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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| 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.122285160G>A | CA354161779 | CASR | c.2975G>A (p.Ser992Asn) c.3236G>A (p.Ser1079Asn) c.3206G>A (p.Ser1069Asn) c.2723G>A (p.Ser908Asn) c.2618G>A (p.Ser873Asn) | ClinVar COSMIC |
| 3 | g.122285160G>C | CA354161780 | CASR | c.2975G>C (p.Ser992Thr) c.3236G>C (p.Ser1079Thr) c.3206G>C (p.Ser1069Thr) c.2723G>C (p.Ser908Thr) c.2618G>C (p.Ser873Thr) | |
| 3 | g.122285160G>T | CA354161778 | CASR | c.2975G>T (p.Ser992Ile) c.3236G>T (p.Ser1079Ile) c.3206G>T (p.Ser1069Ile) c.2723G>T (p.Ser908Ile) c.2618G>T (p.Ser873Ile) | |
| 3 | g.122285161del | CA2573136470 | CASR | c.2976del (p.Ser992ArgfsTer7) c.3237del (p.Ser1079ArgfsTer7) c.3207del (p.Ser1069ArgfsTer7) c.2724del (p.Ser908ArgfsTer7) c.2619del (p.Ser873ArgfsTer7) | ClinVar dbSNP |
| 3 | g.122285161C>A | CA354161781 | CASR | c.2976C>A (p.Ser992Arg) c.3237C>A (p.Ser1079Arg) c.3207C>A (p.Ser1069Arg) c.2724C>A (p.Ser908Arg) c.2619C>A (p.Ser873Arg) | |
| 3 | g.122285161C>G | CA354161782 | CASR | c.2976C>G (p.Ser992Arg) c.3237C>G (p.Ser1079Arg) c.3207C>G (p.Ser1069Arg) c.2724C>G (p.Ser908Arg) c.2619C>G (p.Ser873Arg) | |
| 3 | g.122285161C>T | CA435425681 | CASR | c.2976C>T (p.Ser992=) c.3237C>T (p.Ser1079=) c.3207C>T (p.Ser1069=) c.2724C>T (p.Ser908=) c.2619C>T (p.Ser873=) | ClinVar |
| 3 | g.122285162A= | CA1397873316 | CASR | c.2977A= (p.Thr993=) c.3238A= (p.Thr1080=) c.3208A= (p.Thr1070=) c.2725A= (p.Thr909=) c.2620A= (p.Thr874=) | |
| 3 | g.122285162A>C | CA354161783 | CASR | c.2977A>C (p.Thr993Pro) c.3238A>C (p.Thr1080Pro) c.3208A>C (p.Thr1070Pro) c.2725A>C (p.Thr909Pro) c.2620A>C (p.Thr874Pro) | |
| 3 | g.122285162A>G | CA354161784 | CASR | c.2977A>G (p.Thr993Ala) c.3238A>G (p.Thr1080Ala) c.3208A>G (p.Thr1070Ala) c.2725A>G (p.Thr909Ala) c.2620A>G (p.Thr874Ala) | gnomAD v4 |
| 3 | g.122285162A>T | CA82749645 | CASR | c.2977A>T (p.Thr993Ser) c.3238A>T (p.Thr1080Ser) c.3208A>T (p.Thr1070Ser) c.2725A>T (p.Thr909Ser) c.2620A>T (p.Thr874Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122285163C>A | CA354161787 | CASR | c.2978C>A (p.Thr993Asn) c.3239C>A (p.Thr1080Asn) c.3209C>A (p.Thr1070Asn) c.2726C>A (p.Thr909Asn) c.2621C>A (p.Thr874Asn) | |
| 3 | g.122285163C>G | CA354161785 | CASR | c.2978C>G (p.Thr993Ser) c.3239C>G (p.Thr1080Ser) c.3209C>G (p.Thr1070Ser) c.2726C>G (p.Thr909Ser) c.2621C>G (p.Thr874Ser) | |
| 3 | g.122285163C>T | CA354161786 | CASR | c.2978C>T (p.Thr993Ile) c.3239C>T (p.Thr1080Ile) c.3209C>T (p.Thr1070Ile) c.2726C>T (p.Thr909Ile) c.2621C>T (p.Thr874Ile) | |
| 3 | g.122285164T>A | CA435425685 | CASR | c.2979T>A (p.Thr993=) c.3240T>A (p.Thr1080=) c.3210T>A (p.Thr1070=) c.2727T>A (p.Thr909=) c.2622T>A (p.Thr874=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285164T>C | CA435425686 | CASR | c.2979T>C (p.Thr993=) c.3240T>C (p.Thr1080=) c.3210T>C (p.Thr1070=) c.2727T>C (p.Thr909=) c.2622T>C (p.Thr874=) | |
| 3 | g.122285164T>G | CA435425687 | CASR | c.2979T>G (p.Thr993=) c.3240T>G (p.Thr1080=) c.3210T>G (p.Thr1070=) c.2727T>G (p.Thr909=) c.2622T>G (p.Thr874=) | |
| 3 | g.122285164T= | CA1397873318 | CASR | c.2979T= (p.Thr993=) c.3240T= (p.Thr1080=) c.3210T= (p.Thr1070=) c.2727T= (p.Thr909=) c.2622T= (p.Thr874=) | |
| 3 | g.122285165G>A | CA354161788 | CASR | c.2980G>A (p.Val994Ile) c.3241G>A (p.Val1081Ile) c.3211G>A (p.Val1071Ile) c.2728G>A (p.Val910Ile) c.2623G>A (p.Val875Ile) | ClinVar dbSNP |
