter) c.3100G>T (p.Gly1034Ter) c.2617G>T (p.Gly873Ter) c.2512G>T (p.Gly838Ter) | |
3 | g.122285055G>A | CA354161437 | CASR | c.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 |
3 | g.122285055G>C | CA354161438 | CASR | c.2870G>C (p.Gly957Ala) c.3131G>C (p.Gly1044Ala) c.3101G>C (p.Gly1034Ala) c.2618G>C (p.Gly873Ala) c.2513G>C (p.Gly838Ala) | |
3 | g.122285055G>T | CA354161439 | CASR | c.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 |
3 | g.122285056A>C | CA435425599 | CASR | c.2871A>C (p.Gly957=) c.3132A>C (p.Gly1044=) c.3102A>C (p.Gly1034=) c.2619A>C (p.Gly873=) c.2514A>C (p.Gly838=) | |
3 | g.122285056A>G | CA435425600 | CASR | c.2871A>G (p.Gly957=) c.3132A>G (p.Gly1044=) c.3102A>G (p.Gly1034=) c.2619A>G (p.Gly873=) c.2514A>G (p.Gly838=) | |
3 | g.122285056A>T | CA435425601 | CASR | c.2871A>T (p.Gly957=) c.3132A>T (p.Gly1044=) c.3102A>T (p.Gly1034=) c.2619A>T (p.Gly873=) c.2514A>T (p.Gly838=) | |
3 | g.122285057C>A | CA354161440 | CASR | c.2872C>A (p.Pro958Thr) c.3133C>A (p.Pro1045Thr) c.3103C>A (p.Pro1035Thr) c.2620C>A (p.Pro874Thr) c.2515C>A (p.Pro839Thr) | |
3 | g.122285057C= | CA1397873230 | CASR | c.2872C= (p.Pro958=) c.3133C= (p.Pro1045=) c.3103C= (p.Pro1035=) c.2620C= (p.Pro874=) c.2515C= (p.Pro839=) | |
3 | g.122285057C>G | CA354161441 | CASR | c.2872C>G (p.Pro958Ala) c.3133C>G (p.Pro1045Ala) c.3103C>G (p.Pro1035Ala) c.2620C>G (p.Pro874Ala) c.2515C>G (p.Pro839Ala) | |
3 | g.122285057C>T | CA2569932 | CASR | c.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 |
3 | g.122285058del | CA2586972878 | CASR | c.2873del (p.Pro958LeufsTer21) c.3134del (p.Pro1045LeufsTer21) c.3104del (p.Pro1035LeufsTer21) c.2621del (p.Pro874LeufsTer21) c.2516del (p.Pro839LeufsTer21) | |
3 | g.122285058C>A | CA354161444 | CASR | c.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 |
3 | g.122285058C= | CA1397873232 | CASR | c.2873C= (p.Pro958=) c.3134C= (p.Pro1045=) c.3104C= (p.Pro1035=) c.2621C= (p.Pro874=) c.2516C= (p.Pro839=) | |
3 | g.122285058C>G | CA354161443 | CASR | c.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 |
3 | g.122285058C>T | CA354161442 | CASR | c.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 |
3 | g.122285059T>A | CA435425602 | CASR | c.2874T>A (p.Pro958=) c.3135T>A (p.Pro1045=) c.3105T>A (p.Pro1035=) c.2622T>A (p.Pro874=) c.2517T>A (p.Pro839=) | |
3 | g.122285059T>C | CA435425603 | CASR | c.2874T>C (p.Pro958=) c.3135T>C (p.Pro1045=) c.3105T>C (p.Pro1035=) c.2622T>C (p.Pro874=) c.2517T>C (p.Pro839=) | |
3 | g.122285059T>G | CA435425604 | CASR | c.2874T>G (p.Pro958=) c.3135T>G (p.Pro1045=) c.3105T>G (p.Pro1035=) c.2622T>G (p.Pro874=) c.2517T>G (p.Pro839=) | |
3 | g.122285060G>A | CA354161445 | CASR | c.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 |
3 | g.122285060G>C | CA354161447 | CASR | c.2875G>C (p.Val959Leu) c.3136G>C (p.Val1046Leu) c.3106G>C (p.Val1036Leu) c.2623G>C (p.Val875Leu) c.2518G>C (p.Val840Leu) | |
3 | g.122285060G>T | CA354161446 | CASR | c.2875G>T (p.Val959Leu) c.3136G>T (p.Val1046Leu) c.3106G>T (p.Val1036Leu) c.2623G>T (p.Val875Leu) c.2518G>T (p.Val840Leu) | |
3 | g.122285061T>A | CA354161448 | CASR | c.2876T>A (p.Val959Glu) c.3137T>A (p.Val1046Glu) c.3107T>A (p.Val1036Glu) c.2624T>A (p.Val875Glu) c.2519T>A (p.Val840Glu) | |
3 | g.122285061T>C | CA216136 | CASR | c.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 |
3 | g.122285061T>G | CA354161449 | CASR | c.2876T>G (p.Val959Gly) c.3137T>G (p.Val1046Gly) c.3107T>G (p.Val1036Gly) c.2624T>G (p.Val875Gly) c.2519T>G (p.Val840Gly) | |
3 | g.122285061T= | CA1397873234 | CASR | c.2876T= (p.Val959=) c.3137T= (p.Val1046=) c.3107T= (p.Val1036=) c.2624T= (p.Val875=) c.2519T= (p.Val840=) | |
3 | g.122285062G>A | CA435425605 | CASR | c.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 |
3 | g.122285062G>C | CA435425606 | CASR | c.2877G>C (p.Val959=) c.3138G>C (p.Val1046=) c.3108G>C (p.Val1036=) c.2625G>C (p.Val875=) c.2520G>C (p.Val840=) | |
3 | g.122285062G>T | CA435425607 | CASR | c.2877G>T (p.Val959=) c.3138G>T (p.Val1046=) c.3108G>T (p.Val1036=) c.2625G>T (p.Val875=) c.2520G>T (p.Val840=) | |
3 | g.122285063G>A | CA354161450 | CASR | c.2878G>A (p.Gly960Ser) c.3139G>A (p.Gly1047Ser) c.3109G>A (p.Gly1037Ser) c.2626G>A (p.Gly876Ser) c.2521G>A (p.Gly841Ser) | |
3 | g.122285063G>C | CA354161451 | CASR | c.2878G>C (p.Gly960Arg) c.3139G>C (p.Gly1047Arg) c.3109G>C (p.Gly1037Arg) c.2626G>C (p.Gly876Arg) c.2521G>C (p.Gly841Arg) | |
3 | g.122285063G>T | CA354161452 | CASR | c.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 |
3 | g.122285064G>A | CA354161453 | CASR | c.2879G>A (p.Gly960Asp) c.3140G>A (p.Gly1047Asp) c.3110G>A (p.Gly1037Asp) c.2627G>A (p.Gly876Asp) c.2522G>A (p.Gly841Asp) | |
3 | g.122285064G>C | CA354161454 | CASR | c.2879G>C (p.Gly960Ala) c.3140G>C (p.Gly1047Ala) c.3110G>C (p.Gly1037Ala) c.2627G>C (p.Gly876Ala) c.2522G>C (p.Gly841Ala) | |
3 | g.122285064G= | CA1397873237 | CASR | c.2879G= (p.Gly960=) c.3140G= (p.Gly1047=) c.3110G= (p.Gly1037=) c.2627G= (p.Gly876=) c.2522G= (p.Gly841=) | |
3 | g.122285064G>T | CA354161455 | CASR | c.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 |
3 | g.122285065T>A | CA435425608 | CASR | c.2880T>A (p.Gly960=) c.3141T>A (p.Gly1047=) c.3111T>A (p.Gly1037=) c.2628T>A (p.Gly876=) c.2523T>A (p.Gly841=) | |
3 | g.122285065T>C | CA435425609 | CASR | c.2880T>C (p.Gly960=) c.3141T>C (p.Gly1047=) c.3111T>C (p.Gly1037=) c.2628T>C (p.Gly876=) c.2523T>C (p.Gly841=) | |
3 | g.122285065T>G | CA435425610 | CASR | c.2880T>G (p.Gly960=) c.3141T>G (p.Gly1047=) c.3111T>G (p.Gly1037=) c.2628T>G (p.Gly876=) c.2523T>G (p.Gly841=) | |
3 | g.122285066G>A | CA2569933 | CASR | c.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 |
3 | g.122285066G>C | CA354161456 | CASR | c.2881G>C (p.Gly961Arg) c.3142G>C (p.Gly1048Arg) c.3112G>C (p.Gly1038Arg) c.2629G>C (p.Gly877Arg) c.2524G>C (p.Gly842Arg) | |
3 | g.122285066G= | CA1397873239 | CASR | c.2881G= (p.Gly961=) c.3142G= (p.Gly1048=) c.3112G= (p.Gly1038=) c.2629G= (p.Gly877=) c.2524G= (p.Gly842=) | |
3 | g.122285066G>T | CA354161457 | CASR | c.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 |
