Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.24127480C=CA1351825226THRBc.1144+19G= (n.1144+19G=)
c.*1773+19G= (n.*1773+19G=)
c.1189+19G= (n.1189+19G=)
c.1051+19G= (n.1051+19G=)
c.973+190G= (n.973+190G=)
3g.24127480C>TCA2287118THRBc.1144+19G>A (n.1144+19G>A)
c.*1773+19G>A (n.*1773+19G>A)
c.1189+19G>A (n.1189+19G>A)
c.1051+19G>A (n.1051+19G>A)
c.973+190G>A (n.973+190G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.24127480_24127481insACAGGTCA71608501THRBc.1144+18_1144+19insACCTGT (n.1144+18_1144+19insACCTGT)
c.*1773+18_*1773+19insACCTGT (n.*1773+18_*1773+19insACCTGT)
c.1189+18_1189+19insACCTGT (n.1189+18_1189+19insACCTGT)
c.1051+18_1051+19insACCTGT (n.1051+18_1051+19insACCTGT)
c.973+189_973+190insACCTGT (n.973+189_973+190insACCTGT)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.24127481G>ACA2287119THRBc.1144+18C>T (n.1144+18C>T)
c.*1773+18C>T (n.*1773+18C>T)
c.1189+18C>T (n.1189+18C>T)
c.1051+18C>T (n.1051+18C>T)
c.973+189C>T (n.973+189C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.24127481G>CCA2664784652THRBc.1144+18C>G (n.1144+18C>G)
c.*1773+18C>G (n.*1773+18C>G)
c.1189+18C>G (n.1189+18C>G)
c.1051+18C>G (n.1051+18C>G)
c.973+189C>G (n.973+189C>G)
 gnomAD v4
3g.24127481G=CA1351825227THRBc.1144+18C= (n.1144+18C=)
c.*1773+18C= (n.*1773+18C=)
c.1189+18C= (n.1189+18C=)
c.1051+18C= (n.1051+18C=)
c.973+189C= (n.973+189C=)
3g.24127483G>ACA542154335THRBc.1144+16C>T (n.1144+16C>T)
c.*1773+16C>T (n.*1773+16C>T)
c.1189+16C>T (n.1189+16C>T)
c.1051+16C>T (n.1051+16C>T)
c.973+187C>T (n.973+187C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.24127483G=CA1351825228THRBc.1144+16C= (n.1144+16C=)
c.*1773+16C= (n.*1773+16C=)
c.1189+16C= (n.1189+16C=)
c.1051+16C= (n.1051+16C=)
c.973+187C= (n.973+187C=)
3g.24127485C>ACA2577530545THRBc.1144+14G>T (n.1144+14G>T)
c.*1773+14G>T (n.*1773+14G>T)
c.1189+14G>T (n.1189+14G>T)
c.1051+14G>T (n.1051+14G>T)
c.973+185G>T (n.973+185G>T)
3g.24127485C>TCA2664784653THRBc.1144+14G>A (n.1144+14G>A)
c.*1773+14G>A (n.*1773+14G>A)
c.1189+14G>A (n.1189+14G>A)
c.1051+14G>A (n.1051+14G>A)
c.973+185G>A (n.973+185G>A)
 gnomAD v4
3g.24127487A=CA1351825229THRBc.1144+12T= (n.1144+12T=)
c.*1773+12T= (n.*1773+12T=)
c.1189+12T= (n.1189+12T=)
c.1051+12T= (n.1051+12T=)
c.973+183T= (n.973+183T=)
3g.24127487A>TCA542154336THRBc.1144+12T>A (n.1144+12T>A)
c.*1773+12T>A (n.*1773+12T>A)
c.1189+12T>A (n.1189+12T>A)
c.1051+12T>A (n.1051+12T>A)
c.973+183T>A (n.973+183T>A)
 dbSNP gnomAD v2 gnomAD v4
3g.24127488G>CCA542154337THRBc.1144+11C>G (n.1144+11C>G)
c.*1773+11C>G (n.*1773+11C>G)
c.1189+11C>G (n.1189+11C>G)
c.1051+11C>G (n.1051+11C>G)
c.973+182C>G (n.973+182C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.24127488G=CA1351825230THRBc.1144+11C= (n.1144+11C=)
c.*1773+11C= (n.*1773+11C=)
c.1189+11C= (n.1189+11C=)
c.1051+11C= (n.1051+11C=)
c.973+182C= (n.973+182C=)
3g.24127488G>TCA2577530546THRBc.1144+11C>A (n.1144+11C>A)
c.*1773+11C>A (n.*1773+11C>A)
c.1189+11C>A (n.1189+11C>A)
c.1051+11C>A (n.1051+11C>A)
c.973+182C>A (n.973+182C>A)
3g.24127490C>ACA2581862614THRBc.1144+9G>T (n.1144+9G>T)
c.*1773+9G>T (n.*1773+9G>T)
c.1189+9G>T (n.1189+9G>T)
c.1051+9G>T (n.1051+9G>T)
c.973+180G>T (n.973+180G>T)
3g.24127490C=CA1351825231THRBc.1144+9G= (n.1144+9G=)
c.*1773+9G= (n.*1773+9G=)
c.1189+9G= (n.1189+9G=)
c.1051+9G= (n.1051+9G=)
c.973+180G= (n.973+180G=)
3g.24127490C>GCA2581862615THRBc.1144+9G>C (n.1144+9G>C)
c.*1773+9G>C (n.*1773+9G>C)
c.1189+9G>C (n.1189+9G>C)
c.1051+9G>C (n.1051+9G>C)
c.973+180G>C (n.973+180G>C)
3g.24127490C>TCA2287120THRBc.1144+9G>A (n.1144+9G>A)
c.*1773+9G>A (n.*1773+9G>A)
c.1189+9G>A (n.1189+9G>A)
c.1051+9G>A (n.1051+9G>A)
c.973+180G>A (n.973+180G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.24127491G>ACA71608502THRBc.1144+8C>T (n.1144+8C>T)
c.*1773+8C>T (n.*1773+8C>T)
c.1189+8C>T (n.1189+8C>T)
c.1051+8C>T (n.1051+8C>T)
c.973+179C>T (n.973+179C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.24127491G=CA1351825232THRBc.1144+8C= (n.1144+8C=)
c.*1773+8C= (n.*1773+8C=)
c.1189+8C= (n.1189+8C=)
c.1051+8C= (n.1051+8C=)
c.973+179C= (n.973+179C=)
3g.24127492T>ACA2702270370THRBc.1144+7A>T (n.1144+7A>T)
c.*1773+7A>T (n.*1773+7A>T)
c.1189+7A>T (n.1189+7A>T)
c.1051+7A>T (n.1051+7A>T)
c.973+178A>T (n.973+178A>T)
 dbSNP
3g.24127492T>CCA542154338THRBc.1144+7A>G (n.1144+7A>G)
c.*1773+7A>G (n.*1773+7A>G)
c.1189+7A>G (n.1189+7A>G)
c.1051+7A>G (n.1051+7A>G)
c.973+178A>G (n.973+178A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.24127492T=CA1351825233THRBc.1144+7A= (n.1144+7A=)
c.*1773+7A= (n.*1773+7A=)
c.1189+7A= (n.1189+7A=)
c.1051+7A= (n.1051+7A=)
c.973+178A= (n.973+178A=)
3g.24127493A>GCA645532231THRBc.1144+6T>C (n.1144+6T>C)
c.*1773+6T>C (n.*1773+6T>C)
c.1189+6T>C (n.1189+6T>C)
c.1051+6T>C (n.1051+6T>C)
c.973+177T>C (n.973+177T>C)
 COSMIC
