| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284261C>A | CA435424866 | CASR | c.2076C>A (p.Ser692=) c.2337C>A (p.Ser779=) c.2307C>A (p.Ser769=) c.1824C>A (p.Ser608=) c.1719C>A (p.Ser573=) | |
| 3 | g.122284261C= | CA1397872028 | CASR | c.2076C= (p.Ser692=) c.2337C= (p.Ser779=) c.2307C= (p.Ser769=) c.1824C= (p.Ser608=) c.1719C= (p.Ser573=) | |
| 3 | g.122284261C>G | CA435424867 | CASR | c.2076C>G (p.Ser692=) c.2337C>G (p.Ser779=) c.2307C>G (p.Ser769=) c.1824C>G (p.Ser608=) c.1719C>G (p.Ser573=) | dbSNP |
| 3 | g.122284261C>T | CA82748907 | CASR | c.2076C>T (p.Ser692=) c.2337C>T (p.Ser779=) c.2307C>T (p.Ser769=) c.1824C>T (p.Ser608=) c.1719C>T (p.Ser573=) | dbSNP |
| 3 | g.122284262C>A | CA354159442 | CASR | c.2077C>A (p.Leu693Ile) c.2338C>A (p.Leu780Ile) c.2308C>A (p.Leu770Ile) c.1825C>A (p.Leu609Ile) c.1720C>A (p.Leu574Ile) | COSMIC |
| 3 | g.122284262C>G | CA354159443 | CASR | c.2077C>G (p.Leu693Val) c.2338C>G (p.Leu780Val) c.2308C>G (p.Leu770Val) c.1825C>G (p.Leu609Val) c.1720C>G (p.Leu574Val) | |
| 3 | g.122284262C>T | CA354159445 | CASR | c.2077C>T (p.Leu693Phe) c.2338C>T (p.Leu780Phe) c.2308C>T (p.Leu770Phe) c.1825C>T (p.Leu609Phe) c.1720C>T (p.Leu574Phe) | |
| 3 | g.122284263T>A | CA354159447 | CASR | c.2078T>A (p.Leu693His) c.2339T>A (p.Leu780His) c.2309T>A (p.Leu770His) c.1826T>A (p.Leu609His) c.1721T>A (p.Leu574His) | |
| 3 | g.122284263T>C | CA354159449 | CASR | c.2078T>C (p.Leu693Pro) c.2339T>C (p.Leu780Pro) c.2309T>C (p.Leu770Pro) c.1826T>C (p.Leu609Pro) c.1721T>C (p.Leu574Pro) | |
| 3 | g.122284263T>G | CA354159451 | CASR | c.2078T>G (p.Leu693Arg) c.2339T>G (p.Leu780Arg) c.2309T>G (p.Leu770Arg) c.1826T>G (p.Leu609Arg) c.1721T>G (p.Leu574Arg) | |
| 3 | g.122284264C>A | CA435424873 | CASR | c.2079C>A (p.Leu693=) c.2340C>A (p.Leu780=) c.2310C>A (p.Leu770=) c.1827C>A (p.Leu609=) c.1722C>A (p.Leu574=) | |
| 3 | g.122284264C>G | CA435424875 | CASR | c.2079C>G (p.Leu693=) c.2340C>G (p.Leu780=) c.2310C>G (p.Leu770=) c.1827C>G (p.Leu609=) c.1722C>G (p.Leu574=) | |
| 3 | g.122284264C>T | CA435424876 | CASR | c.2079C>T (p.Leu693=) c.2340C>T (p.Leu780=) c.2310C>T (p.Leu770=) c.1827C>T (p.Leu609=) c.1722C>T (p.Leu574=) | |
| 3 | g.122284265A= | CA1397872033 | CASR | c.2080A= (p.Met694=) c.2341A= (p.Met781=) c.2311A= (p.Met771=) c.1828A= (p.Met610=) c.1723A= (p.Met575=) | |
| 3 | g.122284265A>C | CA354159456 | CASR | c.2080A>C (p.Met694Leu) c.2341A>C (p.Met781Leu) c.2311A>C (p.Met771Leu) c.1828A>C (p.Met610Leu) c.1723A>C (p.Met575Leu) | gnomAD v4 |
| 3 | g.122284265A>G | CA354159455 | CASR | c.2080A>G (p.Met694Val) c.2341A>G (p.Met781Val) c.2311A>G (p.Met771Val) c.1828A>G (p.Met610Val) c.1723A>G (p.Met575Val) | ClinVar |
| 3 | g.122284265A>T | CA354159453 | CASR | c.2080A>T (p.Met694Leu) c.2341A>T (p.Met781Leu) c.2311A>T (p.Met771Leu) c.1828A>T (p.Met610Leu) c.1723A>T (p.Met575Leu) | ClinVar dbSNP |
| 3 | g.122284266T>A | CA354159458 | CASR | c.2081T>A (p.Met694Lys) c.2342T>A (p.Met781Lys) c.2312T>A (p.Met771Lys) c.1829T>A (p.Met610Lys) c.1724T>A (p.Met575Lys) | |
| 3 | g.122284266T>C | CA354159460 | CASR | c.2081T>C (p.Met694Thr) c.2342T>C (p.Met781Thr) c.2312T>C (p.Met771Thr) c.1829T>C (p.Met610Thr) c.1724T>C (p.Met575Thr) | |
| 3 | g.122284266T>G | CA354159462 | CASR | c.2081T>G (p.Met694Arg) c.2342T>G (p.Met781Arg) c.2312T>G (p.Met771Arg) c.1829T>G (p.Met610Arg) c.1724T>G (p.Met575Arg) | |
| 3 | g.122284267G>A | CA354159465 | CASR | c.2082G>A (p.Met694Ile) c.2343G>A (p.Met781Ile) c.2313G>A (p.Met771Ile) c.1830G>A (p.Met610Ile) c.1725G>A (p.Met575Ile) | |
| 3 | g.122284267G>C | CA354159467 | CASR | c.2082G>C (p.Met694Ile) c.2343G>C (p.Met781Ile) c.2313G>C (p.Met771Ile) c.1830G>C (p.Met610Ile) c.1725G>C (p.Met575Ile) | |
| 3 | g.122284267G>T | CA354159468 | CASR | c.2082G>T (p.Met694Ile) c.2343G>T (p.Met781Ile) c.2313G>T (p.Met771Ile) c.1830G>T (p.Met610Ile) c.1725G>T (p.Met575Ile) | |
| 3 | g.122284268G>A | CA2569813 | CASR | c.2083G>A (p.Ala695Thr) c.2344G>A (p.Ala782Thr) c.2314G>A (p.Ala772Thr) c.1831G>A (p.Ala611Thr) c.1726G>A (p.Ala576Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284268G>C | CA354159472 | CASR | c.2083G>C (p.Ala695Pro) c.2344G>C (p.Ala782Pro) c.2314G>C (p.Ala772Pro) c.1831G>C (p.Ala611Pro) c.1726G>C (p.Ala576Pro) | |
| 3 | g.122284268G= | CA1397872041 | CASR | c.2083G= (p.Ala695=) c.2344G= (p.Ala782=) c.2314G= (p.Ala772=) c.1831G= (p.Ala611=) c.1726G= (p.Ala576=) | |
| 3 | g.122284268G>T | CA354159474 | CASR | c.2083G>T (p.Ala695Ser) c.2344G>T (p.Ala782Ser) c.2314G>T (p.Ala772Ser) c.1831G>T (p.Ala611Ser) c.1726G>T (p.Ala576Ser) | |
| 3 | g.122284269C>A | CA354159477 | CASR | c.2084C>A (p.Ala695Asp) c.2345C>A (p.Ala782Asp) c.2315C>A (p.Ala772Asp) c.1832C>A (p.Ala611Asp) c.1727C>A (p.Ala576Asp) | |
| 3 | g.122284269C= | CA1397872048 | CASR | c.2084C= (p.Ala695=) c.2345C= (p.Ala782=) c.2315C= (p.Ala772=) c.1832C= (p.Ala611=) c.1727C= (p.Ala576=) | |
| 3 | g.122284269C>G | CA354159479 | CASR | c.2084C>G (p.Ala695Gly) c.2345C>G (p.Ala782Gly) c.2315C>G (p.Ala772Gly) c.1832C>G (p.Ala611Gly) c.1727C>G (p.Ala576Gly) | gnomAD v4 |
| 3 | g.122284269C>T | CA354159481 | CASR | c.2084C>T (p.Ala695Val) c.2345C>T (p.Ala782Val) c.2315C>T (p.Ala772Val) c.1832C>T (p.Ala611Val) c.1727C>T (p.Ala576Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284270C>A | CA435424887 | CASR | c.2085C>A (p.Ala695=) c.2346C>A (p.Ala782=) c.2316C>A (p.Ala772=) c.1833C>A (p.Ala611=) c.1728C>A (p.Ala576=) | |
| 3 | g.122284270C= | CA1397872056 | CASR | c.2085C= (p.Ala695=) c.2346C= (p.Ala782=) c.2316C= (p.Ala772=) c.1833C= (p.Ala611=) c.1728C= (p.Ala576=) | |
| 3 | g.122284270C>G | CA435424889 | CASR | c.2085C>G (p.Ala695=) c.2346C>G (p.Ala782=) c.2316C>G (p.Ala772=) c.1833C>G (p.Ala611=) c.1728C>G (p.Ala576=) | |
| 3 | g.122284270C>T | CA435424892 | CASR | c.2085C>T (p.Ala695=) c.2346C>T (p.Ala782=) c.2316C>T (p.Ala772=) c.1833C>T (p.Ala611=) c.1728C>T (p.Ala576=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122284271C>A | CA354159483 | CASR | c.2086C>A (p.Leu696Met) c.2347C>A (p.Leu783Met) c.2317C>A (p.Leu773Met) c.1834C>A (p.Leu612Met) c.1729C>A (p.Leu577Met) | |
| 3 | g.122284271C= | CA1397872062 | CASR | c.2086C= (p.Leu696=) c.2347C= (p.Leu783=) c.2317C= (p.Leu773=) c.1834C= (p.Leu612=) c.1729C= (p.Leu577=) | |
| 3 | g.122284271C>G | CA354159485 | CASR | c.2086C>G (p.Leu696Val) c.2347C>G (p.Leu783Val) c.2317C>G (p.Leu773Val) c.1834C>G (p.Leu612Val) c.1729C>G (p.Leu577Val) | ClinVar |
| 3 | g.122284271C>T | CA435424896 | CASR | c.2086C>T (p.Leu696=) c.2347C>T (p.Leu783=) c.2317C>T (p.Leu773=) c.1834C>T (p.Leu612=) c.1729C>T (p.Leu577=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284272T>A | CA354159487 | CASR | c.2087T>A (p.Leu696Gln) c.2348T>A (p.Leu783Gln) c.2318T>A (p.Leu773Gln) c.1835T>A (p.Leu612Gln) c.1730T>A (p.Leu577Gln) | |
| 3 | g.122284272T>C | CA354159489 | CASR | c.2087T>C (p.Leu696Pro) c.2348T>C (p.Leu783Pro) c.2318T>C (p.Leu773Pro) c.1835T>C (p.Leu612Pro) c.1730T>C (p.Leu577Pro) | |
| 3 | g.122284272T>G | CA119495 | CASR | c.2087T>G (p.Leu696Arg) c.2348T>G (p.Leu783Arg) c.2318T>G (p.Leu773Arg) c.1835T>G (p.Leu612Arg) c.1730T>G (p.Leu577Arg) | ClinVar dbSNP |
| 3 | g.122284272T= | CA1397872068 | CASR | c.2087T= (p.Leu696=) c.2348T= (p.Leu783=) c.2318T= (p.Leu773=) c.1835T= (p.Leu612=) c.1730T= (p.Leu577=) | |
| 3 | g.122284273G>A | CA435424900 | CASR | c.2088G>A (p.Leu696=) c.2349G>A (p.Leu783=) c.2319G>A (p.Leu773=) c.1836G>A (p.Leu612=) c.1731G>A (p.Leu577=) | |
| 3 | g.122284273G>C | CA435424901 | CASR | c.2088G>C (p.Leu696=) c.2349G>C (p.Leu783=) c.2319G>C (p.Leu773=) c.1836G>C (p.Leu612=) c.1731G>C (p.Leu577=) | |
