Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122284272T>ACA354159487CASRc.2087T>A (p.Leu696Gln)
c.2348T>A (p.Leu783Gln)
c.2318T>A (p.Leu773Gln)
c.1835T>A (p.Leu612Gln)
c.1730T>A (p.Leu577Gln)
3g.122284272T>CCA354159489CASRc.2087T>C (p.Leu696Pro)
c.2348T>C (p.Leu783Pro)
c.2318T>C (p.Leu773Pro)
c.1835T>C (p.Leu612Pro)
c.1730T>C (p.Leu577Pro)
3g.122284272T>GCA119495CASRc.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
3g.122284272T=CA1397872068CASRc.2087T= (p.Leu696=)
c.2348T= (p.Leu783=)
c.2318T= (p.Leu773=)
c.1835T= (p.Leu612=)
c.1730T= (p.Leu577=)
3g.122284273G>ACA435424900CASRc.2088G>A (p.Leu696=)
c.2349G>A (p.Leu783=)
c.2319G>A (p.Leu773=)
c.1836G>A (p.Leu612=)
c.1731G>A (p.Leu577=)
3g.122284273G>CCA435424901CASRc.2088G>C (p.Leu696=)
c.2349G>C (p.Leu783=)
c.2319G>C (p.Leu773=)
c.1836G>C (p.Leu612=)
c.1731G>C (p.Leu577=)
3g.122284273G>TCA435424902CASRc.2088G>T (p.Leu696=)
c.2349G>T (p.Leu783=)
c.2319G>T (p.Leu773=)
c.1836G>T (p.Leu612=)
c.1731G>T (p.Leu577=)
3g.122284274G>ACA354159491CASRc.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
3g.122284274G>CCA354159494CASRc.2089G>C (p.Gly697Arg)
c.2350G>C (p.Gly784Arg)
c.2320G>C (p.Gly774Arg)
c.1837G>C (p.Gly613Arg)
c.1732G>C (p.Gly578Arg)
3g.122284274G>TCA354159496CASRc.2089G>T (p.Gly697Cys)
c.2350G>T (p.Gly784Cys)
c.2320G>T (p.Gly774Cys)
c.1837G>T (p.Gly613Cys)
c.1732G>T (p.Gly578Cys)
3g.122284275G>ACA354159498CASRc.2090G>A (p.Gly697Asp)
c.2351G>A (p.Gly784Asp)
c.2321G>A (p.Gly774Asp)
c.1838G>A (p.Gly613Asp)
c.1733G>A (p.Gly578Asp)
3g.122284275G>CCA354159501CASRc.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
3g.122284275G=CA1397872074CASRc.2090G= (p.Gly697=)
c.2351G= (p.Gly784=)
c.2321G= (p.Gly774=)
c.1838G= (p.Gly613=)
c.1733G= (p.Gly578=)
3g.122284275G>TCA354159503CASRc.2090G>T (p.Gly697Val)
c.2351G>T (p.Gly784Val)
c.2321G>T (p.Gly774Val)
c.1838G>T (p.Gly613Val)
c.1733G>T (p.Gly578Val)
3g.122284276C>ACA435424911CASRc.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
3g.122284276C>GCA435424914CASRc.2091C>G (p.Gly697=)
c.2352C>G (p.Gly784=)
c.2322C>G (p.Gly774=)
c.1839C>G (p.Gly613=)
c.1734C>G (p.Gly578=)
3g.122284276C>TCA435424915CASRc.2091C>T (p.Gly697=)
c.2352C>T (p.Gly784=)
c.2322C>T (p.Gly774=)
c.1839C>T (p.Gly613=)
c.1734C>T (p.Gly578=)
3g.122284277T>ACA354159505CASRc.2092T>A (p.Phe698Ile)
c.2353T>A (p.Phe785Ile)
c.2323T>A (p.Phe775Ile)
c.1840T>A (p.Phe614Ile)
c.1735T>A (p.Phe579Ile)
3g.122284277T>CCA354159507CASRc.2092T>C (p.Phe698Leu)
c.2353T>C (p.Phe785Leu)
c.2323T>C (p.Phe775Leu)
c.1840T>C (p.Phe614Leu)
c.1735T>C (p.Phe579Leu)
3g.122284277T>GCA354159509CASRc.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
3g.122284278T>ACA354159512CASRc.2093T>A (p.Phe698Tyr)
c.2354T>A (p.Phe785Tyr)
c.2324T>A (p.Phe775Tyr)
c.1841T>A (p.Phe614Tyr)
c.1736T>A (p.Phe579Tyr)
3g.122284278T>CCA354159513CASRc.2093T>C (p.Phe698Ser)
c.2354T>C (p.Phe785Ser)
c.2324T>C (p.Phe775Ser)
c.1841T>C (p.Phe614Ser)
c.1736T>C (p.Phe579Ser)
3g.122284278T>GCA354159515CASRc.2093T>G (p.Phe698Cys)
c.2354T>G (p.Phe785Cys)
c.2324T>G (p.Phe775Cys)
c.1841T>G (p.Phe614Cys)
c.1736T>G (p.Phe579Cys)
3g.122284279C>ACA354159519CASRc.2094C>A (p.Phe698Leu)
c.2355C>A (p.Phe785Leu)
c.2325C>A (p.Phe775Leu)
c.1842C>A (p.Phe614Leu)
c.1737C>A (p.Phe579Leu)
3g.122284279C=CA1397872078CASRc.2094C= (p.Phe698=)