3g.24127495T>CCA2664784655THRBc.1144+4A>G (n.1144+4A>G)
c.*1773+4A>G (n.*1773+4A>G)
c.1189+4A>G (n.1189+4A>G)
c.1051+4A>G (n.1051+4A>G)
c.973+175A>G (n.973+175A>G)
 gnomAD v4
3g.24127496C=CA1351825235THRBc.1144+3G= (n.1144+3G=)
c.*1773+3G= (n.*1773+3G=)
c.1189+3G= (n.1189+3G=)
c.1051+3G= (n.1051+3G=)
c.973+174G= (n.973+174G=)
3g.24127496C>TCA2287121THRBc.1144+3G>A (n.1144+3G>A)
c.*1773+3G>A (n.*1773+3G>A)
c.1189+3G>A (n.1189+3G>A)
c.1051+3G>A (n.1051+3G>A)
c.973+174G>A (n.973+174G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.24127497A>CCA351888414THRBc.1144+2T>G (n.1144+2T>G)
c.*1773+2T>G (n.*1773+2T>G)
c.1189+2T>G (n.1189+2T>G)
c.1051+2T>G (n.1051+2T>G)
c.973+173T>G (n.973+173T>G)
3g.24127497A>GCA351888416THRBc.1144+2T>C (n.1144+2T>C)
c.*1773+2T>C (n.*1773+2T>C)
c.1189+2T>C (n.1189+2T>C)
c.1051+2T>C (n.1051+2T>C)
c.973+173T>C (n.973+173T>C)
3g.24127497A>TCA351888418THRBc.1144+2T>A (n.1144+2T>A)
c.*1773+2T>A (n.*1773+2T>A)
c.1189+2T>A (n.1189+2T>A)
c.1051+2T>A (n.1051+2T>A)
c.973+173T>A (n.973+173T>A)
3g.24127498C>ACA351888421THRBc.1144+1G>T (n.1144+1G>T)
c.*1773+1G>T (n.*1773+1G>T)
c.1189+1G>T (n.1189+1G>T)
c.1051+1G>T (n.1051+1G>T)
c.973+172G>T (n.973+172G>T)
 ClinVar
3g.24127498C>GCA351888423THRBc.1144+1G>C (n.1144+1G>C)
c.*1773+1G>C (n.*1773+1G>C)
c.1189+1G>C (n.1189+1G>C)
c.1051+1G>C (n.1051+1G>C)
c.973+172G>C (n.973+172G>C)
3g.24127498C>TCA351888424THRBc.1144+1G>A (n.1144+1G>A)
c.*1773+1G>A (n.*1773+1G>A)
c.1189+1G>A (n.1189+1G>A)
c.1051+1G>A (n.1051+1G>A)
c.973+172G>A (n.973+172G>A)
3g.24127499C>ACA351888427THRBc.1144G>T (p.Asp382Tyr)
c.*1773G>T (n.*1773G>T)
c.1189G>T (p.Asp397Tyr)
c.1051G>T (p.Asp351Tyr)
c.973+171G>T (n.973+171G>T)
3g.24127499C=CA1351825236THRBc.1144G= (p.Asp382=)
c.*1773G= (n.*1773G=)
c.1189G= (p.Asp397=)
c.1051G= (p.Asp351=)
c.973+171G= (n.973+171G=)
3g.24127499C>GCA351888429THRBc.1144G>C (p.Asp382His)
c.*1773G>C (n.*1773G>C)
c.1189G>C (p.Asp397His)
c.1051G>C (p.Asp351His)
c.973+171G>C (n.973+171G>C)
3g.24127499C>TCA351888430THRBc.1144G>A (p.Asp382Asn)
c.*1773G>A (n.*1773G>A)
c.1189G>A (p.Asp397Asn)
c.1051G>A (p.Asp351Asn)
c.973+171G>A (n.973+171G>A)
 dbSNP
3g.24127500T>ACA432916177THRBc.1143A>T (p.Ser381=)
c.*1772A>T (n.*1772A>T)
c.1188A>T (p.Ser396=)
c.1050A>T (p.Ser350=)
c.973+170A>T (n.973+170A>T)
3g.24127500T>CCA432916175THRBc.1143A>G (p.Ser381=)
c.*1772A>G (n.*1772A>G)
c.1188A>G (p.Ser396=)
c.1050A>G (p.Ser350=)
c.973+170A>G (n.973+170A>G)
3g.24127500T>GCA432916174THRBc.1143A>C (p.Ser381=)
c.*1772A>C (n.*1772A>C)
c.1188A>C (p.Ser396=)
c.1050A>C (p.Ser350=)
c.973+170A>C (n.973+170A>C)
3g.24127501G>ACA351888434THRBc.1142C>T (p.Ser381Leu)
c.*1771C>T (n.*1771C>T)
c.1187C>T (p.Ser396Leu)
c.1049C>T (p.Ser350Leu)
c.973+169C>T (n.973+169C>T)
3g.24127501G>CCA351888431THRBc.1142C>G (p.Ser381Ter)
c.*1771C>G (n.*1771C>G)
c.1187C>G (p.Ser396Ter)
c.1049C>G (p.Ser350Ter)
c.973+169C>G (n.973+169C>G)
3g.24127501G>TCA351888432THRBc.1142C>A (p.Ser381Ter)
c.*1771C>A (n.*1771C>A)
c.1187C>A (p.Ser396Ter)
c.1049C>A (p.Ser350Ter)
c.973+169C>A (n.973+169C>A)
3g.24127502A>CCA351888436THRBc.1141T>G (p.Ser381Ala)
c.*1770T>G (n.*1770T>G)
c.1186T>G (p.Ser396Ala)
c.1048T>G (p.Ser350Ala)
c.973+168T>G (n.973+168T>G)
 gnomAD v4
3g.24127502A>GCA351888438THRBc.1141T>C (p.Ser381Pro)
c.*1770T>C (n.*1770T>C)
c.1186T>C (p.Ser396Pro)
c.1048T>C (p.Ser350Pro)
c.973+168T>C (n.973+168T>C)
3g.24127502A>TCA351888440THRBc.1141T>A (p.Ser381Thr)
c.*1770T>A (n.*1770T>A)
c.1186T>A (p.Ser396Thr)
c.1048T>A (p.Ser350Thr)
c.973+168T>A (n.973+168T>A)
3g.24127503A>CCA432916181THRBc.1140T>G (p.Ser380=)
c.*1769T>G (n.*1769T>G)
c.1185T>G (p.Ser395=)
c.1047T>G (p.Ser349=)
c.973+167T>G (n.973+167T>G)
3g.24127503A>GCA432916182THRBc.1140T>C (p.Ser380=)
c.*1769T>C (n.*1769T>C)
c.1185T>C (p.Ser395=)
c.1047T>C (p.Ser349=)
c.973+167T>C (n.973+167T>C)
3g.24127503A>TCA432916183THRBc.1140T>A (p.Ser380=)
c.*1769T>A (n.*1769T>A)
c.1185T>A (p.Ser395=)
c.1047T>A (p.Ser349=)
c.973+167T>A (n.973+167T>A)
3g.24127504G>ACA351888442THRBc.1139C>T (p.Ser380Phe)
c.*1768C>T (n.*1768C>T)
c.1184C>T (p.Ser395Phe)
c.1046C>T (p.Ser349Phe)
c.973+166C>T (n.973+166C>T)
3g.24127504G>CCA71608506THRBc.1139C>G (p.Ser380Cys)
c.*1768C>G (n.*1768C>G)
c.1184C>G (p.Ser395Cys)
c.1046C>G (p.Ser349Cys)
c.973+166C>G (n.973+166C>G)
 dbSNP
3g.24127504G=CA1351825237THRBc.1139C= (p.Ser380=)
c.*1768C= (n.*1768C=)
c.1184C= (p.Ser395=)
c.1046C= (p.Ser349=)
c.973+166C= (n.973+166C=)
3g.24127504G>TCA351888443THRBc.1139C>A (p.Ser380Tyr)
c.*1768C>A (n.*1768C>A)
c.1184C>A (p.Ser395Tyr)
c.1046C>A (p.Ser349Tyr)
c.973+166C>A (n.973+166C>A)
3g.24127505A>CCA351888446THRBc.1138T>G (p.Ser380Ala)
c.*1767T>G (n.*1767T>G)
c.1183T>G (p.Ser395Ala)
c.1045T>G (p.Ser349Ala)
c.973+165T>G (n.973+165T>G)
3g.24127505A>GCA351888447THRBc.1138T>C (p.Ser380Pro)
c.*1767T>C (n.*1767T>C)
c.1183T>C (p.Ser395Pro)
c.1045T>C (p.Ser349Pro)