| 3 | g.122284273G>T | CA435424902 | CASR | c.2088G>T (p.Leu696=) c.2349G>T (p.Leu783=) c.2319G>T (p.Leu773=) c.1836G>T (p.Leu612=) c.1731G>T (p.Leu577=) | |
| 3 | g.122284274G>A | CA354159491 | CASR | c.2089G>A (p.Gly697Ser) c.2350G>A (p.Gly784Ser) c.2320G>A (p.Gly774Ser) c.1837G>A (p.Gly613Ser) c.1732G>A (p.Gly578Ser) | ClinVar |
| 3 | g.122284274G>C | CA354159494 | CASR | c.2089G>C (p.Gly697Arg) c.2350G>C (p.Gly784Arg) c.2320G>C (p.Gly774Arg) c.1837G>C (p.Gly613Arg) c.1732G>C (p.Gly578Arg) | |
| 3 | g.122284274G>T | CA354159496 | CASR | c.2089G>T (p.Gly697Cys) c.2350G>T (p.Gly784Cys) c.2320G>T (p.Gly774Cys) c.1837G>T (p.Gly613Cys) c.1732G>T (p.Gly578Cys) | |
| 3 | g.122284275G>A | CA354159498 | CASR | c.2090G>A (p.Gly697Asp) c.2351G>A (p.Gly784Asp) c.2321G>A (p.Gly774Asp) c.1838G>A (p.Gly613Asp) c.1733G>A (p.Gly578Asp) | |
| 3 | g.122284275G>C | CA354159501 | CASR | c.2090G>C (p.Gly697Ala) c.2351G>C (p.Gly784Ala) c.2321G>C (p.Gly774Ala) c.1838G>C (p.Gly613Ala) c.1733G>C (p.Gly578Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284275G= | CA1397872074 | CASR | c.2090G= (p.Gly697=) c.2351G= (p.Gly784=) c.2321G= (p.Gly774=) c.1838G= (p.Gly613=) c.1733G= (p.Gly578=) | |
| 3 | g.122284275G>T | CA354159503 | CASR | c.2090G>T (p.Gly697Val) c.2351G>T (p.Gly784Val) c.2321G>T (p.Gly774Val) c.1838G>T (p.Gly613Val) c.1733G>T (p.Gly578Val) | |
| 3 | g.122284276C>A | CA435424911 | CASR | c.2091C>A (p.Gly697=) c.2352C>A (p.Gly784=) c.2322C>A (p.Gly774=) c.1839C>A (p.Gly613=) c.1734C>A (p.Gly578=) | ClinVar |
| 3 | g.122284276C>G | CA435424914 | CASR | c.2091C>G (p.Gly697=) c.2352C>G (p.Gly784=) c.2322C>G (p.Gly774=) c.1839C>G (p.Gly613=) c.1734C>G (p.Gly578=) | |
| 3 | g.122284276C>T | CA435424915 | CASR | c.2091C>T (p.Gly697=) c.2352C>T (p.Gly784=) c.2322C>T (p.Gly774=) c.1839C>T (p.Gly613=) c.1734C>T (p.Gly578=) | |
| 3 | g.122284277T>A | CA354159505 | CASR | c.2092T>A (p.Phe698Ile) c.2353T>A (p.Phe785Ile) c.2323T>A (p.Phe775Ile) c.1840T>A (p.Phe614Ile) c.1735T>A (p.Phe579Ile) | |
| 3 | g.122284277T>C | CA354159507 | CASR | c.2092T>C (p.Phe698Leu) c.2353T>C (p.Phe785Leu) c.2323T>C (p.Phe775Leu) c.1840T>C (p.Phe614Leu) c.1735T>C (p.Phe579Leu) | |
| 3 | g.122284277T>G | CA354159509 | CASR | c.2092T>G (p.Phe698Val) c.2353T>G (p.Phe785Val) c.2323T>G (p.Phe775Val) c.1840T>G (p.Phe614Val) c.1735T>G (p.Phe579Val) | ClinVar |
| 3 | g.122284278T>A | CA354159512 | CASR | c.2093T>A (p.Phe698Tyr) c.2354T>A (p.Phe785Tyr) c.2324T>A (p.Phe775Tyr) c.1841T>A (p.Phe614Tyr) c.1736T>A (p.Phe579Tyr) | |
| 3 | g.122284278T>C | CA354159513 | CASR | c.2093T>C (p.Phe698Ser) c.2354T>C (p.Phe785Ser) c.2324T>C (p.Phe775Ser) c.1841T>C (p.Phe614Ser) c.1736T>C (p.Phe579Ser) | ClinVar |
| 3 | g.122284278T>G | CA354159515 | CASR | c.2093T>G (p.Phe698Cys) c.2354T>G (p.Phe785Cys) c.2324T>G (p.Phe775Cys) c.1841T>G (p.Phe614Cys) c.1736T>G (p.Phe579Cys) | |
| 3 | g.122284279C>A | CA354159519 | CASR | c.2094C>A (p.Phe698Leu) c.2355C>A (p.Phe785Leu) c.2325C>A (p.Phe775Leu) c.1842C>A (p.Phe614Leu) c.1737C>A (p.Phe579Leu) | |
| 3 | g.122284279C= | CA1397872078 | CASR | c.2094C= (p.Phe698=) c.2355C= (p.Phe785=) c.2325C= (p.Phe775=) c.1842C= (p.Phe614=) c.1737C= (p.Phe579=) | |
| 3 | g.122284279C>G | CA354159517 | CASR | c.2094C>G (p.Phe698Leu) c.2355C>G (p.Phe785Leu) c.2325C>G (p.Phe775Leu) c.1842C>G (p.Phe614Leu) c.1737C>G (p.Phe579Leu) | ClinVar dbSNP |
| 3 | g.122284279C>T | CA2569814 | CASR | c.2094C>T (p.Phe698=) c.2355C>T (p.Phe785=) c.2325C>T (p.Phe775=) c.1842C>T (p.Phe614=) c.1737C>T (p.Phe579=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122284280C>A | CA354159522 | CASR | c.2095C>A (p.Leu699Met) c.2356C>A (p.Leu786Met) c.2326C>A (p.Leu776Met) c.1843C>A (p.Leu615Met) c.1738C>A (p.Leu580Met) | |
| 3 | g.122284280C>G | CA354159524 | CASR | c.2095C>G (p.Leu699Val) c.2356C>G (p.Leu786Val) c.2326C>G (p.Leu776Val) c.1843C>G (p.Leu615Val) c.1738C>G (p.Leu580Val) | |
| 3 | g.122284280C>T | CA435424920 | CASR | c.2095C>T (p.Leu699=) c.2356C>T (p.Leu786=) c.2326C>T (p.Leu776=) c.1843C>T (p.Leu615=) c.1738C>T (p.Leu580=) | ClinVar |
| 3 | g.122284281T>A | CA354159527 | CASR | c.2096T>A (p.Leu699Gln) c.2357T>A (p.Leu786Gln) c.2327T>A (p.Leu776Gln) c.1844T>A (p.Leu615Gln) c.1739T>A (p.Leu580Gln) | |
| 3 | g.122284281T>C | CA354159528 | CASR | c.2096T>C (p.Leu699Pro) c.2357T>C (p.Leu786Pro) c.2327T>C (p.Leu776Pro) c.1844T>C (p.Leu615Pro) c.1739T>C (p.Leu580Pro) | |
| 3 | g.122284281T>G | CA354159530 | CASR | c.2096T>G (p.Leu699Arg) c.2357T>G (p.Leu786Arg) c.2327T>G (p.Leu776Arg) c.1844T>G (p.Leu615Arg) c.1739T>G (p.Leu580Arg) | |
| 3 | g.122284282G>A | CA2569815 | CASR | c.2097G>A (p.Leu699=) c.2358G>A (p.Leu786=) c.2328G>A (p.Leu776=) c.1845G>A (p.Leu615=) c.1740G>A (p.Leu580=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284282G>C | CA435424924 | CASR | c.2097G>C (p.Leu699=) c.2358G>C (p.Leu786=) c.2328G>C (p.Leu776=) c.1845G>C (p.Leu615=) c.1740G>C (p.Leu580=) | |
| 3 | g.122284282G= | CA1397872086 | CASR | c.2097G= (p.Leu699=) c.2358G= (p.Leu786=) c.2328G= (p.Leu776=) c.1845G= (p.Leu615=) c.1740G= (p.Leu580=) | |
| 3 | g.122284282G>T | CA435424925 | CASR | c.2097G>T (p.Leu699=) c.2358G>T (p.Leu786=) c.2328G>T (p.Leu776=) c.1845G>T (p.Leu615=) c.1740G>T (p.Leu580=) | gnomAD v4 |
| 3 | g.122284283A= | CA1397872091 | CASR | c.2098A= (p.Ile700=) c.2359A= (p.Ile787=) c.2329A= (p.Ile777=) c.1846A= (p.Ile616=) c.1741A= (p.Ile581=) | |
| 3 | g.122284283A>C | CA354159533 | CASR | c.2098A>C (p.Ile700Leu) c.2359A>C (p.Ile787Leu) c.2329A>C (p.Ile777Leu) c.1846A>C (p.Ile616Leu) c.1741A>C (p.Ile581Leu) | ClinVar dbSNP |
| 3 | g.122284283A>G | CA354159535 | CASR | c.2098A>G (p.Ile700Val) c.2359A>G (p.Ile787Val) c.2329A>G (p.Ile777Val) c.1846A>G (p.Ile616Val) c.1741A>G (p.Ile581Val) | |
| 3 | g.122284283A>T | CA354159537 | CASR | c.2098A>T (p.Ile700Phe) c.2359A>T (p.Ile787Phe) c.2329A>T (p.Ile777Phe) c.1846A>T (p.Ile616Phe) c.1741A>T (p.Ile581Phe) | |
| 3 | g.122284284T>A | CA354159540 | CASR | c.2099T>A (p.Ile700Asn) c.2360T>A (p.Ile787Asn) c.2330T>A (p.Ile777Asn) c.1847T>A (p.Ile616Asn) c.1742T>A (p.Ile581Asn) | |
| 3 | g.122284284T>C | CA354159542 | CASR | c.2099T>C (p.Ile700Thr) c.2360T>C (p.Ile787Thr) c.2330T>C (p.Ile777Thr) c.1847T>C (p.Ile616Thr) c.1742T>C (p.Ile581Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284284T>G | CA354159544 | CASR | c.2099T>G (p.Ile700Ser) c.2360T>G (p.Ile787Ser) c.2330T>G (p.Ile777Ser) c.1847T>G (p.Ile616Ser) c.1742T>G (p.Ile581Ser) | |
| 3 | g.122284284T= | CA1397872094 | CASR | c.2099T= (p.Ile700=) c.2360T= (p.Ile787=) c.2330T= (p.Ile777=) c.1847T= (p.Ile616=) c.1742T= (p.Ile581=) | |
| 3 | g.122284285C>A | CA435424930 | CASR | c.2100C>A (p.Ile700=) c.2361C>A (p.Ile787=) c.2331C>A (p.Ile777=) c.1848C>A (p.Ile616=) c.1743C>A (p.Ile581=) | |
| 3 | g.122284285C= | CA1397872100 | CASR | c.2100C= (p.Ile700=) c.2361C= (p.Ile787=) c.2331C= (p.Ile777=) c.1848C= (p.Ile616=) c.1743C= (p.Ile581=) | |
| 3 | g.122284285C>G | CA354159546 | CASR | c.2100C>G (p.Ile700Met) c.2361C>G (p.Ile787Met) c.2331C>G (p.Ile777Met) c.1848C>G (p.Ile616Met) c.1743C>G (p.Ile581Met) | |
| 3 | g.122284285C>T | CA2569816 | CASR | c.2100C>T (p.Ile700=) c.2361C>T (p.Ile787=) c.2331C>T (p.Ile777=) c.1848C>T (p.Ile616=) c.1743C>T (p.Ile581=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284285_122284286insAGC | CA2586972869 | CASR | c.2100_2101insAGC (p.Ile700_Gly701insSer) c.2361_2362insAGC (p.Ile787_Gly788insSer) c.2331_2332insAGC (p.Ile777_Gly778insSer) c.1848_1849insAGC (p.Ile616_Gly617insSer) c.1743_1744insAGC (p.Ile581_Gly582insSer) | |
