Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.122262244T>ACA354152824CASRc.1209T>A (p.Ser403Arg)
c.726T>A (p.Ser242Arg)
c.621T>A (p.Ser207Arg)
3g.122262244T>CCA216120CASRc.1209T>C (p.Ser403=)
c.726T>C (p.Ser242=)
c.621T>C (p.Ser207=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262244T>GCA354152825CASRc.1209T>G (p.Ser403Arg)
c.726T>G (p.Ser242Arg)
c.621T>G (p.Ser207Arg)
 ClinVar dbSNP gnomAD v4
3g.122262244T=CA1397873708CASRc.1209T= (p.Ser403=)
c.726T= (p.Ser242=)
c.621T= (p.Ser207=)
3g.122262245G>ACA354152826CASRc.1210G>A (p.Val404Ile)
c.727G>A (p.Val243Ile)
c.622G>A (p.Val208Ile)
3g.122262245G>CCA354152827CASRc.1210G>C (p.Val404Leu)
c.727G>C (p.Val243Leu)
c.622G>C (p.Val208Leu)
3g.122262245G>TCA354152828CASRc.1210G>T (p.Val404Phe)
c.727G>T (p.Val243Phe)
c.622G>T (p.Val208Phe)
3g.122262246T>ACA354152829CASRc.1211T>A (p.Val404Asp)
c.728T>A (p.Val243Asp)
c.623T>A (p.Val208Asp)
3g.122262246T>CCA354152830CASRc.1211T>C (p.Val404Ala)
c.728T>C (p.Val243Ala)
c.623T>C (p.Val208Ala)
3g.122262246T>GCA354152831CASRc.1211T>G (p.Val404Gly)
c.728T>G (p.Val243Gly)
c.623T>G (p.Val208Gly)
 ClinVar dbSNP
3g.122262246T=CA1397873713CASRc.1211T= (p.Val404=)
c.728T= (p.Val243=)
c.623T= (p.Val208=)
3g.122262247C>ACA435424687CASRc.1212C>A (p.Val404=)
c.729C>A (p.Val243=)
c.624C>A (p.Val208=)
3g.122262247C=CA1397873720CASRc.1212C= (p.Val404=)
c.729C= (p.Val243=)
c.624C= (p.Val208=)
3g.122262247C>GCA16611297CASRc.1212C>G (p.Val404=)
c.729C>G (p.Val243=)
c.624C>G (p.Val208=)
 ClinVar dbSNP gnomAD v4
3g.122262247C>TCA82739001CASRc.1212C>T (p.Val404=)
c.729C>T (p.Val243=)
c.624C>T (p.Val208=)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122262248G>ACA82739006CASRc.1213G>A (p.Glu405Lys)
c.730G>A (p.Glu244Lys)
c.625G>A (p.Glu209Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262248G>CCA354152833CASRc.1213G>C (p.Glu405Gln)
c.730G>C (p.Glu244Gln)
c.625G>C (p.Glu209Gln)
3g.122262248G=CA1397873728CASRc.1213G= (p.Glu405=)
c.730G= (p.Glu244=)
c.625G= (p.Glu209=)
3g.122262248G>TCA354152832CASRc.1213G>T (p.Glu405Ter)
c.730G>T (p.Glu244Ter)
c.625G>T (p.Glu209Ter)
3g.122262249A=CA1397873732CASRc.1214A= (p.Glu405=)
c.731A= (p.Glu244=)
c.626A= (p.Glu209=)
3g.122262249A>CCA354152834CASRc.1214A>C (p.Glu405Ala)
c.731A>C (p.Glu244Ala)
c.626A>C (p.Glu209Ala)
3g.122262249A>GCA354152835CASRc.1214A>G (p.Glu405Gly)
c.731A>G (p.Glu244Gly)
c.626A>G (p.Glu209Gly)
 ClinVar dbSNP
3g.122262249A>TCA354152836CASRc.1214A>T (p.Glu405Val)
c.731A>T (p.Glu244Val)
c.626A>T (p.Glu209Val)
3g.122262250G>ACA435424691CASRc.1215G>A (p.Glu405=)
c.732G>A (p.Glu244=)
c.627G>A (p.Glu209=)
3g.122262250G>CCA354152837CASRc.1215G>C (p.Glu405Asp)
c.732G>C (p.Glu244Asp)
c.627G>C (p.Glu209Asp)
 gnomAD v4
3g.122262250G>TCA354152838CASRc.1215G>T (p.Glu405Asp)
c.732G>T (p.Glu244Asp)
c.627G>T (p.Glu209Asp)
3g.122262251A>CCA354152841CASRc.1216A>C (p.Thr406Pro)
c.733A>C (p.Thr245Pro)
c.628A>C (p.Thr210Pro)
3g.122262251A>GCA354152840CASRc.1216A>G (p.Thr406Ala)
c.733A>G (p.Thr245Ala)
c.628A>G (p.Thr210Ala)
3g.122262251A>TCA354152839CASRc.1216A>T (p.Thr406Ser)
c.733A>T (p.Thr245Ser)
c.628A>T (p.Thr210Ser)
3g.122262252C>ACA354152842CASRc.1217C>A (p.Thr406Asn)
c.734C>A (p.Thr245Asn)
c.629C>A (p.Thr210Asn)
3g.122262252C>GCA354152843CASRc.1217C>G (p.Thr406Ser)
c.734C>G (p.Thr245Ser)
c.629C>G (p.Thr210Ser)
3g.122262252C>TCA354152844CASRc.1217C>T (p.Thr406Ile)
c.734C>T (p.Thr245Ile)
c.629C>T (p.Thr210Ile)
3g.122262253C>ACA435424698CASRc.1218C>A (p.Thr406=)
c.735C>A (p.Thr245=)
c.630C>A (p.Thr210=)
 ClinVar gnomAD v4
3g.122262253C>GCA435424697CASRc.1218C>G (p.Thr406=)
c.735C>G (p.Thr245=)
c.630C>G (p.Thr210=)
 ClinVar
3g.122262253C>TCA435424696CASRc.1218C>T (p.Thr406=)
c.735C>T (p.Thr245=)
c.630C>T (p.Thr210=)
3g.122262253_122262254delinsAGCA645532163CASRc.1218_1219delinsAG (p.Pro407Ala)
c.735_736delinsAG (p.Pro246Ala)
c.630_631delinsAG (p.Pro211Ala)
 COSMIC
3g.122262254C>ACA354152845CASRc.1219C>A (p.Pro407Thr)
c.736C>A (p.Pro246Thr)
c.631C>A (p.Pro211Thr)
3g.122262254C=CA1397873735CASRc.1219C= (p.Pro407=)
c.736C= (p.Pro246=)
c.631C= (p.Pro211=)
3g.122262254C>GCA82739012CASRc.1219C>G (p.Pro407Ala)
c.736C>G (p.Pro246Ala)
c.631C>G (p.Pro211Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262254C>TCA354152846CASRc.1219C>T (p.Pro407Ser)
c.736C>T (p.Pro246Ser)
c.631C>T (p.Pro211Ser)
3g.122262255C>ACA354152847CASRc.1220C>A (p.Pro407His)
c.737C>A (p.Pro246His)
c.632C>A (p.Pro211His)
3g.122262255C>GCA354152849CASRc.1220C>G (p.Pro407Arg)
c.737C>G (p.Pro246Arg)
c.632C>G (p.Pro211Arg)
 gnomAD v4
3g.122262255C>TCA354152848CASRc.1220C>T (p.Pro407Leu)
c.737C>T (p.Pro246Leu)
c.632C>T (p.Pro211Leu)
