| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284484_122284504del | CA2667224655 | CASR | c.2299_2319del (p.Ala767_Ala773del) c.2560_2580del (p.Ala854_Ala860del) c.2530_2550del (p.Ala844_Ala850del) c.2047_2067del (p.Ala683_Ala689del) c.1942_1962del (p.Ala648_Ala654del) | gnomAD v4 |
| 3 | g.122284487_122284499del | CA2573136466 | CASR | c.2302_2314del (p.Ser768TrpfsTer?) c.2563_2575del (p.Ser855TrpfsTer?) c.2533_2545del (p.Ser845TrpfsTer?) c.2050_2062del (p.Ser684TrpfsTer?) c.1945_1957del (p.Ser649TrpfsTer?) | ClinVar dbSNP |
| 3 | g.122284494G>A | CA16617819 | CASR | c.2309G>A (p.Gly770Asp) c.2570G>A (p.Gly857Asp) c.2540G>A (p.Gly847Asp) c.2057G>A (p.Gly686Asp) c.1952G>A (p.Gly651Asp) | ClinVar dbSNP |
| 3 | g.122284494G>C | CA354160229 | CASR | c.2309G>C (p.Gly770Ala) c.2570G>C (p.Gly857Ala) c.2540G>C (p.Gly847Ala) c.2057G>C (p.Gly686Ala) c.1952G>C (p.Gly651Ala) | |
| 3 | g.122284494G= | CA1397872467 | CASR | c.2309G= (p.Gly770=) c.2570G= (p.Gly857=) c.2540G= (p.Gly847=) c.2057G= (p.Gly686=) c.1952G= (p.Gly651=) | |
| 3 | g.122284494G>T | CA354160227 | CASR | c.2309G>T (p.Gly770Val) c.2570G>T (p.Gly857Val) c.2540G>T (p.Gly847Val) c.2057G>T (p.Gly686Val) c.1952G>T (p.Gly651Val) | |
| 3 | g.122284495C>A | CA435425326 | CASR | c.2310C>A (p.Gly770=) c.2571C>A (p.Gly857=) c.2541C>A (p.Gly847=) c.2058C>A (p.Gly686=) c.1953C>A (p.Gly651=) | |
| 3 | g.122284495C>G | CA435425328 | CASR | c.2310C>G (p.Gly770=) c.2571C>G (p.Gly857=) c.2541C>G (p.Gly847=) c.2058C>G (p.Gly686=) c.1953C>G (p.Gly651=) | |
| 3 | g.122284495C>T | CA435425327 | CASR | c.2310C>T (p.Gly770=) c.2571C>T (p.Gly857=) c.2541C>T (p.Gly847=) c.2058C>T (p.Gly686=) c.1953C>T (p.Gly651=) | |
| 3 | g.122284496T>A | CA354160232 | CASR | c.2311T>A (p.Leu771Met) c.2572T>A (p.Leu858Met) c.2542T>A (p.Leu848Met) c.2059T>A (p.Leu687Met) c.1954T>A (p.Leu652Met) | |
| 3 | g.122284496T>C | CA435425329 | CASR | c.2311T>C (p.Leu771=) c.2572T>C (p.Leu858=) c.2542T>C (p.Leu848=) c.2059T>C (p.Leu687=) c.1954T>C (p.Leu652=) | |
| 3 | g.122284496T>G | CA354160234 | CASR | c.2311T>G (p.Leu771Val) c.2572T>G (p.Leu858Val) c.2542T>G (p.Leu848Val) c.2059T>G (p.Leu687Val) c.1954T>G (p.Leu652Val) | |
| 3 | g.122284497T>A | CA354160236 | CASR | c.2312T>A (p.Leu771Ter) c.2573T>A (p.Leu858Ter) c.2543T>A (p.Leu848Ter) c.2060T>A (p.Leu687Ter) c.1955T>A (p.Leu652Ter) | |
| 3 | g.122284497T>C | CA354160237 | CASR | c.2312T>C (p.Leu771Ser) c.2573T>C (p.Leu858Ser) c.2543T>C (p.Leu848Ser) c.2060T>C (p.Leu687Ser) c.1955T>C (p.Leu652Ser) | |
| 3 | g.122284497T>G | CA354160238 | CASR | c.2312T>G (p.Leu771Trp) c.2573T>G (p.Leu858Trp) c.2543T>G (p.Leu848Trp) c.2060T>G (p.Leu687Trp) c.1955T>G (p.Leu652Trp) | |
| 3 | g.122284498G>A | CA435425330 | CASR | c.2313G>A (p.Leu771=) c.2574G>A (p.Leu858=) c.2544G>A (p.Leu848=) c.2061G>A (p.Leu687=) c.1956G>A (p.Leu652=) | |
| 3 | g.122284498G>C | CA354160240 | CASR | c.2313G>C (p.Leu771Phe) c.2574G>C (p.Leu858Phe) c.2544G>C (p.Leu848Phe) c.2061G>C (p.Leu687Phe) c.1956G>C (p.Leu652Phe) | |
| 3 | g.122284498G>T | CA354160242 | CASR | c.2313G>T (p.Leu771Phe) c.2574G>T (p.Leu858Phe) c.2544G>T (p.Leu848Phe) c.2061G>T (p.Leu687Phe) c.1956G>T (p.Leu652Phe) | |
| 3 | g.122284499C>A | CA354160244 | CASR | c.2314C>A (p.Leu772Met) c.2575C>A (p.Leu859Met) c.2545C>A (p.Leu849Met) c.2062C>A (p.Leu688Met) c.1957C>A (p.Leu653Met) | |
| 3 | g.122284499C>G | CA354160246 | CASR | c.2314C>G (p.Leu772Val) c.2575C>G (p.Leu859Val) c.2545C>G (p.Leu849Val) c.2062C>G (p.Leu688Val) c.1957C>G (p.Leu653Val) | ClinVar |
| 3 | g.122284499C>T | CA435425331 | CASR | c.2314C>T (p.Leu772=) c.2575C>T (p.Leu859=) c.2545C>T (p.Leu849=) c.2062C>T (p.Leu688=) c.1957C>T (p.Leu653=) | ClinVar |
| 3 | g.122284500T>A | CA354160248 | CASR | c.2315T>A (p.Leu772Gln) c.2576T>A (p.Leu859Gln) c.2546T>A (p.Leu849Gln) c.2063T>A (p.Leu688Gln) c.1958T>A (p.Leu653Gln) | ClinVar gnomAD v4 |
| 3 | g.122284500T>C | CA354160250 | CASR | c.2315T>C (p.Leu772Pro) c.2576T>C (p.Leu859Pro) c.2546T>C (p.Leu849Pro) c.2063T>C (p.Leu688Pro) c.1958T>C (p.Leu653Pro) | ClinVar dbSNP |
| 3 | g.122284500T>G | CA354160251 | CASR | c.2315T>G (p.Leu772Arg) c.2576T>G (p.Leu859Arg) c.2546T>G (p.Leu849Arg) c.2063T>G (p.Leu688Arg) c.1958T>G (p.Leu653Arg) | |
| 3 | g.122284500T= | CA1397872472 | CASR | c.2315T= (p.Leu772=) c.2576T= (p.Leu859=) c.2546T= (p.Leu849=) c.2063T= (p.Leu688=) c.1958T= (p.Leu653=) | |
| 3 | g.122284501G>A | CA435425332 | CASR | c.2316G>A (p.Leu772=) c.2577G>A (p.Leu859=) c.2547G>A (p.Leu849=) c.2064G>A (p.Leu688=) c.1959G>A (p.Leu653=) | |
| 3 | g.122284501G>C | CA435425333 | CASR | c.2316G>C (p.Leu772=) c.2577G>C (p.Leu859=) c.2547G>C (p.Leu849=) c.2064G>C (p.Leu688=) c.1959G>C (p.Leu653=) | |
| 3 | g.122284501G>T | CA435425334 | CASR | c.2316G>T (p.Leu772=) c.2577G>T (p.Leu859=) c.2547G>T (p.Leu849=) c.2064G>T (p.Leu688=) c.1959G>T (p.Leu653=) | |
| 3 | g.122284502G>A | CA354160258 | CASR | c.2317G>A (p.Ala773Thr) c.2578G>A (p.Ala860Thr) c.2548G>A (p.Ala850Thr) c.2065G>A (p.Ala689Thr) c.1960G>A (p.Ala654Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284502G>C | CA354160256 | CASR | c.2317G>C (p.Ala773Pro) c.2578G>C (p.Ala860Pro) c.2548G>C (p.Ala850Pro) c.2065G>C (p.Ala689Pro) c.1960G>C (p.Ala654Pro) | |
| 3 | g.122284502G= | CA1397872480 | CASR | c.2317G= (p.Ala773=) c.2578G= (p.Ala860=) c.2548G= (p.Ala850=) c.2065G= (p.Ala689=) c.1960G= (p.Ala654=) | |
| 3 | g.122284502G>T | CA354160254 | CASR | c.2317G>T (p.Ala773Ser) c.2578G>T (p.Ala860Ser) c.2548G>T (p.Ala850Ser) c.2065G>T (p.Ala689Ser) c.1960G>T (p.Ala654Ser) | |
| 3 | g.122284503C>A | CA2569831 | CASR | c.2318C>A (p.Ala773Glu) c.2579C>A (p.Ala860Glu) c.2549C>A (p.Ala850Glu) c.2066C>A (p.Ala689Glu) c.1961C>A (p.Ala654Glu) | ClinVar dbSNP ExAC gnomAD v2 |
| 3 | g.122284503C= | CA1397872492 | CASR | c.2318C= (p.Ala773=) c.2579C= (p.Ala860=) c.2549C= (p.Ala850=) c.2066C= (p.Ala689=) c.1961C= (p.Ala654=) | |
| 3 | g.122284503C>G | CA354160262 | CASR | c.2318C>G (p.Ala773Gly) c.2579C>G (p.Ala860Gly) c.2549C>G (p.Ala850Gly) c.2066C>G (p.Ala689Gly) c.1961C>G (p.Ala654Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284503C>T | CA354160261 | CASR | c.2318C>T (p.Ala773Val) c.2579C>T (p.Ala860Val) c.2549C>T (p.Ala850Val) c.2066C>T (p.Ala689Val) c.1961C>T (p.Ala654Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284504G>A | CA82749034 | CASR | c.2319G>A (p.Ala773=) c.2580G>A (p.Ala860=) c.2550G>A (p.Ala850=) c.2067G>A (p.Ala689=) c.1962G>A (p.Ala654=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284504G>C | CA435425336 | CASR | c.2319G>C (p.Ala773=) c.2580G>C (p.Ala860=) c.2550G>C (p.Ala850=) c.2067G>C (p.Ala689=) c.1962G>C (p.Ala654=) | |
| 3 | g.122284504G= | CA1397872498 | CASR | c.2319G= (p.Ala773=) c.2580G= (p.Ala860=) c.2550G= (p.Ala850=) c.2067G= (p.Ala689=) c.1962G= (p.Ala654=) | |
| 3 | g.122284504G>T | CA435425335 | CASR | c.2319G>T (p.Ala773=) c.2580G>T (p.Ala860=) c.2550G>T (p.Ala850=) c.2067G>T (p.Ala689=) c.1962G>T (p.Ala654=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284504_122284505insCCAG | CA2586972872 | CASR | c.2319_2320insCCAG (p.Cys774ProfsTer?) c.2580_2581insCCAG (p.Cys861ProfsTer?) c.2550_2551insCCAG (p.Cys851ProfsTer?) c.2067_2068insCCAG (p.Cys690ProfsTer?) c.1962_1963insCCAG (p.Cys655ProfsTer?) | |
| 3 | g.122284505T>A | CA2569832 | CASR | c.2320T>A (p.Cys774Ser) c.2581T>A (p.Cys861Ser) c.2551T>A (p.Cys851Ser) c.2068T>A (p.Cys690Ser) c.1963T>A (p.Cys655Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284505T>C | CA354160265 | CASR | c.2320T>C (p.Cys774Arg) c.2581T>C (p.Cys861Arg) c.2551T>C (p.Cys851Arg) c.2068T>C (p.Cys690Arg) c.1963T>C (p.Cys655Arg) | |
