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.122284979_122284985delinsCGACACG | CA1397873148 | CASR | c.2794_2800delinsCGACACG (p.Arg932=) c.3055_3061delinsCGACACG (p.Arg1019=) c.3025_3031delinsCGACACG (p.Arg1009=) c.2542_2548delinsCGACACG (p.Arg848=) c.2437_2443delinsCGACACG (p.Arg813=) | |
3 | g.122284980_122284985del | CA82749451 | CASR | c.2795_2800del (p.Arg932_Glu934delinsGln) c.3056_3061del (p.Arg1019_Glu1021delinsGln) c.3026_3031del (p.Arg1009_Glu1011delinsGln) c.2543_2548del (p.Arg848_Glu850delinsGln) c.2438_2443del (p.Arg813_Glu815delinsGln) | dbSNP |
3 | g.122284981_122284986del | CA354161290 | CASR | c.2796_2801del (p.His933_Glu934del) c.3057_3062del (p.His1020_Glu1021del) c.3027_3032del (p.His1010_Glu1011del) c.2544_2549del (p.His849_Glu850del) c.2439_2444del (p.His814_Glu815del) | |
3 | g.122284984C>A | CA354161295 | CASR | c.2799C>A (p.His933Gln) c.3060C>A (p.His1020Gln) c.3030C>A (p.His1010Gln) c.2547C>A (p.His849Gln) c.2442C>A (p.His814Gln) | |
3 | g.122284984C= | CA1397873160 | CASR | c.2799C= (p.His933=) c.3060C= (p.His1020=) c.3030C= (p.His1010=) c.2547C= (p.His849=) c.2442C= (p.His814=) | |
3 | g.122284984C>G | CA2569916 | CASR | c.2799C>G (p.His933Gln) c.3060C>G (p.His1020Gln) c.3030C>G (p.His1010Gln) c.2547C>G (p.His849Gln) c.2442C>G (p.His814Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284984C>T | CA2569917 | CASR | c.2799C>T (p.His933=) c.3060C>T (p.His1020=) c.3030C>T (p.His1010=) c.2547C>T (p.His849=) c.2442C>T (p.His814=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284984_122284985delinsAC | CA2573136468 | CASR | c.2799_2800delinsAC (p.His933_Glu934delinsGlnGln) c.3060_3061delinsAC (p.His1020_Glu1021delinsGlnGln) c.3030_3031delinsAC (p.His1010_Glu1011delinsGlnGln) c.2547_2548delinsAC (p.His849_Glu850delinsGlnGln) c.2442_2443delinsAC (p.His814_Glu815delinsGlnGln) | ClinVar dbSNP |
3 | g.122284984_122284985delinsCG | CA1397873159 | CASR | c.2799_2800delinsCG (p.His933=) c.3060_3061delinsCG (p.His1020=) c.3030_3031delinsCG (p.His1010=) c.2547_2548delinsCG (p.His849=) c.2442_2443delinsCG (p.His814=) | |
3 | g.122284984_122284985delinsGC | CA82749469 | CASR | c.2799_2800delinsGC (p.His933_Glu934delinsGlnGln) c.3060_3061delinsGC (p.His1020_Glu1021delinsGlnGln) c.3030_3031delinsGC (p.His1010_Glu1011delinsGlnGln) c.2547_2548delinsGC (p.His849_Glu850delinsGlnGln) c.2442_2443delinsGC (p.His814_Glu815delinsGlnGln) | dbSNP |
3 | g.122284985G>A | CA354161296 | CASR | c.2800G>A (p.Glu934Lys) c.3061G>A (p.Glu1021Lys) c.3031G>A (p.Glu1011Lys) c.2548G>A (p.Glu850Lys) c.2443G>A (p.Glu815Lys) | dbSNP |
3 | g.122284985G>C | CA179846 | CASR | c.2800G>C (p.Glu934Gln) c.3061G>C (p.Glu1021Gln) c.3031G>C (p.Glu1011Gln) c.2548G>C (p.Glu850Gln) c.2443G>C (p.Glu815Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284985G= | CA10582124 | CASR | c.2800G= (p.Glu934=) c.3061G= (p.Glu1021=) c.3031G= (p.Glu1011=) c.2548G= (p.Glu850=) c.2443G= (p.Glu815=) | |
3 | g.122284985G>T | CA354161297 | CASR | c.2800G>T (p.Glu934Ter) c.3061G>T (p.Glu1021Ter) c.3031G>T (p.Glu1011Ter) c.2548G>T (p.Glu850Ter) c.2443G>T (p.Glu815Ter) | |
3 | g.122284985_122284986insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC | CA1052945246 | CASR | c.2800_2801insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu934AlafsTer14) c.3061_3062insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu1021AlafsTer14) c.3031_3032insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu1011AlafsTer14) c.3031_3032insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Gln1011ProfsTer14) c.3061_3062insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Gln1021ProfsTer14) c.2548_2549insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu850AlafsTer14) c.2443_2444insCCATTACTCCCGCTGCAGTGCGGGGAAACGGTCAGATCTAAGTCCGTTTCCCCGACACC (p.Glu815AlafsTer14) | gnomAD v3 gnomAD v4 |
3 | g.122284986A>C | CA354161298 | CASR | c.2801A>C (p.Glu934Ala) c.3062A>C (p.Glu1021Ala) c.3032A>C (p.Glu1011Ala) c.3032A>C (p.Gln1011Pro) c.3062A>C (p.Gln1021Pro) c.2549A>C (p.Glu850Ala) c.2444A>C (p.Glu815Ala) | |
3 | g.122284986A>G | CA354161299 | CASR | c.2801A>G (p.Glu934Gly) c.3062A>G (p.Glu1021Gly) c.3032A>G (p.Glu1011Gly) c.3032A>G (p.Gln1011Arg) c.3062A>G (p.Gln1021Arg) c.2549A>G (p.Glu850Gly) c.2444A>G (p.Glu815Gly) | |
3 | g.122284986A>T | CA354161300 | CASR | c.2801A>T (p.Glu934Val) c.3062A>T (p.Glu1021Val) c.3032A>T (p.Glu1011Val) c.3032A>T (p.Gln1011Leu) c.3062A>T (p.Gln1021Leu) c.2549A>T (p.Glu850Val) c.2444A>T (p.Glu815Val) | |
3 | g.122284987G>A | CA435425553 | CASR | c.2802G>A (p.Glu934=) c.3063G>A (p.Glu1021=) c.3033G>A (p.Glu1011=) c.3033G>A (p.Gln1011=) c.3063G>A (p.Gln1021=) c.2550G>A (p.Glu850=) c.2445G>A (p.Glu815=) | ClinVar |
3 | g.122284987G>C | CA354161301 | CASR | c.2802G>C (p.Glu934Asp) c.3063G>C (p.Glu1021Asp) c.3033G>C (p.Glu1011Asp) c.3033G>C (p.Gln1011His) c.3063G>C (p.Gln1021His) c.2550G>C (p.Glu850Asp) c.2445G>C (p.Glu815Asp) | |
3 | g.122284987G>T | CA354161302 | CASR | c.2802G>T (p.Glu934Asp) c.3063G>T (p.Glu1021Asp) c.3033G>T (p.Glu1011Asp) c.3033G>T (p.Gln1011His) c.3063G>T (p.Gln1021His) c.2550G>T (p.Glu850Asp) c.2445G>T (p.Glu815Asp) | |
3 | g.122284988C>A | CA2569918 | CASR | c.2803C>A (p.Pro935Thr) c.3064C>A (p.Pro1022Thr) c.3034C>A (p.Pro1012Thr) c.2551C>A (p.Pro851Thr) c.2446C>A (p.Pro816Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284988C= | CA1397873163 | CASR | c.2803C= (p.Pro935=) c.3064C= (p.Pro1022=) c.3034C= (p.Pro1012=) c.2551C= (p.Pro851=) c.2446C= (p.Pro816=) | |
3 | g.122284988C>G | CA354161303 | CASR | c.2803C>G (p.Pro935Ala) c.3064C>G (p.Pro1022Ala) c.3034C>G (p.Pro1012Ala) c.2551C>G (p.Pro851Ala) c.2446C>G (p.Pro816Ala) | ClinVar |
3 | g.122284988C>T | CA354161304 | CASR | c.2803C>T (p.Pro935Ser) c.3064C>T (p.Pro1022Ser) c.3034C>T (p.Pro1012Ser) c.2551C>T (p.Pro851Ser) c.2446C>T (p.Pro816Ser) | |
3 | g.122284989C>A | CA354161306 | CASR | c.2804C>A (p.Pro935Gln) c.3065C>A (p.Pro1022Gln) c.3035C>A (p.Pro1012Gln) c.2552C>A (p.Pro851Gln) c.2447C>A (p.Pro816Gln) | ClinVar dbSNP |
3 | g.122284989C= | CA1397873165 | CASR | c.2804C= (p.Pro935=) c.3065C= (p.Pro1022=) c.3035C= (p.Pro1012=) c.2552C= (p.Pro851=) c.2447C= (p.Pro816=) | |
3 | g.122284989C>G | CA354161307 | CASR | c.2804C>G (p.Pro935Arg) c.3065C>G (p.Pro1022Arg) c.3035C>G (p.Pro1012Arg) c.2552C>G (p.Pro851Arg) c.2447C>G (p.Pro816Arg) | |
3 | g.122284989C>T | CA354161305 | CASR | c.2804C>T (p.Pro935Leu) c.3065C>T (p.Pro1022Leu) c.3035C>T (p.Pro1012Leu) c.2552C>T (p.Pro851Leu) c.2447C>T (p.Pro816Leu) | |
3 | g.122284990A= | CA1397873167 | CASR | c.2805A= (p.Pro935=) c.3066A= (p.Pro1022=) c.3036A= (p.Pro1012=) c.2553A= (p.Pro851=) c.2448A= (p.Pro816=) | |
3 | g.122284990A>C | CA435425554 | CASR | c.2805A>C (p.Pro935=) c.3066A>C (p.Pro1022=) c.3036A>C (p.Pro1012=) c.2553A>C (p.Pro851=) c.2448A>C (p.Pro816=) | |
3 | g.122284990A>G | CA435425555 | CASR | c.2805A>G (p.Pro935=) c.3066A>G (p.Pro1022=) c.3036A>G (p.Pro1012=) c.2553A>G (p.Pro851=) c.2448A>G (p.Pro816=) | ClinVar dbSNP gnomAD v2 |
3 | g.122284990A>T | CA435425556 | CASR | c.2805A>T (p.Pro935=) c.3066A>T (p.Pro1022=) c.3036A>T (p.Pro1012=) c.2553A>T (p.Pro851=) c.2448A>T (p.Pro816=) | |
3 | g.122284991T>A | CA354161308 | CASR | c.2806T>A (p.Leu936Ile) c.3067T>A (p.Leu1023Ile) c.3037T>A (p.Leu1013Ile) c.2554T>A (p.Leu852Ile) c.2449T>A (p.Leu817Ile) | |
3 | g.122284991T>C | CA435425557 | CASR | c.2806T>C (p.Leu936=) c.3067T>C (p.Leu1023=) c.3037T>C (p.Leu1013=) c.2554T>C (p.Leu852=) c.2449T>C (p.Leu817=) | |
3 | g.122284991T>G | CA354161309 | CASR | c.2806T>G (p.Leu936Val) c.3067T>G (p.Leu1023Val) c.3037T>G (p.Leu1013Val) c.2554T>G (p.Leu852Val) c.2449T>G (p.Leu817Val) | |
3 | g.122284992T>A | CA354161310 | CASR | c.2807T>A (p.Leu936Ter) c.3068T>A (p.Leu1023Ter) c.3038T>A (p.Leu1013Ter) c.2555T>A (p.Leu852Ter) c.2450T>A (p.Leu817Ter) | |
3 | g.122284992T>C | CA2569919 | CASR | c.2807T>C (p.Leu936Ser) c.3068T>C (p.Leu1023Ser) c.3038T>C (p.Leu1013Ser) c.2555T>C (p.Leu852Ser) c.2450T>C (p.Leu817Ser) | dbSNP ExAC gnomAD v2 |