c.973+165T>C (n.973+165T>C)
3g.24127505A>TCA351888449THRBc.1138T>A (p.Ser380Thr)
c.*1767T>A (n.*1767T>A)
c.1183T>A (p.Ser395Thr)
c.1045T>A (p.Ser349Thr)
c.973+165T>A (n.973+165T>A)
3g.24127506C>ACA351888451THRBc.1137G>T (p.Met379Ile)
c.*1766G>T (n.*1766G>T)
c.1182G>T (p.Met394Ile)
c.1044G>T (p.Met348Ile)
c.973+164G>T (n.973+164G>T)
3g.24127506C>GCA351888453THRBc.1137G>C (p.Met379Ile)
c.*1766G>C (n.*1766G>C)
c.1182G>C (p.Met394Ile)
c.1044G>C (p.Met348Ile)
c.973+164G>C (n.973+164G>C)
3g.24127506C>TCA351888455THRBc.1137G>A (p.Met379Ile)
c.*1766G>A (n.*1766G>A)
c.1182G>A (p.Met394Ile)
c.1044G>A (p.Met348Ile)
c.973+164G>A (n.973+164G>A)
3g.24127507A>CCA351888457THRBc.1136T>G (p.Met379Arg)
c.*1765T>G (n.*1765T>G)
c.1181T>G (p.Met394Arg)
c.1043T>G (p.Met348Arg)
c.973+163T>G (n.973+163T>G)
3g.24127507A>GCA351888460THRBc.1136T>C (p.Met379Thr)
c.*1765T>C (n.*1765T>C)
c.1181T>C (p.Met394Thr)
c.1043T>C (p.Met348Thr)
c.973+163T>C (n.973+163T>C)
3g.24127507A>TCA351888459THRBc.1136T>A (p.Met379Lys)
c.*1765T>A (n.*1765T>A)
c.1181T>A (p.Met394Lys)
c.1043T>A (p.Met348Lys)
c.973+163T>A (n.973+163T>A)
3g.24127508T>ACA351888462THRBc.1135A>T (p.Met379Leu)
c.*1764A>T (n.*1764A>T)
c.1180A>T (p.Met394Leu)
c.1042A>T (p.Met348Leu)
c.973+162A>T (n.973+162A>T)
 dbSNP
3g.24127508T>CCA351888464THRBc.1135A>G (p.Met379Val)
c.*1764A>G (n.*1764A>G)
c.1180A>G (p.Met394Val)
c.1042A>G (p.Met348Val)
c.973+162A>G (n.973+162A>G)
3g.24127508T>GCA351888466THRBc.1135A>C (p.Met379Leu)
c.*1764A>C (n.*1764A>C)
c.1180A>C (p.Met394Leu)
c.1042A>C (p.Met348Leu)
c.973+162A>C (n.973+162A>C)
3g.24127508T=CA1351825238THRBc.1135A= (p.Met379=)
c.*1764A= (n.*1764A=)
c.1180A= (p.Met394=)
c.1042A= (p.Met348=)
c.973+162A= (n.973+162A=)
3g.24127509C>ACA432916187THRBc.1134G>T (p.Leu378=)
c.*1763G>T (n.*1763G>T)
c.1179G>T (p.Leu393=)
c.1041G>T (p.Leu347=)
c.973+161G>T (n.973+161G>T)
 gnomAD v4
3g.24127509C>GCA432916188THRBc.1134G>C (p.Leu378=)
c.*1763G>C (n.*1763G>C)
c.1179G>C (p.Leu393=)
c.1041G>C (p.Leu347=)
c.973+161G>C (n.973+161G>C)
3g.24127509C>TCA432916189THRBc.1134G>A (p.Leu378=)
c.*1763G>A (n.*1763G>A)
c.1179G>A (p.Leu393=)
c.1041G>A (p.Leu347=)
c.973+161G>A (n.973+161G>A)
 gnomAD v4
3g.24127510A>CCA351888468THRBc.1133T>G (p.Leu378Arg)
c.*1762T>G (n.*1762T>G)
c.1178T>G (p.Leu393Arg)
c.1040T>G (p.Leu347Arg)
c.973+160T>G (n.973+160T>G)
3g.24127510A>GCA351888470THRBc.1133T>C (p.Leu378Pro)
c.*1762T>C (n.*1762T>C)
c.1178T>C (p.Leu393Pro)
c.1040T>C (p.Leu347Pro)
c.973+160T>C (n.973+160T>C)
3g.24127510A>TCA351888472THRBc.1133T>A (p.Leu378Gln)
c.*1762T>A (n.*1762T>A)
c.1178T>A (p.Leu393Gln)
c.1040T>A (p.Leu347Gln)
c.973+160T>A (n.973+160T>A)
3g.24127511G>ACA432916193THRBc.1132C>T (p.Leu378=)
c.*1761C>T (n.*1761C>T)
c.1177C>T (p.Leu393=)
c.1039C>T (p.Leu347=)
c.973+159C>T (n.973+159C>T)
3g.24127511G>CCA351888473THRBc.1132C>G (p.Leu378Val)
c.*1761C>G (n.*1761C>G)
c.1177C>G (p.Leu393Val)
c.1039C>G (p.Leu347Val)
c.973+159C>G (n.973+159C>G)
3g.24127511G>TCA351888474THRBc.1132C>A (p.Leu378Met)
c.*1761C>A (n.*1761C>A)
c.1177C>A (p.Leu393Met)
c.1039C>A (p.Leu347Met)
c.973+159C>A (n.973+159C>A)
3g.24127512C>ACA432916194THRBc.1131G>T (p.Leu377=)
c.*1760G>T (n.*1760G>T)
c.1176G>T (p.Leu392=)
c.1038G>T (p.Leu346=)
c.973+158G>T (n.973+158G>T)
3g.24127512C>GCA432916195THRBc.1131G>C (p.Leu377=)
c.*1760G>C (n.*1760G>C)
c.1176G>C (p.Leu392=)
c.1038G>C (p.Leu346=)
c.973+158G>C (n.973+158G>C)
3g.24127512C>TCA432916196THRBc.1131G>A (p.Leu377=)
c.*1760G>A (n.*1760G>A)
c.1176G>A (p.Leu392=)
c.1038G>A (p.Leu346=)
c.973+158G>A (n.973+158G>A)
3g.24127513A>CCA351888477THRBc.1130T>G (p.Leu377Arg)
c.*1759T>G (n.*1759T>G)
c.1175T>G (p.Leu392Arg)
c.1037T>G (p.Leu346Arg)
c.973+157T>G (n.973+157T>G)
3g.24127513A>GCA351888480THRBc.1130T>C (p.Leu377Pro)
c.*1759T>C (n.*1759T>C)
c.1175T>C (p.Leu392Pro)
c.1037T>C (p.Leu346Pro)
c.973+157T>C (n.973+157T>C)
3g.24127513A>TCA351888479THRBc.1130T>A (p.Leu377Gln)
c.*1759T>A (n.*1759T>A)
c.1175T>A (p.Leu392Gln)
c.1037T>A (p.Leu346Gln)
c.973+157T>A (n.973+157T>A)
3g.24127514G>ACA432916199THRBc.1129C>T (p.Leu377=)
c.*1758C>T (n.*1758C>T)
c.1174C>T (p.Leu392=)
c.1036C>T (p.Leu346=)
c.973+156C>T (n.973+156C>T)
3g.24127514G>CCA351888482THRBc.1129C>G (p.Leu377Val)
c.*1758C>G (n.*1758C>G)
c.1174C>G (p.Leu392Val)
c.1036C>G (p.Leu346Val)
c.973+156C>G (n.973+156C>G)
3g.24127514G>TCA351888484THRBc.1129C>A (p.Leu377Met)
c.*1758C>A (n.*1758C>A)
c.1174C>A (p.Leu392Met)
c.1036C>A (p.Leu346Met)
c.973+156C>A (n.973+156C>A)
3g.24127515G>ACA432916204THRBc.1128C>T (p.Val376=)
c.*1757C>T (n.*1757C>T)
c.1173C>T (p.Val391=)
c.1035C>T (p.Val345=)
c.973+155C>T (n.973+155C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.24127515G>CCA432916203THRBc.1128C>G (p.Val376=)
c.*1757C>G (n.*1757C>G)
c.1173C>G (p.Val391=)
c.1035C>G (p.Val345=)
c.973+155C>G (n.973+155C>G)
