| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284607_122284636del | CA2580068666 | CASR | c.2422_2451del (p.Ala808_Val817del) c.2683_2712del (p.Ala895_Val904del) c.2653_2682del (p.Ala885_Val894del) c.2170_2199del (p.Ala724_Val733del) c.2065_2094del (p.Ala689_Val698del) | ClinVar dbSNP |
| 3 | g.122284615C>A | CA435425436 | CASR | c.2430C>A (p.Ala810=) c.2691C>A (p.Ala897=) c.2661C>A (p.Ala887=) c.2178C>A (p.Ala726=) c.2073C>A (p.Ala691=) | |
| 3 | g.122284615C>G | CA435425437 | CASR | c.2430C>G (p.Ala810=) c.2691C>G (p.Ala897=) c.2661C>G (p.Ala887=) c.2178C>G (p.Ala726=) c.2073C>G (p.Ala691=) | |
| 3 | g.122284615C>T | CA435425438 | CASR | c.2430C>T (p.Ala810=) c.2691C>T (p.Ala897=) c.2661C>T (p.Ala887=) c.2178C>T (p.Ala726=) c.2073C>T (p.Ala691=) | |
| 3 | g.122284615_122284631delinsCACGCTGCGCCGCAGCA | CA1397872740 | CASR | c.2430_2446delinsCACGCTGCGCCGCAGCA (p.Ala810=) c.2691_2707delinsCACGCTGCGCCGCAGCA (p.Ala897=) c.2661_2677delinsCACGCTGCGCCGCAGCA (p.Ala887=) c.2178_2194delinsCACGCTGCGCCGCAGCA (p.Ala726=) c.2073_2089delinsCACGCTGCGCCGCAGCA (p.Ala691=) | |
| 3 | g.122284616A= | CA1397872745 | CASR | c.2431A= (p.Thr811=) c.2692A= (p.Thr898=) c.2662A= (p.Thr888=) c.2179A= (p.Thr727=) c.2074A= (p.Thr692=) | |
| 3 | g.122284616A>C | CA354160510 | CASR | c.2431A>C (p.Thr811Pro) c.2692A>C (p.Thr898Pro) c.2662A>C (p.Thr888Pro) c.2179A>C (p.Thr727Pro) c.2074A>C (p.Thr692Pro) | dbSNP |
| 3 | g.122284616A>G | CA354160511 | CASR | c.2431A>G (p.Thr811Ala) c.2692A>G (p.Thr898Ala) c.2662A>G (p.Thr888Ala) c.2179A>G (p.Thr727Ala) c.2074A>G (p.Thr692Ala) | |
| 3 | g.122284616A>T | CA354160512 | CASR | c.2431A>T (p.Thr811Ser) c.2692A>T (p.Thr898Ser) c.2662A>T (p.Thr888Ser) c.2179A>T (p.Thr727Ser) c.2074A>T (p.Thr692Ser) | gnomAD v4 |
| 3 | g.122284619_122284634del | CA915941533 | CASR | c.2434_2449del (p.Leu812SerfsTer?) c.2695_2710del (p.Leu899SerfsTer?) c.2665_2680del (p.Leu889SerfsTer?) c.2182_2197del (p.Leu728SerfsTer?) c.2077_2092del (p.Leu693SerfsTer?) | ClinVar dbSNP |
| 3 | g.122284617C>A | CA354160513 | CASR | c.2432C>A (p.Thr811Lys) c.2693C>A (p.Thr898Lys) c.2663C>A (p.Thr888Lys) c.2180C>A (p.Thr727Lys) c.2075C>A (p.Thr692Lys) | |
| 3 | g.122284617C>G | CA354160514 | CASR | c.2432C>G (p.Thr811Arg) c.2693C>G (p.Thr898Arg) c.2663C>G (p.Thr888Arg) c.2180C>G (p.Thr727Arg) c.2075C>G (p.Thr692Arg) | |
| 3 | g.122284617C>T | CA354160515 | CASR | c.2432C>T (p.Thr811Met) c.2693C>T (p.Thr898Met) c.2663C>T (p.Thr888Met) c.2180C>T (p.Thr727Met) c.2075C>T (p.Thr692Met) | ClinVar gnomAD v4 |
| 3 | g.122284618G>A | CA2569840 | CASR | c.2433G>A (p.Thr811=) c.2694G>A (p.Thr898=) c.2664G>A (p.Thr888=) c.2181G>A (p.Thr727=) c.2076G>A (p.Thr692=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284618G>C | CA435425440 | CASR | c.2433G>C (p.Thr811=) c.2694G>C (p.Thr898=) c.2664G>C (p.Thr888=) c.2181G>C (p.Thr727=) c.2076G>C (p.Thr692=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284618G= | CA1397872752 | CASR | c.2433G= (p.Thr811=) c.2694G= (p.Thr898=) c.2664G= (p.Thr888=) c.2181G= (p.Thr727=) c.2076G= (p.Thr692=) | |
| 3 | g.122284618G>T | CA435425441 | CASR | c.2433G>T (p.Thr811=) c.2694G>T (p.Thr898=) c.2664G>T (p.Thr888=) c.2181G>T (p.Thr727=) c.2076G>T (p.Thr692=) | ClinVar dbSNP COSMIC |
| 3 | g.122284619C>A | CA354160517 | CASR | c.2434C>A (p.Leu812Met) c.2695C>A (p.Leu899Met) c.2665C>A (p.Leu889Met) c.2182C>A (p.Leu728Met) c.2077C>A (p.Leu693Met) | |
| 3 | g.122284619C>G | CA354160516 | CASR | c.2434C>G (p.Leu812Val) c.2695C>G (p.Leu899Val) c.2665C>G (p.Leu889Val) c.2182C>G (p.Leu728Val) c.2077C>G (p.Leu693Val) | |
| 3 | g.122284619C>T | CA435425442 | CASR | c.2434C>T (p.Leu812=) c.2695C>T (p.Leu899=) c.2665C>T (p.Leu889=) c.2182C>T (p.Leu728=) c.2077C>T (p.Leu693=) | |
| 3 | g.122284620T>A | CA354160518 | CASR | c.2435T>A (p.Leu812Gln) c.2696T>A (p.Leu899Gln) c.2666T>A (p.Leu889Gln) c.2183T>A (p.Leu728Gln) c.2078T>A (p.Leu693Gln) | |
| 3 | g.122284620T>C | CA354160519 | CASR | c.2435T>C (p.Leu812Pro) c.2696T>C (p.Leu899Pro) c.2666T>C (p.Leu889Pro) c.2183T>C (p.Leu728Pro) c.2078T>C (p.Leu693Pro) | |
| 3 | g.122284620T>G | CA354160520 | CASR | c.2435T>G (p.Leu812Arg) c.2696T>G (p.Leu899Arg) c.2666T>G (p.Leu889Arg) c.2183T>G (p.Leu728Arg) c.2078T>G (p.Leu693Arg) | |
| 3 | g.122284621G>A | CA435425443 | CASR | c.2436G>A (p.Leu812=) c.2697G>A (p.Leu899=) c.2667G>A (p.Leu889=) c.2184G>A (p.Leu728=) c.2079G>A (p.Leu693=) | dbSNP gnomAD v4 |
| 3 | g.122284621G>C | CA82749120 | CASR | c.2436G>C (p.Leu812=) c.2697G>C (p.Leu899=) c.2667G>C (p.Leu889=) c.2184G>C (p.Leu728=) c.2079G>C (p.Leu693=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284621G= | CA1397872759 | CASR | c.2436G= (p.Leu812=) c.2697G= (p.Leu899=) c.2667G= (p.Leu889=) c.2184G= (p.Leu728=) c.2079G= (p.Leu693=) | |
| 3 | g.122284621G>T | CA435425445 | CASR | c.2436G>T (p.Leu812=) c.2697G>T (p.Leu899=) c.2667G>T (p.Leu889=) c.2184G>T (p.Leu728=) c.2079G>T (p.Leu693=) | |
| 3 | g.122284622C>A | CA354160521 | CASR | c.2437C>A (p.Arg813Ser) c.2698C>A (p.Arg900Ser) c.2668C>A (p.Arg890Ser) c.2185C>A (p.Arg729Ser) c.2080C>A (p.Arg694Ser) | dbSNP |
| 3 | g.122284622C= | CA1397872765 | CASR | c.2437C= (p.Arg813=) c.2698C= (p.Arg900=) c.2668C= (p.Arg890=) c.2185C= (p.Arg729=) c.2080C= (p.Arg694=) | |
| 3 | g.122284622C>G | CA354160522 | CASR | c.2437C>G (p.Arg813Gly) c.2698C>G (p.Arg900Gly) c.2668C>G (p.Arg890Gly) c.2185C>G (p.Arg729Gly) c.2080C>G (p.Arg694Gly) | |
| 3 | g.122284622C>T | CA2569841 | CASR | c.2437C>T (p.Arg813Cys) c.2698C>T (p.Arg900Cys) c.2668C>T (p.Arg890Cys) c.2185C>T (p.Arg729Cys) c.2080C>T (p.Arg694Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284623G>A | CA2569842 | CASR | c.2438G>A (p.Arg813His) c.2699G>A (p.Arg900His) c.2669G>A (p.Arg890His) c.2186G>A (p.Arg729His) c.2081G>A (p.Arg694His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284623G>C | CA354160523 | CASR | c.2438G>C (p.Arg813Pro) c.2699G>C (p.Arg900Pro) c.2669G>C (p.Arg890Pro) c.2186G>C (p.Arg729Pro) c.2081G>C (p.Arg694Pro) | |
| 3 | g.122284623G= | CA1397872773 | CASR | c.2438G= (p.Arg813=) c.2699G= (p.Arg900=) c.2669G= (p.Arg890=) c.2186G= (p.Arg729=) c.2081G= (p.Arg694=) | |
| 3 | g.122284623G>T | CA354160524 | CASR | c.2438G>T (p.Arg813Leu) c.2699G>T (p.Arg900Leu) c.2669G>T (p.Arg890Leu) c.2186G>T (p.Arg729Leu) c.2081G>T (p.Arg694Leu) | |
| 3 | g.122284624C>A | CA435425447 | CASR | c.2439C>A (p.Arg813=) c.2700C>A (p.Arg900=) c.2670C>A (p.Arg890=) c.2187C>A (p.Arg729=) c.2082C>A (p.Arg694=) | |
| 3 | g.122284624C= | CA1397872777 | CASR | c.2439C= (p.Arg813=) c.2700C= (p.Arg900=) c.2670C= (p.Arg890=) c.2187C= (p.Arg729=) c.2082C= (p.Arg694=) | |
| 3 | g.122284624C>G | CA435425449 | CASR | c.2439C>G (p.Arg813=) c.2700C>G (p.Arg900=) c.2670C>G (p.Arg890=) c.2187C>G (p.Arg729=) c.2082C>G (p.Arg694=) | |
| 3 | g.122284624C>T | CA435425450 | CASR | c.2439C>T (p.Arg813=) c.2700C>T (p.Arg900=) c.2670C>T (p.Arg890=) c.2187C>T (p.Arg729=) c.2082C>T (p.Arg694=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284625C>A | CA354160527 | CASR | c.2440C>A (p.Arg814Ser) c.2701C>A (p.Arg901Ser) c.2671C>A (p.Arg891Ser) c.2188C>A (p.Arg730Ser) c.2083C>A (p.Arg695Ser) | gnomAD v4 |
| 3 | g.122284625C= | CA1397872780 | CASR | c.2440C= (p.Arg814=) c.2701C= (p.Arg901=) c.2671C= (p.Arg891=) c.2188C= (p.Arg730=) c.2083C= (p.Arg695=) | |
| 3 | g.122284625C>G | CA354160526 | CASR | c.2440C>G (p.Arg814Gly) c.2701C>G (p.Arg901Gly) c.2671C>G (p.Arg891Gly) c.2188C>G (p.Arg730Gly) c.2083C>G (p.Arg695Gly) | ClinVar COSMIC |
| 3 | g.122284625C>T | CA354160525 | CASR | c.2440C>T (p.Arg814Cys) c.2701C>T (p.Arg901Cys) c.2671C>T (p.Arg891Cys) c.2188C>T (p.Arg730Cys) c.2083C>T (p.Arg695Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284626G>A | CA2569843 | CASR | c.2441G>A (p.Arg814His) c.2702G>A (p.Arg901His) c.2672G>A (p.Arg891His) c.2189G>A (p.Arg730His) c.2084G>A (p.Arg695His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284626G>C | CA354160528 | CASR | c.2441G>C (p.Arg814Pro) c.2702G>C (p.Arg901Pro) c.2672G>C (p.Arg891Pro) c.2189G>C (p.Arg730Pro) c.2084G>C (p.Arg695Pro) | COSMIC |