3 | g.122284992T>G | CA354161311 | CASR | c.2807T>G (p.Leu936Ter) c.3068T>G (p.Leu1023Ter) c.3038T>G (p.Leu1013Ter) c.2555T>G (p.Leu852Ter) c.2450T>G (p.Leu817Ter) | |
3 | g.122284992T= | CA1397873168 | CASR | c.2807T= (p.Leu936=) c.3068T= (p.Leu1023=) c.3038T= (p.Leu1013=) c.2555T= (p.Leu852=) c.2450T= (p.Leu817=) | |
3 | g.122284993A>C | CA354161312 | CASR | c.2808A>C (p.Leu936Phe) c.3069A>C (p.Leu1023Phe) c.3039A>C (p.Leu1013Phe) c.2556A>C (p.Leu852Phe) c.2451A>C (p.Leu817Phe) | |
3 | g.122284993A>G | CA435425558 | CASR | c.2808A>G (p.Leu936=) c.3069A>G (p.Leu1023=) c.3039A>G (p.Leu1013=) c.2556A>G (p.Leu852=) c.2451A>G (p.Leu817=) | |
3 | g.122284993A>T | CA354161313 | CASR | c.2808A>T (p.Leu936Phe) c.3069A>T (p.Leu1023Phe) c.3039A>T (p.Leu1013Phe) c.2556A>T (p.Leu852Phe) c.2451A>T (p.Leu817Phe) | |
3 | g.122284994C>A | CA2569920 | CASR | c.2809C>A (p.Leu937Ile) c.3070C>A (p.Leu1024Ile) c.3040C>A (p.Leu1014Ile) c.2557C>A (p.Leu853Ile) c.2452C>A (p.Leu818Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284994C= | CA1397873170 | CASR | c.2809C= (p.Leu937=) c.3070C= (p.Leu1024=) c.3040C= (p.Leu1014=) c.2557C= (p.Leu853=) c.2452C= (p.Leu818=) | |
3 | g.122284994C>G | CA354161314 | CASR | c.2809C>G (p.Leu937Val) c.3070C>G (p.Leu1024Val) c.3040C>G (p.Leu1014Val) c.2557C>G (p.Leu853Val) c.2452C>G (p.Leu818Val) | |
3 | g.122284994C>T | CA82749487 | CASR | c.2809C>T (p.Leu937Phe) c.3070C>T (p.Leu1024Phe) c.3040C>T (p.Leu1014Phe) c.2557C>T (p.Leu853Phe) c.2452C>T (p.Leu818Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284995T>A | CA354161315 | CASR | c.2810T>A (p.Leu937His) c.3071T>A (p.Leu1024His) c.3041T>A (p.Leu1014His) c.2558T>A (p.Leu853His) c.2453T>A (p.Leu818His) | |
3 | g.122284995T>C | CA354161316 | CASR | c.2810T>C (p.Leu937Pro) c.3071T>C (p.Leu1024Pro) c.3041T>C (p.Leu1014Pro) c.2558T>C (p.Leu853Pro) c.2453T>C (p.Leu818Pro) | ClinVar |
3 | g.122284995T>G | CA354161317 | CASR | c.2810T>G (p.Leu937Arg) c.3071T>G (p.Leu1024Arg) c.3041T>G (p.Leu1014Arg) c.2558T>G (p.Leu853Arg) c.2453T>G (p.Leu818Arg) | |
3 | g.122284995_122284996delinsTC | CA1397873171 | CASR | c.2810_2811delinsTC (p.Leu937=) c.3071_3072delinsTC (p.Leu1024=) c.3041_3042delinsTC (p.Leu1014=) c.2558_2559delinsTC (p.Leu853=) c.2453_2454delinsTC (p.Leu818=) | |
3 | g.122284996C>A | CA435425559 | CASR | c.2811C>A (p.Leu937=) c.3072C>A (p.Leu1024=) c.3042C>A (p.Leu1014=) c.2559C>A (p.Leu853=) c.2454C>A (p.Leu818=) | ClinVar dbSNP |
3 | g.122284996C= | CA1397873176 | CASR | c.2811C= (p.Leu937=) c.3072C= (p.Leu1024=) c.3042C= (p.Leu1014=) c.2559C= (p.Leu853=) c.2454C= (p.Leu818=) | |
3 | g.122284996C>G | CA435425560 | CASR | c.2811C>G (p.Leu937=) c.3072C>G (p.Leu1024=) c.3042C>G (p.Leu1014=) c.2559C>G (p.Leu853=) c.2454C>G (p.Leu818=) | ClinVar dbSNP |
3 | g.122284996C>T | CA435425561 | CASR | c.2811C>T (p.Leu937=) c.3072C>T (p.Leu1024=) c.3042C>T (p.Leu1014=) c.2559C>T (p.Leu853=) c.2454C>T (p.Leu818=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284998del | CA916082597 | CASR | c.2813del (p.Pro938ArgfsTer9) c.3074del (p.Pro1025ArgfsTer9) c.3044del (p.Pro1015ArgfsTer9) c.2561del (p.Pro854ArgfsTer9) c.2456del (p.Pro819ArgfsTer9) | ClinVar dbSNP gnomAD v4 |
3 | g.122284997C>A | CA354161320 | CASR | c.2812C>A (p.Pro938Thr) c.3073C>A (p.Pro1025Thr) c.3043C>A (p.Pro1015Thr) c.2560C>A (p.Pro854Thr) c.2455C>A (p.Pro819Thr) | |
3 | g.122284997C>G | CA354161319 | CASR | c.2812C>G (p.Pro938Ala) c.3073C>G (p.Pro1025Ala) c.3043C>G (p.Pro1015Ala) c.2560C>G (p.Pro854Ala) c.2455C>G (p.Pro819Ala) | |
3 | g.122284997C>T | CA354161318 | CASR | c.2812C>T (p.Pro938Ser) c.3073C>T (p.Pro1025Ser) c.3043C>T (p.Pro1015Ser) c.2560C>T (p.Pro854Ser) c.2455C>T (p.Pro819Ser) | |
3 | g.122284998C>A | CA354161321 | CASR | c.2813C>A (p.Pro938Gln) c.3074C>A (p.Pro1025Gln) c.3044C>A (p.Pro1015Gln) c.2561C>A (p.Pro854Gln) c.2456C>A (p.Pro819Gln) | |
3 | g.122284998C= | CA1397873177 | CASR | c.2813C= (p.Pro938=) c.3074C= (p.Pro1025=) c.3044C= (p.Pro1015=) c.2561C= (p.Pro854=) c.2456C= (p.Pro819=) | |
3 | g.122284998C>G | CA354161322 | CASR | c.2813C>G (p.Pro938Arg) c.3074C>G (p.Pro1025Arg) c.3044C>G (p.Pro1015Arg) c.2561C>G (p.Pro854Arg) c.2456C>G (p.Pro819Arg) | |
3 | g.122284998C>T | CA2569921 | CASR | c.2813C>T (p.Pro938Leu) c.3074C>T (p.Pro1025Leu) c.3044C>T (p.Pro1015Leu) c.2561C>T (p.Pro854Leu) c.2456C>T (p.Pro819Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122284999G>A | CA2569922 | CASR | c.2814G>A (p.Pro938=) c.3075G>A (p.Pro1025=) c.3045G>A (p.Pro1015=) c.2562G>A (p.Pro854=) c.2457G>A (p.Pro819=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284999G>C | CA435425563 | CASR | c.2814G>C (p.Pro938=) c.3075G>C (p.Pro1025=) c.3045G>C (p.Pro1015=) c.2562G>C (p.Pro854=) c.2457G>C (p.Pro819=) | |
3 | g.122284999G= | CA1397873179 | CASR | c.2814G= (p.Pro938=) c.3075G= (p.Pro1025=) c.3045G= (p.Pro1015=) c.2562G= (p.Pro854=) c.2457G= (p.Pro819=) | |
3 | g.122284999G>T | CA435425562 | CASR | c.2814G>T (p.Pro938=) c.3075G>T (p.Pro1025=) c.3045G>T (p.Pro1015=) c.2562G>T (p.Pro854=) c.2457G>T (p.Pro819=) | ClinVar |
3 | g.122285000C>A | CA354161323 | CASR | c.2815C>A (p.Leu939Met) c.3076C>A (p.Leu1026Met) c.3046C>A (p.Leu1016Met) c.2563C>A (p.Leu855Met) c.2458C>A (p.Leu820Met) | |
3 | g.122285000C>G | CA354161324 | CASR | c.2815C>G (p.Leu939Val) c.3076C>G (p.Leu1026Val) c.3046C>G (p.Leu1016Val) c.2563C>G (p.Leu855Val) c.2458C>G (p.Leu820Val) | |
3 | g.122285000C>T | CA435425564 | CASR | c.2815C>T (p.Leu939=) c.3076C>T (p.Leu1026=) c.3046C>T (p.Leu1016=) c.2563C>T (p.Leu855=) c.2458C>T (p.Leu820=) | |
3 | g.122285001T>A | CA354161325 | CASR | c.2816T>A (p.Leu939Gln) c.3077T>A (p.Leu1026Gln) c.3047T>A (p.Leu1016Gln) c.2564T>A (p.Leu855Gln) c.2459T>A (p.Leu820Gln) | gnomAD v4 |
3 | g.122285001T>C | CA2569923 | CASR | c.2816T>C (p.Leu939Pro) c.3077T>C (p.Leu1026Pro) c.3047T>C (p.Leu1016Pro) c.2564T>C (p.Leu855Pro) c.2459T>C (p.Leu820Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122285001T>G | CA354161326 | CASR | c.2816T>G (p.Leu939Arg) c.3077T>G (p.Leu1026Arg) c.3047T>G (p.Leu1016Arg) c.2564T>G (p.Leu855Arg) c.2459T>G (p.Leu820Arg) | |
3 | g.122285001T= | CA1397873180 | CASR | c.2816T= (p.Leu939=) c.3077T= (p.Leu1026=) c.3047T= (p.Leu1016=) c.2564T= (p.Leu855=) c.2459T= (p.Leu820=) | |
3 | g.122285002G>A | CA435425565 | CASR | c.2817G>A (p.Leu939=) c.3078G>A (p.Leu1026=) c.3048G>A (p.Leu1016=) c.2565G>A (p.Leu855=) c.2460G>A (p.Leu820=) | ClinVar dbSNP |
3 | g.122285002G>C | CA435425566 | CASR | c.2817G>C (p.Leu939=) c.3078G>C (p.Leu1026=) c.3048G>C (p.Leu1016=) c.2565G>C (p.Leu855=) c.2460G>C (p.Leu820=) | |
3 | g.122285002G= | CA1397873182 | CASR | c.2817G= (p.Leu939=) c.3078G= (p.Leu1026=) c.3048G= (p.Leu1016=) c.2565G= (p.Leu855=) c.2460G= (p.Leu820=) | |
3 | g.122285002G>T | CA435425567 | CASR | c.2817G>T (p.Leu939=) c.3078G>T (p.Leu1026=) c.3048G>T (p.Leu1016=) c.2565G>T (p.Leu855=) c.2460G>T (p.Leu820=) | ClinVar |
3 | g.122285003C>A | CA354161327 | CASR | c.2818C>A (p.Gln940Lys) c.3079C>A (p.Gln1027Lys) c.3049C>A (p.Gln1017Lys) c.2566C>A (p.Gln856Lys) c.2461C>A (p.Gln821Lys) | |
3 | g.122285003C>G | CA354161328 | CASR | c.2818C>G (p.Gln940Glu) c.3079C>G (p.Gln1027Glu) c.3049C>G (p.Gln1017Glu) c.2566C>G (p.Gln856Glu) c.2461C>G (p.Gln821Glu) | |
3 | g.122285003C>T | CA354161329 | CASR | c.2818C>T (p.Gln940Ter) c.3079C>T (p.Gln1027Ter) c.3049C>T (p.Gln1017Ter) c.2566C>T (p.Gln856Ter) c.2461C>T (p.Gln821Ter) | |
3 | g.122285004A= | CA1397873184 | CASR | c.2819A= (p.Gln940=) c.3080A= (p.Gln1027=) c.3050A= (p.Gln1017=) c.2567A= (p.Gln856=) c.2462A= (p.Gln821=) | |
3 | g.122285004A>C | CA354161331 | CASR | c.2819A>C (p.Gln940Pro) c.3080A>C (p.Gln1027Pro) c.3050A>C (p.Gln1017Pro) c.2567A>C (p.Gln856Pro) c.2462A>C (p.Gln821Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.122285004A>G | CA2569924 | CASR | c.2819A>G (p.Gln940Arg) c.3080A>G (p.Gln1027Arg) c.3050A>G (p.Gln1017Arg) c.2567A>G (p.Gln856Arg) c.2462A>G (p.Gln821Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122285004A>T | CA354161330 | CASR | c.2819A>T (p.Gln940Leu) c.3080A>T (p.Gln1027Leu) c.3050A>T (p.Gln1017Leu) c.2567A>T (p.Gln856Leu) c.2462A>T (p.Gln821Leu) | COSMIC |