| 3 | g.122285165G>C | CA354161789 | CASR | c.2980G>C (p.Val994Leu) c.3241G>C (p.Val1081Leu) c.3211G>C (p.Val1071Leu) c.2728G>C (p.Val910Leu) c.2623G>C (p.Val875Leu) | |
| 3 | g.122285165G= | CA1397873320 | CASR | c.2980G= (p.Val994=) c.3241G= (p.Val1081=) c.3211G= (p.Val1071=) c.2728G= (p.Val910=) c.2623G= (p.Val875=) | |
| 3 | g.122285165G>T | CA354161790 | CASR | c.2980G>T (p.Val994Phe) c.3241G>T (p.Val1081Phe) c.3211G>T (p.Val1071Phe) c.2728G>T (p.Val910Phe) c.2623G>T (p.Val875Phe) | |
| 3 | g.122285166T>A | CA354161791 | CASR | c.2981T>A (p.Val994Asp) c.3242T>A (p.Val1081Asp) c.3212T>A (p.Val1071Asp) c.2729T>A (p.Val910Asp) c.2624T>A (p.Val875Asp) | COSMIC |
| 3 | g.122285166T>C | CA354161792 | CASR | c.2981T>C (p.Val994Ala) c.3242T>C (p.Val1081Ala) c.3212T>C (p.Val1071Ala) c.2729T>C (p.Val910Ala) c.2624T>C (p.Val875Ala) | |
| 3 | g.122285166T>G | CA354161793 | CASR | c.2981T>G (p.Val994Gly) c.3242T>G (p.Val1081Gly) c.3212T>G (p.Val1071Gly) c.2729T>G (p.Val910Gly) c.2624T>G (p.Val875Gly) | |
| 3 | g.122285167T>A | CA435425691 | CASR | c.2982T>A (p.Val994=) c.3243T>A (p.Val1081=) c.3213T>A (p.Val1071=) c.2730T>A (p.Val910=) c.2625T>A (p.Val875=) | |
| 3 | g.122285167T>C | CA435425689 | CASR | c.2982T>C (p.Val994=) c.3243T>C (p.Val1081=) c.3213T>C (p.Val1071=) c.2730T>C (p.Val910=) c.2625T>C (p.Val875=) | |
| 3 | g.122285167T>G | CA435425690 | CASR | c.2982T>G (p.Val994=) c.3243T>G (p.Val1081=) c.3213T>G (p.Val1071=) c.2730T>G (p.Val910=) c.2625T>G (p.Val875=) | |
| 3 | g.122285168A>C | CA354161795 | CASR | c.2983A>C (p.Thr995Pro) c.3244A>C (p.Thr1082Pro) c.3214A>C (p.Thr1072Pro) c.2731A>C (p.Thr911Pro) c.2626A>C (p.Thr876Pro) | |
| 3 | g.122285168A>G | CA354161796 | CASR | c.2983A>G (p.Thr995Ala) c.3244A>G (p.Thr1082Ala) c.3214A>G (p.Thr1072Ala) c.2731A>G (p.Thr911Ala) c.2626A>G (p.Thr876Ala) | |
| 3 | g.122285168A>T | CA354161794 | CASR | c.2983A>T (p.Thr995Ser) c.3244A>T (p.Thr1082Ser) c.3214A>T (p.Thr1072Ser) c.2731A>T (p.Thr911Ser) c.2626A>T (p.Thr876Ser) | |
| 3 | g.122285169C>A | CA354161799 | CASR | c.2984C>A (p.Thr995Lys) c.3245C>A (p.Thr1082Lys) c.3215C>A (p.Thr1072Lys) c.2732C>A (p.Thr911Lys) c.2627C>A (p.Thr876Lys) | |
| 3 | g.122285169C>G | CA354161797 | CASR | c.2984C>G (p.Thr995Arg) c.3245C>G (p.Thr1082Arg) c.3215C>G (p.Thr1072Arg) c.2732C>G (p.Thr911Arg) c.2627C>G (p.Thr876Arg) | |
| 3 | g.122285169C>T | CA354161798 | CASR | c.2984C>T (p.Thr995Ile) c.3245C>T (p.Thr1082Ile) c.3215C>T (p.Thr1072Ile) c.2732C>T (p.Thr911Ile) c.2627C>T (p.Thr876Ile) | ClinVar dbSNP |
| 3 | g.122285170A= | CA1397873322 | CASR | c.2985A= (p.Thr995=) c.3246A= (p.Thr1082=) c.3216A= (p.Thr1072=) c.2733A= (p.Thr911=) c.2628A= (p.Thr876=) | |
| 3 | g.122285170A>C | CA435425693 | CASR | c.2985A>C (p.Thr995=) c.3246A>C (p.Thr1082=) c.3216A>C (p.Thr1072=) c.2733A>C (p.Thr911=) c.2628A>C (p.Thr876=) | ClinVar dbSNP |
| 3 | g.122285170A>G | CA435425694 | CASR | c.2985A>G (p.Thr995=) c.3246A>G (p.Thr1082=) c.3216A>G (p.Thr1072=) c.2733A>G (p.Thr911=) c.2628A>G (p.Thr876=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122285170A>T | CA435425695 | CASR | c.2985A>T (p.Thr995=) c.3246A>T (p.Thr1082=) c.3216A>T (p.Thr1072=) c.2733A>T (p.Thr911=) c.2628A>T (p.Thr876=) | |
| 3 | g.122285171G>A | CA354161800 | CASR | c.2986G>A (p.Glu996Lys) c.3247G>A (p.Glu1083Lys) c.3217G>A (p.Glu1073Lys) c.2734G>A (p.Glu912Lys) c.2629G>A (p.Glu877Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285171G>C | CA354161801 | CASR | c.2986G>C (p.Glu996Gln) c.3247G>C (p.Glu1083Gln) c.3217G>C (p.Glu1073Gln) c.2734G>C (p.Glu912Gln) c.2629G>C (p.Glu877Gln) | |