| 3 | g.122284626G= | CA1397872783 | CASR | c.2441G= (p.Arg814=) c.2702G= (p.Arg901=) c.2672G= (p.Arg891=) c.2189G= (p.Arg730=) c.2084G= (p.Arg695=) | |
| 3 | g.122284626G>T | CA354160529 | CASR | c.2441G>T (p.Arg814Leu) c.2702G>T (p.Arg901Leu) c.2672G>T (p.Arg891Leu) c.2189G>T (p.Arg730Leu) c.2084G>T (p.Arg695Leu) | |
| 3 | g.122284627C>A | CA435425452 | CASR | c.2442C>A (p.Arg814=) c.2703C>A (p.Arg901=) c.2673C>A (p.Arg891=) c.2190C>A (p.Arg730=) c.2085C>A (p.Arg695=) | |
| 3 | g.122284627C>G | CA435425453 | CASR | c.2442C>G (p.Arg814=) c.2703C>G (p.Arg901=) c.2673C>G (p.Arg891=) c.2190C>G (p.Arg730=) c.2085C>G (p.Arg695=) | |
| 3 | g.122284627C>T | CA435425454 | CASR | c.2442C>T (p.Arg814=) c.2703C>T (p.Arg901=) c.2673C>T (p.Arg891=) c.2190C>T (p.Arg730=) c.2085C>T (p.Arg695=) | ClinVar |
| 3 | g.122284628A>C | CA354160530 | CASR | c.2443A>C (p.Ser815Arg) c.2704A>C (p.Ser902Arg) c.2674A>C (p.Ser892Arg) c.2191A>C (p.Ser731Arg) c.2086A>C (p.Ser696Arg) | |
| 3 | g.122284628A>G | CA354160531 | CASR | c.2443A>G (p.Ser815Gly) c.2704A>G (p.Ser902Gly) c.2674A>G (p.Ser892Gly) c.2191A>G (p.Ser731Gly) c.2086A>G (p.Ser696Gly) | |
| 3 | g.122284628A>T | CA354160532 | CASR | c.2443A>T (p.Ser815Cys) c.2704A>T (p.Ser902Cys) c.2674A>T (p.Ser892Cys) c.2191A>T (p.Ser731Cys) c.2086A>T (p.Ser696Cys) | |
| 3 | g.122284629G>A | CA354160533 | CASR | c.2444G>A (p.Ser815Asn) c.2705G>A (p.Ser902Asn) c.2675G>A (p.Ser892Asn) c.2192G>A (p.Ser731Asn) c.2087G>A (p.Ser696Asn) | |
| 3 | g.122284629G>C | CA354160534 | CASR | c.2444G>C (p.Ser815Thr) c.2705G>C (p.Ser902Thr) c.2675G>C (p.Ser892Thr) c.2192G>C (p.Ser731Thr) c.2087G>C (p.Ser696Thr) | |
| 3 | g.122284629G>T | CA354160535 | CASR | c.2444G>T (p.Ser815Ile) c.2705G>T (p.Ser902Ile) c.2675G>T (p.Ser892Ile) c.2192G>T (p.Ser731Ile) c.2087G>T (p.Ser696Ile) | |
| 3 | g.122284630C>A | CA354160536 | CASR | c.2445C>A (p.Ser815Arg) c.2706C>A (p.Ser902Arg) c.2676C>A (p.Ser892Arg) c.2193C>A (p.Ser731Arg) c.2088C>A (p.Ser696Arg) | |
| 3 | g.122284630C>G | CA354160537 | CASR | c.2445C>G (p.Ser815Arg) c.2706C>G (p.Ser902Arg) c.2676C>G (p.Ser892Arg) c.2193C>G (p.Ser731Arg) c.2088C>G (p.Ser696Arg) | |
| 3 | g.122284630C>T | CA435425456 | CASR | c.2445C>T (p.Ser815=) c.2706C>T (p.Ser902=) c.2676C>T (p.Ser892=) c.2193C>T (p.Ser731=) c.2088C>T (p.Ser696=) | |
| 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.122284631A= | CA1397872793 | CASR | c.2446A= (p.Asn816=) c.2707A= (p.Asn903=) c.2677A= (p.Asn893=) c.2194A= (p.Asn732=) c.2089A= (p.Asn697=) | |
| 3 | g.122284631A>C | CA354160540 | CASR | c.2446A>C (p.Asn816His) c.2707A>C (p.Asn903His) c.2677A>C (p.Asn893His) c.2194A>C (p.Asn732His) c.2089A>C (p.Asn697His) | |
| 3 | g.122284631A>G | CA354160539 | CASR | c.2446A>G (p.Asn816Asp) c.2707A>G (p.Asn903Asp) c.2677A>G (p.Asn893Asp) c.2194A>G (p.Asn732Asp) c.2089A>G (p.Asn697Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284631A>T | CA354160538 | CASR | c.2446A>T (p.Asn816Tyr) c.2707A>T (p.Asn903Tyr) c.2677A>T (p.Asn893Tyr) c.2194A>T (p.Asn732Tyr) c.2089A>T (p.Asn697Tyr) | |
| 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.122284632A>C | CA354160541 | CASR | c.2447A>C (p.Asn816Thr) c.2708A>C (p.Asn903Thr) c.2678A>C (p.Asn893Thr) c.2195A>C (p.Asn732Thr) c.2090A>C (p.Asn697Thr) | |
| 3 | g.122284632A>G | CA354160542 | CASR | c.2447A>G (p.Asn816Ser) c.2708A>G (p.Asn903Ser) c.2678A>G (p.Asn893Ser) c.2195A>G (p.Asn732Ser) c.2090A>G (p.Asn697Ser) | |
| 3 | g.122284632A>T | CA354160543 | CASR | c.2447A>T (p.Asn816Ile) c.2708A>T (p.Asn903Ile) c.2678A>T (p.Asn893Ile) c.2195A>T (p.Asn732Ile) c.2090A>T (p.Asn697Ile) | |
| 3 | g.122284633C>A | CA354160544 | CASR | c.2448C>A (p.Asn816Lys) c.2709C>A (p.Asn903Lys) c.2679C>A (p.Asn893Lys) c.2196C>A (p.Asn732Lys) c.2091C>A (p.Asn697Lys) | |
| 3 | g.122284633C= | CA1397872798 | CASR | c.2448C= (p.Asn816=) c.2709C= (p.Asn903=) c.2679C= (p.Asn893=) c.2196C= (p.Asn732=) c.2091C= (p.Asn697=) | |
| 3 | g.122284633C>G | CA354160545 | CASR | c.2448C>G (p.Asn816Lys) c.2709C>G (p.Asn903Lys) c.2679C>G (p.Asn893Lys) c.2196C>G (p.Asn732Lys) c.2091C>G (p.Asn697Lys) | |
| 3 | g.122284633C>T | CA2569844 | CASR | c.2448C>T (p.Asn816=) c.2709C>T (p.Asn903=) c.2679C>T (p.Asn893=) c.2196C>T (p.Asn732=) c.2091C>T (p.Asn697=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284634G>A | CA354160546 | CASR | c.2449G>A (p.Val817Ile) c.2710G>A (p.Val904Ile) c.2680G>A (p.Val894Ile) c.2197G>A (p.Val733Ile) c.2092G>A (p.Val698Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284634G>C | CA354160547 | CASR | c.2449G>C (p.Val817Leu) c.2710G>C (p.Val904Leu) c.2680G>C (p.Val894Leu) c.2197G>C (p.Val733Leu) c.2092G>C (p.Val698Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284634G= | CA1397872806 | CASR | c.2449G= (p.Val817=) c.2710G= (p.Val904=) c.2680G= (p.Val894=) c.2197G= (p.Val733=) c.2092G= (p.Val698=) | |
| 3 | g.122284634G>T | CA2569845 | CASR | c.2449G>T (p.Val817Phe) c.2710G>T (p.Val904Phe) c.2680G>T (p.Val894Phe) c.2197G>T (p.Val733Phe) c.2092G>T (p.Val698Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284635T>A | CA354160548 | CASR | c.2450T>A (p.Val817Asp) c.2711T>A (p.Val904Asp) c.2681T>A (p.Val894Asp) c.2198T>A (p.Val733Asp) c.2093T>A (p.Val698Asp) | |
| 3 | g.122284635T>C | CA354160549 | CASR | c.2450T>C (p.Val817Ala) c.2711T>C (p.Val904Ala) c.2681T>C (p.Val894Ala) c.2198T>C (p.Val733Ala) c.2093T>C (p.Val698Ala) | |
| 3 | g.122284635T>G | CA354160550 | CASR | c.2450T>G (p.Val817Gly) c.2711T>G (p.Val904Gly) c.2681T>G (p.Val894Gly) c.2198T>G (p.Val733Gly) c.2093T>G (p.Val698Gly) | |
| 3 | g.122284636del | CA2586972875 | CASR | c.2451del (p.Ser818ProfsTer?) c.2712del (p.Ser905ProfsTer?) c.2682del (p.Ser895ProfsTer?) c.2199del (p.Ser734ProfsTer?) c.2094del (p.Ser699ProfsTer?) | |
| 3 | g.122284636C>A | CA435425459 | CASR | c.2451C>A (p.Val817=) c.2712C>A (p.Val904=) c.2682C>A (p.Val894=) c.2199C>A (p.Val733=) c.2094C>A (p.Val698=) | |
| 3 | g.122284636C>G | CA435425460 | CASR | c.2451C>G (p.Val817=) c.2712C>G (p.Val904=) c.2682C>G (p.Val894=) c.2199C>G (p.Val733=) c.2094C>G (p.Val698=) | gnomAD v4 |
| 3 | g.122284636C>T | CA435425461 | CASR | c.2451C>T (p.Val817=) c.2712C>T (p.Val904=) c.2682C>T (p.Val894=) c.2199C>T (p.Val733=) c.2094C>T (p.Val698=) | COSMIC |
| 3 | g.122284637T>A | CA354160551 | CASR | c.2452T>A (p.Ser818Thr) c.2713T>A (p.Ser905Thr) c.2683T>A (p.Ser895Thr) c.2200T>A (p.Ser734Thr) c.2095T>A (p.Ser699Thr) | |
| 3 | g.122284637T>C | CA354160552 | CASR | c.2452T>C (p.Ser818Pro) c.2713T>C (p.Ser905Pro) c.2683T>C (p.Ser895Pro) c.2200T>C (p.Ser734Pro) c.2095T>C (p.Ser699Pro) | dbSNP gnomAD v2 |
| 3 | g.122284637T>G | CA354160553 | CASR | c.2452T>G (p.Ser818Ala) c.2713T>G (p.Ser905Ala) c.2683T>G (p.Ser895Ala) c.2200T>G (p.Ser734Ala) c.2095T>G (p.Ser699Ala) | |
| 3 | g.122284637T= | CA1397872810 | CASR | c.2452T= (p.Ser818=) c.2713T= (p.Ser905=) c.2683T= (p.Ser895=) c.2200T= (p.Ser734=) c.2095T= (p.Ser699=) | |
| 3 | g.122284637_122284638delinsTC | CA1397872808 | CASR | c.2452_2453delinsTC (p.Ser818=) c.2713_2714delinsTC (p.Ser905=) c.2683_2684delinsTC (p.Ser895=) c.2200_2201delinsTC (p.Ser734=) c.2095_2096delinsTC (p.Ser699=) | |
| 3 | g.122284638C>A | CA354160554 | CASR | c.2453C>A (p.Ser818Tyr) c.2714C>A (p.Ser905Tyr) c.2684C>A (p.Ser895Tyr) c.2201C>A (p.Ser734Tyr) c.2096C>A (p.Ser699Tyr) | |
| 3 | g.122284638C= | CA1397872812 | CASR | c.2453C= (p.Ser818=) c.2714C= (p.Ser905=) c.2684C= (p.Ser895=) c.2201C= (p.Ser734=) c.2096C= (p.Ser699=) | |