3 | g.122285005G>A | CA435425568 | CASR | c.2820G>A (p.Gln940=) c.3081G>A (p.Gln1027=) c.3051G>A (p.Gln1017=) c.2568G>A (p.Gln856=) c.2463G>A (p.Gln821=) | |
3 | g.122285005G>C | CA354161332 | CASR | c.2820G>C (p.Gln940His) c.3081G>C (p.Gln1027His) c.3051G>C (p.Gln1017His) c.2568G>C (p.Gln856His) c.2463G>C (p.Gln821His) | |
3 | g.122285005G>T | CA354161333 | CASR | c.2820G>T (p.Gln940His) c.3081G>T (p.Gln1027His) c.3051G>T (p.Gln1017His) c.2568G>T (p.Gln856His) c.2463G>T (p.Gln821His) | |
3 | g.122285006T>A | CA354161334 | CASR | c.2821T>A (p.Cys941Ser) c.3082T>A (p.Cys1028Ser) c.3052T>A (p.Cys1018Ser) c.2569T>A (p.Cys857Ser) c.2464T>A (p.Cys822Ser) | |
3 | g.122285006T>C | CA354161336 | CASR | c.2821T>C (p.Cys941Arg) c.3082T>C (p.Cys1028Arg) c.3052T>C (p.Cys1018Arg) c.2569T>C (p.Cys857Arg) c.2464T>C (p.Cys822Arg) | ClinVar gnomAD v4 |
3 | g.122285006T>G | CA354161335 | CASR | c.2821T>G (p.Cys941Gly) c.3082T>G (p.Cys1028Gly) c.3052T>G (p.Cys1018Gly) c.2569T>G (p.Cys857Gly) c.2464T>G (p.Cys822Gly) | ClinVar |
3 | g.122285007G>A | CA354161337 | CASR | c.2822G>A (p.Cys941Tyr) c.3083G>A (p.Cys1028Tyr) c.3053G>A (p.Cys1018Tyr) c.2570G>A (p.Cys857Tyr) c.2465G>A (p.Cys822Tyr) | |
3 | g.122285007G>C | CA354161339 | CASR | c.2822G>C (p.Cys941Ser) c.3083G>C (p.Cys1028Ser) c.3053G>C (p.Cys1018Ser) c.2570G>C (p.Cys857Ser) c.2465G>C (p.Cys822Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122285007G= | CA1397873185 | CASR | c.2822G= (p.Cys941=) c.3083G= (p.Cys1028=) c.3053G= (p.Cys1018=) c.2570G= (p.Cys857=) c.2465G= (p.Cys822=) | |
3 | g.122285007G>T | CA354161338 | CASR | c.2822G>T (p.Cys941Phe) c.3083G>T (p.Cys1028Phe) c.3053G>T (p.Cys1018Phe) c.2570G>T (p.Cys857Phe) c.2465G>T (p.Cys822Phe) | |
3 | g.122285008C>A | CA354161340 | CASR | c.2823C>A (p.Cys941Ter) c.3084C>A (p.Cys1028Ter) c.3054C>A (p.Cys1018Ter) c.2571C>A (p.Cys857Ter) c.2466C>A (p.Cys822Ter) | |
3 | g.122285008C= | CA1397873187 | CASR | c.2823C= (p.Cys941=) c.3084C= (p.Cys1028=) c.3054C= (p.Cys1018=) c.2571C= (p.Cys857=) c.2466C= (p.Cys822=) | |
3 | g.122285008C>G | CA354161341 | CASR | c.2823C>G (p.Cys941Trp) c.3084C>G (p.Cys1028Trp) c.3054C>G (p.Cys1018Trp) c.2571C>G (p.Cys857Trp) c.2466C>G (p.Cys822Trp) | |
3 | g.122285008C>T | CA2569925 | CASR | c.2823C>T (p.Cys941=) c.3084C>T (p.Cys1028=) c.3054C>T (p.Cys1018=) c.2571C>T (p.Cys857=) c.2466C>T (p.Cys822=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122285009G>A | CA16611138 | CASR | c.2824G>A (p.Gly942Arg) c.3085G>A (p.Gly1029Arg) c.3055G>A (p.Gly1019Arg) c.2572G>A (p.Gly858Arg) c.2467G>A (p.Gly823Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285009G>C | CA354161342 | CASR | c.2824G>C (p.Gly942Arg) c.3085G>C (p.Gly1029Arg) c.3055G>C (p.Gly1019Arg) c.2572G>C (p.Gly858Arg) c.2467G>C (p.Gly823Arg) | |
3 | g.122285009G= | CA1397873189 | CASR | c.2824G= (p.Gly942=) c.3085G= (p.Gly1029=) c.3055G= (p.Gly1019=) c.2572G= (p.Gly858=) c.2467G= (p.Gly823=) | |
3 | g.122285009G>T | CA354161343 | CASR | c.2824G>T (p.Gly942Trp) c.3085G>T (p.Gly1029Trp) c.3055G>T (p.Gly1019Trp) c.2572G>T (p.Gly858Trp) c.2467G>T (p.Gly823Trp) | |
3 | g.122285012del | CA2580068670 | CASR | c.2827del (p.Glu943LysfsTer4) c.3088del (p.Glu1030LysfsTer4) c.3058del (p.Glu1020LysfsTer4) c.2575del (p.Glu859LysfsTer4) c.2470del (p.Glu824LysfsTer4) | ClinVar |
3 | g.122285010G>A | CA354161344 | CASR | c.2825G>A (p.Gly942Glu) c.3086G>A (p.Gly1029Glu) c.3056G>A (p.Gly1019Glu) c.2573G>A (p.Gly858Glu) c.2468G>A (p.Gly823Glu) | ClinVar |
3 | g.122285010G>C | CA354161345 | CASR | c.2825G>C (p.Gly942Ala) c.3086G>C (p.Gly1029Ala) c.3056G>C (p.Gly1019Ala) c.2573G>C (p.Gly858Ala) c.2468G>C (p.Gly823Ala) | |
3 | g.122285010G>T | CA354161346 | CASR | c.2825G>T (p.Gly942Val) c.3086G>T (p.Gly1029Val) c.3056G>T (p.Gly1019Val) c.2573G>T (p.Gly858Val) c.2468G>T (p.Gly823Val) | |
3 | g.122285011G>A | CA435425569 | CASR | c.2826G>A (p.Gly942=) c.3087G>A (p.Gly1029=) c.3057G>A (p.Gly1019=) c.2574G>A (p.Gly858=) c.2469G>A (p.Gly823=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285011G>C | CA435425570 | CASR | c.2826G>C (p.Gly942=) c.3087G>C (p.Gly1029=) c.3057G>C (p.Gly1019=) c.2574G>C (p.Gly858=) c.2469G>C (p.Gly823=) | ClinVar |
3 | g.122285011G= | CA1397873191 | CASR | c.2826G= (p.Gly942=) c.3087G= (p.Gly1029=) c.3057G= (p.Gly1019=) c.2574G= (p.Gly858=) c.2469G= (p.Gly823=) | |
3 | g.122285011G>T | CA435425571 | CASR | c.2826G>T (p.Gly942=) c.3087G>T (p.Gly1029=) c.3057G>T (p.Gly1019=) c.2574G>T (p.Gly858=) c.2469G>T (p.Gly823=) | |
3 | g.122285012G>A | CA354161347 | CASR | c.2827G>A (p.Glu943Lys) c.3088G>A (p.Glu1030Lys) c.3058G>A (p.Glu1020Lys) c.2575G>A (p.Glu859Lys) c.2470G>A (p.Glu824Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122285012G>C | CA16611098 | CASR | c.2827G>C (p.Glu943Gln) c.3088G>C (p.Glu1030Gln) c.3058G>C (p.Glu1020Gln) c.2575G>C (p.Glu859Gln) c.2470G>C (p.Glu824Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122285012G= | CA1397873195 | CASR | c.2827G= (p.Glu943=) c.3088G= (p.Glu1030=) c.3058G= (p.Glu1020=) c.2575G= (p.Glu859=) c.2470G= (p.Glu824=) | |
3 | g.122285012G>T | CA354161348 | CASR | c.2827G>T (p.Glu943Ter) c.3088G>T (p.Glu1030Ter) c.3058G>T (p.Glu1020Ter) c.2575G>T (p.Glu859Ter) c.2470G>T (p.Glu824Ter) | dbSNP |
3 | g.122285013A>C | CA354161349 | CASR | c.2828A>C (p.Glu943Ala) c.3089A>C (p.Glu1030Ala) c.3059A>C (p.Glu1020Ala) c.2576A>C (p.Glu859Ala) c.2471A>C (p.Glu824Ala) | |
3 | g.122285013A>G | CA354161351 | CASR | c.2828A>G (p.Glu943Gly) c.3089A>G (p.Glu1030Gly) c.3059A>G (p.Glu1020Gly) c.2576A>G (p.Glu859Gly) c.2471A>G (p.Glu824Gly) | |
3 | g.122285013A>T | CA354161350 | CASR | c.2828A>T (p.Glu943Val) c.3089A>T (p.Glu1030Val) c.3059A>T (p.Glu1020Val) c.2576A>T (p.Glu859Val) c.2471A>T (p.Glu824Val) | |
3 | g.122285014A>C | CA354161352 | CASR | c.2829A>C (p.Glu943Asp) c.3090A>C (p.Glu1030Asp) c.3060A>C (p.Glu1020Asp) c.2577A>C (p.Glu859Asp) c.2472A>C (p.Glu824Asp) | |
3 | g.122285014A>G | CA435425572 | CASR | c.2829A>G (p.Glu943=) c.3090A>G (p.Glu1030=) c.3060A>G (p.Glu1020=) c.2577A>G (p.Glu859=) c.2472A>G (p.Glu824=) | |
3 | g.122285014A>T | CA354161353 | CASR | c.2829A>T (p.Glu943Asp) c.3090A>T (p.Glu1030Asp) c.3060A>T (p.Glu1020Asp) c.2577A>T (p.Glu859Asp) c.2472A>T (p.Glu824Asp) | |
3 | g.122285015A>C | CA354161354 | CASR | c.2830A>C (p.Thr944Pro) c.3091A>C (p.Thr1031Pro) c.3061A>C (p.Thr1021Pro) c.2578A>C (p.Thr860Pro) c.2473A>C (p.Thr825Pro) | |
3 | g.122285015A>G | CA354161355 | CASR | c.2830A>G (p.Thr944Ala) c.3091A>G (p.Thr1031Ala) c.3061A>G (p.Thr1021Ala) c.2578A>G (p.Thr860Ala) c.2473A>G (p.Thr825Ala) | gnomAD v4 |
3 | g.122285015A>T | CA354161356 | CASR | c.2830A>T (p.Thr944Ser) c.3091A>T (p.Thr1031Ser) c.3061A>T (p.Thr1021Ser) c.2578A>T (p.Thr860Ser) c.2473A>T (p.Thr825Ser) | |
3 | g.122285016C>A | CA2569926 | CASR | c.2831C>A (p.Thr944Lys) c.3092C>A (p.Thr1031Lys) c.3062C>A (p.Thr1021Lys) c.2579C>A (p.Thr860Lys) c.2474C>A (p.Thr825Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285016C= | CA1397873198 | CASR | c.2831C= (p.Thr944=) c.3092C= (p.Thr1031=) c.3062C= (p.Thr1021=) c.2579C= (p.Thr860=) c.2474C= (p.Thr825=) | |
3 | g.122285016C>G | CA82749519 | CASR | c.2831C>G (p.Thr944Arg) c.3092C>G (p.Thr1031Arg) c.3062C>G (p.Thr1021Arg) c.2579C>G (p.Thr860Arg) c.2474C>G (p.Thr825Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285016C>T | CA354161357 | CASR | c.2831C>T (p.Thr944Met) c.3092C>T (p.Thr1031Met) c.3062C>T (p.Thr1021Met) c.2579C>T (p.Thr860Met) c.2474C>T (p.Thr825Met) | ClinVar dbSNP gnomAD v4 |
3 | g.122285017G>A | CA213595 | CASR | c.2832G>A (p.Thr944=) c.3093G>A (p.Thr1031=) c.3063G>A (p.Thr1021=) c.2580G>A (p.Thr860=) c.2475G>A (p.Thr825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122285017G>C | CA82749525 | CASR | c.2832G>C (p.Thr944=) c.3093G>C (p.Thr1031=) c.3063G>C (p.Thr1021=) c.2580G>C (p.Thr860=) c.2475G>C (p.Thr825=) | ClinVar dbSNP gnomAD v4 |