| 3 | g.122285171G= | CA1397873324 | CASR | c.2986G= (p.Glu996=) c.3247G= (p.Glu1083=) c.3217G= (p.Glu1073=) c.2734G= (p.Glu912=) c.2629G= (p.Glu877=) | |
| 3 | g.122285171G>T | CA354161802 | CASR | c.2986G>T (p.Glu996Ter) c.3247G>T (p.Glu1083Ter) c.3217G>T (p.Glu1073Ter) c.2734G>T (p.Glu912Ter) c.2629G>T (p.Glu877Ter) | |
| 3 | g.122285171_122285172delinsGA | CA1397873325 | CASR | c.2986_2987delinsGA (p.Glu996=) c.3247_3248delinsGA (p.Glu1083=) c.3217_3218delinsGA (p.Glu1073=) c.2734_2735delinsGA (p.Glu912=) c.2629_2630delinsGA (p.Glu877=) | |
| 3 | g.122285172A>C | CA354161803 | CASR | c.2987A>C (p.Glu996Ala) c.3248A>C (p.Glu1083Ala) c.3218A>C (p.Glu1073Ala) c.2735A>C (p.Glu912Ala) c.2630A>C (p.Glu877Ala) | |
| 3 | g.122285172A>G | CA354161804 | CASR | c.2987A>G (p.Glu996Gly) c.3248A>G (p.Glu1083Gly) c.3218A>G (p.Glu1073Gly) c.2735A>G (p.Glu912Gly) c.2630A>G (p.Glu877Gly) | |
| 3 | g.122285172A>T | CA354161805 | CASR | c.2987A>T (p.Glu996Val) c.3248A>T (p.Glu1083Val) c.3218A>T (p.Glu1073Val) c.2735A>T (p.Glu912Val) c.2630A>T (p.Glu877Val) | |
| 3 | g.122285175del | CA1052945337 | CASR | c.2990del (p.Asn997ThrfsTer2) c.3251del (p.Asn1084ThrfsTer2) c.3221del (p.Asn1074ThrfsTer2) c.2738del (p.Asn913ThrfsTer2) c.2633del (p.Asn878ThrfsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122285173A>C | CA354161806 | CASR | c.2988A>C (p.Glu996Asp) c.3249A>C (p.Glu1083Asp) c.3219A>C (p.Glu1073Asp) c.2736A>C (p.Glu912Asp) c.2631A>C (p.Glu877Asp) | |
| 3 | g.122285173A>G | CA435425697 | CASR | c.2988A>G (p.Glu996=) c.3249A>G (p.Glu1083=) c.3219A>G (p.Glu1073=) c.2736A>G (p.Glu912=) c.2631A>G (p.Glu877=) | |
| 3 | g.122285173A>T | CA354161807 | CASR | c.2988A>T (p.Glu996Asp) c.3249A>T (p.Glu1083Asp) c.3219A>T (p.Glu1073Asp) c.2736A>T (p.Glu912Asp) c.2631A>T (p.Glu877Asp) | |
| 3 | g.122285174A= | CA1397873328 | CASR | c.2989A= (p.Asn997=) c.3250A= (p.Asn1084=) c.3220A= (p.Asn1074=) c.2737A= (p.Asn913=) c.2632A= (p.Asn878=) | |
| 3 | g.122285174A>C | CA354161808 | CASR | c.2989A>C (p.Asn997His) c.3250A>C (p.Asn1084His) c.3220A>C (p.Asn1074His) c.2737A>C (p.Asn913His) c.2632A>C (p.Asn878His) | |
| 3 | g.122285174A>G | CA2569947 | CASR | c.2989A>G (p.Asn997Asp) c.3250A>G (p.Asn1084Asp) c.3220A>G (p.Asn1074Asp) c.2737A>G (p.Asn913Asp) c.2632A>G (p.Asn878Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285174A>T | CA354161809 | CASR | c.2989A>T (p.Asn997Tyr) c.3250A>T (p.Asn1084Tyr) c.3220A>T (p.Asn1074Tyr) c.2737A>T (p.Asn913Tyr) c.2632A>T (p.Asn878Tyr) | |
| 3 | g.122285175A>C | CA354161812 | CASR | c.2990A>C (p.Asn997Thr) c.3251A>C (p.Asn1084Thr) c.3221A>C (p.Asn1074Thr) c.2738A>C (p.Asn913Thr) c.2633A>C (p.Asn878Thr) | |
| 3 | g.122285175A>G | CA354161811 | CASR | c.2990A>G (p.Asn997Ser) c.3251A>G (p.Asn1084Ser) c.3221A>G (p.Asn1074Ser) c.2738A>G (p.Asn913Ser) c.2633A>G (p.Asn878Ser) | |
| 3 | g.122285175A>T | CA354161810 | CASR | c.2990A>T (p.Asn997Ile) c.3251A>T (p.Asn1084Ile) c.3221A>T (p.Asn1074Ile) c.2738A>T (p.Asn913Ile) c.2633A>T (p.Asn878Ile) | |
| 3 | g.122285176C>A | CA354161813 | CASR | c.2991C>A (p.Asn997Lys) c.3252C>A (p.Asn1084Lys) c.3222C>A (p.Asn1074Lys) c.2739C>A (p.Asn913Lys) c.2634C>A (p.Asn878Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285176C= | CA1397873330 | CASR | c.2991C= (p.Asn997=) c.3252C= (p.Asn1084=) c.3222C= (p.Asn1074=) c.2739C= (p.Asn913=) c.2634C= (p.Asn878=) | |