| 3 | g.122284505T>G | CA354160266 | CASR | c.2320T>G (p.Cys774Gly) c.2581T>G (p.Cys861Gly) c.2551T>G (p.Cys851Gly) c.2068T>G (p.Cys690Gly) c.1963T>G (p.Cys655Gly) | COSMIC |
| 3 | g.122284505T= | CA1397872505 | CASR | c.2320T= (p.Cys774=) c.2581T= (p.Cys861=) c.2551T= (p.Cys851=) c.2068T= (p.Cys690=) c.1963T= (p.Cys655=) | |
| 3 | g.122284506G>A | CA354160267 | CASR | c.2321G>A (p.Cys774Tyr) c.2582G>A (p.Cys861Tyr) c.2552G>A (p.Cys851Tyr) c.2069G>A (p.Cys690Tyr) c.1964G>A (p.Cys655Tyr) | |
| 3 | g.122284506G>C | CA354160268 | CASR | c.2321G>C (p.Cys774Ser) c.2582G>C (p.Cys861Ser) c.2552G>C (p.Cys851Ser) c.2069G>C (p.Cys690Ser) c.1964G>C (p.Cys655Ser) | ClinVar dbSNP |
| 3 | g.122284506G>T | CA354160269 | CASR | c.2321G>T (p.Cys774Phe) c.2582G>T (p.Cys861Phe) c.2552G>T (p.Cys851Phe) c.2069G>T (p.Cys690Phe) c.1964G>T (p.Cys655Phe) | |
| 3 | g.122284507C>A | CA354160270 | CASR | c.2322C>A (p.Cys774Ter) c.2583C>A (p.Cys861Ter) c.2553C>A (p.Cys851Ter) c.2070C>A (p.Cys690Ter) c.1965C>A (p.Cys655Ter) | |
| 3 | g.122284507C>G | CA354160271 | CASR | c.2322C>G (p.Cys774Trp) c.2583C>G (p.Cys861Trp) c.2553C>G (p.Cys851Trp) c.2070C>G (p.Cys690Trp) c.1965C>G (p.Cys655Trp) | ClinVar |
| 3 | g.122284507C>T | CA435425337 | CASR | c.2322C>T (p.Cys774=) c.2583C>T (p.Cys861=) c.2553C>T (p.Cys851=) c.2070C>T (p.Cys690=) c.1965C>T (p.Cys655=) | |
| 3 | g.122284508A>C | CA354160272 | CASR | c.2323A>C (p.Ile775Leu) c.2584A>C (p.Ile862Leu) c.2554A>C (p.Ile852Leu) c.2071A>C (p.Ile691Leu) c.1966A>C (p.Ile656Leu) | gnomAD v4 |
| 3 | g.122284508A>G | CA354160273 | CASR | c.2323A>G (p.Ile775Val) c.2584A>G (p.Ile862Val) c.2554A>G (p.Ile852Val) c.2071A>G (p.Ile691Val) c.1966A>G (p.Ile656Val) | |
| 3 | g.122284508A>T | CA354160274 | CASR | c.2323A>T (p.Ile775Phe) c.2584A>T (p.Ile862Phe) c.2554A>T (p.Ile852Phe) c.2071A>T (p.Ile691Phe) c.1966A>T (p.Ile656Phe) | |
| 3 | g.122284509T>A | CA354160275 | CASR | c.2324T>A (p.Ile775Asn) c.2585T>A (p.Ile862Asn) c.2555T>A (p.Ile852Asn) c.2072T>A (p.Ile691Asn) c.1967T>A (p.Ile656Asn) | |
| 3 | g.122284509T>C | CA354160277 | CASR | c.2324T>C (p.Ile775Thr) c.2585T>C (p.Ile862Thr) c.2555T>C (p.Ile852Thr) c.2072T>C (p.Ile691Thr) c.1967T>C (p.Ile656Thr) | |
| 3 | g.122284509T>G | CA354160276 | CASR | c.2324T>G (p.Ile775Ser) c.2585T>G (p.Ile862Ser) c.2555T>G (p.Ile852Ser) c.2072T>G (p.Ile691Ser) c.1967T>G (p.Ile656Ser) | |
| 3 | g.122284510C>A | CA435425338 | CASR | c.2325C>A (p.Ile775=) c.2586C>A (p.Ile862=) c.2556C>A (p.Ile852=) c.2073C>A (p.Ile691=) c.1968C>A (p.Ile656=) | |
| 3 | g.122284510C= | CA1397872509 | CASR | c.2325C= (p.Ile775=) c.2586C= (p.Ile862=) c.2556C= (p.Ile852=) c.2073C= (p.Ile691=) c.1968C= (p.Ile656=) | |
| 3 | g.122284510C>G | CA354160278 | CASR | c.2325C>G (p.Ile775Met) c.2586C>G (p.Ile862Met) c.2556C>G (p.Ile852Met) c.2073C>G (p.Ile691Met) c.1968C>G (p.Ile656Met) | |
| 3 | g.122284510C>T | CA435425339 | CASR | c.2325C>T (p.Ile775=) c.2586C>T (p.Ile862=) c.2556C>T (p.Ile852=) c.2073C>T (p.Ile691=) c.1968C>T (p.Ile656=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284511T>A | CA354160279 | CASR | c.2326T>A (p.Phe776Ile) c.2587T>A (p.Phe863Ile) c.2557T>A (p.Phe853Ile) c.2074T>A (p.Phe692Ile) c.1969T>A (p.Phe657Ile) | |
| 3 | g.122284511T>C | CA354160280 | CASR | c.2326T>C (p.Phe776Leu) c.2587T>C (p.Phe863Leu) c.2557T>C (p.Phe853Leu) c.2074T>C (p.Phe692Leu) c.1969T>C (p.Phe657Leu) | |
| 3 | g.122284511T>G | CA354160281 | CASR | c.2326T>G (p.Phe776Val) c.2587T>G (p.Phe863Val) c.2557T>G (p.Phe853Val) c.2074T>G (p.Phe692Val) c.1969T>G (p.Phe657Val) | ClinVar dbSNP |
| 3 | g.122284511T= | CA1397872514 | CASR | c.2326T= (p.Phe776=) c.2587T= (p.Phe863=) c.2557T= (p.Phe853=) c.2074T= (p.Phe692=) c.1969T= (p.Phe657=) | |
| 3 | g.122284512T>A | CA354160282 | CASR | c.2327T>A (p.Phe776Tyr) c.2588T>A (p.Phe863Tyr) c.2558T>A (p.Phe853Tyr) c.2075T>A (p.Phe692Tyr) c.1970T>A (p.Phe657Tyr) | |
| 3 | g.122284512T>C | CA354160283 | CASR | c.2327T>C (p.Phe776Ser) c.2588T>C (p.Phe863Ser) c.2558T>C (p.Phe853Ser) c.2075T>C (p.Phe692Ser) c.1970T>C (p.Phe657Ser) | |
| 3 | g.122284512T>G | CA354160284 | CASR | c.2327T>G (p.Phe776Cys) c.2588T>G (p.Phe863Cys) c.2558T>G (p.Phe853Cys) c.2075T>G (p.Phe692Cys) c.1970T>G (p.Phe657Cys) | |
| 3 | g.122284513C>A | CA354160285 | CASR | c.2328C>A (p.Phe776Leu) c.2589C>A (p.Phe863Leu) c.2559C>A (p.Phe853Leu) c.2076C>A (p.Phe692Leu) c.1971C>A (p.Phe657Leu) | |
| 3 | g.122284513C= | CA1397872521 | CASR | c.2328C= (p.Phe776=) c.2589C= (p.Phe863=) c.2559C= (p.Phe853=) c.2076C= (p.Phe692=) c.1971C= (p.Phe657=) | |
| 3 | g.122284513C>G | CA354160286 | CASR | c.2328C>G (p.Phe776Leu) c.2589C>G (p.Phe863Leu) c.2559C>G (p.Phe853Leu) c.2076C>G (p.Phe692Leu) c.1971C>G (p.Phe657Leu) | ClinVar dbSNP |
| 3 | g.122284513C>T | CA435425340 | CASR | c.2328C>T (p.Phe776=) c.2589C>T (p.Phe863=) c.2559C>T (p.Phe853=) c.2076C>T (p.Phe692=) c.1971C>T (p.Phe657=) | |
| 3 | g.122284514T>A | CA354160288 | CASR | c.2329T>A (p.Phe777Ile) c.2590T>A (p.Phe864Ile) c.2560T>A (p.Phe854Ile) c.2077T>A (p.Phe693Ile) c.1972T>A (p.Phe658Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284514T>C | CA82749042 | CASR | c.2329T>C (p.Phe777Leu) c.2590T>C (p.Phe864Leu) c.2560T>C (p.Phe854Leu) c.2077T>C (p.Phe693Leu) c.1972T>C (p.Phe658Leu) | dbSNP gnomAD v4 |
| 3 | g.122284514T>G | CA354160287 | CASR | c.2329T>G (p.Phe777Val) c.2590T>G (p.Phe864Val) c.2560T>G (p.Phe854Val) c.2077T>G (p.Phe693Val) c.1972T>G (p.Phe658Val) | gnomAD v4 |
| 3 | g.122284514T= | CA1397872530 | CASR | c.2329T= (p.Phe777=) c.2590T= (p.Phe864=) c.2560T= (p.Phe854=) c.2077T= (p.Phe693=) c.1972T= (p.Phe658=) | |
| 3 | g.122284515T>A | CA354160289 | CASR | c.2330T>A (p.Phe777Tyr) c.2591T>A (p.Phe864Tyr) c.2561T>A (p.Phe854Tyr) c.2078T>A (p.Phe693Tyr) c.1973T>A (p.Phe658Tyr) | |
| 3 | g.122284515T>C | CA354160290 | CASR | c.2330T>C (p.Phe777Ser) c.2591T>C (p.Phe864Ser) c.2561T>C (p.Phe854Ser) c.2078T>C (p.Phe693Ser) c.1973T>C (p.Phe658Ser) | |
| 3 | g.122284515T>G | CA354160291 | CASR | c.2330T>G (p.Phe777Cys) c.2591T>G (p.Phe864Cys) c.2561T>G (p.Phe854Cys) c.2078T>G (p.Phe693Cys) c.1973T>G (p.Phe658Cys) | |
| 3 | g.122284516C>A | CA354160292 | CASR | c.2331C>A (p.Phe777Leu) c.2592C>A (p.Phe864Leu) c.2562C>A (p.Phe854Leu) c.2079C>A (p.Phe693Leu) c.1974C>A (p.Phe658Leu) | |
| 3 | g.122284516C>G | CA354160293 | CASR | c.2331C>G (p.Phe777Leu) c.2592C>G (p.Phe864Leu) c.2562C>G (p.Phe854Leu) c.2079C>G (p.Phe693Leu) c.1974C>G (p.Phe658Leu) | |
| 3 | g.122284516C>T | CA435425341 | CASR | c.2331C>T (p.Phe777=) c.2592C>T (p.Phe864=) c.2562C>T (p.Phe854=) c.2079C>T (p.Phe693=) c.1974C>T (p.Phe658=) | |
| 3 | g.122284517A= | CA1397872536 | CASR | c.2332A= (p.Asn778=) c.2593A= (p.Asn865=) c.2563A= (p.Asn855=) c.2080A= (p.Asn694=) c.1975A= (p.Asn659=) | |
| 3 | g.122284517A>C | CA354160296 | CASR | c.2332A>C (p.Asn778His) c.2593A>C (p.Asn865His) c.2563A>C (p.Asn855His) c.2080A>C (p.Asn694His) c.1975A>C (p.Asn659His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284517A>G | CA354160295 | CASR | c.2332A>G (p.Asn778Asp) c.2593A>G (p.Asn865Asp) c.2563A>G (p.Asn855Asp) c.2080A>G (p.Asn694Asp) c.1975A>G (p.Asn659Asp) | |
| 3 | g.122284517A>T | CA354160294 | CASR | c.2332A>T (p.Asn778Tyr) c.2593A>T (p.Asn865Tyr) c.2563A>T (p.Asn855Tyr) c.2080A>T (p.Asn694Tyr) c.1975A>T (p.Asn659Tyr) | |
| 3 | g.122284518A= | CA1397872540 | CASR | c.2333A= (p.Asn778=) c.2594A= (p.Asn865=) c.2564A= (p.Asn855=) c.2081A= (p.Asn694=) c.1976A= (p.Asn659=) | |
| 3 | g.122284518A>C | CA354160297 | CASR | c.2333A>C (p.Asn778Thr) c.2594A>C (p.Asn865Thr) c.2564A>C (p.Asn855Thr) c.2081A>C (p.Asn694Thr) c.1976A>C (p.Asn659Thr) | |
