Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
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=) | |
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) |