3g.24127515G=CA1351825239THRBc.1128C= (p.Val376=)
c.*1757C= (n.*1757C=)
c.1173C= (p.Val391=)
c.1035C= (p.Val345=)
c.973+155C= (n.973+155C=)
3g.24127515G>TCA432916202THRBc.1128C>A (p.Val376=)
c.*1757C>A (n.*1757C>A)
c.1173C>A (p.Val391=)
c.1035C>A (p.Val345=)
c.973+155C>A (n.973+155C>A)
3g.24127516A>CCA351888486THRBc.1127T>G (p.Val376Gly)
c.*1756T>G (n.*1756T>G)
c.1172T>G (p.Val391Gly)
c.1034T>G (p.Val345Gly)
c.973+154T>G (n.973+154T>G)
3g.24127516A>GCA351888488THRBc.1127T>C (p.Val376Ala)
c.*1756T>C (n.*1756T>C)
c.1172T>C (p.Val391Ala)
c.1034T>C (p.Val345Ala)
c.973+154T>C (n.973+154T>C)
3g.24127516A>TCA351888490THRBc.1127T>A (p.Val376Asp)
c.*1756T>A (n.*1756T>A)
c.1172T>A (p.Val391Asp)
c.1034T>A (p.Val345Asp)
c.973+154T>A (n.973+154T>A)
3g.24127517C>ACA351888492THRBc.1126G>T (p.Val376Phe)
c.*1755G>T (n.*1755G>T)
c.1171G>T (p.Val391Phe)
c.1033G>T (p.Val345Phe)
c.973+153G>T (n.973+153G>T)
3g.24127517C=CA1351825240THRBc.1126G= (p.Val376=)
c.*1755G= (n.*1755G=)
c.1171G= (p.Val391=)
c.1033G= (p.Val345=)
c.973+153G= (n.973+153G=)
3g.24127517C>GCA2287122THRBc.1126G>C (p.Val376Leu)
c.*1755G>C (n.*1755G>C)
c.1171G>C (p.Val391Leu)
c.1033G>C (p.Val345Leu)
c.973+153G>C (n.973+153G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.24127517C>TCA351888494THRBc.1126G>A (p.Val376Ile)
c.*1755G>A (n.*1755G>A)
c.1171G>A (p.Val391Ile)
c.1033G>A (p.Val345Ile)
c.973+153G>A (n.973+153G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.24127518G>ACA2287123THRBc.1125C>T (p.Ala375=)
c.*1754C>T (n.*1754C>T)
c.1170C>T (p.Ala390=)
c.1032C>T (p.Ala344=)
c.973+152C>T (n.973+152C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.24127518G>CCA432916208THRBc.1125C>G (p.Ala375=)
c.*1754C>G (n.*1754C>G)
c.1170C>G (p.Ala390=)
c.1032C>G (p.Ala344=)
c.973+152C>G (n.973+152C>G)
3g.24127518G=CA1351825243THRBc.1125C= (p.Ala375=)
c.*1754C= (n.*1754C=)
c.1170C= (p.Ala390=)
c.1032C= (p.Ala344=)
c.973+152C= (n.973+152C=)
3g.24127518G>TCA432916207THRBc.1125C>A (p.Ala375=)
c.*1754C>A (n.*1754C>A)
c.1170C>A (p.Ala390=)
c.1032C>A (p.Ala344=)
c.973+152C>A (n.973+152C>A)
3g.24127519G>ACA351888497THRBc.1124C>T (p.Ala375Val)
c.*1753C>T (n.*1753C>T)
c.1169C>T (p.Ala390Val)
c.1031C>T (p.Ala344Val)
c.973+151C>T (n.973+151C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.24127519G>CCA351888499THRBc.1124C>G (p.Ala375Gly)
c.*1753C>G (n.*1753C>G)
c.1169C>G (p.Ala390Gly)
c.1031C>G (p.Ala344Gly)
c.973+151C>G (n.973+151C>G)
3g.24127519G=CA1351825248THRBc.1124C= (p.Ala375=)
c.*1753C= (n.*1753C=)
c.1169C= (p.Ala390=)
c.1031C= (p.Ala344=)
c.973+151C= (n.973+151C=)
3g.24127519G>TCA351888501THRBc.1124C>A (p.Ala375Asp)
c.*1753C>A (n.*1753C>A)
c.1169C>A (p.Ala390Asp)
c.1031C>A (p.Ala344Asp)
c.973+151C>A (n.973+151C>A)
3g.24127520C>ACA351888502THRBc.1123G>T (p.Ala375Ser)
c.*1752G>T (n.*1752G>T)
c.1168G>T (p.Ala390Ser)
c.1030G>T (p.Ala344Ser)
c.973+150G>T (n.973+150G>T)
 gnomAD v4
3g.24127520C>GCA351888503THRBc.1123G>C (p.Ala375Pro)
c.*1752G>C (n.*1752G>C)
c.1168G>C (p.Ala390Pro)
c.1030G>C (p.Ala344Pro)
c.973+150G>C (n.973+150G>C)
3g.24127520C>TCA351888505THRBc.1123G>A (p.Ala375Thr)
c.*1752G>A (n.*1752G>A)
c.1168G>A (p.Ala390Thr)
c.1030G>A (p.Ala344Thr)
c.973+150G>A (n.973+150G>A)
3g.24127521C>ACA2287124THRBc.1122G>T (p.Gln374His)
c.*1751G>T (n.*1751G>T)
c.1167G>T (p.Gln389His)
c.1029G>T (p.Gln343His)
c.973+149G>T (n.973+149G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.24127521C=CA1351825252THRBc.1122G= (p.Gln374=)
c.*1751G= (n.*1751G=)
c.1167G= (p.Gln389=)
c.1029G= (p.Gln343=)
c.973+149G= (n.973+149G=)
3g.24127521C>GCA351888508THRBc.1122G>C (p.Gln374His)
c.*1751G>C (n.*1751G>C)
c.1167G>C (p.Gln389His)
c.1029G>C (p.Gln343His)
c.973+149G>C (n.973+149G>C)
3g.24127521C>TCA432916212THRBc.1122G>A (p.Gln374=)
c.*1751G>A (n.*1751G>A)
c.1167G>A (p.Gln389=)
c.1029G>A (p.Gln343=)
c.973+149G>A (n.973+149G>A)
3g.24127522T>ACA351888510THRBc.1121A>T (p.Gln374Leu)
c.*1750A>T (n.*1750A>T)
c.1166A>T (p.Gln389Leu)
c.1028A>T (p.Gln343Leu)
c.973+148A>T (n.973+148A>T)
3g.24127522T>CCA351888512THRBc.1121A>G (p.Gln374Arg)
c.*1750A>G (n.*1750A>G)
c.1166A>G (p.Gln389Arg)
c.1028A>G (p.Gln343Arg)
c.973+148A>G (n.973+148A>G)
3g.24127522T>GCA351888513THRBc.1121A>C (p.Gln374Pro)
c.*1750A>C (n.*1750A>C)
c.1166A>C (p.Gln389Pro)
c.1028A>C (p.Gln343Pro)
c.973+148A>C (n.973+148A>C)
3g.24127523G>ACA351888515THRBc.1120C>T (p.Gln374Ter)
c.*1749C>T (n.*1749C>T)
c.1165C>T (p.Gln389Ter)
c.1027C>T (p.Gln343Ter)
c.973+147C>T (n.973+147C>T)
3g.24127523G>CCA351888519THRBc.1120C>G (p.Gln374Glu)
c.*1749C>G (n.*1749C>G)
c.1165C>G (p.Gln389Glu)
c.1027C>G (p.Gln343Glu)
c.973+147C>G (n.973+147C>G)
3g.24127523G>TCA351888517THRBc.1120C>A (p.Gln374Lys)
c.*1749C>A (n.*1749C>A)
c.1165C>A (p.Gln389Lys)
c.1027C>A (p.Gln343Lys)
c.973+147C>A (n.973+147C>A)
3g.24127524A>CCA432916213THRBc.1119T>G (p.Leu373=)