| 3 | g.122284518A>G | CA354160298 | CASR | c.2333A>G (p.Asn778Ser) c.2594A>G (p.Asn865Ser) c.2564A>G (p.Asn855Ser) c.2081A>G (p.Asn694Ser) c.1976A>G (p.Asn659Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284518A>T | CA354160299 | CASR | c.2333A>T (p.Asn778Ile) c.2594A>T (p.Asn865Ile) c.2564A>T (p.Asn855Ile) c.2081A>T (p.Asn694Ile) c.1976A>T (p.Asn659Ile) | |
| 3 | g.122284519C>A | CA354160300 | CASR | c.2334C>A (p.Asn778Lys) c.2595C>A (p.Asn865Lys) c.2565C>A (p.Asn855Lys) c.2082C>A (p.Asn694Lys) c.1977C>A (p.Asn659Lys) | |
| 3 | g.122284519C= | CA1397872545 | CASR | c.2334C= (p.Asn778=) c.2595C= (p.Asn865=) c.2565C= (p.Asn855=) c.2082C= (p.Asn694=) c.1977C= (p.Asn659=) | |
| 3 | g.122284519C>G | CA354160301 | CASR | c.2334C>G (p.Asn778Lys) c.2595C>G (p.Asn865Lys) c.2565C>G (p.Asn855Lys) c.2082C>G (p.Asn694Lys) c.1977C>G (p.Asn659Lys) | ClinVar |
| 3 | g.122284519C>T | CA2569833 | CASR | c.2334C>T (p.Asn778=) c.2595C>T (p.Asn865=) c.2565C>T (p.Asn855=) c.2082C>T (p.Asn694=) c.1977C>T (p.Asn659=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284520A>C | CA354160302 | CASR | c.2335A>C (p.Lys779Gln) c.2596A>C (p.Lys866Gln) c.2566A>C (p.Lys856Gln) c.2083A>C (p.Lys695Gln) c.1978A>C (p.Lys660Gln) | |
| 3 | g.122284520A>G | CA354160304 | CASR | c.2335A>G (p.Lys779Glu) c.2596A>G (p.Lys866Glu) c.2566A>G (p.Lys856Glu) c.2083A>G (p.Lys695Glu) c.1978A>G (p.Lys660Glu) | |
| 3 | g.122284520A>T | CA354160303 | CASR | c.2335A>T (p.Lys779Ter) c.2596A>T (p.Lys866Ter) c.2566A>T (p.Lys856Ter) c.2083A>T (p.Lys695Ter) c.1978A>T (p.Lys660Ter) | |
| 3 | g.122284521_122284527del | CA2586972873 | CASR | c.2336_2342del (p.Lys779ThrfsTer?) c.2597_2603del (p.Lys866ThrfsTer?) c.2567_2573del (p.Lys856ThrfsTer?) c.2084_2090del (p.Lys695ThrfsTer?) c.1979_1985del (p.Lys660ThrfsTer?) | |
| 3 | g.122284521A>C | CA354160305 | CASR | c.2336A>C (p.Lys779Thr) c.2597A>C (p.Lys866Thr) c.2567A>C (p.Lys856Thr) c.2084A>C (p.Lys695Thr) c.1979A>C (p.Lys660Thr) | |
| 3 | g.122284521A>G | CA354160306 | CASR | c.2336A>G (p.Lys779Arg) c.2597A>G (p.Lys866Arg) c.2567A>G (p.Lys856Arg) c.2084A>G (p.Lys695Arg) c.1979A>G (p.Lys660Arg) | |
| 3 | g.122284521A>T | CA354160307 | CASR | c.2336A>T (p.Lys779Met) c.2597A>T (p.Lys866Met) c.2567A>T (p.Lys856Met) c.2084A>T (p.Lys695Met) c.1979A>T (p.Lys660Met) | |
| 3 | g.122284522G>A | CA82749062 | CASR | c.2337G>A (p.Lys779=) c.2598G>A (p.Lys866=) c.2568G>A (p.Lys856=) c.2085G>A (p.Lys695=) c.1980G>A (p.Lys660=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284522G>C | CA354160308 | CASR | c.2337G>C (p.Lys779Asn) c.2598G>C (p.Lys866Asn) c.2568G>C (p.Lys856Asn) c.2085G>C (p.Lys695Asn) c.1980G>C (p.Lys660Asn) | |
| 3 | g.122284522G= | CA1397872549 | CASR | c.2337G= (p.Lys779=) c.2598G= (p.Lys866=) c.2568G= (p.Lys856=) c.2085G= (p.Lys695=) c.1980G= (p.Lys660=) | |
| 3 | g.122284522G>T | CA354160309 | CASR | c.2337G>T (p.Lys779Asn) c.2598G>T (p.Lys866Asn) c.2568G>T (p.Lys856Asn) c.2085G>T (p.Lys695Asn) c.1980G>T (p.Lys660Asn) | |
| 3 | g.122284523A>C | CA354160310 | CASR | c.2338A>C (p.Ile780Leu) c.2599A>C (p.Ile867Leu) c.2569A>C (p.Ile857Leu) c.2086A>C (p.Ile696Leu) c.1981A>C (p.Ile661Leu) | |
| 3 | g.122284523A>G | CA354160311 | CASR | c.2338A>G (p.Ile780Val) c.2599A>G (p.Ile867Val) c.2569A>G (p.Ile857Val) c.2086A>G (p.Ile696Val) c.1981A>G (p.Ile661Val) | |
| 3 | g.122284523A>T | CA354160312 | CASR | c.2338A>T (p.Ile780Phe) c.2599A>T (p.Ile867Phe) c.2569A>T (p.Ile857Phe) c.2086A>T (p.Ile696Phe) c.1981A>T (p.Ile661Phe) | ClinVar |
| 3 | g.122284524T>A | CA354160313 | CASR | c.2339T>A (p.Ile780Asn) c.2600T>A (p.Ile867Asn) c.2570T>A (p.Ile857Asn) c.2087T>A (p.Ile696Asn) c.1982T>A (p.Ile661Asn) | ClinVar dbSNP |
| 3 | g.122284524T>C | CA2569834 | CASR | c.2339T>C (p.Ile780Thr) c.2600T>C (p.Ile867Thr) c.2570T>C (p.Ile857Thr) c.2087T>C (p.Ile696Thr) c.1982T>C (p.Ile661Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284524T>G | CA354160314 | CASR | c.2339T>G (p.Ile780Ser) c.2600T>G (p.Ile867Ser) c.2570T>G (p.Ile857Ser) c.2087T>G (p.Ile696Ser) c.1982T>G (p.Ile661Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284524T= | CA1397872553 | CASR | c.2339T= (p.Ile780=) c.2600T= (p.Ile867=) c.2570T= (p.Ile857=) c.2087T= (p.Ile696=) c.1982T= (p.Ile661=) | |
| 3 | g.122284525C>A | CA435425343 | CASR | c.2340C>A (p.Ile780=) c.2601C>A (p.Ile867=) c.2571C>A (p.Ile857=) c.2088C>A (p.Ile696=) c.1983C>A (p.Ile661=) | |
| 3 | g.122284525C= | CA1397872562 | CASR | c.2340C= (p.Ile780=) c.2601C= (p.Ile867=) c.2571C= (p.Ile857=) c.2088C= (p.Ile696=) c.1983C= (p.Ile661=) | |
| 3 | g.122284525C>G | CA354160315 | CASR | c.2340C>G (p.Ile780Met) c.2601C>G (p.Ile867Met) c.2571C>G (p.Ile857Met) c.2088C>G (p.Ile696Met) c.1983C>G (p.Ile661Met) | |
| 3 | g.122284525C>T | CA435425342 | CASR | c.2340C>T (p.Ile780=) c.2601C>T (p.Ile867=) c.2571C>T (p.Ile857=) c.2088C>T (p.Ile696=) c.1983C>T (p.Ile661=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284526T>A | CA354160317 | CASR | c.2341T>A (p.Tyr781Asn) c.2602T>A (p.Tyr868Asn) c.2572T>A (p.Tyr858Asn) c.2089T>A (p.Tyr697Asn) c.1984T>A (p.Tyr662Asn) | |
| 3 | g.122284526T>C | CA354160316 | CASR | c.2341T>C (p.Tyr781His) c.2602T>C (p.Tyr868His) c.2572T>C (p.Tyr858His) c.2089T>C (p.Tyr697His) c.1984T>C (p.Tyr662His) | |
| 3 | g.122284526T>G | CA2569835 | CASR | c.2341T>G (p.Tyr781Asp) c.2602T>G (p.Tyr868Asp) c.2572T>G (p.Tyr858Asp) c.2089T>G (p.Tyr697Asp) c.1984T>G (p.Tyr662Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284526T= | CA1397872565 | CASR | c.2341T= (p.Tyr781=) c.2602T= (p.Tyr868=) c.2572T= (p.Tyr858=) c.2089T= (p.Tyr697=) c.1984T= (p.Tyr662=) | |
| 3 | g.122284527A>C | CA354160318 | CASR | c.2342A>C (p.Tyr781Ser) c.2603A>C (p.Tyr868Ser) c.2573A>C (p.Tyr858Ser) c.2090A>C (p.Tyr697Ser) c.1985A>C (p.Tyr662Ser) | |
| 3 | g.122284527A>G | CA354160319 | CASR | c.2342A>G (p.Tyr781Cys) c.2603A>G (p.Tyr868Cys) c.2573A>G (p.Tyr858Cys) c.2090A>G (p.Tyr697Cys) c.1985A>G (p.Tyr662Cys) | |
| 3 | g.122284527A>T | CA354160320 | CASR | c.2342A>T (p.Tyr781Phe) c.2603A>T (p.Tyr868Phe) c.2573A>T (p.Tyr858Phe) c.2090A>T (p.Tyr697Phe) c.1985A>T (p.Tyr662Phe) | |
| 3 | g.122284528C>A | CA354160321 | CASR | c.2343C>A (p.Tyr781Ter) c.2604C>A (p.Tyr868Ter) c.2574C>A (p.Tyr858Ter) c.2091C>A (p.Tyr697Ter) c.1986C>A (p.Tyr662Ter) | |
| 3 | g.122284528C>G | CA354160322 | CASR | c.2343C>G (p.Tyr781Ter) c.2604C>G (p.Tyr868Ter) c.2574C>G (p.Tyr858Ter) c.2091C>G (p.Tyr697Ter) c.1986C>G (p.Tyr662Ter) | gnomAD v4 |
| 3 | g.122284528C>T | CA435425344 | CASR | c.2343C>T (p.Tyr781=) c.2604C>T (p.Tyr868=) c.2574C>T (p.Tyr858=) c.2091C>T (p.Tyr697=) c.1986C>T (p.Tyr662=) | |
| 3 | g.122284529A= | CA1397872569 | CASR | c.2344A= (p.Ile782=) c.2605A= (p.Ile869=) c.2575A= (p.Ile859=) c.2092A= (p.Ile698=) c.1987A= (p.Ile663=) | |
| 3 | g.122284529A>C | CA354160323 | CASR | c.2344A>C (p.Ile782Leu) c.2605A>C (p.Ile869Leu) c.2575A>C (p.Ile859Leu) c.2092A>C (p.Ile698Leu) c.1987A>C (p.Ile663Leu) | ClinVar dbSNP |
| 3 | g.122284529A>G | CA354160325 | CASR | c.2344A>G (p.Ile782Val) c.2605A>G (p.Ile869Val) c.2575A>G (p.Ile859Val) c.2092A>G (p.Ile698Val) c.1987A>G (p.Ile663Val) | ClinVar |
| 3 | g.122284529A>T | CA354160324 | CASR | c.2344A>T (p.Ile782Phe) c.2605A>T (p.Ile869Phe) c.2575A>T (p.Ile859Phe) c.2092A>T (p.Ile698Phe) c.1987A>T (p.Ile663Phe) | |
| 3 | g.122284530T>A | CA354160326 | CASR | c.2345T>A (p.Ile782Asn) c.2606T>A (p.Ile869Asn) c.2576T>A (p.Ile859Asn) c.2093T>A (p.Ile698Asn) c.1988T>A (p.Ile663Asn) | ClinVar dbSNP |
| 3 | g.122284530T>C | CA354160327 | CASR | c.2345T>C (p.Ile782Thr) c.2606T>C (p.Ile869Thr) c.2576T>C (p.Ile859Thr) c.2093T>C (p.Ile698Thr) c.1988T>C (p.Ile663Thr) | ClinVar |
