UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.122284724_122284731del | CA2695199266 | CASR | c.2539_2546del (p.Phe847AlafsTer?) c.2800_2807del (p.Phe934AlafsTer?) c.2770_2777del (p.Phe924AlafsTer?) c.2287_2294del (p.Phe763AlafsTer?) c.2182_2189del (p.Phe728AlafsTer?) | ClinVar |
| 3 | g.122284734_122284811dup | CA915941534 | CASR | c.2549_2626dup (p.Gln875_Gln876insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2810_2887dup (p.Gln962_Gln963insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2780_2857dup (p.Gln952_Gln953insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2297_2374dup (p.Gln791_Gln792insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) c.2192_2269dup (p.Gln756_Gln757insProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284726C>A | CA354160732 | CASR | c.2541C>A (p.Phe847Leu) c.2802C>A (p.Phe934Leu) c.2772C>A (p.Phe924Leu) c.2289C>A (p.Phe763Leu) c.2184C>A (p.Phe728Leu) | |
| 3 | g.122284726C= | CA1397872893 | CASR | c.2541C= (p.Phe847=) c.2802C= (p.Phe934=) c.2772C= (p.Phe924=) c.2289C= (p.Phe763=) c.2184C= (p.Phe728=) | |
| 3 | g.122284726C>G | CA354160733 | CASR | c.2541C>G (p.Phe847Leu) c.2802C>G (p.Phe934Leu) c.2772C>G (p.Phe924Leu) c.2289C>G (p.Phe763Leu) c.2184C>G (p.Phe728Leu) | gnomAD v4 |
| 3 | g.122284726C>T | CA435425424 | CASR | c.2541C>T (p.Phe847=) c.2802C>T (p.Phe934=) c.2772C>T (p.Phe924=) c.2289C>T (p.Phe763=) c.2184C>T (p.Phe728=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284727C>A | CA354160734 | CASR | c.2542C>A (p.Pro848Thr) c.2803C>A (p.Pro935Thr) c.2773C>A (p.Pro925Thr) c.2290C>A (p.Pro764Thr) c.2185C>A (p.Pro729Thr) | |
| 3 | g.122284727C>G | CA354160735 | CASR | c.2542C>G (p.Pro848Ala) c.2803C>G (p.Pro935Ala) c.2773C>G (p.Pro925Ala) c.2290C>G (p.Pro764Ala) c.2185C>G (p.Pro729Ala) | |
| 3 | g.122284727C>T | CA354160736 | CASR | c.2542C>T (p.Pro848Ser) c.2803C>T (p.Pro935Ser) c.2773C>T (p.Pro925Ser) c.2290C>T (p.Pro764Ser) c.2185C>T (p.Pro729Ser) | |
| 3 | g.122284728C>A | CA354160737 | CASR | c.2543C>A (p.Pro848Gln) c.2804C>A (p.Pro935Gln) c.2774C>A (p.Pro925Gln) c.2291C>A (p.Pro764Gln) c.2186C>A (p.Pro729Gln) | |
| 3 | g.122284728C>G | CA354160738 | CASR | c.2543C>G (p.Pro848Arg) c.2804C>G (p.Pro935Arg) c.2774C>G (p.Pro925Arg) c.2291C>G (p.Pro764Arg) c.2186C>G (p.Pro729Arg) | |
| 3 | g.122284728C>T | CA354160739 | CASR | c.2543C>T (p.Pro848Leu) c.2804C>T (p.Pro935Leu) c.2774C>T (p.Pro925Leu) c.2291C>T (p.Pro764Leu) c.2186C>T (p.Pro729Leu) | |
| 3 | g.122284729A>C | CA435425432 | CASR | c.2544A>C (p.Pro848=) c.2805A>C (p.Pro935=) c.2775A>C (p.Pro925=) c.2292A>C (p.Pro764=) c.2187A>C (p.Pro729=) | |
| 3 | g.122284729A>G | CA435425430 | CASR | c.2544A>G (p.Pro848=) c.2805A>G (p.Pro935=) c.2775A>G (p.Pro925=) c.2292A>G (p.Pro764=) c.2187A>G (p.Pro729=) | |
| 3 | g.122284729A>T | CA435425429 | CASR | c.2544A>T (p.Pro848=) c.2805A>T (p.Pro935=) c.2775A>T (p.Pro925=) c.2292A>T (p.Pro764=) c.2187A>T (p.Pro729=) | |
| 3 | g.122284730C>A | CA354160740 | CASR | c.2545C>A (p.Gln849Lys) c.2806C>A (p.Gln936Lys) c.2776C>A (p.Gln926Lys) c.2293C>A (p.Gln765Lys) c.2188C>A (p.Gln730Lys) | gnomAD v4 |
| 3 | g.122284730C>G | CA354160741 | CASR | c.2545C>G (p.Gln849Glu) c.2806C>G (p.Gln936Glu) c.2776C>G (p.Gln926Glu) c.2293C>G (p.Gln765Glu) c.2188C>G (p.Gln730Glu) | |
| 3 | g.122284730C>T | CA354160742 | CASR | c.2545C>T (p.Gln849Ter) c.2806C>T (p.Gln936Ter) c.2776C>T (p.Gln926Ter) c.2293C>T (p.Gln765Ter) c.2188C>T (p.Gln730Ter) | ClinVar dbSNP |
| 3 | g.122284731A= | CA1397872894 | CASR | c.2546A= (p.Gln849=) c.2807A= (p.Gln936=) c.2777A= (p.Gln926=) c.2294A= (p.Gln765=) c.2189A= (p.Gln730=) | |
| 3 | g.122284731A>C | CA354160744 | CASR | c.2546A>C (p.Gln849Pro) c.2807A>C (p.Gln936Pro) c.2777A>C (p.Gln926Pro) c.2294A>C (p.Gln765Pro) c.2189A>C (p.Gln730Pro) | |
| 3 | g.122284731A>G | CA216130 | CASR | c.2546A>G (p.Gln849Arg) c.2807A>G (p.Gln936Arg) c.2777A>G (p.Gln926Arg) c.2294A>G (p.Gln765Arg) c.2189A>G (p.Gln730Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284731A>T | CA354160743 | CASR | c.2546A>T (p.Gln849Leu) c.2807A>T (p.Gln936Leu) c.2777A>T (p.Gln926Leu) c.2294A>T (p.Gln765Leu) c.2189A>T (p.Gln730Leu) | |
| 3 | g.122284732G>A | CA435425435 | CASR | c.2547G>A (p.Gln849=) c.2808G>A (p.Gln936=) c.2778G>A (p.Gln926=) c.2295G>A (p.Gln765=) c.2190G>A (p.Gln730=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284732G>C | CA354160745 | CASR | c.2547G>C (p.Gln849His) c.2808G>C (p.Gln936His) c.2778G>C (p.Gln926His) c.2295G>C (p.Gln765His) c.2190G>C (p.Gln730His) | gnomAD v4 |
| 3 | g.122284732G= | CA1397872896 | CASR | c.2547G= (p.Gln849=) c.2808G= (p.Gln936=) c.2778G= (p.Gln926=) c.2295G= (p.Gln765=) c.2190G= (p.Gln730=) | |
| 3 | g.122284732G>T | CA354160746 | CASR | c.2547G>T (p.Gln849His) c.2808G>T (p.Gln936His) c.2778G>T (p.Gln926His) c.2295G>T (p.Gln765His) c.2190G>T (p.Gln730His) | |
| 3 | g.122284733C>A | CA354160747 | CASR | c.2548C>A (p.Pro850Thr) c.2809C>A (p.Pro937Thr) c.2779C>A (p.Pro927Thr) c.2296C>A (p.Pro766Thr) c.2191C>A (p.Pro731Thr) | |
| 3 | g.122284733C>G | CA354160748 | CASR | c.2548C>G (p.Pro850Ala) c.2809C>G (p.Pro937Ala) c.2779C>G (p.Pro927Ala) c.2296C>G (p.Pro766Ala) c.2191C>G (p.Pro731Ala) | |
| 3 | g.122284733C>T | CA354160749 | CASR | c.2548C>T (p.Pro850Ser) c.2809C>T (p.Pro937Ser) c.2779C>T (p.Pro927Ser) c.2296C>T (p.Pro766Ser) c.2191C>T (p.Pro731Ser) | gnomAD v4 |
| 3 | g.122284734C>A | CA354160750 | CASR | c.2549C>A (p.Pro850His) c.2810C>A (p.Pro937His) c.2780C>A (p.Pro927His) c.2297C>A (p.Pro766His) c.2192C>A (p.Pro731His) | |
| 3 | g.122284734C>G | CA354160751 | CASR | c.2549C>G (p.Pro850Arg) c.2810C>G (p.Pro937Arg) c.2780C>G (p.Pro927Arg) c.2297C>G (p.Pro766Arg) c.2192C>G (p.Pro731Arg) | |
| 3 | g.122284734C>T | CA354160752 | CASR | c.2549C>T (p.Pro850Leu) c.2810C>T (p.Pro937Leu) c.2780C>T (p.Pro927Leu) c.2297C>T (p.Pro766Leu) c.2192C>T (p.Pro731Leu) | ClinVar gnomAD v4 |
| 3 | g.122284735C>A | CA435425439 | CASR | c.2550C>A (p.Pro850=) c.2811C>A (p.Pro937=) c.2781C>A (p.Pro927=) c.2298C>A (p.Pro766=) c.2193C>A (p.Pro731=) | |
| 3 | g.122284735C= | CA1397872898 | CASR | c.2550C= (p.Pro850=) c.2811C= (p.Pro937=) c.2781C= (p.Pro927=) c.2298C= (p.Pro766=) c.2193C= (p.Pro731=) | |
| 3 | g.122284735C>G | CA2569865 | CASR | c.2550C>G (p.Pro850=) c.2811C>G (p.Pro937=) c.2781C>G (p.Pro927=) c.2298C>G (p.Pro766=) c.2193C>G (p.Pro731=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284735C>T | CA2569864 | CASR | c.2550C>T (p.Pro850=) c.2811C>T (p.Pro937=) c.2781C>T (p.Pro927=) c.2298C>T (p.Pro766=) c.2193C>T (p.Pro731=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284736G>A | CA354160753 | CASR | c.2551G>A (p.Glu851Lys) c.2812G>A (p.Glu938Lys) c.2782G>A (p.Glu928Lys) c.2299G>A (p.Glu767Lys) c.2194G>A (p.Glu732Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284736G>C | CA354160754 | CASR | c.2551G>C (p.Glu851Gln) c.2812G>C (p.Glu938Gln) c.2782G>C (p.Glu928Gln) c.2299G>C (p.Glu767Gln) c.2194G>C (p.Glu732Gln) | |
| 3 | g.122284736G= | CA1397872900 | CASR | c.2551G= (p.Glu851=) c.2812G= (p.Glu938=) c.2782G= (p.Glu928=) c.2299G= (p.Glu767=) c.2194G= (p.Glu732=) | |
| 3 | g.122284736G>T | CA354160755 | CASR | c.2551G>T (p.Glu851Ter) c.2812G>T (p.Glu938Ter) c.2782G>T (p.Glu928Ter) c.2299G>T (p.Glu767Ter) c.2194G>T (p.Glu732Ter) | |
| 3 | g.122284737A>C | CA354160758 | CASR | c.2552A>C (p.Glu851Ala) c.2813A>C (p.Glu938Ala) c.2783A>C (p.Glu928Ala) c.2300A>C (p.Glu767Ala) c.2195A>C (p.Glu732Ala) | |
| 3 | g.122284737A>G | CA354160756 | CASR | c.2552A>G (p.Glu851Gly) c.2813A>G (p.Glu938Gly) c.2783A>G (p.Glu928Gly) c.2300A>G (p.Glu767Gly) c.2195A>G (p.Glu732Gly) | ClinVar |
| 3 | g.122284737A>T | CA354160757 | CASR | c.2552A>T (p.Glu851Val) c.2813A>T (p.Glu938Val) c.2783A>T (p.Glu928Val) c.2300A>T (p.Glu767Val) c.2195A>T (p.Glu732Val) | |
| 3 | g.122284738G>A | CA435425444 | CASR | c.2553G>A (p.Glu851=) c.2814G>A (p.Glu938=) c.2784G>A (p.Glu928=) c.2301G>A (p.Glu767=) c.2196G>A (p.Glu732=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284738G>C | CA354160759 | CASR | c.2553G>C (p.Glu851Asp) c.2814G>C (p.Glu938Asp) c.2784G>C (p.Glu928Asp) c.2301G>C (p.Glu767Asp) c.2196G>C (p.Glu732Asp) | ClinVar |