3 | g.122285067G>A | CA354161458 | CASR | c.2882G>A (p.Gly961Glu) c.3143G>A (p.Gly1048Glu) c.3113G>A (p.Gly1038Glu) c.2630G>A (p.Gly877Glu) c.2525G>A (p.Gly842Glu) | |
3 | g.122285067G>C | CA354161459 | CASR | c.2882G>C (p.Gly961Ala) c.3143G>C (p.Gly1048Ala) c.3113G>C (p.Gly1038Ala) c.2630G>C (p.Gly877Ala) c.2525G>C (p.Gly842Ala) | |
3 | g.122285067G>T | CA354161460 | CASR | c.2882G>T (p.Gly961Val) c.3143G>T (p.Gly1048Val) c.3113G>T (p.Gly1038Val) c.2630G>T (p.Gly877Val) c.2525G>T (p.Gly842Val) | |
3 | g.122285068A>C | CA435425611 | CASR | c.2883A>C (p.Gly961=) c.3144A>C (p.Gly1048=) c.3114A>C (p.Gly1038=) c.2631A>C (p.Gly877=) c.2526A>C (p.Gly842=) | |
3 | g.122285068A>G | CA435425612 | CASR | c.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 |
3 | g.122285068A>T | CA435425613 | CASR | c.2883A>T (p.Gly961=) c.3144A>T (p.Gly1048=) c.3114A>T (p.Gly1038=) c.2631A>T (p.Gly877=) c.2526A>T (p.Gly842=) | |
3 | g.122285069G>A | CA354161463 | CASR | c.2884G>A (p.Asp962Asn) c.3145G>A (p.Asp1049Asn) c.3115G>A (p.Asp1039Asn) c.2632G>A (p.Asp878Asn) c.2527G>A (p.Asp843Asn) | |
3 | g.122285069G>C | CA354161461 | CASR | c.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 |
3 | g.122285069G= | CA1397873241 | CASR | c.2884G= (p.Asp962=) c.3145G= (p.Asp1049=) c.3115G= (p.Asp1039=) c.2632G= (p.Asp878=) c.2527G= (p.Asp843=) | |
3 | g.122285069G>T | CA354161462 | CASR | c.2884G>T (p.Asp962Tyr) c.3145G>T (p.Asp1049Tyr) c.3115G>T (p.Asp1039Tyr) c.2632G>T (p.Asp878Tyr) c.2527G>T (p.Asp843Tyr) | |
3 | g.122285070A>C | CA354161464 | CASR | c.2885A>C (p.Asp962Ala) c.3146A>C (p.Asp1049Ala) c.3116A>C (p.Asp1039Ala) c.2633A>C (p.Asp878Ala) c.2528A>C (p.Asp843Ala) | |
3 | g.122285070A>G | CA354161465 | CASR | c.2885A>G (p.Asp962Gly) c.3146A>G (p.Asp1049Gly) c.3116A>G (p.Asp1039Gly) c.2633A>G (p.Asp878Gly) c.2528A>G (p.Asp843Gly) | |
3 | g.122285070A>T | CA354161466 | CASR | c.2885A>T (p.Asp962Val) c.3146A>T (p.Asp1049Val) c.3116A>T (p.Asp1039Val) c.2633A>T (p.Asp878Val) c.2528A>T (p.Asp843Val) | |
3 | g.122285071C>A | CA354161467 | CASR | c.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 |
3 | g.122285071C>G | CA354161468 | CASR | c.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 |
3 | g.122285071C>T | CA435425614 | CASR | c.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 |
3 | g.122285072C>A | CA354161469 | CASR | c.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 |
3 | g.122285072C= | CA1397873243 | CASR | c.2887C= (p.Gln963=) c.3148C= (p.Gln1050=) c.3118C= (p.Gln1040=) c.2635C= (p.Gln879=) c.2530C= (p.Gln844=) | |
3 | g.122285072C>G | CA82749561 | CASR | c.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 |
3 | g.122285072C>T | CA354161470 | CASR | c.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 |
3 | g.122285073A>C | CA354161472 | CASR | c.2888A>C (p.Gln963Pro) c.3149A>C (p.Gln1050Pro) c.3119A>C (p.Gln1040Pro) c.2636A>C (p.Gln879Pro) c.2531A>C (p.Gln844Pro) | |
3 | g.122285073A>G | CA354161474 | CASR | c.2888A>G (p.Gln963Arg) c.3149A>G (p.Gln1050Arg) c.3119A>G (p.Gln1040Arg) c.2636A>G (p.Gln879Arg) c.2531A>G (p.Gln844Arg) | |
3 | g.122285073A>T | CA354161475 | CASR | c.2888A>T (p.Gln963Leu) c.3149A>T (p.Gln1050Leu) c.3119A>T (p.Gln1040Leu) c.2636A>T (p.Gln879Leu) c.2531A>T (p.Gln844Leu) | |
3 | g.122285074G>A | CA435425615 | CASR | c.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 |
3 | g.122285074G>C | CA354161477 | CASR | c.2889G>C (p.Gln963His) c.3150G>C (p.Gln1050His) c.3120G>C (p.Gln1040His) c.2637G>C (p.Gln879His) c.2532G>C (p.Gln844His) | |
3 | g.122285074G>T | CA354161478 | CASR | c.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 |
3 | g.122285075C>A | CA435425616 | CASR | c.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 |
3 | g.122285075C= | CA1397873245 | CASR | c.2890C= (p.Arg964=) c.3151C= (p.Arg1051=) c.3121C= (p.Arg1041=) c.2638C= (p.Arg880=) c.2533C= (p.Arg845=) | |
3 | g.122285075C>G | CA354161480 | CASR | c.2890C>G (p.Arg964Gly) c.3151C>G (p.Arg1051Gly) c.3121C>G (p.Arg1041Gly) c.2638C>G (p.Arg880Gly) c.2533C>G (p.Arg845Gly) | |
3 | g.122285075C>T | CA174089 | CASR | c.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 |
3 | g.122285076G>A | CA2569934 | CASR | c.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 |
3 | g.122285076G>C | CA354161484 | CASR | c.2891G>C (p.Arg964Pro) c.3152G>C (p.Arg1051Pro) c.3122G>C (p.Arg1041Pro) c.2639G>C (p.Arg880Pro) c.2534G>C (p.Arg845Pro) | |
3 | g.122285076G= | CA1397873247 | CASR | c.2891G= (p.Arg964=) c.3152G= (p.Arg1051=) c.3122G= (p.Arg1041=) c.2639G= (p.Arg880=) c.2534G= (p.Arg845=) | |
3 | g.122285076G>T | CA354161486 | CASR | c.2891G>T (p.Arg964Leu) c.3152G>T (p.Arg1051Leu) c.3122G>T (p.Arg1041Leu) c.2639G>T (p.Arg880Leu) c.2534G>T (p.Arg845Leu) | |
3 | g.122285077G>A | CA435425619 | CASR | c.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 |
3 | g.122285077G>C | CA435425618 | CASR | c.2892G>C (p.Arg964=) c.3153G>C (p.Arg1051=) c.3123G>C (p.Arg1041=) c.2640G>C (p.Arg880=) c.2535G>C (p.Arg845=) | |
3 | g.122285077G= | CA1397873249 | CASR | c.2892G= (p.Arg964=) c.3153G= (p.Arg1051=) c.3123G= (p.Arg1041=) c.2640G= (p.Arg880=) c.2535G= (p.Arg845=) | |
3 | g.122285077G>T | CA435425617 | CASR | c.2892G>T (p.Arg964=) c.3153G>T (p.Arg1051=) c.3123G>T (p.Arg1041=) c.2640G>T (p.Arg880=) c.2535G>T (p.Arg845=) | |
3 | g.122285078C>A | CA354161492 | CASR | c.2893C>A (p.Pro965Thr) c.3154C>A (p.Pro1052Thr) c.3124C>A (p.Pro1042Thr) c.2641C>A (p.Pro881Thr) c.2536C>A (p.Pro846Thr) | |
3 | g.122285078C= | CA1397873250 | CASR | c.2893C= (p.Pro965=) c.3154C= (p.Pro1052=) c.3124C= (p.Pro1042=) c.2641C= (p.Pro881=) c.2536C= (p.Pro846=) | |
3 | g.122285078C>G | CA354161490 | CASR | c.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 |
3 | g.122285078C>T | CA354161488 | CASR | c.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 |
3 | g.122285079C>A | CA354161494 | CASR | c.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 |
3 | g.122285079C>G | CA354161495 | CASR | c.2894C>G (p.Pro965Arg) c.3155C>G (p.Pro1052Arg) c.3125C>G (p.Pro1042Arg) c.2642C>G (p.Pro881Arg) c.2537C>G (p.Pro846Arg) | |