| 3 | g.122284530T>G | CA354160328 | CASR | c.2345T>G (p.Ile782Ser) c.2606T>G (p.Ile869Ser) c.2576T>G (p.Ile859Ser) c.2093T>G (p.Ile698Ser) c.1988T>G (p.Ile663Ser) | |
| 3 | g.122284531C>A | CA435425345 | CASR | c.2346C>A (p.Ile782=) c.2607C>A (p.Ile869=) c.2577C>A (p.Ile859=) c.2094C>A (p.Ile698=) c.1989C>A (p.Ile663=) | |
| 3 | g.122284531C>G | CA354160329 | CASR | c.2346C>G (p.Ile782Met) c.2607C>G (p.Ile869Met) c.2577C>G (p.Ile859Met) c.2094C>G (p.Ile698Met) c.1989C>G (p.Ile663Met) | |
| 3 | g.122284531C>T | CA435425346 | CASR | c.2346C>T (p.Ile782=) c.2607C>T (p.Ile869=) c.2577C>T (p.Ile859=) c.2094C>T (p.Ile698=) c.1989C>T (p.Ile663=) | |
| 3 | g.122284532A>C | CA354160332 | CASR | c.2347A>C (p.Ile783Leu) c.2608A>C (p.Ile870Leu) c.2578A>C (p.Ile860Leu) c.2095A>C (p.Ile699Leu) c.1990A>C (p.Ile664Leu) | |
| 3 | g.122284532A>G | CA354160330 | CASR | c.2347A>G (p.Ile783Val) c.2608A>G (p.Ile870Val) c.2578A>G (p.Ile860Val) c.2095A>G (p.Ile699Val) c.1990A>G (p.Ile664Val) | |
| 3 | g.122284532A>T | CA354160331 | CASR | c.2347A>T (p.Ile783Phe) c.2608A>T (p.Ile870Phe) c.2578A>T (p.Ile860Phe) c.2095A>T (p.Ile699Phe) c.1990A>T (p.Ile664Phe) | |
| 3 | g.122284533T>A | CA354160333 | CASR | c.2348T>A (p.Ile783Asn) c.2609T>A (p.Ile870Asn) c.2579T>A (p.Ile860Asn) c.2096T>A (p.Ile699Asn) c.1991T>A (p.Ile664Asn) | |
| 3 | g.122284533T>C | CA354160334 | CASR | c.2348T>C (p.Ile783Thr) c.2609T>C (p.Ile870Thr) c.2579T>C (p.Ile860Thr) c.2096T>C (p.Ile699Thr) c.1991T>C (p.Ile664Thr) | |
| 3 | g.122284533T>G | CA354160335 | CASR | c.2348T>G (p.Ile783Ser) c.2609T>G (p.Ile870Ser) c.2579T>G (p.Ile860Ser) c.2096T>G (p.Ile699Ser) c.1991T>G (p.Ile664Ser) | |
| 3 | g.122284534T>A | CA435425347 | CASR | c.2349T>A (p.Ile783=) c.2610T>A (p.Ile870=) c.2580T>A (p.Ile860=) c.2097T>A (p.Ile699=) c.1992T>A (p.Ile664=) | |
| 3 | g.122284534T>C | CA435425348 | CASR | c.2349T>C (p.Ile783=) c.2610T>C (p.Ile870=) c.2580T>C (p.Ile860=) c.2097T>C (p.Ile699=) c.1992T>C (p.Ile664=) | |
| 3 | g.122284534T>G | CA354160336 | CASR | c.2349T>G (p.Ile783Met) c.2610T>G (p.Ile870Met) c.2580T>G (p.Ile860Met) c.2097T>G (p.Ile699Met) c.1992T>G (p.Ile664Met) | |
| 3 | g.122284535C>A | CA354160337 | CASR | c.2350C>A (p.Leu784Ile) c.2611C>A (p.Leu871Ile) c.2581C>A (p.Leu861Ile) c.2098C>A (p.Leu700Ile) c.1993C>A (p.Leu665Ile) | |
| 3 | g.122284535C= | CA1397872575 | CASR | c.2350C= (p.Leu784=) c.2611C= (p.Leu871=) c.2581C= (p.Leu861=) c.2098C= (p.Leu700=) c.1993C= (p.Leu665=) | |
| 3 | g.122284535C>G | CA354160338 | CASR | c.2350C>G (p.Leu784Val) c.2611C>G (p.Leu871Val) c.2581C>G (p.Leu861Val) c.2098C>G (p.Leu700Val) c.1993C>G (p.Leu665Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284535C>T | CA354160339 | CASR | c.2350C>T (p.Leu784Phe) c.2611C>T (p.Leu871Phe) c.2581C>T (p.Leu861Phe) c.2098C>T (p.Leu700Phe) c.1993C>T (p.Leu665Phe) | |
| 3 | g.122284536T>A | CA354160340 | CASR | c.2351T>A (p.Leu784His) c.2612T>A (p.Leu871His) c.2582T>A (p.Leu861His) c.2099T>A (p.Leu700His) c.1994T>A (p.Leu665His) | ClinVar |
| 3 | g.122284536T>C | CA354160341 | CASR | c.2351T>C (p.Leu784Pro) c.2612T>C (p.Leu871Pro) c.2582T>C (p.Leu861Pro) c.2099T>C (p.Leu700Pro) c.1994T>C (p.Leu665Pro) | ClinVar |
| 3 | g.122284536T>G | CA354160342 | CASR | c.2351T>G (p.Leu784Arg) c.2612T>G (p.Leu871Arg) c.2582T>G (p.Leu861Arg) c.2099T>G (p.Leu700Arg) c.1994T>G (p.Leu665Arg) | |
| 3 | g.122284537C>A | CA435425349 | CASR | c.2352C>A (p.Leu784=) c.2613C>A (p.Leu871=) c.2583C>A (p.Leu861=) c.2100C>A (p.Leu700=) c.1995C>A (p.Leu665=) | |
| 3 | g.122284537C>G | CA435425350 | CASR | c.2352C>G (p.Leu784=) c.2613C>G (p.Leu871=) c.2583C>G (p.Leu861=) c.2100C>G (p.Leu700=) c.1995C>G (p.Leu665=) | |
| 3 | g.122284537C>T | CA435425351 | CASR | c.2352C>T (p.Leu784=) c.2613C>T (p.Leu871=) c.2583C>T (p.Leu861=) c.2100C>T (p.Leu700=) c.1995C>T (p.Leu665=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284538T>A | CA354160343 | CASR | c.2353T>A (p.Phe785Ile) c.2614T>A (p.Phe872Ile) c.2584T>A (p.Phe862Ile) c.2101T>A (p.Phe701Ile) c.1996T>A (p.Phe666Ile) | |
| 3 | g.122284538T>C | CA354160344 | CASR | c.2353T>C (p.Phe785Leu) c.2614T>C (p.Phe872Leu) c.2584T>C (p.Phe862Leu) c.2101T>C (p.Phe701Leu) c.1996T>C (p.Phe666Leu) | |
| 3 | g.122284538T>G | CA354160345 | CASR | c.2353T>G (p.Phe785Val) c.2614T>G (p.Phe872Val) c.2584T>G (p.Phe862Val) c.2101T>G (p.Phe701Val) c.1996T>G (p.Phe666Val) | |
| 3 | g.122284539T>A | CA354160347 | CASR | c.2354T>A (p.Phe785Tyr) c.2615T>A (p.Phe872Tyr) c.2585T>A (p.Phe862Tyr) c.2102T>A (p.Phe701Tyr) c.1997T>A (p.Phe666Tyr) | |
| 3 | g.122284539T>C | CA2569836 | CASR | c.2354T>C (p.Phe785Ser) c.2615T>C (p.Phe872Ser) c.2585T>C (p.Phe862Ser) c.2102T>C (p.Phe701Ser) c.1997T>C (p.Phe666Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284539T>G | CA354160346 | CASR | c.2354T>G (p.Phe785Cys) c.2615T>G (p.Phe872Cys) c.2585T>G (p.Phe862Cys) c.2102T>G (p.Phe701Cys) c.1997T>G (p.Phe666Cys) | |
| 3 | g.122284539T= | CA1397872582 | CASR | c.2354T= (p.Phe785=) c.2615T= (p.Phe872=) c.2585T= (p.Phe862=) c.2102T= (p.Phe701=) c.1997T= (p.Phe666=) | |
| 3 | g.122284540C>A | CA354160348 | CASR | c.2355C>A (p.Phe785Leu) c.2616C>A (p.Phe872Leu) c.2586C>A (p.Phe862Leu) c.2103C>A (p.Phe701Leu) c.1998C>A (p.Phe666Leu) | |
| 3 | g.122284540C>G | CA354160349 | CASR | c.2355C>G (p.Phe785Leu) c.2616C>G (p.Phe872Leu) c.2586C>G (p.Phe862Leu) c.2103C>G (p.Phe701Leu) c.1998C>G (p.Phe666Leu) | |
| 3 | g.122284540C>T | CA435425352 | CASR | c.2355C>T (p.Phe785=) c.2616C>T (p.Phe872=) c.2586C>T (p.Phe862=) c.2103C>T (p.Phe701=) c.1998C>T (p.Phe666=) | dbSNP |
| 3 | g.122284541A>C | CA354160350 | CASR | c.2356A>C (p.Lys786Gln) c.2617A>C (p.Lys873Gln) c.2587A>C (p.Lys863Gln) c.2104A>C (p.Lys702Gln) c.1999A>C (p.Lys667Gln) | |
| 3 | g.122284541A>G | CA354160351 | CASR | c.2356A>G (p.Lys786Glu) c.2617A>G (p.Lys873Glu) c.2587A>G (p.Lys863Glu) c.2104A>G (p.Lys702Glu) c.1999A>G (p.Lys667Glu) | |
| 3 | g.122284541A>T | CA354160352 | CASR | c.2356A>T (p.Lys786Ter) c.2617A>T (p.Lys873Ter) c.2587A>T (p.Lys863Ter) c.2104A>T (p.Lys702Ter) c.1999A>T (p.Lys667Ter) | |
| 3 | g.122284542A>C | CA354160353 | CASR | c.2357A>C (p.Lys786Thr) c.2618A>C (p.Lys873Thr) c.2588A>C (p.Lys863Thr) c.2105A>C (p.Lys702Thr) c.2000A>C (p.Lys667Thr) | |
| 3 | g.122284542A>G | CA354160354 | CASR | c.2357A>G (p.Lys786Arg) c.2618A>G (p.Lys873Arg) c.2588A>G (p.Lys863Arg) c.2105A>G (p.Lys702Arg) c.2000A>G (p.Lys667Arg) | |
| 3 | g.122284542A>T | CA354160355 | CASR | c.2357A>T (p.Lys786Met) c.2618A>T (p.Lys873Met) c.2588A>T (p.Lys863Met) c.2105A>T (p.Lys702Met) c.2000A>T (p.Lys667Met) | |
| 3 | g.122284543G>A | CA435425353 | CASR | c.2358G>A (p.Lys786=) c.2619G>A (p.Lys873=) c.2589G>A (p.Lys863=) c.2106G>A (p.Lys702=) c.2001G>A (p.Lys667=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284543G>C | CA354160356 | CASR | c.2358G>C (p.Lys786Asn) c.2619G>C (p.Lys873Asn) c.2589G>C (p.Lys863Asn) c.2106G>C (p.Lys702Asn) c.2001G>C (p.Lys667Asn) | |
| 3 | g.122284543G= | CA1397872584 | CASR | c.2358G= (p.Lys786=) c.2619G= (p.Lys873=) c.2589G= (p.Lys863=) c.2106G= (p.Lys702=) c.2001G= (p.Lys667=) | |
| 3 | g.122284543G>T | CA354160357 | CASR | c.2358G>T (p.Lys786Asn) c.2619G>T (p.Lys873Asn) c.2589G>T (p.Lys863Asn) c.2106G>T (p.Lys702Asn) c.2001G>T (p.Lys667Asn) | |
| 3 | g.122284544C>A | CA354160358 | CASR | c.2359C>A (p.Pro787Thr) c.2620C>A (p.Pro874Thr) c.2590C>A (p.Pro864Thr) c.2107C>A (p.Pro703Thr) c.2002C>A (p.Pro668Thr) | |
| 3 | g.122284544C>G | CA354160359 | CASR | c.2359C>G (p.Pro787Ala) c.2620C>G (p.Pro874Ala) c.2590C>G (p.Pro864Ala) c.2107C>G (p.Pro703Ala) c.2002C>G (p.Pro668Ala) | |