| 3 | g.122284738G= | CA1397872901 | CASR | c.2553G= (p.Glu851=) c.2814G= (p.Glu938=) c.2784G= (p.Glu928=) c.2301G= (p.Glu767=) c.2196G= (p.Glu732=) | |
| 3 | g.122284738G>T | CA354160760 | CASR | c.2553G>T (p.Glu851Asp) c.2814G>T (p.Glu938Asp) c.2784G>T (p.Glu928Asp) c.2301G>T (p.Glu767Asp) c.2196G>T (p.Glu732Asp) | |
| 3 | g.122284739A>C | CA435425446 | CASR | c.2554A>C (p.Arg852=) c.2815A>C (p.Arg939=) c.2785A>C (p.Arg929=) c.2302A>C (p.Arg768=) c.2197A>C (p.Arg733=) | |
| 3 | g.122284739A>G | CA354160761 | CASR | c.2554A>G (p.Arg852Gly) c.2815A>G (p.Arg939Gly) c.2785A>G (p.Arg929Gly) c.2302A>G (p.Arg768Gly) c.2197A>G (p.Arg733Gly) | ClinVar gnomAD v4 |
| 3 | g.122284739A>T | CA354160762 | CASR | c.2554A>T (p.Arg852Trp) c.2815A>T (p.Arg939Trp) c.2785A>T (p.Arg929Trp) c.2302A>T (p.Arg768Trp) c.2197A>T (p.Arg733Trp) | |
| 3 | g.122284740G>A | CA354160763 | CASR | c.2555G>A (p.Arg852Lys) c.2816G>A (p.Arg939Lys) c.2786G>A (p.Arg929Lys) c.2303G>A (p.Arg768Lys) c.2198G>A (p.Arg733Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284740G>C | CA354160764 | CASR | c.2555G>C (p.Arg852Thr) c.2816G>C (p.Arg939Thr) c.2786G>C (p.Arg929Thr) c.2303G>C (p.Arg768Thr) c.2198G>C (p.Arg733Thr) | |
| 3 | g.122284740G= | CA1397872903 | CASR | c.2555G= (p.Arg852=) c.2816G= (p.Arg939=) c.2786G= (p.Arg929=) c.2303G= (p.Arg768=) c.2198G= (p.Arg733=) | |
| 3 | g.122284740G>T | CA354160765 | CASR | c.2555G>T (p.Arg852Met) c.2816G>T (p.Arg939Met) c.2786G>T (p.Arg929Met) c.2303G>T (p.Arg768Met) c.2198G>T (p.Arg733Met) | |
| 3 | g.122284741G>A | CA435425448 | CASR | c.2556G>A (p.Arg852=) c.2817G>A (p.Arg939=) c.2787G>A (p.Arg929=) c.2304G>A (p.Arg768=) c.2199G>A (p.Arg733=) | |
| 3 | g.122284741G>C | CA354160766 | CASR | c.2556G>C (p.Arg852Ser) c.2817G>C (p.Arg939Ser) c.2787G>C (p.Arg929Ser) c.2304G>C (p.Arg768Ser) c.2199G>C (p.Arg733Ser) | |
| 3 | g.122284741G>T | CA354160767 | CASR | c.2556G>T (p.Arg852Ser) c.2817G>T (p.Arg939Ser) c.2787G>T (p.Arg929Ser) c.2304G>T (p.Arg768Ser) c.2199G>T (p.Arg733Ser) | gnomAD v4 |
| 3 | g.122284742C>A | CA354160768 | CASR | c.2557C>A (p.Gln853Lys) c.2818C>A (p.Gln940Lys) c.2788C>A (p.Gln930Lys) c.2305C>A (p.Gln769Lys) c.2200C>A (p.Gln734Lys) | gnomAD v4 |
| 3 | g.122284742C= | CA1397872904 | CASR | c.2557C= (p.Gln853=) c.2818C= (p.Gln940=) c.2788C= (p.Gln930=) c.2305C= (p.Gln769=) c.2200C= (p.Gln734=) | |
| 3 | g.122284742C>G | CA354160769 | CASR | c.2557C>G (p.Gln853Glu) c.2818C>G (p.Gln940Glu) c.2788C>G (p.Gln930Glu) c.2305C>G (p.Gln769Glu) c.2200C>G (p.Gln734Glu) | ClinVar dbSNP |
| 3 | g.122284742C>T | CA354160770 | CASR | c.2557C>T (p.Gln853Ter) c.2818C>T (p.Gln940Ter) c.2788C>T (p.Gln930Ter) c.2305C>T (p.Gln769Ter) c.2200C>T (p.Gln734Ter) | |
| 3 | g.122284743A>C | CA354160772 | CASR | c.2558A>C (p.Gln853Pro) c.2819A>C (p.Gln940Pro) c.2789A>C (p.Gln930Pro) c.2306A>C (p.Gln769Pro) c.2201A>C (p.Gln734Pro) | |
| 3 | g.122284743A>G | CA354160773 | CASR | c.2558A>G (p.Gln853Arg) c.2819A>G (p.Gln940Arg) c.2789A>G (p.Gln930Arg) c.2306A>G (p.Gln769Arg) c.2201A>G (p.Gln734Arg) | |
| 3 | g.122284743A>T | CA354160771 | CASR | c.2558A>T (p.Gln853Leu) c.2819A>T (p.Gln940Leu) c.2789A>T (p.Gln930Leu) c.2306A>T (p.Gln769Leu) c.2201A>T (p.Gln734Leu) | |
| 3 | g.122284744G>A | CA435425451 | CASR | c.2559G>A (p.Gln853=) c.2820G>A (p.Gln940=) c.2790G>A (p.Gln930=) c.2307G>A (p.Gln769=) c.2202G>A (p.Gln734=) | ClinVar dbSNP |
| 3 | g.122284744G>C | CA354160775 | CASR | c.2559G>C (p.Gln853His) c.2820G>C (p.Gln940His) c.2790G>C (p.Gln930His) c.2307G>C (p.Gln769His) c.2202G>C (p.Gln734His) | |
| 3 | g.122284744G= | CA1397872906 | CASR | c.2559G= (p.Gln853=) c.2820G= (p.Gln940=) c.2790G= (p.Gln930=) c.2307G= (p.Gln769=) c.2202G= (p.Gln734=) | |
| 3 | g.122284744G>T | CA354160774 | CASR | c.2559G>T (p.Gln853His) c.2820G>T (p.Gln940His) c.2790G>T (p.Gln930His) c.2307G>T (p.Gln769His) c.2202G>T (p.Gln734His) | |
| 3 | g.122284745A= | CA1397872908 | CASR | c.2560A= (p.Lys854=) c.2821A= (p.Lys941=) c.2791A= (p.Lys931=) c.2308A= (p.Lys770=) c.2203A= (p.Lys735=) | |
| 3 | g.122284745A>C | CA2569866 | CASR | c.2560A>C (p.Lys854Gln) c.2821A>C (p.Lys941Gln) c.2791A>C (p.Lys931Gln) c.2308A>C (p.Lys770Gln) c.2203A>C (p.Lys735Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284745A>G | CA354160776 | CASR | c.2560A>G (p.Lys854Glu) c.2821A>G (p.Lys941Glu) c.2791A>G (p.Lys931Glu) c.2308A>G (p.Lys770Glu) c.2203A>G (p.Lys735Glu) | |
| 3 | g.122284745A>T | CA354160777 | CASR | c.2560A>T (p.Lys854Ter) c.2821A>T (p.Lys941Ter) c.2791A>T (p.Lys931Ter) c.2308A>T (p.Lys770Ter) c.2203A>T (p.Lys735Ter) | |
| 3 | g.122284746A>C | CA354160778 | CASR | c.2561A>C (p.Lys854Thr) c.2822A>C (p.Lys941Thr) c.2792A>C (p.Lys931Thr) c.2309A>C (p.Lys770Thr) c.2204A>C (p.Lys735Thr) | |
| 3 | g.122284746A>G | CA354160779 | CASR | c.2561A>G (p.Lys854Arg) c.2822A>G (p.Lys941Arg) c.2792A>G (p.Lys931Arg) c.2309A>G (p.Lys770Arg) c.2204A>G (p.Lys735Arg) | ClinVar |
| 3 | g.122284746A>T | CA354160780 | CASR | c.2561A>T (p.Lys854Met) c.2822A>T (p.Lys941Met) c.2792A>T (p.Lys931Met) c.2309A>T (p.Lys770Met) c.2204A>T (p.Lys735Met) | |
| 3 | g.122284752_122284757dup | CA2580616519 | CASR | c.2567_2572dup (p.Gln857_Pro858insGlnGln) c.2828_2833dup (p.Gln944_Pro945insGlnGln) c.2798_2803dup (p.Gln934_Pro935insGlnGln) c.2315_2320dup (p.Gln773_Pro774insGlnGln) c.2210_2215dup (p.Gln738_Pro739insGlnGln) | ClinVar gnomAD v4 |
| 3 | g.122284755_122284757del | CA2580616520 | CASR | c.2570_2572del (p.Gln857del) c.2831_2833del (p.Gln944del) c.2801_2803del (p.Gln934del) c.2318_2320del (p.Gln773del) c.2213_2215del (p.Gln738del) | ClinVar gnomAD v4 |
| 3 | g.122284758_122284790dup | CA1397872910 | CASR | c.2573_2605dup (p.Gln868_Gln869insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) c.2834_2866dup (p.Gln955_Gln956insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) c.2804_2836dup (p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) c.2321_2353dup (p.Gln784_Gln785insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) c.2216_2248dup (p.Gln749_Gln750insProLeuAlaLeuThrGlnGlnGluGlnGlnGln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284755_122284832dup | CA2667224708 | CASR | c.2570_2647dup (p.Gln882_Pro883insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2831_2908dup (p.Gln969_Pro970insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2801_2878dup (p.Gln959_Pro960insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2318_2395dup (p.Gln798_Pro799insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) c.2213_2290dup (p.Gln763_Pro764insGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGln) | gnomAD v4 |
| 3 | g.122284747G>A | CA435425455 | CASR | c.2562G>A (p.Lys854=) c.2823G>A (p.Lys941=) c.2793G>A (p.Lys931=) c.2310G>A (p.Lys770=) c.2205G>A (p.Lys735=) | gnomAD v4 |
| 3 | g.122284747G>C | CA354160781 | CASR | c.2562G>C (p.Lys854Asn) c.2823G>C (p.Lys941Asn) c.2793G>C (p.Lys931Asn) c.2310G>C (p.Lys770Asn) c.2205G>C (p.Lys735Asn) | |
| 3 | g.122284747G>T | CA354160782 | CASR | c.2562G>T (p.Lys854Asn) c.2823G>T (p.Lys941Asn) c.2793G>T (p.Lys931Asn) c.2310G>T (p.Lys770Asn) c.2205G>T (p.Lys735Asn) | |
| 3 | g.122284748C>A | CA354160783 | CASR | c.2563C>A (p.Gln855Lys) c.2824C>A (p.Gln942Lys) c.2794C>A (p.Gln932Lys) c.2311C>A (p.Gln771Lys) c.2206C>A (p.Gln736Lys) | |
| 3 | g.122284748C>G | CA354160784 | CASR | c.2563C>G (p.Gln855Glu) c.2824C>G (p.Gln942Glu) c.2794C>G (p.Gln932Glu) c.2311C>G (p.Gln771Glu) c.2206C>G (p.Gln736Glu) | ClinVar dbSNP |
| 3 | g.122284748C>T | CA354160785 | CASR | c.2563C>T (p.Gln855Ter) c.2824C>T (p.Gln942Ter) c.2794C>T (p.Gln932Ter) c.2311C>T (p.Gln771Ter) c.2206C>T (p.Gln736Ter) | |
| 3 | g.122284749A>C | CA354160786 | CASR | c.2564A>C (p.Gln855Pro) c.2825A>C (p.Gln942Pro) c.2795A>C (p.Gln932Pro) c.2312A>C (p.Gln771Pro) c.2207A>C (p.Gln736Pro) | ClinVar |
| 3 | g.122284749A>G | CA354160787 | CASR | c.2564A>G (p.Gln855Arg) c.2825A>G (p.Gln942Arg) c.2795A>G (p.Gln932Arg) c.2312A>G (p.Gln771Arg) c.2207A>G (p.Gln736Arg) | |
| 3 | g.122284749A>T | CA354160788 | CASR | c.2564A>T (p.Gln855Leu) c.2825A>T (p.Gln942Leu) c.2795A>T (p.Gln932Leu) c.2312A>T (p.Gln771Leu) c.2207A>T (p.Gln736Leu) | |