3 | g.122285079C>T | CA354161497 | CASR | c.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 |
3 | g.122285080A>C | CA435425620 | CASR | c.2895A>C (p.Pro965=) c.3156A>C (p.Pro1052=) c.3126A>C (p.Pro1042=) c.2643A>C (p.Pro881=) c.2538A>C (p.Pro846=) | |
3 | g.122285080A>G | CA435425622 | CASR | c.2895A>G (p.Pro965=) c.3156A>G (p.Pro1052=) c.3126A>G (p.Pro1042=) c.2643A>G (p.Pro881=) c.2538A>G (p.Pro846=) | |
3 | g.122285080A>T | CA435425621 | CASR | c.2895A>T (p.Pro965=) c.3156A>T (p.Pro1052=) c.3126A>T (p.Pro1042=) c.2643A>T (p.Pro881=) c.2538A>T (p.Pro846=) | |
3 | g.122285081del | CA2667224938 | CASR | c.2896del (p.Glu966ArgfsTer13) c.3157del (p.Glu1053ArgfsTer13) c.3127del (p.Glu1043ArgfsTer13) c.2644del (p.Glu882ArgfsTer13) c.2539del (p.Glu847ArgfsTer13) | gnomAD v4 |
3 | g.122285081G>A | CA354161499 | CASR | c.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 |
3 | g.122285081G>C | CA354161501 | CASR | c.2896G>C (p.Glu966Gln) c.3157G>C (p.Glu1053Gln) c.3127G>C (p.Glu1043Gln) c.2644G>C (p.Glu882Gln) c.2539G>C (p.Glu847Gln) | |
3 | g.122285081G>T | CA354161502 | CASR | c.2896G>T (p.Glu966Ter) c.3157G>T (p.Glu1053Ter) c.3127G>T (p.Glu1043Ter) c.2644G>T (p.Glu882Ter) c.2539G>T (p.Glu847Ter) | |
3 | g.122285082A= | CA1397873252 | CASR | c.2897A= (p.Glu966=) c.3158A= (p.Glu1053=) c.3128A= (p.Glu1043=) c.2645A= (p.Glu882=) c.2540A= (p.Glu847=) | |
3 | g.122285082A>C | CA354161505 | CASR | c.2897A>C (p.Glu966Ala) c.3158A>C (p.Glu1053Ala) c.3128A>C (p.Glu1043Ala) c.2645A>C (p.Glu882Ala) c.2540A>C (p.Glu847Ala) | |
3 | g.122285082A>G | CA354161507 | CASR | c.2897A>G (p.Glu966Gly) c.3158A>G (p.Glu1053Gly) c.3128A>G (p.Glu1043Gly) c.2645A>G (p.Glu882Gly) c.2540A>G (p.Glu847Gly) | |
3 | g.122285082A>T | CA2569935 | CASR | c.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 |
3 | g.122285083G>A | CA2569936 | CASR | c.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 |
3 | g.122285083G>C | CA354161510 | CASR | c.2898G>C (p.Glu966Asp) c.3159G>C (p.Glu1053Asp) c.3129G>C (p.Glu1043Asp) c.2646G>C (p.Glu882Asp) c.2541G>C (p.Glu847Asp) | |
3 | g.122285083G= | CA1397873254 | CASR | c.2898G= (p.Glu966=) c.3159G= (p.Glu1053=) c.3129G= (p.Glu1043=) c.2646G= (p.Glu882=) c.2541G= (p.Glu847=) | |
3 | g.122285083G>T | CA354161512 | CASR | c.2898G>T (p.Glu966Asp) c.3159G>T (p.Glu1053Asp) c.3129G>T (p.Glu1043Asp) c.2646G>T (p.Glu882Asp) c.2541G>T (p.Glu847Asp) | |
3 | g.122285084del | CA2667224939 | CASR | c.2899del (p.Val967TrpfsTer12) c.3160del (p.Val1054TrpfsTer12) c.3130del (p.Val1044TrpfsTer12) c.2647del (p.Val883TrpfsTer12) c.2542del (p.Val848TrpfsTer12) | gnomAD v4 |
3 | g.122285084G>A | CA354161514 | CASR | c.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 |
3 | g.122285084G>C | CA354161515 | CASR | c.2899G>C (p.Val967Leu) c.3160G>C (p.Val1054Leu) c.3130G>C (p.Val1044Leu) c.2647G>C (p.Val883Leu) c.2542G>C (p.Val848Leu) | |
3 | g.122285084G>T | CA354161517 | CASR | c.2899G>T (p.Val967Leu) c.3160G>T (p.Val1054Leu) c.3130G>T (p.Val1044Leu) c.2647G>T (p.Val883Leu) c.2542G>T (p.Val848Leu) | |
3 | g.122285085T>A | CA354161519 | CASR | c.2900T>A (p.Val967Glu) c.3161T>A (p.Val1054Glu) c.3131T>A (p.Val1044Glu) c.2648T>A (p.Val883Glu) c.2543T>A (p.Val848Glu) | |
3 | g.122285085T>C | CA354161521 | CASR | c.2900T>C (p.Val967Ala) c.3161T>C (p.Val1054Ala) c.3131T>C (p.Val1044Ala) c.2648T>C (p.Val883Ala) c.2543T>C (p.Val848Ala) | |
3 | g.122285085T>G | CA354161523 | CASR | c.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 |
3 | g.122285085T= | CA1397873256 | CASR | c.2900T= (p.Val967=) c.3161T= (p.Val1054=) c.3131T= (p.Val1044=) c.2648T= (p.Val883=) c.2543T= (p.Val848=) | |
3 | g.122285085dup | CA2667224940 | CASR | c.2900dup (p.Glu968GlyfsTer4) c.3161dup (p.Glu1055GlyfsTer4) c.3131dup (p.Glu1045GlyfsTer4) c.2648dup (p.Glu884GlyfsTer4) c.2543dup (p.Glu849GlyfsTer4) | gnomAD v4 |
3 | g.122285086G>A | CA2569937 | CASR | c.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 |
3 | g.122285086G>C | CA435425623 | CASR | c.2901G>C (p.Val967=) c.3162G>C (p.Val1054=) c.3132G>C (p.Val1044=) c.2649G>C (p.Val883=) c.2544G>C (p.Val848=) | |
3 | g.122285086G= | CA1397873258 | CASR | c.2901G= (p.Val967=) c.3162G= (p.Val1054=) c.3132G= (p.Val1044=) c.2649G= (p.Val883=) c.2544G= (p.Val848=) | |
3 | g.122285086G>T | CA435425624 | CASR | c.2901G>T (p.Val967=) c.3162G>T (p.Val1054=) c.3132G>T (p.Val1044=) c.2649G>T (p.Val883=) c.2544G>T (p.Val848=) | |
3 | g.122285087G>A | CA354161529 | CASR | c.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 |
3 | g.122285087G>C | CA354161528 | CASR | c.2902G>C (p.Glu968Gln) c.3163G>C (p.Glu1055Gln) c.3133G>C (p.Glu1045Gln) c.2650G>C (p.Glu884Gln) c.2545G>C (p.Glu849Gln) | |
3 | g.122285087G= | CA1397873261 | CASR | c.2902G= (p.Glu968=) c.3163G= (p.Glu1055=) c.3133G= (p.Glu1045=) c.2650G= (p.Glu884=) c.2545G= (p.Glu849=) | |
3 | g.122285087G>T | CA354161526 | CASR | c.2902G>T (p.Glu968Ter) c.3163G>T (p.Glu1055Ter) c.3133G>T (p.Glu1045Ter) c.2650G>T (p.Glu884Ter) c.2545G>T (p.Glu849Ter) | |
3 | g.122285088A>C | CA354161531 | CASR | c.2903A>C (p.Glu968Ala) c.3164A>C (p.Glu1055Ala) c.3134A>C (p.Glu1045Ala) c.2651A>C (p.Glu884Ala) c.2546A>C (p.Glu849Ala) | |
3 | g.122285088A>G | CA354161534 | CASR | c.2903A>G (p.Glu968Gly) c.3164A>G (p.Glu1055Gly) c.3134A>G (p.Glu1045Gly) c.2651A>G (p.Glu884Gly) c.2546A>G (p.Glu849Gly) | |
3 | g.122285088A>T | CA354161533 | CASR | c.2903A>T (p.Glu968Val) c.3164A>T (p.Glu1055Val) c.3134A>T (p.Glu1045Val) c.2651A>T (p.Glu884Val) c.2546A>T (p.Glu849Val) | |
3 | g.122285089G>A | CA2569939 | CASR | c.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 |
3 | g.122285089G>C | CA2569938 | CASR | c.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 |
3 | g.122285089G= | CA1397873263 | CASR | c.2904G= (p.Glu968=) c.3165G= (p.Glu1055=) c.3135G= (p.Glu1045=) c.2652G= (p.Glu884=) c.2547G= (p.Glu849=) | |
3 | g.122285089G>T | CA354161539 | CASR | c.2904G>T (p.Glu968Asp) c.3165G>T (p.Glu1055Asp) c.3135G>T (p.Glu1045Asp) c.2652G>T (p.Glu884Asp) c.2547G>T (p.Glu849Asp) | |