c.2355C= (p.Phe785=)
c.2325C= (p.Phe775=)
c.1842C= (p.Phe614=)
c.1737C= (p.Phe579=)
3g.122284279C>GCA354159517CASRc.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
3g.122284279C>TCA2569814CASRc.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
3g.122284280C>ACA354159522CASRc.2095C>A (p.Leu699Met)
c.2356C>A (p.Leu786Met)
c.2326C>A (p.Leu776Met)
c.1843C>A (p.Leu615Met)
c.1738C>A (p.Leu580Met)
3g.122284280C>GCA354159524CASRc.2095C>G (p.Leu699Val)
c.2356C>G (p.Leu786Val)
c.2326C>G (p.Leu776Val)
c.1843C>G (p.Leu615Val)
c.1738C>G (p.Leu580Val)
3g.122284280C>TCA435424920CASRc.2095C>T (p.Leu699=)
c.2356C>T (p.Leu786=)
c.2326C>T (p.Leu776=)
c.1843C>T (p.Leu615=)
c.1738C>T (p.Leu580=)
3g.122284281T>ACA354159527CASRc.2096T>A (p.Leu699Gln)
c.2357T>A (p.Leu786Gln)
c.2327T>A (p.Leu776Gln)
c.1844T>A (p.Leu615Gln)
c.1739T>A (p.Leu580Gln)
3g.122284281T>CCA354159528CASRc.2096T>C (p.Leu699Pro)
c.2357T>C (p.Leu786Pro)
c.2327T>C (p.Leu776Pro)
c.1844T>C (p.Leu615Pro)
c.1739T>C (p.Leu580Pro)
3g.122284281T>GCA354159530CASRc.2096T>G (p.Leu699Arg)
c.2357T>G (p.Leu786Arg)
c.2327T>G (p.Leu776Arg)
c.1844T>G (p.Leu615Arg)
c.1739T>G (p.Leu580Arg)
3g.122284282G>ACA2569815CASRc.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
3g.122284282G>CCA435424924CASRc.2097G>C (p.Leu699=)
c.2358G>C (p.Leu786=)
c.2328G>C (p.Leu776=)
c.1845G>C (p.Leu615=)
c.1740G>C (p.Leu580=)
3g.122284282G=CA1397872086CASRc.2097G= (p.Leu699=)
c.2358G= (p.Leu786=)
c.2328G= (p.Leu776=)
c.1845G= (p.Leu615=)
c.1740G= (p.Leu580=)
3g.122284282G>TCA435424925CASRc.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
3g.122284283A=CA1397872091CASRc.2098A= (p.Ile700=)
c.2359A= (p.Ile787=)
c.2329A= (p.Ile777=)
c.1846A= (p.Ile616=)
c.1741A= (p.Ile581=)
3g.122284283A>CCA354159533CASRc.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
3g.122284283A>GCA354159535CASRc.2098A>G (p.Ile700Val)
c.2359A>G (p.Ile787Val)
c.2329A>G (p.Ile777Val)
c.1846A>G (p.Ile616Val)
c.1741A>G (p.Ile581Val)
3g.122284283A>TCA354159537CASRc.2098A>T (p.Ile700Phe)
c.2359A>T (p.Ile787Phe)
c.2329A>T (p.Ile777Phe)
c.1846A>T (p.Ile616Phe)
c.1741A>T (p.Ile581Phe)
3g.122284284T>ACA354159540CASRc.2099T>A (p.Ile700Asn)
c.2360T>A (p.Ile787Asn)
c.2330T>A (p.Ile777Asn)
c.1847T>A (p.Ile616Asn)
c.1742T>A (p.Ile581Asn)
3g.122284284T>CCA354159542CASRc.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
3g.122284284T>GCA354159544CASRc.2099T>G (p.Ile700Ser)
c.2360T>G (p.Ile787Ser)
c.2330T>G (p.Ile777Ser)
c.1847T>G (p.Ile616Ser)
c.1742T>G (p.Ile581Ser)
3g.122284284T=CA1397872094CASRc.2099T= (p.Ile700=)
c.2360T= (p.Ile787=)
c.2330T= (p.Ile777=)
c.1847T= (p.Ile616=)
c.1742T= (p.Ile581=)
3g.122284285C>ACA435424930CASRc.2100C>A (p.Ile700=)
c.2361C>A (p.Ile787=)
c.2331C>A (p.Ile777=)
c.1848C>A (p.Ile616=)
c.1743C>A (p.Ile581=)
3g.122284285C=CA1397872100CASRc.2100C= (p.Ile700=)
c.2361C= (p.Ile787=)
c.2331C= (p.Ile777=)
c.1848C= (p.Ile616=)
c.1743C= (p.Ile581=)
3g.122284285C>GCA354159546CASRc.2100C>G (p.Ile700Met)
c.2361C>G (p.Ile787Met)
c.2331C>G (p.Ile777Met)
c.1848C>G (p.Ile616Met)
c.1743C>G (p.Ile581Met)
3g.122284285C>TCA2569816CASRc.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
3g.122284285_122284286insAGCCA2586972869CASRc.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)

Number of alleles fetched