Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122284142C>A | CA354158946 | CASR | c.1957C>A (p.Leu653Ile) c.2218C>A (p.Leu740Ile) c.2188C>A (p.Leu730Ile) c.1705C>A (p.Leu569Ile) c.1600C>A (p.Leu534Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284142C= | CA1397871764 | CASR | c.1957C= (p.Leu653=) c.2218C= (p.Leu740=) c.2188C= (p.Leu730=) c.1705C= (p.Leu569=) c.1600C= (p.Leu534=) | |
3 | g.122284142C>G | CA354158947 | CASR | c.1957C>G (p.Leu653Val) c.2218C>G (p.Leu740Val) c.2188C>G (p.Leu730Val) c.1705C>G (p.Leu569Val) c.1600C>G (p.Leu534Val) | |
3 | g.122284142C>T | CA354158949 | CASR | c.1957C>T (p.Leu653Phe) c.2218C>T (p.Leu740Phe) c.2188C>T (p.Leu730Phe) c.1705C>T (p.Leu569Phe) c.1600C>T (p.Leu534Phe) | ClinVar gnomAD v4 |
3 | g.122284143T>A | CA354158951 | CASR | c.1958T>A (p.Leu653His) c.2219T>A (p.Leu740His) c.2189T>A (p.Leu730His) c.1706T>A (p.Leu569His) c.1601T>A (p.Leu534His) | |
3 | g.122284143T>C | CA354158956 | CASR | c.1958T>C (p.Leu653Pro) c.2219T>C (p.Leu740Pro) c.2189T>C (p.Leu730Pro) c.1706T>C (p.Leu569Pro) c.1601T>C (p.Leu534Pro) | |
3 | g.122284143T>G | CA354158955 | CASR | c.1958T>G (p.Leu653Arg) c.2219T>G (p.Leu740Arg) c.2189T>G (p.Leu730Arg) c.1706T>G (p.Leu569Arg) c.1601T>G (p.Leu534Arg) | |
3 | g.122284144C>A | CA435425286 | CASR | c.1959C>A (p.Leu653=) c.2220C>A (p.Leu740=) c.2190C>A (p.Leu730=) c.1707C>A (p.Leu569=) c.1602C>A (p.Leu534=) | COSMIC |
3 | g.122284144C= | CA1397871768 | CASR | c.1959C= (p.Leu653=) c.2220C= (p.Leu740=) c.2190C= (p.Leu730=) c.1707C= (p.Leu569=) c.1602C= (p.Leu534=) | |
3 | g.122284144C>G | CA435425287 | CASR | c.1959C>G (p.Leu653=) c.2220C>G (p.Leu740=) c.2190C>G (p.Leu730=) c.1707C>G (p.Leu569=) c.1602C>G (p.Leu534=) | ClinVar |
3 | g.122284144C>T | CA435425288 | CASR | c.1959C>T (p.Leu653=) c.2220C>T (p.Leu740=) c.2190C>T (p.Leu730=) c.1707C>T (p.Leu569=) c.1602C>T (p.Leu534=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284145T>A | CA354158959 | CASR | c.1960T>A (p.Cys654Ser) c.2221T>A (p.Cys741Ser) c.2191T>A (p.Cys731Ser) c.1708T>A (p.Cys570Ser) c.1603T>A (p.Cys535Ser) | ClinVar |
3 | g.122284145T>C | CA354158960 | CASR | c.1960T>C (p.Cys654Arg) c.2221T>C (p.Cys741Arg) c.2191T>C (p.Cys731Arg) c.1708T>C (p.Cys570Arg) c.1603T>C (p.Cys535Arg) | |
3 | g.122284145T>G | CA354158962 | CASR | c.1960T>G (p.Cys654Gly) c.2221T>G (p.Cys741Gly) c.2191T>G (p.Cys731Gly) c.1708T>G (p.Cys570Gly) c.1603T>G (p.Cys535Gly) | |
3 | g.122284146G>A | CA354158964 | CASR | c.1961G>A (p.Cys654Tyr) c.2222G>A (p.Cys741Tyr) c.2192G>A (p.Cys731Tyr) c.1709G>A (p.Cys570Tyr) c.1604G>A (p.Cys535Tyr) | |
3 | g.122284146G>C | CA354158965 | CASR | c.1961G>C (p.Cys654Ser) c.2222G>C (p.Cys741Ser) c.2192G>C (p.Cys731Ser) c.1709G>C (p.Cys570Ser) c.1604G>C (p.Cys535Ser) | |
3 | g.122284146G>T | CA354158967 | CASR | c.1961G>T (p.Cys654Phe) c.2222G>T (p.Cys741Phe) c.2192G>T (p.Cys731Phe) c.1709G>T (p.Cys570Phe) c.1604G>T (p.Cys535Phe) | |
3 | g.122284147C>A | CA354158969 | CASR | c.1962C>A (p.Cys654Ter) c.2223C>A (p.Cys741Ter) c.2193C>A (p.Cys731Ter) c.1710C>A (p.Cys570Ter) c.1605C>A (p.Cys535Ter) | |
3 | g.122284147C= | CA1397871770 | CASR | c.1962C= (p.Cys654=) c.2223C= (p.Cys741=) c.2193C= (p.Cys731=) c.1710C= (p.Cys570=) c.1605C= (p.Cys535=) | |
3 | g.122284147C>G | CA354158970 | CASR | c.1962C>G (p.Cys654Trp) c.2223C>G (p.Cys741Trp) c.2193C>G (p.Cys731Trp) c.1710C>G (p.Cys570Trp) c.1605C>G (p.Cys535Trp) | |
3 | g.122284147C>T | CA2569790 | CASR | c.1962C>T (p.Cys654=) c.2223C>T (p.Cys741=) c.2193C>T (p.Cys731=) c.1710C>T (p.Cys570=) c.1605C>T (p.Cys535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284148A= | CA1397871773 | CASR | c.1963A= (p.Thr655=) c.2224A= (p.Thr742=) c.2194A= (p.Thr732=) c.1711A= (p.Thr571=) c.1606A= (p.Thr536=) | |
3 | g.122284148A>C | CA354158971 | CASR | c.1963A>C (p.Thr655Pro) c.2224A>C (p.Thr742Pro) c.2194A>C (p.Thr732Pro) c.1711A>C (p.Thr571Pro) c.1606A>C (p.Thr536Pro) | |
3 | g.122284148A>G | CA354158972 | CASR | c.1963A>G (p.Thr655Ala) c.2224A>G (p.Thr742Ala) c.2194A>G (p.Thr732Ala) c.1711A>G (p.Thr571Ala) c.1606A>G (p.Thr536Ala) | ClinVar dbSNP COSMIC |
3 | g.122284148A>T | CA354158973 | CASR | c.1963A>T (p.Thr655Ser) c.2224A>T (p.Thr742Ser) c.2194A>T (p.Thr732Ser) c.1711A>T (p.Thr571Ser) c.1606A>T (p.Thr536Ser) | |
3 | g.122284149C>A | CA354158979 | CASR | c.1964C>A (p.Thr655Asn) c.2225C>A (p.Thr742Asn) c.2195C>A (p.Thr732Asn) c.1712C>A (p.Thr571Asn) c.1607C>A (p.Thr536Asn) | |
3 | g.122284149C>G | CA354158975 | CASR | c.1964C>G (p.Thr655Ser) c.2225C>G (p.Thr742Ser) c.2195C>G (p.Thr732Ser) c.1712C>G (p.Thr571Ser) c.1607C>G (p.Thr536Ser) | |
3 | g.122284149C>T | CA354158977 | CASR | c.1964C>T (p.Thr655Ile) c.2225C>T (p.Thr742Ile) c.2195C>T (p.Thr732Ile) c.1712C>T (p.Thr571Ile) c.1607C>T (p.Thr536Ile) | gnomAD v4 |
3 | g.122284150C>A | CA435425295 | CASR | c.1965C>A (p.Thr655=) c.2226C>A (p.Thr742=) c.2196C>A (p.Thr732=) c.1713C>A (p.Thr571=) c.1608C>A (p.Thr536=) | gnomAD v4 |
3 | g.122284150C>G | CA435425296 | CASR | c.1965C>G (p.Thr655=) c.2226C>G (p.Thr742=) c.2196C>G (p.Thr732=) c.1713C>G (p.Thr571=) c.1608C>G (p.Thr536=) | |
3 | g.122284150C>T | CA435425298 | CASR | c.1965C>T (p.Thr655=) c.2226C>T (p.Thr742=) c.2196C>T (p.Thr732=) c.1713C>T (p.Thr571=) c.1608C>T (p.Thr536=) | ClinVar gnomAD v4 |
3 | g.122284151T>A | CA354158982 | CASR | c.1966T>A (p.Phe656Ile) c.2227T>A (p.Phe743Ile) c.2197T>A (p.Phe733Ile) c.1714T>A (p.Phe572Ile) c.1609T>A (p.Phe537Ile) | gnomAD v4 |
3 | g.122284151T>C | CA354158984 | CASR | c.1966T>C (p.Phe656Leu) c.2227T>C (p.Phe743Leu) c.2197T>C (p.Phe733Leu) c.1714T>C (p.Phe572Leu) c.1609T>C (p.Phe537Leu) | |
3 | g.122284151T>G | CA354158985 | CASR | c.1966T>G (p.Phe656Val) c.2227T>G (p.Phe743Val) c.2197T>G (p.Phe733Val) c.1714T>G (p.Phe572Val) c.1609T>G (p.Phe537Val) | |
3 | g.122284152T>A | CA354158989 | CASR | c.1967T>A (p.Phe656Tyr) c.2228T>A (p.Phe743Tyr) c.2198T>A (p.Phe733Tyr) c.1715T>A (p.Phe572Tyr) c.1610T>A (p.Phe537Tyr) | |
3 | g.122284152T>C | CA354158991 | CASR | c.1967T>C (p.Phe656Ser) c.2228T>C (p.Phe743Ser) c.2198T>C (p.Phe733Ser) c.1715T>C (p.Phe572Ser) c.1610T>C (p.Phe537Ser) | |
3 | g.122284152T>G | CA354158993 | CASR | c.1967T>G (p.Phe656Cys) c.2228T>G (p.Phe743Cys) c.2198T>G (p.Phe733Cys) c.1715T>G (p.Phe572Cys) c.1610T>G (p.Phe537Cys) | |
3 | g.122284153C>A | CA354158995 | CASR | c.1968C>A (p.Phe656Leu) c.2229C>A (p.Phe743Leu) c.2199C>A (p.Phe733Leu) c.1716C>A (p.Phe572Leu) c.1611C>A (p.Phe537Leu) | ClinVar dbSNP |
3 | g.122284153C= | CA1397871778 | CASR | c.1968C= (p.Phe656=) c.2229C= (p.Phe743=) c.2199C= (p.Phe733=) c.1716C= (p.Phe572=) c.1611C= (p.Phe537=) | |
3 | g.122284153C>G | CA354158996 | CASR | c.1968C>G (p.Phe656Leu) c.2229C>G (p.Phe743Leu) c.2199C>G (p.Phe733Leu) c.1716C>G (p.Phe572Leu) c.1611C>G (p.Phe537Leu) | |
3 | g.122284153C>T | CA435425302 | CASR | c.1968C>T (p.Phe656=) c.2229C>T (p.Phe743=) c.2199C>T (p.Phe733=) c.1716C>T (p.Phe572=) c.1611C>T (p.Phe537=) | COSMIC |
3 | g.122284154A= | CA1397871784 | CASR | c.1969A= (p.Met657=) c.2230A= (p.Met744=) c.2200A= (p.Met734=) c.1717A= (p.Met573=) c.1612A= (p.Met538=) | |
3 | g.122284154A>C | CA354158997 | CASR | c.1969A>C (p.Met657Leu) c.2230A>C (p.Met744Leu) c.2200A>C (p.Met734Leu) c.1717A>C (p.Met573Leu) c.1612A>C (p.Met538Leu) | |
3 | g.122284154A>G | CA354158999 | CASR | c.1969A>G (p.Met657Val) c.2230A>G (p.Met744Val) c.2200A>G (p.Met734Val) c.1717A>G (p.Met573Val) c.1612A>G (p.Met538Val) | |
3 | g.122284154A>T | CA354159001 | CASR | c.1969A>T (p.Met657Leu) c.2230A>T (p.Met744Leu) c.2200A>T (p.Met734Leu) c.1717A>T (p.Met573Leu) c.1612A>T (p.Met538Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284155T>A | CA354159005 | CASR | c.1970T>A (p.Met657Lys) c.2231T>A (p.Met744Lys) c.2201T>A (p.Met734Lys) c.1718T>A (p.Met573Lys) c.1613T>A (p.Met538Lys) | |
3 | g.122284155T>C | CA354159008 | CASR | c.1970T>C (p.Met657Thr) c.2231T>C (p.Met744Thr) c.2201T>C (p.Met734Thr) c.1718T>C (p.Met573Thr) c.1613T>C (p.Met538Thr) | |