3g.122262256T>ACA435424705CASRc.1221T>A (p.Pro407=)
c.738T>A (p.Pro246=)
c.633T>A (p.Pro211=)
3g.122262256T>CCA435424706CASRc.1221T>C (p.Pro407=)
c.738T>C (p.Pro246=)
c.633T>C (p.Pro211=)
3g.122262256T>GCA435424708CASRc.1221T>G (p.Pro407=)
c.738T>G (p.Pro246=)
c.633T>G (p.Pro211=)
3g.122262257T>ACA354152850CASRc.1222T>A (p.Tyr408Asn)
c.739T>A (p.Tyr247Asn)
c.634T>A (p.Tyr212Asn)
3g.122262257T>CCA354152851CASRc.1222T>C (p.Tyr408His)
c.739T>C (p.Tyr247His)
c.634T>C (p.Tyr212His)
3g.122262257T>GCA354152852CASRc.1222T>G (p.Tyr408Asp)
c.739T>G (p.Tyr247Asp)
c.634T>G (p.Tyr212Asp)
3g.122262258A=CA1397873741CASRc.1223A= (p.Tyr408=)
c.740A= (p.Tyr247=)
c.635A= (p.Tyr212=)
3g.122262258A>CCA354152853CASRc.1223A>C (p.Tyr408Ser)
c.740A>C (p.Tyr247Ser)
c.635A>C (p.Tyr212Ser)
3g.122262258A>GCA354152854CASRc.1223A>G (p.Tyr408Cys)
c.740A>G (p.Tyr247Cys)
c.635A>G (p.Tyr212Cys)
 ClinVar dbSNP
3g.122262258A>TCA354152855CASRc.1223A>T (p.Tyr408Phe)
c.740A>T (p.Tyr247Phe)
c.635A>T (p.Tyr212Phe)
3g.122262259C>ACA354152856CASRc.1224C>A (p.Tyr408Ter)
c.741C>A (p.Tyr247Ter)
c.636C>A (p.Tyr212Ter)
3g.122262259C>GCA354152857CASRc.1224C>G (p.Tyr408Ter)
c.741C>G (p.Tyr247Ter)
c.636C>G (p.Tyr212Ter)
3g.122262259C>TCA435424712CASRc.1224C>T (p.Tyr408=)
c.741C>T (p.Tyr247=)
c.636C>T (p.Tyr212=)
 ClinVar dbSNP
3g.122262260A=CA1397873744CASRc.1225A= (p.Ile409=)
c.742A= (p.Ile248=)
c.637A= (p.Ile213=)
3g.122262260A>CCA354152858CASRc.1225A>C (p.Ile409Leu)
c.742A>C (p.Ile248Leu)
c.637A>C (p.Ile213Leu)
 ClinVar gnomAD v4
3g.122262260A>GCA354152859CASRc.1225A>G (p.Ile409Val)
c.742A>G (p.Ile248Val)
c.637A>G (p.Ile213Val)
 ClinVar dbSNP gnomAD v4
3g.122262260A>TCA354152860CASRc.1225A>T (p.Ile409Leu)
c.742A>T (p.Ile248Leu)
c.637A>T (p.Ile213Leu)
3g.122262261T>ACA354152861CASRc.1226T>A (p.Ile409Lys)
c.743T>A (p.Ile248Lys)
c.638T>A (p.Ile213Lys)
3g.122262261T>CCA354152863CASRc.1226T>C (p.Ile409Thr)
c.743T>C (p.Ile248Thr)
c.638T>C (p.Ile213Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262261T>GCA354152862CASRc.1226T>G (p.Ile409Arg)
c.743T>G (p.Ile248Arg)
c.638T>G (p.Ile213Arg)
3g.122262261T=CA1397873751CASRc.1226T= (p.Ile409=)
c.743T= (p.Ile248=)
c.638T= (p.Ile213=)
3g.122262262A>CCA435424718CASRc.1227A>C (p.Ile409=)
c.744A>C (p.Ile248=)
c.639A>C (p.Ile213=)
3g.122262262A>GCA354152864CASRc.1227A>G (p.Ile409Met)
c.744A>G (p.Ile248Met)
c.639A>G (p.Ile213Met)
3g.122262262A>TCA435424719CASRc.1227A>T (p.Ile409=)
c.744A>T (p.Ile248=)
c.639A>T (p.Ile213=)
3g.122262263G>ACA354152866CASRc.1228G>A (p.Asp410Asn)
c.745G>A (p.Asp249Asn)
c.640G>A (p.Asp214Asn)
3g.122262263G>CCA354152865CASRc.1228G>C (p.Asp410His)
c.745G>C (p.Asp249His)
c.640G>C (p.Asp214His)
3g.122262263G>TCA354152867CASRc.1228G>T (p.Asp410Tyr)
c.745G>T (p.Asp249Tyr)
c.640G>T (p.Asp214Tyr)
 gnomAD v4
3g.122262264A>CCA354152868CASRc.1229A>C (p.Asp410Ala)
c.746A>C (p.Asp249Ala)
c.641A>C (p.Asp214Ala)
3g.122262264A>GCA354152869CASRc.1229A>G (p.Asp410Gly)
c.746A>G (p.Asp249Gly)
c.641A>G (p.Asp214Gly)
3g.122262264A>TCA354152870CASRc.1229A>T (p.Asp410Val)
c.746A>T (p.Asp249Val)
c.641A>T (p.Asp214Val)
3g.122262265T>ACA354152871CASRc.1230T>A (p.Asp410Glu)
c.747T>A (p.Asp249Glu)
c.642T>A (p.Asp214Glu)
3g.122262265T>CCA435424725CASRc.1230T>C (p.Asp410=)
c.747T>C (p.Asp249=)
c.642T>C (p.Asp214=)
3g.122262265T>GCA354152872CASRc.1230T>G (p.Asp410Glu)
c.747T>G (p.Asp249Glu)
c.642T>G (p.Asp214Glu)
3g.122262266T>ACA354152873CASRc.1231T>A (p.Tyr411Asn)
c.748T>A (p.Tyr250Asn)
c.643T>A (p.Tyr215Asn)
 ClinVar
3g.122262266T>CCA354152874CASRc.1231T>C (p.Tyr411His)
c.748T>C (p.Tyr250His)
c.643T>C (p.Tyr215His)
3g.122262266T>GCA354152875CASRc.1231T>G (p.Tyr411Asp)
c.748T>G (p.Tyr250Asp)
c.643T>G (p.Tyr215Asp)
 ClinVar
3g.122262267A>CCA354152876CASRc.1232A>C (p.Tyr411Ser)
c.749A>C (p.Tyr250Ser)
c.644A>C (p.Tyr215Ser)
 ClinVar
3g.122262267A>GCA354152877CASRc.1232A>G (p.Tyr411Cys)
c.749A>G (p.Tyr250Cys)
c.644A>G (p.Tyr215Cys)
 ClinVar
3g.122262267A>TCA354152878CASRc.1232A>T (p.Tyr411Phe)
c.749A>T (p.Tyr250Phe)
c.644A>T (p.Tyr215Phe)
3g.122262268C>ACA354152879CASRc.1233C>A (p.Tyr411Ter)
c.750C>A (p.Tyr250Ter)
c.645C>A (p.Tyr215Ter)
3g.122262268C>GCA354152880CASRc.1233C>G (p.Tyr411Ter)
c.750C>G (p.Tyr250Ter)
c.645C>G (p.Tyr215Ter)
3g.122262268C>TCA435424730CASRc.1233C>T (p.Tyr411=)
c.750C>T (p.Tyr250=)
c.645C>T (p.Tyr215=)
 ClinVar dbSNP gnomAD v4
3g.122262269A=CA1397873755CASRc.1234A= (p.Thr412=)
c.751A= (p.Thr251=)
c.646A= (p.Thr216=)
3g.122262269A>CCA354152881CASRc.1234A>C (p.Thr412Pro)
c.751A>C (p.Thr251Pro)
c.646A>C (p.Thr216Pro)
3g.122262269A>GCA354152883CASRc.1234A>G (p.Thr412Ala)
c.751A>G (p.Thr251Ala)
c.646A>G (p.Thr216Ala)
 ClinVar dbSNP gnomAD v4