3 | g.122285017G= | CA1397873201 | CASR | c.2832G= (p.Thr944=) c.3093G= (p.Thr1031=) c.3063G= (p.Thr1021=) c.2580G= (p.Thr860=) c.2475G= (p.Thr825=) | |
3 | g.122285017G>T | CA435425573 | CASR | c.2832G>T (p.Thr944=) c.3093G>T (p.Thr1031=) c.3063G>T (p.Thr1021=) c.2580G>T (p.Thr860=) c.2475G>T (p.Thr825=) | |
3 | g.122285018G>A | CA354161360 | CASR | c.2833G>A (p.Asp945Asn) c.3094G>A (p.Asp1032Asn) c.3064G>A (p.Asp1022Asn) c.2581G>A (p.Asp861Asn) c.2476G>A (p.Asp826Asn) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122285018G>C | CA354161359 | CASR | c.2833G>C (p.Asp945His) c.3094G>C (p.Asp1032His) c.3064G>C (p.Asp1022His) c.2581G>C (p.Asp861His) c.2476G>C (p.Asp826His) | |
3 | g.122285018G>T | CA354161358 | CASR | c.2833G>T (p.Asp945Tyr) c.3094G>T (p.Asp1032Tyr) c.3064G>T (p.Asp1022Tyr) c.2581G>T (p.Asp861Tyr) c.2476G>T (p.Asp826Tyr) | |
3 | g.122285019A= | CA1397873203 | CASR | c.2834A= (p.Asp945=) c.3095A= (p.Asp1032=) c.3065A= (p.Asp1022=) c.2582A= (p.Asp861=) c.2477A= (p.Asp826=) | |
3 | g.122285019A>C | CA354161361 | CASR | c.2834A>C (p.Asp945Ala) c.3095A>C (p.Asp1032Ala) c.3065A>C (p.Asp1022Ala) c.2582A>C (p.Asp861Ala) c.2477A>C (p.Asp826Ala) | |
3 | g.122285019A>G | CA354161362 | CASR | c.2834A>G (p.Asp945Gly) c.3095A>G (p.Asp1032Gly) c.3065A>G (p.Asp1022Gly) c.2582A>G (p.Asp861Gly) c.2477A>G (p.Asp826Gly) | dbSNP |
3 | g.122285019A>T | CA354161363 | CASR | c.2834A>T (p.Asp945Val) c.3095A>T (p.Asp1032Val) c.3065A>T (p.Asp1022Val) c.2582A>T (p.Asp861Val) c.2477A>T (p.Asp826Val) | |
3 | g.122285020C>A | CA354161364 | CASR | c.2835C>A (p.Asp945Glu) c.3096C>A (p.Asp1032Glu) c.3066C>A (p.Asp1022Glu) c.2583C>A (p.Asp861Glu) c.2478C>A (p.Asp826Glu) | |
3 | g.122285020C>G | CA354161365 | CASR | c.2835C>G (p.Asp945Glu) c.3096C>G (p.Asp1032Glu) c.3066C>G (p.Asp1022Glu) c.2583C>G (p.Asp861Glu) c.2478C>G (p.Asp826Glu) | |
3 | g.122285020C>T | CA435425574 | CASR | c.2835C>T (p.Asp945=) c.3096C>T (p.Asp1032=) c.3066C>T (p.Asp1022=) c.2583C>T (p.Asp861=) c.2478C>T (p.Asp826=) | |
3 | g.122285021T>A | CA354161366 | CASR | c.2836T>A (p.Leu946Ile) c.3097T>A (p.Leu1033Ile) c.3067T>A (p.Leu1023Ile) c.2584T>A (p.Leu862Ile) c.2479T>A (p.Leu827Ile) | |
3 | g.122285021T>C | CA435425575 | CASR | c.2836T>C (p.Leu946=) c.3097T>C (p.Leu1033=) c.3067T>C (p.Leu1023=) c.2584T>C (p.Leu862=) c.2479T>C (p.Leu827=) | |
3 | g.122285021T>G | CA354161367 | CASR | c.2836T>G (p.Leu946Val) c.3097T>G (p.Leu1033Val) c.3067T>G (p.Leu1023Val) c.2584T>G (p.Leu862Val) c.2479T>G (p.Leu827Val) | |
3 | g.122285022T>A | CA354161368 | CASR | c.2837T>A (p.Leu946Ter) c.3098T>A (p.Leu1033Ter) c.3068T>A (p.Leu1023Ter) c.2585T>A (p.Leu862Ter) c.2480T>A (p.Leu827Ter) | |
3 | g.122285022T>C | CA354161369 | CASR | c.2837T>C (p.Leu946Ser) c.3098T>C (p.Leu1033Ser) c.3068T>C (p.Leu1023Ser) c.2585T>C (p.Leu862Ser) c.2480T>C (p.Leu827Ser) | |
3 | g.122285022T>G | CA354161370 | CASR | c.2837T>G (p.Leu946Ter) c.3098T>G (p.Leu1033Ter) c.3068T>G (p.Leu1023Ter) c.2585T>G (p.Leu862Ter) c.2480T>G (p.Leu827Ter) | |
3 | g.122285023A= | CA1397873205 | CASR | c.2838A= (p.Leu946=) c.3099A= (p.Leu1033=) c.3069A= (p.Leu1023=) c.2586A= (p.Leu862=) c.2481A= (p.Leu827=) | |
3 | g.122285023A>C | CA354161371 | CASR | c.2838A>C (p.Leu946Phe) c.3099A>C (p.Leu1033Phe) c.3069A>C (p.Leu1023Phe) c.2586A>C (p.Leu862Phe) c.2481A>C (p.Leu827Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285023A>G | CA435425576 | CASR | c.2838A>G (p.Leu946=) c.3099A>G (p.Leu1033=) c.3069A>G (p.Leu1023=) c.2586A>G (p.Leu862=) c.2481A>G (p.Leu827=) | ClinVar dbSNP |
3 | g.122285023A>T | CA354161372 | CASR | c.2838A>T (p.Leu946Phe) c.3099A>T (p.Leu1033Phe) c.3069A>T (p.Leu1023Phe) c.2586A>T (p.Leu862Phe) c.2481A>T (p.Leu827Phe) | |
3 | g.122285024G>A | CA354161375 | CASR | c.2839G>A (p.Asp947Asn) c.3100G>A (p.Asp1034Asn) c.3070G>A (p.Asp1024Asn) c.2587G>A (p.Asp863Asn) c.2482G>A (p.Asp828Asn) | |
3 | g.122285024G>C | CA354161373 | CASR | c.2839G>C (p.Asp947His) c.3100G>C (p.Asp1034His) c.3070G>C (p.Asp1024His) c.2587G>C (p.Asp863His) c.2482G>C (p.Asp828His) | |
3 | g.122285024G>T | CA354161374 | CASR | c.2839G>T (p.Asp947Tyr) c.3100G>T (p.Asp1034Tyr) c.3070G>T (p.Asp1024Tyr) c.2587G>T (p.Asp863Tyr) c.2482G>T (p.Asp828Tyr) | ClinVar dbSNP |
3 | g.122285025A>C | CA354161376 | CASR | c.2840A>C (p.Asp947Ala) c.3101A>C (p.Asp1034Ala) c.3071A>C (p.Asp1024Ala) c.2588A>C (p.Asp863Ala) c.2483A>C (p.Asp828Ala) | |
3 | g.122285025A>G | CA354161377 | CASR | c.2840A>G (p.Asp947Gly) c.3101A>G (p.Asp1034Gly) c.3071A>G (p.Asp1024Gly) c.2588A>G (p.Asp863Gly) c.2483A>G (p.Asp828Gly) | |
3 | g.122285025A>T | CA354161378 | CASR | c.2840A>T (p.Asp947Val) c.3101A>T (p.Asp1034Val) c.3071A>T (p.Asp1024Val) c.2588A>T (p.Asp863Val) c.2483A>T (p.Asp828Val) | |
3 | g.122285026T>A | CA354161379 | CASR | c.2841T>A (p.Asp947Glu) c.3102T>A (p.Asp1034Glu) c.3072T>A (p.Asp1024Glu) c.2589T>A (p.Asp863Glu) c.2484T>A (p.Asp828Glu) | |
3 | g.122285026T>C | CA435425577 | CASR | c.2841T>C (p.Asp947=) c.3102T>C (p.Asp1034=) c.3072T>C (p.Asp1024=) c.2589T>C (p.Asp863=) c.2484T>C (p.Asp828=) | ClinVar gnomAD v4 |
3 | g.122285026T>G | CA354161380 | CASR | c.2841T>G (p.Asp947Glu) c.3102T>G (p.Asp1034Glu) c.3072T>G (p.Asp1024Glu) c.2589T>G (p.Asp863Glu) c.2484T>G (p.Asp828Glu) | |
3 | g.122285027C>A | CA354161381 | CASR | c.2842C>A (p.Leu948Met) c.3103C>A (p.Leu1035Met) c.3073C>A (p.Leu1025Met) c.2590C>A (p.Leu864Met) c.2485C>A (p.Leu829Met) | COSMIC |
3 | g.122285027C= | CA1397873209 | CASR | c.2842C= (p.Leu948=) c.3103C= (p.Leu1035=) c.3073C= (p.Leu1025=) c.2590C= (p.Leu864=) c.2485C= (p.Leu829=) | |
3 | g.122285027C>G | CA354161382 | CASR | c.2842C>G (p.Leu948Val) c.3103C>G (p.Leu1035Val) c.3073C>G (p.Leu1025Val) c.2590C>G (p.Leu864Val) c.2485C>G (p.Leu829Val) | ClinVar |
3 | g.122285027C>T | CA2569927 | CASR | c.2842C>T (p.Leu948=) c.3103C>T (p.Leu1035=) c.3073C>T (p.Leu1025=) c.2590C>T (p.Leu864=) c.2485C>T (p.Leu829=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285028T>A | CA354161383 | CASR | c.2843T>A (p.Leu948Gln) c.3104T>A (p.Leu1035Gln) c.3074T>A (p.Leu1025Gln) c.2591T>A (p.Leu864Gln) c.2486T>A (p.Leu829Gln) | |
3 | g.122285028T>C | CA354161384 | CASR | c.2843T>C (p.Leu948Pro) c.3104T>C (p.Leu1035Pro) c.3074T>C (p.Leu1025Pro) c.2591T>C (p.Leu864Pro) c.2486T>C (p.Leu829Pro) | |
3 | g.122285028T>G | CA354161385 | CASR | c.2843T>G (p.Leu948Arg) c.3104T>G (p.Leu1035Arg) c.3074T>G (p.Leu1025Arg) c.2591T>G (p.Leu864Arg) c.2486T>G (p.Leu829Arg) | |
3 | g.122285029G>A | CA435425578 | CASR | c.2844G>A (p.Leu948=) c.3105G>A (p.Leu1035=) c.3075G>A (p.Leu1025=) c.2592G>A (p.Leu864=) c.2487G>A (p.Leu829=) | |
3 | g.122285029G>C | CA435425579 | CASR | c.2844G>C (p.Leu948=) c.3105G>C (p.Leu1035=) c.3075G>C (p.Leu1025=) c.2592G>C (p.Leu864=) c.2487G>C (p.Leu829=) | |
3 | g.122285029G>T | CA435425580 | CASR | c.2844G>T (p.Leu948=) c.3105G>T (p.Leu1035=) c.3075G>T (p.Leu1025=) c.2592G>T (p.Leu864=) c.2487G>T (p.Leu829=) | |
3 | g.122285030A>C | CA354161387 | CASR | c.2845A>C (p.Thr949Pro) c.3106A>C (p.Thr1036Pro) c.3076A>C (p.Thr1026Pro) c.2593A>C (p.Thr865Pro) c.2488A>C (p.Thr830Pro) | |
3 | g.122285030A>G | CA354161388 | CASR | c.2845A>G (p.Thr949Ala) c.3106A>G (p.Thr1036Ala) c.3076A>G (p.Thr1026Ala) c.2593A>G (p.Thr865Ala) c.2488A>G (p.Thr830Ala) | |
3 | g.122285030A>T | CA354161386 | CASR | c.2845A>T (p.Thr949Ser) c.3106A>T (p.Thr1036Ser) c.3076A>T (p.Thr1026Ser) c.2593A>T (p.Thr865Ser) c.2488A>T (p.Thr830Ser) | |
3 | g.122285031C>A | CA354161391 | CASR | c.2846C>A (p.Thr949Asn) c.3107C>A (p.Thr1036Asn) c.3077C>A (p.Thr1026Asn) c.2594C>A (p.Thr865Asn) c.2489C>A (p.Thr830Asn) | |
3 | g.122285031C>G | CA354161389 | CASR | c.2846C>G (p.Thr949Ser) c.3107C>G (p.Thr1036Ser) c.3077C>G (p.Thr1026Ser) c.2594C>G (p.Thr865Ser) c.2489C>G (p.Thr830Ser) | |
3 | g.122285031C>T | CA354161390 | CASR | c.2846C>T (p.Thr949Ile) c.3107C>T (p.Thr1036Ile) c.3077C>T (p.Thr1026Ile) c.2594C>T (p.Thr865Ile) c.2489C>T (p.Thr830Ile) | |