| 3 | g.122284638C>G | CA354160555 | CASR | c.2453C>G (p.Ser818Cys) c.2714C>G (p.Ser905Cys) c.2684C>G (p.Ser895Cys) c.2201C>G (p.Ser734Cys) c.2096C>G (p.Ser699Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284638C>T | CA354160556 | CASR | c.2453C>T (p.Ser818Phe) c.2714C>T (p.Ser905Phe) c.2684C>T (p.Ser895Phe) c.2201C>T (p.Ser734Phe) c.2096C>T (p.Ser699Phe) | |
| 3 | g.122284640del | CA213592 | CASR | c.2455del (p.Arg819AlafsTer?) c.2716del (p.Arg906AlafsTer?) c.2686del (p.Arg896AlafsTer?) c.2203del (p.Arg735AlafsTer?) c.2098del (p.Arg700AlafsTer?) | ClinVar dbSNP |
| 3 | g.122284639C>A | CA435425462 | CASR | c.2454C>A (p.Ser818=) c.2715C>A (p.Ser905=) c.2685C>A (p.Ser895=) c.2202C>A (p.Ser734=) c.2097C>A (p.Ser699=) | |
| 3 | g.122284639C>G | CA435425463 | CASR | c.2454C>G (p.Ser818=) c.2715C>G (p.Ser905=) c.2685C>G (p.Ser895=) c.2202C>G (p.Ser734=) c.2097C>G (p.Ser699=) | |
| 3 | g.122284639C>T | CA435425464 | CASR | c.2454C>T (p.Ser818=) c.2715C>T (p.Ser905=) c.2685C>T (p.Ser895=) c.2202C>T (p.Ser734=) c.2097C>T (p.Ser699=) | ClinVar COSMIC |
| 3 | g.122284640C>A | CA354160557 | CASR | c.2455C>A (p.Arg819Ser) c.2716C>A (p.Arg906Ser) c.2686C>A (p.Arg896Ser) c.2203C>A (p.Arg735Ser) c.2098C>A (p.Arg700Ser) | |
| 3 | g.122284640C= | CA1397872816 | CASR | c.2455C= (p.Arg819=) c.2716C= (p.Arg906=) c.2686C= (p.Arg896=) c.2203C= (p.Arg735=) c.2098C= (p.Arg700=) | |
| 3 | g.122284640C>G | CA2569846 | CASR | c.2455C>G (p.Arg819Gly) c.2716C>G (p.Arg906Gly) c.2686C>G (p.Arg896Gly) c.2203C>G (p.Arg735Gly) c.2098C>G (p.Arg700Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284640C>T | CA2569847 | CASR | c.2455C>T (p.Arg819Cys) c.2716C>T (p.Arg906Cys) c.2686C>T (p.Arg896Cys) c.2203C>T (p.Arg735Cys) c.2098C>T (p.Arg700Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284641G>A | CA16611132 | CASR | c.2456G>A (p.Arg819His) c.2717G>A (p.Arg906His) c.2687G>A (p.Arg896His) c.2204G>A (p.Arg735His) c.2099G>A (p.Arg700His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284641G>C | CA354160558 | CASR | c.2456G>C (p.Arg819Pro) c.2717G>C (p.Arg906Pro) c.2687G>C (p.Arg896Pro) c.2204G>C (p.Arg735Pro) c.2099G>C (p.Arg700Pro) | |
| 3 | g.122284641G= | CA1397872818 | CASR | c.2456G= (p.Arg819=) c.2717G= (p.Arg906=) c.2687G= (p.Arg896=) c.2204G= (p.Arg735=) c.2099G= (p.Arg700=) | |
| 3 | g.122284641G>T | CA2569848 | CASR | c.2456G>T (p.Arg819Leu) c.2717G>T (p.Arg906Leu) c.2687G>T (p.Arg896Leu) c.2204G>T (p.Arg735Leu) c.2099G>T (p.Arg700Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284642C>A | CA82749164 | CASR | c.2457C>A (p.Arg819=) c.2718C>A (p.Arg906=) c.2688C>A (p.Arg896=) c.2205C>A (p.Arg735=) c.2100C>A (p.Arg700=) | ClinVar dbSNP |
| 3 | g.122284642C= | CA1397872821 | CASR | c.2457C= (p.Arg819=) c.2718C= (p.Arg906=) c.2688C= (p.Arg896=) c.2205C= (p.Arg735=) c.2100C= (p.Arg700=) | |
| 3 | g.122284642C>G | CA435425470 | CASR | c.2457C>G (p.Arg819=) c.2718C>G (p.Arg906=) c.2688C>G (p.Arg896=) c.2205C>G (p.Arg735=) c.2100C>G (p.Arg700=) | |
| 3 | g.122284642C>T | CA435425469 | CASR | c.2457C>T (p.Arg819=) c.2718C>T (p.Arg906=) c.2688C>T (p.Arg896=) c.2205C>T (p.Arg735=) c.2100C>T (p.Arg700=) | |
| 3 | g.122284643A>C | CA354160561 | CASR | c.2458A>C (p.Lys820Gln) c.2719A>C (p.Lys907Gln) c.2689A>C (p.Lys897Gln) c.2206A>C (p.Lys736Gln) c.2101A>C (p.Lys701Gln) | |
| 3 | g.122284643A>G | CA354160560 | CASR | c.2458A>G (p.Lys820Glu) c.2719A>G (p.Lys907Glu) c.2689A>G (p.Lys897Glu) c.2206A>G (p.Lys736Glu) c.2101A>G (p.Lys701Glu) | |
| 3 | g.122284643A>T | CA354160559 | CASR | c.2458A>T (p.Lys820Ter) c.2719A>T (p.Lys907Ter) c.2689A>T (p.Lys897Ter) c.2206A>T (p.Lys736Ter) c.2101A>T (p.Lys701Ter) | |
| 3 | g.122284644A= | CA1397872823 | CASR | c.2459A= (p.Lys820=) c.2720A= (p.Lys907=) c.2690A= (p.Lys897=) c.2207A= (p.Lys736=) c.2102A= (p.Lys701=) | |
| 3 | g.122284644A>C | CA354160562 | CASR | c.2459A>C (p.Lys820Thr) c.2720A>C (p.Lys907Thr) c.2690A>C (p.Lys897Thr) c.2207A>C (p.Lys736Thr) c.2102A>C (p.Lys701Thr) | |
| 3 | g.122284644A>G | CA82749167 | CASR | c.2459A>G (p.Lys820Arg) c.2720A>G (p.Lys907Arg) c.2690A>G (p.Lys897Arg) c.2207A>G (p.Lys736Arg) c.2102A>G (p.Lys701Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284644A>T | CA354160563 | CASR | c.2459A>T (p.Lys820Met) c.2720A>T (p.Lys907Met) c.2690A>T (p.Lys897Met) c.2207A>T (p.Lys736Met) c.2102A>T (p.Lys701Met) | |
| 3 | g.122284645G>A | CA435425474 | CASR | c.2460G>A (p.Lys820=) c.2721G>A (p.Lys907=) c.2691G>A (p.Lys897=) c.2208G>A (p.Lys736=) c.2103G>A (p.Lys701=) | |
| 3 | g.122284645G>C | CA354160564 | CASR | c.2460G>C (p.Lys820Asn) c.2721G>C (p.Lys907Asn) c.2691G>C (p.Lys897Asn) c.2208G>C (p.Lys736Asn) c.2103G>C (p.Lys701Asn) | |
| 3 | g.122284645G>T | CA354160565 | CASR | c.2460G>T (p.Lys820Asn) c.2721G>T (p.Lys907Asn) c.2691G>T (p.Lys897Asn) c.2208G>T (p.Lys736Asn) c.2103G>T (p.Lys701Asn) | |
| 3 | g.122284645dup | CA2586972876 | CASR | c.2460dup (p.Arg821AlafsTer?) c.2721dup (p.Arg908AlafsTer?) c.2691dup (p.Arg898AlafsTer?) c.2208dup (p.Arg737AlafsTer?) c.2103dup (p.Arg702AlafsTer?) | |
| 3 | g.122284646C>A | CA2569849 | CASR | c.2461C>A (p.Arg821=) c.2722C>A (p.Arg908=) c.2692C>A (p.Arg898=) c.2209C>A (p.Arg737=) c.2104C>A (p.Arg702=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284646C= | CA1397872825 | CASR | c.2461C= (p.Arg821=) c.2722C= (p.Arg908=) c.2692C= (p.Arg898=) c.2209C= (p.Arg737=) c.2104C= (p.Arg702=) | |
| 3 | g.122284646C>G | CA354160566 | CASR | c.2461C>G (p.Arg821Gly) c.2722C>G (p.Arg908Gly) c.2692C>G (p.Arg898Gly) c.2209C>G (p.Arg737Gly) c.2104C>G (p.Arg702Gly) | |
| 3 | g.122284646C>T | CA354160567 | CASR | c.2461C>T (p.Arg821Trp) c.2722C>T (p.Arg908Trp) c.2692C>T (p.Arg898Trp) c.2209C>T (p.Arg737Trp) c.2104C>T (p.Arg702Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284647G>A | CA119549 | CASR | c.2462G>A (p.Arg821Gln) c.2723G>A (p.Arg908Gln) c.2693G>A (p.Arg898Gln) c.2210G>A (p.Arg737Gln) c.2105G>A (p.Arg702Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284647G>C | CA354160568 | CASR | c.2462G>C (p.Arg821Pro) c.2723G>C (p.Arg908Pro) c.2693G>C (p.Arg898Pro) c.2210G>C (p.Arg737Pro) c.2105G>C (p.Arg702Pro) | |
| 3 | g.122284647G= | CA1397872827 | CASR | c.2462G= (p.Arg821=) c.2723G= (p.Arg908=) c.2693G= (p.Arg898=) c.2210G= (p.Arg737=) c.2105G= (p.Arg702=) | |
| 3 | g.122284647G>T | CA354160569 | CASR | c.2462G>T (p.Arg821Leu) c.2723G>T (p.Arg908Leu) c.2693G>T (p.Arg898Leu) c.2210G>T (p.Arg737Leu) c.2105G>T (p.Arg702Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284648G>A | CA435425479 | CASR | c.2463G>A (p.Arg821=) c.2724G>A (p.Arg908=) c.2694G>A (p.Arg898=) c.2211G>A (p.Arg737=) c.2106G>A (p.Arg702=) | |
| 3 | g.122284648G>C | CA435425480 | CASR | c.2463G>C (p.Arg821=) c.2724G>C (p.Arg908=) c.2694G>C (p.Arg898=) c.2211G>C (p.Arg737=) c.2106G>C (p.Arg702=) | |
| 3 | g.122284648G>T | CA435425481 | CASR | c.2463G>T (p.Arg821=) c.2724G>T (p.Arg908=) c.2694G>T (p.Arg898=) c.2211G>T (p.Arg737=) c.2106G>T (p.Arg702=) | ClinVar COSMIC |
| 3 | g.122284649T>A | CA354160570 | CASR | c.2464T>A (p.Ser822Thr) c.2725T>A (p.Ser909Thr) c.2695T>A (p.Ser899Thr) c.2212T>A (p.Ser738Thr) c.2107T>A (p.Ser703Thr) | |
| 3 | g.122284649T>C | CA2569850 | CASR | c.2464T>C (p.Ser822Pro) c.2725T>C (p.Ser909Pro) c.2695T>C (p.Ser899Pro) c.2212T>C (p.Ser738Pro) c.2107T>C (p.Ser703Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284649T>G | CA354160571 | CASR | c.2464T>G (p.Ser822Ala) c.2725T>G (p.Ser909Ala) c.2695T>G (p.Ser899Ala) c.2212T>G (p.Ser738Ala) c.2107T>G (p.Ser703Ala) | |
| 3 | g.122284649T= | CA1397872830 | CASR | c.2464T= (p.Ser822=) c.2725T= (p.Ser909=) c.2695T= (p.Ser899=) c.2212T= (p.Ser738=) c.2107T= (p.Ser703=) | |
| 3 | g.122284650C>A | CA354160573 | CASR | c.2465C>A (p.Ser822Tyr) c.2726C>A (p.Ser909Tyr) c.2696C>A (p.Ser899Tyr) c.2213C>A (p.Ser738Tyr) c.2108C>A (p.Ser703Tyr) | |
| 3 | g.122284650C>G | CA354160574 | CASR | c.2465C>G (p.Ser822Cys) c.2726C>G (p.Ser909Cys) c.2696C>G (p.Ser899Cys) c.2213C>G (p.Ser738Cys) c.2108C>G (p.Ser703Cys) | ClinVar dbSNP |