| 3 | g.122284544C>T | CA354160360 | CASR | c.2359C>T (p.Pro787Ser) c.2620C>T (p.Pro874Ser) c.2590C>T (p.Pro864Ser) c.2107C>T (p.Pro703Ser) c.2002C>T (p.Pro668Ser) | COSMIC |
| 3 | g.122284545C>A | CA354160363 | CASR | c.2360C>A (p.Pro787Gln) c.2621C>A (p.Pro874Gln) c.2591C>A (p.Pro864Gln) c.2108C>A (p.Pro703Gln) c.2003C>A (p.Pro668Gln) | |
| 3 | g.122284545C>G | CA354160361 | CASR | c.2360C>G (p.Pro787Arg) c.2621C>G (p.Pro874Arg) c.2591C>G (p.Pro864Arg) c.2108C>G (p.Pro703Arg) c.2003C>G (p.Pro668Arg) | |
| 3 | g.122284545C>T | CA354160362 | CASR | c.2360C>T (p.Pro787Leu) c.2621C>T (p.Pro874Leu) c.2591C>T (p.Pro864Leu) c.2108C>T (p.Pro703Leu) c.2003C>T (p.Pro668Leu) | COSMIC |
| 3 | g.122284546A>C | CA435425354 | CASR | c.2361A>C (p.Pro787=) c.2622A>C (p.Pro874=) c.2592A>C (p.Pro864=) c.2109A>C (p.Pro703=) c.2004A>C (p.Pro668=) | |
| 3 | g.122284546A>G | CA435425356 | CASR | c.2361A>G (p.Pro787=) c.2622A>G (p.Pro874=) c.2592A>G (p.Pro864=) c.2109A>G (p.Pro703=) c.2004A>G (p.Pro668=) | ClinVar |
| 3 | g.122284546A>T | CA435425355 | CASR | c.2361A>T (p.Pro787=) c.2622A>T (p.Pro874=) c.2592A>T (p.Pro864=) c.2109A>T (p.Pro703=) c.2004A>T (p.Pro668=) | |
| 3 | g.122284547T>A | CA354160364 | CASR | c.2362T>A (p.Ser788Thr) c.2623T>A (p.Ser875Thr) c.2593T>A (p.Ser865Thr) c.2110T>A (p.Ser704Thr) c.2005T>A (p.Ser669Thr) | |
| 3 | g.122284547T>C | CA354160365 | CASR | c.2362T>C (p.Ser788Pro) c.2623T>C (p.Ser875Pro) c.2593T>C (p.Ser865Pro) c.2110T>C (p.Ser704Pro) c.2005T>C (p.Ser669Pro) | |
| 3 | g.122284547T>G | CA354160366 | CASR | c.2362T>G (p.Ser788Ala) c.2623T>G (p.Ser875Ala) c.2593T>G (p.Ser865Ala) c.2110T>G (p.Ser704Ala) c.2005T>G (p.Ser669Ala) | |
| 3 | g.122284548C>A | CA354160367 | CASR | c.2363C>A (p.Ser788Tyr) c.2624C>A (p.Ser875Tyr) c.2594C>A (p.Ser865Tyr) c.2111C>A (p.Ser704Tyr) c.2006C>A (p.Ser669Tyr) | |
| 3 | g.122284548C= | CA1397872587 | CASR | c.2363C= (p.Ser788=) c.2624C= (p.Ser875=) c.2594C= (p.Ser865=) c.2111C= (p.Ser704=) c.2006C= (p.Ser669=) | |
| 3 | g.122284548C>G | CA354160368 | CASR | c.2363C>G (p.Ser788Cys) c.2624C>G (p.Ser875Cys) c.2594C>G (p.Ser865Cys) c.2111C>G (p.Ser704Cys) c.2006C>G (p.Ser669Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284548C>T | CA354160369 | CASR | c.2363C>T (p.Ser788Phe) c.2624C>T (p.Ser875Phe) c.2594C>T (p.Ser865Phe) c.2111C>T (p.Ser704Phe) c.2006C>T (p.Ser669Phe) | ClinVar dbSNP |
| 3 | g.122284550del | CA2586972874 | CASR | c.2365del (p.Arg789AlafsTer?) c.2626del (p.Arg876AlafsTer?) c.2596del (p.Arg866AlafsTer?) c.2113del (p.Arg705AlafsTer?) c.2008del (p.Arg670AlafsTer?) | |
| 3 | g.122284549C>A | CA435425357 | CASR | c.2364C>A (p.Ser788=) c.2625C>A (p.Ser875=) c.2595C>A (p.Ser865=) c.2112C>A (p.Ser704=) c.2007C>A (p.Ser669=) | |
| 3 | g.122284549C>G | CA435425358 | CASR | c.2364C>G (p.Ser788=) c.2625C>G (p.Ser875=) c.2595C>G (p.Ser865=) c.2112C>G (p.Ser704=) c.2007C>G (p.Ser669=) | |
| 3 | g.122284549C>T | CA435425359 | CASR | c.2364C>T (p.Ser788=) c.2625C>T (p.Ser875=) c.2595C>T (p.Ser865=) c.2112C>T (p.Ser704=) c.2007C>T (p.Ser669=) | |
| 3 | g.122284550C>A | CA354160370 | CASR | c.2365C>A (p.Arg789Ser) c.2626C>A (p.Arg876Ser) c.2596C>A (p.Arg866Ser) c.2113C>A (p.Arg705Ser) c.2008C>A (p.Arg670Ser) | |
| 3 | g.122284550C= | CA1397872590 | CASR | c.2365C= (p.Arg789=) c.2626C= (p.Arg876=) c.2596C= (p.Arg866=) c.2113C= (p.Arg705=) c.2008C= (p.Arg670=) | |
| 3 | g.122284550C>G | CA354160371 | CASR | c.2365C>G (p.Arg789Gly) c.2626C>G (p.Arg876Gly) c.2596C>G (p.Arg866Gly) c.2113C>G (p.Arg705Gly) c.2008C>G (p.Arg670Gly) | ClinVar |
| 3 | g.122284550C>T | CA354160372 | CASR | c.2365C>T (p.Arg789Cys) c.2626C>T (p.Arg876Cys) c.2596C>T (p.Arg866Cys) c.2113C>T (p.Arg705Cys) c.2008C>T (p.Arg670Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284551G>A | CA2569837 | CASR | c.2366G>A (p.Arg789His) c.2627G>A (p.Arg876His) c.2597G>A (p.Arg866His) c.2114G>A (p.Arg705His) c.2009G>A (p.Arg670His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284551G>C | CA354160373 | CASR | c.2366G>C (p.Arg789Pro) c.2627G>C (p.Arg876Pro) c.2597G>C (p.Arg866Pro) c.2114G>C (p.Arg705Pro) c.2009G>C (p.Arg670Pro) | ClinVar dbSNP |
| 3 | g.122284551G= | CA1397872600 | CASR | c.2366G= (p.Arg789=) c.2627G= (p.Arg876=) c.2597G= (p.Arg866=) c.2114G= (p.Arg705=) c.2009G= (p.Arg670=) | |
| 3 | g.122284551G>T | CA216128 | CASR | c.2366G>T (p.Arg789Leu) c.2627G>T (p.Arg876Leu) c.2597G>T (p.Arg866Leu) c.2114G>T (p.Arg705Leu) c.2009G>T (p.Arg670Leu) | ClinVar dbSNP |
| 3 | g.122284551_122284552delinsGC | CA1397872608 | CASR | c.2366_2367delinsGC (p.Arg789=) c.2627_2628delinsGC (p.Arg876=) c.2597_2598delinsGC (p.Arg866=) c.2114_2115delinsGC (p.Arg705=) c.2009_2010delinsGC (p.Arg670=) | |
| 3 | g.122284551_122284552delinsTT | CA658796355 | CASR | c.2366_2367delinsTT (p.Arg789Leu) c.2627_2628delinsTT (p.Arg876Leu) c.2597_2598delinsTT (p.Arg866Leu) c.2114_2115delinsTT (p.Arg705Leu) c.2009_2010delinsTT (p.Arg670Leu) | ClinVar dbSNP |
| 3 | g.122284552C>A | CA435425360 | CASR | c.2367C>A (p.Arg789=) c.2628C>A (p.Arg876=) c.2598C>A (p.Arg866=) c.2115C>A (p.Arg705=) c.2010C>A (p.Arg670=) | |
| 3 | g.122284552C>G | CA435425361 | CASR | c.2367C>G (p.Arg789=) c.2628C>G (p.Arg876=) c.2598C>G (p.Arg866=) c.2115C>G (p.Arg705=) c.2010C>G (p.Arg670=) | gnomAD v4 |
| 3 | g.122284552C>T | CA435425362 | CASR | c.2367C>T (p.Arg789=) c.2628C>T (p.Arg876=) c.2598C>T (p.Arg866=) c.2115C>T (p.Arg705=) c.2010C>T (p.Arg670=) | ClinVar dbSNP |
| 3 | g.122284553A>C | CA354160374 | CASR | c.2368A>C (p.Asn790His) c.2629A>C (p.Asn877His) c.2599A>C (p.Asn867His) c.2116A>C (p.Asn706His) c.2011A>C (p.Asn671His) | |
| 3 | g.122284553A>G | CA354160376 | CASR | c.2368A>G (p.Asn790Asp) c.2629A>G (p.Asn877Asp) c.2599A>G (p.Asn867Asp) c.2116A>G (p.Asn706Asp) c.2011A>G (p.Asn671Asp) | |
| 3 | g.122284553A>T | CA354160375 | CASR | c.2368A>T (p.Asn790Tyr) c.2629A>T (p.Asn877Tyr) c.2599A>T (p.Asn867Tyr) c.2116A>T (p.Asn706Tyr) c.2011A>T (p.Asn671Tyr) | |
| 3 | g.122284554A>C | CA354160377 | CASR | c.2369A>C (p.Asn790Thr) c.2630A>C (p.Asn877Thr) c.2600A>C (p.Asn867Thr) c.2117A>C (p.Asn706Thr) c.2012A>C (p.Asn671Thr) | |
| 3 | g.122284554A>G | CA354160379 | CASR | c.2369A>G (p.Asn790Ser) c.2630A>G (p.Asn877Ser) c.2600A>G (p.Asn867Ser) c.2117A>G (p.Asn706Ser) c.2012A>G (p.Asn671Ser) | |
| 3 | g.122284554A>T | CA354160378 | CASR | c.2369A>T (p.Asn790Ile) c.2630A>T (p.Asn877Ile) c.2600A>T (p.Asn867Ile) c.2117A>T (p.Asn706Ile) c.2012A>T (p.Asn671Ile) | |
| 3 | g.122284555_122284556insCAAACACACCCAACAC | CA2758178966 | CASR | c.2370_2371insCAAACACACCCAACAC (p.Thr791GlnfsTer?) c.2631_2632insCAAACACACCCAACAC (p.Thr878GlnfsTer?) c.2601_2602insCAAACACACCCAACAC (p.Thr868GlnfsTer?) c.2118_2119insCAAACACACCCAACAC (p.Thr707GlnfsTer?) c.2013_2014insCAAACACACCCAACAC (p.Thr672GlnfsTer?) | |
| 3 | g.122284555C>A | CA354160380 | CASR | c.2370C>A (p.Asn790Lys) c.2631C>A (p.Asn877Lys) c.2601C>A (p.Asn867Lys) c.2118C>A (p.Asn706Lys) c.2013C>A (p.Asn671Lys) | |
| 3 | g.122284555C>G | CA354160381 | CASR | c.2370C>G (p.Asn790Lys) c.2631C>G (p.Asn877Lys) c.2601C>G (p.Asn867Lys) c.2118C>G (p.Asn706Lys) c.2013C>G (p.Asn671Lys) | |
| 3 | g.122284555C>T | CA435425363 | CASR | c.2370C>T (p.Asn790=) c.2631C>T (p.Asn877=) c.2601C>T (p.Asn867=) c.2118C>T (p.Asn706=) c.2013C>T (p.Asn671=) | |
| 3 | g.122284556del | CA2667224702 | CASR | c.2371del (p.Thr791ProfsTer?) c.2632del (p.Thr878ProfsTer?) c.2602del (p.Thr868ProfsTer?) c.2119del (p.Thr707ProfsTer?) c.2014del (p.Thr672ProfsTer?) | gnomAD v4 |
| 3 | g.122284556A>C | CA354160382 | CASR | c.2371A>C (p.Thr791Pro) c.2632A>C (p.Thr878Pro) c.2602A>C (p.Thr868Pro) c.2119A>C (p.Thr707Pro) c.2014A>C (p.Thr672Pro) | |