| 3 | g.122285176C>G | CA354161814 | CASR | c.2991C>G (p.Asn997Lys) c.3252C>G (p.Asn1084Lys) c.3222C>G (p.Asn1074Lys) c.2739C>G (p.Asn913Lys) c.2634C>G (p.Asn878Lys) | |
| 3 | g.122285176C>T | CA435425702 | CASR | c.2991C>T (p.Asn997=) c.3252C>T (p.Asn1084=) c.3222C>T (p.Asn1074=) c.2739C>T (p.Asn913=) c.2634C>T (p.Asn878=) | ClinVar COSMIC |
| 3 | g.122285177G>A | CA354161815 | CASR | c.2992G>A (p.Val998Ile) c.3253G>A (p.Val1085Ile) c.3223G>A (p.Val1075Ile) c.2740G>A (p.Val914Ile) c.2635G>A (p.Val879Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122285177G>C | CA2569948 | CASR | c.2992G>C (p.Val998Leu) c.3253G>C (p.Val1085Leu) c.3223G>C (p.Val1075Leu) c.2740G>C (p.Val914Leu) c.2635G>C (p.Val879Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122285177G= | CA1397873334 | CASR | c.2992G= (p.Val998=) c.3253G= (p.Val1085=) c.3223G= (p.Val1075=) c.2740G= (p.Val914=) c.2635G= (p.Val879=) | |
| 3 | g.122285177G>T | CA354161816 | CASR | c.2992G>T (p.Val998Leu) c.3253G>T (p.Val1085Leu) c.3223G>T (p.Val1075Leu) c.2740G>T (p.Val914Leu) c.2635G>T (p.Val879Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285178T>A | CA354161817 | CASR | c.2993T>A (p.Val998Glu) c.3254T>A (p.Val1085Glu) c.3224T>A (p.Val1075Glu) c.2741T>A (p.Val914Glu) c.2636T>A (p.Val879Glu) | |
| 3 | g.122285178T>C | CA354161818 | CASR | c.2993T>C (p.Val998Ala) c.3254T>C (p.Val1085Ala) c.3224T>C (p.Val1075Ala) c.2741T>C (p.Val914Ala) c.2636T>C (p.Val879Ala) | ClinVar dbSNP |
| 3 | g.122285178T>G | CA354161819 | CASR | c.2993T>G (p.Val998Gly) c.3254T>G (p.Val1085Gly) c.3224T>G (p.Val1075Gly) c.2741T>G (p.Val914Gly) c.2636T>G (p.Val879Gly) | |
| 3 | g.122285179A>C | CA435425704 | CASR | c.2994A>C (p.Val998=) c.3255A>C (p.Val1085=) c.3225A>C (p.Val1075=) c.2742A>C (p.Val914=) c.2637A>C (p.Val879=) | |
| 3 | g.122285179A>G | CA435425705 | CASR | c.2994A>G (p.Val998=) c.3255A>G (p.Val1085=) c.3225A>G (p.Val1075=) c.2742A>G (p.Val914=) c.2637A>G (p.Val879=) | gnomAD v4 |
| 3 | g.122285179A>T | CA435425706 | CASR | c.2994A>T (p.Val998=) c.3255A>T (p.Val1085=) c.3225A>T (p.Val1075=) c.2742A>T (p.Val914=) c.2637A>T (p.Val879=) | |
| 3 | g.122285180del | CA2603853880 | CASR | c.2995del (p.Val999Ter) c.3256del (p.Val1086Ter) c.3226del (p.Val1076Ter) c.2743del (p.Val915Ter) c.2638del (p.Val880Ter) | gnomAD v3 gnomAD v4 |
| 3 | g.122285180G>A | CA354161820 | CASR | c.2995G>A (p.Val999Met) c.3256G>A (p.Val1086Met) c.3226G>A (p.Val1076Met) c.2743G>A (p.Val915Met) c.2638G>A (p.Val880Met) | |
| 3 | g.122285180G>C | CA354161821 | CASR | c.2995G>C (p.Val999Leu) c.3256G>C (p.Val1086Leu) c.3226G>C (p.Val1076Leu) c.2743G>C (p.Val915Leu) c.2638G>C (p.Val880Leu) | |
| 3 | g.122285180G>T | CA354161822 | CASR | c.2995G>T (p.Val999Leu) c.3256G>T (p.Val1086Leu) c.3226G>T (p.Val1076Leu) c.2743G>T (p.Val915Leu) c.2638G>T (p.Val880Leu) | dbSNP |
| 3 | g.122285181T>A | CA354161823 | CASR | c.2996T>A (p.Val999Glu) c.3257T>A (p.Val1086Glu) c.3227T>A (p.Val1076Glu) c.2744T>A (p.Val915Glu) c.2639T>A (p.Val880Glu) | |
| 3 | g.122285181T>C | CA354161824 | CASR | c.2996T>C (p.Val999Ala) c.3257T>C (p.Val1086Ala) c.3227T>C (p.Val1076Ala) c.2744T>C (p.Val915Ala) c.2639T>C (p.Val880Ala) | |
| 3 | g.122285181T>G | CA354161825 | CASR | c.2996T>G (p.Val999Gly) c.3257T>G (p.Val1086Gly) c.3227T>G (p.Val1076Gly) c.2744T>G (p.Val915Gly) c.2639T>G (p.Val880Gly) | |