| 3 | g.122284286G>A | CA354159548 | CASR | c.2101G>A (p.Gly701Ser) c.2362G>A (p.Gly788Ser) c.2332G>A (p.Gly778Ser) c.1849G>A (p.Gly617Ser) c.1744G>A (p.Gly582Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284286G>C | CA354159549 | CASR | c.2101G>C (p.Gly701Arg) c.2362G>C (p.Gly788Arg) c.2332G>C (p.Gly778Arg) c.1849G>C (p.Gly617Arg) c.1744G>C (p.Gly582Arg) | ClinVar dbSNP |
| 3 | g.122284286G= | CA1397872104 | CASR | c.2101G= (p.Gly701=) c.2362G= (p.Gly788=) c.2332G= (p.Gly778=) c.1849G= (p.Gly617=) c.1744G= (p.Gly582=) | |
| 3 | g.122284286G>T | CA354159550 | CASR | c.2101G>T (p.Gly701Cys) c.2362G>T (p.Gly788Cys) c.2332G>T (p.Gly778Cys) c.1849G>T (p.Gly617Cys) c.1744G>T (p.Gly582Cys) | ClinVar gnomAD v4 |
| 3 | g.122284287G>A | CA354159552 | CASR | c.2102G>A (p.Gly701Asp) c.2363G>A (p.Gly788Asp) c.2333G>A (p.Gly778Asp) c.1850G>A (p.Gly617Asp) c.1745G>A (p.Gly582Asp) | ClinVar dbSNP |
| 3 | g.122284287G>C | CA354159553 | CASR | c.2102G>C (p.Gly701Ala) c.2363G>C (p.Gly788Ala) c.2333G>C (p.Gly778Ala) c.1850G>C (p.Gly617Ala) c.1745G>C (p.Gly582Ala) | |
| 3 | g.122284287G= | CA1397872107 | CASR | c.2102G= (p.Gly701=) c.2363G= (p.Gly788=) c.2333G= (p.Gly778=) c.1850G= (p.Gly617=) c.1745G= (p.Gly582=) | |
| 3 | g.122284287G>T | CA354159555 | CASR | c.2102G>T (p.Gly701Val) c.2363G>T (p.Gly788Val) c.2333G>T (p.Gly778Val) c.1850G>T (p.Gly617Val) c.1745G>T (p.Gly582Val) | |
| 3 | g.122284288del | CA2586972870 | CASR | c.2103del (p.Tyr702ThrfsTer?) c.2364del (p.Tyr789ThrfsTer?) c.2334del (p.Tyr779ThrfsTer?) c.1851del (p.Tyr618ThrfsTer?) c.1746del (p.Tyr583ThrfsTer?) | |
| 3 | g.122284288C>A | CA435424935 | CASR | c.2103C>A (p.Gly701=) c.2364C>A (p.Gly788=) c.2334C>A (p.Gly778=) c.1851C>A (p.Gly617=) c.1746C>A (p.Gly582=) | |
| 3 | g.122284288C= | CA1397872110 | CASR | c.2103C= (p.Gly701=) c.2364C= (p.Gly788=) c.2334C= (p.Gly778=) c.1851C= (p.Gly617=) c.1746C= (p.Gly582=) | |
| 3 | g.122284288C>G | CA435424936 | CASR | c.2103C>G (p.Gly701=) c.2364C>G (p.Gly788=) c.2334C>G (p.Gly778=) c.1851C>G (p.Gly617=) c.1746C>G (p.Gly582=) | |
| 3 | g.122284288C>T | CA435424937 | CASR | c.2103C>T (p.Gly701=) c.2364C>T (p.Gly788=) c.2334C>T (p.Gly778=) c.1851C>T (p.Gly617=) c.1746C>T (p.Gly582=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284289T>A | CA354159561 | CASR | c.2104T>A (p.Tyr702Asn) c.2365T>A (p.Tyr789Asn) c.2335T>A (p.Tyr779Asn) c.1852T>A (p.Tyr618Asn) c.1747T>A (p.Tyr583Asn) | |
| 3 | g.122284289T>C | CA2569817 | CASR | c.2104T>C (p.Tyr702His) c.2365T>C (p.Tyr789His) c.2335T>C (p.Tyr779His) c.1852T>C (p.Tyr618His) c.1747T>C (p.Tyr583His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284289T>G | CA354159558 | CASR | c.2104T>G (p.Tyr702Asp) c.2365T>G (p.Tyr789Asp) c.2335T>G (p.Tyr779Asp) c.1852T>G (p.Tyr618Asp) c.1747T>G (p.Tyr583Asp) | |
| 3 | g.122284289T= | CA1397872113 | CASR | c.2104T= (p.Tyr702=) c.2365T= (p.Tyr789=) c.2335T= (p.Tyr779=) c.1852T= (p.Tyr618=) c.1747T= (p.Tyr583=) | |
| 3 | g.122284290A= | CA1397872116 | CASR | c.2105A= (p.Tyr702=) c.2366A= (p.Tyr789=) c.2336A= (p.Tyr779=) c.1853A= (p.Tyr618=) c.1748A= (p.Tyr583=) | |
| 3 | g.122284290A>C | CA354159562 | CASR | c.2105A>C (p.Tyr702Ser) c.2366A>C (p.Tyr789Ser) c.2336A>C (p.Tyr779Ser) c.1853A>C (p.Tyr618Ser) c.1748A>C (p.Tyr583Ser) | dbSNP |
| 3 | g.122284290A>G | CA354159563 | CASR | c.2105A>G (p.Tyr702Cys) c.2366A>G (p.Tyr789Cys) c.2336A>G (p.Tyr779Cys) c.1853A>G (p.Tyr618Cys) c.1748A>G (p.Tyr583Cys) | |
| 3 | g.122284290A>T | CA354159565 | CASR | c.2105A>T (p.Tyr702Phe) c.2366A>T (p.Tyr789Phe) c.2336A>T (p.Tyr779Phe) c.1853A>T (p.Tyr618Phe) c.1748A>T (p.Tyr583Phe) | |
| 3 | g.122284291C>A | CA354159568 | CASR | c.2106C>A (p.Tyr702Ter) c.2367C>A (p.Tyr789Ter) c.2337C>A (p.Tyr779Ter) c.1854C>A (p.Tyr618Ter) c.1749C>A (p.Tyr583Ter) | gnomAD v4 |
| 3 | g.122284291C= | CA1397872118 | CASR | c.2106C= (p.Tyr702=) c.2367C= (p.Tyr789=) c.2337C= (p.Tyr779=) c.1854C= (p.Tyr618=) c.1749C= (p.Tyr583=) | |
| 3 | g.122284291C>G | CA354159571 | CASR | c.2106C>G (p.Tyr702Ter) c.2367C>G (p.Tyr789Ter) c.2337C>G (p.Tyr779Ter) c.1854C>G (p.Tyr618Ter) c.1749C>G (p.Tyr583Ter) | |
| 3 | g.122284291C>T | CA435424942 | CASR | c.2106C>T (p.Tyr702=) c.2367C>T (p.Tyr789=) c.2337C>T (p.Tyr779=) c.1854C>T (p.Tyr618=) c.1749C>T (p.Tyr583=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284292A= | CA1397872119 | CASR | c.2107A= (p.Thr703=) c.2368A= (p.Thr790=) c.2338A= (p.Thr780=) c.1855A= (p.Thr619=) c.1750A= (p.Thr584=) | |
| 3 | g.122284292A>C | CA354159577 | CASR | c.2107A>C (p.Thr703Pro) c.2368A>C (p.Thr790Pro) c.2338A>C (p.Thr780Pro) c.1855A>C (p.Thr619Pro) c.1750A>C (p.Thr584Pro) | dbSNP |
| 3 | g.122284292A>G | CA354159573 | CASR | c.2107A>G (p.Thr703Ala) c.2368A>G (p.Thr790Ala) c.2338A>G (p.Thr780Ala) c.1855A>G (p.Thr619Ala) c.1750A>G (p.Thr584Ala) | COSMIC |
| 3 | g.122284292A>T | CA354159575 | CASR | c.2107A>T (p.Thr703Ser) c.2368A>T (p.Thr790Ser) c.2338A>T (p.Thr780Ser) c.1855A>T (p.Thr619Ser) c.1750A>T (p.Thr584Ser) | |
| 3 | g.122284293C>A | CA354159579 | CASR | c.2108C>A (p.Thr703Asn) c.2369C>A (p.Thr790Asn) c.2339C>A (p.Thr780Asn) c.1856C>A (p.Thr619Asn) c.1751C>A (p.Thr584Asn) | ClinVar dbSNP |
| 3 | g.122284293C= | CA1397872131 | CASR | c.2108C= (p.Thr703=) c.2369C= (p.Thr790=) c.2339C= (p.Thr780=) c.1856C= (p.Thr619=) c.1751C= (p.Thr584=) | |
| 3 | g.122284293C>G | CA354159581 | CASR | c.2108C>G (p.Thr703Ser) c.2369C>G (p.Thr790Ser) c.2339C>G (p.Thr780Ser) c.1856C>G (p.Thr619Ser) c.1751C>G (p.Thr584Ser) | ClinVar dbSNP |
| 3 | g.122284293C>T | CA2569818 | CASR | c.2108C>T (p.Thr703Ile) c.2369C>T (p.Thr790Ile) c.2339C>T (p.Thr780Ile) c.1856C>T (p.Thr619Ile) c.1751C>T (p.Thr584Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284294C>A | CA435425078 | CASR | c.2109C>A (p.Thr703=) c.2370C>A (p.Thr790=) c.2340C>A (p.Thr780=) c.1857C>A (p.Thr619=) c.1752C>A (p.Thr584=) | COSMIC |
| 3 | g.122284294C>G | CA435425080 | CASR | c.2109C>G (p.Thr703=) c.2370C>G (p.Thr790=) c.2340C>G (p.Thr780=) c.1857C>G (p.Thr619=) c.1752C>G (p.Thr584=) | |
| 3 | g.122284294C>T | CA435425082 | CASR | c.2109C>T (p.Thr703=) c.2370C>T (p.Thr790=) c.2340C>T (p.Thr780=) c.1857C>T (p.Thr619=) c.1752C>T (p.Thr584=) | gnomAD v4 |
| 3 | g.122284295T>A | CA354159585 | CASR | c.2110T>A (p.Cys704Ser) c.2371T>A (p.Cys791Ser) c.2341T>A (p.Cys781Ser) c.1858T>A (p.Cys620Ser) c.1753T>A (p.Cys585Ser) | ClinVar dbSNP |
| 3 | g.122284295T>C | CA354159586 | CASR | c.2110T>C (p.Cys704Arg) c.2371T>C (p.Cys791Arg) c.2341T>C (p.Cys781Arg) c.1858T>C (p.Cys620Arg) c.1753T>C (p.Cys585Arg) | |
| 3 | g.122284295T>G | CA354159587 | CASR | c.2110T>G (p.Cys704Gly) c.2371T>G (p.Cys791Gly) c.2341T>G (p.Cys781Gly) c.1858T>G (p.Cys620Gly) c.1753T>G (p.Cys585Gly) | ClinVar |
| 3 | g.122284296G>A | CA354159588 | CASR | c.2111G>A (p.Cys704Tyr) c.2372G>A (p.Cys791Tyr) c.2342G>A (p.Cys781Tyr) c.1859G>A (p.Cys620Tyr) c.1754G>A (p.Cys585Tyr) | |
| 3 | g.122284296G>C | CA354159589 | CASR | c.2111G>C (p.Cys704Ser) c.2372G>C (p.Cys791Ser) c.2342G>C (p.Cys781Ser) c.1859G>C (p.Cys620Ser) c.1754G>C (p.Cys585Ser) | |
| 3 | g.122284296G>T | CA354159590 | CASR | c.2111G>T (p.Cys704Phe) c.2372G>T (p.Cys791Phe) c.2342G>T (p.Cys781Phe) c.1859G>T (p.Cys620Phe) c.1754G>T (p.Cys585Phe) | |
| 3 | g.122284297C>A | CA354159591 | CASR | c.2112C>A (p.Cys704Ter) c.2373C>A (p.Cys791Ter) c.2343C>A (p.Cys781Ter) c.1860C>A (p.Cys620Ter) c.1755C>A (p.Cys585Ter) | |