3 | g.122285090G>A | CA354161540 | CASR | c.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 |
3 | g.122285090G>C | CA354161542 | CASR | c.2905G>C (p.Asp969His) c.3166G>C (p.Asp1056His) c.3136G>C (p.Asp1046His) c.2653G>C (p.Asp885His) c.2548G>C (p.Asp850His) | |
3 | g.122285090G= | CA1397873265 | CASR | c.2905G= (p.Asp969=) c.3166G= (p.Asp1056=) c.3136G= (p.Asp1046=) c.2653G= (p.Asp885=) c.2548G= (p.Asp850=) | |
3 | g.122285090G>T | CA354161544 | CASR | c.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 |
3 | g.122285091A>C | CA354161545 | CASR | c.2906A>C (p.Asp969Ala) c.3167A>C (p.Asp1056Ala) c.3137A>C (p.Asp1046Ala) c.2654A>C (p.Asp885Ala) c.2549A>C (p.Asp850Ala) | |
3 | g.122285091A>G | CA354161547 | CASR | c.2906A>G (p.Asp969Gly) c.3167A>G (p.Asp1056Gly) c.3137A>G (p.Asp1046Gly) c.2654A>G (p.Asp885Gly) c.2549A>G (p.Asp850Gly) | |
3 | g.122285091A>T | CA354161549 | CASR | c.2906A>T (p.Asp969Val) c.3167A>T (p.Asp1056Val) c.3137A>T (p.Asp1046Val) c.2654A>T (p.Asp885Val) c.2549A>T (p.Asp850Val) | |
3 | g.122285092C>A | CA10582125 | CASR | c.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 |
3 | g.122285092C= | CA1397873267 | CASR | c.2907C= (p.Asp969=) c.3168C= (p.Asp1056=) c.3138C= (p.Asp1046=) c.2655C= (p.Asp885=) c.2550C= (p.Asp850=) | |
3 | g.122285092C>G | CA354161552 | CASR | c.2907C>G (p.Asp969Glu) c.3168C>G (p.Asp1056Glu) c.3138C>G (p.Asp1046Glu) c.2655C>G (p.Asp885Glu) c.2550C>G (p.Asp850Glu) | |
3 | g.122285092C>T | CA435425625 | CASR | c.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 |
3 | g.122285093C>A | CA354161557 | CASR | c.2908C>A (p.Pro970Thr) c.3169C>A (p.Pro1057Thr) c.3139C>A (p.Pro1047Thr) c.2656C>A (p.Pro886Thr) c.2551C>A (p.Pro851Thr) | |
3 | g.122285093C>G | CA354161553 | CASR | c.2908C>G (p.Pro970Ala) c.3169C>G (p.Pro1057Ala) c.3139C>G (p.Pro1047Ala) c.2656C>G (p.Pro886Ala) c.2551C>G (p.Pro851Ala) | |
3 | g.122285093C>T | CA354161555 | CASR | c.2908C>T (p.Pro970Ser) c.3169C>T (p.Pro1057Ser) c.3139C>T (p.Pro1047Ser) c.2656C>T (p.Pro886Ser) c.2551C>T (p.Pro851Ser) | |
3 | g.122285094C>A | CA354161559 | CASR | c.2909C>A (p.Pro970His) c.3170C>A (p.Pro1057His) c.3140C>A (p.Pro1047His) c.2657C>A (p.Pro886His) c.2552C>A (p.Pro851His) | |
3 | g.122285094C>G | CA354161560 | CASR | c.2909C>G (p.Pro970Arg) c.3170C>G (p.Pro1057Arg) c.3140C>G (p.Pro1047Arg) c.2657C>G (p.Pro886Arg) c.2552C>G (p.Pro851Arg) | |
3 | g.122285094C>T | CA354161562 | CASR | c.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 |
3 | g.122285095T>A | CA435425626 | CASR | c.2910T>A (p.Pro970=) c.3171T>A (p.Pro1057=) c.3141T>A (p.Pro1047=) c.2658T>A (p.Pro886=) c.2553T>A (p.Pro851=) | |
3 | g.122285095T>C | CA435425627 | CASR | c.2910T>C (p.Pro970=) c.3171T>C (p.Pro1057=) c.3141T>C (p.Pro1047=) c.2658T>C (p.Pro886=) c.2553T>C (p.Pro851=) | |
3 | g.122285095T>G | CA435425628 | CASR | c.2910T>G (p.Pro970=) c.3171T>G (p.Pro1057=) c.3141T>G (p.Pro1047=) c.2658T>G (p.Pro886=) c.2553T>G (p.Pro851=) | |
3 | g.122285096G>A | CA2569940 | CASR | c.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 |
3 | g.122285096G>C | CA354161565 | CASR | c.2911G>C (p.Glu971Gln) c.3172G>C (p.Glu1058Gln) c.3142G>C (p.Glu1048Gln) c.2659G>C (p.Glu887Gln) c.2554G>C (p.Glu852Gln) | |
3 | g.122285096G= | CA1397873269 | CASR | c.2911G= (p.Glu971=) c.3172G= (p.Glu1058=) c.3142G= (p.Glu1048=) c.2659G= (p.Glu887=) c.2554G= (p.Glu852=) | |
3 | g.122285096G>T | CA354161567 | CASR | c.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 |
3 | g.122285097A>C | CA354161569 | CASR | c.2912A>C (p.Glu971Ala) c.3173A>C (p.Glu1058Ala) c.3143A>C (p.Glu1048Ala) c.2660A>C (p.Glu887Ala) c.2555A>C (p.Glu852Ala) | |
3 | g.122285097A>G | CA354161570 | CASR | c.2912A>G (p.Glu971Gly) c.3173A>G (p.Glu1058Gly) c.3143A>G (p.Glu1048Gly) c.2660A>G (p.Glu887Gly) c.2555A>G (p.Glu852Gly) | |
3 | g.122285097A>T | CA354161572 | CASR | c.2912A>T (p.Glu971Val) c.3173A>T (p.Glu1058Val) c.3143A>T (p.Glu1048Val) c.2660A>T (p.Glu887Val) c.2555A>T (p.Glu852Val) | |
3 | g.122285098A>C | CA354161573 | CASR | c.2913A>C (p.Glu971Asp) c.3174A>C (p.Glu1058Asp) c.3144A>C (p.Glu1048Asp) c.2661A>C (p.Glu887Asp) c.2556A>C (p.Glu852Asp) | |
3 | g.122285098A>G | CA435425629 | CASR | c.2913A>G (p.Glu971=) c.3174A>G (p.Glu1058=) c.3144A>G (p.Glu1048=) c.2661A>G (p.Glu887=) c.2556A>G (p.Glu852=) | |
3 | g.122285098A>T | CA354161575 | CASR | c.2913A>T (p.Glu971Asp) c.3174A>T (p.Glu1058Asp) c.3144A>T (p.Glu1048Asp) c.2661A>T (p.Glu887Asp) c.2556A>T (p.Glu852Asp) | |
3 | g.122285099G>A | CA354161579 | CASR | c.2914G>A (p.Glu972Lys) c.3175G>A (p.Glu1059Lys) c.3145G>A (p.Glu1049Lys) c.2662G>A (p.Glu888Lys) c.2557G>A (p.Glu853Lys) | |
3 | g.122285099G>C | CA354161581 | CASR | c.2914G>C (p.Glu972Gln) c.3175G>C (p.Glu1059Gln) c.3145G>C (p.Glu1049Gln) c.2662G>C (p.Glu888Gln) c.2557G>C (p.Glu853Gln) | |
3 | g.122285099G>T | CA354161577 | CASR | c.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 |
3 | g.122285100A>C | CA354161583 | CASR | c.2915A>C (p.Glu972Ala) c.3176A>C (p.Glu1059Ala) c.3146A>C (p.Glu1049Ala) c.2663A>C (p.Glu888Ala) c.2558A>C (p.Glu853Ala) | |
3 | g.122285100A>G | CA354161584 | CASR | c.2915A>G (p.Glu972Gly) c.3176A>G (p.Glu1059Gly) c.3146A>G (p.Glu1049Gly) c.2663A>G (p.Glu888Gly) c.2558A>G (p.Glu853Gly) | |
3 | g.122285100A>T | CA354161586 | CASR | c.2915A>T (p.Glu972Val) c.3176A>T (p.Glu1059Val) c.3146A>T (p.Glu1049Val) c.2663A>T (p.Glu888Val) c.2558A>T (p.Glu853Val) | |
3 | g.122285101G>A | CA435425630 | CASR | c.2916G>A (p.Glu972=) c.3177G>A (p.Glu1059=) c.3147G>A (p.Glu1049=) c.2664G>A (p.Glu888=) c.2559G>A (p.Glu853=) | |
3 | g.122285101G>C | CA354161588 | CASR | c.2916G>C (p.Glu972Asp) c.3177G>C (p.Glu1059Asp) c.3147G>C (p.Glu1049Asp) c.2664G>C (p.Glu888Asp) c.2559G>C (p.Glu853Asp) | |
3 | g.122285101G>T | CA354161589 | CASR | c.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 |
3 | g.122285102T>A | CA354161590 | CASR | c.2917T>A (p.Leu973Met) c.3178T>A (p.Leu1060Met) c.3148T>A (p.Leu1050Met) c.2665T>A (p.Leu889Met) c.2560T>A (p.Leu854Met) | |