3g.122262269A>TCA354152882CASRc.1234A>T (p.Thr412Ser)
c.751A>T (p.Thr251Ser)
c.646A>T (p.Thr216Ser)
3g.122262270C>ACA354152884CASRc.1235C>A (p.Thr412Lys)
c.752C>A (p.Thr251Lys)
c.647C>A (p.Thr216Lys)
3g.122262270C=CA1397873758CASRc.1235C= (p.Thr412=)
c.752C= (p.Thr251=)
c.647C= (p.Thr216=)
3g.122262270C>GCA354152885CASRc.1235C>G (p.Thr412Arg)
c.752C>G (p.Thr251Arg)
c.647C>G (p.Thr216Arg)
3g.122262270C>TCA354152886CASRc.1235C>T (p.Thr412Met)
c.752C>T (p.Thr251Met)
c.647C>T (p.Thr216Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262271G>ACA435424731CASRc.1236G>A (p.Thr412=)
c.753G>A (p.Thr251=)
c.648G>A (p.Thr216=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262271G>CCA435424734CASRc.1236G>C (p.Thr412=)
c.753G>C (p.Thr251=)
c.648G>C (p.Thr216=)
 ClinVar
3g.122262271G=CA1397873766CASRc.1236G= (p.Thr412=)
c.753G= (p.Thr251=)
c.648G= (p.Thr216=)
3g.122262271G>TCA82739016CASRc.1236G>T (p.Thr412=)
c.753G>T (p.Thr251=)
c.648G>T (p.Thr216=)
 ClinVar dbSNP gnomAD v4
3g.122262272C>ACA354152887CASRc.1237C>A (p.His413Asn)
c.754C>A (p.His252Asn)
c.649C>A (p.His217Asn)
3g.122262272C>GCA354152888CASRc.1237C>G (p.His413Asp)
c.754C>G (p.His252Asp)
c.649C>G (p.His217Asp)
3g.122262272C>TCA354152889CASRc.1237C>T (p.His413Tyr)
c.754C>T (p.His252Tyr)
c.649C>T (p.His217Tyr)
 ClinVar dbSNP
3g.122262273A=CA1397873773CASRc.1238A= (p.His413=)
c.755A= (p.His252=)
c.650A= (p.His217=)
3g.122262273A>CCA354152890CASRc.1238A>C (p.His413Pro)
c.755A>C (p.His252Pro)
c.650A>C (p.His217Pro)
3g.122262273A>GCA354152891CASRc.1238A>G (p.His413Arg)
c.755A>G (p.His252Arg)
c.650A>G (p.His217Arg)
 gnomAD v4
3g.122262273A>TCA354152892CASRc.1238A>T (p.His413Leu)
c.755A>T (p.His252Leu)
c.650A>T (p.His217Leu)
 ClinVar dbSNP gnomAD v4
3g.122262274T>ACA354152894CASRc.1239T>A (p.His413Gln)
c.756T>A (p.His252Gln)
c.651T>A (p.His217Gln)
3g.122262274T>CCA435424736CASRc.1239T>C (p.His413=)
c.756T>C (p.His252=)
c.651T>C (p.His217=)
3g.122262274T>GCA354152893CASRc.1239T>G (p.His413Gln)
c.756T>G (p.His252Gln)
c.651T>G (p.His217Gln)
3g.122262275T>ACA354152895CASRc.1240T>A (p.Leu414Ile)
c.757T>A (p.Leu253Ile)
c.652T>A (p.Leu218Ile)
3g.122262275T>CCA435424737CASRc.1240T>C (p.Leu414=)
c.757T>C (p.Leu253=)
c.652T>C (p.Leu218=)
3g.122262275T>GCA354152896CASRc.1240T>G (p.Leu414Val)
c.757T>G (p.Leu253Val)
c.652T>G (p.Leu218Val)
3g.122262276T>ACA354152897CASRc.1241T>A (p.Leu414Ter)
c.758T>A (p.Leu253Ter)
c.653T>A (p.Leu218Ter)
3g.122262276T>CCA354152898CASRc.1241T>C (p.Leu414Ser)
c.758T>C (p.Leu253Ser)
c.653T>C (p.Leu218Ser)
3g.122262276T>GCA354152899CASRc.1241T>G (p.Leu414Ter)
c.758T>G (p.Leu253Ter)
c.653T>G (p.Leu218Ter)
3g.122262277A>CCA354152900CASRc.1242A>C (p.Leu414Phe)
c.759A>C (p.Leu253Phe)
c.654A>C (p.Leu218Phe)
3g.122262277A>GCA435424742CASRc.1242A>G (p.Leu414=)
c.759A>G (p.Leu253=)
c.654A>G (p.Leu218=)
3g.122262277A>TCA354152901CASRc.1242A>T (p.Leu414Phe)
c.759A>T (p.Leu253Phe)
c.654A>T (p.Leu218Phe)
3g.122262278C>ACA435424744CASRc.1243C>A (p.Arg415=)
c.760C>A (p.Arg254=)
c.655C>A (p.Arg219=)
3g.122262278C=CA1397873778CASRc.1243C= (p.Arg415=)
c.760C= (p.Arg254=)
c.655C= (p.Arg219=)
3g.122262278C>GCA354152902CASRc.1243C>G (p.Arg415Gly)
c.760C>G (p.Arg254Gly)
c.655C>G (p.Arg219Gly)
3g.122262278C>TCA354152903CASRc.1243C>T (p.Arg415Trp)
c.760C>T (p.Arg254Trp)
c.655C>T (p.Arg219Trp)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.122262279G>ACA213561CASRc.1244G>A (p.Arg415Gln)
c.761G>A (p.Arg254Gln)
c.656G>A (p.Arg219Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262279G>CCA354152904CASRc.1244G>C (p.Arg415Pro)
c.761G>C (p.Arg254Pro)
c.656G>C (p.Arg219Pro)
3g.122262279G=CA1397873783CASRc.1244G= (p.Arg415=)
c.761G= (p.Arg254=)
c.656G= (p.Arg219=)
3g.122262279G>TCA354152905CASRc.1244G>T (p.Arg415Leu)
c.761G>T (p.Arg254Leu)
c.656G>T (p.Arg219Leu)
3g.122262280G>ACA435424749CASRc.1245G>A (p.Arg415=)
c.762G>A (p.Arg254=)
c.657G>A (p.Arg219=)
 ClinVar
3g.122262280G>CCA435424752CASRc.1245G>C (p.Arg415=)
c.762G>C (p.Arg254=)
c.657G>C (p.Arg219=)
3g.122262280G>TCA435424754CASRc.1245G>T (p.Arg415=)
c.762G>T (p.Arg254=)
c.657G>T (p.Arg219=)
3g.122262281A>CCA354152907CASRc.1246A>C (p.Ile416Leu)
c.763A>C (p.Ile255Leu)
c.658A>C (p.Ile220Leu)
3g.122262281A>GCA354152908CASRc.1246A>G (p.Ile416Val)
c.763A>G (p.Ile255Val)
c.658A>G (p.Ile220Val)
3g.122262281A>TCA354152906CASRc.1246A>T (p.Ile416Leu)
c.763A>T (p.Ile255Leu)
c.658A>T (p.Ile220Leu)
3g.122262282T>ACA354152909CASRc.1247T>A (p.Ile416Lys)
c.764T>A (p.Ile255Lys)
c.659T>A (p.Ile220Lys)
3g.122262282T>CCA354152910CASRc.1247T>C (p.Ile416Thr)
c.764T>C (p.Ile255Thr)
c.659T>C (p.Ile220Thr)
3g.122262282T>GCA354152911CASRc.1247T>G (p.Ile416Arg)
c.764T>G (p.Ile255Arg)