| 3 | g.122284297C= | CA1397872140 | CASR | c.2112C= (p.Cys704=) c.2373C= (p.Cys791=) c.2343C= (p.Cys781=) c.1860C= (p.Cys620=) c.1755C= (p.Cys585=) | |
| 3 | g.122284297C>G | CA354159592 | CASR | c.2112C>G (p.Cys704Trp) c.2373C>G (p.Cys791Trp) c.2343C>G (p.Cys781Trp) c.1860C>G (p.Cys620Trp) c.1755C>G (p.Cys585Trp) | |
| 3 | g.122284297C>T | CA435425088 | CASR | c.2112C>T (p.Cys704=) c.2373C>T (p.Cys791=) c.2343C>T (p.Cys781=) c.1860C>T (p.Cys620=) c.1755C>T (p.Cys585=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284298C>A | CA354159593 | CASR | c.2113C>A (p.Leu705Met) c.2374C>A (p.Leu792Met) c.2344C>A (p.Leu782Met) c.1861C>A (p.Leu621Met) c.1756C>A (p.Leu586Met) | dbSNP gnomAD v4 |
| 3 | g.122284298C= | CA1397872147 | CASR | c.2113C= (p.Leu705=) c.2374C= (p.Leu792=) c.2344C= (p.Leu782=) c.1861C= (p.Leu621=) c.1756C= (p.Leu586=) | |
| 3 | g.122284298C>G | CA354159594 | CASR | c.2113C>G (p.Leu705Val) c.2374C>G (p.Leu792Val) c.2344C>G (p.Leu782Val) c.1861C>G (p.Leu621Val) c.1756C>G (p.Leu586Val) | |
| 3 | g.122284298C>T | CA435425090 | CASR | c.2113C>T (p.Leu705=) c.2374C>T (p.Leu792=) c.2344C>T (p.Leu782=) c.1861C>T (p.Leu621=) c.1756C>T (p.Leu586=) | |
| 3 | g.122284299T>A | CA354159595 | CASR | c.2114T>A (p.Leu705Gln) c.2375T>A (p.Leu792Gln) c.2345T>A (p.Leu782Gln) c.1862T>A (p.Leu621Gln) c.1757T>A (p.Leu586Gln) | |
| 3 | g.122284299T>C | CA354159597 | CASR | c.2114T>C (p.Leu705Pro) c.2375T>C (p.Leu792Pro) c.2345T>C (p.Leu782Pro) c.1862T>C (p.Leu621Pro) c.1757T>C (p.Leu586Pro) | |
| 3 | g.122284299T>G | CA354159596 | CASR | c.2114T>G (p.Leu705Arg) c.2375T>G (p.Leu792Arg) c.2345T>G (p.Leu782Arg) c.1862T>G (p.Leu621Arg) c.1757T>G (p.Leu586Arg) | |
| 3 | g.122284300G>A | CA435425094 | CASR | c.2115G>A (p.Leu705=) c.2376G>A (p.Leu792=) c.2346G>A (p.Leu782=) c.1863G>A (p.Leu621=) c.1758G>A (p.Leu586=) | COSMIC |
| 3 | g.122284300G>C | CA435425097 | CASR | c.2115G>C (p.Leu705=) c.2376G>C (p.Leu792=) c.2346G>C (p.Leu782=) c.1863G>C (p.Leu621=) c.1758G>C (p.Leu586=) | ClinVar |
| 3 | g.122284300G>T | CA435425096 | CASR | c.2115G>T (p.Leu705=) c.2376G>T (p.Leu792=) c.2346G>T (p.Leu782=) c.1863G>T (p.Leu621=) c.1758G>T (p.Leu586=) | |
| 3 | g.122284301C>A | CA354159598 | CASR | c.2116C>A (p.Leu706Met) c.2377C>A (p.Leu793Met) c.2347C>A (p.Leu783Met) c.1864C>A (p.Leu622Met) c.1759C>A (p.Leu587Met) | |
| 3 | g.122284301C>G | CA354159599 | CASR | c.2116C>G (p.Leu706Val) c.2377C>G (p.Leu793Val) c.2347C>G (p.Leu783Val) c.1864C>G (p.Leu622Val) c.1759C>G (p.Leu587Val) | |
| 3 | g.122284301C>T | CA435425098 | CASR | c.2116C>T (p.Leu706=) c.2377C>T (p.Leu793=) c.2347C>T (p.Leu783=) c.1864C>T (p.Leu622=) c.1759C>T (p.Leu587=) | ClinVar |
| 3 | g.122284302T>A | CA354159600 | CASR | c.2117T>A (p.Leu706Gln) c.2378T>A (p.Leu793Gln) c.2348T>A (p.Leu783Gln) c.1865T>A (p.Leu622Gln) c.1760T>A (p.Leu587Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284302T>C | CA354159601 | CASR | c.2117T>C (p.Leu706Pro) c.2378T>C (p.Leu793Pro) c.2348T>C (p.Leu783Pro) c.1865T>C (p.Leu622Pro) c.1760T>C (p.Leu587Pro) | |
| 3 | g.122284302T>G | CA354159602 | CASR | c.2117T>G (p.Leu706Arg) c.2378T>G (p.Leu793Arg) c.2348T>G (p.Leu783Arg) c.1865T>G (p.Leu622Arg) c.1760T>G (p.Leu587Arg) | |
| 3 | g.122284302T= | CA1397872151 | CASR | c.2117T= (p.Leu706=) c.2378T= (p.Leu793=) c.2348T= (p.Leu783=) c.1865T= (p.Leu622=) c.1760T= (p.Leu587=) | |
| 3 | g.122284303G>A | CA435425099 | CASR | c.2118G>A (p.Leu706=) c.2379G>A (p.Leu793=) c.2349G>A (p.Leu783=) c.1866G>A (p.Leu622=) c.1761G>A (p.Leu587=) | ClinVar dbSNP |
| 3 | g.122284303G>C | CA435425101 | CASR | c.2118G>C (p.Leu706=) c.2379G>C (p.Leu793=) c.2349G>C (p.Leu783=) c.1866G>C (p.Leu622=) c.1761G>C (p.Leu587=) | |
| 3 | g.122284303G= | CA1397872156 | CASR | c.2118G= (p.Leu706=) c.2379G= (p.Leu793=) c.2349G= (p.Leu783=) c.1866G= (p.Leu622=) c.1761G= (p.Leu587=) | |
| 3 | g.122284303G>T | CA435425102 | CASR | c.2118G>T (p.Leu706=) c.2379G>T (p.Leu793=) c.2349G>T (p.Leu783=) c.1866G>T (p.Leu622=) c.1761G>T (p.Leu587=) | |
| 3 | g.122284304G>A | CA354159605 | CASR | c.2119G>A (p.Ala707Thr) c.2380G>A (p.Ala794Thr) c.2350G>A (p.Ala784Thr) c.1867G>A (p.Ala623Thr) c.1762G>A (p.Ala588Thr) | gnomAD v4 |
| 3 | g.122284304G>C | CA354159604 | CASR | c.2119G>C (p.Ala707Pro) c.2380G>C (p.Ala794Pro) c.2350G>C (p.Ala784Pro) c.1867G>C (p.Ala623Pro) c.1762G>C (p.Ala588Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284304G= | CA1397872158 | CASR | c.2119G= (p.Ala707=) c.2380G= (p.Ala794=) c.2350G= (p.Ala784=) c.1867G= (p.Ala623=) c.1762G= (p.Ala588=) | |
| 3 | g.122284304G>T | CA354159603 | CASR | c.2119G>T (p.Ala707Ser) c.2380G>T (p.Ala794Ser) c.2350G>T (p.Ala784Ser) c.1867G>T (p.Ala623Ser) c.1762G>T (p.Ala588Ser) | COSMIC |
| 3 | g.122284305C>A | CA354159606 | CASR | c.2120C>A (p.Ala707Asp) c.2381C>A (p.Ala794Asp) c.2351C>A (p.Ala784Asp) c.1868C>A (p.Ala623Asp) c.1763C>A (p.Ala588Asp) | |
| 3 | g.122284305C>G | CA354159607 | CASR | c.2120C>G (p.Ala707Gly) c.2381C>G (p.Ala794Gly) c.2351C>G (p.Ala784Gly) c.1868C>G (p.Ala623Gly) c.1763C>G (p.Ala588Gly) | |
| 3 | g.122284305C>T | CA354159608 | CASR | c.2120C>T (p.Ala707Val) c.2381C>T (p.Ala794Val) c.2351C>T (p.Ala784Val) c.1868C>T (p.Ala623Val) c.1763C>T (p.Ala588Val) | |
| 3 | g.122284306T>A | CA435425104 | CASR | c.2121T>A (p.Ala707=) c.2382T>A (p.Ala794=) c.2352T>A (p.Ala784=) c.1869T>A (p.Ala623=) c.1764T>A (p.Ala588=) | dbSNP |
| 3 | g.122284306T>C | CA435425105 | CASR | c.2121T>C (p.Ala707=) c.2382T>C (p.Ala794=) c.2352T>C (p.Ala784=) c.1869T>C (p.Ala623=) c.1764T>C (p.Ala588=) | |
| 3 | g.122284306T>G | CA435425107 | CASR | c.2121T>G (p.Ala707=) c.2382T>G (p.Ala794=) c.2352T>G (p.Ala784=) c.1869T>G (p.Ala623=) c.1764T>G (p.Ala588=) | ClinVar |
| 3 | g.122284307G>A | CA354159609 | CASR | c.2122G>A (p.Ala708Thr) c.2383G>A (p.Ala795Thr) c.2353G>A (p.Ala785Thr) c.1870G>A (p.Ala624Thr) c.1765G>A (p.Ala589Thr) | |
| 3 | g.122284307G>C | CA354159610 | CASR | c.2122G>C (p.Ala708Pro) c.2383G>C (p.Ala795Pro) c.2353G>C (p.Ala785Pro) c.1870G>C (p.Ala624Pro) c.1765G>C (p.Ala589Pro) | |
| 3 | g.122284307G>T | CA354159611 | CASR | c.2122G>T (p.Ala708Ser) c.2383G>T (p.Ala795Ser) c.2353G>T (p.Ala785Ser) c.1870G>T (p.Ala624Ser) c.1765G>T (p.Ala589Ser) | |
| 3 | g.122284308C>A | CA354159612 | CASR | c.2123C>A (p.Ala708Asp) c.2384C>A (p.Ala795Asp) c.2354C>A (p.Ala785Asp) c.1871C>A (p.Ala624Asp) c.1766C>A (p.Ala589Asp) | |
| 3 | g.122284308C>G | CA354159614 | CASR | c.2123C>G (p.Ala708Gly) c.2384C>G (p.Ala795Gly) c.2354C>G (p.Ala785Gly) c.1871C>G (p.Ala624Gly) c.1766C>G (p.Ala589Gly) | |
| 3 | g.122284308C>T | CA354159613 | CASR | c.2123C>T (p.Ala708Val) c.2384C>T (p.Ala795Val) c.2354C>T (p.Ala785Val) c.1871C>T (p.Ala624Val) c.1766C>T (p.Ala589Val) | |
| 3 | g.122284309C>A | CA435425111 | CASR | c.2124C>A (p.Ala708=) c.2385C>A (p.Ala795=) c.2355C>A (p.Ala785=) c.1872C>A (p.Ala624=) c.1767C>A (p.Ala589=) | |
| 3 | g.122284309C= | CA1397872160 | CASR | c.2124C= (p.Ala708=) c.2385C= (p.Ala795=) c.2355C= (p.Ala785=) c.1872C= (p.Ala624=) c.1767C= (p.Ala589=) | |
| 3 | g.122284309C>G | CA435425112 | CASR | c.2124C>G (p.Ala708=) c.2385C>G (p.Ala795=) c.2355C>G (p.Ala785=) c.1872C>G (p.Ala624=) c.1767C>G (p.Ala589=) | |
| 3 | g.122284309C>T | CA435425113 | CASR | c.2124C>T (p.Ala708=) c.2385C>T (p.Ala795=) c.2355C>T (p.Ala785=) c.1872C>T (p.Ala624=) c.1767C>T (p.Ala589=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284310A= | CA1397872165 | CASR | c.2125A= (p.Ile709=) c.2386A= (p.Ile796=) c.2356A= (p.Ile786=) c.1873A= (p.Ile625=) c.1768A= (p.Ile590=) | |
