| 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.122284899_122284973del | CA2667224801 | CASR | c.2714_2788del (p.Pro905_Thr929del) c.2975_3049del (p.Pro992_Thr1016del) c.2945_3019del (p.Pro982_Thr1006del) c.2462_2536del (p.Pro821_Thr845del) c.2357_2431del (p.Pro786_Thr810del) | gnomAD v4 |
| 3 | g.122284909_122284910delinsTT | CA2499216416 | CASR | c.2724_2725delinsTT (p.Ala909Ser) c.2985_2986delinsTT (p.Ala996Ser) c.2955_2956delinsTT (p.Ala986Ser) c.2472_2473delinsTT (p.Ala825Ser) c.2367_2368delinsTT (p.Ala790Ser) | ClinVar dbSNP |
| 3 | g.122284910G>A | CA354161140 | CASR | c.2725G>A (p.Ala909Thr) c.2986G>A (p.Ala996Thr) c.2956G>A (p.Ala986Thr) c.2473G>A (p.Ala825Thr) c.2368G>A (p.Ala790Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284910G>C | CA354161141 | CASR | c.2725G>C (p.Ala909Pro) c.2986G>C (p.Ala996Pro) c.2956G>C (p.Ala986Pro) c.2473G>C (p.Ala825Pro) c.2368G>C (p.Ala790Pro) | |
| 3 | g.122284910G= | CA1397873060 | CASR | c.2725G= (p.Ala909=) c.2986G= (p.Ala996=) c.2956G= (p.Ala986=) c.2473G= (p.Ala825=) c.2368G= (p.Ala790=) | |
| 3 | g.122284910G>T | CA119531 | CASR | c.2725G>T (p.Ala909Ser) c.2986G>T (p.Ala996Ser) c.2956G>T (p.Ala986Ser) c.2473G>T (p.Ala825Ser) c.2368G>T (p.Ala790Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284911C>A | CA354161142 | CASR | c.2726C>A (p.Ala909Asp) c.2987C>A (p.Ala996Asp) c.2957C>A (p.Ala986Asp) c.2474C>A (p.Ala825Asp) c.2369C>A (p.Ala790Asp) | ClinVar dbSNP |
| 3 | g.122284911C= | CA1397873062 | CASR | c.2726C= (p.Ala909=) c.2987C= (p.Ala996=) c.2957C= (p.Ala986=) c.2474C= (p.Ala825=) c.2369C= (p.Ala790=) | |
| 3 | g.122284911C>G | CA354161143 | CASR | c.2726C>G (p.Ala909Gly) c.2987C>G (p.Ala996Gly) c.2957C>G (p.Ala986Gly) c.2474C>G (p.Ala825Gly) c.2369C>G (p.Ala790Gly) | |
| 3 | g.122284911C>T | CA354161144 | CASR | c.2726C>T (p.Ala909Val) c.2987C>T (p.Ala996Val) c.2957C>T (p.Ala986Val) c.2474C>T (p.Ala825Val) c.2369C>T (p.Ala790Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284912C>A | CA435425769 | CASR | c.2727C>A (p.Ala909=) c.2988C>A (p.Ala996=) c.2958C>A (p.Ala986=) c.2475C>A (p.Ala825=) c.2370C>A (p.Ala790=) | |
| 3 | g.122284912C>G | CA435425770 | CASR | c.2727C>G (p.Ala909=) c.2988C>G (p.Ala996=) c.2958C>G (p.Ala986=) c.2475C>G (p.Ala825=) c.2370C>G (p.Ala790=) | |
| 3 | g.122284912C>T | CA435425771 | CASR | c.2727C>T (p.Ala909=) c.2988C>T (p.Ala996=) c.2958C>T (p.Ala986=) c.2475C>T (p.Ala825=) c.2370C>T (p.Ala790=) | |
| 3 | g.122284913A>C | CA354161145 | CASR | c.2728A>C (p.Met910Leu) c.2989A>C (p.Met997Leu) c.2959A>C (p.Met987Leu) c.2476A>C (p.Met826Leu) c.2371A>C (p.Met791Leu) | |