| 3 | g.122284650C>T | CA354160572 | CASR | c.2465C>T (p.Ser822Phe) c.2726C>T (p.Ser909Phe) c.2696C>T (p.Ser899Phe) c.2213C>T (p.Ser738Phe) c.2108C>T (p.Ser703Phe) | |
| 3 | g.122284651C>A | CA435425487 | CASR | c.2466C>A (p.Ser822=) c.2727C>A (p.Ser909=) c.2697C>A (p.Ser899=) c.2214C>A (p.Ser738=) c.2109C>A (p.Ser703=) | |
| 3 | g.122284651C>G | CA435425486 | CASR | c.2466C>G (p.Ser822=) c.2727C>G (p.Ser909=) c.2697C>G (p.Ser899=) c.2214C>G (p.Ser738=) c.2109C>G (p.Ser703=) | |
| 3 | g.122284651C>T | CA435425485 | CASR | c.2466C>T (p.Ser822=) c.2727C>T (p.Ser909=) c.2697C>T (p.Ser899=) c.2214C>T (p.Ser738=) c.2109C>T (p.Ser703=) | |
| 3 | g.122284652A>C | CA354160575 | CASR | c.2467A>C (p.Ser823Arg) c.2728A>C (p.Ser910Arg) c.2698A>C (p.Ser900Arg) c.2215A>C (p.Ser739Arg) c.2110A>C (p.Ser704Arg) | |
| 3 | g.122284652A>G | CA354160576 | CASR | c.2467A>G (p.Ser823Gly) c.2728A>G (p.Ser910Gly) c.2698A>G (p.Ser900Gly) c.2215A>G (p.Ser739Gly) c.2110A>G (p.Ser704Gly) | |
| 3 | g.122284652A>T | CA354160577 | CASR | c.2467A>T (p.Ser823Cys) c.2728A>T (p.Ser910Cys) c.2698A>T (p.Ser900Cys) c.2215A>T (p.Ser739Cys) c.2110A>T (p.Ser704Cys) | |
| 3 | g.122284653G>A | CA354160578 | CASR | c.2468G>A (p.Ser823Asn) c.2729G>A (p.Ser910Asn) c.2699G>A (p.Ser900Asn) c.2216G>A (p.Ser739Asn) c.2111G>A (p.Ser704Asn) | |
| 3 | g.122284653G>C | CA354160579 | CASR | c.2468G>C (p.Ser823Thr) c.2729G>C (p.Ser910Thr) c.2699G>C (p.Ser900Thr) c.2216G>C (p.Ser739Thr) c.2111G>C (p.Ser704Thr) | |
| 3 | g.122284653G>T | CA354160580 | CASR | c.2468G>T (p.Ser823Ile) c.2729G>T (p.Ser910Ile) c.2699G>T (p.Ser900Ile) c.2216G>T (p.Ser739Ile) c.2111G>T (p.Ser704Ile) | gnomAD v4 |
| 3 | g.122284654C>A | CA354160581 | CASR | c.2469C>A (p.Ser823Arg) c.2730C>A (p.Ser910Arg) c.2700C>A (p.Ser900Arg) c.2217C>A (p.Ser739Arg) c.2112C>A (p.Ser704Arg) | |
| 3 | g.122284654C>G | CA354160582 | CASR | c.2469C>G (p.Ser823Arg) c.2730C>G (p.Ser910Arg) c.2700C>G (p.Ser900Arg) c.2217C>G (p.Ser739Arg) c.2112C>G (p.Ser704Arg) | |
| 3 | g.122284654C>T | CA435425491 | CASR | c.2469C>T (p.Ser823=) c.2730C>T (p.Ser910=) c.2700C>T (p.Ser900=) c.2217C>T (p.Ser739=) c.2112C>T (p.Ser704=) | ClinVar gnomAD v4 |
| 3 | g.122284655A>C | CA354160583 | CASR | c.2470A>C (p.Ser824Arg) c.2731A>C (p.Ser911Arg) c.2701A>C (p.Ser901Arg) c.2218A>C (p.Ser740Arg) c.2113A>C (p.Ser705Arg) | |
| 3 | g.122284655A>G | CA354160584 | CASR | c.2470A>G (p.Ser824Gly) c.2731A>G (p.Ser911Gly) c.2701A>G (p.Ser901Gly) c.2218A>G (p.Ser740Gly) c.2113A>G (p.Ser705Gly) | gnomAD v4 |
| 3 | g.122284655A>T | CA354160585 | CASR | c.2470A>T (p.Ser824Cys) c.2731A>T (p.Ser911Cys) c.2701A>T (p.Ser901Cys) c.2218A>T (p.Ser740Cys) c.2113A>T (p.Ser705Cys) | |
| 3 | g.122284657_122284664del | CA2586972877 | CASR | c.2472_2479del (p.Ser824ArgfsTer?) c.2733_2740del (p.Ser911ArgfsTer?) c.2703_2710del (p.Ser901ArgfsTer?) c.2220_2227del (p.Ser740ArgfsTer?) c.2115_2122del (p.Ser705ArgfsTer?) | |
| 3 | g.122284656G>A | CA354160586 | CASR | c.2471G>A (p.Ser824Asn) c.2732G>A (p.Ser911Asn) c.2702G>A (p.Ser901Asn) c.2219G>A (p.Ser740Asn) c.2114G>A (p.Ser705Asn) | ClinVar |
| 3 | g.122284656G>C | CA354160587 | CASR | c.2471G>C (p.Ser824Thr) c.2732G>C (p.Ser911Thr) c.2702G>C (p.Ser901Thr) c.2219G>C (p.Ser740Thr) c.2114G>C (p.Ser705Thr) | |
| 3 | g.122284656G>T | CA354160588 | CASR | c.2471G>T (p.Ser824Ile) c.2732G>T (p.Ser911Ile) c.2702G>T (p.Ser901Ile) c.2219G>T (p.Ser740Ile) c.2114G>T (p.Ser705Ile) | |
| 3 | g.122284657C>A | CA354160589 | CASR | c.2472C>A (p.Ser824Arg) c.2733C>A (p.Ser911Arg) c.2703C>A (p.Ser901Arg) c.2220C>A (p.Ser740Arg) c.2115C>A (p.Ser705Arg) | |
| 3 | g.122284657C>G | CA354160590 | CASR | c.2472C>G (p.Ser824Arg) c.2733C>G (p.Ser911Arg) c.2703C>G (p.Ser901Arg) c.2220C>G (p.Ser740Arg) c.2115C>G (p.Ser705Arg) | |
| 3 | g.122284657C>T | CA435425493 | CASR | c.2472C>T (p.Ser824=) c.2733C>T (p.Ser911=) c.2703C>T (p.Ser901=) c.2220C>T (p.Ser740=) c.2115C>T (p.Ser705=) | |
| 3 | g.122284658C>A | CA354160591 | CASR | c.2473C>A (p.Leu825Ile) c.2734C>A (p.Leu912Ile) c.2704C>A (p.Leu902Ile) c.2221C>A (p.Leu741Ile) c.2116C>A (p.Leu706Ile) | |
| 3 | g.122284658C>G | CA354160592 | CASR | c.2473C>G (p.Leu825Val) c.2734C>G (p.Leu912Val) c.2704C>G (p.Leu902Val) c.2221C>G (p.Leu741Val) c.2116C>G (p.Leu706Val) | COSMIC |
| 3 | g.122284658C>T | CA354160593 | CASR | c.2473C>T (p.Leu825Phe) c.2734C>T (p.Leu912Phe) c.2704C>T (p.Leu902Phe) c.2221C>T (p.Leu741Phe) c.2116C>T (p.Leu706Phe) | ClinVar |
| 3 | g.122284659T>A | CA354160594 | CASR | c.2474T>A (p.Leu825His) c.2735T>A (p.Leu912His) c.2705T>A (p.Leu902His) c.2222T>A (p.Leu741His) c.2117T>A (p.Leu706His) | |
| 3 | g.122284659T>C | CA354160595 | CASR | c.2474T>C (p.Leu825Pro) c.2735T>C (p.Leu912Pro) c.2705T>C (p.Leu902Pro) c.2222T>C (p.Leu741Pro) c.2117T>C (p.Leu706Pro) | ClinVar |
| 3 | g.122284659T>G | CA354160596 | CASR | c.2474T>G (p.Leu825Arg) c.2735T>G (p.Leu912Arg) c.2705T>G (p.Leu902Arg) c.2222T>G (p.Leu741Arg) c.2117T>G (p.Leu706Arg) | |
| 3 | g.122284660T>A | CA435425494 | CASR | c.2475T>A (p.Leu825=) c.2736T>A (p.Leu912=) c.2706T>A (p.Leu902=) c.2223T>A (p.Leu741=) c.2118T>A (p.Leu706=) | |
| 3 | g.122284660T>C | CA435425495 | CASR | c.2475T>C (p.Leu825=) c.2736T>C (p.Leu912=) c.2706T>C (p.Leu902=) c.2223T>C (p.Leu741=) c.2118T>C (p.Leu706=) | |
| 3 | g.122284660T>G | CA435425496 | CASR | c.2475T>G (p.Leu825=) c.2736T>G (p.Leu912=) c.2706T>G (p.Leu902=) c.2223T>G (p.Leu741=) c.2118T>G (p.Leu706=) | |
| 3 | g.122284661G>A | CA354160597 | CASR | c.2476G>A (p.Gly826Arg) c.2737G>A (p.Gly913Arg) c.2707G>A (p.Gly903Arg) c.2224G>A (p.Gly742Arg) c.2119G>A (p.Gly707Arg) | COSMIC |
| 3 | g.122284661G>C | CA354160598 | CASR | c.2476G>C (p.Gly826Arg) c.2737G>C (p.Gly913Arg) c.2707G>C (p.Gly903Arg) c.2224G>C (p.Gly742Arg) c.2119G>C (p.Gly707Arg) | ClinVar |
| 3 | g.122284661G>T | CA354160599 | CASR | c.2476G>T (p.Gly826Ter) c.2737G>T (p.Gly913Ter) c.2707G>T (p.Gly903Ter) c.2224G>T (p.Gly742Ter) c.2119G>T (p.Gly707Ter) | |
| 3 | g.122284662G>A | CA354160600 | CASR | c.2477G>A (p.Gly826Glu) c.2738G>A (p.Gly913Glu) c.2708G>A (p.Gly903Glu) c.2225G>A (p.Gly742Glu) c.2120G>A (p.Gly707Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284662G>C | CA354160601 | CASR | c.2477G>C (p.Gly826Ala) c.2738G>C (p.Gly913Ala) c.2708G>C (p.Gly903Ala) c.2225G>C (p.Gly742Ala) c.2120G>C (p.Gly707Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284662G= | CA1397872831 | CASR | c.2477G= (p.Gly826=) c.2738G= (p.Gly913=) c.2708G= (p.Gly903=) c.2225G= (p.Gly742=) c.2120G= (p.Gly707=) | |
| 3 | g.122284662G>T | CA354160602 | CASR | c.2477G>T (p.Gly826Val) c.2738G>T (p.Gly913Val) c.2708G>T (p.Gly903Val) c.2225G>T (p.Gly742Val) c.2120G>T (p.Gly707Val) | |
| 3 | g.122284663A= | CA1397872833 | CASR | c.2478A= (p.Gly826=) c.2739A= (p.Gly913=) c.2709A= (p.Gly903=) c.2226A= (p.Gly742=) c.2121A= (p.Gly707=) | |
| 3 | g.122284663A>C | CA435425500 | CASR | c.2478A>C (p.Gly826=) c.2739A>C (p.Gly913=) c.2709A>C (p.Gly903=) c.2226A>C (p.Gly742=) c.2121A>C (p.Gly707=) | |
| 3 | g.122284663A>G | CA435425501 | CASR | c.2478A>G (p.Gly826=) c.2739A>G (p.Gly913=) c.2709A>G (p.Gly903=) c.2226A>G (p.Gly742=) c.2121A>G (p.Gly707=) | ClinVar dbSNP |
| 3 | g.122284663A>T | CA435425502 | CASR | c.2478A>T (p.Gly826=) c.2739A>T (p.Gly913=) c.2709A>T (p.Gly903=) c.2226A>T (p.Gly742=) c.2121A>T (p.Gly707=) | |
| 3 | g.122284664G>A | CA354160603 | CASR | c.2479G>A (p.Gly827Ser) c.2740G>A (p.Gly914Ser) c.2710G>A (p.Gly904Ser) c.2227G>A (p.Gly743Ser) c.2122G>A (p.Gly708Ser) | |
| 3 | g.122284664G>C | CA354160605 | CASR | c.2479G>C (p.Gly827Arg) c.2740G>C (p.Gly914Arg) c.2710G>C (p.Gly904Arg) c.2227G>C (p.Gly743Arg) c.2122G>C (p.Gly708Arg) | ClinVar dbSNP |
| 3 | g.122284664G= | CA1397872835 | CASR | c.2479G= (p.Gly827=) c.2740G= (p.Gly914=) c.2710G= (p.Gly904=) c.2227G= (p.Gly743=) c.2122G= (p.Gly708=) | |