3 | g.122285032C>A | CA2569928 | CASR | c.2847C>A (p.Thr949=) c.3108C>A (p.Thr1036=) c.3078C>A (p.Thr1026=) c.2595C>A (p.Thr865=) c.2490C>A (p.Thr830=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122285032C= | CA1397873212 | CASR | c.2847C= (p.Thr949=) c.3108C= (p.Thr1036=) c.3078C= (p.Thr1026=) c.2595C= (p.Thr865=) c.2490C= (p.Thr830=) | |
3 | g.122285032C>G | CA435425581 | CASR | c.2847C>G (p.Thr949=) c.3108C>G (p.Thr1036=) c.3078C>G (p.Thr1026=) c.2595C>G (p.Thr865=) c.2490C>G (p.Thr830=) | gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285032C>T | CA435425582 | CASR | c.2847C>T (p.Thr949=) c.3108C>T (p.Thr1036=) c.3078C>T (p.Thr1026=) c.2595C>T (p.Thr865=) c.2490C>T (p.Thr830=) | gnomAD v4 COSMIC |
3 | g.122285033G>A | CA2569929 | CASR | c.2848G>A (p.Val950Ile) c.3109G>A (p.Val1037Ile) c.3079G>A (p.Val1027Ile) c.2596G>A (p.Val866Ile) c.2491G>A (p.Val831Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122285033G>C | CA354161392 | CASR | c.2848G>C (p.Val950Leu) c.3109G>C (p.Val1037Leu) c.3079G>C (p.Val1027Leu) c.2596G>C (p.Val866Leu) c.2491G>C (p.Val831Leu) | |
3 | g.122285033G= | CA1397873214 | CASR | c.2848G= (p.Val950=) c.3109G= (p.Val1037=) c.3079G= (p.Val1027=) c.2596G= (p.Val866=) c.2491G= (p.Val831=) | |
3 | g.122285033G>T | CA354161393 | CASR | c.2848G>T (p.Val950Phe) c.3109G>T (p.Val1037Phe) c.3079G>T (p.Val1027Phe) c.2596G>T (p.Val866Phe) c.2491G>T (p.Val831Phe) | |
3 | g.122285034T>A | CA354161394 | CASR | c.2849T>A (p.Val950Asp) c.3110T>A (p.Val1037Asp) c.3080T>A (p.Val1027Asp) c.2597T>A (p.Val866Asp) c.2492T>A (p.Val831Asp) | |
3 | g.122285034T>C | CA2569930 | CASR | c.2849T>C (p.Val950Ala) c.3110T>C (p.Val1037Ala) c.3080T>C (p.Val1027Ala) c.2597T>C (p.Val866Ala) c.2492T>C (p.Val831Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122285034T>G | CA354161395 | CASR | c.2849T>G (p.Val950Gly) c.3110T>G (p.Val1037Gly) c.3080T>G (p.Val1027Gly) c.2597T>G (p.Val866Gly) c.2492T>G (p.Val831Gly) | |
3 | g.122285034T= | CA1397873216 | CASR | c.2849T= (p.Val950=) c.3110T= (p.Val1037=) c.3080T= (p.Val1027=) c.2597T= (p.Val866=) c.2492T= (p.Val831=) | |
3 | g.122285035C>A | CA435425583 | CASR | c.2850C>A (p.Val950=) c.3111C>A (p.Val1037=) c.3081C>A (p.Val1027=) c.2598C>A (p.Val866=) c.2493C>A (p.Val831=) | |
3 | g.122285035C>G | CA435425584 | CASR | c.2850C>G (p.Val950=) c.3111C>G (p.Val1037=) c.3081C>G (p.Val1027=) c.2598C>G (p.Val866=) c.2493C>G (p.Val831=) | |
3 | g.122285035C>T | CA435425585 | CASR | c.2850C>T (p.Val950=) c.3111C>T (p.Val1037=) c.3081C>T (p.Val1027=) c.2598C>T (p.Val866=) c.2493C>T (p.Val831=) | |
3 | g.122285036del | CA2499216417 | CASR | c.2851del (p.Gln951ArgfsTer28) c.3112del (p.Gln1038ArgfsTer28) c.3082del (p.Gln1028ArgfsTer28) c.2599del (p.Gln867ArgfsTer28) c.2494del (p.Gln832ArgfsTer28) | ClinVar dbSNP |
3 | g.122285036C>A | CA354161396 | CASR | c.2851C>A (p.Gln951Lys) c.3112C>A (p.Gln1038Lys) c.3082C>A (p.Gln1028Lys) c.2599C>A (p.Gln867Lys) c.2494C>A (p.Gln832Lys) | |
3 | g.122285036C= | CA1397873218 | CASR | c.2851C= (p.Gln951=) c.3112C= (p.Gln1038=) c.3082C= (p.Gln1028=) c.2599C= (p.Gln867=) c.2494C= (p.Gln832=) | |
3 | g.122285036C>G | CA354161397 | CASR | c.2851C>G (p.Gln951Glu) c.3112C>G (p.Gln1038Glu) c.3082C>G (p.Gln1028Glu) c.2599C>G (p.Gln867Glu) c.2494C>G (p.Gln832Glu) | |
3 | g.122285036C>T | CA354161398 | CASR | c.2851C>T (p.Gln951Ter) c.3112C>T (p.Gln1038Ter) c.3082C>T (p.Gln1028Ter) c.2599C>T (p.Gln867Ter) c.2494C>T (p.Gln832Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122285037A= | CA1397873220 | CASR | c.2852A= (p.Gln951=) c.3113A= (p.Gln1038=) c.3083A= (p.Gln1028=) c.2600A= (p.Gln867=) c.2495A= (p.Gln832=) | |
3 | g.122285037A>C | CA354161400 | CASR | c.2852A>C (p.Gln951Pro) c.3113A>C (p.Gln1038Pro) c.3083A>C (p.Gln1028Pro) c.2600A>C (p.Gln867Pro) c.2495A>C (p.Gln832Pro) | |
3 | g.122285037A>G | CA354161401 | CASR | c.2852A>G (p.Gln951Arg) c.3113A>G (p.Gln1038Arg) c.3083A>G (p.Gln1028Arg) c.2600A>G (p.Gln867Arg) c.2495A>G (p.Gln832Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.122285037A>T | CA354161399 | CASR | c.2852A>T (p.Gln951Leu) c.3113A>T (p.Gln1038Leu) c.3083A>T (p.Gln1028Leu) c.2600A>T (p.Gln867Leu) c.2495A>T (p.Gln832Leu) | |
3 | g.122285038G>A | CA435425586 | CASR | c.2853G>A (p.Gln951=) c.3114G>A (p.Gln1038=) c.3084G>A (p.Gln1028=) c.2601G>A (p.Gln867=) c.2496G>A (p.Gln832=) | gnomAD v4 |
3 | g.122285038G>C | CA354161402 | CASR | c.2853G>C (p.Gln951His) c.3114G>C (p.Gln1038His) c.3084G>C (p.Gln1028His) c.2601G>C (p.Gln867His) c.2496G>C (p.Gln832His) | |
3 | g.122285038G>T | CA354161403 | CASR | c.2853G>T (p.Gln951His) c.3114G>T (p.Gln1038His) c.3084G>T (p.Gln1028His) c.2601G>T (p.Gln867His) c.2496G>T (p.Gln832His) | |
3 | g.122285039G>A | CA354161404 | CASR | c.2854G>A (p.Glu952Lys) c.3115G>A (p.Glu1039Lys) c.3085G>A (p.Glu1029Lys) c.2602G>A (p.Glu868Lys) c.2497G>A (p.Glu833Lys) | ClinVar dbSNP COSMIC |
3 | g.122285039G>C | CA354161405 | CASR | c.2854G>C (p.Glu952Gln) c.3115G>C (p.Glu1039Gln) c.3085G>C (p.Glu1029Gln) c.2602G>C (p.Glu868Gln) c.2497G>C (p.Glu833Gln) | |
3 | g.122285039G>T | CA354161406 | CASR | c.2854G>T (p.Glu952Ter) c.3115G>T (p.Glu1039Ter) c.3085G>T (p.Glu1029Ter) c.2602G>T (p.Glu868Ter) c.2497G>T (p.Glu833Ter) | |
3 | g.122285040A>C | CA354161409 | CASR | c.2855A>C (p.Glu952Ala) c.3116A>C (p.Glu1039Ala) c.3086A>C (p.Glu1029Ala) c.2603A>C (p.Glu868Ala) c.2498A>C (p.Glu833Ala) | ClinVar dbSNP |
3 | g.122285040A>G | CA354161407 | CASR | c.2855A>G (p.Glu952Gly) c.3116A>G (p.Glu1039Gly) c.3086A>G (p.Glu1029Gly) c.2603A>G (p.Glu868Gly) c.2498A>G (p.Glu833Gly) | ClinVar gnomAD v4 |
3 | g.122285040A>T | CA354161408 | CASR | c.2855A>T (p.Glu952Val) c.3116A>T (p.Glu1039Val) c.3086A>T (p.Glu1029Val) c.2603A>T (p.Glu868Val) c.2498A>T (p.Glu833Val) | |
3 | g.122285042dup | CA2573136469 | CASR | c.2857dup (p.Thr953AsnfsTer19) c.3118dup (p.Thr1040AsnfsTer19) c.3088dup (p.Thr1030AsnfsTer19) c.2605dup (p.Thr869AsnfsTer19) c.2500dup (p.Thr834AsnfsTer19) | ClinVar dbSNP |
3 | g.122285041A= | CA1397873222 | CASR | c.2856A= (p.Glu952=) c.3117A= (p.Glu1039=) c.3087A= (p.Glu1029=) c.2604A= (p.Glu868=) c.2499A= (p.Glu833=) | |
3 | g.122285041A>C | CA354161410 | CASR | c.2856A>C (p.Glu952Asp) c.3117A>C (p.Glu1039Asp) c.3087A>C (p.Glu1029Asp) c.2604A>C (p.Glu868Asp) c.2499A>C (p.Glu833Asp) | |
3 | g.122285041A>G | CA435425587 | CASR | c.2856A>G (p.Glu952=) c.3117A>G (p.Glu1039=) c.3087A>G (p.Glu1029=) c.2604A>G (p.Glu868=) c.2499A>G (p.Glu833=) | gnomAD v3 gnomAD v4 |
3 | g.122285041A>T | CA2569931 | CASR | c.2856A>T (p.Glu952Asp) c.3117A>T (p.Glu1039Asp) c.3087A>T (p.Glu1029Asp) c.2604A>T (p.Glu868Asp) c.2499A>T (p.Glu833Asp) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.122285042A= | CA1397873223 | CASR | c.2857A= (p.Thr953=) c.3118A= (p.Thr1040=) c.3088A= (p.Thr1030=) c.2605A= (p.Thr869=) c.2500A= (p.Thr834=) | |
3 | g.122285042A>C | CA354161411 | CASR | c.2857A>C (p.Thr953Pro) c.3118A>C (p.Thr1040Pro) c.3088A>C (p.Thr1030Pro) c.2605A>C (p.Thr869Pro) c.2500A>C (p.Thr834Pro) | |
3 | g.122285042A>G | CA354161412 | CASR | c.2857A>G (p.Thr953Ala) c.3118A>G (p.Thr1040Ala) c.3088A>G (p.Thr1030Ala) c.2605A>G (p.Thr869Ala) c.2500A>G (p.Thr834Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.122285042A>T | CA354161413 | CASR | c.2857A>T (p.Thr953Ser) c.3118A>T (p.Thr1040Ser) c.3088A>T (p.Thr1030Ser) c.2605A>T (p.Thr869Ser) c.2500A>T (p.Thr834Ser) | |
3 | g.122285043C>A | CA354161416 | CASR | c.2858C>A (p.Thr953Lys) c.3119C>A (p.Thr1040Lys) c.3089C>A (p.Thr1030Lys) c.2606C>A (p.Thr869Lys) c.2501C>A (p.Thr834Lys) | |
3 | g.122285043C>G | CA354161415 | CASR | c.2858C>G (p.Thr953Arg) c.3119C>G (p.Thr1040Arg) c.3089C>G (p.Thr1030Arg) c.2606C>G (p.Thr869Arg) c.2501C>G (p.Thr834Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.122285043C>T | CA354161414 | CASR | c.2858C>T (p.Thr953Ile) c.3119C>T (p.Thr1040Ile) c.3089C>T (p.Thr1030Ile) c.2606C>T (p.Thr869Ile) c.2501C>T (p.Thr834Ile) | ClinVar |
3 | g.122285044A>C | CA435425588 | CASR | c.2859A>C (p.Thr953=) c.3120A>C (p.Thr1040=) c.3090A>C (p.Thr1030=) c.2607A>C (p.Thr869=) c.2502A>C (p.Thr834=) | |