| 3 | g.122285182G>A | CA435425709 | CASR | c.2997G>A (p.Val999=) c.3258G>A (p.Val1086=) c.3228G>A (p.Val1076=) c.2745G>A (p.Val915=) c.2640G>A (p.Val880=) | COSMIC |
| 3 | g.122285182G>C | CA435425710 | CASR | c.2997G>C (p.Val999=) c.3258G>C (p.Val1086=) c.3228G>C (p.Val1076=) c.2745G>C (p.Val915=) c.2640G>C (p.Val880=) | |
| 3 | g.122285182G>T | CA435425708 | CASR | c.2997G>T (p.Val999=) c.3258G>T (p.Val1086=) c.3228G>T (p.Val1076=) c.2745G>T (p.Val915=) c.2640G>T (p.Val880=) | |
| 3 | g.122285183A>C | CA354161827 | CASR | c.2998A>C (p.Asn1000His) c.3259A>C (p.Asn1087His) c.3229A>C (p.Asn1077His) c.2746A>C (p.Asn916His) c.2641A>C (p.Asn881His) | |
| 3 | g.122285183A>G | CA354161828 | CASR | c.2998A>G (p.Asn1000Asp) c.3259A>G (p.Asn1087Asp) c.3229A>G (p.Asn1077Asp) c.2746A>G (p.Asn916Asp) c.2641A>G (p.Asn881Asp) | COSMIC |
| 3 | g.122285183A>T | CA354161826 | CASR | c.2998A>T (p.Asn1000Tyr) c.3259A>T (p.Asn1087Tyr) c.3229A>T (p.Asn1077Tyr) c.2746A>T (p.Asn916Tyr) c.2641A>T (p.Asn881Tyr) | |
| 3 | g.122285184A>C | CA354161829 | CASR | c.2999A>C (p.Asn1000Thr) c.3260A>C (p.Asn1087Thr) c.3230A>C (p.Asn1077Thr) c.2747A>C (p.Asn916Thr) c.2642A>C (p.Asn881Thr) | |
| 3 | g.122285184A>G | CA354161830 | CASR | c.2999A>G (p.Asn1000Ser) c.3260A>G (p.Asn1087Ser) c.3230A>G (p.Asn1077Ser) c.2747A>G (p.Asn916Ser) c.2642A>G (p.Asn881Ser) | |
| 3 | g.122285184A>T | CA354161831 | CASR | c.2999A>T (p.Asn1000Ile) c.3260A>T (p.Asn1087Ile) c.3230A>T (p.Asn1077Ile) c.2747A>T (p.Asn916Ile) c.2642A>T (p.Asn881Ile) | |
| 3 | g.122285185T>A | CA354161832 | CASR | c.3000T>A (p.Asn1000Lys) c.3261T>A (p.Asn1087Lys) c.3231T>A (p.Asn1077Lys) c.2748T>A (p.Asn916Lys) c.2643T>A (p.Asn881Lys) | |
| 3 | g.122285185T>C | CA435425712 | CASR | c.3000T>C (p.Asn1000=) c.3261T>C (p.Asn1087=) c.3231T>C (p.Asn1077=) c.2748T>C (p.Asn916=) c.2643T>C (p.Asn881=) | |
| 3 | g.122285185T>G | CA354161833 | CASR | c.3000T>G (p.Asn1000Lys) c.3261T>G (p.Asn1087Lys) c.3231T>G (p.Asn1077Lys) c.2748T>G (p.Asn916Lys) c.2643T>G (p.Asn881Lys) | |
| 3 | g.122285186T>A | CA354161834 | CASR | c.3001T>A (p.Ser1001Thr) c.3262T>A (p.Ser1088Thr) c.3232T>A (p.Ser1078Thr) c.2749T>A (p.Ser917Thr) c.2644T>A (p.Ser882Thr) | |
| 3 | g.122285186T>C | CA354161835 | CASR | c.3001T>C (p.Ser1001Pro) c.3262T>C (p.Ser1088Pro) c.3232T>C (p.Ser1078Pro) c.2749T>C (p.Ser917Pro) c.2644T>C (p.Ser882Pro) | |
| 3 | g.122285186T>G | CA354161836 | CASR | c.3001T>G (p.Ser1001Ala) c.3262T>G (p.Ser1088Ala) c.3232T>G (p.Ser1078Ala) c.2749T>G (p.Ser917Ala) c.2644T>G (p.Ser882Ala) | |
| 3 | g.122285187C>A | CA354161837 | CASR | c.3002C>A (p.Ser1001Ter) c.3263C>A (p.Ser1088Ter) c.3233C>A (p.Ser1078Ter) c.2750C>A (p.Ser917Ter) c.2645C>A (p.Ser882Ter) | |
| 3 | g.122285187C>G | CA354161838 | CASR | c.3002C>G (p.Ser1001Ter) c.3263C>G (p.Ser1088Ter) c.3233C>G (p.Ser1078Ter) c.2750C>G (p.Ser917Ter) c.2645C>G (p.Ser882Ter) | |
| 3 | g.122285187C>T | CA354161839 | CASR | c.3002C>T (p.Ser1001Leu) c.3263C>T (p.Ser1088Leu) c.3233C>T (p.Ser1078Leu) c.2750C>T (p.Ser917Leu) c.2645C>T (p.Ser882Leu) | |
| 3 | g.122285188A= | CA1397873336 | CASR | c.3003A= (p.Ser1001=) c.3264A= (p.Ser1088=) c.3234A= (p.Ser1078=) c.2751A= (p.Ser917=) c.2646A= (p.Ser882=) | |
| 3 | g.122285188A>C | CA435425790 | CASR | c.3003A>C (p.Ser1001=) c.3264A>C (p.Ser1088=) c.3234A>C (p.Ser1078=) c.2751A>C (p.Ser917=) c.2646A>C (p.Ser882=) | |