| 3 | g.122284750G>A | CA435425457 | CASR | c.2565G>A (p.Gln855=) c.2826G>A (p.Gln942=) c.2796G>A (p.Gln932=) c.2313G>A (p.Gln771=) c.2208G>A (p.Gln736=) | ClinVar dbSNP |
| 3 | g.122284750G>C | CA354160789 | CASR | c.2565G>C (p.Gln855His) c.2826G>C (p.Gln942His) c.2796G>C (p.Gln932His) c.2313G>C (p.Gln771His) c.2208G>C (p.Gln736His) | |
| 3 | g.122284750G= | CA1397872911 | CASR | c.2565G= (p.Gln855=) c.2826G= (p.Gln942=) c.2796G= (p.Gln932=) c.2313G= (p.Gln771=) c.2208G= (p.Gln736=) | |
| 3 | g.122284750G>T | CA354160790 | CASR | c.2565G>T (p.Gln855His) c.2826G>T (p.Gln942His) c.2796G>T (p.Gln932His) c.2313G>T (p.Gln771His) c.2208G>T (p.Gln736His) | |
| 3 | g.122284751C>A | CA354160791 | CASR | c.2566C>A (p.Gln856Lys) c.2827C>A (p.Gln943Lys) c.2797C>A (p.Gln933Lys) c.2314C>A (p.Gln772Lys) c.2209C>A (p.Gln737Lys) | |
| 3 | g.122284751C>G | CA354160792 | CASR | c.2566C>G (p.Gln856Glu) c.2827C>G (p.Gln943Glu) c.2797C>G (p.Gln933Glu) c.2314C>G (p.Gln772Glu) c.2209C>G (p.Gln737Glu) | |
| 3 | g.122284751C>T | CA354160793 | CASR | c.2566C>T (p.Gln856Ter) c.2827C>T (p.Gln943Ter) c.2797C>T (p.Gln933Ter) c.2314C>T (p.Gln772Ter) c.2209C>T (p.Gln737Ter) | |
| 3 | g.122284752A>C | CA354160794 | CASR | c.2567A>C (p.Gln856Pro) c.2828A>C (p.Gln943Pro) c.2798A>C (p.Gln933Pro) c.2315A>C (p.Gln772Pro) c.2210A>C (p.Gln737Pro) | |
| 3 | g.122284752A>G | CA354160795 | CASR | c.2567A>G (p.Gln856Arg) c.2828A>G (p.Gln943Arg) c.2798A>G (p.Gln933Arg) c.2315A>G (p.Gln772Arg) c.2210A>G (p.Gln737Arg) | |
| 3 | g.122284752A>T | CA354160796 | CASR | c.2567A>T (p.Gln856Leu) c.2828A>T (p.Gln943Leu) c.2798A>T (p.Gln933Leu) c.2315A>T (p.Gln772Leu) c.2210A>T (p.Gln737Leu) | |
| 3 | g.122284753G>A | CA435425458 | CASR | c.2568G>A (p.Gln856=) c.2829G>A (p.Gln943=) c.2799G>A (p.Gln933=) c.2316G>A (p.Gln772=) c.2211G>A (p.Gln737=) | |
| 3 | g.122284753G>C | CA354160797 | CASR | c.2568G>C (p.Gln856His) c.2829G>C (p.Gln943His) c.2799G>C (p.Gln933His) c.2316G>C (p.Gln772His) c.2211G>C (p.Gln737His) | |
| 3 | g.122284753G>T | CA354160798 | CASR | c.2568G>T (p.Gln856His) c.2829G>T (p.Gln943His) c.2799G>T (p.Gln933His) c.2316G>T (p.Gln772His) c.2211G>T (p.Gln737His) | |
| 3 | g.122284754C>A | CA354160799 | CASR | c.2569C>A (p.Gln857Lys) c.2830C>A (p.Gln944Lys) c.2800C>A (p.Gln934Lys) c.2317C>A (p.Gln773Lys) c.2212C>A (p.Gln738Lys) | |
| 3 | g.122284754C>G | CA354160800 | CASR | c.2569C>G (p.Gln857Glu) c.2830C>G (p.Gln944Glu) c.2800C>G (p.Gln934Glu) c.2317C>G (p.Gln773Glu) c.2212C>G (p.Gln738Glu) | |
| 3 | g.122284754C>T | CA354160801 | CASR | c.2569C>T (p.Gln857Ter) c.2830C>T (p.Gln944Ter) c.2800C>T (p.Gln934Ter) c.2317C>T (p.Gln773Ter) c.2212C>T (p.Gln738Ter) | |
| 3 | g.122284755A>C | CA354160803 | CASR | c.2570A>C (p.Gln857Pro) c.2831A>C (p.Gln944Pro) c.2801A>C (p.Gln934Pro) c.2318A>C (p.Gln773Pro) c.2213A>C (p.Gln738Pro) | ClinVar |
| 3 | g.122284755A>G | CA354160804 | CASR | c.2570A>G (p.Gln857Arg) c.2831A>G (p.Gln944Arg) c.2801A>G (p.Gln934Arg) c.2318A>G (p.Gln773Arg) c.2213A>G (p.Gln738Arg) | |
| 3 | g.122284755A>T | CA354160802 | CASR | c.2570A>T (p.Gln857Leu) c.2831A>T (p.Gln944Leu) c.2801A>T (p.Gln934Leu) c.2318A>T (p.Gln773Leu) c.2213A>T (p.Gln738Leu) | |
| 3 | g.122284756G>A | CA2569867 | CASR | c.2571G>A (p.Gln857=) c.2832G>A (p.Gln944=) c.2802G>A (p.Gln934=) c.2319G>A (p.Gln773=) c.2214G>A (p.Gln738=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284756G>C | CA354160805 | CASR | c.2571G>C (p.Gln857His) c.2832G>C (p.Gln944His) c.2802G>C (p.Gln934His) c.2319G>C (p.Gln773His) c.2214G>C (p.Gln738His) | |
| 3 | g.122284756G= | CA1397872914 | CASR | c.2571G= (p.Gln857=) c.2832G= (p.Gln944=) c.2802G= (p.Gln934=) c.2319G= (p.Gln773=) c.2214G= (p.Gln738=) | |
| 3 | g.122284756G>T | CA354160806 | CASR | c.2571G>T (p.Gln857His) c.2832G>T (p.Gln944His) c.2802G>T (p.Gln934His) c.2319G>T (p.Gln773His) c.2214G>T (p.Gln738His) | |
| 3 | g.122284757C>A | CA82749257 | CASR | c.2572C>A (p.Pro858Thr) c.2833C>A (p.Pro945Thr) c.2803C>A (p.Pro935Thr) c.2320C>A (p.Pro774Thr) c.2215C>A (p.Pro739Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284757C= | CA1397872916 | CASR | c.2572C= (p.Pro858=) c.2833C= (p.Pro945=) c.2803C= (p.Pro935=) c.2320C= (p.Pro774=) c.2215C= (p.Pro739=) | |
| 3 | g.122284757C>G | CA354160807 | CASR | c.2572C>G (p.Pro858Ala) c.2833C>G (p.Pro945Ala) c.2803C>G (p.Pro935Ala) c.2320C>G (p.Pro774Ala) c.2215C>G (p.Pro739Ala) | |
| 3 | g.122284757C>T | CA354160808 | CASR | c.2572C>T (p.Pro858Ser) c.2833C>T (p.Pro945Ser) c.2803C>T (p.Pro935Ser) c.2320C>T (p.Pro774Ser) c.2215C>T (p.Pro739Ser) | ClinVar COSMIC |
| 3 | g.122284758C>A | CA354160810 | CASR | c.2573C>A (p.Pro858Gln) c.2834C>A (p.Pro945Gln) c.2804C>A (p.Pro935Gln) c.2321C>A (p.Pro774Gln) c.2216C>A (p.Pro739Gln) | dbSNP gnomAD v2 |
| 3 | g.122284758C= | CA1397872918 | CASR | c.2573C= (p.Pro858=) c.2834C= (p.Pro945=) c.2804C= (p.Pro935=) c.2321C= (p.Pro774=) c.2216C= (p.Pro739=) | |
| 3 | g.122284758C>G | CA354160809 | CASR | c.2573C>G (p.Pro858Arg) c.2834C>G (p.Pro945Arg) c.2804C>G (p.Pro935Arg) c.2321C>G (p.Pro774Arg) c.2216C>G (p.Pro739Arg) | |
| 3 | g.122284758C>T | CA82749263 | CASR | c.2573C>T (p.Pro858Leu) c.2834C>T (p.Pro945Leu) c.2804C>T (p.Pro935Leu) c.2321C>T (p.Pro774Leu) c.2216C>T (p.Pro739Leu) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284759G>A | CA435425465 | CASR | c.2574G>A (p.Pro858=) c.2835G>A (p.Pro945=) c.2805G>A (p.Pro935=) c.2322G>A (p.Pro774=) c.2217G>A (p.Pro739=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284759G>C | CA435425466 | CASR | c.2574G>C (p.Pro858=) c.2835G>C (p.Pro945=) c.2805G>C (p.Pro935=) c.2322G>C (p.Pro774=) c.2217G>C (p.Pro739=) | ClinVar |
| 3 | g.122284759G= | CA1397872920 | CASR | c.2574G= (p.Pro858=) c.2835G= (p.Pro945=) c.2805G= (p.Pro935=) c.2322G= (p.Pro774=) c.2217G= (p.Pro739=) | |
| 3 | g.122284759G>T | CA435425467 | CASR | c.2574G>T (p.Pro858=) c.2835G>T (p.Pro945=) c.2805G>T (p.Pro935=) c.2322G>T (p.Pro774=) c.2217G>T (p.Pro739=) | ClinVar gnomAD v4 |
| 3 | g.122284760C>A | CA354160811 | CASR | c.2575C>A (p.Leu859Met) c.2836C>A (p.Leu946Met) c.2806C>A (p.Leu936Met) c.2323C>A (p.Leu775Met) c.2218C>A (p.Leu740Met) | |
| 3 | g.122284760C= | CA1397872922 | CASR | c.2575C= (p.Leu859=) c.2836C= (p.Leu946=) c.2806C= (p.Leu936=) c.2323C= (p.Leu775=) c.2218C= (p.Leu740=) | |
| 3 | g.122284760C>G | CA354160812 | CASR | c.2575C>G (p.Leu859Val) c.2836C>G (p.Leu946Val) c.2806C>G (p.Leu936Val) c.2323C>G (p.Leu775Val) c.2218C>G (p.Leu740Val) | |
| 3 | g.122284760C>T | CA435425468 | CASR | c.2575C>T (p.Leu859=) c.2836C>T (p.Leu946=) c.2806C>T (p.Leu936=) c.2323C>T (p.Leu775=) c.2218C>T (p.Leu740=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284761T>A | CA354160813 | CASR | c.2576T>A (p.Leu859Gln) c.2837T>A (p.Leu946Gln) c.2807T>A (p.Leu936Gln) c.2324T>A (p.Leu775Gln) c.2219T>A (p.Leu740Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284761T>C | CA354160814 | CASR | c.2576T>C (p.Leu859Pro) c.2837T>C (p.Leu946Pro) c.2807T>C (p.Leu936Pro) c.2324T>C (p.Leu775Pro) c.2219T>C (p.Leu740Pro) | |
| 3 | g.122284761T>G | CA354160815 | CASR | c.2576T>G (p.Leu859Arg) c.2837T>G (p.Leu946Arg) c.2807T>G (p.Leu936Arg) c.2324T>G (p.Leu775Arg) c.2219T>G (p.Leu740Arg) | dbSNP |
| 3 | g.122284761T= | CA1397872925 | CASR | c.2576T= (p.Leu859=) c.2837T= (p.Leu946=) c.2807T= (p.Leu936=) c.2324T= (p.Leu775=) c.2219T= (p.Leu740=) | |
| 3 | g.122284762G>A | CA435425473 | CASR | c.2577G>A (p.Leu859=) c.2838G>A (p.Leu946=) c.2808G>A (p.Leu936=) c.2325G>A (p.Leu775=) c.2220G>A (p.Leu740=) | |
| 3 | g.122284762G>C | CA435425471 | CASR | c.2577G>C (p.Leu859=) c.2838G>C (p.Leu946=) c.2808G>C (p.Leu936=) c.2325G>C (p.Leu775=) c.2220G>C (p.Leu740=) | |
| 3 | g.122284762G>T | CA435425472 | CASR | c.2577G>T (p.Leu859=) c.2838G>T (p.Leu946=) c.2808G>T (p.Leu936=) c.2325G>T (p.Leu775=) c.2220G>T (p.Leu740=) | |
| 3 | g.122284763G>A | CA354160816 | CASR | c.2578G>A (p.Ala860Thr) c.2839G>A (p.Ala947Thr) c.2809G>A (p.Ala937Thr) c.2326G>A (p.Ala776Thr) c.2221G>A (p.Ala741Thr) | |