3 | g.122285044A>G | CA435425589 | CASR | c.2859A>G (p.Thr953=) c.3120A>G (p.Thr1040=) c.3090A>G (p.Thr1030=) c.2607A>G (p.Thr869=) c.2502A>G (p.Thr834=) | ClinVar |
3 | g.122285044A>T | CA435425590 | CASR | c.2859A>T (p.Thr953=) c.3120A>T (p.Thr1040=) c.3090A>T (p.Thr1030=) c.2607A>T (p.Thr869=) c.2502A>T (p.Thr834=) | |
3 | g.122285045G>A | CA213597 | CASR | c.2860G>A (p.Gly954Ser) c.3121G>A (p.Gly1041Ser) c.3091G>A (p.Gly1031Ser) c.2608G>A (p.Gly870Ser) c.2503G>A (p.Gly835Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285045G>C | CA354161417 | CASR | c.2860G>C (p.Gly954Arg) c.3121G>C (p.Gly1041Arg) c.3091G>C (p.Gly1031Arg) c.2608G>C (p.Gly870Arg) c.2503G>C (p.Gly835Arg) | dbSNP |
3 | g.122285045G= | CA1397873224 | CASR | c.2860G= (p.Gly954=) c.3121G= (p.Gly1041=) c.3091G= (p.Gly1031=) c.2608G= (p.Gly870=) c.2503G= (p.Gly835=) | |
3 | g.122285045G>T | CA354161418 | CASR | c.2860G>T (p.Gly954Cys) c.3121G>T (p.Gly1041Cys) c.3091G>T (p.Gly1031Cys) c.2608G>T (p.Gly870Cys) c.2503G>T (p.Gly835Cys) | |
3 | g.122285046G>A | CA82749549 | CASR | c.2861G>A (p.Gly954Asp) c.3122G>A (p.Gly1041Asp) c.3092G>A (p.Gly1031Asp) c.2609G>A (p.Gly870Asp) c.2504G>A (p.Gly835Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285046G>C | CA354161419 | CASR | c.2861G>C (p.Gly954Ala) c.3122G>C (p.Gly1041Ala) c.3092G>C (p.Gly1031Ala) c.2609G>C (p.Gly870Ala) c.2504G>C (p.Gly835Ala) | |
3 | g.122285046G= | CA1397873226 | CASR | c.2861G= (p.Gly954=) c.3122G= (p.Gly1041=) c.3092G= (p.Gly1031=) c.2609G= (p.Gly870=) c.2504G= (p.Gly835=) | |
3 | g.122285046G>T | CA354161420 | CASR | c.2861G>T (p.Gly954Val) c.3122G>T (p.Gly1041Val) c.3092G>T (p.Gly1031Val) c.2609G>T (p.Gly870Val) c.2504G>T (p.Gly835Val) | |
3 | g.122285047T>A | CA435425591 | CASR | c.2862T>A (p.Gly954=) c.3123T>A (p.Gly1041=) c.3093T>A (p.Gly1031=) c.2610T>A (p.Gly870=) c.2505T>A (p.Gly835=) | ClinVar |
3 | g.122285047T>C | CA435425592 | CASR | c.2862T>C (p.Gly954=) c.3123T>C (p.Gly1041=) c.3093T>C (p.Gly1031=) c.2610T>C (p.Gly870=) c.2505T>C (p.Gly835=) | ClinVar dbSNP |
3 | g.122285047T>G | CA435425593 | CASR | c.2862T>G (p.Gly954=) c.3123T>G (p.Gly1041=) c.3093T>G (p.Gly1031=) c.2610T>G (p.Gly870=) c.2505T>G (p.Gly835=) | |
3 | g.122285047T= | CA1397873228 | CASR | c.2862T= (p.Gly954=) c.3123T= (p.Gly1041=) c.3093T= (p.Gly1031=) c.2610T= (p.Gly870=) c.2505T= (p.Gly835=) | |
3 | g.122285048C>A | CA354161422 | CASR | c.2863C>A (p.Leu955Met) c.3124C>A (p.Leu1042Met) c.3094C>A (p.Leu1032Met) c.2611C>A (p.Leu871Met) c.2506C>A (p.Leu836Met) | |
3 | g.122285048C>G | CA354161421 | CASR | c.2863C>G (p.Leu955Val) c.3124C>G (p.Leu1042Val) c.3094C>G (p.Leu1032Val) c.2611C>G (p.Leu871Val) c.2506C>G (p.Leu836Val) | |
3 | g.122285048C>T | CA435425594 | CASR | c.2863C>T (p.Leu955=) c.3124C>T (p.Leu1042=) c.3094C>T (p.Leu1032=) c.2611C>T (p.Leu871=) c.2506C>T (p.Leu836=) | |
3 | g.122285049T>A | CA354161423 | CASR | c.2864T>A (p.Leu955Gln) c.3125T>A (p.Leu1042Gln) c.3095T>A (p.Leu1032Gln) c.2612T>A (p.Leu871Gln) c.2507T>A (p.Leu836Gln) | |
3 | g.122285049T>C | CA354161424 | CASR | c.2864T>C (p.Leu955Pro) c.3125T>C (p.Leu1042Pro) c.3095T>C (p.Leu1032Pro) c.2612T>C (p.Leu871Pro) c.2507T>C (p.Leu836Pro) | |
3 | g.122285049T>G | CA354161425 | CASR | c.2864T>G (p.Leu955Arg) c.3125T>G (p.Leu1042Arg) c.3095T>G (p.Leu1032Arg) c.2612T>G (p.Leu871Arg) c.2507T>G (p.Leu836Arg) | gnomAD v4 COSMIC |
3 | g.122285050G>A | CA435425595 | CASR | c.2865G>A (p.Leu955=) c.3126G>A (p.Leu1042=) c.3096G>A (p.Leu1032=) c.2613G>A (p.Leu871=) c.2508G>A (p.Leu836=) | ClinVar |
3 | g.122285050G>C | CA435425596 | CASR | c.2865G>C (p.Leu955=) c.3126G>C (p.Leu1042=) c.3096G>C (p.Leu1032=) c.2613G>C (p.Leu871=) c.2508G>C (p.Leu836=) | |
3 | g.122285050G>T | CA435425597 | CASR | c.2865G>T (p.Leu955=) c.3126G>T (p.Leu1042=) c.3096G>T (p.Leu1032=) c.2613G>T (p.Leu871=) c.2508G>T (p.Leu836=) | ClinVar dbSNP |
3 | g.122285051C>A | CA354161426 | CASR | c.2866C>A (p.Gln956Lys) c.3127C>A (p.Gln1043Lys) c.3097C>A (p.Gln1033Lys) c.2614C>A (p.Gln872Lys) c.2509C>A (p.Gln837Lys) | |
3 | g.122285051C>G | CA354161427 | CASR | c.2866C>G (p.Gln956Glu) c.3127C>G (p.Gln1043Glu) c.3097C>G (p.Gln1033Glu) c.2614C>G (p.Gln872Glu) c.2509C>G (p.Gln837Glu) | |
3 | g.122285051C>T | CA354161428 | CASR | c.2866C>T (p.Gln956Ter) c.3127C>T (p.Gln1043Ter) c.3097C>T (p.Gln1033Ter) c.2614C>T (p.Gln872Ter) c.2509C>T (p.Gln837Ter) | |
3 | g.122285052A>C | CA354161429 | CASR | c.2867A>C (p.Gln956Pro) c.3128A>C (p.Gln1043Pro) c.3098A>C (p.Gln1033Pro) c.2615A>C (p.Gln872Pro) c.2510A>C (p.Gln837Pro) | |
3 | g.122285052A>G | CA354161431 | CASR | c.2867A>G (p.Gln956Arg) c.3128A>G (p.Gln1043Arg) c.3098A>G (p.Gln1033Arg) c.2615A>G (p.Gln872Arg) c.2510A>G (p.Gln837Arg) | |
3 | g.122285052A>T | CA354161430 | CASR | c.2867A>T (p.Gln956Leu) c.3128A>T (p.Gln1043Leu) c.3098A>T (p.Gln1033Leu) c.2615A>T (p.Gln872Leu) c.2510A>T (p.Gln837Leu) | |
3 | g.122285053A>C | CA354161432 | CASR | c.2868A>C (p.Gln956His) c.3129A>C (p.Gln1043His) c.3099A>C (p.Gln1033His) c.2616A>C (p.Gln872His) c.2511A>C (p.Gln837His) | |
3 | g.122285053A>G | CA435425598 | CASR | c.2868A>G (p.Gln956=) c.3129A>G (p.Gln1043=) c.3099A>G (p.Gln1033=) c.2616A>G (p.Gln872=) c.2511A>G (p.Gln837=) | |
3 | g.122285053A>T | CA354161433 | CASR | c.2868A>T (p.Gln956His) c.3129A>T (p.Gln1043His) c.3099A>T (p.Gln1033His) c.2616A>T (p.Gln872His) c.2511A>T (p.Gln837His) | |
3 | g.122285054G>A | CA354161434 | CASR | c.2869G>A (p.Gly957Arg) c.3130G>A (p.Gly1044Arg) c.3100G>A (p.Gly1034Arg) c.2617G>A (p.Gly873Arg) c.2512G>A (p.Gly838Arg) | ClinVar |
3 | g.122285054G>C | CA354161435 | CASR | c.2869G>C (p.Gly957Arg) c.3130G>C (p.Gly1044Arg) c.3100G>C (p.Gly1034Arg) c.2617G>C (p.Gly873Arg) c.2512G>C (p.Gly838Arg) | |
3 | g.122285054G>T | CA354161436 | CASR | c.2869G>T (p.Gly957Ter) c.3130G>T (p.Gly1044Ter) c.3100G>T (p.Gly1034Ter) c.2617G>T (p.Gly873Ter) c.2512G>T (p.Gly838Ter) | |
3 | g.122285055G>A | CA354161437 | CASR | c.2870G>A (p.Gly957Glu) c.3131G>A (p.Gly1044Glu) c.3101G>A (p.Gly1034Glu) c.2618G>A (p.Gly873Glu) c.2513G>A (p.Gly838Glu) | COSMIC |
3 | g.122285055G>C | CA354161438 | CASR | c.2870G>C (p.Gly957Ala) c.3131G>C (p.Gly1044Ala) c.3101G>C (p.Gly1034Ala) c.2618G>C (p.Gly873Ala) c.2513G>C (p.Gly838Ala) | |
3 | g.122285055G>T | CA354161439 | CASR | c.2870G>T (p.Gly957Val) c.3131G>T (p.Gly1044Val) c.3101G>T (p.Gly1034Val) c.2618G>T (p.Gly873Val) c.2513G>T (p.Gly838Val) | ClinVar |
3 | g.122285056A>C | CA435425599 | CASR | c.2871A>C (p.Gly957=) c.3132A>C (p.Gly1044=) c.3102A>C (p.Gly1034=) c.2619A>C (p.Gly873=) c.2514A>C (p.Gly838=) | |
3 | g.122285056A>G | CA435425600 | CASR | c.2871A>G (p.Gly957=) c.3132A>G (p.Gly1044=) c.3102A>G (p.Gly1034=) c.2619A>G (p.Gly873=) c.2514A>G (p.Gly838=) | |
3 | g.122285056A>T | CA435425601 | CASR | c.2871A>T (p.Gly957=) c.3132A>T (p.Gly1044=) c.3102A>T (p.Gly1034=) c.2619A>T (p.Gly873=) c.2514A>T (p.Gly838=) | |
3 | g.122285057C>A | CA354161440 | CASR | c.2872C>A (p.Pro958Thr) c.3133C>A (p.Pro1045Thr) c.3103C>A (p.Pro1035Thr) c.2620C>A (p.Pro874Thr) c.2515C>A (p.Pro839Thr) | |
3 | g.122285057C= | CA1397873230 | CASR | c.2872C= (p.Pro958=) c.3133C= (p.Pro1045=) c.3103C= (p.Pro1035=) c.2620C= (p.Pro874=) c.2515C= (p.Pro839=) | |
3 | g.122285057C>G | CA354161441 | CASR | c.2872C>G (p.Pro958Ala) c.3133C>G (p.Pro1045Ala) c.3103C>G (p.Pro1035Ala) c.2620C>G (p.Pro874Ala) c.2515C>G (p.Pro839Ala) | |
3 | g.122285057C>T | CA2569932 | CASR | c.2872C>T (p.Pro958Ser) c.3133C>T (p.Pro1045Ser) c.3103C>T (p.Pro1035Ser) c.2620C>T (p.Pro874Ser) c.2515C>T (p.Pro839Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122285058del | CA2586972878 | CASR | c.2873del (p.Pro958LeufsTer21) c.3134del (p.Pro1045LeufsTer21) c.3104del (p.Pro1035LeufsTer21) c.2621del (p.Pro874LeufsTer21) c.2516del (p.Pro839LeufsTer21) | |
3 | g.122285058C>A | CA354161444 | CASR | c.2873C>A (p.Pro958His) c.3134C>A (p.Pro1045His) c.3104C>A (p.Pro1035His) c.2621C>A (p.Pro874His) c.2516C>A (p.Pro839His) | ClinVar gnomAD v4 |
3 | g.122285058C= | CA1397873232 | CASR | c.2873C= (p.Pro958=) c.3134C= (p.Pro1045=) c.3104C= (p.Pro1035=) c.2621C= (p.Pro874=) c.2516C= (p.Pro839=) | |