c.*1748T>G (n.*1748T>G)
c.1164T>G (p.Leu388=)
c.1026T>G (p.Leu342=)
c.973+146T>G (n.973+146T>G)
3g.24127524A>GCA432916214THRBc.1119T>C (p.Leu373=)
c.*1748T>C (n.*1748T>C)
c.1164T>C (p.Leu388=)
c.1026T>C (p.Leu342=)
c.973+146T>C (n.973+146T>C)
3g.24127524A>TCA432916215THRBc.1119T>A (p.Leu373=)
c.*1748T>A (n.*1748T>A)
c.1164T>A (p.Leu388=)
c.1026T>A (p.Leu342=)
c.973+146T>A (n.973+146T>A)
3g.24127525A>CCA351888521THRBc.1118T>G (p.Leu373Arg)
c.*1747T>G (n.*1747T>G)
c.1163T>G (p.Leu388Arg)
c.1025T>G (p.Leu342Arg)
c.973+145T>G (n.973+145T>G)
3g.24127525A>GCA351888522THRBc.1118T>C (p.Leu373Pro)
c.*1747T>C (n.*1747T>C)
c.1163T>C (p.Leu388Pro)
c.1025T>C (p.Leu342Pro)
c.973+145T>C (n.973+145T>C)
3g.24127525A>TCA351888524THRBc.1118T>A (p.Leu373His)
c.*1747T>A (n.*1747T>A)
c.1163T>A (p.Leu388His)
c.1025T>A (p.Leu342His)
c.973+145T>A (n.973+145T>A)
3g.24127526G>ACA351888526THRBc.1117C>T (p.Leu373Phe)
c.*1746C>T (n.*1746C>T)
c.1162C>T (p.Leu388Phe)
c.1024C>T (p.Leu342Phe)
c.973+144C>T (n.973+144C>T)
3g.24127526G>CCA351888528THRBc.1117C>G (p.Leu373Val)
c.*1746C>G (n.*1746C>G)
c.1162C>G (p.Leu388Val)
c.1024C>G (p.Leu342Val)
c.973+144C>G (n.973+144C>G)
3g.24127526G>TCA351888530THRBc.1117C>A (p.Leu373Ile)
c.*1746C>A (n.*1746C>A)
c.1162C>A (p.Leu388Ile)
c.1024C>A (p.Leu342Ile)
c.973+144C>A (n.973+144C>A)
3g.24127527G>ACA432916217THRBc.1116C>T (p.Leu372=)
c.*1745C>T (n.*1745C>T)
c.1161C>T (p.Leu387=)
c.1023C>T (p.Leu341=)
c.973+143C>T (n.973+143C>T)
3g.24127527G>CCA432916218THRBc.1116C>G (p.Leu372=)
c.*1745C>G (n.*1745C>G)
c.1161C>G (p.Leu387=)
c.1023C>G (p.Leu341=)
c.973+143C>G (n.973+143C>G)
3g.24127527G>TCA432916219THRBc.1116C>A (p.Leu372=)
c.*1745C>A (n.*1745C>A)
c.1161C>A (p.Leu387=)
c.1023C>A (p.Leu341=)
c.973+143C>A (n.973+143C>A)
3g.24127528A>CCA351888532THRBc.1115T>G (p.Leu372Arg)
c.*1744T>G (n.*1744T>G)
c.1160T>G (p.Leu387Arg)
c.1022T>G (p.Leu341Arg)
c.973+142T>G (n.973+142T>G)
3g.24127528A>GCA351888533THRBc.1115T>C (p.Leu372Pro)
c.*1744T>C (n.*1744T>C)
c.1160T>C (p.Leu387Pro)
c.1022T>C (p.Leu341Pro)
c.973+142T>C (n.973+142T>C)
3g.24127528A>TCA351888535THRBc.1115T>A (p.Leu372His)
c.*1744T>A (n.*1744T>A)
c.1160T>A (p.Leu387His)
c.1022T>A (p.Leu341His)
c.973+142T>A (n.973+142T>A)
3g.24127529G>ACA351888538THRBc.1114C>T (p.Leu372Phe)
c.*1743C>T (n.*1743C>T)
c.1159C>T (p.Leu387Phe)
c.1021C>T (p.Leu341Phe)
c.973+141C>T (n.973+141C>T)
3g.24127529G>CCA351888539THRBc.1114C>G (p.Leu372Val)
c.*1743C>G (n.*1743C>G)
c.1159C>G (p.Leu387Val)
c.1021C>G (p.Leu341Val)
c.973+141C>G (n.973+141C>G)
3g.24127529G>TCA351888540THRBc.1114C>A (p.Leu372Ile)
c.*1743C>A (n.*1743C>A)
c.1159C>A (p.Leu387Ile)
c.1021C>A (p.Leu341Ile)
c.973+141C>A (n.973+141C>A)
3g.24127530G>ACA432916223THRBc.1113C>T (p.Ala371=)
c.*1742C>T (n.*1742C>T)
c.1158C>T (p.Ala386=)
c.1020C>T (p.Ala340=)
c.973+140C>T (n.973+140C>T)
3g.24127530G>CCA432916224THRBc.1113C>G (p.Ala371=)
c.*1742C>G (n.*1742C>G)
c.1158C>G (p.Ala386=)
c.1020C>G (p.Ala340=)
c.973+140C>G (n.973+140C>G)
3g.24127530G>TCA432916225THRBc.1113C>A (p.Ala371=)
c.*1742C>A (n.*1742C>A)
c.1158C>A (p.Ala386=)
c.1020C>A (p.Ala340=)
c.973+140C>A (n.973+140C>A)
3g.24127531G>ACA351888543THRBc.1112C>T (p.Ala371Val)
c.*1741C>T (n.*1741C>T)
c.1157C>T (p.Ala386Val)
c.1019C>T (p.Ala340Val)
c.973+139C>T (n.973+139C>T)
3g.24127531G>CCA351888542THRBc.1112C>G (p.Ala371Gly)
c.*1741C>G (n.*1741C>G)
c.1157C>G (p.Ala386Gly)
c.1019C>G (p.Ala340Gly)
c.973+139C>G (n.973+139C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.24127531G=CA1351825254THRBc.1112C= (p.Ala371=)
c.*1741C= (n.*1741C=)
c.1157C= (p.Ala386=)
c.1019C= (p.Ala340=)
c.973+139C= (n.973+139C=)
3g.24127531G>TCA351888541THRBc.1112C>A (p.Ala371Asp)
c.*1741C>A (n.*1741C>A)
c.1157C>A (p.Ala386Asp)
c.1019C>A (p.Ala340Asp)
c.973+139C>A (n.973+139C>A)
3g.24127532C>ACA351888544THRBc.1111G>T (p.Ala371Ser)
c.*1740G>T (n.*1740G>T)
c.1156G>T (p.Ala386Ser)
c.1018G>T (p.Ala340Ser)
c.973+138G>T (n.973+138G>T)
3g.24127532C>GCA351888545THRBc.1111G>C (p.Ala371Pro)
c.*1740G>C (n.*1740G>C)
c.1156G>C (p.Ala386Pro)
c.1018G>C (p.Ala340Pro)
c.973+138G>C (n.973+138G>C)
3g.24127532C>TCA351888546THRBc.1111G>A (p.Ala371Thr)
c.*1740G>A (n.*1740G>A)
c.1156G>A (p.Ala386Thr)
c.1018G>A (p.Ala340Thr)
c.973+138G>A (n.973+138G>A)
3g.24127533T>ACA432916227THRBc.1110A>T (p.Val370=)
c.*1739A>T (n.*1739A>T)
c.1155A>T (p.Val385=)
c.1017A>T (p.Val339=)
c.973+137A>T (n.973+137A>T)
3g.24127533T>CCA432916228THRBc.1110A>G (p.Val370=)
c.*1739A>G (n.*1739A>G)
c.1155A>G (p.Val385=)
c.1017A>G (p.Val339=)
c.973+137A>G (n.973+137A>G)
3g.24127533T>GCA432916229THRBc.1110A>C (p.Val370=)
c.*1739A>C (n.*1739A>C)
c.1155A>C (p.Val385=)
c.1017A>C (p.Val339=)
c.973+137A>C (n.973+137A>C)
3g.24127534A>CCA351888547THRBc.1109T>G (p.Val370Gly)
c.*1738T>G (n.*1738T>G)
c.1154T>G (p.Val385Gly)
c.1016T>G (p.Val339Gly)
c.973+136T>G (n.973+136T>G)