c.659T>G (p.Ile220Arg)
3g.122262283A=CA1397873791CASRc.1248A= (p.Ile416=)
c.765A= (p.Ile255=)
c.660A= (p.Ile220=)
3g.122262283A>CCA435424759CASRc.1248A>C (p.Ile416=)
c.765A>C (p.Ile255=)
c.660A>C (p.Ile220=)
 dbSNP gnomAD v2
3g.122262283A>GCA354152912CASRc.1248A>G (p.Ile416Met)
c.765A>G (p.Ile255Met)
c.660A>G (p.Ile220Met)
3g.122262283A>TCA435424762CASRc.1248A>T (p.Ile416=)
c.765A>T (p.Ile255=)
c.660A>T (p.Ile220=)
3g.122262284T>ACA354152915CASRc.1249T>A (p.Ser417Thr)
c.766T>A (p.Ser256Thr)
c.661T>A (p.Ser221Thr)
 ClinVar
3g.122262284T>CCA354152914CASRc.1249T>C (p.Ser417Pro)
c.766T>C (p.Ser256Pro)
c.661T>C (p.Ser221Pro)
3g.122262284T>GCA354152913CASRc.1249T>G (p.Ser417Ala)
c.766T>G (p.Ser256Ala)
c.661T>G (p.Ser221Ala)
3g.122262285C>ACA354152916CASRc.1250C>A (p.Ser417Tyr)
c.767C>A (p.Ser256Tyr)
c.662C>A (p.Ser221Tyr)
3g.122262285C=CA1397873797CASRc.1250C= (p.Ser417=)
c.767C= (p.Ser256=)
c.662C= (p.Ser221=)
3g.122262285C>GCA354152917CASRc.1250C>G (p.Ser417Cys)
c.767C>G (p.Ser256Cys)
c.662C>G (p.Ser221Cys)
 ClinVar dbSNP gnomAD v4
3g.122262285C>TCA354152918CASRc.1250C>T (p.Ser417Phe)
c.767C>T (p.Ser256Phe)
c.662C>T (p.Ser221Phe)
 COSMIC
3g.122262286C>ACA435424771CASRc.1251C>A (p.Ser417=)
c.768C>A (p.Ser256=)
c.663C>A (p.Ser221=)
3g.122262286C>GCA435424773CASRc.1251C>G (p.Ser417=)
c.768C>G (p.Ser256=)
c.663C>G (p.Ser221=)
3g.122262286C>TCA435424774CASRc.1251C>T (p.Ser417=)
c.768C>T (p.Ser256=)
c.663C>T (p.Ser221=)
 ClinVar dbSNP
3g.122262287T>ACA354152919CASRc.1252T>A (p.Tyr418Asn)
c.769T>A (p.Tyr257Asn)
c.664T>A (p.Tyr222Asn)
3g.122262287T>CCA354152920CASRc.1252T>C (p.Tyr418His)
c.769T>C (p.Tyr257His)
c.664T>C (p.Tyr222His)
3g.122262287T>GCA354152921CASRc.1252T>G (p.Tyr418Asp)
c.769T>G (p.Tyr257Asp)
c.664T>G (p.Tyr222Asp)
3g.122262288A>CCA354152924CASRc.1253A>C (p.Tyr418Ser)
c.770A>C (p.Tyr257Ser)
c.665A>C (p.Tyr222Ser)
3g.122262288A>GCA354152923CASRc.1253A>G (p.Tyr418Cys)
c.770A>G (p.Tyr257Cys)
c.665A>G (p.Tyr222Cys)
3g.122262288A>TCA354152922CASRc.1253A>T (p.Tyr418Phe)
c.770A>T (p.Tyr257Phe)
c.665A>T (p.Tyr222Phe)
3g.122262289C>ACA354152925CASRc.1254C>A (p.Tyr418Ter)
c.771C>A (p.Tyr257Ter)
c.666C>A (p.Tyr222Ter)
3g.122262289C=CA1397873800CASRc.1254C= (p.Tyr418=)
c.771C= (p.Tyr257=)
c.666C= (p.Tyr222=)
3g.122262289C>GCA354152926CASRc.1254C>G (p.Tyr418Ter)
c.771C>G (p.Tyr257Ter)
c.666C>G (p.Tyr222Ter)
3g.122262289C>TCA435424779CASRc.1254C>T (p.Tyr418=)
c.771C>T (p.Tyr257=)
c.666C>T (p.Tyr222=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262290A>CCA354152927CASRc.1255A>C (p.Asn419His)
c.772A>C (p.Asn258His)
c.667A>C (p.Asn223His)
3g.122262290A>GCA354152928CASRc.1255A>G (p.Asn419Asp)
c.772A>G (p.Asn258Asp)
c.667A>G (p.Asn223Asp)
3g.122262290A>TCA354152929CASRc.1255A>T (p.Asn419Tyr)
c.772A>T (p.Asn258Tyr)
c.667A>T (p.Asn223Tyr)
3g.122262291A>CCA354152930CASRc.1256A>C (p.Asn419Thr)
c.773A>C (p.Asn258Thr)
c.668A>C (p.Asn223Thr)
3g.122262291A>GCA354152931CASRc.1256A>G (p.Asn419Ser)
c.773A>G (p.Asn258Ser)
c.668A>G (p.Asn223Ser)
3g.122262291A>TCA354152932CASRc.1256A>T (p.Asn419Ile)
c.773A>T (p.Asn258Ile)
c.668A>T (p.Asn223Ile)
3g.122262292T>ACA354152934CASRc.1257T>A (p.Asn419Lys)
c.774T>A (p.Asn258Lys)
c.669T>A (p.Asn223Lys)
3g.122262292T>CCA435424784CASRc.1257T>C (p.Asn419=)
c.774T>C (p.Asn258=)
c.669T>C (p.Asn223=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262292T>GCA354152933CASRc.1257T>G (p.Asn419Lys)
c.774T>G (p.Asn258Lys)
c.669T>G (p.Asn223Lys)
3g.122262292T=CA1397873804CASRc.1257T= (p.Asn419=)
c.774T= (p.Asn258=)
c.669T= (p.Asn223=)
3g.122262293G>ACA354152935CASRc.1258G>A (p.Val420Met)
c.775G>A (p.Val259Met)
c.670G>A (p.Val224Met)
 ClinVar dbSNP
3g.122262293G>CCA354152936CASRc.1258G>C (p.Val420Leu)
c.775G>C (p.Val259Leu)
c.670G>C (p.Val224Leu)
3g.122262293G>TCA354152937CASRc.1258G>T (p.Val420Leu)
c.775G>T (p.Val259Leu)
c.670G>T (p.Val224Leu)
3g.122262294T>ACA354152938CASRc.1259T>A (p.Val420Glu)
c.776T>A (p.Val259Glu)
c.671T>A (p.Val224Glu)
 ClinVar
3g.122262294T>CCA354152939CASRc.1259T>C (p.Val420Ala)
c.776T>C (p.Val259Ala)
c.671T>C (p.Val224Ala)
3g.122262294T>GCA354152940CASRc.1259T>G (p.Val420Gly)
c.776T>G (p.Val259Gly)
c.671T>G (p.Val224Gly)
3g.122262295G>ACA435424793CASRc.1260G>A (p.Val420=)
c.777G>A (p.Val259=)
c.672G>A (p.Val224=)
 ClinVar
3g.122262295G>CCA435424789CASRc.1260G>C (p.Val420=)
c.777G>C (p.Val259=)
c.672G>C (p.Val224=)
 dbSNP
3g.122262295G=CA1397873807CASRc.1260G= (p.Val420=)
c.777G= (p.Val259=)
c.672G= (p.Val224=)
3g.122262295G>TCA435424790CASRc.1260G>T (p.Val420=)
c.777G>T (p.Val259=)
c.672G>T (p.Val224=)
 dbSNP
3g.122262296T>ACA354152941CASRc.1261T>A (p.Tyr421Asn)
c.778T>A (p.Tyr260Asn)