| 3 | g.122284763G>C | CA354160818 | CASR | c.2578G>C (p.Ala860Pro) c.2839G>C (p.Ala947Pro) c.2809G>C (p.Ala937Pro) c.2326G>C (p.Ala776Pro) c.2221G>C (p.Ala741Pro) | |
| 3 | g.122284763G>T | CA354160817 | CASR | c.2578G>T (p.Ala860Ser) c.2839G>T (p.Ala947Ser) c.2809G>T (p.Ala937Ser) c.2326G>T (p.Ala776Ser) c.2221G>T (p.Ala741Ser) | |
| 3 | g.122284764C>A | CA354160819 | CASR | c.2579C>A (p.Ala860Asp) c.2840C>A (p.Ala947Asp) c.2810C>A (p.Ala937Asp) c.2327C>A (p.Ala776Asp) c.2222C>A (p.Ala741Asp) | |
| 3 | g.122284764C= | CA1397872928 | CASR | c.2579C= (p.Ala860=) c.2840C= (p.Ala947=) c.2810C= (p.Ala937=) c.2327C= (p.Ala776=) c.2222C= (p.Ala741=) | |
| 3 | g.122284764C>G | CA2569868 | CASR | c.2579C>G (p.Ala860Gly) c.2840C>G (p.Ala947Gly) c.2810C>G (p.Ala937Gly) c.2327C>G (p.Ala776Gly) c.2222C>G (p.Ala741Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284764C>T | CA354160820 | CASR | c.2579C>T (p.Ala860Val) c.2840C>T (p.Ala947Val) c.2810C>T (p.Ala937Val) c.2327C>T (p.Ala776Val) c.2222C>T (p.Ala741Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284765C>A | CA435425475 | CASR | c.2580C>A (p.Ala860=) c.2841C>A (p.Ala947=) c.2811C>A (p.Ala937=) c.2328C>A (p.Ala776=) c.2223C>A (p.Ala741=) | |
| 3 | g.122284765C>G | CA435425476 | CASR | c.2580C>G (p.Ala860=) c.2841C>G (p.Ala947=) c.2811C>G (p.Ala937=) c.2328C>G (p.Ala776=) c.2223C>G (p.Ala741=) | ClinVar |
| 3 | g.122284765C>T | CA435425477 | CASR | c.2580C>T (p.Ala860=) c.2841C>T (p.Ala947=) c.2811C>T (p.Ala937=) c.2328C>T (p.Ala776=) c.2223C>T (p.Ala741=) | |
| 3 | g.122284766C>A | CA354160821 | CASR | c.2581C>A (p.Leu861Ile) c.2842C>A (p.Leu948Ile) c.2812C>A (p.Leu938Ile) c.2329C>A (p.Leu777Ile) c.2224C>A (p.Leu742Ile) | ClinVar dbSNP |
| 3 | g.122284766C= | CA1397872930 | CASR | c.2581C= (p.Leu861=) c.2842C= (p.Leu948=) c.2812C= (p.Leu938=) c.2329C= (p.Leu777=) c.2224C= (p.Leu742=) | |
| 3 | g.122284766C>G | CA354160822 | CASR | c.2581C>G (p.Leu861Val) c.2842C>G (p.Leu948Val) c.2812C>G (p.Leu938Val) c.2329C>G (p.Leu777Val) c.2224C>G (p.Leu742Val) | |
| 3 | g.122284766C>T | CA435425478 | CASR | c.2581C>T (p.Leu861=) c.2842C>T (p.Leu948=) c.2812C>T (p.Leu938=) c.2329C>T (p.Leu777=) c.2224C>T (p.Leu742=) | |
| 3 | g.122284767T>A | CA354160823 | CASR | c.2582T>A (p.Leu861Gln) c.2843T>A (p.Leu948Gln) c.2813T>A (p.Leu938Gln) c.2330T>A (p.Leu777Gln) c.2225T>A (p.Leu742Gln) | |
| 3 | g.122284767T>C | CA354160824 | CASR | c.2582T>C (p.Leu861Pro) c.2843T>C (p.Leu948Pro) c.2813T>C (p.Leu938Pro) c.2330T>C (p.Leu777Pro) c.2225T>C (p.Leu742Pro) | dbSNP |
| 3 | g.122284767T>G | CA354160825 | CASR | c.2582T>G (p.Leu861Arg) c.2843T>G (p.Leu948Arg) c.2813T>G (p.Leu938Arg) c.2330T>G (p.Leu777Arg) c.2225T>G (p.Leu742Arg) | |
| 3 | g.122284767T= | CA1397872932 | CASR | c.2582T= (p.Leu861=) c.2843T= (p.Leu948=) c.2813T= (p.Leu938=) c.2330T= (p.Leu777=) c.2225T= (p.Leu742=) | |
| 3 | g.122284768A>C | CA435425483 | CASR | c.2583A>C (p.Leu861=) c.2844A>C (p.Leu948=) c.2814A>C (p.Leu938=) c.2331A>C (p.Leu777=) c.2226A>C (p.Leu742=) | ClinVar dbSNP |
| 3 | g.122284768A>G | CA435425482 | CASR | c.2583A>G (p.Leu861=) c.2844A>G (p.Leu948=) c.2814A>G (p.Leu938=) c.2331A>G (p.Leu777=) c.2226A>G (p.Leu742=) | |
| 3 | g.122284768A>T | CA435425484 | CASR | c.2583A>T (p.Leu861=) c.2844A>T (p.Leu948=) c.2814A>T (p.Leu938=) c.2331A>T (p.Leu777=) c.2226A>T (p.Leu742=) | |
| 3 | g.122284769A>C | CA354160826 | CASR | c.2584A>C (p.Thr862Pro) c.2845A>C (p.Thr949Pro) c.2815A>C (p.Thr939Pro) c.2332A>C (p.Thr778Pro) c.2227A>C (p.Thr743Pro) | |
| 3 | g.122284769A>G | CA354160827 | CASR | c.2584A>G (p.Thr862Ala) c.2845A>G (p.Thr949Ala) c.2815A>G (p.Thr939Ala) c.2332A>G (p.Thr778Ala) c.2227A>G (p.Thr743Ala) | |
| 3 | g.122284769A>T | CA354160828 | CASR | c.2584A>T (p.Thr862Ser) c.2845A>T (p.Thr949Ser) c.2815A>T (p.Thr939Ser) c.2332A>T (p.Thr778Ser) c.2227A>T (p.Thr743Ser) | |
| 3 | g.122284770C>A | CA354160831 | CASR | c.2585C>A (p.Thr862Asn) c.2846C>A (p.Thr949Asn) c.2816C>A (p.Thr939Asn) c.2333C>A (p.Thr778Asn) c.2228C>A (p.Thr743Asn) | |
| 3 | g.122284770C>G | CA354160830 | CASR | c.2585C>G (p.Thr862Ser) c.2846C>G (p.Thr949Ser) c.2816C>G (p.Thr939Ser) c.2333C>G (p.Thr778Ser) c.2228C>G (p.Thr743Ser) | |
| 3 | g.122284770C>T | CA354160829 | CASR | c.2585C>T (p.Thr862Ile) c.2846C>T (p.Thr949Ile) c.2816C>T (p.Thr939Ile) c.2333C>T (p.Thr778Ile) c.2228C>T (p.Thr743Ile) | |
| 3 | g.122284771C>A | CA435425488 | CASR | c.2586C>A (p.Thr862=) c.2847C>A (p.Thr949=) c.2817C>A (p.Thr939=) c.2334C>A (p.Thr778=) c.2229C>A (p.Thr743=) | |
| 3 | g.122284771C= | CA1397872933 | CASR | c.2586C= (p.Thr862=) c.2847C= (p.Thr949=) c.2817C= (p.Thr939=) c.2334C= (p.Thr778=) c.2229C= (p.Thr743=) | |
| 3 | g.122284771C>G | CA435425489 | CASR | c.2586C>G (p.Thr862=) c.2847C>G (p.Thr949=) c.2817C>G (p.Thr939=) c.2334C>G (p.Thr778=) c.2229C>G (p.Thr743=) | gnomAD v4 |
| 3 | g.122284771C>T | CA435425490 | CASR | c.2586C>T (p.Thr862=) c.2847C>T (p.Thr949=) c.2817C>T (p.Thr939=) c.2334C>T (p.Thr778=) c.2229C>T (p.Thr743=) | ClinVar dbSNP |
| 3 | g.122284772C>A | CA354160832 | CASR | c.2587C>A (p.Gln863Lys) c.2848C>A (p.Gln950Lys) c.2818C>A (p.Gln940Lys) c.2335C>A (p.Gln779Lys) c.2230C>A (p.Gln744Lys) | ClinVar dbSNP COSMIC |
| 3 | g.122284772C= | CA1397872935 | CASR | c.2587C= (p.Gln863=) c.2848C= (p.Gln950=) c.2818C= (p.Gln940=) c.2335C= (p.Gln779=) c.2230C= (p.Gln744=) | |
| 3 | g.122284772C>G | CA354160834 | CASR | c.2587C>G (p.Gln863Glu) c.2848C>G (p.Gln950Glu) c.2818C>G (p.Gln940Glu) c.2335C>G (p.Gln779Glu) c.2230C>G (p.Gln744Glu) | |
| 3 | g.122284772C>T | CA354160833 | CASR | c.2587C>T (p.Gln863Ter) c.2848C>T (p.Gln950Ter) c.2818C>T (p.Gln940Ter) c.2335C>T (p.Gln779Ter) c.2230C>T (p.Gln744Ter) | ClinVar dbSNP |
| 3 | g.122284773A= | CA1397872937 | CASR | c.2588A= (p.Gln863=) c.2849A= (p.Gln950=) c.2819A= (p.Gln940=) c.2336A= (p.Gln779=) c.2231A= (p.Gln744=) | |
| 3 | g.122284773A>C | CA354160835 | CASR | c.2588A>C (p.Gln863Pro) c.2849A>C (p.Gln950Pro) c.2819A>C (p.Gln940Pro) c.2336A>C (p.Gln779Pro) c.2231A>C (p.Gln744Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284773A>G | CA354160836 | CASR | c.2588A>G (p.Gln863Arg) c.2849A>G (p.Gln950Arg) c.2819A>G (p.Gln940Arg) c.2336A>G (p.Gln779Arg) c.2231A>G (p.Gln744Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284773A>T | CA354160837 | CASR | c.2588A>T (p.Gln863Leu) c.2849A>T (p.Gln950Leu) c.2819A>T (p.Gln940Leu) c.2336A>T (p.Gln779Leu) c.2231A>T (p.Gln744Leu) | |
| 3 | g.122284774G>A | CA2569869 | CASR | c.2589G>A (p.Gln863=) c.2850G>A (p.Gln950=) c.2820G>A (p.Gln940=) c.2337G>A (p.Gln779=) c.2232G>A (p.Gln744=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284774G>C | CA354160838 | CASR | c.2589G>C (p.Gln863His) c.2850G>C (p.Gln950His) c.2820G>C (p.Gln940His) c.2337G>C (p.Gln779His) c.2232G>C (p.Gln744His) | |
| 3 | g.122284774G= | CA1397872938 | CASR | c.2589G= (p.Gln863=) c.2850G= (p.Gln950=) c.2820G= (p.Gln940=) c.2337G= (p.Gln779=) c.2232G= (p.Gln744=) | |
| 3 | g.122284774G>T | CA354160839 | CASR | c.2589G>T (p.Gln863His) c.2850G>T (p.Gln950His) c.2820G>T (p.Gln940His) c.2337G>T (p.Gln779His) c.2232G>T (p.Gln744His) | gnomAD v4 |
| 3 | g.122284775C>A | CA354160840 | CASR | c.2590C>A (p.Gln864Lys) c.2851C>A (p.Gln951Lys) c.2821C>A (p.Gln941Lys) c.2338C>A (p.Gln780Lys) c.2233C>A (p.Gln745Lys) | |
| 3 | g.122284775C>G | CA354160841 | CASR | c.2590C>G (p.Gln864Glu) c.2851C>G (p.Gln951Glu) c.2821C>G (p.Gln941Glu) c.2338C>G (p.Gln780Glu) c.2233C>G (p.Gln745Glu) | ClinVar dbSNP |
| 3 | g.122284775C>T | CA354160842 | CASR | c.2590C>T (p.Gln864Ter) c.2851C>T (p.Gln951Ter) c.2821C>T (p.Gln941Ter) c.2338C>T (p.Gln780Ter) c.2233C>T (p.Gln745Ter) | |
| 3 | g.122284776A>C | CA354160843 | CASR | c.2591A>C (p.Gln864Pro) c.2852A>C (p.Gln951Pro) c.2822A>C (p.Gln941Pro) c.2339A>C (p.Gln780Pro) c.2234A>C (p.Gln745Pro) | |
| 3 | g.122284776A>G | CA354160844 | CASR | c.2591A>G (p.Gln864Arg) c.2852A>G (p.Gln951Arg) c.2822A>G (p.Gln941Arg) c.2339A>G (p.Gln780Arg) c.2234A>G (p.Gln745Arg) | ClinVar |
| 3 | g.122284776A>T | CA354160845 | CASR | c.2591A>T (p.Gln864Leu) c.2852A>T (p.Gln951Leu) c.2822A>T (p.Gln941Leu) c.2339A>T (p.Gln780Leu) c.2234A>T (p.Gln745Leu) | |