| 3 | g.122284310A>C | CA354159615 | CASR | c.2125A>C (p.Ile709Leu) c.2386A>C (p.Ile796Leu) c.2356A>C (p.Ile786Leu) c.1873A>C (p.Ile625Leu) c.1768A>C (p.Ile590Leu) | |
| 3 | g.122284310A>G | CA2569819 | CASR | c.2125A>G (p.Ile709Val) c.2386A>G (p.Ile796Val) c.2356A>G (p.Ile786Val) c.1873A>G (p.Ile625Val) c.1768A>G (p.Ile590Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284310A>T | CA354159616 | CASR | c.2125A>T (p.Ile709Phe) c.2386A>T (p.Ile796Phe) c.2356A>T (p.Ile786Phe) c.1873A>T (p.Ile625Phe) c.1768A>T (p.Ile590Phe) | |
| 3 | g.122284311T>A | CA354159617 | CASR | c.2126T>A (p.Ile709Asn) c.2387T>A (p.Ile796Asn) c.2357T>A (p.Ile786Asn) c.1874T>A (p.Ile625Asn) c.1769T>A (p.Ile590Asn) | |
| 3 | g.122284311T>C | CA354159618 | CASR | c.2126T>C (p.Ile709Thr) c.2387T>C (p.Ile796Thr) c.2357T>C (p.Ile786Thr) c.1874T>C (p.Ile625Thr) c.1769T>C (p.Ile590Thr) | gnomAD v4 |
| 3 | g.122284311T>G | CA354159619 | CASR | c.2126T>G (p.Ile709Ser) c.2387T>G (p.Ile796Ser) c.2357T>G (p.Ile786Ser) c.1874T>G (p.Ile625Ser) c.1769T>G (p.Ile590Ser) | |
| 3 | g.122284312C>A | CA435425115 | CASR | c.2127C>A (p.Ile709=) c.2388C>A (p.Ile796=) c.2358C>A (p.Ile786=) c.1875C>A (p.Ile625=) c.1770C>A (p.Ile590=) | COSMIC |
| 3 | g.122284312C>G | CA354159620 | CASR | c.2127C>G (p.Ile709Met) c.2388C>G (p.Ile796Met) c.2358C>G (p.Ile786Met) c.1875C>G (p.Ile625Met) c.1770C>G (p.Ile590Met) | COSMIC |
| 3 | g.122284312C>T | CA435425117 | CASR | c.2127C>T (p.Ile709=) c.2388C>T (p.Ile796=) c.2358C>T (p.Ile786=) c.1875C>T (p.Ile625=) c.1770C>T (p.Ile590=) | ClinVar dbSNP |
| 3 | g.122284313T>A | CA354159621 | CASR | c.2128T>A (p.Cys710Ser) c.2389T>A (p.Cys797Ser) c.2359T>A (p.Cys787Ser) c.1876T>A (p.Cys626Ser) c.1771T>A (p.Cys591Ser) | |
| 3 | g.122284313T>C | CA354159622 | CASR | c.2128T>C (p.Cys710Arg) c.2389T>C (p.Cys797Arg) c.2359T>C (p.Cys787Arg) c.1876T>C (p.Cys626Arg) c.1771T>C (p.Cys591Arg) | |
| 3 | g.122284313T>G | CA354159623 | CASR | c.2128T>G (p.Cys710Gly) c.2389T>G (p.Cys797Gly) c.2359T>G (p.Cys787Gly) c.1876T>G (p.Cys626Gly) c.1771T>G (p.Cys591Gly) | |
| 3 | g.122284314G>A | CA354159624 | CASR | c.2129G>A (p.Cys710Tyr) c.2390G>A (p.Cys797Tyr) c.2360G>A (p.Cys787Tyr) c.1877G>A (p.Cys626Tyr) c.1772G>A (p.Cys591Tyr) | ClinVar |
| 3 | g.122284314G>C | CA354159626 | CASR | c.2129G>C (p.Cys710Ser) c.2390G>C (p.Cys797Ser) c.2360G>C (p.Cys787Ser) c.1877G>C (p.Cys626Ser) c.1772G>C (p.Cys591Ser) | |
| 3 | g.122284314G>T | CA354159625 | CASR | c.2129G>T (p.Cys710Phe) c.2390G>T (p.Cys797Phe) c.2360G>T (p.Cys787Phe) c.1877G>T (p.Cys626Phe) c.1772G>T (p.Cys591Phe) | |
| 3 | g.122284315C>A | CA354159627 | CASR | c.2130C>A (p.Cys710Ter) c.2391C>A (p.Cys797Ter) c.2361C>A (p.Cys787Ter) c.1878C>A (p.Cys626Ter) c.1773C>A (p.Cys591Ter) | |
| 3 | g.122284315C= | CA1397872169 | CASR | c.2130C= (p.Cys710=) c.2391C= (p.Cys797=) c.2361C= (p.Cys787=) c.1878C= (p.Cys626=) c.1773C= (p.Cys591=) | |
| 3 | g.122284315C>G | CA354159628 | CASR | c.2130C>G (p.Cys710Trp) c.2391C>G (p.Cys797Trp) c.2361C>G (p.Cys787Trp) c.1878C>G (p.Cys626Trp) c.1773C>G (p.Cys591Trp) | |
| 3 | g.122284315C>T | CA435425124 | CASR | c.2130C>T (p.Cys710=) c.2391C>T (p.Cys797=) c.2361C>T (p.Cys787=) c.1878C>T (p.Cys626=) c.1773C>T (p.Cys591=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284321_122284323del | CA2508817364 | CASR | c.2136_2138del (p.Phe713del) c.2397_2399del (p.Phe800del) c.2367_2369del (p.Phe790del) c.1884_1886del (p.Phe629del) c.1779_1781del (p.Phe594del) | |
| 3 | g.122284316T>A | CA354159629 | CASR | c.2131T>A (p.Phe711Ile) c.2392T>A (p.Phe798Ile) c.2362T>A (p.Phe788Ile) c.1879T>A (p.Phe627Ile) c.1774T>A (p.Phe592Ile) | |
| 3 | g.122284316T>C | CA119529 | CASR | c.2131T>C (p.Phe711Leu) c.2392T>C (p.Phe798Leu) c.2362T>C (p.Phe788Leu) c.1879T>C (p.Phe627Leu) c.1774T>C (p.Phe592Leu) | ClinVar dbSNP |
| 3 | g.122284316T>G | CA354159630 | CASR | c.2131T>G (p.Phe711Val) c.2392T>G (p.Phe798Val) c.2362T>G (p.Phe788Val) c.1879T>G (p.Phe627Val) c.1774T>G (p.Phe592Val) | |
| 3 | g.122284316T= | CA1397872174 | CASR | c.2131T= (p.Phe711=) c.2392T= (p.Phe798=) c.2362T= (p.Phe788=) c.1879T= (p.Phe627=) c.1774T= (p.Phe592=) | |
| 3 | g.122284317T>A | CA354159631 | CASR | c.2132T>A (p.Phe711Tyr) c.2393T>A (p.Phe798Tyr) c.2363T>A (p.Phe788Tyr) c.1880T>A (p.Phe627Tyr) c.1775T>A (p.Phe592Tyr) | COSMIC |
| 3 | g.122284317T>C | CA354159632 | CASR | c.2132T>C (p.Phe711Ser) c.2393T>C (p.Phe798Ser) c.2363T>C (p.Phe788Ser) c.1880T>C (p.Phe627Ser) c.1775T>C (p.Phe592Ser) | ClinVar dbSNP |
| 3 | g.122284317T>G | CA119509 | CASR | c.2132T>G (p.Phe711Cys) c.2393T>G (p.Phe798Cys) c.2363T>G (p.Phe788Cys) c.1880T>G (p.Phe627Cys) c.1775T>G (p.Phe592Cys) | ClinVar dbSNP |
| 3 | g.122284317T= | CA1397872183 | CASR | c.2132T= (p.Phe711=) c.2393T= (p.Phe798=) c.2363T= (p.Phe788=) c.1880T= (p.Phe627=) c.1775T= (p.Phe592=) | |
| 3 | g.122284318del | CA2580618220 | CASR | c.2133del (p.Phe712SerfsTer?) c.2394del (p.Phe799SerfsTer?) c.2364del (p.Phe789SerfsTer?) c.1881del (p.Phe628SerfsTer?) c.1776del (p.Phe593SerfsTer?) | |
| 3 | g.122284318C>A | CA354159633 | CASR | c.2133C>A (p.Phe711Leu) c.2394C>A (p.Phe798Leu) c.2364C>A (p.Phe788Leu) c.1881C>A (p.Phe627Leu) c.1776C>A (p.Phe592Leu) | |
| 3 | g.122284318C= | CA1397872186 | CASR | c.2133C= (p.Phe711=) c.2394C= (p.Phe798=) c.2364C= (p.Phe788=) c.1881C= (p.Phe627=) c.1776C= (p.Phe592=) | |
| 3 | g.122284318C>G | CA10602865 | CASR | c.2133C>G (p.Phe711Leu) c.2394C>G (p.Phe798Leu) c.2364C>G (p.Phe788Leu) c.1881C>G (p.Phe627Leu) c.1776C>G (p.Phe592Leu) | ClinVar dbSNP |
| 3 | g.122284318C>T | CA435425128 | CASR | c.2133C>T (p.Phe711=) c.2394C>T (p.Phe798=) c.2364C>T (p.Phe788=) c.1881C>T (p.Phe627=) c.1776C>T (p.Phe592=) | |
| 3 | g.122284319T>A | CA354159634 | CASR | c.2134T>A (p.Phe712Ile) c.2395T>A (p.Phe799Ile) c.2365T>A (p.Phe789Ile) c.1882T>A (p.Phe628Ile) c.1777T>A (p.Phe593Ile) | |
| 3 | g.122284319T>C | CA354159635 | CASR | c.2134T>C (p.Phe712Leu) c.2395T>C (p.Phe799Leu) c.2365T>C (p.Phe789Leu) c.1882T>C (p.Phe628Leu) c.1777T>C (p.Phe593Leu) | |
| 3 | g.122284319T>G | CA354159636 | CASR | c.2134T>G (p.Phe712Val) c.2395T>G (p.Phe799Val) c.2365T>G (p.Phe789Val) c.1882T>G (p.Phe628Val) c.1777T>G (p.Phe593Val) | |
| 3 | g.122284320T>A | CA354159637 | CASR | c.2135T>A (p.Phe712Tyr) c.2396T>A (p.Phe799Tyr) c.2366T>A (p.Phe789Tyr) c.1883T>A (p.Phe628Tyr) c.1778T>A (p.Phe593Tyr) | |
| 3 | g.122284320T>C | CA354159638 | CASR | c.2135T>C (p.Phe712Ser) c.2396T>C (p.Phe799Ser) c.2366T>C (p.Phe789Ser) c.1883T>C (p.Phe628Ser) c.1778T>C (p.Phe593Ser) | ClinVar gnomAD v4 |
| 3 | g.122284320T>G | CA354159639 | CASR | c.2135T>G (p.Phe712Cys) c.2396T>G (p.Phe799Cys) c.2366T>G (p.Phe789Cys) c.1883T>G (p.Phe628Cys) c.1778T>G (p.Phe593Cys) | |
| 3 | g.122284321C>A | CA354159641 | CASR | c.2136C>A (p.Phe712Leu) c.2397C>A (p.Phe799Leu) c.2367C>A (p.Phe789Leu) c.1884C>A (p.Phe628Leu) c.1779C>A (p.Phe593Leu) | |
| 3 | g.122284321C>G | CA354159640 | CASR | c.2136C>G (p.Phe712Leu) c.2397C>G (p.Phe799Leu) c.2367C>G (p.Phe789Leu) c.1884C>G (p.Phe628Leu) c.1779C>G (p.Phe593Leu) | gnomAD v4 |
| 3 | g.122284321C>T | CA435425134 | CASR | c.2136C>T (p.Phe712=) c.2397C>T (p.Phe799=) c.2367C>T (p.Phe789=) c.1884C>T (p.Phe628=) c.1779C>T (p.Phe593=) | |
| 3 | g.122284322T>A | CA354159642 | CASR | c.2137T>A (p.Phe713Ile) c.2398T>A (p.Phe800Ile) c.2368T>A (p.Phe790Ile) c.1885T>A (p.Phe629Ile) c.1780T>A (p.Phe594Ile) | |
| 3 | g.122284322T>C | CA354159643 | CASR | c.2137T>C (p.Phe713Leu) c.2398T>C (p.Phe800Leu) c.2368T>C (p.Phe790Leu) c.1885T>C (p.Phe629Leu) c.1780T>C (p.Phe594Leu) | ClinVar |