c.673T>A (p.Tyr225Asn)
3g.122262296T>CCA354152943CASRc.1261T>C (p.Tyr421His)
c.778T>C (p.Tyr260His)
c.673T>C (p.Tyr225His)
3g.122262296T>GCA354152942CASRc.1261T>G (p.Tyr421Asp)
c.778T>G (p.Tyr260Asp)
c.673T>G (p.Tyr225Asp)
 ClinVar
3g.122262297A>CCA354152944CASRc.1262A>C (p.Tyr421Ser)
c.779A>C (p.Tyr260Ser)
c.674A>C (p.Tyr225Ser)
3g.122262297A>GCA354152945CASRc.1262A>G (p.Tyr421Cys)
c.779A>G (p.Tyr260Cys)
c.674A>G (p.Tyr225Cys)
 ClinVar dbSNP
3g.122262297A>TCA354152946CASRc.1262A>T (p.Tyr421Phe)
c.779A>T (p.Tyr260Phe)
c.674A>T (p.Tyr225Phe)
3g.122262298C>ACA354152947CASRc.1263C>A (p.Tyr421Ter)
c.780C>A (p.Tyr260Ter)
c.675C>A (p.Tyr225Ter)
3g.122262298C>GCA354152948CASRc.1263C>G (p.Tyr421Ter)
c.780C>G (p.Tyr260Ter)
c.675C>G (p.Tyr225Ter)
3g.122262298C>TCA435424800CASRc.1263C>T (p.Tyr421=)
c.780C>T (p.Tyr260=)
c.675C>T (p.Tyr225=)
3g.122262299T>ACA354152949CASRc.1264T>A (p.Leu422Ile)
c.781T>A (p.Leu261Ile)
c.676T>A (p.Leu226Ile)
3g.122262299T>CCA435424801CASRc.1264T>C (p.Leu422=)
c.781T>C (p.Leu261=)
c.676T>C (p.Leu226=)
 dbSNP
3g.122262299T>GCA354152950CASRc.1264T>G (p.Leu422Val)
c.781T>G (p.Leu261Val)
c.676T>G (p.Leu226Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262299T=CA1397873813CASRc.1264T= (p.Leu422=)
c.781T= (p.Leu261=)
c.676T= (p.Leu226=)
3g.122262300T>ACA354152951CASRc.1265T>A (p.Leu422Ter)
c.782T>A (p.Leu261Ter)
c.677T>A (p.Leu226Ter)
3g.122262300T>CCA354152952CASRc.1265T>C (p.Leu422Ser)
c.782T>C (p.Leu261Ser)
c.677T>C (p.Leu226Ser)
3g.122262300T>GCA354152953CASRc.1265T>G (p.Leu422Ter)
c.782T>G (p.Leu261Ter)
c.677T>G (p.Leu226Ter)
3g.122262300_122262303delinsTAGCCA1397873816CASRc.1265_1268delinsTAGC (p.Leu422=)
c.782_785delinsTAGC (p.Leu261=)
c.677_680delinsTAGC (p.Leu226=)
3g.122262301A>CCA354152955CASRc.1266A>C (p.Leu422Phe)
c.783A>C (p.Leu261Phe)
c.678A>C (p.Leu226Phe)
3g.122262301A>GCA435424804CASRc.1266A>G (p.Leu422=)
c.783A>G (p.Leu261=)
c.678A>G (p.Leu226=)
 ClinVar gnomAD v4
3g.122262301A>TCA354152954CASRc.1266A>T (p.Leu422Phe)
c.783A>T (p.Leu261Phe)
c.678A>T (p.Leu226Phe)
3g.122262303_122262305delCA2569614CASRc.1268_1270del (p.Ala423del)
c.785_787del (p.Ala262del)
c.680_682del (p.Ala227del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262302G>ACA354152956CASRc.1267G>A (p.Ala423Thr)
c.784G>A (p.Ala262Thr)
c.679G>A (p.Ala227Thr)
 ClinVar dbSNP gnomAD v4
3g.122262302G>CCA354152957CASRc.1267G>C (p.Ala423Pro)
c.784G>C (p.Ala262Pro)
c.679G>C (p.Ala227Pro)
3g.122262302G=CA1397873822CASRc.1267G= (p.Ala423=)
c.784G= (p.Ala262=)
c.679G= (p.Ala227=)
3g.122262302G>TCA354152958CASRc.1267G>T (p.Ala423Ser)
c.784G>T (p.Ala262Ser)
c.679G>T (p.Ala227Ser)
 ClinVar
3g.122262302_122262303delinsAACA2586972809CASRc.1267_1268delinsAA (p.Ala423Lys)
c.784_785delinsAA (p.Ala262Lys)
c.679_680delinsAA (p.Ala227Lys)
3g.122262303C>ACA354152959CASRc.1268C>A (p.Ala423Glu)
c.785C>A (p.Ala262Glu)
c.680C>A (p.Ala227Glu)
 ClinVar dbSNP
3g.122262303C>GCA354152960CASRc.1268C>G (p.Ala423Gly)
c.785C>G (p.Ala262Gly)
c.680C>G (p.Ala227Gly)
3g.122262303C>TCA354152961CASRc.1268C>T (p.Ala423Val)
c.785C>T (p.Ala262Val)
c.680C>T (p.Ala227Val)
 gnomAD v4
3g.122262304A>CCA435424812CASRc.1269A>C (p.Ala423=)
c.786A>C (p.Ala262=)
c.681A>C (p.Ala227=)
3g.122262304A>GCA435424813CASRc.1269A>G (p.Ala423=)
c.786A>G (p.Ala262=)
c.681A>G (p.Ala227=)
 ClinVar
3g.122262304A>TCA435424814CASRc.1269A>T (p.Ala423=)
c.786A>T (p.Ala262=)
c.681A>T (p.Ala227=)
3g.122262305G>ACA354152962CASRc.1270G>A (p.Val424Ile)
c.787G>A (p.Val263Ile)
c.682G>A (p.Val228Ile)
 COSMIC
3g.122262305G>CCA354152963CASRc.1270G>C (p.Val424Leu)
c.787G>C (p.Val263Leu)
c.682G>C (p.Val228Leu)
3g.122262305G>TCA354152964CASRc.1270G>T (p.Val424Phe)
c.787G>T (p.Val263Phe)
c.682G>T (p.Val228Phe)
3g.122262306T>ACA354152965CASRc.1271T>A (p.Val424Asp)
c.788T>A (p.Val263Asp)
c.683T>A (p.Val228Asp)
3g.122262306T>CCA354152966CASRc.1271T>C (p.Val424Ala)
c.788T>C (p.Val263Ala)
c.683T>C (p.Val228Ala)
3g.122262306T>GCA354152967CASRc.1271T>G (p.Val424Gly)
c.788T>G (p.Val263Gly)
c.683T>G (p.Val228Gly)
3g.122262307C>ACA435424818CASRc.1272C>A (p.Val424=)
c.789C>A (p.Val263=)
c.684C>A (p.Val228=)
3g.122262307C=CA1397873824CASRc.1272C= (p.Val424=)
c.789C= (p.Val263=)
c.684C= (p.Val228=)
3g.122262307C>GCA435424819CASRc.1272C>G (p.Val424=)
c.789C>G (p.Val263=)
c.684C>G (p.Val228=)
3g.122262307C>TCA435424820CASRc.1272C>T (p.Val424=)
c.789C>T (p.Val263=)
c.684C>T (p.Val228=)
 dbSNP
3g.122262308T>ACA354152970CASRc.1273T>A (p.Tyr425Asn)
c.790T>A (p.Tyr264Asn)
c.685T>A (p.Tyr229Asn)
3g.122262308T>CCA354152969CASRc.1273T>C (p.Tyr425His)
c.790T>C (p.Tyr264His)
c.685T>C (p.Tyr229His)
3g.122262308T>GCA354152968CASRc.1273T>G (p.Tyr425Asp)