3 | g.122284155T>G | CA354159003 | CASR | c.1970T>G (p.Met657Arg) c.2231T>G (p.Met744Arg) c.2201T>G (p.Met734Arg) c.1718T>G (p.Met573Arg) c.1613T>G (p.Met538Arg) | gnomAD v4 |
3 | g.122284156G>A | CA82748800 | CASR | c.1971G>A (p.Met657Ile) c.2232G>A (p.Met744Ile) c.2202G>A (p.Met734Ile) c.1719G>A (p.Met573Ile) c.1614G>A (p.Met538Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284156G>C | CA354159011 | CASR | c.1971G>C (p.Met657Ile) c.2232G>C (p.Met744Ile) c.2202G>C (p.Met734Ile) c.1719G>C (p.Met573Ile) c.1614G>C (p.Met538Ile) | |
3 | g.122284156G= | CA1397871787 | CASR | c.1971G= (p.Met657=) c.2232G= (p.Met744=) c.2202G= (p.Met734=) c.1719G= (p.Met573=) c.1614G= (p.Met538=) | |
3 | g.122284156G>T | CA354159013 | CASR | c.1971G>T (p.Met657Ile) c.2232G>T (p.Met744Ile) c.2202G>T (p.Met734Ile) c.1719G>T (p.Met573Ile) c.1614G>T (p.Met538Ile) | gnomAD v4 |
3 | g.122284157C>A | CA354159015 | CASR | c.1972C>A (p.Gln658Lys) c.2233C>A (p.Gln745Lys) c.2203C>A (p.Gln735Lys) c.1720C>A (p.Gln574Lys) c.1615C>A (p.Gln539Lys) | ClinVar dbSNP |
3 | g.122284157C= | CA1397871791 | CASR | c.1972C= (p.Gln658=) c.2233C= (p.Gln745=) c.2203C= (p.Gln735=) c.1720C= (p.Gln574=) c.1615C= (p.Gln539=) | |
3 | g.122284157C>G | CA354159018 | CASR | c.1972C>G (p.Gln658Glu) c.2233C>G (p.Gln745Glu) c.2203C>G (p.Gln735Glu) c.1720C>G (p.Gln574Glu) c.1615C>G (p.Gln539Glu) | ClinVar |
3 | g.122284157C>T | CA354159016 | CASR | c.1972C>T (p.Gln658Ter) c.2233C>T (p.Gln745Ter) c.2203C>T (p.Gln735Ter) c.1720C>T (p.Gln574Ter) c.1615C>T (p.Gln539Ter) | |
3 | g.122284158A>C | CA354159020 | CASR | c.1973A>C (p.Gln658Pro) c.2234A>C (p.Gln745Pro) c.2204A>C (p.Gln735Pro) c.1721A>C (p.Gln574Pro) c.1616A>C (p.Gln539Pro) | ClinVar |
3 | g.122284158A>G | CA354159021 | CASR | c.1973A>G (p.Gln658Arg) c.2234A>G (p.Gln745Arg) c.2204A>G (p.Gln735Arg) c.1721A>G (p.Gln574Arg) c.1616A>G (p.Gln539Arg) | |
3 | g.122284158A>T | CA354159022 | CASR | c.1973A>T (p.Gln658Leu) c.2234A>T (p.Gln745Leu) c.2204A>T (p.Gln735Leu) c.1721A>T (p.Gln574Leu) c.1616A>T (p.Gln539Leu) | |
3 | g.122284159G>A | CA435425310 | CASR | c.1974G>A (p.Gln658=) c.2235G>A (p.Gln745=) c.2205G>A (p.Gln735=) c.1722G>A (p.Gln574=) c.1617G>A (p.Gln539=) | |
3 | g.122284159G>C | CA354159023 | CASR | c.1974G>C (p.Gln658His) c.2235G>C (p.Gln745His) c.2205G>C (p.Gln735His) c.1722G>C (p.Gln574His) c.1617G>C (p.Gln539His) | ClinVar gnomAD v4 |
3 | g.122284159G>T | CA354159024 | CASR | c.1974G>T (p.Gln658His) c.2235G>T (p.Gln745His) c.2205G>T (p.Gln735His) c.1722G>T (p.Gln574His) c.1617G>T (p.Gln539His) | |
3 | g.122284160A>C | CA354159026 | CASR | c.1975A>C (p.Ile659Leu) c.2236A>C (p.Ile746Leu) c.2206A>C (p.Ile736Leu) c.1723A>C (p.Ile575Leu) c.1618A>C (p.Ile540Leu) | |
3 | g.122284160A>G | CA354159028 | CASR | c.1975A>G (p.Ile659Val) c.2236A>G (p.Ile746Val) c.2206A>G (p.Ile736Val) c.1723A>G (p.Ile575Val) c.1618A>G (p.Ile540Val) | |
3 | g.122284160A>T | CA354159030 | CASR | c.1975A>T (p.Ile659Phe) c.2236A>T (p.Ile746Phe) c.2206A>T (p.Ile736Phe) c.1723A>T (p.Ile575Phe) c.1618A>T (p.Ile540Phe) | |
3 | g.122284161T>A | CA354159031 | CASR | c.1976T>A (p.Ile659Asn) c.2237T>A (p.Ile746Asn) c.2207T>A (p.Ile736Asn) c.1724T>A (p.Ile575Asn) c.1619T>A (p.Ile540Asn) | |
3 | g.122284161T>C | CA2569791 | CASR | c.1976T>C (p.Ile659Thr) c.2237T>C (p.Ile746Thr) c.2207T>C (p.Ile736Thr) c.1724T>C (p.Ile575Thr) c.1619T>C (p.Ile540Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284161T>G | CA354159034 | CASR | c.1976T>G (p.Ile659Ser) c.2237T>G (p.Ile746Ser) c.2207T>G (p.Ile736Ser) c.1724T>G (p.Ile575Ser) c.1619T>G (p.Ile540Ser) | |
3 | g.122284161T= | CA1397871794 | CASR | c.1976T= (p.Ile659=) c.2237T= (p.Ile746=) c.2207T= (p.Ile736=) c.1724T= (p.Ile575=) c.1619T= (p.Ile540=) | |
3 | g.122284162T>A | CA435425314 | CASR | c.1977T>A (p.Ile659=) c.2238T>A (p.Ile746=) c.2208T>A (p.Ile736=) c.1725T>A (p.Ile575=) c.1620T>A (p.Ile540=) | |
3 | g.122284162T>C | CA435425315 | CASR | c.1977T>C (p.Ile659=) c.2238T>C (p.Ile746=) c.2208T>C (p.Ile736=) c.1725T>C (p.Ile575=) c.1620T>C (p.Ile540=) | |
3 | g.122284162T>G | CA354159036 | CASR | c.1977T>G (p.Ile659Met) c.2238T>G (p.Ile746Met) c.2208T>G (p.Ile736Met) c.1725T>G (p.Ile575Met) c.1620T>G (p.Ile540Met) | gnomAD v4 |
3 | g.122284163G>A | CA2569792 | CASR | c.1978G>A (p.Val660Ile) c.2239G>A (p.Val747Ile) c.2209G>A (p.Val737Ile) c.1726G>A (p.Val576Ile) c.1621G>A (p.Val541Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284163G>C | CA354159039 | CASR | c.1978G>C (p.Val660Leu) c.2239G>C (p.Val747Leu) c.2209G>C (p.Val737Leu) c.1726G>C (p.Val576Leu) c.1621G>C (p.Val541Leu) | |
3 | g.122284163G= | CA1397871799 | CASR | c.1978G= (p.Val660=) c.2239G= (p.Val747=) c.2209G= (p.Val737=) c.1726G= (p.Val576=) c.1621G= (p.Val541=) | |
3 | g.122284163G>T | CA354159041 | CASR | c.1978G>T (p.Val660Phe) c.2239G>T (p.Val747Phe) c.2209G>T (p.Val737Phe) c.1726G>T (p.Val576Phe) c.1621G>T (p.Val541Phe) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284164T>A | CA354159044 | CASR | c.1979T>A (p.Val660Asp) c.2240T>A (p.Val747Asp) c.2210T>A (p.Val737Asp) c.1727T>A (p.Val576Asp) c.1622T>A (p.Val541Asp) | |
3 | g.122284164T>C | CA354159045 | CASR | c.1979T>C (p.Val660Ala) c.2240T>C (p.Val747Ala) c.2210T>C (p.Val737Ala) c.1727T>C (p.Val576Ala) c.1622T>C (p.Val541Ala) | |
3 | g.122284164T>G | CA354159046 | CASR | c.1979T>G (p.Val660Gly) c.2240T>G (p.Val747Gly) c.2210T>G (p.Val737Gly) c.1727T>G (p.Val576Gly) c.1622T>G (p.Val541Gly) | |
3 | g.122284165C>A | CA2569793 | CASR | c.1980C>A (p.Val660=) c.2241C>A (p.Val747=) c.2211C>A (p.Val737=) c.1728C>A (p.Val576=) c.1623C>A (p.Val541=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284165C= | CA1397871800 | CASR | c.1980C= (p.Val660=) c.2241C= (p.Val747=) c.2211C= (p.Val737=) c.1728C= (p.Val576=) c.1623C= (p.Val541=) | |
3 | g.122284165C>G | CA435424710 | CASR | c.1980C>G (p.Val660=) c.2241C>G (p.Val747=) c.2211C>G (p.Val737=) c.1728C>G (p.Val576=) c.1623C>G (p.Val541=) | |
3 | g.122284165C>T | CA435424711 | CASR | c.1980C>T (p.Val660=) c.2241C>T (p.Val747=) c.2211C>T (p.Val737=) c.1728C>T (p.Val576=) c.1623C>T (p.Val541=) | ClinVar |
3 | g.122284166A>C | CA354159051 | CASR | c.1981A>C (p.Ile661Leu) c.2242A>C (p.Ile748Leu) c.2212A>C (p.Ile738Leu) c.1729A>C (p.Ile577Leu) c.1624A>C (p.Ile542Leu) | |
3 | g.122284166A>G | CA354159053 | CASR | c.1981A>G (p.Ile661Val) c.2242A>G (p.Ile748Val) c.2212A>G (p.Ile738Val) c.1729A>G (p.Ile577Val) c.1624A>G (p.Ile542Val) | gnomAD v4 |
3 | g.122284166A>T | CA354159055 | CASR | c.1981A>T (p.Ile661Phe) c.2242A>T (p.Ile748Phe) c.2212A>T (p.Ile738Phe) c.1729A>T (p.Ile577Phe) c.1624A>T (p.Ile542Phe) | |
3 | g.122284167T>A | CA354159057 | CASR | c.1982T>A (p.Ile661Asn) c.2243T>A (p.Ile748Asn) c.2213T>A (p.Ile738Asn) c.1730T>A (p.Ile577Asn) c.1625T>A (p.Ile542Asn) | |
3 | g.122284167T>C | CA2569794 | CASR | c.1982T>C (p.Ile661Thr) c.2243T>C (p.Ile748Thr) c.2213T>C (p.Ile738Thr) c.1730T>C (p.Ile577Thr) c.1625T>C (p.Ile542Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284167T>G | CA354159059 | CASR | c.1982T>G (p.Ile661Ser) c.2243T>G (p.Ile748Ser) c.2213T>G (p.Ile738Ser) c.1730T>G (p.Ile577Ser) c.1625T>G (p.Ile542Ser) | |
3 | g.122284167T= | CA1397871801 | CASR | c.1982T= (p.Ile661=) c.2243T= (p.Ile748=) c.2213T= (p.Ile738=) c.1730T= (p.Ile577=) c.1625T= (p.Ile542=) | |
3 | g.122284168C>A | CA435424715 | CASR | c.1983C>A (p.Ile661=) c.2244C>A (p.Ile748=) c.2214C>A (p.Ile738=) c.1731C>A (p.Ile577=) c.1626C>A (p.Ile542=) | COSMIC |
3 | g.122284168C>G | CA354159061 | CASR | c.1983C>G (p.Ile661Met) c.2244C>G (p.Ile748Met) c.2214C>G (p.Ile738Met) c.1731C>G (p.Ile577Met) c.1626C>G (p.Ile542Met) | |
3 | g.122284168C>T | CA435424714 | CASR | c.1983C>T (p.Ile661=) c.2244C>T (p.Ile748=) c.2214C>T (p.Ile738=) c.1731C>T (p.Ile577=) c.1626C>T (p.Ile542=) | |
3 | g.122284169T>A | CA354159067 | CASR | c.1984T>A (p.Cys662Ser) c.2245T>A (p.Cys749Ser) c.2215T>A (p.Cys739Ser) c.1732T>A (p.Cys578Ser) c.1627T>A (p.Cys543Ser) | |