| 3 | g.122285188A>G | CA2569949 | CASR | c.3003A>G (p.Ser1001=) c.3264A>G (p.Ser1088=) c.3234A>G (p.Ser1078=) c.2751A>G (p.Ser917=) c.2646A>G (p.Ser882=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285188A>T | CA2569950 | CASR | c.3003A>T (p.Ser1001=) c.3264A>T (p.Ser1088=) c.3234A>T (p.Ser1078=) c.2751A>T (p.Ser917=) c.2646A>T (p.Ser882=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285189T>A | CA354161842 | CASR | c.3004T>A (p.Ter1002Lys) c.3265T>A (p.Ter1089Lys) c.3235T>A (p.Ter1079Lys) c.2752T>A (p.Ter918Lys) c.2647T>A (p.Ter883Lys) | |
| 3 | g.122285189T>C | CA354161840 | CASR | c.3004T>C (p.Ter1002Gln) c.3265T>C (p.Ter1089Gln) c.3235T>C (p.Ter1079Gln) c.2752T>C (p.Ter918Gln) c.2647T>C (p.Ter883Gln) | gnomAD v4 |
| 3 | g.122285189T>G | CA354161841 | CASR | c.3004T>G (p.Ter1002Glu) c.3265T>G (p.Ter1089Glu) c.3235T>G (p.Ter1079Glu) c.2752T>G (p.Ter918Glu) c.2647T>G (p.Ter883Glu) | |
| 3 | g.122285190A= | CA1397873339 | CASR | c.3005A= (p.Ter1002=) c.3266A= (p.Ter1089=) c.3236A= (p.Ter1079=) c.2753A= (p.Ter918=) c.2648A= (p.Ter883=) | |
| 3 | g.122285190A>C | CA354161843 | CASR | c.3005A>C (p.Ter1002Ser) c.3266A>C (p.Ter1089Ser) c.3236A>C (p.Ter1079Ser) c.2753A>C (p.Ter918Ser) c.2648A>C (p.Ter883Ser) | |
| 3 | g.122285190A>G | CA16611139 | CASR | c.3005A>G (p.Ter1002=) c.3266A>G (p.Ter1089=) c.3236A>G (p.Ter1079=) c.2753A>G (p.Ter918=) c.2648A>G (p.Ter883=) | ClinVar dbSNP |
| 3 | g.122285190A>T | CA354161844 | CASR | c.3005A>T (p.Ter1002Leu) c.3266A>T (p.Ter1089Leu) c.3236A>T (p.Ter1079Leu) c.2753A>T (p.Ter918Leu) c.2648A>T (p.Ter883Leu) | |
| 3 | g.122285191A>C | CA354161845 | CASR | c.3006A>C (p.Ter1002Tyr) c.3267A>C (p.Ter1089Tyr) c.3237A>C (p.Ter1079Tyr) c.2754A>C (p.Ter918Tyr) c.2649A>C (p.Ter883Tyr) | |
| 3 | g.122285191A>G | CA435425792 | CASR | c.3006A>G (p.Ter1002=) c.3267A>G (p.Ter1089=) c.3237A>G (p.Ter1079=) c.2754A>G (p.Ter918=) c.2649A>G (p.Ter883=) | |
| 3 | g.122285191A>T | CA354161846 | CASR | c.3006A>T (p.Ter1002Tyr) c.3267A>T (p.Ter1089Tyr) c.3237A>T (p.Ter1079Tyr) c.2754A>T (p.Ter918Tyr) c.2649A>T (p.Ter883Tyr) | |
| 3 | g.122285193A>G | CA2667224942 | CASR | c.*2A>G (n.*2A>G) | gnomAD v4 |
| 3 | g.122285195G>A | CA545962769 | CASR | c.*4G>A (n.*4G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285195G= | CA1397873341 | CASR | c.*4G= (n.*4G=) | |
| 3 | g.122285197A= | CA1397873343 | CASR | c.*6A= (n.*6A=) | |
| 3 | g.122285197A>C | CA1397873344 | CASR | c.*6A>C (n.*6A>C) | dbSNP |
| 3 | g.122285197_122285200delinsAAGG | CA1397873342 | CASR | c.*6_*9delinsAAGG (n.*6_*9delinsAAGG) | |
| 3 | g.122285198A= | CA1397873345 | CASR | c.*7A= (n.*7A=) | |
| 3 | g.122285198A>C | CA2569952 | CASR | c.*7A>C (n.*7A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122285198A>T | CA2667224943 | CASR | c.*7A>T (n.*7A>T) | gnomAD v4 |
| 3 | g.122285200_122285202del | CA2569951 | CASR | c.*9_*11del (n.*9_*11del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285200G>C | CA2569953 | CASR | c.*9G>C (n.*9G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285200G= | CA1397873347 | CASR | c.*9G= (n.*9G=) | |
| 3 | g.122285200G>T | CA82749681 | CASR | c.*9G>T (n.*9G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285201A= | CA1397873349 | CASR | c.*10A= (n.*10A=) | |
| 3 | g.122285201A>C | CA82749687 | CASR | c.*10A>C (n.*10A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285202G>A | CA545962770 | CASR | c.*11G>A (n.*11G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285202G= | CA1397873350 | CASR | c.*11G= (n.*11G=) | |
| 3 | g.122285205G>A | CA1052938200 | CASR | c.*14G>A (n.*14G>A) | gnomAD v3 gnomAD v4 |