| 3 | g.122284913A>G | CA354161146 | CASR | c.2728A>G (p.Met910Val) c.2989A>G (p.Met997Val) c.2959A>G (p.Met987Val) c.2476A>G (p.Met826Val) c.2371A>G (p.Met791Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284913A>T | CA354161147 | CASR | c.2728A>T (p.Met910Leu) c.2989A>T (p.Met997Leu) c.2959A>T (p.Met987Leu) c.2476A>T (p.Met826Leu) c.2371A>T (p.Met791Leu) | |
| 3 | g.122284914T>A | CA354161148 | CASR | c.2729T>A (p.Met910Lys) c.2990T>A (p.Met997Lys) c.2960T>A (p.Met987Lys) c.2477T>A (p.Met826Lys) c.2372T>A (p.Met791Lys) | |
| 3 | g.122284914T>C | CA354161149 | CASR | c.2729T>C (p.Met910Thr) c.2990T>C (p.Met997Thr) c.2960T>C (p.Met987Thr) c.2477T>C (p.Met826Thr) c.2372T>C (p.Met791Thr) | |
| 3 | g.122284914T>G | CA354161150 | CASR | c.2729T>G (p.Met910Arg) c.2990T>G (p.Met997Arg) c.2960T>G (p.Met987Arg) c.2477T>G (p.Met826Arg) c.2372T>G (p.Met791Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284914T= | CA1397873063 | CASR | c.2729T= (p.Met910=) c.2990T= (p.Met997=) c.2960T= (p.Met987=) c.2477T= (p.Met826=) c.2372T= (p.Met791=) | |
| 3 | g.122284915G>A | CA354161151 | CASR | c.2730G>A (p.Met910Ile) c.2991G>A (p.Met997Ile) c.2961G>A (p.Met987Ile) c.2478G>A (p.Met826Ile) c.2373G>A (p.Met791Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284915G>C | CA354161153 | CASR | c.2730G>C (p.Met910Ile) c.2991G>C (p.Met997Ile) c.2961G>C (p.Met987Ile) c.2478G>C (p.Met826Ile) c.2373G>C (p.Met791Ile) | |
| 3 | g.122284915G= | CA1397873065 | CASR | c.2730G= (p.Met910=) c.2991G= (p.Met997=) c.2961G= (p.Met987=) c.2478G= (p.Met826=) c.2373G= (p.Met791=) | |
| 3 | g.122284915G>T | CA354161152 | CASR | c.2730G>T (p.Met910Ile) c.2991G>T (p.Met997Ile) c.2961G>T (p.Met987Ile) c.2478G>T (p.Met826Ile) c.2373G>T (p.Met791Ile) | |
| 3 | g.122284916G>A | CA82749374 | CASR | c.2731G>A (p.Ala911Thr) c.2992G>A (p.Ala998Thr) c.2962G>A (p.Ala988Thr) c.2479G>A (p.Ala827Thr) c.2374G>A (p.Ala792Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284916G>C | CA354161154 | CASR | c.2731G>C (p.Ala911Pro) c.2992G>C (p.Ala998Pro) c.2962G>C (p.Ala988Pro) c.2479G>C (p.Ala827Pro) c.2374G>C (p.Ala792Pro) | |
| 3 | g.122284916G= | CA1397873067 | CASR | c.2731G= (p.Ala911=) c.2992G= (p.Ala998=) c.2962G= (p.Ala988=) c.2479G= (p.Ala827=) c.2374G= (p.Ala792=) | |
| 3 | g.122284916G>T | CA354161155 | CASR | c.2731G>T (p.Ala911Ser) c.2992G>T (p.Ala998Ser) c.2962G>T (p.Ala988Ser) c.2479G>T (p.Ala827Ser) c.2374G>T (p.Ala792Ser) | |
| 3 | g.122284917C>A | CA354161156 | CASR | c.2732C>A (p.Ala911Asp) c.2993C>A (p.Ala998Asp) c.2963C>A (p.Ala988Asp) c.2480C>A (p.Ala827Asp) c.2375C>A (p.Ala792Asp) | |
| 3 | g.122284917C= | CA1397873068 | CASR | c.2732C= (p.Ala911=) c.2993C= (p.Ala998=) c.2963C= (p.Ala988=) c.2480C= (p.Ala827=) c.2375C= (p.Ala792=) | |
| 3 | g.122284917C>G | CA354161157 | CASR | c.2732C>G (p.Ala911Gly) c.2993C>G (p.Ala998Gly) c.2963C>G (p.Ala988Gly) c.2480C>G (p.Ala827Gly) c.2375C>G (p.Ala792Gly) | |