3 | g.122284169T>C | CA354159065 | CASR | c.1984T>C (p.Cys662Arg) c.2245T>C (p.Cys749Arg) c.2215T>C (p.Cys739Arg) c.1732T>C (p.Cys578Arg) c.1627T>C (p.Cys543Arg) | |
3 | g.122284169T>G | CA354159063 | CASR | c.1984T>G (p.Cys662Gly) c.2245T>G (p.Cys749Gly) c.2215T>G (p.Cys739Gly) c.1732T>G (p.Cys578Gly) c.1627T>G (p.Cys543Gly) | |
3 | g.122284170G>A | CA2569795 | CASR | c.1985G>A (p.Cys662Tyr) c.2246G>A (p.Cys749Tyr) c.2216G>A (p.Cys739Tyr) c.1733G>A (p.Cys578Tyr) c.1628G>A (p.Cys543Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284170G>C | CA354159070 | CASR | c.1985G>C (p.Cys662Ser) c.2246G>C (p.Cys749Ser) c.2216G>C (p.Cys739Ser) c.1733G>C (p.Cys578Ser) c.1628G>C (p.Cys543Ser) | ClinVar dbSNP |
3 | g.122284170G= | CA1397871802 | CASR | c.1985G= (p.Cys662=) c.2246G= (p.Cys749=) c.2216G= (p.Cys739=) c.1733G= (p.Cys578=) c.1628G= (p.Cys543=) | |
3 | g.122284170G>T | CA354159073 | CASR | c.1985G>T (p.Cys662Phe) c.2246G>T (p.Cys749Phe) c.2216G>T (p.Cys739Phe) c.1733G>T (p.Cys578Phe) c.1628G>T (p.Cys543Phe) | |
3 | g.122284171T>A | CA354159075 | CASR | c.1986T>A (p.Cys662Ter) c.2247T>A (p.Cys749Ter) c.2217T>A (p.Cys739Ter) c.1734T>A (p.Cys578Ter) c.1629T>A (p.Cys543Ter) | |
3 | g.122284171T>C | CA435424720 | CASR | c.1986T>C (p.Cys662=) c.2247T>C (p.Cys749=) c.2217T>C (p.Cys739=) c.1734T>C (p.Cys578=) c.1629T>C (p.Cys543=) | |
3 | g.122284171T>G | CA354159077 | CASR | c.1986T>G (p.Cys662Trp) c.2247T>G (p.Cys749Trp) c.2217T>G (p.Cys739Trp) c.1734T>G (p.Cys578Trp) c.1629T>G (p.Cys543Trp) | |
3 | g.122284172G>A | CA354159080 | CASR | c.1987G>A (p.Val663Met) c.2248G>A (p.Val750Met) c.2218G>A (p.Val740Met) c.1735G>A (p.Val579Met) c.1630G>A (p.Val544Met) | |
3 | g.122284172G>C | CA354159079 | CASR | c.1987G>C (p.Val663Leu) c.2248G>C (p.Val750Leu) c.2218G>C (p.Val740Leu) c.1735G>C (p.Val579Leu) c.1630G>C (p.Val544Leu) | |
3 | g.122284172G>T | CA354159078 | CASR | c.1987G>T (p.Val663Leu) c.2248G>T (p.Val750Leu) c.2218G>T (p.Val740Leu) c.1735G>T (p.Val579Leu) c.1630G>T (p.Val544Leu) | |
3 | g.122284172dup | CA2840613149 | CASR | c.1987dup (p.Val663GlyfsTer20) c.2248dup (p.Val750GlyfsTer20) c.2218dup (p.Val740GlyfsTer20) c.1735dup (p.Val579GlyfsTer20) c.1630dup (p.Val544GlyfsTer20) | |
3 | g.122284173T>A | CA354159082 | CASR | c.1988T>A (p.Val663Glu) c.2249T>A (p.Val750Glu) c.2219T>A (p.Val740Glu) c.1736T>A (p.Val579Glu) c.1631T>A (p.Val544Glu) | |
3 | g.122284173T>C | CA354159083 | CASR | c.1988T>C (p.Val663Ala) c.2249T>C (p.Val750Ala) c.2219T>C (p.Val740Ala) c.1736T>C (p.Val579Ala) c.1631T>C (p.Val544Ala) | |
3 | g.122284173T>G | CA354159084 | CASR | c.1988T>G (p.Val663Gly) c.2249T>G (p.Val750Gly) c.2219T>G (p.Val740Gly) c.1736T>G (p.Val579Gly) c.1631T>G (p.Val544Gly) | |
3 | g.122284174G>A | CA435424726 | CASR | c.1989G>A (p.Val663=) c.2250G>A (p.Val750=) c.2220G>A (p.Val740=) c.1737G>A (p.Val579=) c.1632G>A (p.Val544=) | |
3 | g.122284174G>C | CA435424724 | CASR | c.1989G>C (p.Val663=) c.2250G>C (p.Val750=) c.2220G>C (p.Val740=) c.1737G>C (p.Val579=) c.1632G>C (p.Val544=) | ClinVar |
3 | g.122284174G>T | CA435424727 | CASR | c.1989G>T (p.Val663=) c.2250G>T (p.Val750=) c.2220G>T (p.Val740=) c.1737G>T (p.Val579=) c.1632G>T (p.Val544=) | |
3 | g.122284175A>C | CA354159087 | CASR | c.1990A>C (p.Ile664Leu) c.2251A>C (p.Ile751Leu) c.2221A>C (p.Ile741Leu) c.1738A>C (p.Ile580Leu) c.1633A>C (p.Ile545Leu) | |
3 | g.122284175A>G | CA354159088 | CASR | c.1990A>G (p.Ile664Val) c.2251A>G (p.Ile751Val) c.2221A>G (p.Ile741Val) c.1738A>G (p.Ile580Val) c.1633A>G (p.Ile545Val) | |
3 | g.122284175A>T | CA354159090 | CASR | c.1990A>T (p.Ile664Phe) c.2251A>T (p.Ile751Phe) c.2221A>T (p.Ile741Phe) c.1738A>T (p.Ile580Phe) c.1633A>T (p.Ile545Phe) | |
3 | g.122284176T>A | CA354159093 | CASR | c.1991T>A (p.Ile664Asn) c.2252T>A (p.Ile751Asn) c.2222T>A (p.Ile741Asn) c.1739T>A (p.Ile580Asn) c.1634T>A (p.Ile545Asn) | |
3 | g.122284176T>C | CA354159096 | CASR | c.1991T>C (p.Ile664Thr) c.2252T>C (p.Ile751Thr) c.2222T>C (p.Ile741Thr) c.1739T>C (p.Ile580Thr) c.1634T>C (p.Ile545Thr) | |
3 | g.122284176T>G | CA354159094 | CASR | c.1991T>G (p.Ile664Ser) c.2252T>G (p.Ile751Ser) c.2222T>G (p.Ile741Ser) c.1739T>G (p.Ile580Ser) c.1634T>G (p.Ile545Ser) | |
3 | g.122284177C>A | CA435424729 | CASR | c.1992C>A (p.Ile664=) c.2253C>A (p.Ile751=) c.2223C>A (p.Ile741=) c.1740C>A (p.Ile580=) c.1635C>A (p.Ile545=) | |
3 | g.122284177C>G | CA354159098 | CASR | c.1992C>G (p.Ile664Met) c.2253C>G (p.Ile751Met) c.2223C>G (p.Ile741Met) c.1740C>G (p.Ile580Met) c.1635C>G (p.Ile545Met) | |
3 | g.122284177C>T | CA435424728 | CASR | c.1992C>T (p.Ile664=) c.2253C>T (p.Ile751=) c.2223C>T (p.Ile741=) c.1740C>T (p.Ile580=) c.1635C>T (p.Ile545=) | |
3 | g.122284178T>A | CA354159101 | CASR | c.1993T>A (p.Trp665Arg) c.2254T>A (p.Trp752Arg) c.2224T>A (p.Trp742Arg) c.1741T>A (p.Trp581Arg) c.1636T>A (p.Trp546Arg) | |
3 | g.122284178T>C | CA354159102 | CASR | c.1993T>C (p.Trp665Arg) c.2254T>C (p.Trp752Arg) c.2224T>C (p.Trp742Arg) c.1741T>C (p.Trp581Arg) c.1636T>C (p.Trp546Arg) | |
3 | g.122284178T>G | CA354159105 | CASR | c.1993T>G (p.Trp665Gly) c.2254T>G (p.Trp752Gly) c.2224T>G (p.Trp742Gly) c.1741T>G (p.Trp581Gly) c.1636T>G (p.Trp546Gly) | |
3 | g.122284179G>A | CA354159107 | CASR | c.1994G>A (p.Trp665Ter) c.2255G>A (p.Trp752Ter) c.2225G>A (p.Trp742Ter) c.1742G>A (p.Trp581Ter) c.1637G>A (p.Trp546Ter) | |
3 | g.122284179G>C | CA354159108 | CASR | c.1994G>C (p.Trp665Ser) c.2255G>C (p.Trp752Ser) c.2225G>C (p.Trp742Ser) c.1742G>C (p.Trp581Ser) c.1637G>C (p.Trp546Ser) | |
3 | g.122284179G>T | CA354159110 | CASR | c.1994G>T (p.Trp665Leu) c.2255G>T (p.Trp752Leu) c.2225G>T (p.Trp742Leu) c.1742G>T (p.Trp581Leu) c.1637G>T (p.Trp546Leu) | |
3 | g.122284180G>A | CA354159112 | CASR | c.1995G>A (p.Trp665Ter) c.2256G>A (p.Trp752Ter) c.2226G>A (p.Trp742Ter) c.1743G>A (p.Trp581Ter) c.1638G>A (p.Trp546Ter) | gnomAD v4 |
3 | g.122284180G>C | CA354159113 | CASR | c.1995G>C (p.Trp665Cys) c.2256G>C (p.Trp752Cys) c.2226G>C (p.Trp742Cys) c.1743G>C (p.Trp581Cys) c.1638G>C (p.Trp546Cys) | |
3 | g.122284180G>T | CA354159116 | CASR | c.1995G>T (p.Trp665Cys) c.2256G>T (p.Trp752Cys) c.2226G>T (p.Trp742Cys) c.1743G>T (p.Trp581Cys) c.1638G>T (p.Trp546Cys) | |
3 | g.122284181C>A | CA354159122 | CASR | c.1996C>A (p.Leu666Ile) c.2257C>A (p.Leu753Ile) c.2227C>A (p.Leu743Ile) c.1744C>A (p.Leu582Ile) c.1639C>A (p.Leu547Ile) | |
3 | g.122284181C>G | CA354159120 | CASR | c.1996C>G (p.Leu666Val) c.2257C>G (p.Leu753Val) c.2227C>G (p.Leu743Val) c.1744C>G (p.Leu582Val) c.1639C>G (p.Leu547Val) | |
3 | g.122284181C>T | CA354159118 | CASR | c.1996C>T (p.Leu666Phe) c.2257C>T (p.Leu753Phe) c.2227C>T (p.Leu743Phe) c.1744C>T (p.Leu582Phe) c.1639C>T (p.Leu547Phe) | |
3 | g.122284182T>A | CA354159123 | CASR | c.1997T>A (p.Leu666His) c.2258T>A (p.Leu753His) c.2228T>A (p.Leu743His) c.1745T>A (p.Leu582His) c.1640T>A (p.Leu547His) | |
3 | g.122284182T>C | CA354159127 | CASR | c.1997T>C (p.Leu666Pro) c.2258T>C (p.Leu753Pro) c.2228T>C (p.Leu743Pro) c.1745T>C (p.Leu582Pro) c.1640T>C (p.Leu547Pro) | |
3 | g.122284182T>G | CA354159125 | CASR | c.1997T>G (p.Leu666Arg) c.2258T>G (p.Leu753Arg) c.2228T>G (p.Leu743Arg) c.1745T>G (p.Leu582Arg) c.1640T>G (p.Leu547Arg) | |
3 | g.122284183C>A | CA435424732 | CASR | c.1998C>A (p.Leu666=) c.2259C>A (p.Leu753=) c.2229C>A (p.Leu743=) c.1746C>A (p.Leu582=) c.1641C>A (p.Leu547=) | |
3 | g.122284183C= | CA1397871803 | CASR | c.1998C= (p.Leu666=) c.2259C= (p.Leu753=) c.2229C= (p.Leu743=) c.1746C= (p.Leu582=) c.1641C= (p.Leu547=) | |
3 | g.122284183C>G | CA435424733 | CASR | c.1998C>G (p.Leu666=) c.2259C>G (p.Leu753=) c.2229C>G (p.Leu743=) c.1746C>G (p.Leu582=) c.1641C>G (p.Leu547=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284183C>T | CA82748819 | CASR | c.1998C>T (p.Leu666=) c.2259C>T (p.Leu753=) c.2229C>T (p.Leu743=) c.1746C>T (p.Leu582=) c.1641C>T (p.Leu547=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284183_122284184insAA | CA2542307779 | CASR | c.1998_1999insAA (p.Tyr667AsnfsTer?) c.2259_2260insAA (p.Tyr754AsnfsTer?) c.2229_2230insAA (p.Tyr744AsnfsTer?) c.1746_1747insAA (p.Tyr583AsnfsTer?) c.1641_1642insAA (p.Tyr548AsnfsTer?) | |
