Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122283689G>ACA354157066CASRc.1504G>A (p.Ala502Thr)
c.1765G>A (p.Ala589Thr)
c.1735G>A (p.Ala579Thr)
c.1252G>A (p.Ala418Thr)
c.1147G>A (p.Ala383Thr)
COSMIC
3g.122283689G>CCA354157068CASRc.1504G>C (p.Ala502Pro)
c.1765G>C (p.Ala589Pro)
c.1735G>C (p.Ala579Pro)
c.1252G>C (p.Ala418Pro)
c.1147G>C (p.Ala383Pro)
3g.122283689G>TCA354157070CASRc.1504G>T (p.Ala502Ser)
c.1765G>T (p.Ala589Ser)
c.1735G>T (p.Ala579Ser)
c.1252G>T (p.Ala418Ser)
c.1147G>T (p.Ala383Ser)
3g.122283690C>ACA354157072CASRc.1505C>A (p.Ala502Asp)
c.1766C>A (p.Ala589Asp)
c.1736C>A (p.Ala579Asp)
c.1253C>A (p.Ala418Asp)
c.1148C>A (p.Ala383Asp)
3g.122283690C=CA1397870803CASRc.1505C= (p.Ala502=)
c.1766C= (p.Ala589=)
c.1736C= (p.Ala579=)
c.1253C= (p.Ala418=)
c.1148C= (p.Ala383=)
3g.122283690C>GCA354157074CASRc.1505C>G (p.Ala502Gly)
c.1766C>G (p.Ala589Gly)
c.1736C>G (p.Ala579Gly)
c.1253C>G (p.Ala418Gly)
c.1148C>G (p.Ala383Gly)
3g.122283690C>TCA82748525CASRc.1505C>T (p.Ala502Val)
c.1766C>T (p.Ala589Val)
c.1736C>T (p.Ala579Val)
c.1253C>T (p.Ala418Val)
c.1148C>T (p.Ala383Val)
dbSNP
3g.122283691C>ACA435251682CASRc.1506C>A (p.Ala502=)
c.1767C>A (p.Ala589=)
c.1737C>A (p.Ala579=)
c.1254C>A (p.Ala418=)
c.1149C>A (p.Ala383=)
3g.122283691C>GCA435251683CASRc.1506C>G (p.Ala502=)
c.1767C>G (p.Ala589=)
c.1737C>G (p.Ala579=)
c.1254C>G (p.Ala418=)
c.1149C>G (p.Ala383=)
3g.122283691C>TCA435251684CASRc.1506C>T (p.Ala502=)
c.1767C>T (p.Ala589=)
c.1737C>T (p.Ala579=)
c.1254C>T (p.Ala418=)
c.1149C>T (p.Ala383=)
3g.122283692A>CCA354157079CASRc.1507A>C (p.Ser503Arg)
c.1768A>C (p.Ser590Arg)
c.1738A>C (p.Ser580Arg)
c.1255A>C (p.Ser419Arg)
c.1150A>C (p.Ser384Arg)
3g.122283692A>GCA354157081CASRc.1507A>G (p.Ser503Gly)
c.1768A>G (p.Ser590Gly)
c.1738A>G (p.Ser580Gly)
c.1255A>G (p.Ser419Gly)
c.1150A>G (p.Ser384Gly)
3g.122283692A>TCA354157082CASRc.1507A>T (p.Ser503Cys)
c.1768A>T (p.Ser590Cys)
c.1738A>T (p.Ser580Cys)
c.1255A>T (p.Ser419Cys)
c.1150A>T (p.Ser384Cys)
3g.122283693G>ACA354157087CASRc.1508G>A (p.Ser503Asn)
c.1769G>A (p.Ser590Asn)
c.1739G>A (p.Ser580Asn)
c.1256G>A (p.Ser419Asn)
c.1151G>A (p.Ser384Asn)
ClinVar
3g.122283693G>CCA354157089CASRc.1508G>C (p.Ser503Thr)
c.1769G>C (p.Ser590Thr)
c.1739G>C (p.Ser580Thr)
c.1256G>C (p.Ser419Thr)
c.1151G>C (p.Ser384Thr)
3g.122283693G>TCA354157085CASRc.1508G>T (p.Ser503Ile)
c.1769G>T (p.Ser590Ile)
c.1739G>T (p.Ser580Ile)
c.1256G>T (p.Ser419Ile)
c.1151G>T (p.Ser384Ile)
3g.122283694T>ACA354157092CASRc.1509T>A (p.Ser503Arg)
c.1770T>A (p.Ser590Arg)
c.1740T>A (p.Ser580Arg)