c.790T>G (p.Tyr264Asp)
c.685T>G (p.Tyr229Asp)
3g.122262309A>CCA354152971CASRc.1274A>C (p.Tyr425Ser)
c.791A>C (p.Tyr264Ser)
c.686A>C (p.Tyr229Ser)
3g.122262309A>GCA354152972CASRc.1274A>G (p.Tyr425Cys)
c.791A>G (p.Tyr264Cys)
c.686A>G (p.Tyr229Cys)
3g.122262309A>TCA354152973CASRc.1274A>T (p.Tyr425Phe)
c.791A>T (p.Tyr264Phe)
c.686A>T (p.Tyr229Phe)
3g.122262310C>ACA354152974CASRc.1275C>A (p.Tyr425Ter)
c.792C>A (p.Tyr264Ter)
c.687C>A (p.Tyr229Ter)
3g.122262310C>GCA354152975CASRc.1275C>G (p.Tyr425Ter)
c.792C>G (p.Tyr264Ter)
c.687C>G (p.Tyr229Ter)
3g.122262310C>TCA435424829CASRc.1275C>T (p.Tyr425=)
c.792C>T (p.Tyr264=)
c.687C>T (p.Tyr229=)
3g.122262311T>ACA354152976CASRc.1276T>A (p.Ser426Thr)
c.793T>A (p.Ser265Thr)
c.688T>A (p.Ser230Thr)
3g.122262311T>CCA354152977CASRc.1276T>C (p.Ser426Pro)
c.793T>C (p.Ser265Pro)
c.688T>C (p.Ser230Pro)
3g.122262311T>GCA354152978CASRc.1276T>G (p.Ser426Ala)
c.793T>G (p.Ser265Ala)
c.688T>G (p.Ser230Ala)
3g.122262312C>ACA354152979CASRc.1277C>A (p.Ser426Tyr)
c.794C>A (p.Ser265Tyr)
c.689C>A (p.Ser230Tyr)
3g.122262312C>GCA354152980CASRc.1277C>G (p.Ser426Cys)
c.794C>G (p.Ser265Cys)
c.689C>G (p.Ser230Cys)
3g.122262312C>TCA354152981CASRc.1277C>T (p.Ser426Phe)
c.794C>T (p.Ser265Phe)
c.689C>T (p.Ser230Phe)
3g.122262313delCA2586972810CASRc.1278del (p.Ile427LeufsTer?)
c.795del (p.Ile266LeufsTer?)
c.690del (p.Ile231LeufsTer?)
3g.122262313C>ACA435424838CASRc.1278C>A (p.Ser426=)
c.795C>A (p.Ser265=)
c.690C>A (p.Ser230=)
3g.122262313C=CA1397873826CASRc.1278C= (p.Ser426=)
c.795C= (p.Ser265=)
c.690C= (p.Ser230=)
3g.122262313C>GCA435424839CASRc.1278C>G (p.Ser426=)
c.795C>G (p.Ser265=)
c.690C>G (p.Ser230=)
 ClinVar
3g.122262313C>TCA2569615CASRc.1278C>T (p.Ser426=)
c.795C>T (p.Ser265=)
c.690C>T (p.Ser230=)
 ClinVar dbSNP ExAC gnomAD v2
3g.122262314A=CA1397873830CASRc.1279A= (p.Ile427=)
c.796A= (p.Ile266=)
c.691A= (p.Ile231=)
3g.122262314A>CCA354152984CASRc.1279A>C (p.Ile427Leu)
c.796A>C (p.Ile266Leu)
c.691A>C (p.Ile231Leu)
 ClinVar
3g.122262314A>GCA354152983CASRc.1279A>G (p.Ile427Val)
c.796A>G (p.Ile266Val)
c.691A>G (p.Ile231Val)
 ClinVar dbSNP
3g.122262314A>TCA354152982CASRc.1279A>T (p.Ile427Phe)
c.796A>T (p.Ile266Phe)
c.691A>T (p.Ile231Phe)
3g.122262315T>ACA354152985CASRc.1280T>A (p.Ile427Asn)
c.797T>A (p.Ile266Asn)
c.692T>A (p.Ile231Asn)
3g.122262315T>CCA354152987CASRc.1280T>C (p.Ile427Thr)
c.797T>C (p.Ile266Thr)
c.692T>C (p.Ile231Thr)
 ClinVar dbSNP gnomAD v4
3g.122262315T>GCA354152986CASRc.1280T>G (p.Ile427Ser)
c.797T>G (p.Ile266Ser)
c.692T>G (p.Ile231Ser)
3g.122262315T=CA1397873835CASRc.1280T= (p.Ile427=)
c.797T= (p.Ile266=)
c.692T= (p.Ile231=)
3g.122262316T>ACA435424844CASRc.1281T>A (p.Ile427=)
c.798T>A (p.Ile266=)
c.693T>A (p.Ile231=)
3g.122262316T>CCA2569616CASRc.1281T>C (p.Ile427=)
c.798T>C (p.Ile266=)
c.693T>C (p.Ile231=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262316T>GCA354152988CASRc.1281T>G (p.Ile427Met)
c.798T>G (p.Ile266Met)
c.693T>G (p.Ile231Met)
 ClinVar gnomAD v4
3g.122262316T=CA1397873848CASRc.1281T= (p.Ile427=)
c.798T= (p.Ile266=)
c.693T= (p.Ile231=)
3g.122262317G>ACA354152989CASRc.1282G>A (p.Ala428Thr)
c.799G>A (p.Ala267Thr)
c.694G>A (p.Ala232Thr)
3g.122262317G>CCA354152991CASRc.1282G>C (p.Ala428Pro)
c.799G>C (p.Ala267Pro)
c.694G>C (p.Ala232Pro)
3g.122262317G>TCA354152990CASRc.1282G>T (p.Ala428Ser)
c.799G>T (p.Ala267Ser)
c.694G>T (p.Ala232Ser)
3g.122262318C>ACA354152992CASRc.1283C>A (p.Ala428Asp)
c.800C>A (p.Ala267Asp)
c.695C>A (p.Ala232Asp)
 ClinVar dbSNP
3g.122262318C=CA1397873853CASRc.1283C= (p.Ala428=)
c.800C= (p.Ala267=)
c.695C= (p.Ala232=)
3g.122262318C>GCA354152993CASRc.1283C>G (p.Ala428Gly)
c.800C>G (p.Ala267Gly)
c.695C>G (p.Ala232Gly)
3g.122262318C>TCA16611300CASRc.1283C>T (p.Ala428Val)
c.800C>T (p.Ala267Val)
c.695C>T (p.Ala232Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.122262319C>ACA435424855CASRc.1284C>A (p.Ala428=)
c.801C>A (p.Ala267=)
c.696C>A (p.Ala232=)
3g.122262319C>GCA435424854CASRc.1284C>G (p.Ala428=)
c.801C>G (p.Ala267=)
c.696C>G (p.Ala232=)
3g.122262319C>TCA435424853CASRc.1284C>T (p.Ala428=)
c.801C>T (p.Ala267=)
c.696C>T (p.Ala232=)
 ClinVar dbSNP gnomAD v4
3g.122262320C>ACA354152994CASRc.1285C>A (p.His429Asn)
c.802C>A (p.His268Asn)
c.697C>A (p.His233Asn)
3g.122262320C=CA1397873860CASRc.1285C= (p.His429=)
c.802C= (p.His268=)
c.697C= (p.His233=)
3g.122262320C>GCA354152995CASRc.1285C>G (p.His429Asp)
c.802C>G (p.His268Asp)
c.697C>G (p.His233Asp)
3g.122262320C>TCA2569617CASRc.1285C>T (p.His429Tyr)
c.802C>T (p.His268Tyr)
c.697C>T (p.His233Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262321A>CCA354152996CASRc.1286A>C (p.His429Pro)
c.803A>C (p.His268Pro)
c.698A>C (p.His233Pro)