3 | g.122285102T>C | CA435425631 | CASR | c.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 |
3 | g.122285102T>G | CA354161592 | CASR | c.2917T>G (p.Leu973Val) c.3178T>G (p.Leu1060Val) c.3148T>G (p.Leu1050Val) c.2665T>G (p.Leu889Val) c.2560T>G (p.Leu854Val) | |
3 | g.122285102T= | CA1397873272 | CASR | c.2917T= (p.Leu973=) c.3178T= (p.Leu1060=) c.3148T= (p.Leu1050=) c.2665T= (p.Leu889=) c.2560T= (p.Leu854=) | |
3 | g.122285103T>A | CA354161594 | CASR | c.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 |
3 | g.122285103T>C | CA354161596 | CASR | c.2918T>C (p.Leu973Ser) c.3179T>C (p.Leu1060Ser) c.3149T>C (p.Leu1050Ser) c.2666T>C (p.Leu889Ser) c.2561T>C (p.Leu854Ser) | |
3 | g.122285103T>G | CA354161597 | CASR | c.2918T>G (p.Leu973Trp) c.3179T>G (p.Leu1060Trp) c.3149T>G (p.Leu1050Trp) c.2666T>G (p.Leu889Trp) c.2561T>G (p.Leu854Trp) | |
3 | g.122285104G>A | CA435425632 | CASR | c.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 |
3 | g.122285104G>C | CA354161599 | CASR | c.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 |
3 | g.122285104G>T | CA354161601 | CASR | c.2919G>T (p.Leu973Phe) c.3180G>T (p.Leu1060Phe) c.3150G>T (p.Leu1050Phe) c.2667G>T (p.Leu889Phe) c.2562G>T (p.Leu854Phe) | |
3 | g.122285105T>A | CA354161605 | CASR | c.2920T>A (p.Ser974Thr) c.3181T>A (p.Ser1061Thr) c.3151T>A (p.Ser1051Thr) c.2668T>A (p.Ser890Thr) c.2563T>A (p.Ser855Thr) | |
3 | g.122285105T>C | CA2569941 | CASR | c.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 |
3 | g.122285105T>G | CA354161603 | CASR | c.2920T>G (p.Ser974Ala) c.3181T>G (p.Ser1061Ala) c.3151T>G (p.Ser1051Ala) c.2668T>G (p.Ser890Ala) c.2563T>G (p.Ser855Ala) | |
3 | g.122285105T= | CA1397873274 | CASR | c.2920T= (p.Ser974=) c.3181T= (p.Ser1061=) c.3151T= (p.Ser1051=) c.2668T= (p.Ser890=) c.2563T= (p.Ser855=) | |
3 | g.122285106C>A | CA354161608 | CASR | c.2921C>A (p.Ser974Tyr) c.3182C>A (p.Ser1061Tyr) c.3152C>A (p.Ser1051Tyr) c.2669C>A (p.Ser890Tyr) c.2564C>A (p.Ser855Tyr) | |
3 | g.122285106C>G | CA354161609 | CASR | c.2921C>G (p.Ser974Cys) c.3182C>G (p.Ser1061Cys) c.3152C>G (p.Ser1051Cys) c.2669C>G (p.Ser890Cys) c.2564C>G (p.Ser855Cys) | |
3 | g.122285106C>T | CA354161611 | CASR | c.2921C>T (p.Ser974Phe) c.3182C>T (p.Ser1061Phe) c.3152C>T (p.Ser1051Phe) c.2669C>T (p.Ser890Phe) c.2564C>T (p.Ser855Phe) | |
3 | g.122285107C>A | CA435425633 | CASR | c.2922C>A (p.Ser974=) c.3183C>A (p.Ser1061=) c.3153C>A (p.Ser1051=) c.2670C>A (p.Ser890=) c.2565C>A (p.Ser855=) | |
3 | g.122285107C= | CA1397873275 | CASR | c.2922C= (p.Ser974=) c.3183C= (p.Ser1061=) c.3153C= (p.Ser1051=) c.2670C= (p.Ser890=) c.2565C= (p.Ser855=) | |
3 | g.122285107C>G | CA435425635 | CASR | c.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 |
3 | g.122285107C>T | CA435425634 | CASR | c.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 |
3 | g.122285108C>A | CA354161613 | CASR | c.2923C>A (p.Pro975Thr) c.3184C>A (p.Pro1062Thr) c.3154C>A (p.Pro1052Thr) c.2671C>A (p.Pro891Thr) c.2566C>A (p.Pro856Thr) | |
3 | g.122285108C>G | CA354161615 | CASR | c.2923C>G (p.Pro975Ala) c.3184C>G (p.Pro1062Ala) c.3154C>G (p.Pro1052Ala) c.2671C>G (p.Pro891Ala) c.2566C>G (p.Pro856Ala) | |
3 | g.122285108C>T | CA354161617 | CASR | c.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 |
3 | g.122285109C>A | CA354161619 | CASR | c.2924C>A (p.Pro975Gln) c.3185C>A (p.Pro1062Gln) c.3155C>A (p.Pro1052Gln) c.2672C>A (p.Pro891Gln) c.2567C>A (p.Pro856Gln) | |
3 | g.122285109C>G | CA354161623 | CASR | c.2924C>G (p.Pro975Arg) c.3185C>G (p.Pro1062Arg) c.3155C>G (p.Pro1052Arg) c.2672C>G (p.Pro891Arg) c.2567C>G (p.Pro856Arg) | |
3 | g.122285109C>T | CA354161621 | CASR | c.2924C>T (p.Pro975Leu) c.3185C>T (p.Pro1062Leu) c.3155C>T (p.Pro1052Leu) c.2672C>T (p.Pro891Leu) c.2567C>T (p.Pro856Leu) | |
3 | g.122285110A= | CA1397873278 | CASR | c.2925A= (p.Pro975=) c.3186A= (p.Pro1062=) c.3156A= (p.Pro1052=) c.2673A= (p.Pro891=) c.2568A= (p.Pro856=) | |
3 | g.122285110A>C | CA82749593 | CASR | c.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 |
3 | g.122285110A>G | CA2569942 | CASR | c.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 |
3 | g.122285110A>T | CA435425636 | CASR | c.2925A>T (p.Pro975=) c.3186A>T (p.Pro1062=) c.3156A>T (p.Pro1052=) c.2673A>T (p.Pro891=) c.2568A>T (p.Pro856=) | |
3 | g.122285111G>A | CA354161626 | CASR | c.2926G>A (p.Ala976Thr) c.3187G>A (p.Ala1063Thr) c.3157G>A (p.Ala1053Thr) c.2674G>A (p.Ala892Thr) c.2569G>A (p.Ala857Thr) | |
3 | g.122285111G>C | CA354161628 | CASR | c.2926G>C (p.Ala976Pro) c.3187G>C (p.Ala1063Pro) c.3157G>C (p.Ala1053Pro) c.2674G>C (p.Ala892Pro) c.2569G>C (p.Ala857Pro) | |
3 | g.122285111G>T | CA354161629 | CASR | c.2926G>T (p.Ala976Ser) c.3187G>T (p.Ala1063Ser) c.3157G>T (p.Ala1053Ser) c.2674G>T (p.Ala892Ser) c.2569G>T (p.Ala857Ser) | |
3 | g.122285112C>A | CA354161633 | CASR | c.2927C>A (p.Ala976Glu) c.3188C>A (p.Ala1063Glu) c.3158C>A (p.Ala1053Glu) c.2675C>A (p.Ala892Glu) c.2570C>A (p.Ala857Glu) | |
3 | g.122285112C>G | CA354161635 | CASR | c.2927C>G (p.Ala976Gly) c.3188C>G (p.Ala1063Gly) c.3158C>G (p.Ala1053Gly) c.2675C>G (p.Ala892Gly) c.2570C>G (p.Ala857Gly) | |
3 | g.122285112C>T | CA354161631 | CASR | c.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 |
3 | g.122285113A= | CA1397873279 | CASR | c.2928A= (p.Ala976=) c.3189A= (p.Ala1063=) c.3159A= (p.Ala1053=) c.2676A= (p.Ala892=) c.2571A= (p.Ala857=) | |
3 | g.122285113A>C | CA82749604 | CASR | c.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 |
3 | g.122285113A>G | CA435425638 | CASR | c.2928A>G (p.Ala976=) c.3189A>G (p.Ala1063=) c.3159A>G (p.Ala1053=) c.2676A>G (p.Ala892=) c.2571A>G (p.Ala857=) | |
3 | g.122285113A>T | CA435425637 | CASR | c.2928A>T (p.Ala976=) c.3189A>T (p.Ala1063=) c.3159A>T (p.Ala1053=) c.2676A>T (p.Ala892=) c.2571A>T (p.Ala857=) | |
3 | g.122285114C>A | CA354161638 | CASR | c.2929C>A (p.Leu977Ile) c.3190C>A (p.Leu1064Ile) c.3160C>A (p.Leu1054Ile) c.2677C>A (p.Leu893Ile) c.2572C>A (p.Leu858Ile) | |
3 | g.122285114C>G | CA354161636 | CASR | c.2929C>G (p.Leu977Val) c.3190C>G (p.Leu1064Val) c.3160C>G (p.Leu1054Val) c.2677C>G (p.Leu893Val) c.2572C>G (p.Leu858Val) | |