3g.24127534A>GCA351888548THRBc.1109T>C (p.Val370Ala)
c.*1738T>C (n.*1738T>C)
c.1154T>C (p.Val385Ala)
c.1016T>C (p.Val339Ala)
c.973+136T>C (n.973+136T>C)
3g.24127534A>TCA351888549THRBc.1109T>A (p.Val370Glu)
c.*1738T>A (n.*1738T>A)
c.1154T>A (p.Val385Glu)
c.1016T>A (p.Val339Glu)
c.973+136T>A (n.973+136T>A)
3g.24127535C>ACA351888550THRBc.1108G>T (p.Val370Leu)
c.*1737G>T (n.*1737G>T)
c.1153G>T (p.Val385Leu)
c.1015G>T (p.Val339Leu)
c.973+135G>T (n.973+135G>T)
3g.24127535C=CA1351825257THRBc.1108G= (p.Val370=)
c.*1737G= (n.*1737G=)
c.1153G= (p.Val385=)
c.1015G= (p.Val339=)
c.973+135G= (n.973+135G=)
3g.24127535C>GCA351888551THRBc.1108G>C (p.Val370Leu)
c.*1737G>C (n.*1737G>C)
c.1153G>C (p.Val385Leu)
c.1015G>C (p.Val339Leu)
c.973+135G>C (n.973+135G>C)
3g.24127535C>TCA351888552THRBc.1108G>A (p.Val370Ile)
c.*1737G>A (n.*1737G>A)
c.1153G>A (p.Val385Ile)
c.1015G>A (p.Val339Ile)
c.973+135G>A (n.973+135G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.24127536T>ACA351888553THRBc.1107A>T (p.Glu369Asp)
c.*1736A>T (n.*1736A>T)
c.1152A>T (p.Glu384Asp)
c.1014A>T (p.Glu338Asp)
c.973+134A>T (n.973+134A>T)
3g.24127536T>CCA2287125THRBc.1107A>G (p.Glu369=)
c.*1736A>G (n.*1736A>G)
c.1152A>G (p.Glu384=)
c.1014A>G (p.Glu338=)
c.973+134A>G (n.973+134A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.24127536T>GCA351888554THRBc.1107A>C (p.Glu369Asp)
c.*1736A>C (n.*1736A>C)
c.1152A>C (p.Glu384Asp)
c.1014A>C (p.Glu338Asp)
c.973+134A>C (n.973+134A>C)
3g.24127536T=CA1351825259THRBc.1107A= (p.Glu369=)
c.*1736A= (n.*1736A=)
c.1152A= (p.Glu384=)
c.1014A= (p.Glu338=)
c.973+134A= (n.973+134A=)
3g.24127537T>ACA351888555THRBc.1106A>T (p.Glu369Val)
c.*1735A>T (n.*1735A>T)
c.1151A>T (p.Glu384Val)
c.1013A>T (p.Glu338Val)
c.973+133A>T (n.973+133A>T)
3g.24127537T>CCA351888557THRBc.1106A>G (p.Glu369Gly)
c.*1735A>G (n.*1735A>G)
c.1151A>G (p.Glu384Gly)
c.1013A>G (p.Glu338Gly)
c.973+133A>G (n.973+133A>G)
3g.24127537T>GCA351888556THRBc.1106A>C (p.Glu369Ala)
c.*1735A>C (n.*1735A>C)
c.1151A>C (p.Glu384Ala)
c.1013A>C (p.Glu338Ala)
c.973+133A>C (n.973+133A>C)
3g.24127538C>ACA351888558THRBc.1105G>T (p.Glu369Ter)
c.*1734G>T (n.*1734G>T)
c.1150G>T (p.Glu384Ter)
c.1012G>T (p.Glu338Ter)
c.973+132G>T (n.973+132G>T)
3g.24127538C>GCA351888560THRBc.1105G>C (p.Glu369Gln)
c.*1734G>C (n.*1734G>C)
c.1150G>C (p.Glu384Gln)
c.1012G>C (p.Glu338Gln)
c.973+132G>C (n.973+132G>C)
3g.24127538C>TCA351888559THRBc.1105G>A (p.Glu369Lys)
c.*1734G>A (n.*1734G>A)
c.1150G>A (p.Glu384Lys)
c.1012G>A (p.Glu338Lys)
c.973+132G>A (n.973+132G>A)
3g.24127539A=CA1351825262THRBc.1104T= (p.Thr368=)
c.*1733T= (n.*1733T=)
c.1149T= (p.Thr383=)
c.1011T= (p.Thr337=)
c.973+131T= (n.973+131T=)
3g.24127539A>CCA432916235THRBc.1104T>G (p.Thr368=)
c.*1733T>G (n.*1733T>G)
c.1149T>G (p.Thr383=)
c.1011T>G (p.Thr337=)
c.973+131T>G (n.973+131T>G)
3g.24127539A>GCA432916236THRBc.1104T>C (p.Thr368=)
c.*1733T>C (n.*1733T>C)
c.1149T>C (p.Thr383=)
c.1011T>C (p.Thr337=)
c.973+131T>C (n.973+131T>C)
 dbSNP gnomAD v4
3g.24127539A>TCA2287126THRBc.1104T>A (p.Thr368=)
c.*1733T>A (n.*1733T>A)
c.1149T>A (p.Thr383=)
c.1011T>A (p.Thr337=)
c.973+131T>A (n.973+131T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.24127540G>ACA2287127THRBc.1103C>T (p.Thr368Ile)
c.*1732C>T (n.*1732C>T)
c.1148C>T (p.Thr383Ile)
c.1010C>T (p.Thr337Ile)
c.973+130C>T (n.973+130C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.24127540G>CCA351888561THRBc.1103C>G (p.Thr368Ser)
c.*1732C>G (n.*1732C>G)
c.1148C>G (p.Thr383Ser)
c.1010C>G (p.Thr337Ser)
c.973+130C>G (n.973+130C>G)
3g.24127540G=CA1351825264THRBc.1103C= (p.Thr368=)
c.*1732C= (n.*1732C=)
c.1148C= (p.Thr383=)
c.1010C= (p.Thr337=)
c.973+130C= (n.973+130C=)
3g.24127540G>TCA351888562THRBc.1103C>A (p.Thr368Asn)
c.*1732C>A (n.*1732C>A)
c.1148C>A (p.Thr383Asn)
c.1010C>A (p.Thr337Asn)
c.973+130C>A (n.973+130C>A)
3g.24127541T>ACA351888563THRBc.1102A>T (p.Thr368Ser)
c.*1731A>T (n.*1731A>T)
c.1147A>T (p.Thr383Ser)
c.1009A>T (p.Thr337Ser)
c.973+129A>T (n.973+129A>T)
3g.24127541T>CCA351888564THRBc.1102A>G (p.Thr368Ala)
c.*1731A>G (n.*1731A>G)
c.1147A>G (p.Thr383Ala)
c.1009A>G (p.Thr337Ala)
c.973+129A>G (n.973+129A>G)
3g.24127541T>GCA351888565THRBc.1102A>C (p.Thr368Pro)
c.*1731A>C (n.*1731A>C)
c.1147A>C (p.Thr383Pro)
c.1009A>C (p.Thr337Pro)
c.973+129A>C (n.973+129A>C)
3g.24127542G>ACA432916239THRBc.1101C>T (p.Asp367=)
c.*1730C>T (n.*1730C>T)
c.1146C>T (p.Asp382=)
c.1008C>T (p.Asp336=)
c.973+128C>T (n.973+128C>T)
3g.24127542G>CCA351888566THRBc.1101C>G (p.Asp367Glu)
c.*1730C>G (n.*1730C>G)
c.1146C>G (p.Asp382Glu)
c.1008C>G (p.Asp336Glu)
c.973+128C>G (n.973+128C>G)
3g.24127542G>TCA351888567THRBc.1101C>A (p.Asp367Glu)
c.*1730C>A (n.*1730C>A)
c.1146C>A (p.Asp382Glu)
c.1008C>A (p.Asp336Glu)
c.973+128C>A (n.973+128C>A)
3g.24127543T>ACA351888568THRBc.1100A>T (p.Asp367Val)
c.*1729A>T (n.*1729A>T)