c.1257T>A (p.Ser419Arg)
c.1152T>A (p.Ser384Arg)
3g.122283694T>CCA435251688CASRc.1509T>C (p.Ser503=)
c.1770T>C (p.Ser590=)
c.1740T>C (p.Ser580=)
c.1257T>C (p.Ser419=)
c.1152T>C (p.Ser384=)
3g.122283694T>GCA354157094CASRc.1509T>G (p.Ser503Arg)
c.1770T>G (p.Ser590Arg)
c.1740T>G (p.Ser580Arg)
c.1257T>G (p.Ser419Arg)
c.1152T>G (p.Ser384Arg)
3g.122283695G>ACA354157097CASRc.1510G>A (p.Ala504Thr)
c.1771G>A (p.Ala591Thr)
c.1741G>A (p.Ala581Thr)
c.1258G>A (p.Ala420Thr)
c.1153G>A (p.Ala385Thr)
3g.122283695G>CCA354157099CASRc.1510G>C (p.Ala504Pro)
c.1771G>C (p.Ala591Pro)
c.1741G>C (p.Ala581Pro)
c.1258G>C (p.Ala420Pro)
c.1153G>C (p.Ala385Pro)
3g.122283695G>TCA354157101CASRc.1510G>T (p.Ala504Ser)
c.1771G>T (p.Ala591Ser)
c.1741G>T (p.Ala581Ser)
c.1258G>T (p.Ala420Ser)
c.1153G>T (p.Ala385Ser)
3g.122283696C>ACA354157104CASRc.1511C>A (p.Ala504Asp)
c.1772C>A (p.Ala591Asp)
c.1742C>A (p.Ala581Asp)
c.1259C>A (p.Ala420Asp)
c.1154C>A (p.Ala385Asp)
3g.122283696C>GCA354157106CASRc.1511C>G (p.Ala504Gly)
c.1772C>G (p.Ala591Gly)
c.1742C>G (p.Ala581Gly)
c.1259C>G (p.Ala420Gly)
c.1154C>G (p.Ala385Gly)
3g.122283696C>TCA354157107CASRc.1511C>T (p.Ala504Val)
c.1772C>T (p.Ala591Val)
c.1742C>T (p.Ala581Val)
c.1259C>T (p.Ala420Val)
c.1154C>T (p.Ala385Val)
3g.122283697C>ACA435251689CASRc.1512C>A (p.Ala504=)
c.1773C>A (p.Ala591=)
c.1743C>A (p.Ala581=)
c.1260C>A (p.Ala420=)
c.1155C>A (p.Ala385=)
3g.122283697C>GCA435251690CASRc.1512C>G (p.Ala504=)
c.1773C>G (p.Ala591=)
c.1743C>G (p.Ala581=)
c.1260C>G (p.Ala420=)
c.1155C>G (p.Ala385=)
gnomAD v4
3g.122283697C>TCA435251691CASRc.1512C>T (p.Ala504=)
c.1773C>T (p.Ala591=)
c.1743C>T (p.Ala581=)
c.1260C>T (p.Ala420=)
c.1155C>T (p.Ala385=)
ClinVar COSMIC
3g.122283698T>ACA354157111CASRc.1513T>A (p.Cys505Ser)
c.1774T>A (p.Cys592Ser)
c.1744T>A (p.Cys582Ser)
c.1261T>A (p.Cys421Ser)
c.1156T>A (p.Cys386Ser)
ClinVar dbSNP
3g.122283698T>CCA354157112CASRc.1513T>C (p.Cys505Arg)
c.1774T>C (p.Cys592Arg)
c.1744T>C (p.Cys582Arg)
c.1261T>C (p.Cys421Arg)
c.1156T>C (p.Cys386Arg)
ClinVar
3g.122283698T>GCA354157115CASRc.1513T>G (p.Cys505Gly)
c.1774T>G (p.Cys592Gly)
c.1744T>G (p.Cys582Gly)
c.1261T>G (p.Cys421Gly)
c.1156T>G (p.Cys386Gly)
3g.122283698T=CA1397870807CASRc.1513T= (p.Cys505=)
c.1774T= (p.Cys592=)
c.1744T= (p.Cys582=)
c.1261T= (p.Cys421=)
c.1156T= (p.Cys386=)
3g.122283699G>ACA119477CASRc.1514G>A (p.Cys505Tyr)
c.1775G>A (p.Cys592Tyr)
c.1745G>A (p.Cys582Tyr)
c.1262G>A (p.Cys421Tyr)
c.1157G>A (p.Cys386Tyr)
ClinVar dbSNP gnomAD v4
3g.122283699G>CCA354157119CASRc.1514G>C (p.Cys505Ser)