3 | g.122285114C>T | CA354161640 | CASR | c.2929C>T (p.Leu977Phe) c.3190C>T (p.Leu1064Phe) c.3160C>T (p.Leu1054Phe) c.2677C>T (p.Leu893Phe) c.2572C>T (p.Leu858Phe) | |
3 | g.122285115T>A | CA354161642 | CASR | c.2930T>A (p.Leu977His) c.3191T>A (p.Leu1064His) c.3161T>A (p.Leu1054His) c.2678T>A (p.Leu893His) c.2573T>A (p.Leu858His) | |
3 | g.122285115T>C | CA354161646 | CASR | c.2930T>C (p.Leu977Pro) c.3191T>C (p.Leu1064Pro) c.3161T>C (p.Leu1054Pro) c.2678T>C (p.Leu893Pro) c.2573T>C (p.Leu858Pro) | |
3 | g.122285115T>G | CA354161644 | CASR | c.2930T>G (p.Leu977Arg) c.3191T>G (p.Leu1064Arg) c.3161T>G (p.Leu1054Arg) c.2678T>G (p.Leu893Arg) c.2573T>G (p.Leu858Arg) | |
3 | g.122285116T>A | CA435425639 | CASR | c.2931T>A (p.Leu977=) c.3192T>A (p.Leu1064=) c.3162T>A (p.Leu1054=) c.2679T>A (p.Leu893=) c.2574T>A (p.Leu858=) | |
3 | g.122285116T>C | CA435425640 | CASR | c.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 |
3 | g.122285116T>G | CA435425641 | CASR | c.2931T>G (p.Leu977=) c.3192T>G (p.Leu1064=) c.3162T>G (p.Leu1054=) c.2679T>G (p.Leu893=) c.2574T>G (p.Leu858=) | |
3 | g.122285116T= | CA1397873281 | CASR | c.2931T= (p.Leu977=) c.3192T= (p.Leu1064=) c.3162T= (p.Leu1054=) c.2679T= (p.Leu893=) c.2574T= (p.Leu858=) | |
3 | g.122285117G>A | CA354161648 | CASR | c.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 |
3 | g.122285117G>C | CA354161650 | CASR | c.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 |
3 | g.122285117G= | CA1397873283 | CASR | c.2932G= (p.Val978=) c.3193G= (p.Val1065=) c.3163G= (p.Val1055=) c.2680G= (p.Val894=) c.2575G= (p.Val859=) | |
3 | g.122285117G>T | CA354161652 | CASR | c.2932G>T (p.Val978Leu) c.3193G>T (p.Val1065Leu) c.3163G>T (p.Val1055Leu) c.2680G>T (p.Val894Leu) c.2575G>T (p.Val859Leu) | |
3 | g.122285118T>A | CA354161654 | CASR | c.2933T>A (p.Val978Glu) c.3194T>A (p.Val1065Glu) c.3164T>A (p.Val1055Glu) c.2681T>A (p.Val894Glu) c.2576T>A (p.Val859Glu) | |
3 | g.122285118T>C | CA354161656 | CASR | c.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 |
3 | g.122285118T>G | CA354161658 | CASR | c.2933T>G (p.Val978Gly) c.3194T>G (p.Val1065Gly) c.3164T>G (p.Val1055Gly) c.2681T>G (p.Val894Gly) c.2576T>G (p.Val859Gly) | |
3 | g.122285118T= | CA1397873285 | CASR | c.2933T= (p.Val978=) c.3194T= (p.Val1065=) c.3164T= (p.Val1055=) c.2681T= (p.Val894=) c.2576T= (p.Val859=) | |
3 | g.122285119A= | CA1397873286 | CASR | c.2934A= (p.Val978=) c.3195A= (p.Val1065=) c.3165A= (p.Val1055=) c.2682A= (p.Val894=) c.2577A= (p.Val859=) | |
3 | g.122285119A>C | CA435425642 | CASR | c.2934A>C (p.Val978=) c.3195A>C (p.Val1065=) c.3165A>C (p.Val1055=) c.2682A>C (p.Val894=) c.2577A>C (p.Val859=) | |
3 | g.122285119A>G | CA435425643 | CASR | c.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 |
3 | g.122285119A>T | CA435425644 | CASR | c.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 |
3 | g.122285120G>A | CA354161660 | CASR | c.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 |
3 | g.122285120G>C | CA354161662 | CASR | c.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 |
3 | g.122285120G= | CA1397873288 | CASR | c.2935G= (p.Val979=) c.3196G= (p.Val1066=) c.3166G= (p.Val1056=) c.2683G= (p.Val895=) c.2578G= (p.Val860=) | |
3 | g.122285120G>T | CA354161664 | CASR | c.2935G>T (p.Val979Leu) c.3196G>T (p.Val1066Leu) c.3166G>T (p.Val1056Leu) c.2683G>T (p.Val895Leu) c.2578G>T (p.Val860Leu) | |
3 | g.122285121T>A | CA354161666 | CASR | c.2936T>A (p.Val979Glu) c.3197T>A (p.Val1066Glu) c.3167T>A (p.Val1056Glu) c.2684T>A (p.Val895Glu) c.2579T>A (p.Val860Glu) | |
3 | g.122285121T>C | CA82749616 | CASR | c.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 |
3 | g.122285121T>G | CA354161669 | CASR | c.2936T>G (p.Val979Gly) c.3197T>G (p.Val1066Gly) c.3167T>G (p.Val1056Gly) c.2684T>G (p.Val895Gly) c.2579T>G (p.Val860Gly) | |
3 | g.122285121T= | CA1397873289 | CASR | c.2936T= (p.Val979=) c.3197T= (p.Val1066=) c.3167T= (p.Val1056=) c.2684T= (p.Val895=) c.2579T= (p.Val860=) | |
3 | g.122285122G>A | CA435425646 | CASR | c.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 |
3 | g.122285122G>C | CA435425645 | CASR | c.2937G>C (p.Val979=) c.3198G>C (p.Val1066=) c.3168G>C (p.Val1056=) c.2685G>C (p.Val895=) c.2580G>C (p.Val860=) | |
3 | g.122285122G= | CA1397873291 | CASR | c.2937G= (p.Val979=) c.3198G= (p.Val1066=) c.3168G= (p.Val1056=) c.2685G= (p.Val895=) c.2580G= (p.Val860=) | |
3 | g.122285122G>T | CA10614607 | CASR | c.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 |
3 | g.122285123T>A | CA354161672 | CASR | c.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 |
3 | g.122285123T>C | CA354161674 | CASR | c.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 |
3 | g.122285123T>G | CA354161676 | CASR | c.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 |
3 | g.122285123T= | CA1397873294 | CASR | c.2938T= (p.Ser980=) c.3199T= (p.Ser1067=) c.3169T= (p.Ser1057=) c.2686T= (p.Ser896=) c.2581T= (p.Ser861=) | |
3 | g.122285124C>A | CA354161678 | CASR | c.2939C>A (p.Ser980Tyr) c.3200C>A (p.Ser1067Tyr) c.3170C>A (p.Ser1057Tyr) c.2687C>A (p.Ser896Tyr) c.2582C>A (p.Ser861Tyr) | |
3 | g.122285124C>G | CA354161680 | CASR | c.2939C>G (p.Ser980Cys) c.3200C>G (p.Ser1067Cys) c.3170C>G (p.Ser1057Cys) c.2687C>G (p.Ser896Cys) c.2582C>G (p.Ser861Cys) | |
3 | g.122285124C>T | CA354161682 | CASR | c.2939C>T (p.Ser980Phe) c.3200C>T (p.Ser1067Phe) c.3170C>T (p.Ser1057Phe) c.2687C>T (p.Ser896Phe) c.2582C>T (p.Ser861Phe) | |
3 | g.122285125C>A | CA435425647 | CASR | c.2940C>A (p.Ser980=) c.3201C>A (p.Ser1067=) c.3171C>A (p.Ser1057=) c.2688C>A (p.Ser896=) c.2583C>A (p.Ser861=) | |
3 | g.122285125C>G | CA435425648 | CASR | c.2940C>G (p.Ser980=) c.3201C>G (p.Ser1067=) c.3171C>G (p.Ser1057=) c.2688C>G (p.Ser896=) c.2583C>G (p.Ser861=) | |
3 | g.122285125C>T | CA435425649 | CASR | c.2940C>T (p.Ser980=) c.3201C>T (p.Ser1067=) c.3171C>T (p.Ser1057=) c.2688C>T (p.Ser896=) c.2583C>T (p.Ser861=) | |
3 | g.122285126A= | CA1397873296 | CASR | c.2941A= (p.Ser981=) c.3202A= (p.Ser1068=) c.3172A= (p.Ser1058=) c.2689A= (p.Ser897=) c.2584A= (p.Ser862=) | |