3g.122262321A>GCA354152997CASRc.1286A>G (p.His429Arg)
c.803A>G (p.His268Arg)
c.698A>G (p.His233Arg)
 ClinVar
3g.122262321A>TCA354152998CASRc.1286A>T (p.His429Leu)
c.803A>T (p.His268Leu)
c.698A>T (p.His233Leu)
3g.122262322C>ACA2569619CASRc.1287C>A (p.His429Gln)
c.804C>A (p.His268Gln)
c.699C>A (p.His233Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262322C=CA1397873871CASRc.1287C= (p.His429=)
c.804C= (p.His268=)
c.699C= (p.His233=)
3g.122262322C>GCA354152999CASRc.1287C>G (p.His429Gln)
c.804C>G (p.His268Gln)
c.699C>G (p.His233Gln)
3g.122262322C>TCA2569618CASRc.1287C>T (p.His429=)
c.804C>T (p.His268=)
c.699C>T (p.His233=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.122262322_122262323insACA2740094567CASRc.1287_1288insA (p.Ala430SerfsTer27)
c.804_805insA (p.Ala269SerfsTer27)
c.699_700insA (p.Ala234SerfsTer27)
 ClinVar
3g.122262323G>ACA82739075CASRc.1288G>A (p.Ala430Thr)
c.805G>A (p.Ala269Thr)
c.700G>A (p.Ala234Thr)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.122262323G>CCA354153000CASRc.1288G>C (p.Ala430Pro)
c.805G>C (p.Ala269Pro)
c.700G>C (p.Ala234Pro)
3g.122262323G=CA1397873881CASRc.1288G= (p.Ala430=)
c.805G= (p.Ala269=)
c.700G= (p.Ala234=)
3g.122262323G>TCA82739080CASRc.1288G>T (p.Ala430Ser)
c.805G>T (p.Ala269Ser)
c.700G>T (p.Ala234Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.122262324C>ACA354153001CASRc.1289C>A (p.Ala430Asp)
c.806C>A (p.Ala269Asp)
c.701C>A (p.Ala234Asp)
3g.122262324C>GCA354153002CASRc.1289C>G (p.Ala430Gly)
c.806C>G (p.Ala269Gly)
c.701C>G (p.Ala234Gly)
3g.122262324C>TCA354153003CASRc.1289C>T (p.Ala430Val)
c.806C>T (p.Ala269Val)
c.701C>T (p.Ala234Val)
3g.122262325C>ACA435424868CASRc.1290C>A (p.Ala430=)
c.807C>A (p.Ala269=)
c.702C>A (p.Ala234=)
3g.122262325C>GCA435424871CASRc.1290C>G (p.Ala430=)
c.807C>G (p.Ala269=)
c.702C>G (p.Ala234=)
3g.122262325C>TCA435424870CASRc.1290C>T (p.Ala430=)
c.807C>T (p.Ala269=)
c.702C>T (p.Ala234=)
3g.122262326T>ACA354153004CASRc.1291T>A (p.Leu431Met)
c.808T>A (p.Leu270Met)
c.703T>A (p.Leu235Met)
3g.122262326T>CCA435424872CASRc.1291T>C (p.Leu431=)
c.808T>C (p.Leu270=)
c.703T>C (p.Leu235=)
 gnomAD v4
3g.122262326T>GCA354153005CASRc.1291T>G (p.Leu431Val)
c.808T>G (p.Leu270Val)
c.703T>G (p.Leu235Val)
3g.122262327T>ACA354153006CASRc.1292T>A (p.Leu431Ter)
c.809T>A (p.Leu270Ter)
c.704T>A (p.Leu235Ter)
3g.122262327T>CCA354153007CASRc.1292T>C (p.Leu431Ser)
c.809T>C (p.Leu270Ser)
c.704T>C (p.Leu235Ser)
3g.122262327T>GCA354153008CASRc.1292T>G (p.Leu431Trp)
c.809T>G (p.Leu270Trp)
c.704T>G (p.Leu235Trp)
3g.122262328G>ACA435424878CASRc.1293G>A (p.Leu431=)
c.810G>A (p.Leu270=)
c.705G>A (p.Leu235=)
 ClinVar dbSNP gnomAD v4
3g.122262328G>CCA354153009CASRc.1293G>C (p.Leu431Phe)
c.810G>C (p.Leu270Phe)
c.705G>C (p.Leu235Phe)
3g.122262328G>TCA354153010CASRc.1293G>T (p.Leu431Phe)
c.810G>T (p.Leu270Phe)
c.705G>T (p.Leu235Phe)
3g.122262329C>ACA354153011CASRc.1294C>A (p.Gln432Lys)
c.811C>A (p.Gln271Lys)
c.706C>A (p.Gln236Lys)
3g.122262329C>GCA354153012CASRc.1294C>G (p.Gln432Glu)
c.811C>G (p.Gln271Glu)
c.706C>G (p.Gln236Glu)
3g.122262329C>TCA354153013CASRc.1294C>T (p.Gln432Ter)
c.811C>T (p.Gln271Ter)
c.706C>T (p.Gln236Ter)
 COSMIC
3g.122262330A>CCA354153014CASRc.1295A>C (p.Gln432Pro)
c.812A>C (p.Gln271Pro)
c.707A>C (p.Gln236Pro)
 ClinVar
3g.122262330A>GCA354153015CASRc.1295A>G (p.Gln432Arg)
c.812A>G (p.Gln271Arg)
c.707A>G (p.Gln236Arg)
3g.122262330A>TCA354153016CASRc.1295A>T (p.Gln432Leu)
c.812A>T (p.Gln271Leu)
c.707A>T (p.Gln236Leu)
3g.122262331A>CCA354153017CASRc.1296A>C (p.Gln432His)
c.813A>C (p.Gln271His)
c.708A>C (p.Gln236His)
3g.122262331A>GCA435424895CASRc.1296A>G (p.Gln432=)
c.813A>G (p.Gln271=)
c.708A>G (p.Gln236=)
 ClinVar
3g.122262331A>TCA354153018CASRc.1296A>T (p.Gln432His)
c.813A>T (p.Gln271His)
c.708A>T (p.Gln236His)
3g.122262332G>ACA354153019CASRc.1297G>A (p.Asp433Asn)
c.814G>A (p.Asp272Asn)
c.709G>A (p.Asp237Asn)
3g.122262332G>CCA2569620CASRc.1297G>C (p.Asp433His)
c.814G>C (p.Asp272His)
c.709G>C (p.Asp237His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.122262332G=CA1397873887CASRc.1297G= (p.Asp433=)
c.814G= (p.Asp272=)
c.709G= (p.Asp237=)
3g.122262332G>TCA2569621CASRc.1297G>T (p.Asp433Tyr)
c.814G>T (p.Asp272Tyr)
c.709G>T (p.Asp237Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.122262333A>CCA354153020CASRc.1298A>C (p.Asp433Ala)
c.815A>C (p.Asp272Ala)
c.710A>C (p.Asp237Ala)
3g.122262333A>GCA354153021CASRc.1298A>G (p.Asp433Gly)
c.815A>G (p.Asp272Gly)
c.710A>G (p.Asp237Gly)
3g.122262333A>TCA354153022CASRc.1298A>T (p.Asp433Val)
c.815A>T (p.Asp272Val)
c.710A>T (p.Asp237Val)
 gnomAD v4
3g.122262340_122262341dupCA2580574405CASRc.1305_1306dup (p.Thr436IlefsTer?)