3 | g.122284184T>A | CA354159130 | CASR | c.1999T>A (p.Tyr667Asn) c.2260T>A (p.Tyr754Asn) c.2230T>A (p.Tyr744Asn) c.1747T>A (p.Tyr583Asn) c.1642T>A (p.Tyr548Asn) | |
3 | g.122284184T>C | CA354159132 | CASR | c.1999T>C (p.Tyr667His) c.2260T>C (p.Tyr754His) c.2230T>C (p.Tyr744His) c.1747T>C (p.Tyr583His) c.1642T>C (p.Tyr548His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284184T>G | CA354159134 | CASR | c.1999T>G (p.Tyr667Asp) c.2260T>G (p.Tyr754Asp) c.2230T>G (p.Tyr744Asp) c.1747T>G (p.Tyr583Asp) c.1642T>G (p.Tyr548Asp) | |
3 | g.122284184T= | CA1397871805 | CASR | c.1999T= (p.Tyr667=) c.2260T= (p.Tyr754=) c.2230T= (p.Tyr744=) c.1747T= (p.Tyr583=) c.1642T= (p.Tyr548=) | |
3 | g.122284185A= | CA1397871806 | CASR | c.2000A= (p.Tyr667=) c.2261A= (p.Tyr754=) c.2231A= (p.Tyr744=) c.1748A= (p.Tyr583=) c.1643A= (p.Tyr548=) | |
3 | g.122284185A>C | CA354159136 | CASR | c.2000A>C (p.Tyr667Ser) c.2261A>C (p.Tyr754Ser) c.2231A>C (p.Tyr744Ser) c.1748A>C (p.Tyr583Ser) c.1643A>C (p.Tyr548Ser) | gnomAD v4 |
3 | g.122284185A>G | CA354159138 | CASR | c.2000A>G (p.Tyr667Cys) c.2261A>G (p.Tyr754Cys) c.2231A>G (p.Tyr744Cys) c.1748A>G (p.Tyr583Cys) c.1643A>G (p.Tyr548Cys) | |
3 | g.122284185A>T | CA2569796 | CASR | c.2000A>T (p.Tyr667Phe) c.2261A>T (p.Tyr754Phe) c.2231A>T (p.Tyr744Phe) c.1748A>T (p.Tyr583Phe) c.1643A>T (p.Tyr548Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284186C>A | CA354159141 | CASR | c.2001C>A (p.Tyr667Ter) c.2262C>A (p.Tyr754Ter) c.2232C>A (p.Tyr744Ter) c.1749C>A (p.Tyr583Ter) c.1644C>A (p.Tyr548Ter) | |
3 | g.122284186C>G | CA354159142 | CASR | c.2001C>G (p.Tyr667Ter) c.2262C>G (p.Tyr754Ter) c.2232C>G (p.Tyr744Ter) c.1749C>G (p.Tyr583Ter) c.1644C>G (p.Tyr548Ter) | |
3 | g.122284186C>T | CA435424735 | CASR | c.2001C>T (p.Tyr667=) c.2262C>T (p.Tyr754=) c.2232C>T (p.Tyr744=) c.1749C>T (p.Tyr583=) c.1644C>T (p.Tyr548=) | ClinVar |
3 | g.122284187A>C | CA354159145 | CASR | c.2002A>C (p.Thr668Pro) c.2263A>C (p.Thr755Pro) c.2233A>C (p.Thr745Pro) c.1750A>C (p.Thr584Pro) c.1645A>C (p.Thr549Pro) | |
3 | g.122284187A>G | CA354159147 | CASR | c.2002A>G (p.Thr668Ala) c.2263A>G (p.Thr755Ala) c.2233A>G (p.Thr745Ala) c.1750A>G (p.Thr584Ala) c.1645A>G (p.Thr549Ala) | gnomAD v4 |
3 | g.122284187A>T | CA354159150 | CASR | c.2002A>T (p.Thr668Ser) c.2263A>T (p.Thr755Ser) c.2233A>T (p.Thr745Ser) c.1750A>T (p.Thr584Ser) c.1645A>T (p.Thr549Ser) | |
3 | g.122284188C>A | CA354159152 | CASR | c.2003C>A (p.Thr668Asn) c.2264C>A (p.Thr755Asn) c.2234C>A (p.Thr745Asn) c.1751C>A (p.Thr584Asn) c.1646C>A (p.Thr549Asn) | ClinVar |
3 | g.122284188C>G | CA354159154 | CASR | c.2003C>G (p.Thr668Ser) c.2264C>G (p.Thr755Ser) c.2234C>G (p.Thr745Ser) c.1751C>G (p.Thr584Ser) c.1646C>G (p.Thr549Ser) | |
3 | g.122284188C>T | CA354159153 | CASR | c.2003C>T (p.Thr668Ile) c.2264C>T (p.Thr755Ile) c.2234C>T (p.Thr745Ile) c.1751C>T (p.Thr584Ile) c.1646C>T (p.Thr549Ile) | ClinVar gnomAD v4 |
3 | g.122284188_122284189del | CA2569797172 | CASR | c.2003_2004del (p.Thr668SerfsTer14) c.2264_2265del (p.Thr755SerfsTer14) c.2234_2235del (p.Thr745SerfsTer14) c.1751_1752del (p.Thr584SerfsTer14) c.1646_1647del (p.Thr549SerfsTer14) | |
3 | g.122284189C>A | CA435424738 | CASR | c.2004C>A (p.Thr668=) c.2265C>A (p.Thr755=) c.2235C>A (p.Thr745=) c.1752C>A (p.Thr584=) c.1647C>A (p.Thr549=) | dbSNP |
3 | g.122284189C= | CA1397871807 | CASR | c.2004C= (p.Thr668=) c.2265C= (p.Thr755=) c.2235C= (p.Thr745=) c.1752C= (p.Thr584=) c.1647C= (p.Thr549=) | |
3 | g.122284189C>G | CA2569797 | CASR | c.2004C>G (p.Thr668=) c.2265C>G (p.Thr755=) c.2235C>G (p.Thr745=) c.1752C>G (p.Thr584=) c.1647C>G (p.Thr549=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284189C>T | CA2569798 | CASR | c.2004C>T (p.Thr668=) c.2265C>T (p.Thr755=) c.2235C>T (p.Thr745=) c.1752C>T (p.Thr584=) c.1647C>T (p.Thr549=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.122284190G>A | CA2569799 | CASR | c.2005G>A (p.Ala669Thr) c.2266G>A (p.Ala756Thr) c.2236G>A (p.Ala746Thr) c.1753G>A (p.Ala585Thr) c.1648G>A (p.Ala550Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284190G>C | CA354159155 | CASR | c.2005G>C (p.Ala669Pro) c.2266G>C (p.Ala756Pro) c.2236G>C (p.Ala746Pro) c.1753G>C (p.Ala585Pro) c.1648G>C (p.Ala550Pro) | |
3 | g.122284190G= | CA1397871808 | CASR | c.2005G= (p.Ala669=) c.2266G= (p.Ala756=) c.2236G= (p.Ala746=) c.1753G= (p.Ala585=) c.1648G= (p.Ala550=) | |
3 | g.122284190G>T | CA354159156 | CASR | c.2005G>T (p.Ala669Ser) c.2266G>T (p.Ala756Ser) c.2236G>T (p.Ala746Ser) c.1753G>T (p.Ala585Ser) c.1648G>T (p.Ala550Ser) | gnomAD v4 |
3 | g.122284191C>A | CA354159157 | CASR | c.2006C>A (p.Ala669Glu) c.2267C>A (p.Ala756Glu) c.2237C>A (p.Ala746Glu) c.1754C>A (p.Ala585Glu) c.1649C>A (p.Ala550Glu) | |
3 | g.122284191C= | CA1397871809 | CASR | c.2006C= (p.Ala669=) c.2267C= (p.Ala756=) c.2237C= (p.Ala746=) c.1754C= (p.Ala585=) c.1649C= (p.Ala550=) | |
3 | g.122284191C>G | CA354159158 | CASR | c.2006C>G (p.Ala669Gly) c.2267C>G (p.Ala756Gly) c.2237C>G (p.Ala746Gly) c.1754C>G (p.Ala585Gly) c.1649C>G (p.Ala550Gly) | |
3 | g.122284191C>T | CA2569800 | CASR | c.2006C>T (p.Ala669Val) c.2267C>T (p.Ala756Val) c.2237C>T (p.Ala746Val) c.1754C>T (p.Ala585Val) c.1649C>T (p.Ala550Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284192G>A | CA2569801 | CASR | c.2007G>A (p.Ala669=) c.2268G>A (p.Ala756=) c.2238G>A (p.Ala746=) c.1755G>A (p.Ala585=) c.1650G>A (p.Ala550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284192G>C | CA435424745 | CASR | c.2007G>C (p.Ala669=) c.2268G>C (p.Ala756=) c.2238G>C (p.Ala746=) c.1755G>C (p.Ala585=) c.1650G>C (p.Ala550=) | ClinVar |
3 | g.122284192G= | CA1397871823 | CASR | c.2007G= (p.Ala669=) c.2268G= (p.Ala756=) c.2238G= (p.Ala746=) c.1755G= (p.Ala585=) c.1650G= (p.Ala550=) | |
3 | g.122284192G>T | CA2569802 | CASR | c.2007G>T (p.Ala669=) c.2268G>T (p.Ala756=) c.2238G>T (p.Ala746=) c.1755G>T (p.Ala585=) c.1650G>T (p.Ala550=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284193C>A | CA354159160 | CASR | c.2008C>A (p.Pro670Thr) c.2269C>A (p.Pro757Thr) c.2239C>A (p.Pro747Thr) c.1756C>A (p.Pro586Thr) c.1651C>A (p.Pro551Thr) | gnomAD v4 |
3 | g.122284193C= | CA1397871824 | CASR | c.2008C= (p.Pro670=) c.2269C= (p.Pro757=) c.2239C= (p.Pro747=) c.1756C= (p.Pro586=) c.1651C= (p.Pro551=) | |
3 | g.122284193C>G | CA354159161 | CASR | c.2008C>G (p.Pro670Ala) c.2269C>G (p.Pro757Ala) c.2239C>G (p.Pro747Ala) c.1756C>G (p.Pro586Ala) c.1651C>G (p.Pro551Ala) | ClinVar dbSNP |
3 | g.122284193C>T | CA354159159 | CASR | c.2008C>T (p.Pro670Ser) c.2269C>T (p.Pro757Ser) c.2239C>T (p.Pro747Ser) c.1756C>T (p.Pro586Ser) c.1651C>T (p.Pro551Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284193_122284194delinsT | CA2586972867 | CASR | c.2008_2009delinsT (p.Pro670SerfsTer30) c.2269_2270delinsT (p.Pro757SerfsTer30) c.2239_2240delinsT (p.Pro747SerfsTer30) c.1756_1757delinsT (p.Pro586SerfsTer30) c.1651_1652delinsT (p.Pro551SerfsTer30) | |
3 | g.122284197dup | CA545962752 | CASR | c.2012dup (p.Ser672ValfsTer11) c.2273dup (p.Ser759ValfsTer11) c.2243dup (p.Ser749ValfsTer11) c.2243dup (p.Ser749LeufsTer11) c.2273dup (p.Ser759LeufsTer11) c.1760dup (p.Ser588ValfsTer11) c.1655dup (p.Ser553ValfsTer11) | gnomAD v2 gnomAD v4 |
3 | g.122284194C>A | CA354159162 | CASR | c.2009C>A (p.Pro670His) c.2270C>A (p.Pro757His) c.2240C>A (p.Pro747His) c.1757C>A (p.Pro586His) c.1652C>A (p.Pro551His) | |
3 | g.122284194C>G | CA354159163 | CASR | c.2009C>G (p.Pro670Arg) c.2270C>G (p.Pro757Arg) c.2240C>G (p.Pro747Arg) c.1757C>G (p.Pro586Arg) c.1652C>G (p.Pro551Arg) | ClinVar |
3 | g.122284194C>T | CA354159164 | CASR | c.2009C>T (p.Pro670Leu) c.2270C>T (p.Pro757Leu) c.2240C>T (p.Pro747Leu) c.1757C>T (p.Pro586Leu) c.1652C>T (p.Pro551Leu) | COSMIC |
3 | g.122284194_122284196delinsCCC | CA1397871827 | CASR | c.2009_2011delinsCCC (p.Pro670=) c.2270_2272delinsCCC (p.Pro757=) c.2240_2242delinsCCC (p.Pro747=) c.1757_1759delinsCCC (p.Pro586=) c.1652_1654delinsCCC (p.Pro551=) | |