3 | g.122285058C>G | CA354161443 | CASR | c.2873C>G (p.Pro958Arg) c.3134C>G (p.Pro1045Arg) c.3104C>G (p.Pro1035Arg) c.2621C>G (p.Pro874Arg) c.2516C>G (p.Pro839Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122285058C>T | CA354161442 | CASR | c.2873C>T (p.Pro958Leu) c.3134C>T (p.Pro1045Leu) c.3104C>T (p.Pro1035Leu) c.2621C>T (p.Pro874Leu) c.2516C>T (p.Pro839Leu) | gnomAD v4 |
3 | g.122285059T>A | CA435425602 | CASR | c.2874T>A (p.Pro958=) c.3135T>A (p.Pro1045=) c.3105T>A (p.Pro1035=) c.2622T>A (p.Pro874=) c.2517T>A (p.Pro839=) | |
3 | g.122285059T>C | CA435425603 | CASR | c.2874T>C (p.Pro958=) c.3135T>C (p.Pro1045=) c.3105T>C (p.Pro1035=) c.2622T>C (p.Pro874=) c.2517T>C (p.Pro839=) | |
3 | g.122285059T>G | CA435425604 | CASR | c.2874T>G (p.Pro958=) c.3135T>G (p.Pro1045=) c.3105T>G (p.Pro1035=) c.2622T>G (p.Pro874=) c.2517T>G (p.Pro839=) | |
3 | g.122285060G>A | CA354161445 | CASR | c.2875G>A (p.Val959Met) c.3136G>A (p.Val1046Met) c.3106G>A (p.Val1036Met) c.2623G>A (p.Val875Met) c.2518G>A (p.Val840Met) | ClinVar |
3 | g.122285060G>C | CA354161447 | CASR | c.2875G>C (p.Val959Leu) c.3136G>C (p.Val1046Leu) c.3106G>C (p.Val1036Leu) c.2623G>C (p.Val875Leu) c.2518G>C (p.Val840Leu) | |
3 | g.122285060G>T | CA354161446 | CASR | c.2875G>T (p.Val959Leu) c.3136G>T (p.Val1046Leu) c.3106G>T (p.Val1036Leu) c.2623G>T (p.Val875Leu) c.2518G>T (p.Val840Leu) | |
3 | g.122285061T>A | CA354161448 | CASR | c.2876T>A (p.Val959Glu) c.3137T>A (p.Val1046Glu) c.3107T>A (p.Val1036Glu) c.2624T>A (p.Val875Glu) c.2519T>A (p.Val840Glu) | |
3 | g.122285061T>C | CA216136 | CASR | c.2876T>C (p.Val959Ala) c.3137T>C (p.Val1046Ala) c.3107T>C (p.Val1036Ala) c.2624T>C (p.Val875Ala) c.2519T>C (p.Val840Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.122285061T>G | CA354161449 | CASR | c.2876T>G (p.Val959Gly) c.3137T>G (p.Val1046Gly) c.3107T>G (p.Val1036Gly) c.2624T>G (p.Val875Gly) c.2519T>G (p.Val840Gly) | |
3 | g.122285061T= | CA1397873234 | CASR | c.2876T= (p.Val959=) c.3137T= (p.Val1046=) c.3107T= (p.Val1036=) c.2624T= (p.Val875=) c.2519T= (p.Val840=) | |
3 | g.122285062G>A | CA435425605 | CASR | c.2877G>A (p.Val959=) c.3138G>A (p.Val1046=) c.3108G>A (p.Val1036=) c.2625G>A (p.Val875=) c.2520G>A (p.Val840=) | ClinVar gnomAD v4 |
3 | g.122285062G>C | CA435425606 | CASR | c.2877G>C (p.Val959=) c.3138G>C (p.Val1046=) c.3108G>C (p.Val1036=) c.2625G>C (p.Val875=) c.2520G>C (p.Val840=) | |
3 | g.122285062G>T | CA435425607 | CASR | c.2877G>T (p.Val959=) c.3138G>T (p.Val1046=) c.3108G>T (p.Val1036=) c.2625G>T (p.Val875=) c.2520G>T (p.Val840=) | |
3 | g.122285063G>A | CA354161450 | CASR | c.2878G>A (p.Gly960Ser) c.3139G>A (p.Gly1047Ser) c.3109G>A (p.Gly1037Ser) c.2626G>A (p.Gly876Ser) c.2521G>A (p.Gly841Ser) | |
3 | g.122285063G>C | CA354161451 | CASR | c.2878G>C (p.Gly960Arg) c.3139G>C (p.Gly1047Arg) c.3109G>C (p.Gly1037Arg) c.2626G>C (p.Gly876Arg) c.2521G>C (p.Gly841Arg) | |
3 | g.122285063G>T | CA354161452 | CASR | c.2878G>T (p.Gly960Cys) c.3139G>T (p.Gly1047Cys) c.3109G>T (p.Gly1037Cys) c.2626G>T (p.Gly876Cys) c.2521G>T (p.Gly841Cys) | gnomAD v4 |
3 | g.122285064G>A | CA354161453 | CASR | c.2879G>A (p.Gly960Asp) c.3140G>A (p.Gly1047Asp) c.3110G>A (p.Gly1037Asp) c.2627G>A (p.Gly876Asp) c.2522G>A (p.Gly841Asp) | |
3 | g.122285064G>C | CA354161454 | CASR | c.2879G>C (p.Gly960Ala) c.3140G>C (p.Gly1047Ala) c.3110G>C (p.Gly1037Ala) c.2627G>C (p.Gly876Ala) c.2522G>C (p.Gly841Ala) | |
3 | g.122285064G= | CA1397873237 | CASR | c.2879G= (p.Gly960=) c.3140G= (p.Gly1047=) c.3110G= (p.Gly1037=) c.2627G= (p.Gly876=) c.2522G= (p.Gly841=) | |
3 | g.122285064G>T | CA354161455 | CASR | c.2879G>T (p.Gly960Val) c.3140G>T (p.Gly1047Val) c.3110G>T (p.Gly1037Val) c.2627G>T (p.Gly876Val) c.2522G>T (p.Gly841Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285065T>A | CA435425608 | CASR | c.2880T>A (p.Gly960=) c.3141T>A (p.Gly1047=) c.3111T>A (p.Gly1037=) c.2628T>A (p.Gly876=) c.2523T>A (p.Gly841=) | |
3 | g.122285065T>C | CA435425609 | CASR | c.2880T>C (p.Gly960=) c.3141T>C (p.Gly1047=) c.3111T>C (p.Gly1037=) c.2628T>C (p.Gly876=) c.2523T>C (p.Gly841=) | |
3 | g.122285065T>G | CA435425610 | CASR | c.2880T>G (p.Gly960=) c.3141T>G (p.Gly1047=) c.3111T>G (p.Gly1037=) c.2628T>G (p.Gly876=) c.2523T>G (p.Gly841=) | |
3 | g.122285066G>A | CA2569933 | CASR | c.2881G>A (p.Gly961Arg) c.3142G>A (p.Gly1048Arg) c.3112G>A (p.Gly1038Arg) c.2629G>A (p.Gly877Arg) c.2524G>A (p.Gly842Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285066G>C | CA354161456 | CASR | c.2881G>C (p.Gly961Arg) c.3142G>C (p.Gly1048Arg) c.3112G>C (p.Gly1038Arg) c.2629G>C (p.Gly877Arg) c.2524G>C (p.Gly842Arg) | |
3 | g.122285066G= | CA1397873239 | CASR | c.2881G= (p.Gly961=) c.3142G= (p.Gly1048=) c.3112G= (p.Gly1038=) c.2629G= (p.Gly877=) c.2524G= (p.Gly842=) | |
3 | g.122285066G>T | CA354161457 | CASR | c.2881G>T (p.Gly961Ter) c.3142G>T (p.Gly1048Ter) c.3112G>T (p.Gly1038Ter) c.2629G>T (p.Gly877Ter) c.2524G>T (p.Gly842Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.122285067G>A | CA354161458 | CASR | c.2882G>A (p.Gly961Glu) c.3143G>A (p.Gly1048Glu) c.3113G>A (p.Gly1038Glu) c.2630G>A (p.Gly877Glu) c.2525G>A (p.Gly842Glu) | |
3 | g.122285067G>C | CA354161459 | CASR | c.2882G>C (p.Gly961Ala) c.3143G>C (p.Gly1048Ala) c.3113G>C (p.Gly1038Ala) c.2630G>C (p.Gly877Ala) c.2525G>C (p.Gly842Ala) | |
3 | g.122285067G>T | CA354161460 | CASR | c.2882G>T (p.Gly961Val) c.3143G>T (p.Gly1048Val) c.3113G>T (p.Gly1038Val) c.2630G>T (p.Gly877Val) c.2525G>T (p.Gly842Val) | |
3 | g.122285068A>C | CA435425611 | CASR | c.2883A>C (p.Gly961=) c.3144A>C (p.Gly1048=) c.3114A>C (p.Gly1038=) c.2631A>C (p.Gly877=) c.2526A>C (p.Gly842=) | |
3 | g.122285068A>G | CA435425612 | CASR | c.2883A>G (p.Gly961=) c.3144A>G (p.Gly1048=) c.3114A>G (p.Gly1038=) c.2631A>G (p.Gly877=) c.2526A>G (p.Gly842=) | ClinVar dbSNP |
3 | g.122285068A>T | CA435425613 | CASR | c.2883A>T (p.Gly961=) c.3144A>T (p.Gly1048=) c.3114A>T (p.Gly1038=) c.2631A>T (p.Gly877=) c.2526A>T (p.Gly842=) | |
3 | g.122285069G>A | CA354161463 | CASR | c.2884G>A (p.Asp962Asn) c.3145G>A (p.Asp1049Asn) c.3115G>A (p.Asp1039Asn) c.2632G>A (p.Asp878Asn) c.2527G>A (p.Asp843Asn) | |
3 | g.122285069G>C | CA354161461 | CASR | c.2884G>C (p.Asp962His) c.3145G>C (p.Asp1049His) c.3115G>C (p.Asp1039His) c.2632G>C (p.Asp878His) c.2527G>C (p.Asp843His) | dbSNP gnomAD v2 |
3 | g.122285069G= | CA1397873241 | CASR | c.2884G= (p.Asp962=) c.3145G= (p.Asp1049=) c.3115G= (p.Asp1039=) c.2632G= (p.Asp878=) c.2527G= (p.Asp843=) | |
3 | g.122285069G>T | CA354161462 | CASR | c.2884G>T (p.Asp962Tyr) c.3145G>T (p.Asp1049Tyr) c.3115G>T (p.Asp1039Tyr) c.2632G>T (p.Asp878Tyr) c.2527G>T (p.Asp843Tyr) | |
3 | g.122285070A>C | CA354161464 | CASR | c.2885A>C (p.Asp962Ala) c.3146A>C (p.Asp1049Ala) c.3116A>C (p.Asp1039Ala) c.2633A>C (p.Asp878Ala) c.2528A>C (p.Asp843Ala) | |
3 | g.122285070A>G | CA354161465 | CASR | c.2885A>G (p.Asp962Gly) c.3146A>G (p.Asp1049Gly) c.3116A>G (p.Asp1039Gly) c.2633A>G (p.Asp878Gly) c.2528A>G (p.Asp843Gly) | |
3 | g.122285070A>T | CA354161466 | CASR | c.2885A>T (p.Asp962Val) c.3146A>T (p.Asp1049Val) c.3116A>T (p.Asp1039Val) c.2633A>T (p.Asp878Val) c.2528A>T (p.Asp843Val) | |
3 | g.122285071C>A | CA354161467 | CASR | c.2886C>A (p.Asp962Glu) c.3147C>A (p.Asp1049Glu) c.3117C>A (p.Asp1039Glu) c.2634C>A (p.Asp878Glu) c.2529C>A (p.Asp843Glu) | gnomAD v4 |
3 | g.122285071C>G | CA354161468 | CASR | c.2886C>G (p.Asp962Glu) c.3147C>G (p.Asp1049Glu) c.3117C>G (p.Asp1039Glu) c.2634C>G (p.Asp878Glu) c.2529C>G (p.Asp843Glu) | ClinVar |
3 | g.122285071C>T | CA435425614 | CASR | c.2886C>T (p.Asp962=) c.3147C>T (p.Asp1049=) c.3117C>T (p.Asp1039=) c.2634C>T (p.Asp878=) c.2529C>T (p.Asp843=) | ClinVar |
3 | g.122285072C>A | CA354161469 | CASR | c.2887C>A (p.Gln963Lys) c.3148C>A (p.Gln1050Lys) c.3118C>A (p.Gln1040Lys) c.2635C>A (p.Gln879Lys) c.2530C>A (p.Gln844Lys) | ClinVar |
3 | g.122285072C= | CA1397873243 | CASR | c.2887C= (p.Gln963=) c.3148C= (p.Gln1050=) c.3118C= (p.Gln1040=) c.2635C= (p.Gln879=) c.2530C= (p.Gln844=) | |