| 3 | g.122284664G>T | CA354160604 | CASR | c.2479G>T (p.Gly827Cys) c.2740G>T (p.Gly914Cys) c.2710G>T (p.Gly904Cys) c.2227G>T (p.Gly743Cys) c.2122G>T (p.Gly708Cys) | |
| 3 | g.122284665G>A | CA354160606 | CASR | c.2480G>A (p.Gly827Asp) c.2741G>A (p.Gly914Asp) c.2711G>A (p.Gly904Asp) c.2228G>A (p.Gly743Asp) c.2123G>A (p.Gly708Asp) | dbSNP |
| 3 | g.122284665G>C | CA2569851 | CASR | c.2480G>C (p.Gly827Ala) c.2741G>C (p.Gly914Ala) c.2711G>C (p.Gly904Ala) c.2228G>C (p.Gly743Ala) c.2123G>C (p.Gly708Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284665G= | CA1397872836 | CASR | c.2480G= (p.Gly827=) c.2741G= (p.Gly914=) c.2711G= (p.Gly904=) c.2228G= (p.Gly743=) c.2123G= (p.Gly708=) | |
| 3 | g.122284665G>T | CA354160607 | CASR | c.2480G>T (p.Gly827Val) c.2741G>T (p.Gly914Val) c.2711G>T (p.Gly904Val) c.2228G>T (p.Gly743Val) c.2123G>T (p.Gly708Val) | |
| 3 | g.122284666C>A | CA435425505 | CASR | c.2481C>A (p.Gly827=) c.2742C>A (p.Gly914=) c.2712C>A (p.Gly904=) c.2229C>A (p.Gly743=) c.2124C>A (p.Gly708=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284666C= | CA1397872838 | CASR | c.2481C= (p.Gly827=) c.2742C= (p.Gly914=) c.2712C= (p.Gly904=) c.2229C= (p.Gly743=) c.2124C= (p.Gly708=) | |
| 3 | g.122284666C>G | CA435425506 | CASR | c.2481C>G (p.Gly827=) c.2742C>G (p.Gly914=) c.2712C>G (p.Gly904=) c.2229C>G (p.Gly743=) c.2124C>G (p.Gly708=) | |
| 3 | g.122284666C>T | CA82749183 | CASR | c.2481C>T (p.Gly827=) c.2742C>T (p.Gly914=) c.2712C>T (p.Gly904=) c.2229C>T (p.Gly743=) c.2124C>T (p.Gly708=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284667T>A | CA354160608 | CASR | c.2482T>A (p.Ser828Thr) c.2743T>A (p.Ser915Thr) c.2713T>A (p.Ser905Thr) c.2230T>A (p.Ser744Thr) c.2125T>A (p.Ser709Thr) | |
| 3 | g.122284667T>C | CA354160609 | CASR | c.2482T>C (p.Ser828Pro) c.2743T>C (p.Ser915Pro) c.2713T>C (p.Ser905Pro) c.2230T>C (p.Ser744Pro) c.2125T>C (p.Ser709Pro) | ClinVar dbSNP |
| 3 | g.122284667T>G | CA354160610 | CASR | c.2482T>G (p.Ser828Ala) c.2743T>G (p.Ser915Ala) c.2713T>G (p.Ser905Ala) c.2230T>G (p.Ser744Ala) c.2125T>G (p.Ser709Ala) | |
| 3 | g.122284668C>A | CA354160611 | CASR | c.2483C>A (p.Ser828Tyr) c.2744C>A (p.Ser915Tyr) c.2714C>A (p.Ser905Tyr) c.2231C>A (p.Ser744Tyr) c.2126C>A (p.Ser709Tyr) | |
| 3 | g.122284668C= | CA1397872839 | CASR | c.2483C= (p.Ser828=) c.2744C= (p.Ser915=) c.2714C= (p.Ser905=) c.2231C= (p.Ser744=) c.2126C= (p.Ser709=) | |
| 3 | g.122284668C>G | CA354160612 | CASR | c.2483C>G (p.Ser828Cys) c.2744C>G (p.Ser915Cys) c.2714C>G (p.Ser905Cys) c.2231C>G (p.Ser744Cys) c.2126C>G (p.Ser709Cys) | |
| 3 | g.122284668C>T | CA354160613 | CASR | c.2483C>T (p.Ser828Phe) c.2744C>T (p.Ser915Phe) c.2714C>T (p.Ser905Phe) c.2231C>T (p.Ser744Phe) c.2126C>T (p.Ser709Phe) | ClinVar dbSNP |
| 3 | g.122284669C>A | CA435425509 | CASR | c.2484C>A (p.Ser828=) c.2745C>A (p.Ser915=) c.2715C>A (p.Ser905=) c.2232C>A (p.Ser744=) c.2127C>A (p.Ser709=) | |
| 3 | g.122284669C>G | CA435425510 | CASR | c.2484C>G (p.Ser828=) c.2745C>G (p.Ser915=) c.2715C>G (p.Ser905=) c.2232C>G (p.Ser744=) c.2127C>G (p.Ser709=) | |
| 3 | g.122284669C>T | CA435425512 | CASR | c.2484C>T (p.Ser828=) c.2745C>T (p.Ser915=) c.2715C>T (p.Ser905=) c.2232C>T (p.Ser744=) c.2127C>T (p.Ser709=) | ClinVar |
| 3 | g.122284670A>C | CA354160614 | CASR | c.2485A>C (p.Thr829Pro) c.2746A>C (p.Thr916Pro) c.2716A>C (p.Thr906Pro) c.2233A>C (p.Thr745Pro) c.2128A>C (p.Thr710Pro) | |
| 3 | g.122284670A>G | CA354160615 | CASR | c.2485A>G (p.Thr829Ala) c.2746A>G (p.Thr916Ala) c.2716A>G (p.Thr906Ala) c.2233A>G (p.Thr745Ala) c.2128A>G (p.Thr710Ala) | |
| 3 | g.122284670A>T | CA354160616 | CASR | c.2485A>T (p.Thr829Ser) c.2746A>T (p.Thr916Ser) c.2716A>T (p.Thr906Ser) c.2233A>T (p.Thr745Ser) c.2128A>T (p.Thr710Ser) | |
| 3 | g.122284671C>A | CA354160617 | CASR | c.2486C>A (p.Thr829Lys) c.2747C>A (p.Thr916Lys) c.2717C>A (p.Thr906Lys) c.2234C>A (p.Thr745Lys) c.2129C>A (p.Thr710Lys) | ClinVar dbSNP |
| 3 | g.122284671C= | CA1397872843 | CASR | c.2486C= (p.Thr829=) c.2747C= (p.Thr916=) c.2717C= (p.Thr906=) c.2234C= (p.Thr745=) c.2129C= (p.Thr710=) | |
| 3 | g.122284671C>G | CA354160618 | CASR | c.2486C>G (p.Thr829Arg) c.2747C>G (p.Thr916Arg) c.2717C>G (p.Thr906Arg) c.2234C>G (p.Thr745Arg) c.2129C>G (p.Thr710Arg) | |
| 3 | g.122284671C>T | CA82749186 | CASR | c.2486C>T (p.Thr829Met) c.2747C>T (p.Thr916Met) c.2717C>T (p.Thr906Met) c.2234C>T (p.Thr745Met) c.2129C>T (p.Thr710Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284672G>A | CA435425518 | CASR | c.2487G>A (p.Thr829=) c.2748G>A (p.Thr916=) c.2718G>A (p.Thr906=) c.2235G>A (p.Thr745=) c.2130G>A (p.Thr710=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284672G>C | CA435425520 | CASR | c.2487G>C (p.Thr829=) c.2748G>C (p.Thr916=) c.2718G>C (p.Thr906=) c.2235G>C (p.Thr745=) c.2130G>C (p.Thr710=) | |
| 3 | g.122284672G= | CA1397872845 | CASR | c.2487G= (p.Thr829=) c.2748G= (p.Thr916=) c.2718G= (p.Thr906=) c.2235G= (p.Thr745=) c.2130G= (p.Thr710=) | |
| 3 | g.122284672G>T | CA435425519 | CASR | c.2487G>T (p.Thr829=) c.2748G>T (p.Thr916=) c.2718G>T (p.Thr906=) c.2235G>T (p.Thr745=) c.2130G>T (p.Thr710=) | ClinVar dbSNP |
| 3 | g.122284673G>A | CA354160619 | CASR | c.2488G>A (p.Gly830Arg) c.2749G>A (p.Gly917Arg) c.2719G>A (p.Gly907Arg) c.2236G>A (p.Gly746Arg) c.2131G>A (p.Gly711Arg) | |
| 3 | g.122284673G>C | CA354160621 | CASR | c.2488G>C (p.Gly830Arg) c.2749G>C (p.Gly917Arg) c.2719G>C (p.Gly907Arg) c.2236G>C (p.Gly746Arg) c.2131G>C (p.Gly711Arg) | |
| 3 | g.122284673G>T | CA354160620 | CASR | c.2488G>T (p.Gly830Ter) c.2749G>T (p.Gly917Ter) c.2719G>T (p.Gly907Ter) c.2236G>T (p.Gly746Ter) c.2131G>T (p.Gly711Ter) | |
| 3 | g.122284674G>A | CA354160622 | CASR | c.2489G>A (p.Gly830Glu) c.2750G>A (p.Gly917Glu) c.2720G>A (p.Gly907Glu) c.2237G>A (p.Gly746Glu) c.2132G>A (p.Gly711Glu) | gnomAD v4 COSMIC |
| 3 | g.122284674G>C | CA2569852 | CASR | c.2489G>C (p.Gly830Ala) c.2750G>C (p.Gly917Ala) c.2720G>C (p.Gly907Ala) c.2237G>C (p.Gly746Ala) c.2132G>C (p.Gly711Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284674G= | CA1397872846 | CASR | c.2489G= (p.Gly830=) c.2750G= (p.Gly917=) c.2720G= (p.Gly907=) c.2237G= (p.Gly746=) c.2132G= (p.Gly711=) | |
| 3 | g.122284674G>T | CA354160623 | CASR | c.2489G>T (p.Gly830Val) c.2750G>T (p.Gly917Val) c.2720G>T (p.Gly907Val) c.2237G>T (p.Gly746Val) c.2132G>T (p.Gly711Val) | |
| 3 | g.122284675A>C | CA435425522 | CASR | c.2490A>C (p.Gly830=) c.2751A>C (p.Gly917=) c.2721A>C (p.Gly907=) c.2238A>C (p.Gly746=) c.2133A>C (p.Gly711=) | |
| 3 | g.122284675A>G | CA435425524 | CASR | c.2490A>G (p.Gly830=) c.2751A>G (p.Gly917=) c.2721A>G (p.Gly907=) c.2238A>G (p.Gly746=) c.2133A>G (p.Gly711=) | |
| 3 | g.122284675A>T | CA435425526 | CASR | c.2490A>T (p.Gly830=) c.2751A>T (p.Gly917=) c.2721A>T (p.Gly907=) c.2238A>T (p.Gly746=) c.2133A>T (p.Gly711=) | |
| 3 | g.122284676T>A | CA354160624 | CASR | c.2491T>A (p.Ser831Thr) c.2752T>A (p.Ser918Thr) c.2722T>A (p.Ser908Thr) c.2239T>A (p.Ser747Thr) c.2134T>A (p.Ser712Thr) | |
| 3 | g.122284676T>C | CA354160625 | CASR | c.2491T>C (p.Ser831Pro) c.2752T>C (p.Ser918Pro) c.2722T>C (p.Ser908Pro) c.2239T>C (p.Ser747Pro) c.2134T>C (p.Ser712Pro) | |
| 3 | g.122284676T>G | CA354160626 | CASR | c.2491T>G (p.Ser831Ala) c.2752T>G (p.Ser918Ala) c.2722T>G (p.Ser908Ala) c.2239T>G (p.Ser747Ala) c.2134T>G (p.Ser712Ala) | |
| 3 | g.122284677C>A | CA2569853 | CASR | c.2492C>A (p.Ser831Tyr) c.2753C>A (p.Ser918Tyr) c.2723C>A (p.Ser908Tyr) c.2240C>A (p.Ser747Tyr) c.2135C>A (p.Ser712Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284677C= | CA1397872848 | CASR | c.2492C= (p.Ser831=) c.2753C= (p.Ser918=) c.2723C= (p.Ser908=) c.2240C= (p.Ser747=) c.2135C= (p.Ser712=) | |
| 3 | g.122284677C>G | CA354160627 | CASR | c.2492C>G (p.Ser831Cys) c.2753C>G (p.Ser918Cys) c.2723C>G (p.Ser908Cys) c.2240C>G (p.Ser747Cys) c.2135C>G (p.Ser712Cys) | |