| 3 | g.122284777del | CA2667224709 | CASR | c.2592del (p.Glu865SerfsTer7) c.2853del (p.Glu952SerfsTer7) c.2823del (p.Glu942SerfsTer7) c.2340del (p.Glu781SerfsTer7) c.2235del (p.Glu746SerfsTer7) | gnomAD v4 |
| 3 | g.122284777A>C | CA354160846 | CASR | c.2592A>C (p.Gln864His) c.2853A>C (p.Gln951His) c.2823A>C (p.Gln941His) c.2340A>C (p.Gln780His) c.2235A>C (p.Gln745His) | |
| 3 | g.122284777A>G | CA435425492 | CASR | c.2592A>G (p.Gln864=) c.2853A>G (p.Gln951=) c.2823A>G (p.Gln941=) c.2340A>G (p.Gln780=) c.2235A>G (p.Gln745=) | ClinVar |
| 3 | g.122284777A>T | CA354160847 | CASR | c.2592A>T (p.Gln864His) c.2853A>T (p.Gln951His) c.2823A>T (p.Gln941His) c.2340A>T (p.Gln780His) c.2235A>T (p.Gln745His) | |
| 3 | g.122284778G>A | CA2569870 | CASR | c.2593G>A (p.Glu865Lys) c.2854G>A (p.Glu952Lys) c.2824G>A (p.Glu942Lys) c.2341G>A (p.Glu781Lys) c.2236G>A (p.Glu746Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284778G>C | CA354160848 | CASR | c.2593G>C (p.Glu865Gln) c.2854G>C (p.Glu952Gln) c.2824G>C (p.Glu942Gln) c.2341G>C (p.Glu781Gln) c.2236G>C (p.Glu746Gln) | |
| 3 | g.122284778G= | CA1397872940 | CASR | c.2593G= (p.Glu865=) c.2854G= (p.Glu952=) c.2824G= (p.Glu942=) c.2341G= (p.Glu781=) c.2236G= (p.Glu746=) | |
| 3 | g.122284778G>T | CA354160849 | CASR | c.2593G>T (p.Glu865Ter) c.2854G>T (p.Glu952Ter) c.2824G>T (p.Glu942Ter) c.2341G>T (p.Glu781Ter) c.2236G>T (p.Glu746Ter) | |
| 3 | g.122284778_122284781delinsGAGC | CA1397872941 | CASR | c.2593_2596delinsGAGC (p.Glu865=) c.2854_2857delinsGAGC (p.Glu952=) c.2824_2827delinsGAGC (p.Glu942=) c.2341_2344delinsGAGC (p.Glu781=) c.2236_2239delinsGAGC (p.Glu746=) | |
| 3 | g.122284779A>C | CA354160850 | CASR | c.2594A>C (p.Glu865Ala) c.2855A>C (p.Glu952Ala) c.2825A>C (p.Glu942Ala) c.2342A>C (p.Glu781Ala) c.2237A>C (p.Glu746Ala) | |
| 3 | g.122284779A>G | CA354160851 | CASR | c.2594A>G (p.Glu865Gly) c.2855A>G (p.Glu952Gly) c.2825A>G (p.Glu942Gly) c.2342A>G (p.Glu781Gly) c.2237A>G (p.Glu746Gly) | |
| 3 | g.122284779A>T | CA354160852 | CASR | c.2594A>T (p.Glu865Val) c.2855A>T (p.Glu952Val) c.2825A>T (p.Glu942Val) c.2342A>T (p.Glu781Val) c.2237A>T (p.Glu746Val) | |
| 3 | g.122284791_122284793dup | CA2569872 | CASR | c.2606_2608dup (p.Gln869_Pro870insGln) c.2867_2869dup (p.Gln956_Pro957insGln) c.2837_2839dup (p.Gln946_Pro947insGln) c.2354_2356dup (p.Gln785_Pro786insGln) c.2249_2251dup (p.Gln750_Pro751insGln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284788_122284793dup | CA2740094577 | CASR | c.2603_2608dup (p.Gln869_Pro870insGlnGln) c.2864_2869dup (p.Gln956_Pro957insGlnGln) c.2834_2839dup (p.Gln946_Pro947insGlnGln) c.2351_2356dup (p.Gln785_Pro786insGlnGln) c.2246_2251dup (p.Gln750_Pro751insGlnGln) | ClinVar |
| 3 | g.122284791_122284793del | CA2569871 | CASR | c.2606_2608del (p.Gln869del) c.2867_2869del (p.Gln956del) c.2837_2839del (p.Gln946del) c.2354_2356del (p.Gln785del) c.2249_2251del (p.Gln750del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284780G>A | CA435425499 | CASR | c.2595G>A (p.Glu865=) c.2856G>A (p.Glu952=) c.2826G>A (p.Glu942=) c.2343G>A (p.Glu781=) c.2238G>A (p.Glu746=) | ClinVar dbSNP |
| 3 | g.122284780G>C | CA354160853 | CASR | c.2595G>C (p.Glu865Asp) c.2856G>C (p.Glu952Asp) c.2826G>C (p.Glu942Asp) c.2343G>C (p.Glu781Asp) c.2238G>C (p.Glu746Asp) | |
| 3 | g.122284780G>T | CA354160854 | CASR | c.2595G>T (p.Glu865Asp) c.2856G>T (p.Glu952Asp) c.2826G>T (p.Glu942Asp) c.2343G>T (p.Glu781Asp) c.2238G>T (p.Glu746Asp) | ClinVar dbSNP |
| 3 | g.122284781C>A | CA354160855 | CASR | c.2596C>A (p.Gln866Lys) c.2857C>A (p.Gln953Lys) c.2827C>A (p.Gln943Lys) c.2344C>A (p.Gln782Lys) c.2239C>A (p.Gln747Lys) | gnomAD v4 |
| 3 | g.122284781C>G | CA354160856 | CASR | c.2596C>G (p.Gln866Glu) c.2857C>G (p.Gln953Glu) c.2827C>G (p.Gln943Glu) c.2344C>G (p.Gln782Glu) c.2239C>G (p.Gln747Glu) | |
| 3 | g.122284781C>T | CA354160857 | CASR | c.2596C>T (p.Gln866Ter) c.2857C>T (p.Gln953Ter) c.2827C>T (p.Gln943Ter) c.2344C>T (p.Gln782Ter) c.2239C>T (p.Gln747Ter) | |
| 3 | g.122284782A>C | CA354160858 | CASR | c.2597A>C (p.Gln866Pro) c.2858A>C (p.Gln953Pro) c.2828A>C (p.Gln943Pro) c.2345A>C (p.Gln782Pro) c.2240A>C (p.Gln747Pro) | |
| 3 | g.122284782A>G | CA354160860 | CASR | c.2597A>G (p.Gln866Arg) c.2858A>G (p.Gln953Arg) c.2828A>G (p.Gln943Arg) c.2345A>G (p.Gln782Arg) c.2240A>G (p.Gln747Arg) | |
| 3 | g.122284782A>T | CA354160859 | CASR | c.2597A>T (p.Gln866Leu) c.2858A>T (p.Gln953Leu) c.2828A>T (p.Gln943Leu) c.2345A>T (p.Gln782Leu) c.2240A>T (p.Gln747Leu) | ClinVar |
| 3 | g.122284783G>A | CA2569873 | CASR | c.2598G>A (p.Gln866=) c.2859G>A (p.Gln953=) c.2829G>A (p.Gln943=) c.2346G>A (p.Gln782=) c.2241G>A (p.Gln747=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284783G>C | CA354160861 | CASR | c.2598G>C (p.Gln866His) c.2859G>C (p.Gln953His) c.2829G>C (p.Gln943His) c.2346G>C (p.Gln782His) c.2241G>C (p.Gln747His) | |
| 3 | g.122284783G= | CA1397872948 | CASR | c.2598G= (p.Gln866=) c.2859G= (p.Gln953=) c.2829G= (p.Gln943=) c.2346G= (p.Gln782=) c.2241G= (p.Gln747=) | |
| 3 | g.122284783G>T | CA354160862 | CASR | c.2598G>T (p.Gln866His) c.2859G>T (p.Gln953His) c.2829G>T (p.Gln943His) c.2346G>T (p.Gln782His) c.2241G>T (p.Gln747His) | |
| 3 | g.122284784C>A | CA354160863 | CASR | c.2599C>A (p.Gln867Lys) c.2860C>A (p.Gln954Lys) c.2830C>A (p.Gln944Lys) c.2347C>A (p.Gln783Lys) c.2242C>A (p.Gln748Lys) | ClinVar dbSNP |
| 3 | g.122284784C>G | CA354160864 | CASR | c.2599C>G (p.Gln867Glu) c.2860C>G (p.Gln954Glu) c.2830C>G (p.Gln944Glu) c.2347C>G (p.Gln783Glu) c.2242C>G (p.Gln748Glu) | |
| 3 | g.122284784C>T | CA354160865 | CASR | c.2599C>T (p.Gln867Ter) c.2860C>T (p.Gln954Ter) c.2830C>T (p.Gln944Ter) c.2347C>T (p.Gln783Ter) c.2242C>T (p.Gln748Ter) | ClinVar gnomAD v4 |
| 3 | g.122284796_122284834dup | CA545962776 | CASR | c.2611_2649dup (p.Pro883_Arg884insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) c.2872_2910dup (p.Pro970_Arg971insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) c.2842_2880dup (p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) c.2359_2397dup (p.Pro799_Arg800insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) c.2254_2292dup (p.Pro764_Arg765insLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnPro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284785A>C | CA354160868 | CASR | c.2600A>C (p.Gln867Pro) c.2861A>C (p.Gln954Pro) c.2831A>C (p.Gln944Pro) c.2348A>C (p.Gln783Pro) c.2243A>C (p.Gln748Pro) | |
| 3 | g.122284785A>G | CA354160866 | CASR | c.2600A>G (p.Gln867Arg) c.2861A>G (p.Gln954Arg) c.2831A>G (p.Gln944Arg) c.2348A>G (p.Gln783Arg) c.2243A>G (p.Gln748Arg) | ClinVar gnomAD v4 |
| 3 | g.122284785A>T | CA354160867 | CASR | c.2600A>T (p.Gln867Leu) c.2861A>T (p.Gln954Leu) c.2831A>T (p.Gln944Leu) c.2348A>T (p.Gln783Leu) c.2243A>T (p.Gln748Leu) | |
| 3 | g.122284786G>A | CA435425508 | CASR | c.2601G>A (p.Gln867=) c.2862G>A (p.Gln954=) c.2832G>A (p.Gln944=) c.2349G>A (p.Gln783=) c.2244G>A (p.Gln748=) | gnomAD v4 |
| 3 | g.122284786G>C | CA354160869 | CASR | c.2601G>C (p.Gln867His) c.2862G>C (p.Gln954His) c.2832G>C (p.Gln944His) c.2349G>C (p.Gln783His) c.2244G>C (p.Gln748His) | |
| 3 | g.122284786G= | CA1397872950 | CASR | c.2601G= (p.Gln867=) c.2862G= (p.Gln954=) c.2832G= (p.Gln944=) c.2349G= (p.Gln783=) c.2244G= (p.Gln748=) | |
| 3 | g.122284786G>T | CA354160870 | CASR | c.2601G>T (p.Gln867His) c.2862G>T (p.Gln954His) c.2832G>T (p.Gln944His) c.2349G>T (p.Gln783His) c.2244G>T (p.Gln748His) | |
| 3 | g.122284787C>A | CA354160871 | CASR | c.2602C>A (p.Gln868Lys) c.2863C>A (p.Gln955Lys) c.2833C>A (p.Gln945Lys) c.2350C>A (p.Gln784Lys) c.2245C>A (p.Gln749Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284787C>G | CA354160872 | CASR | c.2602C>G (p.Gln868Glu) c.2863C>G (p.Gln955Glu) c.2833C>G (p.Gln945Glu) c.2350C>G (p.Gln784Glu) c.2245C>G (p.Gln749Glu) | |
| 3 | g.122284787C>T | CA354160873 | CASR | c.2602C>T (p.Gln868Ter) c.2863C>T (p.Gln955Ter) c.2833C>T (p.Gln945Ter) c.2350C>T (p.Gln784Ter) c.2245C>T (p.Gln749Ter) | |