| 3 | g.122284322T>G | CA354159644 | CASR | c.2137T>G (p.Phe713Val) c.2398T>G (p.Phe800Val) c.2368T>G (p.Phe790Val) c.1885T>G (p.Phe629Val) c.1780T>G (p.Phe594Val) | |
| 3 | g.122284323T>A | CA354159645 | CASR | c.2138T>A (p.Phe713Tyr) c.2399T>A (p.Phe800Tyr) c.2369T>A (p.Phe790Tyr) c.1886T>A (p.Phe629Tyr) c.1781T>A (p.Phe594Tyr) | |
| 3 | g.122284323T>C | CA354159646 | CASR | c.2138T>C (p.Phe713Ser) c.2399T>C (p.Phe800Ser) c.2369T>C (p.Phe790Ser) c.1886T>C (p.Phe629Ser) c.1781T>C (p.Phe594Ser) | |
| 3 | g.122284323T>G | CA354159647 | CASR | c.2138T>G (p.Phe713Cys) c.2399T>G (p.Phe800Cys) c.2369T>G (p.Phe790Cys) c.1886T>G (p.Phe629Cys) c.1781T>G (p.Phe594Cys) | ClinVar |
| 3 | g.122284324T>A | CA354159648 | CASR | c.2139T>A (p.Phe713Leu) c.2400T>A (p.Phe800Leu) c.2370T>A (p.Phe790Leu) c.1887T>A (p.Phe629Leu) c.1782T>A (p.Phe594Leu) | |
| 3 | g.122284324T>C | CA435425141 | CASR | c.2139T>C (p.Phe713=) c.2400T>C (p.Phe800=) c.2370T>C (p.Phe790=) c.1887T>C (p.Phe629=) c.1782T>C (p.Phe594=) | ClinVar |
| 3 | g.122284324T>G | CA354159649 | CASR | c.2139T>G (p.Phe713Leu) c.2400T>G (p.Phe800Leu) c.2370T>G (p.Phe790Leu) c.1887T>G (p.Phe629Leu) c.1782T>G (p.Phe594Leu) | ClinVar |
| 3 | g.122284325G>A | CA354159650 | CASR | c.2140G>A (p.Ala714Thr) c.2401G>A (p.Ala801Thr) c.2371G>A (p.Ala791Thr) c.1888G>A (p.Ala630Thr) c.1783G>A (p.Ala595Thr) | ClinVar dbSNP |
| 3 | g.122284325G>C | CA354159651 | CASR | c.2140G>C (p.Ala714Pro) c.2401G>C (p.Ala801Pro) c.2371G>C (p.Ala791Pro) c.1888G>C (p.Ala630Pro) c.1783G>C (p.Ala595Pro) | |
| 3 | g.122284325G>T | CA354159652 | CASR | c.2140G>T (p.Ala714Ser) c.2401G>T (p.Ala801Ser) c.2371G>T (p.Ala791Ser) c.1888G>T (p.Ala630Ser) c.1783G>T (p.Ala595Ser) | gnomAD v4 |
| 3 | g.122284326C>A | CA354159655 | CASR | c.2141C>A (p.Ala714Asp) c.2402C>A (p.Ala801Asp) c.2372C>A (p.Ala791Asp) c.1889C>A (p.Ala630Asp) c.1784C>A (p.Ala595Asp) | COSMIC |
| 3 | g.122284326C>G | CA354159654 | CASR | c.2141C>G (p.Ala714Gly) c.2402C>G (p.Ala801Gly) c.2372C>G (p.Ala791Gly) c.1889C>G (p.Ala630Gly) c.1784C>G (p.Ala595Gly) | |
| 3 | g.122284326C>T | CA354159653 | CASR | c.2141C>T (p.Ala714Val) c.2402C>T (p.Ala801Val) c.2372C>T (p.Ala791Val) c.1889C>T (p.Ala630Val) c.1784C>T (p.Ala595Val) | ClinVar gnomAD v4 |
| 3 | g.122284327C>A | CA435425145 | CASR | c.2142C>A (p.Ala714=) c.2403C>A (p.Ala801=) c.2373C>A (p.Ala791=) c.1890C>A (p.Ala630=) c.1785C>A (p.Ala595=) | |
| 3 | g.122284327C= | CA1397872190 | CASR | c.2142C= (p.Ala714=) c.2403C= (p.Ala801=) c.2373C= (p.Ala791=) c.1890C= (p.Ala630=) c.1785C= (p.Ala595=) | |
| 3 | g.122284327C>G | CA435425146 | CASR | c.2142C>G (p.Ala714=) c.2403C>G (p.Ala801=) c.2373C>G (p.Ala791=) c.1890C>G (p.Ala630=) c.1785C>G (p.Ala595=) | |
| 3 | g.122284327C>T | CA435425148 | CASR | c.2142C>T (p.Ala714=) c.2403C>T (p.Ala801=) c.2373C>T (p.Ala791=) c.1890C>T (p.Ala630=) c.1785C>T (p.Ala595=) | ClinVar dbSNP |
| 3 | g.122284328T>A | CA354159656 | CASR | c.2143T>A (p.Phe715Ile) c.2404T>A (p.Phe802Ile) c.2374T>A (p.Phe792Ile) c.1891T>A (p.Phe631Ile) c.1786T>A (p.Phe596Ile) | |
| 3 | g.122284328T>C | CA354159657 | CASR | c.2143T>C (p.Phe715Leu) c.2404T>C (p.Phe802Leu) c.2374T>C (p.Phe792Leu) c.1891T>C (p.Phe631Leu) c.1786T>C (p.Phe596Leu) | |
| 3 | g.122284328T>G | CA354159658 | CASR | c.2143T>G (p.Phe715Val) c.2404T>G (p.Phe802Val) c.2374T>G (p.Phe792Val) c.1891T>G (p.Phe631Val) c.1786T>G (p.Phe596Val) | |
| 3 | g.122284329T>A | CA354159659 | CASR | c.2144T>A (p.Phe715Tyr) c.2405T>A (p.Phe802Tyr) c.2375T>A (p.Phe792Tyr) c.1892T>A (p.Phe631Tyr) c.1787T>A (p.Phe596Tyr) | |
| 3 | g.122284329T>C | CA354159660 | CASR | c.2144T>C (p.Phe715Ser) c.2405T>C (p.Phe802Ser) c.2375T>C (p.Phe792Ser) c.1892T>C (p.Phe631Ser) c.1787T>C (p.Phe596Ser) | |
| 3 | g.122284329T>G | CA354159661 | CASR | c.2144T>G (p.Phe715Cys) c.2405T>G (p.Phe802Cys) c.2375T>G (p.Phe792Cys) c.1892T>G (p.Phe631Cys) c.1787T>G (p.Phe596Cys) | |
| 3 | g.122284330C>A | CA354159662 | CASR | c.2145C>A (p.Phe715Leu) c.2406C>A (p.Phe802Leu) c.2376C>A (p.Phe792Leu) c.1893C>A (p.Phe631Leu) c.1788C>A (p.Phe596Leu) | |
| 3 | g.122284330C= | CA1397872196 | CASR | c.2145C= (p.Phe715=) c.2406C= (p.Phe802=) c.2376C= (p.Phe792=) c.1893C= (p.Phe631=) c.1788C= (p.Phe596=) | |
| 3 | g.122284330C>G | CA354159663 | CASR | c.2145C>G (p.Phe715Leu) c.2406C>G (p.Phe802Leu) c.2376C>G (p.Phe792Leu) c.1893C>G (p.Phe631Leu) c.1788C>G (p.Phe596Leu) | |
| 3 | g.122284330C>T | CA435425150 | CASR | c.2145C>T (p.Phe715=) c.2406C>T (p.Phe802=) c.2376C>T (p.Phe792=) c.1893C>T (p.Phe631=) c.1788C>T (p.Phe596=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284331A>C | CA354159664 | CASR | c.2146A>C (p.Lys716Gln) c.2407A>C (p.Lys803Gln) c.2377A>C (p.Lys793Gln) c.1894A>C (p.Lys632Gln) c.1789A>C (p.Lys597Gln) | |
| 3 | g.122284331A>G | CA354159665 | CASR | c.2146A>G (p.Lys716Glu) c.2407A>G (p.Lys803Glu) c.2377A>G (p.Lys793Glu) c.1894A>G (p.Lys632Glu) c.1789A>G (p.Lys597Glu) | |
| 3 | g.122284331A>T | CA354159666 | CASR | c.2146A>T (p.Lys716Ter) c.2407A>T (p.Lys803Ter) c.2377A>T (p.Lys793Ter) c.1894A>T (p.Lys632Ter) c.1789A>T (p.Lys597Ter) | |
| 3 | g.122284332A>C | CA354159669 | CASR | c.2147A>C (p.Lys716Thr) c.2408A>C (p.Lys803Thr) c.2378A>C (p.Lys793Thr) c.1895A>C (p.Lys632Thr) c.1790A>C (p.Lys597Thr) | |
| 3 | g.122284332A>G | CA354159668 | CASR | c.2147A>G (p.Lys716Arg) c.2408A>G (p.Lys803Arg) c.2378A>G (p.Lys793Arg) c.1895A>G (p.Lys632Arg) c.1790A>G (p.Lys597Arg) | |
| 3 | g.122284332A>T | CA354159667 | CASR | c.2147A>T (p.Lys716Met) c.2408A>T (p.Lys803Met) c.2378A>T (p.Lys793Met) c.1895A>T (p.Lys632Met) c.1790A>T (p.Lys597Met) | ClinVar |
| 3 | g.122284333G>A | CA435425151 | CASR | c.2148G>A (p.Lys716=) c.2409G>A (p.Lys803=) c.2379G>A (p.Lys793=) c.1896G>A (p.Lys632=) c.1791G>A (p.Lys597=) | ClinVar dbSNP |
| 3 | g.122284333G>C | CA354159670 | CASR | c.2148G>C (p.Lys716Asn) c.2409G>C (p.Lys803Asn) c.2379G>C (p.Lys793Asn) c.1896G>C (p.Lys632Asn) c.1791G>C (p.Lys597Asn) | |
| 3 | g.122284333G>T | CA354159671 | CASR | c.2148G>T (p.Lys716Asn) c.2409G>T (p.Lys803Asn) c.2379G>T (p.Lys793Asn) c.1896G>T (p.Lys632Asn) c.1791G>T (p.Lys597Asn) | |
| 3 | g.122284334T>A | CA354159672 | CASR | c.2149T>A (p.Ser717Thr) c.2410T>A (p.Ser804Thr) c.2380T>A (p.Ser794Thr) c.1897T>A (p.Ser633Thr) c.1792T>A (p.Ser598Thr) | |
| 3 | g.122284334T>C | CA354159673 | CASR | c.2149T>C (p.Ser717Pro) c.2410T>C (p.Ser804Pro) c.2380T>C (p.Ser794Pro) c.1897T>C (p.Ser633Pro) c.1792T>C (p.Ser598Pro) | |
| 3 | g.122284334T>G | CA354159674 | CASR | c.2149T>G (p.Ser717Ala) c.2410T>G (p.Ser804Ala) c.2380T>G (p.Ser794Ala) c.1897T>G (p.Ser633Ala) c.1792T>G (p.Ser598Ala) | ClinVar |
| 3 | g.122284335C>A | CA354159675 | CASR | c.2150C>A (p.Ser717Tyr) c.2411C>A (p.Ser804Tyr) c.2381C>A (p.Ser794Tyr) c.1898C>A (p.Ser633Tyr) c.1793C>A (p.Ser598Tyr) | |
| 3 | g.122284335C>G | CA354159676 | CASR | c.2150C>G (p.Ser717Cys) c.2411C>G (p.Ser804Cys) c.2381C>G (p.Ser794Cys) c.1898C>G (p.Ser633Cys) c.1793C>G (p.Ser598Cys) | |
| 3 | g.122284335C>T | CA354159677 | CASR | c.2150C>T (p.Ser717Phe) c.2411C>T (p.Ser804Phe) c.2381C>T (p.Ser794Phe) c.1898C>T (p.Ser633Phe) c.1793C>T (p.Ser598Phe) | gnomAD v4 |
| 3 | g.122284337del | CA2580068645 | CASR | c.2152del (p.Arg718GlyfsTer?) c.2413del (p.Arg805GlyfsTer?) c.2383del (p.Arg795GlyfsTer?) c.1900del (p.Arg634GlyfsTer?) c.1795del (p.Arg599GlyfsTer?) | ClinVar dbSNP |
| 3 | g.122284336C>A | CA435425153 | CASR | c.2151C>A (p.Ser717=) c.2412C>A (p.Ser804=) c.2382C>A (p.Ser794=) c.1899C>A (p.Ser633=) c.1794C>A (p.Ser598=) | |
| 3 | g.122284336C>G | CA435425154 | CASR | c.2151C>G (p.Ser717=) c.2412C>G (p.Ser804=) c.2382C>G (p.Ser794=) c.1899C>G (p.Ser633=) c.1794C>G (p.Ser598=) | |