3 | g.122285126A>C | CA354161684 | CASR | c.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 |
3 | g.122285126A>G | CA354161686 | CASR | c.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 |
3 | g.122285126A>T | CA354161688 | CASR | c.2941A>T (p.Ser981Cys) c.3202A>T (p.Ser1068Cys) c.3172A>T (p.Ser1058Cys) c.2689A>T (p.Ser897Cys) c.2584A>T (p.Ser862Cys) | |
3 | g.122285127G>A | CA354161690 | CASR | c.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 |
3 | g.122285127G>C | CA354161691 | CASR | c.2942G>C (p.Ser981Thr) c.3203G>C (p.Ser1068Thr) c.3173G>C (p.Ser1058Thr) c.2690G>C (p.Ser897Thr) c.2585G>C (p.Ser862Thr) | |
3 | g.122285127G= | CA1397873297 | CASR | c.2942G= (p.Ser981=) c.3203G= (p.Ser1068=) c.3173G= (p.Ser1058=) c.2690G= (p.Ser897=) c.2585G= (p.Ser862=) | |
3 | g.122285127G>T | CA354161693 | CASR | c.2942G>T (p.Ser981Ile) c.3203G>T (p.Ser1068Ile) c.3173G>T (p.Ser1058Ile) c.2690G>T (p.Ser897Ile) c.2585G>T (p.Ser862Ile) | |
3 | g.122285128T>A | CA354161695 | CASR | c.2943T>A (p.Ser981Arg) c.3204T>A (p.Ser1068Arg) c.3174T>A (p.Ser1058Arg) c.2691T>A (p.Ser897Arg) c.2586T>A (p.Ser862Arg) | |
3 | g.122285128T>C | CA435425650 | CASR | c.2943T>C (p.Ser981=) c.3204T>C (p.Ser1068=) c.3174T>C (p.Ser1058=) c.2691T>C (p.Ser897=) c.2586T>C (p.Ser862=) | |
3 | g.122285128T>G | CA354161697 | CASR | c.2943T>G (p.Ser981Arg) c.3204T>G (p.Ser1068Arg) c.3174T>G (p.Ser1058Arg) c.2691T>G (p.Ser897Arg) c.2586T>G (p.Ser862Arg) | |
3 | g.122285129T>A | CA354161703 | CASR | c.2944T>A (p.Ser982Thr) c.3205T>A (p.Ser1069Thr) c.3175T>A (p.Ser1059Thr) c.2692T>A (p.Ser898Thr) c.2587T>A (p.Ser863Thr) | |
3 | g.122285129T>C | CA354161699 | CASR | c.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 |
3 | g.122285129T>G | CA354161701 | CASR | c.2944T>G (p.Ser982Ala) c.3205T>G (p.Ser1069Ala) c.3175T>G (p.Ser1059Ala) c.2692T>G (p.Ser898Ala) c.2587T>G (p.Ser863Ala) | |
3 | g.122285130C>A | CA354161704 | CASR | c.2945C>A (p.Ser982Ter) c.3206C>A (p.Ser1069Ter) c.3176C>A (p.Ser1059Ter) c.2693C>A (p.Ser898Ter) c.2588C>A (p.Ser863Ter) | |
3 | g.122285130C>G | CA354161705 | CASR | c.2945C>G (p.Ser982Ter) c.3206C>G (p.Ser1069Ter) c.3176C>G (p.Ser1059Ter) c.2693C>G (p.Ser898Ter) c.2588C>G (p.Ser863Ter) | |
3 | g.122285130C>T | CA354161707 | CASR | c.2945C>T (p.Ser982Leu) c.3206C>T (p.Ser1069Leu) c.3176C>T (p.Ser1059Leu) c.2693C>T (p.Ser898Leu) c.2588C>T (p.Ser863Leu) | |
3 | g.122285131A>C | CA435425651 | CASR | c.2946A>C (p.Ser982=) c.3207A>C (p.Ser1069=) c.3177A>C (p.Ser1059=) c.2694A>C (p.Ser898=) c.2589A>C (p.Ser863=) | |
3 | g.122285131A>G | CA435425652 | CASR | c.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 |
3 | g.122285131A>T | CA435425653 | CASR | c.2946A>T (p.Ser982=) c.3207A>T (p.Ser1069=) c.3177A>T (p.Ser1059=) c.2694A>T (p.Ser898=) c.2589A>T (p.Ser863=) | |
3 | g.122285132C>A | CA354161709 | CASR | c.2947C>A (p.Gln983Lys) c.3208C>A (p.Gln1070Lys) c.3178C>A (p.Gln1060Lys) c.2695C>A (p.Gln899Lys) c.2590C>A (p.Gln864Lys) | |
3 | g.122285132C>G | CA354161711 | CASR | c.2947C>G (p.Gln983Glu) c.3208C>G (p.Gln1070Glu) c.3178C>G (p.Gln1060Glu) c.2695C>G (p.Gln899Glu) c.2590C>G (p.Gln864Glu) | |
3 | g.122285132C>T | CA354161712 | CASR | c.2947C>T (p.Gln983Ter) c.3208C>T (p.Gln1070Ter) c.3178C>T (p.Gln1060Ter) c.2695C>T (p.Gln899Ter) c.2590C>T (p.Gln864Ter) | |
3 | g.122285133A>C | CA354161719 | CASR | c.2948A>C (p.Gln983Pro) c.3209A>C (p.Gln1070Pro) c.3179A>C (p.Gln1060Pro) c.2696A>C (p.Gln899Pro) c.2591A>C (p.Gln864Pro) | |
3 | g.122285133A>G | CA354161715 | CASR | c.2948A>G (p.Gln983Arg) c.3209A>G (p.Gln1070Arg) c.3179A>G (p.Gln1060Arg) c.2696A>G (p.Gln899Arg) c.2591A>G (p.Gln864Arg) | |
3 | g.122285133A>T | CA354161717 | CASR | c.2948A>T (p.Gln983Leu) c.3209A>T (p.Gln1070Leu) c.3179A>T (p.Gln1060Leu) c.2696A>T (p.Gln899Leu) c.2591A>T (p.Gln864Leu) | |
3 | g.122285133_122285142del | CA2667224941 | CASR | c.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 |
3 | g.122285134G>A | CA435425654 | CASR | c.2949G>A (p.Gln983=) c.3210G>A (p.Gln1070=) c.3180G>A (p.Gln1060=) c.2697G>A (p.Gln899=) c.2592G>A (p.Gln864=) | |
3 | g.122285134G>C | CA354161721 | CASR | c.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 |
3 | g.122285134G>T | CA354161723 | CASR | c.2949G>T (p.Gln983His) c.3210G>T (p.Gln1070His) c.3180G>T (p.Gln1060His) c.2697G>T (p.Gln899His) c.2592G>T (p.Gln864His) | |
3 | g.122285135A>C | CA354161724 | CASR | c.2950A>C (p.Ser984Arg) c.3211A>C (p.Ser1071Arg) c.3181A>C (p.Ser1061Arg) c.2698A>C (p.Ser900Arg) c.2593A>C (p.Ser865Arg) | |
3 | g.122285135A>G | CA354161725 | CASR | c.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 |
3 | g.122285135A>T | CA354161726 | CASR | c.2950A>T (p.Ser984Cys) c.3211A>T (p.Ser1071Cys) c.3181A>T (p.Ser1061Cys) c.2698A>T (p.Ser900Cys) c.2593A>T (p.Ser865Cys) | |
3 | g.122285136G>A | CA354161727 | CASR | c.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 |
3 | g.122285136G>C | CA354161729 | CASR | c.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 |
3 | g.122285136G= | CA1397873298 | CASR | c.2951G= (p.Ser984=) c.3212G= (p.Ser1071=) c.3182G= (p.Ser1061=) c.2699G= (p.Ser900=) c.2594G= (p.Ser865=) | |
3 | g.122285136G>T | CA354161728 | CASR | c.2951G>T (p.Ser984Ile) c.3212G>T (p.Ser1071Ile) c.3182G>T (p.Ser1061Ile) c.2699G>T (p.Ser900Ile) c.2594G>T (p.Ser865Ile) | |
3 | g.122285137C>A | CA354161730 | CASR | c.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 |
3 | g.122285137C>G | CA354161731 | CASR | c.2952C>G (p.Ser984Arg) c.3213C>G (p.Ser1071Arg) c.3183C>G (p.Ser1061Arg) c.2700C>G (p.Ser900Arg) c.2595C>G (p.Ser865Arg) | |
3 | g.122285137C>T | CA435425658 | CASR | c.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 |
3 | g.122285138T>A | CA354161732 | CASR | c.2953T>A (p.Phe985Ile) c.3214T>A (p.Phe1072Ile) c.3184T>A (p.Phe1062Ile) c.2701T>A (p.Phe901Ile) c.2596T>A (p.Phe866Ile) | |
3 | g.122285138T>C | CA354161733 | CASR | c.2953T>C (p.Phe985Leu) c.3214T>C (p.Phe1072Leu) c.3184T>C (p.Phe1062Leu) c.2701T>C (p.Phe901Leu) c.2596T>C (p.Phe866Leu) | |