| 3 | g.122284794_122284814dup | CA916082595 | CASR | c.2609_2629dup (p.Gln876_Gln877insProLeuThrLeuProGlnGln) c.2870_2890dup (p.Gln963_Gln964insProLeuThrLeuProGlnGln) c.2840_2860dup (p.Gln953_Gln954insProLeuThrLeuProGlnGln) c.2357_2377dup (p.Gln792_Gln793insProLeuThrLeuProGlnGln) c.2252_2272dup (p.Gln757_Gln758insProLeuThrLeuProGlnGln) | ClinVar dbSNP |
| 3 | g.122284788A>C | CA354160874 | CASR | c.2603A>C (p.Gln868Pro) c.2864A>C (p.Gln955Pro) c.2834A>C (p.Gln945Pro) c.2351A>C (p.Gln784Pro) c.2246A>C (p.Gln749Pro) | |
| 3 | g.122284788A>G | CA354160876 | CASR | c.2603A>G (p.Gln868Arg) c.2864A>G (p.Gln955Arg) c.2834A>G (p.Gln945Arg) c.2351A>G (p.Gln784Arg) c.2246A>G (p.Gln749Arg) | |
| 3 | g.122284788A>T | CA354160875 | CASR | c.2603A>T (p.Gln868Leu) c.2864A>T (p.Gln955Leu) c.2834A>T (p.Gln945Leu) c.2351A>T (p.Gln784Leu) c.2246A>T (p.Gln749Leu) | |
| 3 | g.122284789G>A | CA435425517 | CASR | c.2604G>A (p.Gln868=) c.2865G>A (p.Gln955=) c.2835G>A (p.Gln945=) c.2352G>A (p.Gln784=) c.2247G>A (p.Gln749=) | ClinVar |
| 3 | g.122284789G>C | CA354160877 | CASR | c.2604G>C (p.Gln868His) c.2865G>C (p.Gln955His) c.2835G>C (p.Gln945His) c.2352G>C (p.Gln784His) c.2247G>C (p.Gln749His) | |
| 3 | g.122284789G>T | CA354160878 | CASR | c.2604G>T (p.Gln868His) c.2865G>T (p.Gln955His) c.2835G>T (p.Gln945His) c.2352G>T (p.Gln784His) c.2247G>T (p.Gln749His) | |
| 3 | g.122284790C>A | CA354160879 | CASR | c.2605C>A (p.Gln869Lys) c.2866C>A (p.Gln956Lys) c.2836C>A (p.Gln946Lys) c.2353C>A (p.Gln785Lys) c.2248C>A (p.Gln750Lys) | |
| 3 | g.122284790C>G | CA354160880 | CASR | c.2605C>G (p.Gln869Glu) c.2866C>G (p.Gln956Glu) c.2836C>G (p.Gln946Glu) c.2353C>G (p.Gln785Glu) c.2248C>G (p.Gln750Glu) | |
| 3 | g.122284790C>T | CA354160881 | CASR | c.2605C>T (p.Gln869Ter) c.2866C>T (p.Gln956Ter) c.2836C>T (p.Gln946Ter) c.2353C>T (p.Gln785Ter) c.2248C>T (p.Gln750Ter) | |
| 3 | g.122284791A>C | CA354160882 | CASR | c.2606A>C (p.Gln869Pro) c.2867A>C (p.Gln956Pro) c.2837A>C (p.Gln946Pro) c.2354A>C (p.Gln785Pro) c.2249A>C (p.Gln750Pro) | |
| 3 | g.122284791A>G | CA354160883 | CASR | c.2606A>G (p.Gln869Arg) c.2867A>G (p.Gln956Arg) c.2837A>G (p.Gln946Arg) c.2354A>G (p.Gln785Arg) c.2249A>G (p.Gln750Arg) | |
| 3 | g.122284791A>T | CA354160884 | CASR | c.2606A>T (p.Gln869Leu) c.2867A>T (p.Gln956Leu) c.2837A>T (p.Gln946Leu) c.2354A>T (p.Gln785Leu) c.2249A>T (p.Gln750Leu) | |
| 3 | g.122284792G>A | CA2569874 | CASR | c.2607G>A (p.Gln869=) c.2868G>A (p.Gln956=) c.2838G>A (p.Gln946=) c.2355G>A (p.Gln785=) c.2250G>A (p.Gln750=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284792G>C | CA354160885 | CASR | c.2607G>C (p.Gln869His) c.2868G>C (p.Gln956His) c.2838G>C (p.Gln946His) c.2355G>C (p.Gln785His) c.2250G>C (p.Gln750His) | |
| 3 | g.122284792G= | CA1397872953 | CASR | c.2607G= (p.Gln869=) c.2868G= (p.Gln956=) c.2838G= (p.Gln946=) c.2355G= (p.Gln785=) c.2250G= (p.Gln750=) | |
| 3 | g.122284792G>T | CA354160886 | CASR | c.2607G>T (p.Gln869His) c.2868G>T (p.Gln956His) c.2838G>T (p.Gln946His) c.2355G>T (p.Gln785His) c.2250G>T (p.Gln750His) | |
| 3 | g.122284793C>A | CA354160887 | CASR | c.2608C>A (p.Pro870Thr) c.2869C>A (p.Pro957Thr) c.2839C>A (p.Pro947Thr) c.2356C>A (p.Pro786Thr) c.2251C>A (p.Pro751Thr) | |
| 3 | g.122284793C= | CA1397872954 | CASR | c.2608C= (p.Pro870=) c.2869C= (p.Pro957=) c.2839C= (p.Pro947=) c.2356C= (p.Pro786=) c.2251C= (p.Pro751=) | |
| 3 | g.122284793C>G | CA354160888 | CASR | c.2608C>G (p.Pro870Ala) c.2869C>G (p.Pro957Ala) c.2839C>G (p.Pro947Ala) c.2356C>G (p.Pro786Ala) c.2251C>G (p.Pro751Ala) | |
| 3 | g.122284793C>T | CA2569875 | CASR | c.2608C>T (p.Pro870Ser) c.2869C>T (p.Pro957Ser) c.2839C>T (p.Pro947Ser) c.2356C>T (p.Pro786Ser) c.2251C>T (p.Pro751Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284794C>A | CA354160890 | CASR | c.2609C>A (p.Pro870His) c.2870C>A (p.Pro957His) c.2840C>A (p.Pro947His) c.2357C>A (p.Pro786His) c.2252C>A (p.Pro751His) | ClinVar dbSNP |
| 3 | g.122284794C= | CA1397872956 | CASR | c.2609C= (p.Pro870=) c.2870C= (p.Pro957=) c.2840C= (p.Pro947=) c.2357C= (p.Pro786=) c.2252C= (p.Pro751=) | |
| 3 | g.122284794C>G | CA354160889 | CASR | c.2609C>G (p.Pro870Arg) c.2870C>G (p.Pro957Arg) c.2840C>G (p.Pro947Arg) c.2357C>G (p.Pro786Arg) c.2252C>G (p.Pro751Arg) | |
| 3 | g.122284794C>T | CA2569876 | CASR | c.2609C>T (p.Pro870Leu) c.2870C>T (p.Pro957Leu) c.2840C>T (p.Pro947Leu) c.2357C>T (p.Pro786Leu) c.2252C>T (p.Pro751Leu) | dbSNP ExAC gnomAD v2 |
| 3 | g.122284795C>A | CA435425529 | CASR | c.2610C>A (p.Pro870=) c.2871C>A (p.Pro957=) c.2841C>A (p.Pro947=) c.2358C>A (p.Pro786=) c.2253C>A (p.Pro751=) | |
| 3 | g.122284795C= | CA1397872958 | CASR | c.2610C= (p.Pro870=) c.2871C= (p.Pro957=) c.2841C= (p.Pro947=) c.2358C= (p.Pro786=) c.2253C= (p.Pro751=) | |
| 3 | g.122284795C>G | CA435425530 | CASR | c.2610C>G (p.Pro870=) c.2871C>G (p.Pro957=) c.2841C>G (p.Pro947=) c.2358C>G (p.Pro786=) c.2253C>G (p.Pro751=) | ClinVar dbSNP |
| 3 | g.122284795C>T | CA435425531 | CASR | c.2610C>T (p.Pro870=) c.2871C>T (p.Pro957=) c.2841C>T (p.Pro947=) c.2358C>T (p.Pro786=) c.2253C>T (p.Pro751=) | |
| 3 | g.122284796C>A | CA354160891 | CASR | c.2611C>A (p.Leu871Met) c.2872C>A (p.Leu958Met) c.2842C>A (p.Leu948Met) c.2359C>A (p.Leu787Met) c.2254C>A (p.Leu752Met) | |
| 3 | g.122284796C>G | CA354160892 | CASR | c.2611C>G (p.Leu871Val) c.2872C>G (p.Leu958Val) c.2842C>G (p.Leu948Val) c.2359C>G (p.Leu787Val) c.2254C>G (p.Leu752Val) | |
| 3 | g.122284796C>T | CA435425533 | CASR | c.2611C>T (p.Leu871=) c.2872C>T (p.Leu958=) c.2842C>T (p.Leu948=) c.2359C>T (p.Leu787=) c.2254C>T (p.Leu752=) | ClinVar |
| 3 | g.122284797T>A | CA354160893 | CASR | c.2612T>A (p.Leu871Gln) c.2873T>A (p.Leu958Gln) c.2843T>A (p.Leu948Gln) c.2360T>A (p.Leu787Gln) c.2255T>A (p.Leu752Gln) | |
| 3 | g.122284797T>C | CA2569877 | CASR | c.2612T>C (p.Leu871Pro) c.2873T>C (p.Leu958Pro) c.2843T>C (p.Leu948Pro) c.2360T>C (p.Leu787Pro) c.2255T>C (p.Leu752Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284797T>G | CA354160894 | CASR | c.2612T>G (p.Leu871Arg) c.2873T>G (p.Leu958Arg) c.2843T>G (p.Leu948Arg) c.2360T>G (p.Leu787Arg) c.2255T>G (p.Leu752Arg) | |
| 3 | g.122284797T= | CA1397872959 | CASR | c.2612T= (p.Leu871=) c.2873T= (p.Leu958=) c.2843T= (p.Leu948=) c.2360T= (p.Leu787=) c.2255T= (p.Leu752=) | |
| 3 | g.122284798G>A | CA2569878 | CASR | c.2613G>A (p.Leu871=) c.2874G>A (p.Leu958=) c.2844G>A (p.Leu948=) c.2361G>A (p.Leu787=) c.2256G>A (p.Leu752=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284798G>C | CA435425536 | CASR | c.2613G>C (p.Leu871=) c.2874G>C (p.Leu958=) c.2844G>C (p.Leu948=) c.2361G>C (p.Leu787=) c.2256G>C (p.Leu752=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284798G= | CA1397872961 | CASR | c.2613G= (p.Leu871=) c.2874G= (p.Leu958=) c.2844G= (p.Leu948=) c.2361G= (p.Leu787=) c.2256G= (p.Leu752=) | |
| 3 | g.122284798G>T | CA435425534 | CASR | c.2613G>T (p.Leu871=) c.2874G>T (p.Leu958=) c.2844G>T (p.Leu948=) c.2361G>T (p.Leu787=) c.2256G>T (p.Leu752=) | |
| 3 | g.122284799A= | CA1397872962 | CASR | c.2614A= (p.Thr872=) c.2875A= (p.Thr959=) c.2845A= (p.Thr949=) c.2362A= (p.Thr788=) c.2257A= (p.Thr753=) | |
| 3 | g.122284799A>C | CA354160895 | CASR | c.2614A>C (p.Thr872Pro) c.2875A>C (p.Thr959Pro) c.2845A>C (p.Thr949Pro) c.2362A>C (p.Thr788Pro) c.2257A>C (p.Thr753Pro) | |
| 3 | g.122284799A>G | CA2569879 | CASR | c.2614A>G (p.Thr872Ala) c.2875A>G (p.Thr959Ala) c.2845A>G (p.Thr949Ala) c.2362A>G (p.Thr788Ala) c.2257A>G (p.Thr753Ala) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.122284799A>T | CA354160896 | CASR | c.2614A>T (p.Thr872Ser) c.2875A>T (p.Thr959Ser) c.2845A>T (p.Thr949Ser) c.2362A>T (p.Thr788Ser) c.2257A>T (p.Thr753Ser) | |
| 3 | g.122284800C>A | CA354160897 | CASR | c.2615C>A (p.Thr872Asn) c.2876C>A (p.Thr959Asn) c.2846C>A (p.Thr949Asn) c.2363C>A (p.Thr788Asn) c.2258C>A (p.Thr753Asn) | ClinVar |
| 3 | g.122284800C>G | CA354160898 | CASR | c.2615C>G (p.Thr872Ser) c.2876C>G (p.Thr959Ser) c.2846C>G (p.Thr949Ser) c.2363C>G (p.Thr788Ser) c.2258C>G (p.Thr753Ser) | |
| 3 | g.122284800C>T | CA354160899 | CASR | c.2615C>T (p.Thr872Ile) c.2876C>T (p.Thr959Ile) c.2846C>T (p.Thr949Ile) c.2363C>T (p.Thr788Ile) c.2258C>T (p.Thr753Ile) | |
| 3 | g.122284801C>A | CA435425538 | CASR | c.2616C>A (p.Thr872=) c.2877C>A (p.Thr959=) c.2847C>A (p.Thr949=) c.2364C>A (p.Thr788=) c.2259C>A (p.Thr753=) | |