| 3 | g.122284677C>T | CA354160628 | CASR | c.2492C>T (p.Ser831Phe) c.2753C>T (p.Ser918Phe) c.2723C>T (p.Ser908Phe) c.2240C>T (p.Ser747Phe) c.2135C>T (p.Ser712Phe) | |
| 3 | g.122284678C>A | CA435425368 | CASR | c.2493C>A (p.Ser831=) c.2754C>A (p.Ser918=) c.2724C>A (p.Ser908=) c.2241C>A (p.Ser747=) c.2136C>A (p.Ser712=) | |
| 3 | g.122284678C>G | CA435425369 | CASR | c.2493C>G (p.Ser831=) c.2754C>G (p.Ser918=) c.2724C>G (p.Ser908=) c.2241C>G (p.Ser747=) c.2136C>G (p.Ser712=) | |
| 3 | g.122284678C>T | CA435425370 | CASR | c.2493C>T (p.Ser831=) c.2754C>T (p.Ser918=) c.2724C>T (p.Ser908=) c.2241C>T (p.Ser747=) c.2136C>T (p.Ser712=) | |
| 3 | g.122284679A= | CA1397872849 | CASR | c.2494A= (p.Thr832=) c.2755A= (p.Thr919=) c.2725A= (p.Thr909=) c.2242A= (p.Thr748=) c.2137A= (p.Thr713=) | |
| 3 | g.122284679A>C | CA354160630 | CASR | c.2494A>C (p.Thr832Pro) c.2755A>C (p.Thr919Pro) c.2725A>C (p.Thr909Pro) c.2242A>C (p.Thr748Pro) c.2137A>C (p.Thr713Pro) | |
| 3 | g.122284679A>G | CA354160631 | CASR | c.2494A>G (p.Thr832Ala) c.2755A>G (p.Thr919Ala) c.2725A>G (p.Thr909Ala) c.2242A>G (p.Thr748Ala) c.2137A>G (p.Thr713Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284679A>T | CA354160629 | CASR | c.2494A>T (p.Thr832Ser) c.2755A>T (p.Thr919Ser) c.2725A>T (p.Thr909Ser) c.2242A>T (p.Thr748Ser) c.2137A>T (p.Thr713Ser) | |
| 3 | g.122284680C>A | CA354160632 | CASR | c.2495C>A (p.Thr832Asn) c.2756C>A (p.Thr919Asn) c.2726C>A (p.Thr909Asn) c.2243C>A (p.Thr748Asn) c.2138C>A (p.Thr713Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284680C= | CA1397872851 | CASR | c.2495C= (p.Thr832=) c.2756C= (p.Thr919=) c.2726C= (p.Thr909=) c.2243C= (p.Thr748=) c.2138C= (p.Thr713=) | |
| 3 | g.122284680C>G | CA82749192 | CASR | c.2495C>G (p.Thr832Ser) c.2756C>G (p.Thr919Ser) c.2726C>G (p.Thr909Ser) c.2243C>G (p.Thr748Ser) c.2138C>G (p.Thr713Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284680C>T | CA354160633 | CASR | c.2495C>T (p.Thr832Ile) c.2756C>T (p.Thr919Ile) c.2726C>T (p.Thr909Ile) c.2243C>T (p.Thr748Ile) c.2138C>T (p.Thr713Ile) | ClinVar |
| 3 | g.122284684del | CA435425371 | CASR | c.2499del (p.Ser834ProfsTer28) c.2760del (p.Ser921ProfsTer28) c.2730del (p.Ser911ProfsTer28) c.2247del (p.Ser750ProfsTer28) c.2142del (p.Ser715ProfsTer28) | COSMIC |
| 3 | g.122284681C>A | CA435425372 | CASR | c.2496C>A (p.Thr832=) c.2757C>A (p.Thr919=) c.2727C>A (p.Thr909=) c.2244C>A (p.Thr748=) c.2139C>A (p.Thr713=) | ClinVar |
| 3 | g.122284681C= | CA1397872854 | CASR | c.2496C= (p.Thr832=) c.2757C= (p.Thr919=) c.2727C= (p.Thr909=) c.2244C= (p.Thr748=) c.2139C= (p.Thr713=) | |
| 3 | g.122284681C>G | CA435425373 | CASR | c.2496C>G (p.Thr832=) c.2757C>G (p.Thr919=) c.2727C>G (p.Thr909=) c.2244C>G (p.Thr748=) c.2139C>G (p.Thr713=) | ClinVar gnomAD v4 |
| 3 | g.122284681C>T | CA435425374 | CASR | c.2496C>T (p.Thr832=) c.2757C>T (p.Thr919=) c.2727C>T (p.Thr909=) c.2244C>T (p.Thr748=) c.2139C>T (p.Thr713=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284682C>A | CA354160634 | CASR | c.2497C>A (p.Pro833Thr) c.2758C>A (p.Pro920Thr) c.2728C>A (p.Pro910Thr) c.2245C>A (p.Pro749Thr) c.2140C>A (p.Pro714Thr) | COSMIC |
| 3 | g.122284682C>G | CA354160635 | CASR | c.2497C>G (p.Pro833Ala) c.2758C>G (p.Pro920Ala) c.2728C>G (p.Pro910Ala) c.2245C>G (p.Pro749Ala) c.2140C>G (p.Pro714Ala) | |
| 3 | g.122284682C>T | CA354160636 | CASR | c.2497C>T (p.Pro833Ser) c.2758C>T (p.Pro920Ser) c.2728C>T (p.Pro910Ser) c.2245C>T (p.Pro749Ser) c.2140C>T (p.Pro714Ser) | |
| 3 | g.122284683C>A | CA354160637 | CASR | c.2498C>A (p.Pro833His) c.2759C>A (p.Pro920His) c.2729C>A (p.Pro910His) c.2246C>A (p.Pro749His) c.2141C>A (p.Pro714His) | ClinVar gnomAD v4 |
| 3 | g.122284683C= | CA1397872856 | CASR | c.2498C= (p.Pro833=) c.2759C= (p.Pro920=) c.2729C= (p.Pro910=) c.2246C= (p.Pro749=) c.2141C= (p.Pro714=) | |
| 3 | g.122284683C>G | CA354160638 | CASR | c.2498C>G (p.Pro833Arg) c.2759C>G (p.Pro920Arg) c.2729C>G (p.Pro910Arg) c.2246C>G (p.Pro749Arg) c.2141C>G (p.Pro714Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284683C>T | CA354160639 | CASR | c.2498C>T (p.Pro833Leu) c.2759C>T (p.Pro920Leu) c.2729C>T (p.Pro910Leu) c.2246C>T (p.Pro749Leu) c.2141C>T (p.Pro714Leu) | |
| 3 | g.122284691_122284693dup | CA2580616518 | CASR | c.2506_2508dup (p.Ser836_Ile837insSer) c.2767_2769dup (p.Ser923_Ile924insSer) c.2737_2739dup (p.Ser913_Ile914insSer) c.2254_2256dup (p.Ser752_Ile753insSer) c.2149_2151dup (p.Ser717_Ile718insSer) | ClinVar |
| 3 | g.122284691_122284693del | CA2667224707 | CASR | c.2506_2508del (p.Ser836del) c.2767_2769del (p.Ser923del) c.2737_2739del (p.Ser913del) c.2254_2256del (p.Ser752del) c.2149_2151del (p.Ser717del) | gnomAD v4 |
| 3 | g.122284684C>A | CA203221 | CASR | c.2499C>A (p.Pro833=) c.2760C>A (p.Pro920=) c.2730C>A (p.Pro910=) c.2247C>A (p.Pro749=) c.2142C>A (p.Pro714=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284684C= | CA1397872858 | CASR | c.2499C= (p.Pro833=) c.2760C= (p.Pro920=) c.2730C= (p.Pro910=) c.2247C= (p.Pro749=) c.2142C= (p.Pro714=) | |
| 3 | g.122284684C>G | CA435425376 | CASR | c.2499C>G (p.Pro833=) c.2760C>G (p.Pro920=) c.2730C>G (p.Pro910=) c.2247C>G (p.Pro749=) c.2142C>G (p.Pro714=) | dbSNP |
| 3 | g.122284684C>T | CA82749193 | CASR | c.2499C>T (p.Pro833=) c.2760C>T (p.Pro920=) c.2730C>T (p.Pro910=) c.2247C>T (p.Pro749=) c.2142C>T (p.Pro714=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284685T>A | CA354160640 | CASR | c.2500T>A (p.Ser834Thr) c.2761T>A (p.Ser921Thr) c.2731T>A (p.Ser911Thr) c.2248T>A (p.Ser750Thr) c.2143T>A (p.Ser715Thr) | |
| 3 | g.122284685T>C | CA354160641 | CASR | c.2500T>C (p.Ser834Pro) c.2761T>C (p.Ser921Pro) c.2731T>C (p.Ser911Pro) c.2248T>C (p.Ser750Pro) c.2143T>C (p.Ser715Pro) | |
| 3 | g.122284685T>G | CA354160642 | CASR | c.2500T>G (p.Ser834Ala) c.2761T>G (p.Ser921Ala) c.2731T>G (p.Ser911Ala) c.2248T>G (p.Ser750Ala) c.2143T>G (p.Ser715Ala) | |
| 3 | g.122284686C>A | CA354160645 | CASR | c.2501C>A (p.Ser834Tyr) c.2762C>A (p.Ser921Tyr) c.2732C>A (p.Ser911Tyr) c.2249C>A (p.Ser750Tyr) c.2144C>A (p.Ser715Tyr) | |
| 3 | g.122284686C>G | CA354160644 | CASR | c.2501C>G (p.Ser834Cys) c.2762C>G (p.Ser921Cys) c.2732C>G (p.Ser911Cys) c.2249C>G (p.Ser750Cys) c.2144C>G (p.Ser715Cys) | |
| 3 | g.122284686C>T | CA354160643 | CASR | c.2501C>T (p.Ser834Phe) c.2762C>T (p.Ser921Phe) c.2732C>T (p.Ser911Phe) c.2249C>T (p.Ser750Phe) c.2144C>T (p.Ser715Phe) | |
| 3 | g.122284687C>A | CA435425380 | CASR | c.2502C>A (p.Ser834=) c.2763C>A (p.Ser921=) c.2733C>A (p.Ser911=) c.2250C>A (p.Ser750=) c.2145C>A (p.Ser715=) | |
| 3 | g.122284687C>G | CA435425381 | CASR | c.2502C>G (p.Ser834=) c.2763C>G (p.Ser921=) c.2733C>G (p.Ser911=) c.2250C>G (p.Ser750=) c.2145C>G (p.Ser715=) | |
| 3 | g.122284687C>T | CA435425382 | CASR | c.2502C>T (p.Ser834=) c.2763C>T (p.Ser921=) c.2733C>T (p.Ser911=) c.2250C>T (p.Ser750=) c.2145C>T (p.Ser715=) | |
| 3 | g.122284688T>A | CA354160646 | CASR | c.2503T>A (p.Ser835Thr) c.2764T>A (p.Ser922Thr) c.2734T>A (p.Ser912Thr) c.2251T>A (p.Ser751Thr) c.2146T>A (p.Ser716Thr) | |
| 3 | g.122284688T>C | CA354160647 | CASR | c.2503T>C (p.Ser835Pro) c.2764T>C (p.Ser922Pro) c.2734T>C (p.Ser912Pro) c.2251T>C (p.Ser751Pro) c.2146T>C (p.Ser716Pro) | |
| 3 | g.122284688T>G | CA354160648 | CASR | c.2503T>G (p.Ser835Ala) c.2764T>G (p.Ser922Ala) c.2734T>G (p.Ser912Ala) c.2251T>G (p.Ser751Ala) c.2146T>G (p.Ser716Ala) | |
| 3 | g.122284689C>A | CA354160649 | CASR | c.2504C>A (p.Ser835Tyr) c.2765C>A (p.Ser922Tyr) c.2735C>A (p.Ser912Tyr) c.2252C>A (p.Ser751Tyr) c.2147C>A (p.Ser716Tyr) | |
| 3 | g.122284689C= | CA1397872861 | CASR | c.2504C= (p.Ser835=) c.2765C= (p.Ser922=) c.2735C= (p.Ser912=) c.2252C= (p.Ser751=) c.2147C= (p.Ser716=) | |
| 3 | g.122284689C>G | CA354160650 | CASR | c.2504C>G (p.Ser835Cys) c.2765C>G (p.Ser922Cys) c.2735C>G (p.Ser912Cys) c.2252C>G (p.Ser751Cys) c.2147C>G (p.Ser716Cys) | |