| 3 | g.122285205G>C | CA2667224944 | CASR | c.*14G>C (n.*14G>C) | gnomAD v4 |
| 3 | g.122285206A= | CA1397873352 | CASR | c.*15A= (n.*15A=) | |
| 3 | g.122285206A>G | CA545962771 | CASR | c.*15A>G (n.*15A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285206A>T | CA2667224945 | CASR | c.*15A>T (n.*15A>T) | gnomAD v4 |
| 3 | g.122285208T>C | CA82749690 | CASR | c.*17T>C (n.*17T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122285208T>G | CA1397873353 | CASR | c.*17T>G (n.*17T>G) | dbSNP |
| 3 | g.122285208T= | CA1397873354 | CASR | c.*17T= (n.*17T=) | |
| 3 | g.122285210G>A | CA2569954 | CASR | c.*19G>A (n.*19G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285210G>C | CA2667224946 | CASR | c.*19G>C (n.*19G>C) | gnomAD v4 |
| 3 | g.122285210G= | CA1397873355 | CASR | c.*19G= (n.*19G=) | |
| 3 | g.122285211G>A | CA2569955 | CASR | c.*20G>A (n.*20G>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.122285211G>C | CA1397873358 | CASR | c.*20G>C (n.*20G>C) | dbSNP |
| 3 | g.122285211G= | CA1397873357 | CASR | c.*20G= (n.*20G=) | |
| 3 | g.122285212C>A | CA2667224947 | CASR | c.*21C>A (n.*21C>A) | gnomAD v4 |
| 3 | g.122285214A= | CA1397873359 | CASR | c.*23A= (n.*23A=) | |
| 3 | g.122285214A>G | CA898113450 | CASR | c.*23A>G (n.*23A>G) | dbSNP |
| 3 | g.122285215G>T | CA2667224948 | CASR | c.*24G>T (n.*24G>T) | gnomAD v4 |
| 3 | g.122285216G>A | CA2667224950 | CASR | c.*25G>A (n.*25G>A) | gnomAD v4 |
| 3 | g.122285216G>T | CA2667224949 | CASR | c.*25G>T (n.*25G>T) | gnomAD v4 |
| 3 | g.122285218A>G | CA2667224951 | CASR | c.*27A>G (n.*27A>G) | gnomAD v4 |
| 3 | g.122285219G>C | CA2569956 | CASR | c.*28G>C (n.*28G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285219G= | CA1397873361 | CASR | c.*28G= (n.*28G=) | |
| 3 | g.122285219G>T | CA2667224952 | CASR | c.*28G>T (n.*28G>T) | gnomAD v4 |
| 3 | g.122285222T>C | CA2667224953 | CASR | c.*31T>C (n.*31T>C) | gnomAD v4 |
| 3 | g.122285223G>A | CA2667224954 | CASR | c.*32G>A (n.*32G>A) | gnomAD v4 |
| 3 | g.122285223G= | CA1397873362 | CASR | c.*32G= (n.*32G=) | |
| 3 | g.122285223G>T | CA2569957 | CASR | c.*32G>T (n.*32G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285224C>A | CA2577870121 | CASR | c.*33C>A (n.*33C>A) | gnomAD v4 |
| 3 | g.122285229_122285230del | CA2577870122 | CASR | c.*38_*39del (n.*38_*39del) | ClinVar |
| 3 | g.122285226G>T | CA2667224955 | CASR | c.*35G>T (n.*35G>T) | gnomAD v4 |
| 3 | g.122285228G>T | CA2667224956 | CASR | c.*37G>T (n.*37G>T) | gnomAD v4 |
| 3 | g.122285229A>G | CA2667224957 | CASR | c.*38A>G (n.*38A>G) | gnomAD v4 |
| 3 | g.122285230G>T | CA2667224958 | CASR | c.*39G>T (n.*39G>T) | gnomAD v4 |
| 3 | g.122285231G>A | CA2667224959 | CASR | c.*40G>A (n.*40G>A) | gnomAD v4 |
| 3 | g.122285231G>T | CA2667224960 | CASR | c.*40G>T (n.*40G>T) | gnomAD v4 |
| 3 | g.122285232T>A | CA1397873364 | CASR | c.*41T>A (n.*41T>A) | dbSNP |
| 3 | g.122285232T>G | CA1397873363 | CASR | c.*41T>G (n.*41T>G) | dbSNP |
| 3 | g.122285232T= | CA1397873365 | CASR | c.*41T= (n.*41T=) | |
| 3 | g.122285233T>G | CA2569958 | CASR | c.*42T>G (n.*42T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285233T= | CA1397873367 | CASR | c.*42T= (n.*42T=) | |
| 3 | g.122285235C>A | CA1052938209 | CASR | c.*44C>A (n.*44C>A) | gnomAD v3 gnomAD v4 |
| 3 | g.122285236T>C | CA82749733 | CASR | c.*45T>C (n.*45T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285236T= | CA1397873368 | CASR | c.*45T= (n.*45T=) | |