| 3 | g.122284801C= | CA1397872963 | CASR | c.2616C= (p.Thr872=) c.2877C= (p.Thr959=) c.2847C= (p.Thr949=) c.2364C= (p.Thr788=) c.2259C= (p.Thr753=) | |
| 3 | g.122284801C>G | CA435425539 | CASR | c.2616C>G (p.Thr872=) c.2877C>G (p.Thr959=) c.2847C>G (p.Thr949=) c.2364C>G (p.Thr788=) c.2259C>G (p.Thr753=) | |
| 3 | g.122284801C>T | CA435425540 | CASR | c.2616C>T (p.Thr872=) c.2877C>T (p.Thr959=) c.2847C>T (p.Thr949=) c.2364C>T (p.Thr788=) c.2259C>T (p.Thr753=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284802C>A | CA354160902 | CASR | c.2617C>A (p.Leu873Ile) c.2878C>A (p.Leu960Ile) c.2848C>A (p.Leu950Ile) c.2365C>A (p.Leu789Ile) c.2260C>A (p.Leu754Ile) | |
| 3 | g.122284802C>G | CA354160900 | CASR | c.2617C>G (p.Leu873Val) c.2878C>G (p.Leu960Val) c.2848C>G (p.Leu950Val) c.2365C>G (p.Leu789Val) c.2260C>G (p.Leu754Val) | |
| 3 | g.122284802C>T | CA354160901 | CASR | c.2617C>T (p.Leu873Phe) c.2878C>T (p.Leu960Phe) c.2848C>T (p.Leu950Phe) c.2365C>T (p.Leu789Phe) c.2260C>T (p.Leu754Phe) | ClinVar |
| 3 | g.122284803T>A | CA354160903 | CASR | c.2618T>A (p.Leu873His) c.2879T>A (p.Leu960His) c.2849T>A (p.Leu950His) c.2366T>A (p.Leu789His) c.2261T>A (p.Leu754His) | |
| 3 | g.122284803T>C | CA2569880 | CASR | c.2618T>C (p.Leu873Pro) c.2879T>C (p.Leu960Pro) c.2849T>C (p.Leu950Pro) c.2366T>C (p.Leu789Pro) c.2261T>C (p.Leu754Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284803T>G | CA354160904 | CASR | c.2618T>G (p.Leu873Arg) c.2879T>G (p.Leu960Arg) c.2849T>G (p.Leu950Arg) c.2366T>G (p.Leu789Arg) c.2261T>G (p.Leu754Arg) | |
| 3 | g.122284803T= | CA1397872964 | CASR | c.2618T= (p.Leu873=) c.2879T= (p.Leu960=) c.2849T= (p.Leu950=) c.2366T= (p.Leu789=) c.2261T= (p.Leu754=) | |
| 3 | g.122284804C>A | CA435425655 | CASR | c.2619C>A (p.Leu873=) c.2880C>A (p.Leu960=) c.2850C>A (p.Leu950=) c.2367C>A (p.Leu789=) c.2262C>A (p.Leu754=) | |
| 3 | g.122284804C>G | CA435425656 | CASR | c.2619C>G (p.Leu873=) c.2880C>G (p.Leu960=) c.2850C>G (p.Leu950=) c.2367C>G (p.Leu789=) c.2262C>G (p.Leu754=) | |
| 3 | g.122284804C>T | CA435425657 | CASR | c.2619C>T (p.Leu873=) c.2880C>T (p.Leu960=) c.2850C>T (p.Leu950=) c.2367C>T (p.Leu789=) c.2262C>T (p.Leu754=) | |
| 3 | g.122284805_122284806dup | CA82749310 | CASR | c.2620_2621dup (p.Gln875HisfsTer27) c.2881_2882dup (p.Gln962HisfsTer27) c.2851_2852dup (p.Gln952HisfsTer27) c.2368_2369dup (p.Gln791HisfsTer27) c.2263_2264dup (p.Gln756HisfsTer27) | dbSNP |
| 3 | g.122284805C>A | CA82749313 | CASR | c.2620C>A (p.Pro874Thr) c.2881C>A (p.Pro961Thr) c.2851C>A (p.Pro951Thr) c.2368C>A (p.Pro790Thr) c.2263C>A (p.Pro755Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284805C= | CA1397872966 | CASR | c.2620C= (p.Pro874=) c.2881C= (p.Pro961=) c.2851C= (p.Pro951=) c.2368C= (p.Pro790=) c.2263C= (p.Pro755=) | |
| 3 | g.122284805C>G | CA354160905 | CASR | c.2620C>G (p.Pro874Ala) c.2881C>G (p.Pro961Ala) c.2851C>G (p.Pro951Ala) c.2368C>G (p.Pro790Ala) c.2263C>G (p.Pro755Ala) | |
| 3 | g.122284805C>T | CA354160906 | CASR | c.2620C>T (p.Pro874Ser) c.2881C>T (p.Pro961Ser) c.2851C>T (p.Pro951Ser) c.2368C>T (p.Pro790Ser) c.2263C>T (p.Pro755Ser) | |
| 3 | g.122284806C>A | CA354160907 | CASR | c.2621C>A (p.Pro874Gln) c.2882C>A (p.Pro961Gln) c.2852C>A (p.Pro951Gln) c.2369C>A (p.Pro790Gln) c.2264C>A (p.Pro755Gln) | |
| 3 | g.122284806C>G | CA354160908 | CASR | c.2621C>G (p.Pro874Arg) c.2882C>G (p.Pro961Arg) c.2852C>G (p.Pro951Arg) c.2369C>G (p.Pro790Arg) c.2264C>G (p.Pro755Arg) | ClinVar |
| 3 | g.122284806C>T | CA354160909 | CASR | c.2621C>T (p.Pro874Leu) c.2882C>T (p.Pro961Leu) c.2852C>T (p.Pro951Leu) c.2369C>T (p.Pro790Leu) c.2264C>T (p.Pro755Leu) | ClinVar gnomAD v4 |
| 3 | g.122284807A= | CA1397872968 | CASR | c.2622A= (p.Pro874=) c.2883A= (p.Pro961=) c.2853A= (p.Pro951=) c.2370A= (p.Pro790=) c.2265A= (p.Pro755=) | |
| 3 | g.122284807A>C | CA435425659 | CASR | c.2622A>C (p.Pro874=) c.2883A>C (p.Pro961=) c.2853A>C (p.Pro951=) c.2370A>C (p.Pro790=) c.2265A>C (p.Pro755=) | dbSNP |
| 3 | g.122284807A>G | CA435425660 | CASR | c.2622A>G (p.Pro874=) c.2883A>G (p.Pro961=) c.2853A>G (p.Pro951=) c.2370A>G (p.Pro790=) c.2265A>G (p.Pro755=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284807A>T | CA435425661 | CASR | c.2622A>T (p.Pro874=) c.2883A>T (p.Pro961=) c.2853A>T (p.Pro951=) c.2370A>T (p.Pro790=) c.2265A>T (p.Pro755=) | |
| 3 | g.122284808C>A | CA354160910 | CASR | c.2623C>A (p.Gln875Lys) c.2884C>A (p.Gln962Lys) c.2854C>A (p.Gln952Lys) c.2371C>A (p.Gln791Lys) c.2266C>A (p.Gln756Lys) | |
| 3 | g.122284808C>G | CA354160911 | CASR | c.2623C>G (p.Gln875Glu) c.2884C>G (p.Gln962Glu) c.2854C>G (p.Gln952Glu) c.2371C>G (p.Gln791Glu) c.2266C>G (p.Gln756Glu) | |
| 3 | g.122284808C>T | CA354160912 | CASR | c.2623C>T (p.Gln875Ter) c.2884C>T (p.Gln962Ter) c.2854C>T (p.Gln952Ter) c.2371C>T (p.Gln791Ter) c.2266C>T (p.Gln756Ter) | |
| 3 | g.122284809A>C | CA354160915 | CASR | c.2624A>C (p.Gln875Pro) c.2885A>C (p.Gln962Pro) c.2855A>C (p.Gln952Pro) c.2372A>C (p.Gln791Pro) c.2267A>C (p.Gln756Pro) | |
| 3 | g.122284809A>G | CA354160914 | CASR | c.2624A>G (p.Gln875Arg) c.2885A>G (p.Gln962Arg) c.2855A>G (p.Gln952Arg) c.2372A>G (p.Gln791Arg) c.2267A>G (p.Gln756Arg) | |
| 3 | g.122284809A>T | CA354160913 | CASR | c.2624A>T (p.Gln875Leu) c.2885A>T (p.Gln962Leu) c.2855A>T (p.Gln952Leu) c.2372A>T (p.Gln791Leu) c.2267A>T (p.Gln756Leu) | |
| 3 | g.122284810G>A | CA435425665 | CASR | c.2625G>A (p.Gln875=) c.2886G>A (p.Gln962=) c.2856G>A (p.Gln952=) c.2373G>A (p.Gln791=) c.2268G>A (p.Gln756=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284810G>C | CA354160917 | CASR | c.2625G>C (p.Gln875His) c.2886G>C (p.Gln962His) c.2856G>C (p.Gln952His) c.2373G>C (p.Gln791His) c.2268G>C (p.Gln756His) | |
| 3 | g.122284810G= | CA1397872970 | CASR | c.2625G= (p.Gln875=) c.2886G= (p.Gln962=) c.2856G= (p.Gln952=) c.2373G= (p.Gln791=) c.2268G= (p.Gln756=) | |
| 3 | g.122284810G>T | CA354160916 | CASR | c.2625G>T (p.Gln875His) c.2886G>T (p.Gln962His) c.2856G>T (p.Gln952His) c.2373G>T (p.Gln791His) c.2268G>T (p.Gln756His) | |
| 3 | g.122284811C>A | CA354160918 | CASR | c.2626C>A (p.Gln876Lys) c.2887C>A (p.Gln963Lys) c.2857C>A (p.Gln953Lys) c.2374C>A (p.Gln792Lys) c.2269C>A (p.Gln757Lys) | COSMIC |
| 3 | g.122284811C= | CA1397872971 | CASR | c.2626C= (p.Gln876=) c.2887C= (p.Gln963=) c.2857C= (p.Gln953=) c.2374C= (p.Gln792=) c.2269C= (p.Gln757=) | |
| 3 | g.122284811C>G | CA2569881 | CASR | c.2626C>G (p.Gln876Glu) c.2887C>G (p.Gln963Glu) c.2857C>G (p.Gln953Glu) c.2374C>G (p.Gln792Glu) c.2269C>G (p.Gln757Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284811C>T | CA354160919 | CASR | c.2626C>T (p.Gln876Ter) c.2887C>T (p.Gln963Ter) c.2857C>T (p.Gln953Ter) c.2374C>T (p.Gln792Ter) c.2269C>T (p.Gln757Ter) | |
| 3 | g.122284812A>C | CA354160920 | CASR | c.2627A>C (p.Gln876Pro) c.2888A>C (p.Gln963Pro) c.2858A>C (p.Gln953Pro) c.2375A>C (p.Gln792Pro) c.2270A>C (p.Gln757Pro) | |
| 3 | g.122284812A>G | CA354160921 | CASR | c.2627A>G (p.Gln876Arg) c.2888A>G (p.Gln963Arg) c.2858A>G (p.Gln953Arg) c.2375A>G (p.Gln792Arg) c.2270A>G (p.Gln757Arg) | gnomAD v4 |
| 3 | g.122284812A>T | CA354160922 | CASR | c.2627A>T (p.Gln876Leu) c.2888A>T (p.Gln963Leu) c.2858A>T (p.Gln953Leu) c.2375A>T (p.Gln792Leu) c.2270A>T (p.Gln757Leu) | |
| 3 | g.122284813G>A | CA435425668 | CASR | c.2628G>A (p.Gln876=) c.2889G>A (p.Gln963=) c.2859G>A (p.Gln953=) c.2376G>A (p.Gln792=) c.2271G>A (p.Gln757=) | |
| 3 | g.122284813G>C | CA354160923 | CASR | c.2628G>C (p.Gln876His) c.2889G>C (p.Gln963His) c.2859G>C (p.Gln953His) c.2376G>C (p.Gln792His) c.2271G>C (p.Gln757His) | |
| 3 | g.122284813G>T | CA354160924 | CASR | c.2628G>T (p.Gln876His) c.2889G>T (p.Gln963His) c.2859G>T (p.Gln953His) c.2376G>T (p.Gln792His) c.2271G>T (p.Gln757His) | |
| 3 | g.122284814C>A | CA354160925 | CASR | c.2629C>A (p.Gln877Lys) c.2890C>A (p.Gln964Lys) c.2860C>A (p.Gln954Lys) c.2377C>A (p.Gln793Lys) c.2272C>A (p.Gln758Lys) | |
| 3 | g.122284814C>G | CA354160926 | CASR | c.2629C>G (p.Gln877Glu) c.2890C>G (p.Gln964Glu) c.2860C>G (p.Gln954Glu) c.2377C>G (p.Gln793Glu) c.2272C>G (p.Gln758Glu) | |