3 | g.122285072C>G | CA82749561 | CASR | c.2887C>G (p.Gln963Glu) c.3148C>G (p.Gln1050Glu) c.3118C>G (p.Gln1040Glu) c.2635C>G (p.Gln879Glu) c.2530C>G (p.Gln844Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122285072C>T | CA354161470 | CASR | c.2887C>T (p.Gln963Ter) c.3148C>T (p.Gln1050Ter) c.3118C>T (p.Gln1040Ter) c.2635C>T (p.Gln879Ter) c.2530C>T (p.Gln844Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.122285073A>C | CA354161472 | CASR | c.2888A>C (p.Gln963Pro) c.3149A>C (p.Gln1050Pro) c.3119A>C (p.Gln1040Pro) c.2636A>C (p.Gln879Pro) c.2531A>C (p.Gln844Pro) | |
3 | g.122285073A>G | CA354161474 | CASR | c.2888A>G (p.Gln963Arg) c.3149A>G (p.Gln1050Arg) c.3119A>G (p.Gln1040Arg) c.2636A>G (p.Gln879Arg) c.2531A>G (p.Gln844Arg) | |
3 | g.122285073A>T | CA354161475 | CASR | c.2888A>T (p.Gln963Leu) c.3149A>T (p.Gln1050Leu) c.3119A>T (p.Gln1040Leu) c.2636A>T (p.Gln879Leu) c.2531A>T (p.Gln844Leu) | |
3 | g.122285074G>A | CA435425615 | CASR | c.2889G>A (p.Gln963=) c.3150G>A (p.Gln1050=) c.3120G>A (p.Gln1040=) c.2637G>A (p.Gln879=) c.2532G>A (p.Gln844=) | ClinVar |
3 | g.122285074G>C | CA354161477 | CASR | c.2889G>C (p.Gln963His) c.3150G>C (p.Gln1050His) c.3120G>C (p.Gln1040His) c.2637G>C (p.Gln879His) c.2532G>C (p.Gln844His) | |
3 | g.122285074G>T | CA354161478 | CASR | c.2889G>T (p.Gln963His) c.3150G>T (p.Gln1050His) c.3120G>T (p.Gln1040His) c.2637G>T (p.Gln879His) c.2532G>T (p.Gln844His) | ClinVar dbSNP |
3 | g.122285075C>A | CA435425616 | CASR | c.2890C>A (p.Arg964=) c.3151C>A (p.Arg1051=) c.3121C>A (p.Arg1041=) c.2638C>A (p.Arg880=) c.2533C>A (p.Arg845=) | ClinVar dbSNP |
3 | g.122285075C= | CA1397873245 | CASR | c.2890C= (p.Arg964=) c.3151C= (p.Arg1051=) c.3121C= (p.Arg1041=) c.2638C= (p.Arg880=) c.2533C= (p.Arg845=) | |
3 | g.122285075C>G | CA354161480 | CASR | c.2890C>G (p.Arg964Gly) c.3151C>G (p.Arg1051Gly) c.3121C>G (p.Arg1041Gly) c.2638C>G (p.Arg880Gly) c.2533C>G (p.Arg845Gly) | |
3 | g.122285075C>T | CA174089 | CASR | c.2890C>T (p.Arg964Trp) c.3151C>T (p.Arg1051Trp) c.3121C>T (p.Arg1041Trp) c.2638C>T (p.Arg880Trp) c.2533C>T (p.Arg845Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122285076G>A | CA2569934 | CASR | c.2891G>A (p.Arg964Gln) c.3152G>A (p.Arg1051Gln) c.3122G>A (p.Arg1041Gln) c.2639G>A (p.Arg880Gln) c.2534G>A (p.Arg845Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122285076G>C | CA354161484 | CASR | c.2891G>C (p.Arg964Pro) c.3152G>C (p.Arg1051Pro) c.3122G>C (p.Arg1041Pro) c.2639G>C (p.Arg880Pro) c.2534G>C (p.Arg845Pro) | |
3 | g.122285076G= | CA1397873247 | CASR | c.2891G= (p.Arg964=) c.3152G= (p.Arg1051=) c.3122G= (p.Arg1041=) c.2639G= (p.Arg880=) c.2534G= (p.Arg845=) | |
3 | g.122285076G>T | CA354161486 | CASR | c.2891G>T (p.Arg964Leu) c.3152G>T (p.Arg1051Leu) c.3122G>T (p.Arg1041Leu) c.2639G>T (p.Arg880Leu) c.2534G>T (p.Arg845Leu) | |
3 | g.122285077G>A | CA435425619 | CASR | c.2892G>A (p.Arg964=) c.3153G>A (p.Arg1051=) c.3123G>A (p.Arg1041=) c.2640G>A (p.Arg880=) c.2535G>A (p.Arg845=) | dbSNP gnomAD v4 |
3 | g.122285077G>C | CA435425618 | CASR | c.2892G>C (p.Arg964=) c.3153G>C (p.Arg1051=) c.3123G>C (p.Arg1041=) c.2640G>C (p.Arg880=) c.2535G>C (p.Arg845=) | |
3 | g.122285077G= | CA1397873249 | CASR | c.2892G= (p.Arg964=) c.3153G= (p.Arg1051=) c.3123G= (p.Arg1041=) c.2640G= (p.Arg880=) c.2535G= (p.Arg845=) | |
3 | g.122285077G>T | CA435425617 | CASR | c.2892G>T (p.Arg964=) c.3153G>T (p.Arg1051=) c.3123G>T (p.Arg1041=) c.2640G>T (p.Arg880=) c.2535G>T (p.Arg845=) | |
3 | g.122285078C>A | CA354161492 | CASR | c.2893C>A (p.Pro965Thr) c.3154C>A (p.Pro1052Thr) c.3124C>A (p.Pro1042Thr) c.2641C>A (p.Pro881Thr) c.2536C>A (p.Pro846Thr) | |
3 | g.122285078C= | CA1397873250 | CASR | c.2893C= (p.Pro965=) c.3154C= (p.Pro1052=) c.3124C= (p.Pro1042=) c.2641C= (p.Pro881=) c.2536C= (p.Pro846=) | |
3 | g.122285078C>G | CA354161490 | CASR | c.2893C>G (p.Pro965Ala) c.3154C>G (p.Pro1052Ala) c.3124C>G (p.Pro1042Ala) c.2641C>G (p.Pro881Ala) c.2536C>G (p.Pro846Ala) | ClinVar dbSNP |
3 | g.122285078C>T | CA354161488 | CASR | c.2893C>T (p.Pro965Ser) c.3154C>T (p.Pro1052Ser) c.3124C>T (p.Pro1042Ser) c.2641C>T (p.Pro881Ser) c.2536C>T (p.Pro846Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.122285079C>A | CA354161494 | CASR | c.2894C>A (p.Pro965Gln) c.3155C>A (p.Pro1052Gln) c.3125C>A (p.Pro1042Gln) c.2642C>A (p.Pro881Gln) c.2537C>A (p.Pro846Gln) | gnomAD v4 |
3 | g.122285079C>G | CA354161495 | CASR | c.2894C>G (p.Pro965Arg) c.3155C>G (p.Pro1052Arg) c.3125C>G (p.Pro1042Arg) c.2642C>G (p.Pro881Arg) c.2537C>G (p.Pro846Arg) | |
3 | g.122285079C>T | CA354161497 | CASR | c.2894C>T (p.Pro965Leu) c.3155C>T (p.Pro1052Leu) c.3125C>T (p.Pro1042Leu) c.2642C>T (p.Pro881Leu) c.2537C>T (p.Pro846Leu) | COSMIC |
3 | g.122285080A>C | CA435425620 | CASR | c.2895A>C (p.Pro965=) c.3156A>C (p.Pro1052=) c.3126A>C (p.Pro1042=) c.2643A>C (p.Pro881=) c.2538A>C (p.Pro846=) | |
3 | g.122285080A>G | CA435425622 | CASR | c.2895A>G (p.Pro965=) c.3156A>G (p.Pro1052=) c.3126A>G (p.Pro1042=) c.2643A>G (p.Pro881=) c.2538A>G (p.Pro846=) | |
3 | g.122285080A>T | CA435425621 | CASR | c.2895A>T (p.Pro965=) c.3156A>T (p.Pro1052=) c.3126A>T (p.Pro1042=) c.2643A>T (p.Pro881=) c.2538A>T (p.Pro846=) | |
3 | g.122285081del | CA2667224938 | CASR | c.2896del (p.Glu966ArgfsTer13) c.3157del (p.Glu1053ArgfsTer13) c.3127del (p.Glu1043ArgfsTer13) c.2644del (p.Glu882ArgfsTer13) c.2539del (p.Glu847ArgfsTer13) | gnomAD v4 |
3 | g.122285081G>A | CA354161499 | CASR | c.2896G>A (p.Glu966Lys) c.3157G>A (p.Glu1053Lys) c.3127G>A (p.Glu1043Lys) c.2644G>A (p.Glu882Lys) c.2539G>A (p.Glu847Lys) | ClinVar gnomAD v4 |
3 | g.122285081G>C | CA354161501 | CASR | c.2896G>C (p.Glu966Gln) c.3157G>C (p.Glu1053Gln) c.3127G>C (p.Glu1043Gln) c.2644G>C (p.Glu882Gln) c.2539G>C (p.Glu847Gln) | |
3 | g.122285081G>T | CA354161502 | CASR | c.2896G>T (p.Glu966Ter) c.3157G>T (p.Glu1053Ter) c.3127G>T (p.Glu1043Ter) c.2644G>T (p.Glu882Ter) c.2539G>T (p.Glu847Ter) | |
3 | g.122285082A= | CA1397873252 | CASR | c.2897A= (p.Glu966=) c.3158A= (p.Glu1053=) c.3128A= (p.Glu1043=) c.2645A= (p.Glu882=) c.2540A= (p.Glu847=) | |
3 | g.122285082A>C | CA354161505 | CASR | c.2897A>C (p.Glu966Ala) c.3158A>C (p.Glu1053Ala) c.3128A>C (p.Glu1043Ala) c.2645A>C (p.Glu882Ala) c.2540A>C (p.Glu847Ala) | |
3 | g.122285082A>G | CA354161507 | CASR | c.2897A>G (p.Glu966Gly) c.3158A>G (p.Glu1053Gly) c.3128A>G (p.Glu1043Gly) c.2645A>G (p.Glu882Gly) c.2540A>G (p.Glu847Gly) | |
3 | g.122285082A>T | CA2569935 | CASR | c.2897A>T (p.Glu966Val) c.3158A>T (p.Glu1053Val) c.3128A>T (p.Glu1043Val) c.2645A>T (p.Glu882Val) c.2540A>T (p.Glu847Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122285083G>A | CA2569936 | CASR | c.2898G>A (p.Glu966=) c.3159G>A (p.Glu1053=) c.3129G>A (p.Glu1043=) c.2646G>A (p.Glu882=) c.2541G>A (p.Glu847=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122285083G>C | CA354161510 | CASR | c.2898G>C (p.Glu966Asp) c.3159G>C (p.Glu1053Asp) c.3129G>C (p.Glu1043Asp) c.2646G>C (p.Glu882Asp) c.2541G>C (p.Glu847Asp) | |
3 | g.122285083G= | CA1397873254 | CASR | c.2898G= (p.Glu966=) c.3159G= (p.Glu1053=) c.3129G= (p.Glu1043=) c.2646G= (p.Glu882=) c.2541G= (p.Glu847=) | |
3 | g.122285083G>T | CA354161512 | CASR | c.2898G>T (p.Glu966Asp) c.3159G>T (p.Glu1053Asp) c.3129G>T (p.Glu1043Asp) c.2646G>T (p.Glu882Asp) c.2541G>T (p.Glu847Asp) | |
3 | g.122285084del | CA2667224939 | CASR | c.2899del (p.Val967TrpfsTer12) c.3160del (p.Val1054TrpfsTer12) c.3130del (p.Val1044TrpfsTer12) c.2647del (p.Val883TrpfsTer12) c.2542del (p.Val848TrpfsTer12) | gnomAD v4 |
3 | g.122285084G>A | CA354161514 | CASR | c.2899G>A (p.Val967Met) c.3160G>A (p.Val1054Met) c.3130G>A (p.Val1044Met) c.2647G>A (p.Val883Met) c.2542G>A (p.Val848Met) | ClinVar |
3 | g.122285084G>C | CA354161515 | CASR | c.2899G>C (p.Val967Leu) c.3160G>C (p.Val1054Leu) c.3130G>C (p.Val1044Leu) c.2647G>C (p.Val883Leu) c.2542G>C (p.Val848Leu) | |
3 | g.122285084G>T | CA354161517 | CASR | c.2899G>T (p.Val967Leu) c.3160G>T (p.Val1054Leu) c.3130G>T (p.Val1044Leu) c.2647G>T (p.Val883Leu) c.2542G>T (p.Val848Leu) |