| 3 | g.122284556A>G | CA354160383 | CASR | c.2371A>G (p.Thr791Ala) c.2632A>G (p.Thr878Ala) c.2602A>G (p.Thr868Ala) c.2119A>G (p.Thr707Ala) c.2014A>G (p.Thr672Ala) | gnomAD v4 |
| 3 | g.122284556A>T | CA354160384 | CASR | c.2371A>T (p.Thr791Ser) c.2632A>T (p.Thr878Ser) c.2602A>T (p.Thr868Ser) c.2119A>T (p.Thr707Ser) c.2014A>T (p.Thr672Ser) | |
| 3 | g.122284557C>A | CA354160385 | CASR | c.2372C>A (p.Thr791Asn) c.2633C>A (p.Thr878Asn) c.2603C>A (p.Thr868Asn) c.2120C>A (p.Thr707Asn) c.2015C>A (p.Thr672Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284557C>G | CA354160386 | CASR | c.2372C>G (p.Thr791Ser) c.2633C>G (p.Thr878Ser) c.2603C>G (p.Thr868Ser) c.2120C>G (p.Thr707Ser) c.2015C>G (p.Thr672Ser) | |
| 3 | g.122284557C>T | CA354160387 | CASR | c.2372C>T (p.Thr791Ile) c.2633C>T (p.Thr878Ile) c.2603C>T (p.Thr868Ile) c.2120C>T (p.Thr707Ile) c.2015C>T (p.Thr672Ile) | |
| 3 | g.122284558C>A | CA435425364 | CASR | c.2373C>A (p.Thr791=) c.2634C>A (p.Thr878=) c.2604C>A (p.Thr868=) c.2121C>A (p.Thr707=) c.2016C>A (p.Thr672=) | |
| 3 | g.122284558C= | CA1397872615 | CASR | c.2373C= (p.Thr791=) c.2634C= (p.Thr878=) c.2604C= (p.Thr868=) c.2121C= (p.Thr707=) c.2016C= (p.Thr672=) | |
| 3 | g.122284558C>G | CA435425365 | CASR | c.2373C>G (p.Thr791=) c.2634C>G (p.Thr878=) c.2604C>G (p.Thr868=) c.2121C>G (p.Thr707=) c.2016C>G (p.Thr672=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284558C>T | CA82749095 | CASR | c.2373C>T (p.Thr791=) c.2634C>T (p.Thr878=) c.2604C>T (p.Thr868=) c.2121C>T (p.Thr707=) c.2016C>T (p.Thr672=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284559A>C | CA354160388 | CASR | c.2374A>C (p.Ile792Leu) c.2635A>C (p.Ile879Leu) c.2605A>C (p.Ile869Leu) c.2122A>C (p.Ile708Leu) c.2017A>C (p.Ile673Leu) | |
| 3 | g.122284559A>G | CA354160389 | CASR | c.2374A>G (p.Ile792Val) c.2635A>G (p.Ile879Val) c.2605A>G (p.Ile869Val) c.2122A>G (p.Ile708Val) c.2017A>G (p.Ile673Val) | gnomAD v4 |
| 3 | g.122284559A>T | CA354160390 | CASR | c.2374A>T (p.Ile792Phe) c.2635A>T (p.Ile879Phe) c.2605A>T (p.Ile869Phe) c.2122A>T (p.Ile708Phe) c.2017A>T (p.Ile673Phe) | |
| 3 | g.122284560T>A | CA354160393 | CASR | c.2375T>A (p.Ile792Asn) c.2636T>A (p.Ile879Asn) c.2606T>A (p.Ile869Asn) c.2123T>A (p.Ile708Asn) c.2018T>A (p.Ile673Asn) | |
| 3 | g.122284560T>C | CA354160391 | CASR | c.2375T>C (p.Ile792Thr) c.2636T>C (p.Ile879Thr) c.2606T>C (p.Ile869Thr) c.2123T>C (p.Ile708Thr) c.2018T>C (p.Ile673Thr) | |
| 3 | g.122284560T>G | CA354160392 | CASR | c.2375T>G (p.Ile792Ser) c.2636T>G (p.Ile879Ser) c.2606T>G (p.Ile869Ser) c.2123T>G (p.Ile708Ser) c.2018T>G (p.Ile673Ser) | |
| 3 | g.122284561C>A | CA435425366 | CASR | c.2376C>A (p.Ile792=) c.2637C>A (p.Ile879=) c.2607C>A (p.Ile869=) c.2124C>A (p.Ile708=) c.2019C>A (p.Ile673=) | ClinVar |
| 3 | g.122284561C= | CA1397872620 | CASR | c.2376C= (p.Ile792=) c.2637C= (p.Ile879=) c.2607C= (p.Ile869=) c.2124C= (p.Ile708=) c.2019C= (p.Ile673=) | |
| 3 | g.122284561C>G | CA354160394 | CASR | c.2376C>G (p.Ile792Met) c.2637C>G (p.Ile879Met) c.2607C>G (p.Ile869Met) c.2124C>G (p.Ile708Met) c.2019C>G (p.Ile673Met) | |
| 3 | g.122284561C>T | CA435425367 | CASR | c.2376C>T (p.Ile792=) c.2637C>T (p.Ile879=) c.2607C>T (p.Ile869=) c.2124C>T (p.Ile708=) c.2019C>T (p.Ile673=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284562G>A | CA354160395 | CASR | c.2377G>A (p.Glu793Lys) c.2638G>A (p.Glu880Lys) c.2608G>A (p.Glu870Lys) c.2125G>A (p.Glu709Lys) c.2020G>A (p.Glu674Lys) | ClinVar gnomAD v4 COSMIC |
| 3 | g.122284562G>C | CA354160396 | CASR | c.2377G>C (p.Glu793Gln) c.2638G>C (p.Glu880Gln) c.2608G>C (p.Glu870Gln) c.2125G>C (p.Glu709Gln) c.2020G>C (p.Glu674Gln) | gnomAD v4 |
| 3 | g.122284562G>T | CA354160397 | CASR | c.2377G>T (p.Glu793Ter) c.2638G>T (p.Glu880Ter) c.2608G>T (p.Glu870Ter) c.2125G>T (p.Glu709Ter) c.2020G>T (p.Glu674Ter) | |
| 3 | g.122284563A>C | CA354160398 | CASR | c.2378A>C (p.Glu793Ala) c.2639A>C (p.Glu880Ala) c.2609A>C (p.Glu870Ala) c.2126A>C (p.Glu709Ala) c.2021A>C (p.Glu674Ala) | |
| 3 | g.122284563A>G | CA354160399 | CASR | c.2378A>G (p.Glu793Gly) c.2639A>G (p.Glu880Gly) c.2609A>G (p.Glu870Gly) c.2126A>G (p.Glu709Gly) c.2021A>G (p.Glu674Gly) | |
| 3 | g.122284563A>T | CA354160400 | CASR | c.2378A>T (p.Glu793Val) c.2639A>T (p.Glu880Val) c.2609A>T (p.Glu870Val) c.2126A>T (p.Glu709Val) c.2021A>T (p.Glu674Val) | |
| 3 | g.122284564G>A | CA203217 | CASR | c.2379G>A (p.Glu793=) c.2640G>A (p.Glu880=) c.2610G>A (p.Glu870=) c.2127G>A (p.Glu709=) c.2022G>A (p.Glu674=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284564G>C | CA354160401 | CASR | c.2379G>C (p.Glu793Asp) c.2640G>C (p.Glu880Asp) c.2610G>C (p.Glu870Asp) c.2127G>C (p.Glu709Asp) c.2022G>C (p.Glu674Asp) | |
| 3 | g.122284564G= | CA1397872625 | CASR | c.2379G= (p.Glu793=) c.2640G= (p.Glu880=) c.2610G= (p.Glu870=) c.2127G= (p.Glu709=) c.2022G= (p.Glu674=) | |
| 3 | g.122284564G>T | CA354160402 | CASR | c.2379G>T (p.Glu793Asp) c.2640G>T (p.Glu880Asp) c.2610G>T (p.Glu870Asp) c.2127G>T (p.Glu709Asp) c.2022G>T (p.Glu674Asp) | |
| 3 | g.122284565G>A | CA354160403 | CASR | c.2380G>A (p.Glu794Lys) c.2641G>A (p.Glu881Lys) c.2611G>A (p.Glu871Lys) c.2128G>A (p.Glu710Lys) c.2023G>A (p.Glu675Lys) | COSMIC |
| 3 | g.122284565G>C | CA354160404 | CASR | c.2380G>C (p.Glu794Gln) c.2641G>C (p.Glu881Gln) c.2611G>C (p.Glu871Gln) c.2128G>C (p.Glu710Gln) c.2023G>C (p.Glu675Gln) | |
| 3 | g.122284565G= | CA1397872631 | CASR | c.2380G= (p.Glu794=) c.2641G= (p.Glu881=) c.2611G= (p.Glu871=) c.2128G= (p.Glu710=) c.2023G= (p.Glu675=) | |
| 3 | g.122284565G>T | CA16604790 | CASR | c.2380G>T (p.Glu794Ter) c.2641G>T (p.Glu881Ter) c.2611G>T (p.Glu871Ter) c.2128G>T (p.Glu710Ter) c.2023G>T (p.Glu675Ter) | ClinVar dbSNP |
| 3 | g.122284566A>C | CA354160405 | CASR | c.2381A>C (p.Glu794Ala) c.2642A>C (p.Glu881Ala) c.2612A>C (p.Glu871Ala) c.2129A>C (p.Glu710Ala) c.2024A>C (p.Glu675Ala) | |
| 3 | g.122284566A>G | CA354160406 | CASR | c.2381A>G (p.Glu794Gly) c.2642A>G (p.Glu881Gly) c.2612A>G (p.Glu871Gly) c.2129A>G (p.Glu710Gly) c.2024A>G (p.Glu675Gly) | |
| 3 | g.122284566A>T | CA354160407 | CASR | c.2381A>T (p.Glu794Val) c.2642A>T (p.Glu881Val) c.2612A>T (p.Glu871Val) c.2129A>T (p.Glu710Val) c.2024A>T (p.Glu675Val) | |
| 3 | g.122284567G>A | CA435425375 | CASR | c.2382G>A (p.Glu794=) c.2643G>A (p.Glu881=) c.2613G>A (p.Glu871=) c.2130G>A (p.Glu710=) c.2025G>A (p.Glu675=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284567G>C | CA354160408 | CASR | c.2382G>C (p.Glu794Asp) c.2643G>C (p.Glu881Asp) c.2613G>C (p.Glu871Asp) c.2130G>C (p.Glu710Asp) c.2025G>C (p.Glu675Asp) | dbSNP |
| 3 | g.122284567G= | CA1397872637 | CASR | c.2382G= (p.Glu794=) c.2643G= (p.Glu881=) c.2613G= (p.Glu871=) c.2130G= (p.Glu710=) c.2025G= (p.Glu675=) | |
| 3 | g.122284567G>T | CA354160409 | CASR | c.2382G>T (p.Glu794Asp) c.2643G>T (p.Glu881Asp) c.2613G>T (p.Glu871Asp) c.2130G>T (p.Glu710Asp) c.2025G>T (p.Glu675Asp) | |
| 3 | g.122284568G>A | CA354160410 | CASR | c.2383G>A (p.Val795Met) c.2644G>A (p.Val882Met) c.2614G>A (p.Val872Met) c.2131G>A (p.Val711Met) c.2026G>A (p.Val676Met) | ClinVar |
| 3 | g.122284568G>C | CA354160411 | CASR | c.2383G>C (p.Val795Leu) c.2644G>C (p.Val882Leu) c.2614G>C (p.Val872Leu) c.2131G>C (p.Val711Leu) c.2026G>C (p.Val676Leu) | |
| 3 | g.122284568G>T | CA354160412 | CASR | c.2383G>T (p.Val795Leu) c.2644G>T (p.Val882Leu) c.2614G>T (p.Val872Leu) c.2131G>T (p.Val711Leu) c.2026G>T (p.Val676Leu) | |
| 3 | g.122284569T>A | CA354160413 | CASR | c.2384T>A (p.Val795Glu) c.2645T>A (p.Val882Glu) c.2615T>A (p.Val872Glu) c.2132T>A (p.Val711Glu) c.2027T>A (p.Val676Glu) | |