| 3 | g.122284814C>T | CA354160927 | CASR | c.2629C>T (p.Gln877Ter) c.2890C>T (p.Gln964Ter) c.2860C>T (p.Gln954Ter) c.2377C>T (p.Gln793Ter) c.2272C>T (p.Gln758Ter) | |
| 3 | g.122284815A>C | CA354160929 | CASR | c.2630A>C (p.Gln877Pro) c.2891A>C (p.Gln964Pro) c.2861A>C (p.Gln954Pro) c.2378A>C (p.Gln793Pro) c.2273A>C (p.Gln758Pro) | |
| 3 | g.122284815A>G | CA354160930 | CASR | c.2630A>G (p.Gln877Arg) c.2891A>G (p.Gln964Arg) c.2861A>G (p.Gln954Arg) c.2378A>G (p.Gln793Arg) c.2273A>G (p.Gln758Arg) | |
| 3 | g.122284815A>T | CA354160928 | CASR | c.2630A>T (p.Gln877Leu) c.2891A>T (p.Gln964Leu) c.2861A>T (p.Gln954Leu) c.2378A>T (p.Gln793Leu) c.2273A>T (p.Gln758Leu) | |
| 3 | g.122284816A= | CA1397872972 | CASR | c.2631A= (p.Gln877=) c.2892A= (p.Gln964=) c.2862A= (p.Gln954=) c.2379A= (p.Gln793=) c.2274A= (p.Gln758=) | |
| 3 | g.122284816A>C | CA354160931 | CASR | c.2631A>C (p.Gln877His) c.2892A>C (p.Gln964His) c.2862A>C (p.Gln954His) c.2379A>C (p.Gln793His) c.2274A>C (p.Gln758His) | |
| 3 | g.122284816A>G | CA2569882 | CASR | c.2631A>G (p.Gln877=) c.2892A>G (p.Gln964=) c.2862A>G (p.Gln954=) c.2379A>G (p.Gln793=) c.2274A>G (p.Gln758=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284816A>T | CA354160932 | CASR | c.2631A>T (p.Gln877His) c.2892A>T (p.Gln964His) c.2862A>T (p.Gln954His) c.2379A>T (p.Gln793His) c.2274A>T (p.Gln758His) | |
| 3 | g.122284817C>A | CA435425674 | CASR | c.2632C>A (p.Arg878=) c.2893C>A (p.Arg965=) c.2863C>A (p.Arg955=) c.2380C>A (p.Arg794=) c.2275C>A (p.Arg759=) | ClinVar |
| 3 | g.122284817C= | CA1397872973 | CASR | c.2632C= (p.Arg878=) c.2893C= (p.Arg965=) c.2863C= (p.Arg955=) c.2380C= (p.Arg794=) c.2275C= (p.Arg759=) | |
| 3 | g.122284817C>G | CA354160933 | CASR | c.2632C>G (p.Arg878Gly) c.2893C>G (p.Arg965Gly) c.2863C>G (p.Arg955Gly) c.2380C>G (p.Arg794Gly) c.2275C>G (p.Arg759Gly) | |
| 3 | g.122284817C>T | CA354160934 | CASR | c.2632C>T (p.Arg878Ter) c.2893C>T (p.Arg965Ter) c.2863C>T (p.Arg955Ter) c.2380C>T (p.Arg794Ter) c.2275C>T (p.Arg759Ter) | ClinVar dbSNP COSMIC |
| 3 | g.122284818G>A | CA82749315 | CASR | c.2633G>A (p.Arg878Gln) c.2894G>A (p.Arg965Gln) c.2864G>A (p.Arg955Gln) c.2381G>A (p.Arg794Gln) c.2276G>A (p.Arg759Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284818G>C | CA354160935 | CASR | c.2633G>C (p.Arg878Pro) c.2894G>C (p.Arg965Pro) c.2864G>C (p.Arg955Pro) c.2381G>C (p.Arg794Pro) c.2276G>C (p.Arg759Pro) | |
| 3 | g.122284818G= | CA1397872975 | CASR | c.2633G= (p.Arg878=) c.2894G= (p.Arg965=) c.2864G= (p.Arg955=) c.2381G= (p.Arg794=) c.2276G= (p.Arg759=) | |
| 3 | g.122284818G>T | CA354160936 | CASR | c.2633G>T (p.Arg878Leu) c.2894G>T (p.Arg965Leu) c.2864G>T (p.Arg955Leu) c.2381G>T (p.Arg794Leu) c.2276G>T (p.Arg759Leu) | COSMIC |
| 3 | g.122284819A>C | CA435425676 | CASR | c.2634A>C (p.Arg878=) c.2895A>C (p.Arg965=) c.2865A>C (p.Arg955=) c.2382A>C (p.Arg794=) c.2277A>C (p.Arg759=) | |
| 3 | g.122284819A>G | CA435425678 | CASR | c.2634A>G (p.Arg878=) c.2895A>G (p.Arg965=) c.2865A>G (p.Arg955=) c.2382A>G (p.Arg794=) c.2277A>G (p.Arg759=) | |
| 3 | g.122284819A>T | CA435425680 | CASR | c.2634A>T (p.Arg878=) c.2895A>T (p.Arg965=) c.2865A>T (p.Arg955=) c.2382A>T (p.Arg794=) c.2277A>T (p.Arg759=) | |
| 3 | g.122284820T>A | CA354160937 | CASR | c.2635T>A (p.Ser879Thr) c.2896T>A (p.Ser966Thr) c.2866T>A (p.Ser956Thr) c.2383T>A (p.Ser795Thr) c.2278T>A (p.Ser760Thr) | |
| 3 | g.122284820T>C | CA354160938 | CASR | c.2635T>C (p.Ser879Pro) c.2896T>C (p.Ser966Pro) c.2866T>C (p.Ser956Pro) c.2383T>C (p.Ser795Pro) c.2278T>C (p.Ser760Pro) | |
| 3 | g.122284820T>G | CA354160939 | CASR | c.2635T>G (p.Ser879Ala) c.2896T>G (p.Ser966Ala) c.2866T>G (p.Ser956Ala) c.2383T>G (p.Ser795Ala) c.2278T>G (p.Ser760Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284820T= | CA1397872977 | CASR | c.2635T= (p.Ser879=) c.2896T= (p.Ser966=) c.2866T= (p.Ser956=) c.2383T= (p.Ser795=) c.2278T= (p.Ser760=) | |
| 3 | g.122284822_122284823del | CA2703904610 | CASR | c.2637_2638del (p.Gln880AlafsTer23) c.2898_2899del (p.Gln967AlafsTer23) c.2868_2869del (p.Gln957AlafsTer23) c.2385_2386del (p.Gln796AlafsTer23) c.2280_2281del (p.Gln761AlafsTer23) | dbSNP |
| 3 | g.122284821C>A | CA354160940 | CASR | c.2636C>A (p.Ser879Tyr) c.2897C>A (p.Ser966Tyr) c.2867C>A (p.Ser956Tyr) c.2384C>A (p.Ser795Tyr) c.2279C>A (p.Ser760Tyr) | ClinVar dbSNP |
| 3 | g.122284821C= | CA1397872978 | CASR | c.2636C= (p.Ser879=) c.2897C= (p.Ser966=) c.2867C= (p.Ser956=) c.2384C= (p.Ser795=) c.2279C= (p.Ser760=) | |
| 3 | g.122284821C>G | CA354160941 | CASR | c.2636C>G (p.Ser879Cys) c.2897C>G (p.Ser966Cys) c.2867C>G (p.Ser956Cys) c.2384C>G (p.Ser795Cys) c.2279C>G (p.Ser760Cys) | |
| 3 | g.122284821C>T | CA354160942 | CASR | c.2636C>T (p.Ser879Phe) c.2897C>T (p.Ser966Phe) c.2867C>T (p.Ser956Phe) c.2384C>T (p.Ser795Phe) c.2279C>T (p.Ser760Phe) | gnomAD v4 |
| 3 | g.122284822T>A | CA435425682 | CASR | c.2637T>A (p.Ser879=) c.2898T>A (p.Ser966=) c.2868T>A (p.Ser956=) c.2385T>A (p.Ser795=) c.2280T>A (p.Ser760=) | |
| 3 | g.122284822T>C | CA435425683 | CASR | c.2637T>C (p.Ser879=) c.2898T>C (p.Ser966=) c.2868T>C (p.Ser956=) c.2385T>C (p.Ser795=) c.2280T>C (p.Ser760=) | |
| 3 | g.122284822T>G | CA435425684 | CASR | c.2637T>G (p.Ser879=) c.2898T>G (p.Ser966=) c.2868T>G (p.Ser956=) c.2385T>G (p.Ser795=) c.2280T>G (p.Ser760=) | |
| 3 | g.122284823C>A | CA354160944 | CASR | c.2638C>A (p.Gln880Lys) c.2899C>A (p.Gln967Lys) c.2869C>A (p.Gln957Lys) c.2386C>A (p.Gln796Lys) c.2281C>A (p.Gln761Lys) | |
| 3 | g.122284823C>G | CA354160945 | CASR | c.2638C>G (p.Gln880Glu) c.2899C>G (p.Gln967Glu) c.2869C>G (p.Gln957Glu) c.2386C>G (p.Gln796Glu) c.2281C>G (p.Gln761Glu) | |
| 3 | g.122284823C>T | CA354160943 | CASR | c.2638C>T (p.Gln880Ter) c.2899C>T (p.Gln967Ter) c.2869C>T (p.Gln957Ter) c.2386C>T (p.Gln796Ter) c.2281C>T (p.Gln761Ter) | |
| 3 | g.122284830_122284832del | CA2580616521 | CASR | c.2645_2647del (p.Gln882del) c.2906_2908del (p.Gln969del) c.2876_2878del (p.Gln959del) c.2393_2395del (p.Gln798del) c.2288_2290del (p.Gln763del) | ClinVar dbSNP |
| 3 | g.122284824A= | CA1397872980 | CASR | c.2639A= (p.Gln880=) c.2900A= (p.Gln967=) c.2870A= (p.Gln957=) c.2387A= (p.Gln796=) c.2282A= (p.Gln761=) | |
| 3 | g.122284824A>C | CA354160946 | CASR | c.2639A>C (p.Gln880Pro) c.2900A>C (p.Gln967Pro) c.2870A>C (p.Gln957Pro) c.2387A>C (p.Gln796Pro) c.2282A>C (p.Gln761Pro) | gnomAD v4 |
| 3 | g.122284824A>G | CA2569883 | CASR | c.2639A>G (p.Gln880Arg) c.2900A>G (p.Gln967Arg) c.2870A>G (p.Gln957Arg) c.2387A>G (p.Gln796Arg) c.2282A>G (p.Gln761Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284824A>T | CA354160947 | CASR | c.2639A>T (p.Gln880Leu) c.2900A>T (p.Gln967Leu) c.2870A>T (p.Gln957Leu) c.2387A>T (p.Gln796Leu) c.2282A>T (p.Gln761Leu) | |
| 3 | g.122284825G>A | CA435425688 | CASR | c.2640G>A (p.Gln880=) c.2901G>A (p.Gln967=) c.2871G>A (p.Gln957=) c.2388G>A (p.Gln796=) c.2283G>A (p.Gln761=) | ClinVar |
| 3 | g.122284825G>C | CA82749324 | CASR | c.2640G>C (p.Gln880His) c.2901G>C (p.Gln967His) c.2871G>C (p.Gln957His) c.2388G>C (p.Gln796His) c.2283G>C (p.Gln761His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284825G= | CA1397872982 | CASR | c.2640G= (p.Gln880=) c.2901G= (p.Gln967=) c.2871G= (p.Gln957=) c.2388G= (p.Gln796=) c.2283G= (p.Gln761=) | |
| 3 | g.122284825G>T | CA354160948 | CASR | c.2640G>T (p.Gln880His) c.2901G>T (p.Gln967His) c.2871G>T (p.Gln957His) c.2388G>T (p.Gln796His) c.2283G>T (p.Gln761His) | |
| 3 | g.122284826C>A | CA354160949 | CASR | c.2641C>A (p.Gln881Lys) c.2902C>A (p.Gln968Lys) c.2872C>A (p.Gln958Lys) c.2389C>A (p.Gln797Lys) c.2284C>A (p.Gln762Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284826C= | CA1397872983 | CASR | c.2641C= (p.Gln881=) c.2902C= (p.Gln968=) c.2872C= (p.Gln958=) c.2389C= (p.Gln797=) c.2284C= (p.Gln762=) | |
| 3 | g.122284826C>G | CA354160950 | CASR | c.2641C>G (p.Gln881Glu) c.2902C>G (p.Gln968Glu) c.2872C>G (p.Gln958Glu) c.2389C>G (p.Gln797Glu) c.2284C>G (p.Gln762Glu) | |
| 3 | g.122284826C>T | CA354160951 | CASR | c.2641C>T (p.Gln881Ter) c.2902C>T (p.Gln968Ter) c.2872C>T (p.Gln958Ter) c.2389C>T (p.Gln797Ter) c.2284C>T (p.Gln762Ter) |