3 | g.122285138T>G | CA354161734 | CASR | c.2953T>G (p.Phe985Val) c.3214T>G (p.Phe1072Val) c.3184T>G (p.Phe1062Val) c.2701T>G (p.Phe901Val) c.2596T>G (p.Phe866Val) | |
3 | g.122285139T>A | CA354161735 | CASR | c.2954T>A (p.Phe985Tyr) c.3215T>A (p.Phe1072Tyr) c.3185T>A (p.Phe1062Tyr) c.2702T>A (p.Phe901Tyr) c.2597T>A (p.Phe866Tyr) | |
3 | g.122285139T>C | CA354161736 | CASR | c.2954T>C (p.Phe985Ser) c.3215T>C (p.Phe1072Ser) c.3185T>C (p.Phe1062Ser) c.2702T>C (p.Phe901Ser) c.2597T>C (p.Phe866Ser) | |
3 | g.122285139T>G | CA354161737 | CASR | c.2954T>G (p.Phe985Cys) c.3215T>G (p.Phe1072Cys) c.3185T>G (p.Phe1062Cys) c.2702T>G (p.Phe901Cys) c.2597T>G (p.Phe866Cys) | |
3 | g.122285140T>A | CA354161738 | CASR | c.2955T>A (p.Phe985Leu) c.3216T>A (p.Phe1072Leu) c.3186T>A (p.Phe1062Leu) c.2703T>A (p.Phe901Leu) c.2598T>A (p.Phe866Leu) | |
3 | g.122285140T>C | CA2569943 | CASR | c.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 |
3 | g.122285140T>G | CA354161739 | CASR | c.2955T>G (p.Phe985Leu) c.3216T>G (p.Phe1072Leu) c.3186T>G (p.Phe1062Leu) c.2703T>G (p.Phe901Leu) c.2598T>G (p.Phe866Leu) | |
3 | g.122285140T= | CA1397873300 | CASR | c.2955T= (p.Phe985=) c.3216T= (p.Phe1072=) c.3186T= (p.Phe1062=) c.2703T= (p.Phe901=) c.2598T= (p.Phe866=) | |
3 | g.122285141G>A | CA2569944 | CASR | c.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 |
3 | g.122285141G>C | CA354161741 | CASR | c.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 |
3 | g.122285141G= | CA1397873301 | CASR | c.2956G= (p.Val986=) c.3217G= (p.Val1073=) c.3187G= (p.Val1063=) c.2704G= (p.Val902=) c.2599G= (p.Val867=) | |
3 | g.122285141G>T | CA354161740 | CASR | c.2956G>T (p.Val986Phe) c.3217G>T (p.Val1073Phe) c.3187G>T (p.Val1063Phe) c.2704G>T (p.Val902Phe) c.2599G>T (p.Val867Phe) | |
3 | g.122285142T>A | CA354161742 | CASR | c.2957T>A (p.Val986Asp) c.3218T>A (p.Val1073Asp) c.3188T>A (p.Val1063Asp) c.2705T>A (p.Val902Asp) c.2600T>A (p.Val867Asp) | |
3 | g.122285142T>C | CA354161744 | CASR | c.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 |
3 | g.122285142T>G | CA354161743 | CASR | c.2957T>G (p.Val986Gly) c.3218T>G (p.Val1073Gly) c.3188T>G (p.Val1063Gly) c.2705T>G (p.Val902Gly) c.2600T>G (p.Val867Gly) | |
3 | g.122285143C>A | CA435425664 | CASR | c.2958C>A (p.Val986=) c.3219C>A (p.Val1073=) c.3189C>A (p.Val1063=) c.2706C>A (p.Val902=) c.2601C>A (p.Val867=) | |
3 | g.122285143C>G | CA435425663 | CASR | c.2958C>G (p.Val986=) c.3219C>G (p.Val1073=) c.3189C>G (p.Val1063=) c.2706C>G (p.Val902=) c.2601C>G (p.Val867=) | |
3 | g.122285143C>T | CA435425662 | CASR | c.2958C>T (p.Val986=) c.3219C>T (p.Val1073=) c.3189C>T (p.Val1063=) c.2706C>T (p.Val902=) c.2601C>T (p.Val867=) | |
3 | g.122285144A>C | CA354161745 | CASR | c.2959A>C (p.Ile987Leu) c.3220A>C (p.Ile1074Leu) c.3190A>C (p.Ile1064Leu) c.2707A>C (p.Ile903Leu) c.2602A>C (p.Ile868Leu) | |
3 | g.122285144A>G | CA354161746 | CASR | c.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 |
3 | g.122285144A>T | CA354161747 | CASR | c.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 |
3 | g.122285145T>A | CA354161748 | CASR | c.2960T>A (p.Ile987Asn) c.3221T>A (p.Ile1074Asn) c.3191T>A (p.Ile1064Asn) c.2708T>A (p.Ile903Asn) c.2603T>A (p.Ile868Asn) | |
3 | g.122285145T>C | CA354161749 | CASR | c.2960T>C (p.Ile987Thr) c.3221T>C (p.Ile1074Thr) c.3191T>C (p.Ile1064Thr) c.2708T>C (p.Ile903Thr) c.2603T>C (p.Ile868Thr) | |
3 | g.122285145T>G | CA354161750 | CASR | c.2960T>G (p.Ile987Ser) c.3221T>G (p.Ile1074Ser) c.3191T>G (p.Ile1064Ser) c.2708T>G (p.Ile903Ser) c.2603T>G (p.Ile868Ser) | |
3 | g.122285146C>A | CA435425666 | CASR | c.2961C>A (p.Ile987=) c.3222C>A (p.Ile1074=) c.3192C>A (p.Ile1064=) c.2709C>A (p.Ile903=) c.2604C>A (p.Ile868=) | |
3 | g.122285146C>G | CA354161751 | CASR | c.2961C>G (p.Ile987Met) c.3222C>G (p.Ile1074Met) c.3192C>G (p.Ile1064Met) c.2709C>G (p.Ile903Met) c.2604C>G (p.Ile868Met) | |
3 | g.122285146C>T | CA435425667 | CASR | c.2961C>T (p.Ile987=) c.3222C>T (p.Ile1074=) c.3192C>T (p.Ile1064=) c.2709C>T (p.Ile903=) c.2604C>T (p.Ile868=) | |
3 | g.122285147del | CA2586972879 | CASR | c.2962del (p.Ser988ValfsTer11) c.3223del (p.Ser1075ValfsTer11) c.3193del (p.Ser1065ValfsTer11) c.2710del (p.Ser904ValfsTer11) c.2605del (p.Ser869ValfsTer11) | |
3 | g.122285147A= | CA1397873303 | CASR | c.2962A= (p.Ser988=) c.3223A= (p.Ser1075=) c.3193A= (p.Ser1065=) c.2710A= (p.Ser904=) c.2605A= (p.Ser869=) | |
3 | g.122285147A>C | CA354161752 | CASR | c.2962A>C (p.Ser988Arg) c.3223A>C (p.Ser1075Arg) c.3193A>C (p.Ser1065Arg) c.2710A>C (p.Ser904Arg) c.2605A>C (p.Ser869Arg) | |
3 | g.122285147A>G | CA2569945 | CASR | c.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 |
3 | g.122285147A>T | CA354161753 | CASR | c.2962A>T (p.Ser988Cys) c.3223A>T (p.Ser1075Cys) c.3193A>T (p.Ser1065Cys) c.2710A>T (p.Ser904Cys) c.2605A>T (p.Ser869Cys) | |
3 | g.122285148G>A | CA82749637 | CASR | c.2963G>A (p.Ser988Asn) c.3224G>A (p.Ser1075Asn) c.3194G>A (p.Ser1065Asn) c.2711G>A (p.Ser904Asn) c.2606G>A (p.Ser869Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.122285148G>C | CA354161755 | CASR | c.2963G>C (p.Ser988Thr) c.3224G>C (p.Ser1075Thr) c.3194G>C (p.Ser1065Thr) c.2711G>C (p.Ser904Thr) c.2606G>C (p.Ser869Thr) | |
3 | g.122285148G= | CA1397873306 | CASR | c.2963G= (p.Ser988=) c.3224G= (p.Ser1075=) c.3194G= (p.Ser1065=) c.2711G= (p.Ser904=) c.2606G= (p.Ser869=) | |
3 | g.122285148G>T | CA354161754 | CASR | c.2963G>T (p.Ser988Ile) c.3224G>T (p.Ser1075Ile) c.3194G>T (p.Ser1065Ile) c.2711G>T (p.Ser904Ile) c.2606G>T (p.Ser869Ile) | |
3 | g.122285149T>A | CA354161756 | CASR | c.2964T>A (p.Ser988Arg) c.3225T>A (p.Ser1075Arg) c.3195T>A (p.Ser1065Arg) c.2712T>A (p.Ser904Arg) c.2607T>A (p.Ser869Arg) | |
3 | g.122285149T>C | CA435425669 | CASR | c.2964T>C (p.Ser988=) c.3225T>C (p.Ser1075=) c.3195T>C (p.Ser1065=) c.2712T>C (p.Ser904=) c.2607T>C (p.Ser869=) | gnomAD v4 |
3 | g.122285149T>G | CA354161757 | CASR | c.2964T>G (p.Ser988Arg) c.3225T>G (p.Ser1075Arg) c.3195T>G (p.Ser1065Arg) c.2712T>G (p.Ser904Arg) c.2607T>G (p.Ser869Arg) |