c.1305_1306dup (p.Thr436IlefsTer27)
c.822_823dup (p.Thr275IlefsTer27)
c.717_718dup (p.Thr240IlefsTer27)
3g.122262336_122262341delCA2695199275CASRc.1301_1306del (p.Ile434_Tyr435del)
c.818_823del (p.Ile273_Tyr274del)
c.713_718del (p.Ile238_Tyr239del)
 ClinVar
3g.122262334T>ACA354153023CASRc.1299T>A (p.Asp433Glu)
c.816T>A (p.Asp272Glu)
c.711T>A (p.Asp237Glu)
3g.122262334T>CCA435424912CASRc.1299T>C (p.Asp433=)
c.816T>C (p.Asp272=)
c.711T>C (p.Asp237=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.122262334T>GCA354153024CASRc.1299T>G (p.Asp433Glu)
c.816T>G (p.Asp272Glu)
c.711T>G (p.Asp237Glu)
3g.122262334T=CA1397873894CASRc.1299T= (p.Asp433=)
c.816T= (p.Asp272=)
c.711T= (p.Asp237=)
3g.122262335A>CCA354153025CASRc.1300A>C (p.Ile434Leu)
c.817A>C (p.Ile273Leu)
c.712A>C (p.Ile238Leu)
 gnomAD v4
3g.122262335A>GCA354153026CASRc.1300A>G (p.Ile434Val)
c.817A>G (p.Ile273Val)
c.712A>G (p.Ile238Val)
3g.122262335A>TCA354153027CASRc.1300A>T (p.Ile434Leu)
c.817A>T (p.Ile273Leu)
c.712A>T (p.Ile238Leu)
3g.122262336T>ACA354153030CASRc.1301T>A (p.Ile434Lys)
c.818T>A (p.Ile273Lys)
c.713T>A (p.Ile238Lys)
3g.122262336T>CCA354153029CASRc.1301T>C (p.Ile434Thr)
c.818T>C (p.Ile273Thr)
c.713T>C (p.Ile238Thr)
 ClinVar dbSNP
3g.122262336T>GCA354153028CASRc.1301T>G (p.Ile434Arg)
c.818T>G (p.Ile273Arg)
c.713T>G (p.Ile238Arg)
3g.122262336T=CA1397873896CASRc.1301T= (p.Ile434=)
c.818T= (p.Ile273=)
c.713T= (p.Ile238=)
3g.122262337A=CA1397873903CASRc.1302A= (p.Ile434=)
c.819A= (p.Ile273=)
c.714A= (p.Ile238=)
3g.122262337A>CCA435424919CASRc.1302A>C (p.Ile434=)
c.819A>C (p.Ile273=)
c.714A>C (p.Ile238=)
 gnomAD v4
3g.122262337A>GCA354153031CASRc.1302A>G (p.Ile434Met)
c.819A>G (p.Ile273Met)
c.714A>G (p.Ile238Met)
 ClinVar dbSNP gnomAD v4
3g.122262337A>TCA435424921CASRc.1302A>T (p.Ile434=)
c.819A>T (p.Ile273=)
c.714A>T (p.Ile238=)
3g.122262338T>ACA354153032CASRc.1303T>A (p.Tyr435Asn)
c.820T>A (p.Tyr274Asn)
c.715T>A (p.Tyr239Asn)
3g.122262338T>CCA354153033CASRc.1303T>C (p.Tyr435His)
c.820T>C (p.Tyr274His)
c.715T>C (p.Tyr239His)
 dbSNP gnomAD v2 gnomAD v4
3g.122262338T>GCA354153034CASRc.1303T>G (p.Tyr435Asp)
c.820T>G (p.Tyr274Asp)
c.715T>G (p.Tyr239Asp)
3g.122262338T=CA1397873906CASRc.1303T= (p.Tyr435=)
c.820T= (p.Tyr274=)
c.715T= (p.Tyr239=)
3g.122262339A=CA1397873909CASRc.1304A= (p.Tyr435=)
c.821A= (p.Tyr274=)
c.716A= (p.Tyr239=)
3g.122262339A>CCA354153035CASRc.1304A>C (p.Tyr435Ser)
c.821A>C (p.Tyr274Ser)
c.716A>C (p.Tyr239Ser)
 gnomAD v4
3g.122262339A>GCA354153036CASRc.1304A>G (p.Tyr435Cys)
c.821A>G (p.Tyr274Cys)
c.716A>G (p.Tyr239Cys)
 ClinVar
3g.122262339A>TCA354153037CASRc.1304A>T (p.Tyr435Phe)
c.821A>T (p.Tyr274Phe)
c.716A>T (p.Tyr239Phe)
 ClinVar dbSNP COSMIC
3g.122262340T>ACA354153038CASRc.1305T>A (p.Tyr435Ter)
c.822T>A (p.Tyr274Ter)
c.717T>A (p.Tyr239Ter)
3g.122262340T>CCA435424934CASRc.1305T>C (p.Tyr435=)
c.822T>C (p.Tyr274=)
c.717T>C (p.Tyr239=)
 ClinVar dbSNP
3g.122262340T>GCA354153039CASRc.1305T>G (p.Tyr435Ter)
c.822T>G (p.Tyr274Ter)
c.717T>G (p.Tyr239Ter)
3g.122262340T=CA1397873916CASRc.1305T= (p.Tyr435=)
c.822T= (p.Tyr274=)
c.717T= (p.Tyr239=)
3g.122262341A>CCA354153040CASRc.1306A>C (p.Thr436Pro)
c.823A>C (p.Thr275Pro)
c.718A>C (p.Thr240Pro)
3g.122262341A>GCA354153041CASRc.1306A>G (p.Thr436Ala)
c.823A>G (p.Thr275Ala)
c.718A>G (p.Thr240Ala)
3g.122262341A>TCA354153042CASRc.1306A>T (p.Thr436Ser)
c.823A>T (p.Thr275Ser)
c.718A>T (p.Thr240Ser)
3g.122262341_122262342delCA2667225082CASRc.1306_1307del (p.Thr436LeufsTer20)
c.823_824del (p.Thr275LeufsTer20)
c.718_719del (p.Thr240LeufsTer20)
 gnomAD v4
3g.122262342C>ACA354153044CASRc.1307C>A (p.Thr436Asn)
c.824C>A (p.Thr275Asn)
c.719C>A (p.Thr240Asn)
 dbSNP
3g.122262342C=CA1397873922CASRc.1307C= (p.Thr436=)
c.824C= (p.Thr275=)
c.719C= (p.Thr240=)
3g.122262342C>GCA354153045CASRc.1307C>G (p.Thr436Ser)
c.824C>G (p.Thr275Ser)
c.719C>G (p.Thr240Ser)
 ClinVar dbSNP
3g.122262342C>TCA354153043CASRc.1307C>T (p.Thr436Ile)
c.824C>T (p.Thr275Ile)
c.719C>T (p.Thr240Ile)
3g.122262343C>ACA435424941CASRc.1308C>A (p.Thr436=)
c.825C>A (p.Thr275=)
c.720C>A (p.Thr240=)
3g.122262343C>GCA435424946CASRc.1308C>G (p.Thr436=)
c.825C>G (p.Thr275=)
c.720C>G (p.Thr240=)
3g.122262343C>TCA435424949CASRc.1308C>T (p.Thr436=)
c.825C>T (p.Thr275=)
c.720C>T (p.Thr240=)
3g.122262344T>ACA354153048CASRc.1309T>A (p.Cys437Ser)
c.826T>A (p.Cys276Ser)
c.721T>A (p.Cys241Ser)
 ClinVar dbSNP
3g.122262344T>CCA354153046CASRc.1309T>C (p.Cys437Arg)
c.826T>C (p.Cys276Arg)
c.721T>C (p.Cys241Arg)
 ClinVar dbSNP
3g.122262344T>GCA354153047CASRc.1309T>G (p.Cys437Gly)
c.826T>G (p.Cys276Gly)
c.721T>G (p.Cys241Gly)
3g.122262344T=CA1397873927CASRc.1309T= (p.Cys437=)
c.826T= (p.Cys276=)
c.721T= (p.Cys241=)

Number of alleles fetched