3 | g.122284195C>A | CA435424753 | CASR | c.2010C>A (p.Pro670=) c.2271C>A (p.Pro757=) c.2241C>A (p.Pro747=) c.1758C>A (p.Pro586=) c.1653C>A (p.Pro551=) | dbSNP gnomAD v4 |
3 | g.122284195C= | CA1397871831 | CASR | c.2010C= (p.Pro670=) c.2271C= (p.Pro757=) c.2241C= (p.Pro747=) c.1758C= (p.Pro586=) c.1653C= (p.Pro551=) | |
3 | g.122284195C>G | CA435424750 | CASR | c.2010C>G (p.Pro670=) c.2271C>G (p.Pro757=) c.2241C>G (p.Pro747=) c.1758C>G (p.Pro586=) c.1653C>G (p.Pro551=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284195C>T | CA435424755 | CASR | c.2010C>T (p.Pro670=) c.2271C>T (p.Pro757=) c.2241C>T (p.Pro747=) c.1758C>T (p.Pro586=) c.1653C>T (p.Pro551=) | gnomAD v4 |
3 | g.122284195_122284196delinsT | CA351387 | CASR | c.2010_2011delinsT (p.Pro671ArgfsTer29) c.2271_2272delinsT (p.Pro758ArgfsTer29) c.2241_2242delinsT (p.Pro748ArgfsTer29) c.2241_2242delinsT (p.Ser749GlnfsTer28) c.2271_2272delinsT (p.Ser759GlnfsTer28) c.1758_1759delinsT (p.Pro587ArgfsTer29) c.1653_1654delinsT (p.Pro552ArgfsTer29) | ClinVar dbSNP |
3 | g.122284196C>A | CA354159165 | CASR | c.2011C>A (p.Pro671Thr) c.2272C>A (p.Pro758Thr) c.2242C>A (p.Pro748Thr) c.1759C>A (p.Pro587Thr) c.1654C>A (p.Pro552Thr) | |
3 | g.122284196C= | CA1397871839 | CASR | c.2011C= (p.Pro671=) c.2272C= (p.Pro758=) c.2242C= (p.Pro748=) c.1759C= (p.Pro587=) c.1654C= (p.Pro552=) | |
3 | g.122284196C>G | CA354159166 | CASR | c.2011C>G (p.Pro671Ala) c.2272C>G (p.Pro758Ala) c.2242C>G (p.Pro748Ala) c.1759C>G (p.Pro587Ala) c.1654C>G (p.Pro552Ala) | dbSNP |
3 | g.122284196C>T | CA354159167 | CASR | c.2011C>T (p.Pro671Ser) c.2272C>T (p.Pro758Ser) c.2242C>T (p.Pro748Ser) c.1759C>T (p.Pro587Ser) c.1654C>T (p.Pro552Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122284196_122284197insG | CA82748855 | CASR | c.2011_2012insG (p.Pro671ArgfsTer12) c.2272_2273insG (p.Pro758ArgfsTer12) c.2242_2243insG (p.Pro748ArgfsTer12) c.1759_1760insG (p.Pro587ArgfsTer12) c.1654_1655insG (p.Pro552ArgfsTer12) | |
3 | g.122284197C>A | CA213582 | CASR | c.2012C>A (p.Pro671Gln) c.2273C>A (p.Pro758Gln) c.2243C>A (p.Pro748Gln) c.2243C>A (p.Pro748His) c.2273C>A (p.Pro758His) c.1760C>A (p.Pro587Gln) c.1655C>A (p.Pro552Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.122284197C= | CA1397871864 | CASR | c.2012C= (p.Pro671=) c.2273C= (p.Pro758=) c.2243C= (p.Pro748=) c.1760C= (p.Pro587=) c.1655C= (p.Pro552=) | |
3 | g.122284197C>G | CA354159168 | CASR | c.2012C>G (p.Pro671Arg) c.2273C>G (p.Pro758Arg) c.2243C>G (p.Pro748Arg) c.1760C>G (p.Pro587Arg) c.1655C>G (p.Pro552Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.122284197C>T | CA354159169 | CASR | c.2012C>T (p.Pro671Leu) c.2273C>T (p.Pro758Leu) c.2243C>T (p.Pro748Leu) c.1760C>T (p.Pro587Leu) c.1655C>T (p.Pro552Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.122284197_122284198delinsAC | CA213581 | CASR | c.2012_2013delinsAC (p.Pro671His) c.2273_2274delinsAC (p.Pro758His) c.2243_2244delinsAC (p.Pro748His) c.1760_1761delinsAC (p.Pro587His) c.1655_1656delinsAC (p.Pro552His) | |
3 | g.122284197_122284198delinsCG | CA1397871858 | CASR | c.2012_2013delinsCG (p.Pro671=) c.2273_2274delinsCG (p.Pro758=) c.2243_2244delinsCG (p.Pro748=) c.1760_1761delinsCG (p.Pro587=) c.1655_1656delinsCG (p.Pro552=) | |
3 | g.122284198del | CA435424761 | CASR | c.2013del (p.Ser672GlnfsTer28) c.2274del (p.Ser759GlnfsTer28) c.2244del (p.Ser749GlnfsTer28) c.1761del (p.Ser588GlnfsTer28) c.1656del (p.Ser553GlnfsTer28) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284198G>A | CA435424757 | CASR | c.2013G>A (p.Pro671=) c.2274G>A (p.Pro758=) c.2244G>A (p.Pro748=) c.1761G>A (p.Pro587=) c.1656G>A (p.Pro552=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284198G>C | CA179844 | CASR | c.2013G>C (p.Pro671=) c.2274G>C (p.Pro758=) c.2244G>C (p.Pro748=) c.1761G>C (p.Pro587=) c.1656G>C (p.Pro552=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284198G= | CA10582122 | CASR | c.2013G= (p.Pro671=) c.2274G= (p.Pro758=) c.2244G= (p.Pro748=) c.1761G= (p.Pro587=) c.1656G= (p.Pro552=) | |
3 | g.122284198G>T | CA435424760 | CASR | c.2013G>T (p.Pro671=) c.2274G>T (p.Pro758=) c.2244G>T (p.Pro748=) c.1761G>T (p.Pro587=) c.1656G>T (p.Pro552=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284198delinsCC | CA915941532 | CASR | c.2013delinsCC (p.Ser672LeufsTer11) c.2274delinsCC (p.Ser759LeufsTer11) c.2244delinsCC (p.Ser749LeufsTer11) c.1761delinsCC (p.Ser588LeufsTer11) c.1656delinsCC (p.Ser553LeufsTer11) | ClinVar dbSNP |
3 | g.122284198dup | CA658657330 | CASR | c.2013dup (p.Ser672ValfsTer11) c.2274dup (p.Ser759ValfsTer11) c.2244dup (p.Ser749ValfsTer11) c.1761dup (p.Ser588ValfsTer11) c.1656dup (p.Ser553ValfsTer11) | dbSNP |
3 | g.122284198_122284199delinsCG | CA2573136461 | CASR | c.2013_2014delinsCG (p.Ser672Ala) c.2274_2275delinsCG (p.Ser759Ala) c.2244_2245delinsCG (p.Ser749Ala) c.1761_1762delinsCG (p.Ser588Ala) c.1656_1657delinsCG (p.Ser553Ala) | ClinVar dbSNP |
3 | g.122284199T>A | CA354159171 | CASR | c.2014T>A (p.Ser672Thr) c.2275T>A (p.Ser759Thr) c.2245T>A (p.Ser749Thr) c.1762T>A (p.Ser588Thr) c.1657T>A (p.Ser553Thr) | |
3 | g.122284199T>C | CA354159170 | CASR | c.2014T>C (p.Ser672Pro) c.2275T>C (p.Ser759Pro) c.2245T>C (p.Ser749Pro) c.1762T>C (p.Ser588Pro) c.1657T>C (p.Ser553Pro) | |
3 | g.122284199T>G | CA2569803 | CASR | c.2014T>G (p.Ser672Ala) c.2275T>G (p.Ser759Ala) c.2245T>G (p.Ser749Ala) c.1762T>G (p.Ser588Ala) c.1657T>G (p.Ser553Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284199T= | CA1397871886 | CASR | c.2014T= (p.Ser672=) c.2275T= (p.Ser759=) c.2245T= (p.Ser749=) c.1762T= (p.Ser588=) c.1657T= (p.Ser553=) | |
3 | g.122284199_122284200del | CA1052944786 | CASR | c.2014_2015del (p.Ser672LysfsTer10) c.2275_2276del (p.Ser759LysfsTer10) c.2245_2246del (p.Ser749LysfsTer10) c.1762_1763del (p.Ser588LysfsTer10) c.1657_1658del (p.Ser553LysfsTer10) | gnomAD v3 gnomAD v4 |
3 | g.122284200C>A | CA354159172 | CASR | c.2015C>A (p.Ser672Ter) c.2276C>A (p.Ser759Ter) c.2246C>A (p.Ser749Ter) c.1763C>A (p.Ser588Ter) c.1658C>A (p.Ser553Ter) | |
3 | g.122284200C>G | CA354159173 | CASR | c.2015C>G (p.Ser672Ter) c.2276C>G (p.Ser759Ter) c.2246C>G (p.Ser749Ter) c.1763C>G (p.Ser588Ter) c.1658C>G (p.Ser553Ter) | |
3 | g.122284200C>T | CA354159174 | CASR | c.2015C>T (p.Ser672Leu) c.2276C>T (p.Ser759Leu) c.2246C>T (p.Ser749Leu) c.1763C>T (p.Ser588Leu) c.1658C>T (p.Ser553Leu) | |
3 | g.122284201A= | CA1397871888 | CASR | c.2016A= (p.Ser672=) c.2277A= (p.Ser759=) c.2247A= (p.Ser749=) c.1764A= (p.Ser588=) c.1659A= (p.Ser553=) | |
3 | g.122284201A>C | CA435424767 | CASR | c.2016A>C (p.Ser672=) c.2277A>C (p.Ser759=) c.2247A>C (p.Ser749=) c.1764A>C (p.Ser588=) c.1659A>C (p.Ser553=) | ClinVar dbSNP |
3 | g.122284201A>G | CA2569804 | CASR | c.2016A>G (p.Ser672=) c.2277A>G (p.Ser759=) c.2247A>G (p.Ser749=) c.1764A>G (p.Ser588=) c.1659A>G (p.Ser553=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122284201A>T | CA435424768 | CASR | c.2016A>T (p.Ser672=) c.2277A>T (p.Ser759=) c.2247A>T (p.Ser749=) c.1764A>T (p.Ser588=) c.1659A>T (p.Ser553=) | |
3 | g.122284202A>C | CA354159175 | CASR | c.2017A>C (p.Ser673Arg) c.2278A>C (p.Ser760Arg) c.2248A>C (p.Ser750Arg) c.1765A>C (p.Ser589Arg) c.1660A>C (p.Ser554Arg) | |
3 | g.122284202A>G | CA354159176 | CASR | c.2017A>G (p.Ser673Gly) c.2278A>G (p.Ser760Gly) c.2248A>G (p.Ser750Gly) c.1765A>G (p.Ser589Gly) c.1660A>G (p.Ser554Gly) | ClinVar |
3 | g.122284202A>T | CA354159177 | CASR | c.2017A>T (p.Ser673Cys) c.2278A>T (p.Ser760Cys) c.2248A>T (p.Ser750Cys) c.1765A>T (p.Ser589Cys) c.1660A>T (p.Ser554Cys) | |
3 | g.122284203G>A | CA354159178 | CASR | c.2018G>A (p.Ser673Asn) c.2279G>A (p.Ser760Asn) c.2249G>A (p.Ser750Asn) c.1766G>A (p.Ser589Asn) c.1661G>A (p.Ser554Asn) | |
3 | g.122284203G>C | CA354159179 | CASR | c.2018G>C (p.Ser673Thr) c.2279G>C (p.Ser760Thr) c.2249G>C (p.Ser750Thr) c.1766G>C (p.Ser589Thr) c.1661G>C (p.Ser554Thr) | |
3 | g.122284203G>T | CA354159180 | CASR | c.2018G>T (p.Ser673Ile) c.2279G>T (p.Ser760Ile) c.2249G>T (p.Ser750Ile) c.1766G>T (p.Ser589Ile) c.1661G>T (p.Ser554Ile) | |