| 3 | g.122284689C>T | CA354160651 | CASR | c.2504C>T (p.Ser835Phe) c.2765C>T (p.Ser922Phe) c.2735C>T (p.Ser912Phe) c.2252C>T (p.Ser751Phe) c.2147C>T (p.Ser716Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284690C>A | CA435425386 | CASR | c.2505C>A (p.Ser835=) c.2766C>A (p.Ser922=) c.2736C>A (p.Ser912=) c.2253C>A (p.Ser751=) c.2148C>A (p.Ser716=) | |
| 3 | g.122284690C= | CA1397872863 | CASR | c.2505C= (p.Ser835=) c.2766C= (p.Ser922=) c.2736C= (p.Ser912=) c.2253C= (p.Ser751=) c.2148C= (p.Ser716=) | |
| 3 | g.122284690C>G | CA435425387 | CASR | c.2505C>G (p.Ser835=) c.2766C>G (p.Ser922=) c.2736C>G (p.Ser912=) c.2253C>G (p.Ser751=) c.2148C>G (p.Ser716=) | |
| 3 | g.122284690C>T | CA2569854 | CASR | c.2505C>T (p.Ser835=) c.2766C>T (p.Ser922=) c.2736C>T (p.Ser912=) c.2253C>T (p.Ser751=) c.2148C>T (p.Ser716=) | ClinVar dbSNP ExAC gnomAD v4 |
| 3 | g.122284691T>A | CA354160652 | CASR | c.2506T>A (p.Ser836Thr) c.2767T>A (p.Ser923Thr) c.2737T>A (p.Ser913Thr) c.2254T>A (p.Ser752Thr) c.2149T>A (p.Ser717Thr) | |
| 3 | g.122284691T>C | CA354160653 | CASR | c.2506T>C (p.Ser836Pro) c.2767T>C (p.Ser923Pro) c.2737T>C (p.Ser913Pro) c.2254T>C (p.Ser752Pro) c.2149T>C (p.Ser717Pro) | |
| 3 | g.122284691T>G | CA354160654 | CASR | c.2506T>G (p.Ser836Ala) c.2767T>G (p.Ser923Ala) c.2737T>G (p.Ser913Ala) c.2254T>G (p.Ser752Ala) c.2149T>G (p.Ser717Ala) | |
| 3 | g.122284692C>A | CA354160655 | CASR | c.2507C>A (p.Ser836Tyr) c.2768C>A (p.Ser923Tyr) c.2738C>A (p.Ser913Tyr) c.2255C>A (p.Ser752Tyr) c.2150C>A (p.Ser717Tyr) | |
| 3 | g.122284692C= | CA1397872864 | CASR | c.2507C= (p.Ser836=) c.2768C= (p.Ser923=) c.2738C= (p.Ser913=) c.2255C= (p.Ser752=) c.2150C= (p.Ser717=) | |
| 3 | g.122284692C>G | CA354160656 | CASR | c.2507C>G (p.Ser836Cys) c.2768C>G (p.Ser923Cys) c.2738C>G (p.Ser913Cys) c.2255C>G (p.Ser752Cys) c.2150C>G (p.Ser717Cys) | |
| 3 | g.122284692C>T | CA2569855 | CASR | c.2507C>T (p.Ser836Phe) c.2768C>T (p.Ser923Phe) c.2738C>T (p.Ser913Phe) c.2255C>T (p.Ser752Phe) c.2150C>T (p.Ser717Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284693C>A | CA435425391 | CASR | c.2508C>A (p.Ser836=) c.2769C>A (p.Ser923=) c.2739C>A (p.Ser913=) c.2256C>A (p.Ser752=) c.2151C>A (p.Ser717=) | ClinVar dbSNP |
| 3 | g.122284693C= | CA1397872866 | CASR | c.2508C= (p.Ser836=) c.2769C= (p.Ser923=) c.2739C= (p.Ser913=) c.2256C= (p.Ser752=) c.2151C= (p.Ser717=) | |
| 3 | g.122284693C>G | CA435425390 | CASR | c.2508C>G (p.Ser836=) c.2769C>G (p.Ser923=) c.2739C>G (p.Ser913=) c.2256C>G (p.Ser752=) c.2151C>G (p.Ser717=) | |
| 3 | g.122284693C>T | CA435425389 | CASR | c.2508C>T (p.Ser836=) c.2769C>T (p.Ser923=) c.2739C>T (p.Ser913=) c.2256C>T (p.Ser752=) c.2151C>T (p.Ser717=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284694A>C | CA354160658 | CASR | c.2509A>C (p.Ile837Leu) c.2770A>C (p.Ile924Leu) c.2740A>C (p.Ile914Leu) c.2257A>C (p.Ile753Leu) c.2152A>C (p.Ile718Leu) | |
| 3 | g.122284694A>G | CA354160659 | CASR | c.2509A>G (p.Ile837Val) c.2770A>G (p.Ile924Val) c.2740A>G (p.Ile914Val) c.2257A>G (p.Ile753Val) c.2152A>G (p.Ile718Val) | |
| 3 | g.122284694A>T | CA354160657 | CASR | c.2509A>T (p.Ile837Phe) c.2770A>T (p.Ile924Phe) c.2740A>T (p.Ile914Phe) c.2257A>T (p.Ile753Phe) c.2152A>T (p.Ile718Phe) | |
| 3 | g.122284695T>A | CA354160661 | CASR | c.2510T>A (p.Ile837Asn) c.2771T>A (p.Ile924Asn) c.2741T>A (p.Ile914Asn) c.2258T>A (p.Ile753Asn) c.2153T>A (p.Ile718Asn) | ClinVar gnomAD v4 |
| 3 | g.122284695T>C | CA354160660 | CASR | c.2510T>C (p.Ile837Thr) c.2771T>C (p.Ile924Thr) c.2741T>C (p.Ile914Thr) c.2258T>C (p.Ile753Thr) c.2153T>C (p.Ile718Thr) | ClinVar dbSNP |
| 3 | g.122284695T>G | CA354160662 | CASR | c.2510T>G (p.Ile837Ser) c.2771T>G (p.Ile924Ser) c.2741T>G (p.Ile914Ser) c.2258T>G (p.Ile753Ser) c.2153T>G (p.Ile718Ser) | |
| 3 | g.122284695T= | CA1397872867 | CASR | c.2510T= (p.Ile837=) c.2771T= (p.Ile924=) c.2741T= (p.Ile914=) c.2258T= (p.Ile753=) c.2153T= (p.Ile718=) | |
| 3 | g.122284696C>A | CA435425393 | CASR | c.2511C>A (p.Ile837=) c.2772C>A (p.Ile924=) c.2742C>A (p.Ile914=) c.2259C>A (p.Ile753=) c.2154C>A (p.Ile718=) | |
| 3 | g.122284696C= | CA1397872869 | CASR | c.2511C= (p.Ile837=) c.2772C= (p.Ile924=) c.2742C= (p.Ile914=) c.2259C= (p.Ile753=) c.2154C= (p.Ile718=) | |
| 3 | g.122284696C>G | CA354160663 | CASR | c.2511C>G (p.Ile837Met) c.2772C>G (p.Ile924Met) c.2742C>G (p.Ile914Met) c.2259C>G (p.Ile753Met) c.2154C>G (p.Ile718Met) | |
| 3 | g.122284696C>T | CA2569856 | CASR | c.2511C>T (p.Ile837=) c.2772C>T (p.Ile924=) c.2742C>T (p.Ile914=) c.2259C>T (p.Ile753=) c.2154C>T (p.Ile718=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284701_122284703dup | CA2740094576 | CASR | c.2516_2518dup (p.Ser839_Lys840insSer) c.2777_2779dup (p.Ser926_Lys927insSer) c.2747_2749dup (p.Ser916_Lys917insSer) c.2264_2266dup (p.Ser755_Lys756insSer) c.2159_2161dup (p.Ser720_Lys721insSer) | ClinVar |
| 3 | g.122284697A= | CA1397872871 | CASR | c.2512A= (p.Ser838=) c.2773A= (p.Ser925=) c.2743A= (p.Ser915=) c.2260A= (p.Ser754=) c.2155A= (p.Ser719=) | |
| 3 | g.122284697A>C | CA354160664 | CASR | c.2512A>C (p.Ser838Arg) c.2773A>C (p.Ser925Arg) c.2743A>C (p.Ser915Arg) c.2260A>C (p.Ser754Arg) c.2155A>C (p.Ser719Arg) | |
| 3 | g.122284697A>G | CA354160666 | CASR | c.2512A>G (p.Ser838Gly) c.2773A>G (p.Ser925Gly) c.2743A>G (p.Ser915Gly) c.2260A>G (p.Ser754Gly) c.2155A>G (p.Ser719Gly) | dbSNP |
| 3 | g.122284697A>T | CA354160665 | CASR | c.2512A>T (p.Ser838Cys) c.2773A>T (p.Ser925Cys) c.2743A>T (p.Ser915Cys) c.2260A>T (p.Ser754Cys) c.2155A>T (p.Ser719Cys) | |
| 3 | g.122284698G>A | CA354160667 | CASR | c.2513G>A (p.Ser838Asn) c.2774G>A (p.Ser925Asn) c.2744G>A (p.Ser915Asn) c.2261G>A (p.Ser754Asn) c.2156G>A (p.Ser719Asn) | |
| 3 | g.122284698G>C | CA354160668 | CASR | c.2513G>C (p.Ser838Thr) c.2774G>C (p.Ser925Thr) c.2744G>C (p.Ser915Thr) c.2261G>C (p.Ser754Thr) c.2156G>C (p.Ser719Thr) | ClinVar dbSNP |
| 3 | g.122284698G>T | CA354160669 | CASR | c.2513G>T (p.Ser838Ile) c.2774G>T (p.Ser925Ile) c.2744G>T (p.Ser915Ile) c.2261G>T (p.Ser754Ile) c.2156G>T (p.Ser719Ile) | |
| 3 | g.122284699C>A | CA354160670 | CASR | c.2514C>A (p.Ser838Arg) c.2775C>A (p.Ser925Arg) c.2745C>A (p.Ser915Arg) c.2262C>A (p.Ser754Arg) c.2157C>A (p.Ser719Arg) | |
| 3 | g.122284699C>G | CA354160671 | CASR | c.2514C>G (p.Ser838Arg) c.2775C>G (p.Ser925Arg) c.2745C>G (p.Ser915Arg) c.2262C>G (p.Ser754Arg) c.2157C>G (p.Ser719Arg) | |
| 3 | g.122284699C>T | CA435425396 | CASR | c.2514C>T (p.Ser838=) c.2775C>T (p.Ser925=) c.2745C>T (p.Ser915=) c.2262C>T (p.Ser754=) c.2157C>T (p.Ser719=) | gnomAD v4 |
| 3 | g.122284700A>C | CA354160672 | CASR | c.2515A>C (p.Ser839Arg) c.2776A>C (p.Ser926Arg) c.2746A>C (p.Ser916Arg) c.2263A>C (p.Ser755Arg) c.2158A>C (p.Ser720Arg) | |
| 3 | g.122284700A>G | CA354160673 | CASR | c.2515A>G (p.Ser839Gly) c.2776A>G (p.Ser926Gly) c.2746A>G (p.Ser916Gly) c.2263A>G (p.Ser755Gly) c.2158A>G (p.Ser720Gly) | |
| 3 | g.122284700A>T | CA354160674 | CASR | c.2515A>T (p.Ser839Cys) c.2776A>T (p.Ser926Cys) c.2746A>T (p.Ser916Cys) c.2263A>T (p.Ser755Cys) c.2158A>T (p.Ser720Cys) | |
| 3 | g.122284701G>A | CA354160675 | CASR | c.2516G>A (p.Ser839Asn) c.2777G>A (p.Ser926Asn) c.2747G>A (p.Ser916Asn) c.2264G>A (p.Ser755Asn) c.2159G>A (p.Ser720Asn) | |
| 3 | g.122284701G>C | CA354160676 | CASR | c.2516G>C (p.Ser839Thr) c.2777G>C (p.Ser926Thr) c.2747G>C (p.Ser916Thr) c.2264G>C (p.Ser755Thr) c.2159G>C (p.Ser720Thr) | |
| 3 | g.122284701G>T | CA354160677 | CASR | c.2516G>T (p.Ser839Ile) c.2777G>T (p.Ser926Ile) c.2747G>T (p.Ser916Ile) c.2264G>T (p.Ser755Ile) c.2159G>T (p.Ser720Ile) | |
| 3 | g.122284702C>A | CA354160679 | CASR | c.2517C>A (p.Ser839Arg) c.2778C>A (p.Ser926Arg) c.2748C>A (p.Ser916Arg) c.2265C>A (p.Ser755Arg) c.2160C>A (p.Ser720Arg) | |
| 3 | g.122284702C>G | CA354160678 | CASR | c.2517C>G (p.Ser839Arg) c.2778C>G (p.Ser926Arg) c.2748C>G (p.Ser916Arg) c.2265C>G (p.Ser755Arg) c.2160C>G (p.Ser720Arg) | |