| 3 | g.122284569T>C | CA354160414 | CASR | c.2384T>C (p.Val795Ala) c.2645T>C (p.Val882Ala) c.2615T>C (p.Val872Ala) c.2132T>C (p.Val711Ala) c.2027T>C (p.Val676Ala) | gnomAD v4 |
| 3 | g.122284569T>G | CA354160415 | CASR | c.2384T>G (p.Val795Gly) c.2645T>G (p.Val882Gly) c.2615T>G (p.Val872Gly) c.2132T>G (p.Val711Gly) c.2027T>G (p.Val676Gly) | |
| 3 | g.122284570G>A | CA435425377 | CASR | c.2385G>A (p.Val795=) c.2646G>A (p.Val882=) c.2616G>A (p.Val872=) c.2133G>A (p.Val711=) c.2028G>A (p.Val676=) | gnomAD v4 |
| 3 | g.122284570G>C | CA435425378 | CASR | c.2385G>C (p.Val795=) c.2646G>C (p.Val882=) c.2616G>C (p.Val872=) c.2133G>C (p.Val711=) c.2028G>C (p.Val676=) | ClinVar |
| 3 | g.122284570G>T | CA435425379 | CASR | c.2385G>T (p.Val795=) c.2646G>T (p.Val882=) c.2616G>T (p.Val872=) c.2133G>T (p.Val711=) c.2028G>T (p.Val676=) | |
| 3 | g.122284571C>A | CA354160417 | CASR | c.2386C>A (p.Arg796Ser) c.2647C>A (p.Arg883Ser) c.2617C>A (p.Arg873Ser) c.2134C>A (p.Arg712Ser) c.2029C>A (p.Arg677Ser) | |
| 3 | g.122284571C= | CA1397872641 | CASR | c.2386C= (p.Arg796=) c.2647C= (p.Arg883=) c.2617C= (p.Arg873=) c.2134C= (p.Arg712=) c.2029C= (p.Arg677=) | |
| 3 | g.122284571C>G | CA354160418 | CASR | c.2386C>G (p.Arg796Gly) c.2647C>G (p.Arg883Gly) c.2617C>G (p.Arg873Gly) c.2134C>G (p.Arg712Gly) c.2029C>G (p.Arg677Gly) | |
| 3 | g.122284571C>T | CA354160416 | CASR | c.2386C>T (p.Arg796Cys) c.2647C>T (p.Arg883Cys) c.2617C>T (p.Arg873Cys) c.2134C>T (p.Arg712Cys) c.2029C>T (p.Arg677Cys) | ClinVar dbSNP COSMIC |
| 3 | g.122284572G>A | CA354160419 | CASR | c.2387G>A (p.Arg796His) c.2648G>A (p.Arg883His) c.2618G>A (p.Arg873His) c.2135G>A (p.Arg712His) c.2030G>A (p.Arg677His) | ClinVar gnomAD v4 COSMIC |
| 3 | g.122284572G>C | CA354160420 | CASR | c.2387G>C (p.Arg796Pro) c.2648G>C (p.Arg883Pro) c.2618G>C (p.Arg873Pro) c.2135G>C (p.Arg712Pro) c.2030G>C (p.Arg677Pro) | ClinVar dbSNP |
| 3 | g.122284572G>T | CA354160421 | CASR | c.2387G>T (p.Arg796Leu) c.2648G>T (p.Arg883Leu) c.2618G>T (p.Arg873Leu) c.2135G>T (p.Arg712Leu) c.2030G>T (p.Arg677Leu) | |
| 3 | g.122284573T>A | CA435425385 | CASR | c.2388T>A (p.Arg796=) c.2649T>A (p.Arg883=) c.2619T>A (p.Arg873=) c.2136T>A (p.Arg712=) c.2031T>A (p.Arg677=) | |
| 3 | g.122284573T>C | CA435425384 | CASR | c.2388T>C (p.Arg796=) c.2649T>C (p.Arg883=) c.2619T>C (p.Arg873=) c.2136T>C (p.Arg712=) c.2031T>C (p.Arg677=) | |
| 3 | g.122284573T>G | CA435425383 | CASR | c.2388T>G (p.Arg796=) c.2649T>G (p.Arg883=) c.2619T>G (p.Arg873=) c.2136T>G (p.Arg712=) c.2031T>G (p.Arg677=) | |
| 3 | g.122284574T>A | CA354160422 | CASR | c.2389T>A (p.Cys797Ser) c.2650T>A (p.Cys884Ser) c.2620T>A (p.Cys874Ser) c.2137T>A (p.Cys713Ser) c.2032T>A (p.Cys678Ser) | |
| 3 | g.122284574T>C | CA354160423 | CASR | c.2389T>C (p.Cys797Arg) c.2650T>C (p.Cys884Arg) c.2620T>C (p.Cys874Arg) c.2137T>C (p.Cys713Arg) c.2032T>C (p.Cys678Arg) | |
| 3 | g.122284574T>G | CA354160424 | CASR | c.2389T>G (p.Cys797Gly) c.2650T>G (p.Cys884Gly) c.2620T>G (p.Cys874Gly) c.2137T>G (p.Cys713Gly) c.2032T>G (p.Cys678Gly) | dbSNP |
| 3 | g.122284574T= | CA1397872648 | CASR | c.2389T= (p.Cys797=) c.2650T= (p.Cys884=) c.2620T= (p.Cys874=) c.2137T= (p.Cys713=) c.2032T= (p.Cys678=) | |
| 3 | g.122284575G>A | CA354160425 | CASR | c.2390G>A (p.Cys797Tyr) c.2651G>A (p.Cys884Tyr) c.2621G>A (p.Cys874Tyr) c.2138G>A (p.Cys713Tyr) c.2033G>A (p.Cys678Tyr) | |
| 3 | g.122284575G>C | CA354160427 | CASR | c.2390G>C (p.Cys797Ser) c.2651G>C (p.Cys884Ser) c.2621G>C (p.Cys874Ser) c.2138G>C (p.Cys713Ser) c.2033G>C (p.Cys678Ser) | |
| 3 | g.122284575G>T | CA354160426 | CASR | c.2390G>T (p.Cys797Phe) c.2651G>T (p.Cys884Phe) c.2621G>T (p.Cys874Phe) c.2138G>T (p.Cys713Phe) c.2033G>T (p.Cys678Phe) | |
| 3 | g.122284580_122284587del | CA2580068664 | CASR | c.2395_2402del (p.Thr799SerfsTer?) c.2656_2663del (p.Thr886SerfsTer?) c.2626_2633del (p.Thr876SerfsTer?) c.2143_2150del (p.Thr715SerfsTer?) c.2038_2045del (p.Thr680SerfsTer?) | ClinVar |
| 3 | g.122284576C>A | CA354160428 | CASR | c.2391C>A (p.Cys797Ter) c.2652C>A (p.Cys884Ter) c.2622C>A (p.Cys874Ter) c.2139C>A (p.Cys713Ter) c.2034C>A (p.Cys678Ter) | |
| 3 | g.122284576C>G | CA354160429 | CASR | c.2391C>G (p.Cys797Trp) c.2652C>G (p.Cys884Trp) c.2622C>G (p.Cys874Trp) c.2139C>G (p.Cys713Trp) c.2034C>G (p.Cys678Trp) | |
| 3 | g.122284576C>T | CA435425388 | CASR | c.2391C>T (p.Cys797=) c.2652C>T (p.Cys884=) c.2622C>T (p.Cys874=) c.2139C>T (p.Cys713=) c.2034C>T (p.Cys678=) | |
| 3 | g.122284577A>C | CA354160430 | CASR | c.2392A>C (p.Ser798Arg) c.2653A>C (p.Ser885Arg) c.2623A>C (p.Ser875Arg) c.2140A>C (p.Ser714Arg) c.2035A>C (p.Ser679Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284577A>G | CA354160431 | CASR | c.2392A>G (p.Ser798Gly) c.2653A>G (p.Ser885Gly) c.2623A>G (p.Ser875Gly) c.2140A>G (p.Ser714Gly) c.2035A>G (p.Ser679Gly) | |
| 3 | g.122284577A>T | CA354160432 | CASR | c.2392A>T (p.Ser798Cys) c.2653A>T (p.Ser885Cys) c.2623A>T (p.Ser875Cys) c.2140A>T (p.Ser714Cys) c.2035A>T (p.Ser679Cys) | |
| 3 | g.122284578del | CA2667224703 | CASR | c.2393del (p.Ser798ThrfsTer?) c.2654del (p.Ser885ThrfsTer?) c.2624del (p.Ser875ThrfsTer?) c.2141del (p.Ser714ThrfsTer?) c.2036del (p.Ser679ThrfsTer?) | gnomAD v4 |
| 3 | g.122284578G>A | CA354160434 | CASR | c.2393G>A (p.Ser798Asn) c.2654G>A (p.Ser885Asn) c.2624G>A (p.Ser875Asn) c.2141G>A (p.Ser714Asn) c.2036G>A (p.Ser679Asn) | |
| 3 | g.122284578G>C | CA354160435 | CASR | c.2393G>C (p.Ser798Thr) c.2654G>C (p.Ser885Thr) c.2624G>C (p.Ser875Thr) c.2141G>C (p.Ser714Thr) c.2036G>C (p.Ser679Thr) | |
| 3 | g.122284578G>T | CA354160433 | CASR | c.2393G>T (p.Ser798Ile) c.2654G>T (p.Ser885Ile) c.2624G>T (p.Ser875Ile) c.2141G>T (p.Ser714Ile) c.2036G>T (p.Ser679Ile) | |
| 3 | g.122284579C>A | CA354160437 | CASR | c.2394C>A (p.Ser798Arg) c.2655C>A (p.Ser885Arg) c.2625C>A (p.Ser875Arg) c.2142C>A (p.Ser714Arg) c.2037C>A (p.Ser679Arg) | |
| 3 | g.122284579C= | CA1397872651 | CASR | c.2394C= (p.Ser798=) c.2655C= (p.Ser885=) c.2625C= (p.Ser875=) c.2142C= (p.Ser714=) c.2037C= (p.Ser679=) | |
| 3 | g.122284579C>G | CA354160436 | CASR | c.2394C>G (p.Ser798Arg) c.2655C>G (p.Ser885Arg) c.2625C>G (p.Ser875Arg) c.2142C>G (p.Ser714Arg) c.2037C>G (p.Ser679Arg) | |
| 3 | g.122284579C>T | CA435425392 | CASR | c.2394C>T (p.Ser798=) c.2655C>T (p.Ser885=) c.2625C>T (p.Ser875=) c.2142C>T (p.Ser714=) c.2037C>T (p.Ser679=) | ClinVar dbSNP |
| 3 | g.122284580A= | CA1397872654 | CASR | c.2395A= (p.Thr799=) c.2656A= (p.Thr886=) c.2626A= (p.Thr876=) c.2143A= (p.Thr715=) c.2038A= (p.Thr680=) | |
| 3 | g.122284580A>C | CA354160440 | CASR | c.2395A>C (p.Thr799Pro) c.2656A>C (p.Thr886Pro) c.2626A>C (p.Thr876Pro) c.2143A>C (p.Thr715Pro) c.2038A>C (p.Thr680Pro) | dbSNP |
| 3 | g.122284580A>G | CA354160438 | CASR | c.2395A>G (p.Thr799Ala) c.2656A>G (p.Thr886Ala) c.2626A>G (p.Thr876Ala) c.2143A>G (p.Thr715Ala) c.2038A>G (p.Thr680Ala) | |
| 3 | g.122284580A>T | CA354160439 | CASR | c.2395A>T (p.Thr799Ser) c.2656A>T (p.Thr886Ser) c.2626A>T (p.Thr876Ser) c.2143A>T (p.Thr715Ser) c.2038A>T (p.Thr680Ser) | |
| 3 | g.122284581C>A | CA354160441 | CASR | c.2396C>A (p.Thr799Asn) c.2657C>A (p.Thr886Asn) c.2627C>A (p.Thr876Asn) c.2144C>A (p.Thr715Asn) c.2039C>A (p.Thr680Asn) | ClinVar |
| 3 | g.122284581C= | CA1397872658 | CASR | c.2396C= (p.Thr799=) c.2657C= (p.Thr886=) c.2627C= (p.Thr876=) c.2144C= (p.Thr715=) c.2039C= (p.Thr680=) | |
| 3 | g.122284581C>G | CA354160442 | CASR | c.2396C>G (p.Thr799Ser) c.2657C>G (p.Thr886Ser) c.2627C>G (p.Thr876Ser) c.2144C>G (p.Thr715Ser) c.2039C>G (p.Thr680Ser) | |
| 3 | g.122284581C>T | CA354160443 | CASR | c.2396C>T (p.Thr799Ile) c.2657C>T (p.Thr886Ile) c.2627C>T (p.Thr876Ile) c.2144C>T (p.Thr715Ile) c.2039C>T (p.Thr680Ile) | ClinVar dbSNP |