3 | g.122284204C>A | CA354159181 | CASR | c.2019C>A (p.Ser673Arg) c.2280C>A (p.Ser760Arg) c.2250C>A (p.Ser750Arg) c.1767C>A (p.Ser589Arg) c.1662C>A (p.Ser554Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.122284204C= | CA1397871895 | CASR | c.2019C= (p.Ser673=) c.2280C= (p.Ser760=) c.2250C= (p.Ser750=) c.1767C= (p.Ser589=) c.1662C= (p.Ser554=) | |
3 | g.122284204C>G | CA354159182 | CASR | c.2019C>G (p.Ser673Arg) c.2280C>G (p.Ser760Arg) c.2250C>G (p.Ser750Arg) c.1767C>G (p.Ser589Arg) c.1662C>G (p.Ser554Arg) | |
3 | g.122284204C>T | CA435424772 | CASR | c.2019C>T (p.Ser673=) c.2280C>T (p.Ser760=) c.2250C>T (p.Ser750=) c.1767C>T (p.Ser589=) c.1662C>T (p.Ser554=) | ClinVar dbSNP |
3 | g.122284205T>A | CA354159185 | CASR | c.2020T>A (p.Tyr674Asn) c.2281T>A (p.Tyr761Asn) c.2251T>A (p.Tyr751Asn) c.1768T>A (p.Tyr590Asn) c.1663T>A (p.Tyr555Asn) | |
3 | g.122284205T>C | CA354159184 | CASR | c.2020T>C (p.Tyr674His) c.2281T>C (p.Tyr761His) c.2251T>C (p.Tyr751His) c.1768T>C (p.Tyr590His) c.1663T>C (p.Tyr555His) | |
3 | g.122284205T>G | CA354159183 | CASR | c.2020T>G (p.Tyr674Asp) c.2281T>G (p.Tyr761Asp) c.2251T>G (p.Tyr751Asp) c.1768T>G (p.Tyr590Asp) c.1663T>G (p.Tyr555Asp) | |
3 | g.122284206A>C | CA354159186 | CASR | c.2021A>C (p.Tyr674Ser) c.2282A>C (p.Tyr761Ser) c.2252A>C (p.Tyr751Ser) c.1769A>C (p.Tyr590Ser) c.1664A>C (p.Tyr555Ser) | |
3 | g.122284206A>G | CA354159188 | CASR | c.2021A>G (p.Tyr674Cys) c.2282A>G (p.Tyr761Cys) c.2252A>G (p.Tyr751Cys) c.1769A>G (p.Tyr590Cys) c.1664A>G (p.Tyr555Cys) | COSMIC |
3 | g.122284206A>T | CA354159187 | CASR | c.2021A>T (p.Tyr674Phe) c.2282A>T (p.Tyr761Phe) c.2252A>T (p.Tyr751Phe) c.1769A>T (p.Tyr590Phe) c.1664A>T (p.Tyr555Phe) | |
3 | g.122284207C>A | CA354159189 | CASR | c.2022C>A (p.Tyr674Ter) c.2283C>A (p.Tyr761Ter) c.2253C>A (p.Tyr751Ter) c.1770C>A (p.Tyr590Ter) c.1665C>A (p.Tyr555Ter) | |
3 | g.122284207C= | CA1397871897 | CASR | c.2022C= (p.Tyr674=) c.2283C= (p.Tyr761=) c.2253C= (p.Tyr751=) c.1770C= (p.Tyr590=) c.1665C= (p.Tyr555=) | |
3 | g.122284207C>G | CA354159190 | CASR | c.2022C>G (p.Tyr674Ter) c.2283C>G (p.Tyr761Ter) c.2253C>G (p.Tyr751Ter) c.1770C>G (p.Tyr590Ter) c.1665C>G (p.Tyr555Ter) | |
3 | g.122284207C>T | CA435424775 | CASR | c.2022C>T (p.Tyr674=) c.2283C>T (p.Tyr761=) c.2253C>T (p.Tyr751=) c.1770C>T (p.Tyr590=) c.1665C>T (p.Tyr555=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284208del | CA2499216412 | CASR | c.2023del (p.Arg675AlafsTer25) c.2284del (p.Arg762AlafsTer25) c.2254del (p.Arg752AlafsTer25) c.1771del (p.Arg591AlafsTer25) c.1666del (p.Arg556AlafsTer25) | ClinVar dbSNP |
3 | g.122284208C>A | CA354159191 | CASR | c.2023C>A (p.Arg675Ser) c.2284C>A (p.Arg762Ser) c.2254C>A (p.Arg752Ser) c.1771C>A (p.Arg591Ser) c.1666C>A (p.Arg556Ser) | ClinVar dbSNP |
3 | g.122284208C= | CA1397871904 | CASR | c.2023C= (p.Arg675=) c.2284C= (p.Arg762=) c.2254C= (p.Arg752=) c.1771C= (p.Arg591=) c.1666C= (p.Arg556=) | |
3 | g.122284208C>G | CA354159192 | CASR | c.2023C>G (p.Arg675Gly) c.2284C>G (p.Arg762Gly) c.2254C>G (p.Arg752Gly) c.1771C>G (p.Arg591Gly) c.1666C>G (p.Arg556Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284208C>T | CA213584 | CASR | c.2023C>T (p.Arg675Cys) c.2284C>T (p.Arg762Cys) c.2254C>T (p.Arg752Cys) c.1771C>T (p.Arg591Cys) c.1666C>T (p.Arg556Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.122284209G>A | CA2569805 | CASR | c.2024G>A (p.Arg675His) c.2285G>A (p.Arg762His) c.2255G>A (p.Arg752His) c.1772G>A (p.Arg591His) c.1667G>A (p.Arg556His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284209G>C | CA354159193 | CASR | c.2024G>C (p.Arg675Pro) c.2285G>C (p.Arg762Pro) c.2255G>C (p.Arg752Pro) c.1772G>C (p.Arg591Pro) c.1667G>C (p.Arg556Pro) | ClinVar dbSNP gnomAD v4 |
3 | g.122284209G= | CA1397871911 | CASR | c.2024G= (p.Arg675=) c.2285G= (p.Arg762=) c.2255G= (p.Arg752=) c.1772G= (p.Arg591=) c.1667G= (p.Arg556=) | |
3 | g.122284209G>T | CA354159194 | CASR | c.2024G>T (p.Arg675Leu) c.2285G>T (p.Arg762Leu) c.2255G>T (p.Arg752Leu) c.1772G>T (p.Arg591Leu) c.1667G>T (p.Arg556Leu) | gnomAD v4 |
3 | g.122284210C>A | CA435424776 | CASR | c.2025C>A (p.Arg675=) c.2286C>A (p.Arg762=) c.2256C>A (p.Arg752=) c.1773C>A (p.Arg591=) c.1668C>A (p.Arg556=) | ClinVar dbSNP |
3 | g.122284210C= | CA1397871913 | CASR | c.2025C= (p.Arg675=) c.2286C= (p.Arg762=) c.2256C= (p.Arg752=) c.1773C= (p.Arg591=) c.1668C= (p.Arg556=) | |
3 | g.122284210C>G | CA82748889 | CASR | c.2025C>G (p.Arg675=) c.2286C>G (p.Arg762=) c.2256C>G (p.Arg752=) c.1773C>G (p.Arg591=) c.1668C>G (p.Arg556=) | dbSNP |
3 | g.122284210C>T | CA435424777 | CASR | c.2025C>T (p.Arg675=) c.2286C>T (p.Arg762=) c.2256C>T (p.Arg752=) c.1773C>T (p.Arg591=) c.1668C>T (p.Arg556=) | |
3 | g.122284211A>C | CA354159195 | CASR | c.2026A>C (p.Asn676His) c.2287A>C (p.Asn763His) c.2257A>C (p.Asn753His) c.1774A>C (p.Asn592His) c.1669A>C (p.Asn557His) | |
3 | g.122284211A>G | CA354159196 | CASR | c.2026A>G (p.Asn676Asp) c.2287A>G (p.Asn763Asp) c.2257A>G (p.Asn753Asp) c.1774A>G (p.Asn592Asp) c.1669A>G (p.Asn557Asp) | |
3 | g.122284211A>T | CA354159197 | CASR | c.2026A>T (p.Asn676Tyr) c.2287A>T (p.Asn763Tyr) c.2257A>T (p.Asn753Tyr) c.1774A>T (p.Asn592Tyr) c.1669A>T (p.Asn557Tyr) | |
3 | g.122284212A= | CA1397871920 | CASR | c.2027A= (p.Asn676=) c.2288A= (p.Asn763=) c.2258A= (p.Asn753=) c.1775A= (p.Asn592=) c.1670A= (p.Asn557=) | |
3 | g.122284212A>C | CA354159200 | CASR | c.2027A>C (p.Asn676Thr) c.2288A>C (p.Asn763Thr) c.2258A>C (p.Asn753Thr) c.1775A>C (p.Asn592Thr) c.1670A>C (p.Asn557Thr) | |
3 | g.122284212A>G | CA354159199 | CASR | c.2027A>G (p.Asn676Ser) c.2288A>G (p.Asn763Ser) c.2258A>G (p.Asn753Ser) c.1775A>G (p.Asn592Ser) c.1670A>G (p.Asn557Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284212A>T | CA354159198 | CASR | c.2027A>T (p.Asn676Ile) c.2288A>T (p.Asn763Ile) c.2258A>T (p.Asn753Ile) c.1775A>T (p.Asn592Ile) c.1670A>T (p.Asn557Ile) | gnomAD v4 |
3 | g.122284212_122284213delinsAC | CA1397871923 | CASR | c.2027_2028delinsAC (p.Asn676=) c.2288_2289delinsAC (p.Asn763=) c.2258_2259delinsAC (p.Asn753=) c.1775_1776delinsAC (p.Asn592=) c.1670_1671delinsAC (p.Asn557=) | |
3 | g.122284213C>A | CA354159201 | CASR | c.2028C>A (p.Asn676Lys) c.2289C>A (p.Asn763Lys) c.2259C>A (p.Asn753Lys) c.1776C>A (p.Asn592Lys) c.1671C>A (p.Asn557Lys) | |
3 | g.122284213C>G | CA354159202 | CASR | c.2028C>G (p.Asn676Lys) c.2289C>G (p.Asn763Lys) c.2259C>G (p.Asn753Lys) c.1776C>G (p.Asn592Lys) c.1671C>G (p.Asn557Lys) | |
3 | g.122284213C>T | CA435424783 | CASR | c.2028C>T (p.Asn676=) c.2289C>T (p.Asn763=) c.2259C>T (p.Asn753=) c.1776C>T (p.Asn592=) c.1671C>T (p.Asn557=) | gnomAD v4 |
3 | g.122284214del | CA1397871925 | CASR | c.2029del (p.Gln677ArgfsTer23) c.2290del (p.Gln764ArgfsTer23) c.2260del (p.Gln754ArgfsTer23) c.1777del (p.Gln593ArgfsTer23) c.1672del (p.Gln558ArgfsTer23) | dbSNP |
3 | g.122284214C>A | CA354159203 | CASR | c.2029C>A (p.Gln677Lys) c.2290C>A (p.Gln764Lys) c.2260C>A (p.Gln754Lys) c.1777C>A (p.Gln593Lys) c.1672C>A (p.Gln558Lys) | |
3 | g.122284214C>G | CA354159205 | CASR | c.2029C>G (p.Gln677Glu) c.2290C>G (p.Gln764Glu) c.2260C>G (p.Gln754Glu) c.1777C>G (p.Gln593Glu) c.1672C>G (p.Gln558Glu) | |
3 | g.122284214C>T | CA354159207 | CASR | c.2029C>T (p.Gln677Ter) c.2290C>T (p.Gln764Ter) c.2260C>T (p.Gln754Ter) c.1777C>T (p.Gln593Ter) c.1672C>T (p.Gln558Ter) | |
3 | g.122284215A= | CA1397871928 | CASR | c.2030A= (p.Gln677=) c.2291A= (p.Gln764=) c.2261A= (p.Gln754=) c.1778A= (p.Gln593=) c.1673A= (p.Gln558=) | |
3 | g.122284215A>C | CA354159209 | CASR | c.2030A>C (p.Gln677Pro) c.2291A>C (p.Gln764Pro) c.2261A>C (p.Gln754Pro) c.1778A>C (p.Gln593Pro) c.1673A>C (p.Gln558Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284215A>G | CA2569806 | CASR | c.2030A>G (p.Gln677Arg) c.2291A>G (p.Gln764Arg) c.2261A>G (p.Gln754Arg) c.1778A>G (p.Gln593Arg) c.1673A>G (p.Gln558Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284215A>T | CA354159210 | CASR | c.2030A>T (p.Gln677Leu) c.2291A>T (p.Gln764Leu) c.2261A>T (p.Gln754Leu) c.1778A>T (p.Gln593Leu) c.1673A>T (p.Gln558Leu) | gnomAD v4 |