| 3 | g.122284917C>T | CA2569899 | CASR | c.2732C>T (p.Ala911Val) c.2993C>T (p.Ala998Val) c.2963C>T (p.Ala988Val) c.2480C>T (p.Ala827Val) c.2375C>T (p.Ala792Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284918C>A | CA435425776 | CASR | c.2733C>A (p.Ala911=) c.2994C>A (p.Ala998=) c.2964C>A (p.Ala988=) c.2481C>A (p.Ala827=) c.2376C>A (p.Ala792=) | |
| 3 | g.122284918C= | CA1397873070 | CASR | c.2733C= (p.Ala911=) c.2994C= (p.Ala998=) c.2964C= (p.Ala988=) c.2481C= (p.Ala827=) c.2376C= (p.Ala792=) | |
| 3 | g.122284918C>G | CA82749380 | CASR | c.2733C>G (p.Ala911=) c.2994C>G (p.Ala998=) c.2964C>G (p.Ala988=) c.2481C>G (p.Ala827=) c.2376C>G (p.Ala792=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284918C>T | CA435425777 | CASR | c.2733C>T (p.Ala911=) c.2994C>T (p.Ala998=) c.2964C>T (p.Ala988=) c.2481C>T (p.Ala827=) c.2376C>T (p.Ala792=) | |
| 3 | g.122284919C>A | CA354161158 | CASR | c.2734C>A (p.His912Asn) c.2995C>A (p.His999Asn) c.2965C>A (p.His989Asn) c.2482C>A (p.His828Asn) c.2377C>A (p.His793Asn) | dbSNP gnomAD v4 |
| 3 | g.122284919C= | CA1397873072 | CASR | c.2734C= (p.His912=) c.2995C= (p.His999=) c.2965C= (p.His989=) c.2482C= (p.His828=) c.2377C= (p.His793=) | |
| 3 | g.122284919C>G | CA354161159 | CASR | c.2734C>G (p.His912Asp) c.2995C>G (p.His999Asp) c.2965C>G (p.His989Asp) c.2482C>G (p.His828Asp) c.2377C>G (p.His793Asp) | |
| 3 | g.122284919C>T | CA354161160 | CASR | c.2734C>T (p.His912Tyr) c.2995C>T (p.His999Tyr) c.2965C>T (p.His989Tyr) c.2482C>T (p.His828Tyr) c.2377C>T (p.His793Tyr) | dbSNP gnomAD v4 |
| 3 | g.122284920A= | CA1397873073 | CASR | c.2735A= (p.His912=) c.2996A= (p.His999=) c.2966A= (p.His989=) c.2483A= (p.His828=) c.2378A= (p.His793=) | |
| 3 | g.122284920A>C | CA354161161 | CASR | c.2735A>C (p.His912Pro) c.2996A>C (p.His999Pro) c.2966A>C (p.His989Pro) c.2483A>C (p.His828Pro) c.2378A>C (p.His793Pro) | |
| 3 | g.122284920A>G | CA354161162 | CASR | c.2735A>G (p.His912Arg) c.2996A>G (p.His999Arg) c.2966A>G (p.His989Arg) c.2483A>G (p.His828Arg) c.2378A>G (p.His793Arg) | dbSNP gnomAD v4 |
| 3 | g.122284920A>T | CA354161163 | CASR | c.2735A>T (p.His912Leu) c.2996A>T (p.His999Leu) c.2966A>T (p.His989Leu) c.2483A>T (p.His828Leu) c.2378A>T (p.His793Leu) | |
| 3 | g.122284921C>A | CA354161164 | CASR | c.2736C>A (p.His912Gln) c.2997C>A (p.His999Gln) c.2967C>A (p.His989Gln) c.2484C>A (p.His828Gln) c.2379C>A (p.His793Gln) | |
| 3 | g.122284921C>G | CA354161165 | CASR | c.2736C>G (p.His912Gln) c.2997C>G (p.His999Gln) c.2967C>G (p.His989Gln) c.2484C>G (p.His828Gln) c.2379C>G (p.His793Gln) | |
| 3 | g.122284921C>T | CA435425779 | CASR | c.2736C>T (p.His912=) c.2997C>T (p.His999=) c.2967C>T (p.His989=) c.2484C>T (p.His828=) c.2379C>T (p.His793=) | gnomAD v4 |