| 3 | g.122284336C>T | CA435425156 | CASR | c.2151C>T (p.Ser717=) c.2412C>T (p.Ser804=) c.2382C>T (p.Ser794=) c.1899C>T (p.Ser633=) c.1794C>T (p.Ser598=) | ClinVar |
| 3 | g.122284337C>A | CA435425159 | CASR | c.2152C>A (p.Arg718=) c.2413C>A (p.Arg805=) c.2383C>A (p.Arg795=) c.1900C>A (p.Arg634=) c.1795C>A (p.Arg599=) | gnomAD v4 |
| 3 | g.122284337C= | CA1397872200 | CASR | c.2152C= (p.Arg718=) c.2413C= (p.Arg805=) c.2383C= (p.Arg795=) c.1900C= (p.Arg634=) c.1795C= (p.Arg599=) | |
| 3 | g.122284337C>G | CA354159678 | CASR | c.2152C>G (p.Arg718Gly) c.2413C>G (p.Arg805Gly) c.2383C>G (p.Arg795Gly) c.1900C>G (p.Arg634Gly) c.1795C>G (p.Arg599Gly) | ClinVar dbSNP |
| 3 | g.122284337C>T | CA119467 | CASR | c.2152C>T (p.Arg718Trp) c.2413C>T (p.Arg805Trp) c.2383C>T (p.Arg795Trp) c.1900C>T (p.Arg634Trp) c.1795C>T (p.Arg599Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284338G>A | CA82748943 | CASR | c.2153G>A (p.Arg718Gln) c.2414G>A (p.Arg805Gln) c.2384G>A (p.Arg795Gln) c.1901G>A (p.Arg634Gln) c.1796G>A (p.Arg599Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284338G>C | CA354159679 | CASR | c.2153G>C (p.Arg718Pro) c.2414G>C (p.Arg805Pro) c.2384G>C (p.Arg795Pro) c.1901G>C (p.Arg634Pro) c.1796G>C (p.Arg599Pro) | ClinVar |
| 3 | g.122284338G= | CA1397872205 | CASR | c.2153G= (p.Arg718=) c.2414G= (p.Arg805=) c.2384G= (p.Arg795=) c.1901G= (p.Arg634=) c.1796G= (p.Arg599=) | |
| 3 | g.122284338G>T | CA354159680 | CASR | c.2153G>T (p.Arg718Leu) c.2414G>T (p.Arg805Leu) c.2384G>T (p.Arg795Leu) c.1901G>T (p.Arg634Leu) c.1796G>T (p.Arg599Leu) | ClinVar dbSNP |
| 3 | g.122284339G>A | CA435425160 | CASR | c.2154G>A (p.Arg718=) c.2415G>A (p.Arg805=) c.2385G>A (p.Arg795=) c.1902G>A (p.Arg634=) c.1797G>A (p.Arg599=) | dbSNP |
| 3 | g.122284339G>C | CA435425161 | CASR | c.2154G>C (p.Arg718=) c.2415G>C (p.Arg805=) c.2385G>C (p.Arg795=) c.1902G>C (p.Arg634=) c.1797G>C (p.Arg599=) | |
| 3 | g.122284339G= | CA1397872209 | CASR | c.2154G= (p.Arg718=) c.2415G= (p.Arg805=) c.2385G= (p.Arg795=) c.1902G= (p.Arg634=) c.1797G= (p.Arg599=) | |
| 3 | g.122284339G>T | CA435425163 | CASR | c.2154G>T (p.Arg718=) c.2415G>T (p.Arg805=) c.2385G>T (p.Arg795=) c.1902G>T (p.Arg634=) c.1797G>T (p.Arg599=) | |
| 3 | g.122284340A>C | CA354159682 | CASR | c.2155A>C (p.Lys719Gln) c.2416A>C (p.Lys806Gln) c.2386A>C (p.Lys796Gln) c.1903A>C (p.Lys635Gln) c.1798A>C (p.Lys600Gln) | |
| 3 | g.122284340A>G | CA354159683 | CASR | c.2155A>G (p.Lys719Glu) c.2416A>G (p.Lys806Glu) c.2386A>G (p.Lys796Glu) c.1903A>G (p.Lys635Glu) c.1798A>G (p.Lys600Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284340A>T | CA354159681 | CASR | c.2155A>T (p.Lys719Ter) c.2416A>T (p.Lys806Ter) c.2386A>T (p.Lys796Ter) c.1903A>T (p.Lys635Ter) c.1798A>T (p.Lys600Ter) | COSMIC |
| 3 | g.122284341A>C | CA354159686 | CASR | c.2156A>C (p.Lys719Thr) c.2417A>C (p.Lys806Thr) c.2387A>C (p.Lys796Thr) c.1904A>C (p.Lys635Thr) c.1799A>C (p.Lys600Thr) | |
| 3 | g.122284341A>G | CA354159684 | CASR | c.2156A>G (p.Lys719Arg) c.2417A>G (p.Lys806Arg) c.2387A>G (p.Lys796Arg) c.1904A>G (p.Lys635Arg) c.1799A>G (p.Lys600Arg) | |
| 3 | g.122284341A>T | CA354159685 | CASR | c.2156A>T (p.Lys719Met) c.2417A>T (p.Lys806Met) c.2387A>T (p.Lys796Met) c.1904A>T (p.Lys635Met) c.1799A>T (p.Lys600Met) | |
| 3 | g.122284342G>A | CA2569820 | CASR | c.2157G>A (p.Lys719=) c.2418G>A (p.Lys806=) c.2388G>A (p.Lys796=) c.1905G>A (p.Lys635=) c.1800G>A (p.Lys600=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284342G>C | CA354159687 | CASR | c.2157G>C (p.Lys719Asn) c.2418G>C (p.Lys806Asn) c.2388G>C (p.Lys796Asn) c.1905G>C (p.Lys635Asn) c.1800G>C (p.Lys600Asn) | |
| 3 | g.122284342G= | CA1397872216 | CASR | c.2157G= (p.Lys719=) c.2418G= (p.Lys806=) c.2388G= (p.Lys796=) c.1905G= (p.Lys635=) c.1800G= (p.Lys600=) | |
| 3 | g.122284342G>T | CA354159688 | CASR | c.2157G>T (p.Lys719Asn) c.2418G>T (p.Lys806Asn) c.2388G>T (p.Lys796Asn) c.1905G>T (p.Lys635Asn) c.1800G>T (p.Lys600Asn) | |
| 3 | g.122284343C>A | CA354159689 | CASR | c.2158C>A (p.Leu720Met) c.2419C>A (p.Leu807Met) c.2389C>A (p.Leu797Met) c.1906C>A (p.Leu636Met) c.1801C>A (p.Leu601Met) | ClinVar dbSNP |
| 3 | g.122284343C= | CA1397872218 | CASR | c.2158C= (p.Leu720=) c.2419C= (p.Leu807=) c.2389C= (p.Leu797=) c.1906C= (p.Leu636=) c.1801C= (p.Leu601=) | |
| 3 | g.122284343C>G | CA354159690 | CASR | c.2158C>G (p.Leu720Val) c.2419C>G (p.Leu807Val) c.2389C>G (p.Leu797Val) c.1906C>G (p.Leu636Val) c.1801C>G (p.Leu601Val) | |
| 3 | g.122284343C>T | CA82748950 | CASR | c.2158C>T (p.Leu720=) c.2419C>T (p.Leu807=) c.2389C>T (p.Leu797=) c.1906C>T (p.Leu636=) c.1801C>T (p.Leu601=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284344T>A | CA354159691 | CASR | c.2159T>A (p.Leu720Gln) c.2420T>A (p.Leu807Gln) c.2390T>A (p.Leu797Gln) c.1907T>A (p.Leu636Gln) c.1802T>A (p.Leu601Gln) | |
| 3 | g.122284344T>C | CA354159692 | CASR | c.2159T>C (p.Leu720Pro) c.2420T>C (p.Leu807Pro) c.2390T>C (p.Leu797Pro) c.1907T>C (p.Leu636Pro) c.1802T>C (p.Leu601Pro) | |
| 3 | g.122284344T>G | CA354159693 | CASR | c.2159T>G (p.Leu720Arg) c.2420T>G (p.Leu807Arg) c.2390T>G (p.Leu797Arg) c.1907T>G (p.Leu636Arg) c.1802T>G (p.Leu601Arg) | |
| 3 | g.122284345G>A | CA435425169 | CASR | c.2160G>A (p.Leu720=) c.2421G>A (p.Leu807=) c.2391G>A (p.Leu797=) c.1908G>A (p.Leu636=) c.1803G>A (p.Leu601=) | |
| 3 | g.122284345G>C | CA435425171 | CASR | c.2160G>C (p.Leu720=) c.2421G>C (p.Leu807=) c.2391G>C (p.Leu797=) c.1908G>C (p.Leu636=) c.1803G>C (p.Leu601=) | |
| 3 | g.122284345G= | CA1397872223 | CASR | c.2160G= (p.Leu720=) c.2421G= (p.Leu807=) c.2391G= (p.Leu797=) c.1908G= (p.Leu636=) c.1803G= (p.Leu601=) | |
| 3 | g.122284345G>T | CA435425170 | CASR | c.2160G>T (p.Leu720=) c.2421G>T (p.Leu807=) c.2391G>T (p.Leu797=) c.1908G>T (p.Leu636=) c.1803G>T (p.Leu601=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284346C>A | CA354159696 | CASR | c.2161C>A (p.Pro721Thr) c.2422C>A (p.Pro808Thr) c.2392C>A (p.Pro798Thr) c.1909C>A (p.Pro637Thr) c.1804C>A (p.Pro602Thr) | |
| 3 | g.122284346C= | CA1397872228 | CASR | c.2161C= (p.Pro721=) c.2422C= (p.Pro808=) c.2392C= (p.Pro798=) c.1909C= (p.Pro637=) c.1804C= (p.Pro602=) | |
| 3 | g.122284346C>G | CA354159695 | CASR | c.2161C>G (p.Pro721Ala) c.2422C>G (p.Pro808Ala) c.2392C>G (p.Pro798Ala) c.1909C>G (p.Pro637Ala) c.1804C>G (p.Pro602Ala) | |
| 3 | g.122284346C>T | CA354159694 | CASR | c.2161C>T (p.Pro721Ser) c.2422C>T (p.Pro808Ser) c.2392C>T (p.Pro798Ser) c.1909C>T (p.Pro637Ser) c.1804C>T (p.Pro602Ser) | ClinVar dbSNP |
| 3 | g.122284347C>A | CA354159697 | CASR | c.2162C>A (p.Pro721Gln) c.2423C>A (p.Pro808Gln) c.2393C>A (p.Pro798Gln) c.1910C>A (p.Pro637Gln) c.1805C>A (p.Pro602Gln) | |
| 3 | g.122284347C= | CA1397872237 | CASR | c.2162C= (p.Pro721=) c.2423C= (p.Pro808=) c.2393C= (p.Pro798=) c.1910C= (p.Pro637=) c.1805C= (p.Pro602=) | |
| 3 | g.122284347C>G | CA354159698 | CASR | c.2162C>G (p.Pro721Arg) c.2423C>G (p.Pro808Arg) c.2393C>G (p.Pro798Arg) c.1910C>G (p.Pro637Arg) c.1805C>G (p.Pro602Arg) | ClinVar dbSNP |
| 3 | g.122284347C>T | CA16611130 | CASR | c.2162C>T (p.Pro721Leu) c.2423C>T (p.Pro808Leu) c.2393C>T (p.Pro798Leu) c.1910C>T (p.Pro637Leu) c.1805C>T (p.Pro602Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122284348G>A | CA435425176 | CASR | c.2163G>A (p.Pro721=) c.2424G>A (p.Pro808=) c.2394G>A (p.Pro798=) c.1911G>A (p.Pro637=) c.1806G>A (p.Pro602=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122284348G>C | CA435425179 | CASR | c.2163G>C (p.Pro721=) c.2424G>C (p.Pro808=) c.2394G>C (p.Pro798=) c.1911G>C (p.Pro637=) c.1806G>C (p.Pro602=) | |