| 3 | g.122285239G>T | CA2667224961 | CASR | c.*48G>T (n.*48G>T) | gnomAD v4 |
| 3 | g.122285240G>T | CA2667224962 | CASR | c.*49G>T (n.*49G>T) | gnomAD v4 |
| 3 | g.122285241G>A | CA2569960 | CASR | c.*50G>A (n.*50G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122285241G>C | CA2569959 | CASR | c.*50G>C (n.*50G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285241G= | CA1397873370 | CASR | c.*50G= (n.*50G=) | |
| 3 | g.122285242T>C | CA2667224963 | CASR | c.*51T>C (n.*51T>C) | gnomAD v4 |
| 3 | g.122285243C>A | CA2667224964 | CASR | c.*52C>A (n.*52C>A) | gnomAD v4 |
| 3 | g.122285245del | CA2577870123 | CASR | c.*54del (n.*54del) | gnomAD v4 |
| 3 | g.122285244C>A | CA2667224965 | CASR | c.*53C>A (n.*53C>A) | gnomAD v4 |
| 3 | g.122285244C= | CA1397873371 | CASR | c.*53C= (n.*53C=) | |
| 3 | g.122285244C>T | CA1397873372 | CASR | c.*53C>T (n.*53C>T) | dbSNP |
| 3 | g.122285245C>A | CA2667224966 | CASR | c.*54C>A (n.*54C>A) | gnomAD v4 |
| 3 | g.122285246A>G | CA2667224967 | CASR | c.*55A>G (n.*55A>G) | gnomAD v4 |
| 3 | g.122285247G>A | CA545962772 | CASR | c.*56G>A (n.*56G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285247G= | CA1397873374 | CASR | c.*56G= (n.*56G=) | |
| 3 | g.122285247G>T | CA898113464 | CASR | c.*56G>T (n.*56G>T) | dbSNP gnomAD v4 |
| 3 | g.122285248G>A | CA82749743 | CASR | c.*57G>A (n.*57G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122285248G= | CA1397873375 | CASR | c.*57G= (n.*57G=) | |
| 3 | g.122285249G>A | CA898113471 | CASR | c.*58G>A (n.*58G>A) | dbSNP gnomAD v4 |
| 3 | g.122285249G>C | CA2667224968 | CASR | c.*58G>C (n.*58G>C) | gnomAD v4 |
| 3 | g.122285249G= | CA1397873376 | CASR | c.*58G= (n.*58G=) | |
| 3 | g.122285249G>T | CA2667224969 | CASR | c.*58G>T (n.*58G>T) | gnomAD v4 |
| 3 | g.122285251A= | CA1397873378 | CASR | c.*60A= (n.*60A=) | |
| 3 | g.122285251A>C | CA2581905906 | CASR | c.*60A>C (n.*60A>C) | dbSNP gnomAD v4 |
| 3 | g.122285251A>G | CA545962773 | CASR | c.*60A>G (n.*60A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285251A>T | CA10614609 | CASR | c.*60A>T (n.*60A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122285252G>T | CA2667224970 | CASR | c.*61G>T (n.*61G>T) | gnomAD v4 |
| 3 | g.122285253A= | CA1397873379 | CASR | c.*62A= (n.*62A=) | |
| 3 | g.122285253A>C | CA1397873380 | CASR | c.*62A>C (n.*62A>C) | dbSNP |
| 3 | g.122285253A>G | CA2667224971 | CASR | c.*62A>G (n.*62A>G) | gnomAD v4 |
| 3 | g.122285254G>A | CA2667224972 | CASR | c.*63G>A (n.*63G>A) | gnomAD v4 |
| 3 | g.122285255G>A | CA2577870124 | CASR | c.*64G>A (n.*64G>A) | gnomAD v4 |
| 3 | g.122285255G>T | CA2667224973 | CASR | c.*64G>T (n.*64G>T) | gnomAD v4 |
| 3 | g.122285257A>C | CA2667224974 | CASR | c.*66A>C (n.*66A>C) | gnomAD v4 |
| 3 | g.122285257A>G | CA2667224975 | CASR | c.*66A>G (n.*66A>G) | gnomAD v4 |
| 3 | g.122285259C>A | CA2577870125 | CASR | c.*68C>A (n.*68C>A) | gnomAD v4 |
| 3 | g.122285259C= | CA1397873381 | CASR | c.*68C= (n.*68C=) | |
| 3 | g.122285259C>T | CA648038329 | CASR | c.*68C>T (n.*68C>T) | dbSNP gnomAD v4 COSMIC |
| 3 | g.122285259_122285260insTGGG | CA2667224976 | CASR | c.*68_*69insTGGG (n.*68_*69insTGGG) | gnomAD v4 |
| 3 | g.122285260G>A | CA82749744 | CASR | c.*69G>A (n.*69G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122285260G= | CA1397873383 | CASR | c.*69G= (n.*69G=) | |
| 3 | g.122285260G>T | CA2667224977 | CASR | c.*69G>T (n.*69G>T) | gnomAD v4 |