| 3 | g.122284702C>T | CA435425400 | CASR | c.2517C>T (p.Ser839=) c.2778C>T (p.Ser926=) c.2748C>T (p.Ser916=) c.2265C>T (p.Ser755=) c.2160C>T (p.Ser720=) | |
| 3 | g.122284703A>C | CA354160680 | CASR | c.2518A>C (p.Lys840Gln) c.2779A>C (p.Lys927Gln) c.2749A>C (p.Lys917Gln) c.2266A>C (p.Lys756Gln) c.2161A>C (p.Lys721Gln) | |
| 3 | g.122284703A>G | CA354160681 | CASR | c.2518A>G (p.Lys840Glu) c.2779A>G (p.Lys927Glu) c.2749A>G (p.Lys917Glu) c.2266A>G (p.Lys756Glu) c.2161A>G (p.Lys721Glu) | ClinVar |
| 3 | g.122284703A>T | CA354160682 | CASR | c.2518A>T (p.Lys840Ter) c.2779A>T (p.Lys927Ter) c.2749A>T (p.Lys917Ter) c.2266A>T (p.Lys756Ter) c.2161A>T (p.Lys721Ter) | |
| 3 | g.122284704A>C | CA354160683 | CASR | c.2519A>C (p.Lys840Thr) c.2780A>C (p.Lys927Thr) c.2750A>C (p.Lys917Thr) c.2267A>C (p.Lys756Thr) c.2162A>C (p.Lys721Thr) | |
| 3 | g.122284704A>G | CA354160684 | CASR | c.2519A>G (p.Lys840Arg) c.2780A>G (p.Lys927Arg) c.2750A>G (p.Lys917Arg) c.2267A>G (p.Lys756Arg) c.2162A>G (p.Lys721Arg) | ClinVar |
| 3 | g.122284704A>T | CA354160685 | CASR | c.2519A>T (p.Lys840Met) c.2780A>T (p.Lys927Met) c.2750A>T (p.Lys917Met) c.2267A>T (p.Lys756Met) c.2162A>T (p.Lys721Met) | |
| 3 | g.122284705G>A | CA435425402 | CASR | c.2520G>A (p.Lys840=) c.2781G>A (p.Lys927=) c.2751G>A (p.Lys917=) c.2268G>A (p.Lys756=) c.2163G>A (p.Lys721=) | |
| 3 | g.122284705G>C | CA354160686 | CASR | c.2520G>C (p.Lys840Asn) c.2781G>C (p.Lys927Asn) c.2751G>C (p.Lys917Asn) c.2268G>C (p.Lys756Asn) c.2163G>C (p.Lys721Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284705G= | CA1397872873 | CASR | c.2520G= (p.Lys840=) c.2781G= (p.Lys927=) c.2751G= (p.Lys917=) c.2268G= (p.Lys756=) c.2163G= (p.Lys721=) | |
| 3 | g.122284705G>T | CA354160687 | CASR | c.2520G>T (p.Lys840Asn) c.2781G>T (p.Lys927Asn) c.2751G>T (p.Lys917Asn) c.2268G>T (p.Lys756Asn) c.2163G>T (p.Lys721Asn) | |
| 3 | g.122284706A>C | CA354160688 | CASR | c.2521A>C (p.Ser841Arg) c.2782A>C (p.Ser928Arg) c.2752A>C (p.Ser918Arg) c.2269A>C (p.Ser757Arg) c.2164A>C (p.Ser722Arg) | |
| 3 | g.122284706A>G | CA354160689 | CASR | c.2521A>G (p.Ser841Gly) c.2782A>G (p.Ser928Gly) c.2752A>G (p.Ser918Gly) c.2269A>G (p.Ser757Gly) c.2164A>G (p.Ser722Gly) | |
| 3 | g.122284706A>T | CA354160690 | CASR | c.2521A>T (p.Ser841Cys) c.2782A>T (p.Ser928Cys) c.2752A>T (p.Ser918Cys) c.2269A>T (p.Ser757Cys) c.2164A>T (p.Ser722Cys) | |
| 3 | g.122284707G>A | CA354160693 | CASR | c.2522G>A (p.Ser841Asn) c.2783G>A (p.Ser928Asn) c.2753G>A (p.Ser918Asn) c.2270G>A (p.Ser757Asn) c.2165G>A (p.Ser722Asn) | |
| 3 | g.122284707G>C | CA354160692 | CASR | c.2522G>C (p.Ser841Thr) c.2783G>C (p.Ser928Thr) c.2753G>C (p.Ser918Thr) c.2270G>C (p.Ser757Thr) c.2165G>C (p.Ser722Thr) | |
| 3 | g.122284707G>T | CA354160691 | CASR | c.2522G>T (p.Ser841Ile) c.2783G>T (p.Ser928Ile) c.2753G>T (p.Ser918Ile) c.2270G>T (p.Ser757Ile) c.2165G>T (p.Ser722Ile) | |
| 3 | g.122284708C>A | CA354160694 | CASR | c.2523C>A (p.Ser841Arg) c.2784C>A (p.Ser928Arg) c.2754C>A (p.Ser918Arg) c.2271C>A (p.Ser757Arg) c.2166C>A (p.Ser722Arg) | |
| 3 | g.122284708C>G | CA354160695 | CASR | c.2523C>G (p.Ser841Arg) c.2784C>G (p.Ser928Arg) c.2754C>G (p.Ser918Arg) c.2271C>G (p.Ser757Arg) c.2166C>G (p.Ser722Arg) | |
| 3 | g.122284708C>T | CA435425405 | CASR | c.2523C>T (p.Ser841=) c.2784C>T (p.Ser928=) c.2754C>T (p.Ser918=) c.2271C>T (p.Ser757=) c.2166C>T (p.Ser722=) | |
| 3 | g.122284709A= | CA1397872874 | CASR | c.2524A= (p.Asn842=) c.2785A= (p.Asn929=) c.2755A= (p.Asn919=) c.2272A= (p.Asn758=) c.2167A= (p.Asn723=) | |
| 3 | g.122284709A>C | CA354160696 | CASR | c.2524A>C (p.Asn842His) c.2785A>C (p.Asn929His) c.2755A>C (p.Asn919His) c.2272A>C (p.Asn758His) c.2167A>C (p.Asn723His) | |
| 3 | g.122284709A>G | CA82749202 | CASR | c.2524A>G (p.Asn842Asp) c.2785A>G (p.Asn929Asp) c.2755A>G (p.Asn919Asp) c.2272A>G (p.Asn758Asp) c.2167A>G (p.Asn723Asp) | dbSNP |
| 3 | g.122284709A>T | CA354160697 | CASR | c.2524A>T (p.Asn842Tyr) c.2785A>T (p.Asn929Tyr) c.2755A>T (p.Asn919Tyr) c.2272A>T (p.Asn758Tyr) c.2167A>T (p.Asn723Tyr) | |
| 3 | g.122284710A>C | CA354160698 | CASR | c.2525A>C (p.Asn842Thr) c.2786A>C (p.Asn929Thr) c.2756A>C (p.Asn919Thr) c.2273A>C (p.Asn758Thr) c.2168A>C (p.Asn723Thr) | |
| 3 | g.122284710A>G | CA354160699 | CASR | c.2525A>G (p.Asn842Ser) c.2786A>G (p.Asn929Ser) c.2756A>G (p.Asn919Ser) c.2273A>G (p.Asn758Ser) c.2168A>G (p.Asn723Ser) | ClinVar |
| 3 | g.122284710A>T | CA354160700 | CASR | c.2525A>T (p.Asn842Ile) c.2786A>T (p.Asn929Ile) c.2756A>T (p.Asn919Ile) c.2273A>T (p.Asn758Ile) c.2168A>T (p.Asn723Ile) | |
| 3 | g.122284711C>A | CA354160701 | CASR | c.2526C>A (p.Asn842Lys) c.2787C>A (p.Asn929Lys) c.2757C>A (p.Asn919Lys) c.2274C>A (p.Asn758Lys) c.2169C>A (p.Asn723Lys) | |
| 3 | g.122284711C>G | CA354160702 | CASR | c.2526C>G (p.Asn842Lys) c.2787C>G (p.Asn929Lys) c.2757C>G (p.Asn919Lys) c.2274C>G (p.Asn758Lys) c.2169C>G (p.Asn723Lys) | |
| 3 | g.122284711C>T | CA435425408 | CASR | c.2526C>T (p.Asn842=) c.2787C>T (p.Asn929=) c.2757C>T (p.Asn919=) c.2274C>T (p.Asn758=) c.2169C>T (p.Asn723=) | ClinVar gnomAD v4 |
| 3 | g.122284712A= | CA1397872876 | CASR | c.2527A= (p.Ser843=) c.2788A= (p.Ser930=) c.2758A= (p.Ser920=) c.2275A= (p.Ser759=) c.2170A= (p.Ser724=) | |
| 3 | g.122284712A>C | CA354160703 | CASR | c.2527A>C (p.Ser843Arg) c.2788A>C (p.Ser930Arg) c.2758A>C (p.Ser920Arg) c.2275A>C (p.Ser759Arg) c.2170A>C (p.Ser724Arg) | |
| 3 | g.122284712A>G | CA354160704 | CASR | c.2527A>G (p.Ser843Gly) c.2788A>G (p.Ser930Gly) c.2758A>G (p.Ser920Gly) c.2275A>G (p.Ser759Gly) c.2170A>G (p.Ser724Gly) | dbSNP |
| 3 | g.122284712A>T | CA354160705 | CASR | c.2527A>T (p.Ser843Cys) c.2788A>T (p.Ser930Cys) c.2758A>T (p.Ser920Cys) c.2275A>T (p.Ser759Cys) c.2170A>T (p.Ser724Cys) | |
| 3 | g.122284713G>A | CA2569857 | CASR | c.2528G>A (p.Ser843Asn) c.2789G>A (p.Ser930Asn) c.2759G>A (p.Ser920Asn) c.2276G>A (p.Ser759Asn) c.2171G>A (p.Ser724Asn) | ClinVar dbSNP ExAC gnomAD v4 |
| 3 | g.122284713G>C | CA354160707 | CASR | c.2528G>C (p.Ser843Thr) c.2789G>C (p.Ser930Thr) c.2759G>C (p.Ser920Thr) c.2276G>C (p.Ser759Thr) c.2171G>C (p.Ser724Thr) | |
| 3 | g.122284713G= | CA1397872877 | CASR | c.2528G= (p.Ser843=) c.2789G= (p.Ser930=) c.2759G= (p.Ser920=) c.2276G= (p.Ser759=) c.2171G= (p.Ser724=) | |
| 3 | g.122284713G>T | CA354160706 | CASR | c.2528G>T (p.Ser843Ile) c.2789G>T (p.Ser930Ile) c.2759G>T (p.Ser920Ile) c.2276G>T (p.Ser759Ile) c.2171G>T (p.Ser724Ile) | |
| 3 | g.122284714C>A | CA354160708 | CASR | c.2529C>A (p.Ser843Arg) c.2790C>A (p.Ser930Arg) c.2760C>A (p.Ser920Arg) c.2277C>A (p.Ser759Arg) c.2172C>A (p.Ser724Arg) | |
| 3 | g.122284714C= | CA1397872878 | CASR | c.2529C= (p.Ser843=) c.2790C= (p.Ser930=) c.2760C= (p.Ser920=) c.2277C= (p.Ser759=) c.2172C= (p.Ser724=) | |
| 3 | g.122284714C>G | CA2569858 | CASR | c.2529C>G (p.Ser843Arg) c.2790C>G (p.Ser930Arg) c.2760C>G (p.Ser920Arg) c.2277C>G (p.Ser759Arg) c.2172C>G (p.Ser724Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284714C>T | CA435425411 | CASR | c.2529C>T (p.Ser843=) c.2790C>T (p.Ser930=) c.2760C>T (p.Ser920=) c.2277C>T (p.Ser759=) c.2172C>T (p.Ser724=) | ClinVar dbSNP |
| 3 | g.122284715G>A | CA2569859 | CASR | c.2530G>A (p.Glu844Lys) c.2791G>A (p.Glu931Lys) c.2761G>A (p.Glu921Lys) c.2278G>A (p.Glu760Lys) c.2173G>A (p.Glu725Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284715G>C | CA354160709 | CASR | c.2530G>C (p.Glu844Gln) c.2791G>C (p.Glu931Gln) c.2761G>C (p.Glu921Gln) c.2278G>C (p.Glu760Gln) c.2173G>C (p.Glu725Gln) | |
| 3 | g.122284715G= | CA1397872880 | CASR | c.2530G= (p.Glu844=) c.2791G= (p.Glu931=) c.2761G= (p.Glu921=) c.2278G= (p.Glu760=) c.2173G= (p.Glu725=) | |
| 3 | g.122284715G>T | CA354160710 | CASR | c.2530G>T (p.Glu844Ter) c.2791G>T (p.Glu931Ter) c.2761G>T (p.Glu921Ter) c.2278G>T (p.Glu760Ter) c.2173G>T (p.Glu725Ter) |