| 3 | g.122284348G= | CA1397872245 | CASR | c.2163G= (p.Pro721=) c.2424G= (p.Pro808=) c.2394G= (p.Pro798=) c.1911G= (p.Pro637=) c.1806G= (p.Pro602=) | |
| 3 | g.122284348G>T | CA435425181 | CASR | c.2163G>T (p.Pro721=) c.2424G>T (p.Pro808=) c.2394G>T (p.Pro798=) c.1911G>T (p.Pro637=) c.1806G>T (p.Pro602=) | |
| 3 | g.122284349G>A | CA354159699 | CASR | c.2164G>A (p.Glu722Lys) c.2425G>A (p.Glu809Lys) c.2395G>A (p.Glu799Lys) c.1912G>A (p.Glu638Lys) c.1807G>A (p.Glu603Lys) | COSMIC |
| 3 | g.122284349G>C | CA354159700 | CASR | c.2164G>C (p.Glu722Gln) c.2425G>C (p.Glu809Gln) c.2395G>C (p.Glu799Gln) c.1912G>C (p.Glu638Gln) c.1807G>C (p.Glu603Gln) | |
| 3 | g.122284349G>T | CA354159701 | CASR | c.2164G>T (p.Glu722Ter) c.2425G>T (p.Glu809Ter) c.2395G>T (p.Glu799Ter) c.1912G>T (p.Glu638Ter) c.1807G>T (p.Glu603Ter) | |
| 3 | g.122284350A>C | CA354159702 | CASR | c.2165A>C (p.Glu722Ala) c.2426A>C (p.Glu809Ala) c.2396A>C (p.Glu799Ala) c.1913A>C (p.Glu638Ala) c.1808A>C (p.Glu603Ala) | |
| 3 | g.122284350A>G | CA354159703 | CASR | c.2165A>G (p.Glu722Gly) c.2426A>G (p.Glu809Gly) c.2396A>G (p.Glu799Gly) c.1913A>G (p.Glu638Gly) c.1808A>G (p.Glu603Gly) | |
| 3 | g.122284350A>T | CA354159704 | CASR | c.2165A>T (p.Glu722Val) c.2426A>T (p.Glu809Val) c.2396A>T (p.Glu799Val) c.1913A>T (p.Glu638Val) c.1808A>T (p.Glu603Val) | |
| 3 | g.122284351G>A | CA2569821 | CASR | c.2166G>A (p.Glu722=) c.2427G>A (p.Glu809=) c.2397G>A (p.Glu799=) c.1914G>A (p.Glu638=) c.1809G>A (p.Glu603=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122284351G>C | CA354159705 | CASR | c.2166G>C (p.Glu722Asp) c.2427G>C (p.Glu809Asp) c.2397G>C (p.Glu799Asp) c.1914G>C (p.Glu638Asp) c.1809G>C (p.Glu603Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284351G= | CA1397872247 | CASR | c.2166G= (p.Glu722=) c.2427G= (p.Glu809=) c.2397G= (p.Glu799=) c.1914G= (p.Glu638=) c.1809G= (p.Glu603=) | |
| 3 | g.122284351G>T | CA354159706 | CASR | c.2166G>T (p.Glu722Asp) c.2427G>T (p.Glu809Asp) c.2397G>T (p.Glu799Asp) c.1914G>T (p.Glu638Asp) c.1809G>T (p.Glu603Asp) | |
| 3 | g.122284352A>C | CA354159708 | CASR | c.2167A>C (p.Asn723His) c.2428A>C (p.Asn810His) c.2398A>C (p.Asn800His) c.1915A>C (p.Asn639His) c.1810A>C (p.Asn604His) | |
| 3 | g.122284352A>G | CA354159709 | CASR | c.2167A>G (p.Asn723Asp) c.2428A>G (p.Asn810Asp) c.2398A>G (p.Asn800Asp) c.1915A>G (p.Asn639Asp) c.1810A>G (p.Asn604Asp) | |
| 3 | g.122284352A>T | CA354159707 | CASR | c.2167A>T (p.Asn723Tyr) c.2428A>T (p.Asn810Tyr) c.2398A>T (p.Asn800Tyr) c.1915A>T (p.Asn639Tyr) c.1810A>T (p.Asn604Tyr) | |
| 3 | g.122284353A>C | CA354159710 | CASR | c.2168A>C (p.Asn723Thr) c.2429A>C (p.Asn810Thr) c.2399A>C (p.Asn800Thr) c.1916A>C (p.Asn639Thr) c.1811A>C (p.Asn604Thr) | |
| 3 | g.122284353A>G | CA354159711 | CASR | c.2168A>G (p.Asn723Ser) c.2429A>G (p.Asn810Ser) c.2399A>G (p.Asn800Ser) c.1916A>G (p.Asn639Ser) c.1811A>G (p.Asn604Ser) | |
| 3 | g.122284353A>T | CA354159712 | CASR | c.2168A>T (p.Asn723Ile) c.2429A>T (p.Asn810Ile) c.2399A>T (p.Asn800Ile) c.1916A>T (p.Asn639Ile) c.1811A>T (p.Asn604Ile) | |
| 3 | g.122284354C>A | CA354159713 | CASR | c.2169C>A (p.Asn723Lys) c.2430C>A (p.Asn810Lys) c.2400C>A (p.Asn800Lys) c.1917C>A (p.Asn639Lys) c.1812C>A (p.Asn604Lys) | |
| 3 | g.122284354C>G | CA354159714 | CASR | c.2169C>G (p.Asn723Lys) c.2430C>G (p.Asn810Lys) c.2400C>G (p.Asn800Lys) c.1917C>G (p.Asn639Lys) c.1812C>G (p.Asn604Lys) | |
| 3 | g.122284354C>T | CA435425191 | CASR | c.2169C>T (p.Asn723=) c.2430C>T (p.Asn810=) c.2400C>T (p.Asn800=) c.1917C>T (p.Asn639=) c.1812C>T (p.Asn604=) | COSMIC |
| 3 | g.122284355T>A | CA354159715 | CASR | c.2170T>A (p.Phe724Ile) c.2431T>A (p.Phe811Ile) c.2401T>A (p.Phe801Ile) c.1918T>A (p.Phe640Ile) c.1813T>A (p.Phe605Ile) | |
| 3 | g.122284355T>C | CA354159716 | CASR | c.2170T>C (p.Phe724Leu) c.2431T>C (p.Phe811Leu) c.2401T>C (p.Phe801Leu) c.1918T>C (p.Phe640Leu) c.1813T>C (p.Phe605Leu) | |
| 3 | g.122284355T>G | CA354159717 | CASR | c.2170T>G (p.Phe724Val) c.2431T>G (p.Phe811Val) c.2401T>G (p.Phe801Val) c.1918T>G (p.Phe640Val) c.1813T>G (p.Phe605Val) | |
| 3 | g.122284356T>A | CA354159718 | CASR | c.2171T>A (p.Phe724Tyr) c.2432T>A (p.Phe811Tyr) c.2402T>A (p.Phe801Tyr) c.1919T>A (p.Phe640Tyr) c.1814T>A (p.Phe605Tyr) | gnomAD v4 |
| 3 | g.122284356T>C | CA354159719 | CASR | c.2171T>C (p.Phe724Ser) c.2432T>C (p.Phe811Ser) c.2402T>C (p.Phe801Ser) c.1919T>C (p.Phe640Ser) c.1814T>C (p.Phe605Ser) | |
| 3 | g.122284356T>G | CA354159720 | CASR | c.2171T>G (p.Phe724Cys) c.2432T>G (p.Phe811Cys) c.2402T>G (p.Phe801Cys) c.1919T>G (p.Phe640Cys) c.1814T>G (p.Phe605Cys) | |
| 3 | g.122284357C>A | CA354159721 | CASR | c.2172C>A (p.Phe724Leu) c.2433C>A (p.Phe811Leu) c.2403C>A (p.Phe801Leu) c.1920C>A (p.Phe640Leu) c.1815C>A (p.Phe605Leu) | |
| 3 | g.122284357C>G | CA354159722 | CASR | c.2172C>G (p.Phe724Leu) c.2433C>G (p.Phe811Leu) c.2403C>G (p.Phe801Leu) c.1920C>G (p.Phe640Leu) c.1815C>G (p.Phe605Leu) | |
| 3 | g.122284357C>T | CA435425196 | CASR | c.2172C>T (p.Phe724=) c.2433C>T (p.Phe811=) c.2403C>T (p.Phe801=) c.1920C>T (p.Phe640=) c.1815C>T (p.Phe605=) | |
| 3 | g.122284358A= | CA1397872251 | CASR | c.2173A= (p.Asn725=) c.2434A= (p.Asn812=) c.2404A= (p.Asn802=) c.1921A= (p.Asn641=) c.1816A= (p.Asn606=) | |
| 3 | g.122284358A>C | CA354159725 | CASR | c.2173A>C (p.Asn725His) c.2434A>C (p.Asn812His) c.2404A>C (p.Asn802His) c.1921A>C (p.Asn641His) c.1816A>C (p.Asn606His) | ClinVar dbSNP |
| 3 | g.122284358A>G | CA354159724 | CASR | c.2173A>G (p.Asn725Asp) c.2434A>G (p.Asn812Asp) c.2404A>G (p.Asn802Asp) c.1921A>G (p.Asn641Asp) c.1816A>G (p.Asn606Asp) | ClinVar dbSNP |
| 3 | g.122284358A>T | CA354159723 | CASR | c.2173A>T (p.Asn725Tyr) c.2434A>T (p.Asn812Tyr) c.2404A>T (p.Asn802Tyr) c.1921A>T (p.Asn641Tyr) c.1816A>T (p.Asn606Tyr) | |
| 3 | g.122284359A= | CA1397872256 | CASR | c.2174A= (p.Asn725=) c.2435A= (p.Asn812=) c.2405A= (p.Asn802=) c.1922A= (p.Asn641=) c.1817A= (p.Asn606=) | |
| 3 | g.122284359A>C | CA354159726 | CASR | c.2174A>C (p.Asn725Thr) c.2435A>C (p.Asn812Thr) c.2405A>C (p.Asn802Thr) c.1922A>C (p.Asn641Thr) c.1817A>C (p.Asn606Thr) | |
| 3 | g.122284359A>G | CA2569822 | CASR | c.2174A>G (p.Asn725Ser) c.2435A>G (p.Asn812Ser) c.2405A>G (p.Asn802Ser) c.1922A>G (p.Asn641Ser) c.1817A>G (p.Asn606Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284359A>T | CA354159727 | CASR | c.2174A>T (p.Asn725Ile) c.2435A>T (p.Asn812Ile) c.2405A>T (p.Asn802Ile) c.1922A>T (p.Asn641Ile) c.1817A>T (p.Asn606Ile) | |
| 3 | g.122284360T>A | CA354159728 | CASR | c.2175T>A (p.Asn725Lys) c.2436T>A (p.Asn812Lys) c.2406T>A (p.Asn802Lys) c.1923T>A (p.Asn641Lys) c.1818T>A (p.Asn606Lys) | |
| 3 | g.122284360T>C | CA435425199 | CASR | c.2175T>C (p.Asn725=) c.2436T>C (p.Asn812=) c.2406T>C (p.Asn802=) c.1923T>C (p.Asn641=) c.1818T>C (p.Asn606=) | ClinVar COSMIC |
| 3 | g.122284360T>G | CA354159729 | CASR | c.2175T>G (p.Asn725Lys) c.2436T>G (p.Asn812Lys) c.2406T>G (p.Asn802Lys) c.1923T>G (p.Asn641Lys) c.1818T>G (p.Asn606Lys) | |
| 3 | g.122284361G>A | CA354159730 | CASR | c.2176G>A (p.Glu726Lys) c.2437G>A (p.Glu813Lys) c.2407G>A (p.Glu803Lys) c.1924G>A (p.Glu642Lys) c.1819G>A (p.Glu607Lys) | |
| 3 | g.122284361G>C | CA354159731 | CASR | c.2176G>C (p.Glu726Gln) c.2437G>C (p.Glu813Gln) c.2407G>C (p.Glu803Gln) c.1924G>C (p.Glu642Gln) c.1819G>C (p.Glu607Gln) | |
| 3 | g.122284361G>T | CA354159732 | CASR | c.2176G>T (p.Glu726Ter) c.2437G>T (p.Glu813Ter) c.2407G>T (p.Glu803Ter) c.1924G>T (p.Glu642Ter) c.1819G>T (p.Glu607Ter) |