3 | g.122284216G>A | CA435424786 | CASR | c.2031G>A (p.Gln677=) c.2292G>A (p.Gln764=) c.2262G>A (p.Gln754=) c.1779G>A (p.Gln593=) c.1674G>A (p.Gln558=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284216G>C | CA354159212 | CASR | c.2031G>C (p.Gln677His) c.2292G>C (p.Gln764His) c.2262G>C (p.Gln754His) c.1779G>C (p.Gln593His) c.1674G>C (p.Gln558His) | dbSNP |
3 | g.122284216G= | CA1397871932 | CASR | c.2031G= (p.Gln677=) c.2292G= (p.Gln764=) c.2262G= (p.Gln754=) c.1779G= (p.Gln593=) c.1674G= (p.Gln558=) | |
3 | g.122284216G>T | CA354159214 | CASR | c.2031G>T (p.Gln677His) c.2292G>T (p.Gln764His) c.2262G>T (p.Gln754His) c.1779G>T (p.Gln593His) c.1674G>T (p.Gln558His) | gnomAD v4 |
3 | g.122284217G>A | CA354159215 | CASR | c.2032G>A (p.Glu678Lys) c.2293G>A (p.Glu765Lys) c.2263G>A (p.Glu755Lys) c.1780G>A (p.Glu594Lys) c.1675G>A (p.Glu559Lys) | |
3 | g.122284217G>C | CA354159217 | CASR | c.2032G>C (p.Glu678Gln) c.2293G>C (p.Glu765Gln) c.2263G>C (p.Glu755Gln) c.1780G>C (p.Glu594Gln) c.1675G>C (p.Glu559Gln) | |
3 | g.122284217G>T | CA354159218 | CASR | c.2032G>T (p.Glu678Ter) c.2293G>T (p.Glu765Ter) c.2263G>T (p.Glu755Ter) c.1780G>T (p.Glu594Ter) c.1675G>T (p.Glu559Ter) | |
3 | g.122284218A= | CA1397871935 | CASR | c.2033A= (p.Glu678=) c.2294A= (p.Glu765=) c.2264A= (p.Glu755=) c.1781A= (p.Glu594=) c.1676A= (p.Glu559=) | |
3 | g.122284218A>C | CA354159223 | CASR | c.2033A>C (p.Glu678Ala) c.2294A>C (p.Glu765Ala) c.2264A>C (p.Glu755Ala) c.1781A>C (p.Glu594Ala) c.1676A>C (p.Glu559Ala) | |
3 | g.122284218A>G | CA354159225 | CASR | c.2033A>G (p.Glu678Gly) c.2294A>G (p.Glu765Gly) c.2264A>G (p.Glu755Gly) c.1781A>G (p.Glu594Gly) c.1676A>G (p.Glu559Gly) | ClinVar dbSNP |
3 | g.122284218A>T | CA354159221 | CASR | c.2033A>T (p.Glu678Val) c.2294A>T (p.Glu765Val) c.2264A>T (p.Glu755Val) c.1781A>T (p.Glu594Val) c.1676A>T (p.Glu559Val) | |
3 | g.122284219G>A | CA435424788 | CASR | c.2034G>A (p.Glu678=) c.2295G>A (p.Glu765=) c.2265G>A (p.Glu755=) c.1782G>A (p.Glu594=) c.1677G>A (p.Glu559=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122284219G>C | CA354159227 | CASR | c.2034G>C (p.Glu678Asp) c.2295G>C (p.Glu765Asp) c.2265G>C (p.Glu755Asp) c.1782G>C (p.Glu594Asp) c.1677G>C (p.Glu559Asp) | gnomAD v4 |
3 | g.122284219G= | CA1397871942 | CASR | c.2034G= (p.Glu678=) c.2295G= (p.Glu765=) c.2265G= (p.Glu755=) c.1782G= (p.Glu594=) c.1677G= (p.Glu559=) | |
3 | g.122284219G>T | CA2569807 | CASR | c.2034G>T (p.Glu678Asp) c.2295G>T (p.Glu765Asp) c.2265G>T (p.Glu755Asp) c.1782G>T (p.Glu594Asp) c.1677G>T (p.Glu559Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122284220C>A | CA354159230 | CASR | c.2035C>A (p.Leu679Met) c.2296C>A (p.Leu766Met) c.2266C>A (p.Leu756Met) c.1783C>A (p.Leu595Met) c.1678C>A (p.Leu560Met) | |
3 | g.122284220C>G | CA354159232 | CASR | c.2035C>G (p.Leu679Val) c.2296C>G (p.Leu766Val) c.2266C>G (p.Leu756Val) c.1783C>G (p.Leu595Val) c.1678C>G (p.Leu560Val) | |
3 | g.122284220C>T | CA435424791 | CASR | c.2035C>T (p.Leu679=) c.2296C>T (p.Leu766=) c.2266C>T (p.Leu756=) c.1783C>T (p.Leu595=) c.1678C>T (p.Leu560=) | gnomAD v4 |
3 | g.122284221T>A | CA354159235 | CASR | c.2036T>A (p.Leu679Gln) c.2297T>A (p.Leu766Gln) c.2267T>A (p.Leu756Gln) c.1784T>A (p.Leu595Gln) c.1679T>A (p.Leu560Gln) | |
3 | g.122284221T>C | CA354159236 | CASR | c.2036T>C (p.Leu679Pro) c.2297T>C (p.Leu766Pro) c.2267T>C (p.Leu756Pro) c.1784T>C (p.Leu595Pro) c.1679T>C (p.Leu560Pro) | |
3 | g.122284221T>G | CA354159237 | CASR | c.2036T>G (p.Leu679Arg) c.2297T>G (p.Leu766Arg) c.2267T>G (p.Leu756Arg) c.1784T>G (p.Leu595Arg) c.1679T>G (p.Leu560Arg) | |
3 | g.122284222G>A | CA435424795 | CASR | c.2037G>A (p.Leu679=) c.2298G>A (p.Leu766=) c.2268G>A (p.Leu756=) c.1785G>A (p.Leu595=) c.1680G>A (p.Leu560=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284222G>C | CA435424796 | CASR | c.2037G>C (p.Leu679=) c.2298G>C (p.Leu766=) c.2268G>C (p.Leu756=) c.1785G>C (p.Leu595=) c.1680G>C (p.Leu560=) | |
3 | g.122284222G>T | CA435424797 | CASR | c.2037G>T (p.Leu679=) c.2298G>T (p.Leu766=) c.2268G>T (p.Leu756=) c.1785G>T (p.Leu595=) c.1680G>T (p.Leu560=) | ClinVar gnomAD v4 |
3 | g.122284223G>A | CA354159239 | CASR | c.2038G>A (p.Glu680Lys) c.2299G>A (p.Glu767Lys) c.2269G>A (p.Glu757Lys) c.1786G>A (p.Glu596Lys) c.1681G>A (p.Glu561Lys) | ClinVar dbSNP |
3 | g.122284223G>C | CA354159242 | CASR | c.2038G>C (p.Glu680Gln) c.2299G>C (p.Glu767Gln) c.2269G>C (p.Glu757Gln) c.1786G>C (p.Glu596Gln) c.1681G>C (p.Glu561Gln) | |
3 | g.122284223G= | CA1397871945 | CASR | c.2038G= (p.Glu680=) c.2299G= (p.Glu767=) c.2269G= (p.Glu757=) c.1786G= (p.Glu596=) c.1681G= (p.Glu561=) | |
3 | g.122284223G>T | CA354159244 | CASR | c.2038G>T (p.Glu680Ter) c.2299G>T (p.Glu767Ter) c.2269G>T (p.Glu757Ter) c.1786G>T (p.Glu596Ter) c.1681G>T (p.Glu561Ter) | |
3 | g.122284224_122284225insAGATGATCTCATCCTCCAGCTCCTGGTTGCGGTAGCTTGA | CA2840613150 | CASR | c.2039_2040insAGATGATCTCATCCTCCAGCTCCTGGTTGCGGTAGCTTGA (p.Glu682AspfsTer12) c.2300_2301insAGATGATCTCATCCTCCAGCTCCTGGTTGCGGTAGCTTGA (p.Glu769AspfsTer12) c.2270_2271insAGATGATCTCATCCTCCAGCTCCTGGTTGCGGTAGCTTGA (p.Glu759AspfsTer12) c.1787_1788insAGATGATCTCATCCTCCAGCTCCTGGTTGCGGTAGCTTGA (p.Glu598AspfsTer12) c.1682_1683insAGATGATCTCATCCTCCAGCTCCTGGTTGCGGTAGCTTGA (p.Glu563AspfsTer12) | |
3 | g.122284224A>C | CA354159246 | CASR | c.2039A>C (p.Glu680Ala) c.2300A>C (p.Glu767Ala) c.2270A>C (p.Glu757Ala) c.1787A>C (p.Glu596Ala) c.1682A>C (p.Glu561Ala) | |
3 | g.122284224A>G | CA354159248 | CASR | c.2039A>G (p.Glu680Gly) c.2300A>G (p.Glu767Gly) c.2270A>G (p.Glu757Gly) c.1787A>G (p.Glu596Gly) c.1682A>G (p.Glu561Gly) | |
3 | g.122284224A>T | CA354159250 | CASR | c.2039A>T (p.Glu680Val) c.2300A>T (p.Glu767Val) c.2270A>T (p.Glu757Val) c.1787A>T (p.Glu596Val) c.1682A>T (p.Glu561Val) | |
3 | g.122284225G>A | CA435424799 | CASR | c.2040G>A (p.Glu680=) c.2301G>A (p.Glu767=) c.2271G>A (p.Glu757=) c.1788G>A (p.Glu596=) c.1683G>A (p.Glu561=) | |
3 | g.122284225G>C | CA354159252 | CASR | c.2040G>C (p.Glu680Asp) c.2301G>C (p.Glu767Asp) c.2271G>C (p.Glu757Asp) c.1788G>C (p.Glu596Asp) c.1683G>C (p.Glu561Asp) | |
3 | g.122284225G>T | CA354159253 | CASR | c.2040G>T (p.Glu680Asp) c.2301G>T (p.Glu767Asp) c.2271G>T (p.Glu757Asp) c.1788G>T (p.Glu596Asp) c.1683G>T (p.Glu561Asp) | gnomAD v4 |
3 | g.122284226G>A | CA354159254 | CASR | c.2041G>A (p.Asp681Asn) c.2302G>A (p.Asp768Asn) c.2272G>A (p.Asp758Asn) c.1789G>A (p.Asp597Asn) c.1684G>A (p.Asp562Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.122284226G>C | CA354159256 | CASR | c.2041G>C (p.Asp681His) c.2302G>C (p.Asp768His) c.2272G>C (p.Asp758His) c.1789G>C (p.Asp597His) c.1684G>C (p.Asp562His) | |
3 | g.122284226G= | CA1397871947 | CASR | c.2041G= (p.Asp681=) c.2302G= (p.Asp768=) c.2272G= (p.Asp758=) c.1789G= (p.Asp597=) c.1684G= (p.Asp562=) | |
3 | g.122284226G>T | CA354159257 | CASR | c.2041G>T (p.Asp681Tyr) c.2302G>T (p.Asp768Tyr) c.2272G>T (p.Asp758Tyr) c.1789G>T (p.Asp597Tyr) c.1684G>T (p.Asp562Tyr) | |
3 | g.122284227A>C | CA354159259 | CASR | c.2042A>C (p.Asp681Ala) c.2303A>C (p.Asp768Ala) c.2273A>C (p.Asp758Ala) c.1790A>C (p.Asp597Ala) c.1685A>C (p.Asp562Ala) | |
3 | g.122284227A>G | CA354159261 | CASR | c.2042A>G (p.Asp681Gly) c.2303A>G (p.Asp768Gly) c.2273A>G (p.Asp758Gly) c.1790A>G (p.Asp597Gly) c.1685A>G (p.Asp562Gly) | |
3 | g.122284227A>T | CA354159263 | CASR | c.2042A>T (p.Asp681Val) c.2303A>T (p.Asp768Val) c.2273A>T (p.Asp758Val) c.1790A>T (p.Asp597Val) c.1685A>T (p.Asp562Val) | |
3 | g.122284228T>A | CA354159265 | CASR | c.2043T>A (p.Asp681Glu) c.2304T>A (p.Asp768Glu) c.2274T>A (p.Asp758Glu) c.1791T>A (p.Asp597Glu) c.1686T>A (p.Asp562Glu) | |
3 | g.122284228T>C | CA435424803 | CASR | c.2043T>C (p.Asp681=) c.2304T>C (p.Asp768=) c.2274T>C (p.Asp758=) c.1791T>C (p.Asp597=) c.1686T>C (p.Asp562=) | gnomAD v4 |
3 | g.122284228T>G | CA354159267 | CASR | c.2043T>G (p.Asp681Glu) c.2304T>G (p.Asp768Glu) c.2274T>G (p.Asp758Glu) c.1791T>G (p.Asp597Glu) c.1686T>G (p.Asp562Glu) | gnomAD v3 gnomAD v4 |