c.1775G>C (p.Cys592Ser)
c.1745G>C (p.Cys582Ser)
c.1262G>C (p.Cys421Ser)
c.1157G>C (p.Cys386Ser)
3g.122283699G=CA1397870814CASRc.1514G= (p.Cys505=)
c.1775G= (p.Cys592=)
c.1745G= (p.Cys582=)
c.1262G= (p.Cys421=)
c.1157G= (p.Cys386=)
3g.122283699G>TCA119545CASRc.1514G>T (p.Cys505Phe)
c.1775G>T (p.Cys592Phe)
c.1745G>T (p.Cys582Phe)
c.1262G>T (p.Cys421Phe)
c.1157G>T (p.Cys386Phe)
ClinVar dbSNP
3g.122283700T>ACA354157125CASRc.1515T>A (p.Cys505Ter)
c.1776T>A (p.Cys592Ter)
c.1746T>A (p.Cys582Ter)
c.1263T>A (p.Cys421Ter)
c.1158T>A (p.Cys386Ter)
3g.122283700T>CCA435251694CASRc.1515T>C (p.Cys505=)
c.1776T>C (p.Cys592=)
c.1746T>C (p.Cys582=)
c.1263T>C (p.Cys421=)
c.1158T>C (p.Cys386=)
3g.122283700T>GCA354157123CASRc.1515T>G (p.Cys505Trp)
c.1776T>G (p.Cys592Trp)
c.1746T>G (p.Cys582Trp)
c.1263T>G (p.Cys421Trp)
c.1158T>G (p.Cys386Trp)
3g.122283700dupCA2586972856CASRc.1515dup (p.Asn506Ter)
c.1776dup (p.Asn593Ter)
c.1746dup (p.Asn583Ter)
c.1263dup (p.Asn422Ter)
c.1158dup (p.Asn387Ter)
3g.122283701A>CCA354157127CASRc.1516A>C (p.Asn506His)
c.1777A>C (p.Asn593His)
c.1747A>C (p.Asn583His)
c.1264A>C (p.Asn422His)
c.1159A>C (p.Asn387His)
3g.122283701A>GCA354157128CASRc.1516A>G (p.Asn506Asp)
c.1777A>G (p.Asn593Asp)
c.1747A>G (p.Asn583Asp)
c.1264A>G (p.Asn422Asp)
c.1159A>G (p.Asn387Asp)
ClinVar COSMIC
3g.122283701A>TCA354157130CASRc.1516A>T (p.Asn506Tyr)
c.1777A>T (p.Asn593Tyr)
c.1747A>T (p.Asn583Tyr)
c.1264A>T (p.Asn422Tyr)
c.1159A>T (p.Asn387Tyr)
3g.122283702A=CA1397870824CASRc.1517A= (p.Asn506=)
c.1778A= (p.Asn593=)
c.1748A= (p.Asn583=)
c.1265A= (p.Asn422=)
c.1160A= (p.Asn387=)
3g.122283702A>CCA354157132CASRc.1517A>C (p.Asn506Thr)
c.1778A>C (p.Asn593Thr)
c.1748A>C (p.Asn583Thr)
c.1265A>C (p.Asn422Thr)
c.1160A>C (p.Asn387Thr)
3g.122283702A>GCA354157134CASRc.1517A>G (p.Asn506Ser)
c.1778A>G (p.Asn593Ser)
c.1748A>G (p.Asn583Ser)
c.1265A>G (p.Asn422Ser)
c.1160A>G (p.Asn387Ser)
ClinVar dbSNP gnomAD v4
3g.122283702A>TCA354157136CASRc.1517A>T (p.Asn506Ile)
c.1778A>T (p.Asn593Ile)
c.1748A>T (p.Asn583Ile)
c.1265A>T (p.Asn422Ile)
c.1160A>T (p.Asn387Ile)
3g.122283703C>ACA354157140CASRc.1518C>A (p.Asn506Lys)
c.1779C>A (p.Asn593Lys)
c.1749C>A (p.Asn583Lys)
c.1266C>A (p.Asn422Lys)
c.1161C>A (p.Asn387Lys)
3g.122283703C>GCA354157138CASRc.1518C>G (p.Asn506Lys)
c.1779C>G (p.Asn593Lys)
c.1749C>G (p.Asn583Lys)
c.1266C>G (p.Asn422Lys)
c.1161C>G (p.Asn387Lys)
3g.122283703C>TCA435251697CASRc.1518C>T (p.Asn506=)
c.1779C>T (p.Asn593=)
c.1749C>T (p.Asn583=)
c.1266C>T (p.Asn422=)
c.1161C>T (p.Asn387=)
ClinVar

Number of alleles fetched