c.1145A>T (p.Asp382Val)
c.1007A>T (p.Asp336Val)
c.973+127A>T (n.973+127A>T)
3g.24127543T>CCA351888569THRBc.1100A>G (p.Asp367Gly)
c.*1729A>G (n.*1729A>G)
c.1145A>G (p.Asp382Gly)
c.1007A>G (p.Asp336Gly)
c.973+127A>G (n.973+127A>G)
3g.24127543T>GCA351888570THRBc.1100A>C (p.Asp367Ala)
c.*1729A>C (n.*1729A>C)
c.1145A>C (p.Asp382Ala)
c.1007A>C (p.Asp336Ala)
c.973+127A>C (n.973+127A>C)
3g.24127544C>ACA351888573THRBc.1099G>T (p.Asp367Tyr)
c.*1728G>T (n.*1728G>T)
c.1144G>T (p.Asp382Tyr)
c.1006G>T (p.Asp336Tyr)
c.973+126G>T (n.973+126G>T)
3g.24127544C>GCA351888571THRBc.1099G>C (p.Asp367His)
c.*1728G>C (n.*1728G>C)
c.1144G>C (p.Asp382His)
c.1006G>C (p.Asp336His)
c.973+126G>C (n.973+126G>C)
3g.24127544C>TCA351888572THRBc.1099G>A (p.Asp367Asn)
c.*1728G>A (n.*1728G>A)
c.1144G>A (p.Asp382Asn)
c.1006G>A (p.Asp336Asn)
c.973+126G>A (n.973+126G>A)
 COSMIC
3g.24127545A=CA1351825267THRBc.1098T= (p.Asp366=)
c.*1727T= (n.*1727T=)
c.1143T= (p.Asp381=)
c.1005T= (p.Asp335=)
c.973+125T= (n.973+125T=)
3g.24127545A>CCA351888574THRBc.1098T>G (p.Asp366Glu)
c.*1727T>G (n.*1727T>G)
c.1143T>G (p.Asp381Glu)
c.1005T>G (p.Asp335Glu)
c.973+125T>G (n.973+125T>G)
3g.24127545A>GCA432916244THRBc.1098T>C (p.Asp366=)
c.*1727T>C (n.*1727T>C)
c.1143T>C (p.Asp381=)
c.1005T>C (p.Asp335=)
c.973+125T>C (n.973+125T>C)
 dbSNP
3g.24127545A>TCA351888575THRBc.1098T>A (p.Asp366Glu)
c.*1727T>A (n.*1727T>A)
c.1143T>A (p.Asp381Glu)
c.1005T>A (p.Asp335Glu)
c.973+125T>A (n.973+125T>A)
3g.24127546T>ACA351888576THRBc.1097A>T (p.Asp366Val)
c.*1726A>T (n.*1726A>T)
c.1142A>T (p.Asp381Val)
c.1004A>T (p.Asp335Val)
c.973+124A>T (n.973+124A>T)
3g.24127546T>CCA351888577THRBc.1097A>G (p.Asp366Gly)
c.*1726A>G (n.*1726A>G)
c.1142A>G (p.Asp381Gly)
c.1004A>G (p.Asp335Gly)
c.973+124A>G (n.973+124A>G)
3g.24127546T>GCA351888578THRBc.1097A>C (p.Asp366Ala)
c.*1726A>C (n.*1726A>C)
c.1142A>C (p.Asp381Ala)
c.1004A>C (p.Asp335Ala)
c.973+124A>C (n.973+124A>C)
3g.24127547C>ACA351888579THRBc.1096G>T (p.Asp366Tyr)
c.*1725G>T (n.*1725G>T)
c.1141G>T (p.Asp381Tyr)
c.1003G>T (p.Asp335Tyr)
c.973+123G>T (n.973+123G>T)
3g.24127547C>GCA351888580THRBc.1096G>C (p.Asp366His)
c.*1725G>C (n.*1725G>C)
c.1141G>C (p.Asp381His)
c.1003G>C (p.Asp335His)
c.973+123G>C (n.973+123G>C)
3g.24127547C>TCA351888581THRBc.1096G>A (p.Asp366Asn)
c.*1725G>A (n.*1725G>A)
c.1141G>A (p.Asp381Asn)
c.1003G>A (p.Asp335Asn)
c.973+123G>A (n.973+123G>A)
3g.24127548C>ACA432916246THRBc.1095G>T (p.Leu365=)
c.*1724G>T (n.*1724G>T)
c.1140G>T (p.Leu380=)
c.1002G>T (p.Leu334=)
c.973+122G>T (n.973+122G>T)
3g.24127548C>GCA432916247THRBc.1095G>C (p.Leu365=)
c.*1724G>C (n.*1724G>C)
c.1140G>C (p.Leu380=)
c.1002G>C (p.Leu334=)
c.973+122G>C (n.973+122G>C)
3g.24127548C>TCA432916248THRBc.1095G>A (p.Leu365=)
c.*1724G>A (n.*1724G>A)
c.1140G>A (p.Leu380=)
c.1002G>A (p.Leu334=)
c.973+122G>A (n.973+122G>A)
3g.24127549A>CCA351888582THRBc.1094T>G (p.Leu365Arg)
c.*1723T>G (n.*1723T>G)
c.1139T>G (p.Leu380Arg)
c.1001T>G (p.Leu334Arg)
c.973+121T>G (n.973+121T>G)
3g.24127549A>GCA351888583THRBc.1094T>C (p.Leu365Pro)
c.*1723T>C (n.*1723T>C)
c.1139T>C (p.Leu380Pro)
c.1001T>C (p.Leu334Pro)
c.973+121T>C (n.973+121T>C)
3g.24127549A>TCA351888584THRBc.1094T>A (p.Leu365Gln)
c.*1723T>A (n.*1723T>A)
c.1139T>A (p.Leu380Gln)
c.1001T>A (p.Leu334Gln)
c.973+121T>A (n.973+121T>A)
3g.24127550G>ACA432916249THRBc.1093C>T (p.Leu365=)
c.*1722C>T (n.*1722C>T)
c.1138C>T (p.Leu380=)
c.1000C>T (p.Leu334=)
c.973+120C>T (n.973+120C>T)
3g.24127550G>CCA2287128THRBc.1093C>G (p.Leu365Val)
c.*1722C>G (n.*1722C>G)
c.1138C>G (p.Leu380Val)
c.1000C>G (p.Leu334Val)
c.973+120C>G (n.973+120C>G)
 dbSNP ExAC gnomAD v2
3g.24127550G=CA1351825270THRBc.1093C= (p.Leu365=)
c.*1722C= (n.*1722C=)
c.1138C= (p.Leu380=)
c.1000C= (p.Leu334=)
c.973+120C= (n.973+120C=)
3g.24127550G>TCA351888585THRBc.1093C>A (p.Leu365Met)
c.*1722C>A (n.*1722C>A)
c.1138C>A (p.Leu380Met)
c.1000C>A (p.Leu334Met)
c.973+120C>A (n.973+120C>A)
3g.24127551G>ACA432916251THRBc.1092C>T (p.Asn364=)
c.*1721C>T (n.*1721C>T)
c.1137C>T (p.Asn379=)
c.999C>T (p.Asn333=)
c.973+119C>T (n.973+119C>T)
3g.24127551G>CCA351888586THRBc.1092C>G (p.Asn364Lys)
c.*1721C>G (n.*1721C>G)
c.1137C>G (p.Asn379Lys)
c.999C>G (p.Asn333Lys)
c.973+119C>G (n.973+119C>G)
3g.24127551G>TCA351888587THRBc.1092C>A (p.Asn364Lys)
c.*1721C>A (n.*1721C>A)
c.1137C>A (p.Asn379Lys)
c.999C>A (p.Asn333Lys)
c.973+119C>A (n.973+119C>A)
3g.24127552T>ACA351888588THRBc.1091A>T (p.Asn364Ile)
c.*1720A>T (n.*1720A>T)
c.1136A>T (p.Asn379Ile)
c.998A>T (p.Asn333Ile)
c.973+118A>T (n.973+118A>T)
3g.24127552T>CCA351888589THRBc.1091A>G (p.Asn364Ser)
c.*1720A>G (n.*1720A>G)
c.1136A>G (p.Asn379Ser)
c.998A>G (p.Asn333Ser)
c.973+118A>G (n.973+118A>G)
3g.24127552T>GCA351888590THRBc.1091A>C (p.Asn364Thr)
c.*1720A>C (n.*1720A>C)
c.1136A>C (p.Asn379Thr)
c.998A>C (p.Asn333Thr)
c.973+118A>C (n.973+118A>C)