3 | g.122284229G>A | CA354159269 | CASR | c.2044G>A (p.Glu682Lys) c.2305G>A (p.Glu769Lys) c.2275G>A (p.Glu759Lys) c.1792G>A (p.Glu598Lys) c.1687G>A (p.Glu563Lys) | ClinVar |
3 | g.122284229G>C | CA354159272 | CASR | c.2044G>C (p.Glu682Gln) c.2305G>C (p.Glu769Gln) c.2275G>C (p.Glu759Gln) c.1792G>C (p.Glu598Gln) c.1687G>C (p.Glu563Gln) | |
3 | g.122284229G>T | CA354159274 | CASR | c.2044G>T (p.Glu682Ter) c.2305G>T (p.Glu769Ter) c.2275G>T (p.Glu759Ter) c.1792G>T (p.Glu598Ter) c.1687G>T (p.Glu563Ter) | |
3 | g.122284231_122284232del | CA2839155894 | CASR | c.2046_2047del (p.Glu682AspfsTer?) c.2307_2308del (p.Glu769AspfsTer?) c.2277_2278del (p.Glu759AspfsTer?) c.1794_1795del (p.Glu598AspfsTer?) c.1689_1690del (p.Glu563AspfsTer?) | |
3 | g.122284230A>C | CA354159278 | CASR | c.2045A>C (p.Glu682Ala) c.2306A>C (p.Glu769Ala) c.2276A>C (p.Glu759Ala) c.1793A>C (p.Glu598Ala) c.1688A>C (p.Glu563Ala) | |
3 | g.122284230A>G | CA354159279 | CASR | c.2045A>G (p.Glu682Gly) c.2306A>G (p.Glu769Gly) c.2276A>G (p.Glu759Gly) c.1793A>G (p.Glu598Gly) c.1688A>G (p.Glu563Gly) | |
3 | g.122284230A>T | CA354159276 | CASR | c.2045A>T (p.Glu682Val) c.2306A>T (p.Glu769Val) c.2276A>T (p.Glu759Val) c.1793A>T (p.Glu598Val) c.1688A>T (p.Glu563Val) | |
3 | g.122284231G>A | CA435424805 | CASR | c.2046G>A (p.Glu682=) c.2307G>A (p.Glu769=) c.2277G>A (p.Glu759=) c.1794G>A (p.Glu598=) c.1689G>A (p.Glu563=) | ClinVar gnomAD v4 |
3 | g.122284231G>C | CA354159283 | CASR | c.2046G>C (p.Glu682Asp) c.2307G>C (p.Glu769Asp) c.2277G>C (p.Glu759Asp) c.1794G>C (p.Glu598Asp) c.1689G>C (p.Glu563Asp) | |
3 | g.122284231G>T | CA354159282 | CASR | c.2046G>T (p.Glu682Asp) c.2307G>T (p.Glu769Asp) c.2277G>T (p.Glu759Asp) c.1794G>T (p.Glu598Asp) c.1689G>T (p.Glu563Asp) | |
3 | g.122284232A= | CA1397871952 | CASR | c.2047A= (p.Ile683=) c.2308A= (p.Ile770=) c.2278A= (p.Ile760=) c.1795A= (p.Ile599=) c.1690A= (p.Ile564=) | |
3 | g.122284232A>C | CA354159286 | CASR | c.2047A>C (p.Ile683Leu) c.2308A>C (p.Ile770Leu) c.2278A>C (p.Ile760Leu) c.1795A>C (p.Ile599Leu) c.1690A>C (p.Ile564Leu) | |
3 | g.122284232A>G | CA354159288 | CASR | c.2047A>G (p.Ile683Val) c.2308A>G (p.Ile770Val) c.2278A>G (p.Ile760Val) c.1795A>G (p.Ile599Val) c.1690A>G (p.Ile564Val) | ClinVar dbSNP |
3 | g.122284232A>T | CA354159289 | CASR | c.2047A>T (p.Ile683Phe) c.2308A>T (p.Ile770Phe) c.2278A>T (p.Ile760Phe) c.1795A>T (p.Ile599Phe) c.1690A>T (p.Ile564Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122284235_122284237del | CA2586972868 | CASR | c.2050_2052del (p.Ile684del) c.2311_2313del (p.Ile771del) c.2281_2283del (p.Ile761del) c.1798_1800del (p.Ile600del) c.1693_1695del (p.Ile565del) | |
3 | g.122284233T>A | CA354159291 | CASR | c.2048T>A (p.Ile683Asn) c.2309T>A (p.Ile770Asn) c.2279T>A (p.Ile760Asn) c.1796T>A (p.Ile599Asn) c.1691T>A (p.Ile564Asn) | |
3 | g.122284233T>C | CA354159293 | CASR | c.2048T>C (p.Ile683Thr) c.2309T>C (p.Ile770Thr) c.2279T>C (p.Ile760Thr) c.1796T>C (p.Ile599Thr) c.1691T>C (p.Ile564Thr) | |
3 | g.122284233T>G | CA354159295 | CASR | c.2048T>G (p.Ile683Ser) c.2309T>G (p.Ile770Ser) c.2279T>G (p.Ile760Ser) c.1796T>G (p.Ile599Ser) c.1691T>G (p.Ile564Ser) | gnomAD v4 |
3 | g.122284234C>A | CA435424809 | CASR | c.2049C>A (p.Ile683=) c.2310C>A (p.Ile770=) c.2280C>A (p.Ile760=) c.1797C>A (p.Ile599=) c.1692C>A (p.Ile564=) | ClinVar dbSNP gnomAD v4 |
3 | g.122284234C= | CA1397871961 | CASR | c.2049C= (p.Ile683=) c.2310C= (p.Ile770=) c.2280C= (p.Ile760=) c.1797C= (p.Ile599=) c.1692C= (p.Ile564=) | |
3 | g.122284234C>G | CA354159297 | CASR | c.2049C>G (p.Ile683Met) c.2310C>G (p.Ile770Met) c.2280C>G (p.Ile760Met) c.1797C>G (p.Ile599Met) c.1692C>G (p.Ile564Met) | ClinVar dbSNP |
3 | g.122284234C>T | CA435424810 | CASR | c.2049C>T (p.Ile683=) c.2310C>T (p.Ile770=) c.2280C>T (p.Ile760=) c.1797C>T (p.Ile599=) c.1692C>T (p.Ile564=) | dbSNP COSMIC |
3 | g.122284235A>C | CA354159299 | CASR | c.2050A>C (p.Ile684Leu) c.2311A>C (p.Ile771Leu) c.2281A>C (p.Ile761Leu) c.1798A>C (p.Ile600Leu) c.1693A>C (p.Ile565Leu) | ClinVar |
3 | g.122284235A>G | CA354159300 | CASR | c.2050A>G (p.Ile684Val) c.2311A>G (p.Ile771Val) c.2281A>G (p.Ile761Val) c.1798A>G (p.Ile600Val) c.1693A>G (p.Ile565Val) | |
3 | g.122284235A>T | CA354159301 | CASR | c.2050A>T (p.Ile684Phe) c.2311A>T (p.Ile771Phe) c.2281A>T (p.Ile761Phe) c.1798A>T (p.Ile600Phe) c.1693A>T (p.Ile565Phe) | |
3 | g.122284236T>A | CA354159303 | CASR | c.2051T>A (p.Ile684Asn) c.2312T>A (p.Ile771Asn) c.2282T>A (p.Ile761Asn) c.1799T>A (p.Ile600Asn) c.1694T>A (p.Ile565Asn) | ClinVar |
3 | g.122284236T>C | CA354159304 | CASR | c.2051T>C (p.Ile684Thr) c.2312T>C (p.Ile771Thr) c.2282T>C (p.Ile761Thr) c.1799T>C (p.Ile600Thr) c.1694T>C (p.Ile565Thr) | ClinVar |
3 | g.122284236T>G | CA354159306 | CASR | c.2051T>G (p.Ile684Ser) c.2312T>G (p.Ile771Ser) c.2282T>G (p.Ile761Ser) c.1799T>G (p.Ile600Ser) c.1694T>G (p.Ile565Ser) | COSMIC |
3 | g.122284237C>A | CA435424816 | CASR | c.2052C>A (p.Ile684=) c.2313C>A (p.Ile771=) c.2283C>A (p.Ile761=) c.1800C>A (p.Ile600=) c.1695C>A (p.Ile565=) | ClinVar |
3 | g.122284237C>G | CA354159309 | CASR | c.2052C>G (p.Ile684Met) c.2313C>G (p.Ile771Met) c.2283C>G (p.Ile761Met) c.1800C>G (p.Ile600Met) c.1695C>G (p.Ile565Met) | |
3 | g.122284237C>T | CA435424815 | CASR | c.2052C>T (p.Ile684=) c.2313C>T (p.Ile771=) c.2283C>T (p.Ile761=) c.1800C>T (p.Ile600=) c.1695C>T (p.Ile565=) | ClinVar |
3 | g.122284238T>A | CA354159310 | CASR | c.2053T>A (p.Phe685Ile) c.2314T>A (p.Phe772Ile) c.2284T>A (p.Phe762Ile) c.1801T>A (p.Phe601Ile) c.1696T>A (p.Phe566Ile) | |
3 | g.122284238T>C | CA354159312 | CASR | c.2053T>C (p.Phe685Leu) c.2314T>C (p.Phe772Leu) c.2284T>C (p.Phe762Leu) c.1801T>C (p.Phe601Leu) c.1696T>C (p.Phe566Leu) | |
3 | g.122284238T>G | CA354159314 | CASR | c.2053T>G (p.Phe685Val) c.2314T>G (p.Phe772Val) c.2284T>G (p.Phe762Val) c.1801T>G (p.Phe601Val) c.1696T>G (p.Phe566Val) | |
3 | g.122284239T>A | CA354159317 | CASR | c.2054T>A (p.Phe685Tyr) c.2315T>A (p.Phe772Tyr) c.2285T>A (p.Phe762Tyr) c.1802T>A (p.Phe601Tyr) c.1697T>A (p.Phe566Tyr) | |
3 | g.122284239T>C | CA354159319 | CASR | c.2054T>C (p.Phe685Ser) c.2315T>C (p.Phe772Ser) c.2285T>C (p.Phe762Ser) c.1802T>C (p.Phe601Ser) c.1697T>C (p.Phe566Ser) | |
3 | g.122284239T>G | CA354159320 | CASR | c.2054T>G (p.Phe685Cys) c.2315T>G (p.Phe772Cys) c.2285T>G (p.Phe762Cys) c.1802T>G (p.Phe601Cys) c.1697T>G (p.Phe566Cys) | |
3 | g.122284240C>A | CA354159323 | CASR | c.2055C>A (p.Phe685Leu) c.2316C>A (p.Phe772Leu) c.2286C>A (p.Phe762Leu) c.1803C>A (p.Phe601Leu) c.1698C>A (p.Phe566Leu) | |
3 | g.122284240C>G | CA354159324 | CASR | c.2055C>G (p.Phe685Leu) c.2316C>G (p.Phe772Leu) c.2286C>G (p.Phe762Leu) c.1803C>G (p.Phe601Leu) c.1698C>G (p.Phe566Leu) | |
3 | g.122284240C>T | CA435424822 | CASR | c.2055C>T (p.Phe685=) c.2316C>T (p.Phe772=) c.2286C>T (p.Phe762=) c.1803C>T (p.Phe601=) c.1698C>T (p.Phe566=) | |
3 | g.122284241A>C | CA354159326 | CASR | c.2056A>C (p.Ile686Leu) c.2317A>C (p.Ile773Leu) c.2287A>C (p.Ile763Leu) c.1804A>C (p.Ile602Leu) c.1699A>C (p.Ile567Leu) | ClinVar gnomAD v4 |
3 | g.122284241A>G | CA354159327 | CASR | c.2056A>G (p.Ile686Val) c.2317A>G (p.Ile773Val) c.2287A>G (p.Ile763Val) c.1804A>G (p.Ile602Val) c.1699A>G (p.Ile567Val) | gnomAD v4 |
3 | g.122284241A>T | CA354159329 | CASR | c.2056A>T (p.Ile686Phe) c.2317A>T (p.Ile773Phe) c.2287A>T (p.Ile763Phe) c.1804A>T (p.Ile602Phe) c.1699A>T (p.Ile567Phe) | ClinVar COSMIC |
3 | g.122284242T>A | CA354159331 | CASR | c.2057T>A (p.Ile686Asn) c.2318T>A (p.Ile773Asn) c.2288T>A (p.Ile763Asn) c.1805T>A (p.Ile602Asn) c.1700T>A (p.Ile567Asn) | |
3 | g.122284242T>C | CA354159333 | CASR | c.2057T>C (p.Ile686Thr) c.2318T>C (p.Ile773Thr) c.2288T>C (p.Ile763Thr) c.1805T>C (p.Ile602Thr) c.1700T>C (p.Ile567Thr) | |
3 | g.122284242T>G | CA354159336 | CASR | c.2057T>G (p.Ile686Ser) c.2318T>G (p.Ile773Ser) c.2288T>G (p.Ile763Ser) c.1805T>G (p.Ile602Ser) c.1700T>G (p.Ile567Ser) | ClinVar |