| 3 | g.122284582C>A | CA435425394 | CASR | c.2397C>A (p.Thr799=) c.2658C>A (p.Thr886=) c.2628C>A (p.Thr876=) c.2145C>A (p.Thr715=) c.2040C>A (p.Thr680=) | ClinVar gnomAD v4 |
| 3 | g.122284582C= | CA1397872666 | CASR | c.2397C= (p.Thr799=) c.2658C= (p.Thr886=) c.2628C= (p.Thr876=) c.2145C= (p.Thr715=) c.2040C= (p.Thr680=) | |
| 3 | g.122284582C>G | CA2569838 | CASR | c.2397C>G (p.Thr799=) c.2658C>G (p.Thr886=) c.2628C>G (p.Thr876=) c.2145C>G (p.Thr715=) c.2040C>G (p.Thr680=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284582C>T | CA435425395 | CASR | c.2397C>T (p.Thr799=) c.2658C>T (p.Thr886=) c.2628C>T (p.Thr876=) c.2145C>T (p.Thr715=) c.2040C>T (p.Thr680=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284583G>A | CA354160444 | CASR | c.2398G>A (p.Ala800Thr) c.2659G>A (p.Ala887Thr) c.2629G>A (p.Ala877Thr) c.2146G>A (p.Ala716Thr) c.2041G>A (p.Ala681Thr) | ClinVar dbSNP |
| 3 | g.122284583G>C | CA354160445 | CASR | c.2398G>C (p.Ala800Pro) c.2659G>C (p.Ala887Pro) c.2629G>C (p.Ala877Pro) c.2146G>C (p.Ala716Pro) c.2041G>C (p.Ala681Pro) | |
| 3 | g.122284583G>T | CA354160446 | CASR | c.2398G>T (p.Ala800Ser) c.2659G>T (p.Ala887Ser) c.2629G>T (p.Ala877Ser) c.2146G>T (p.Ala716Ser) c.2041G>T (p.Ala681Ser) | |
| 3 | g.122284584C>A | CA354160447 | CASR | c.2399C>A (p.Ala800Glu) c.2660C>A (p.Ala887Glu) c.2630C>A (p.Ala877Glu) c.2147C>A (p.Ala716Glu) c.2042C>A (p.Ala681Glu) | |
| 3 | g.122284584C>G | CA354160448 | CASR | c.2399C>G (p.Ala800Gly) c.2660C>G (p.Ala887Gly) c.2630C>G (p.Ala877Gly) c.2147C>G (p.Ala716Gly) c.2042C>G (p.Ala681Gly) | |
| 3 | g.122284584C>T | CA354160449 | CASR | c.2399C>T (p.Ala800Val) c.2660C>T (p.Ala887Val) c.2630C>T (p.Ala877Val) c.2147C>T (p.Ala716Val) c.2042C>T (p.Ala681Val) | |
| 3 | g.122284585A>C | CA435425397 | CASR | c.2400A>C (p.Ala800=) c.2661A>C (p.Ala887=) c.2631A>C (p.Ala877=) c.2148A>C (p.Ala716=) c.2043A>C (p.Ala681=) | ClinVar |
| 3 | g.122284585A>G | CA435425398 | CASR | c.2400A>G (p.Ala800=) c.2661A>G (p.Ala887=) c.2631A>G (p.Ala877=) c.2148A>G (p.Ala716=) c.2043A>G (p.Ala681=) | |
| 3 | g.122284585A>T | CA435425399 | CASR | c.2400A>T (p.Ala800=) c.2661A>T (p.Ala887=) c.2631A>T (p.Ala877=) c.2148A>T (p.Ala716=) c.2043A>T (p.Ala681=) | |
| 3 | g.122284586G>A | CA354160452 | CASR | c.2401G>A (p.Ala801Thr) c.2662G>A (p.Ala888Thr) c.2632G>A (p.Ala878Thr) c.2149G>A (p.Ala717Thr) c.2044G>A (p.Ala682Thr) | |
| 3 | g.122284586G>C | CA354160450 | CASR | c.2401G>C (p.Ala801Pro) c.2662G>C (p.Ala888Pro) c.2632G>C (p.Ala878Pro) c.2149G>C (p.Ala717Pro) c.2044G>C (p.Ala682Pro) | |
| 3 | g.122284586G>T | CA354160451 | CASR | c.2401G>T (p.Ala801Ser) c.2662G>T (p.Ala888Ser) c.2632G>T (p.Ala878Ser) c.2149G>T (p.Ala717Ser) c.2044G>T (p.Ala682Ser) | |
| 3 | g.122284587C>A | CA354160453 | CASR | c.2402C>A (p.Ala801Asp) c.2663C>A (p.Ala888Asp) c.2633C>A (p.Ala878Asp) c.2150C>A (p.Ala717Asp) c.2045C>A (p.Ala682Asp) | |
| 3 | g.122284587C>G | CA354160454 | CASR | c.2402C>G (p.Ala801Gly) c.2663C>G (p.Ala888Gly) c.2633C>G (p.Ala878Gly) c.2150C>G (p.Ala717Gly) c.2045C>G (p.Ala682Gly) | gnomAD v4 |
| 3 | g.122284587C>T | CA354160455 | CASR | c.2402C>T (p.Ala801Val) c.2663C>T (p.Ala888Val) c.2633C>T (p.Ala878Val) c.2150C>T (p.Ala717Val) c.2045C>T (p.Ala682Val) | |
| 3 | g.122284588T>A | CA435425404 | CASR | c.2403T>A (p.Ala801=) c.2664T>A (p.Ala888=) c.2634T>A (p.Ala878=) c.2151T>A (p.Ala717=) c.2046T>A (p.Ala682=) | ClinVar dbSNP |
| 3 | g.122284588T>C | CA435425403 | CASR | c.2403T>C (p.Ala801=) c.2664T>C (p.Ala888=) c.2634T>C (p.Ala878=) c.2151T>C (p.Ala717=) c.2046T>C (p.Ala682=) | |
| 3 | g.122284588T>G | CA435425401 | CASR | c.2403T>G (p.Ala801=) c.2664T>G (p.Ala888=) c.2634T>G (p.Ala878=) c.2151T>G (p.Ala717=) c.2046T>G (p.Ala682=) | |
| 3 | g.122284588T= | CA1397872669 | CASR | c.2403T= (p.Ala801=) c.2664T= (p.Ala888=) c.2634T= (p.Ala878=) c.2151T= (p.Ala717=) c.2046T= (p.Ala682=) | |
| 3 | g.122284589C>A | CA354160456 | CASR | c.2404C>A (p.His802Asn) c.2665C>A (p.His889Asn) c.2635C>A (p.His879Asn) c.2152C>A (p.His718Asn) c.2047C>A (p.His683Asn) | |
| 3 | g.122284589C= | CA1397872674 | CASR | c.2404C= (p.His802=) c.2665C= (p.His889=) c.2635C= (p.His879=) c.2152C= (p.His718=) c.2047C= (p.His683=) | |
| 3 | g.122284589C>G | CA354160457 | CASR | c.2404C>G (p.His802Asp) c.2665C>G (p.His889Asp) c.2635C>G (p.His879Asp) c.2152C>G (p.His718Asp) c.2047C>G (p.His683Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284589C>T | CA354160458 | CASR | c.2404C>T (p.His802Tyr) c.2665C>T (p.His889Tyr) c.2635C>T (p.His879Tyr) c.2152C>T (p.His718Tyr) c.2047C>T (p.His683Tyr) | COSMIC |
| 3 | g.122284590A>C | CA354160459 | CASR | c.2405A>C (p.His802Pro) c.2666A>C (p.His889Pro) c.2636A>C (p.His879Pro) c.2153A>C (p.His718Pro) c.2048A>C (p.His683Pro) | |
| 3 | g.122284590A>G | CA354160460 | CASR | c.2405A>G (p.His802Arg) c.2666A>G (p.His889Arg) c.2636A>G (p.His879Arg) c.2153A>G (p.His718Arg) c.2048A>G (p.His683Arg) | |
| 3 | g.122284590A>T | CA354160461 | CASR | c.2405A>T (p.His802Leu) c.2666A>T (p.His889Leu) c.2636A>T (p.His879Leu) c.2153A>T (p.His718Leu) c.2048A>T (p.His683Leu) | |
| 3 | g.122284591C>A | CA354160462 | CASR | c.2406C>A (p.His802Gln) c.2667C>A (p.His889Gln) c.2637C>A (p.His879Gln) c.2154C>A (p.His718Gln) c.2049C>A (p.His683Gln) | ClinVar dbSNP |
| 3 | g.122284591C= | CA1397872678 | CASR | c.2406C= (p.His802=) c.2667C= (p.His889=) c.2637C= (p.His879=) c.2154C= (p.His718=) c.2049C= (p.His683=) | |
| 3 | g.122284591C>G | CA354160463 | CASR | c.2406C>G (p.His802Gln) c.2667C>G (p.His889Gln) c.2637C>G (p.His879Gln) c.2154C>G (p.His718Gln) c.2049C>G (p.His683Gln) | ClinVar dbSNP |
| 3 | g.122284591C>T | CA435425406 | CASR | c.2406C>T (p.His802=) c.2667C>T (p.His889=) c.2637C>T (p.His879=) c.2154C>T (p.His718=) c.2049C>T (p.His683=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284592G>A | CA82749105 | CASR | c.2407G>A (p.Ala803Thr) c.2668G>A (p.Ala890Thr) c.2638G>A (p.Ala880Thr) c.2155G>A (p.Ala719Thr) c.2050G>A (p.Ala684Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284592G>C | CA354160464 | CASR | c.2407G>C (p.Ala803Pro) c.2668G>C (p.Ala890Pro) c.2638G>C (p.Ala880Pro) c.2155G>C (p.Ala719Pro) c.2050G>C (p.Ala684Pro) | ClinVar dbSNP |
| 3 | g.122284592G= | CA1397872688 | CASR | c.2407G= (p.Ala803=) c.2668G= (p.Ala890=) c.2638G= (p.Ala880=) c.2155G= (p.Ala719=) c.2050G= (p.Ala684=) | |
| 3 | g.122284592G>T | CA2569839 | CASR | c.2407G>T (p.Ala803Ser) c.2668G>T (p.Ala890Ser) c.2638G>T (p.Ala880Ser) c.2155G>T (p.Ala719Ser) c.2050G>T (p.Ala684Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284593C>A | CA354160465 | CASR | c.2408C>A (p.Ala803Asp) c.2669C>A (p.Ala890Asp) c.2639C>A (p.Ala880Asp) c.2156C>A (p.Ala719Asp) c.2051C>A (p.Ala684Asp) | |
| 3 | g.122284593C>G | CA354160466 | CASR | c.2408C>G (p.Ala803Gly) c.2669C>G (p.Ala890Gly) c.2639C>G (p.Ala880Gly) c.2156C>G (p.Ala719Gly) c.2051C>G (p.Ala684Gly) | ClinVar |
| 3 | g.122284593C>T | CA354160467 | CASR | c.2408C>T (p.Ala803Val) c.2669C>T (p.Ala890Val) c.2639C>T (p.Ala880Val) c.2156C>T (p.Ala719Val) c.2051C>T (p.Ala684Val) | ClinVar |
| 3 | g.122284594T>A | CA435425407 | CASR | c.2409T>A (p.Ala803=) c.2670T>A (p.Ala890=) c.2640T>A (p.Ala880=) c.2157T>A (p.Ala719=) c.2052T>A (p.Ala684=) | |
| 3 | g.122284594T>C | CA435425409 | CASR | c.2409T>C (p.Ala803=) c.2670T>C (p.Ala890=) c.2640T>C (p.Ala880=) c.2157T>C (p.Ala719=) c.2052T>C (p.Ala684=) | |
| 3 | g.122284594T>G | CA435425410 | CASR | c.2409T>G (p.Ala803=) c.2670T>G (p.Ala890=) c.2640T>G (p.Ala880=) c.2157T>G (p.Ala719=) c.2052T>G (p.Ala684=) |