3g.24127553T>ACA351888591THRBc.1090A>T (p.Asn364Tyr)
c.*1719A>T (n.*1719A>T)
c.1135A>T (p.Asn379Tyr)
c.997A>T (p.Asn333Tyr)
c.973+117A>T (n.973+117A>T)
3g.24127553T>CCA351888592THRBc.1090A>G (p.Asn364Asp)
c.*1719A>G (n.*1719A>G)
c.1135A>G (p.Asn379Asp)
c.997A>G (p.Asn333Asp)
c.973+117A>G (n.973+117A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.24127553T>GCA351888593THRBc.1090A>C (p.Asn364His)
c.*1719A>C (n.*1719A>C)
c.1135A>C (p.Asn379His)
c.997A>C (p.Asn333His)
c.973+117A>C (n.973+117A>C)
3g.24127553T=CA1351825274THRBc.1090A= (p.Asn364=)
c.*1719A= (n.*1719A=)
c.1135A= (p.Asn379=)
c.997A= (p.Asn333=)
c.973+117A= (n.973+117A=)
3g.24127554G>ACA432916253THRBc.1089C>T (p.Phe363=)
c.*1718C>T (n.*1718C>T)
c.1134C>T (p.Phe378=)
c.996C>T (p.Phe332=)
c.973+116C>T (n.973+116C>T)
3g.24127554G>CCA351888594THRBc.1089C>G (p.Phe363Leu)
c.*1718C>G (n.*1718C>G)
c.1134C>G (p.Phe378Leu)
c.996C>G (p.Phe332Leu)
c.973+116C>G (n.973+116C>G)
3g.24127554G>TCA351888595THRBc.1089C>A (p.Phe363Leu)
c.*1718C>A (n.*1718C>A)
c.1134C>A (p.Phe378Leu)
c.996C>A (p.Phe332Leu)
c.973+116C>A (n.973+116C>A)
3g.24127555A>CCA351888596THRBc.1088T>G (p.Phe363Cys)
c.*1717T>G (n.*1717T>G)
c.1133T>G (p.Phe378Cys)
c.995T>G (p.Phe332Cys)
c.973+115T>G (n.973+115T>G)
3g.24127555A>GCA351888597THRBc.1088T>C (p.Phe363Ser)
c.*1717T>C (n.*1717T>C)
c.1133T>C (p.Phe378Ser)
c.995T>C (p.Phe332Ser)
c.973+115T>C (n.973+115T>C)
3g.24127555A>TCA351888598THRBc.1088T>A (p.Phe363Tyr)
c.*1717T>A (n.*1717T>A)
c.1133T>A (p.Phe378Tyr)
c.995T>A (p.Phe332Tyr)
c.973+115T>A (n.973+115T>A)
3g.24127556A>CCA351888601THRBc.1087T>G (p.Phe363Val)
c.*1716T>G (n.*1716T>G)
c.1132T>G (p.Phe378Val)
c.994T>G (p.Phe332Val)
c.973+114T>G (n.973+114T>G)
3g.24127556A>GCA351888599THRBc.1087T>C (p.Phe363Leu)
c.*1716T>C (n.*1716T>C)
c.1132T>C (p.Phe378Leu)
c.994T>C (p.Phe332Leu)
c.973+114T>C (n.973+114T>C)
3g.24127556A>TCA351888600THRBc.1087T>A (p.Phe363Ile)
c.*1716T>A (n.*1716T>A)
c.1132T>A (p.Phe378Ile)
c.994T>A (p.Phe332Ile)
c.973+114T>A (n.973+114T>A)
3g.24127557A>CCA432916256THRBc.1086T>G (p.Ser362=)
c.*1715T>G (n.*1715T>G)
c.1131T>G (p.Ser377=)
c.993T>G (p.Ser331=)
c.973+113T>G (n.973+113T>G)
3g.24127557A>GCA432916257THRBc.1086T>C (p.Ser362=)
c.*1715T>C (n.*1715T>C)
c.1131T>C (p.Ser377=)
c.993T>C (p.Ser331=)
c.973+113T>C (n.973+113T>C)
 gnomAD v4
3g.24127557A>TCA432916258THRBc.1086T>A (p.Ser362=)
c.*1715T>A (n.*1715T>A)
c.1131T>A (p.Ser377=)
c.993T>A (p.Ser331=)
c.973+113T>A (n.973+113T>A)
3g.24127558G>ACA351888602THRBc.1085C>T (p.Ser362Phe)
c.*1714C>T (n.*1714C>T)
c.1130C>T (p.Ser377Phe)
c.992C>T (p.Ser331Phe)
c.973+112C>T (n.973+112C>T)
3g.24127558G>CCA351888603THRBc.1085C>G (p.Ser362Cys)
c.*1714C>G (n.*1714C>G)
c.1130C>G (p.Ser377Cys)
c.992C>G (p.Ser331Cys)
c.973+112C>G (n.973+112C>G)
3g.24127558G>TCA351888604THRBc.1085C>A (p.Ser362Tyr)
c.*1714C>A (n.*1714C>A)
c.1130C>A (p.Ser377Tyr)
c.992C>A (p.Ser331Tyr)
c.973+112C>A (n.973+112C>A)
 COSMIC
3g.24127559A>CCA351888605THRBc.1084T>G (p.Ser362Ala)
c.*1713T>G (n.*1713T>G)
c.1129T>G (p.Ser377Ala)
c.991T>G (p.Ser331Ala)
c.973+111T>G (n.973+111T>G)
3g.24127559A>GCA351888606THRBc.1084T>C (p.Ser362Pro)
c.*1713T>C (n.*1713T>C)
c.1129T>C (p.Ser377Pro)
c.991T>C (p.Ser331Pro)
c.973+111T>C (n.973+111T>C)
3g.24127559A>TCA351888607THRBc.1084T>A (p.Ser362Thr)
c.*1713T>A (n.*1713T>A)
c.1129T>A (p.Ser377Thr)
c.991T>A (p.Ser331Thr)
c.973+111T>A (n.973+111T>A)
3g.24127560A>CCA432916260THRBc.1083T>G (p.Ser361=)
c.*1712T>G (n.*1712T>G)
c.1128T>G (p.Ser376=)
c.990T>G (p.Ser330=)
c.973+110T>G (n.973+110T>G)
3g.24127560A>GCA432916261THRBc.1083T>C (p.Ser361=)
c.*1712T>C (n.*1712T>C)
c.1128T>C (p.Ser376=)
c.990T>C (p.Ser330=)
c.973+110T>C (n.973+110T>C)
3g.24127560A>TCA432916262THRBc.1083T>A (p.Ser361=)
c.*1712T>A (n.*1712T>A)
c.1128T>A (p.Ser376=)
c.990T>A (p.Ser330=)
c.973+110T>A (n.973+110T>A)
3g.24127561G>ACA351888608THRBc.1082C>T (p.Ser361Phe)
c.*1711C>T (n.*1711C>T)
c.1127C>T (p.Ser376Phe)
c.989C>T (p.Ser330Phe)
c.973+109C>T (n.973+109C>T)
3g.24127561G>CCA351888609THRBc.1082C>G (p.Ser361Cys)
c.*1711C>G (n.*1711C>G)
c.1127C>G (p.Ser376Cys)
c.989C>G (p.Ser330Cys)
c.973+109C>G (n.973+109C>G)
 gnomAD v4
3g.24127561G>TCA351888610THRBc.1082C>A (p.Ser361Tyr)
c.*1711C>A (n.*1711C>A)
c.1127C>A (p.Ser376Tyr)
c.989C>A (p.Ser330Tyr)
c.973+109C>A (n.973+109C>A)
3g.24127562A>CCA351888611THRBc.1081T>G (p.Ser361Ala)
c.*1710T>G (n.*1710T>G)
c.1126T>G (p.Ser376Ala)
c.988T>G (p.Ser330Ala)
c.973+108T>G (n.973+108T>G)
3g.24127562A>GCA351888612THRBc.1081T>C (p.Ser361Pro)
c.*1710T>C (n.*1710T>C)
c.1126T>C (p.Ser376Pro)
c.988T>C (p.Ser330Pro)
c.973+108T>C (n.973+108T>C)
3g.24127562A>TCA351888613THRBc.1081T>A (p.Ser361Thr)
c.*1710T>A (n.*1710T>A)
c.1126T>A (p.Ser376Thr)
c.988T>A (p.Ser330Thr)
c.973+108T>A (n.973+108T>A)
3g.24127563C>ACA432916263THRBc.1080G>T (p.Leu360=)
c.*1709G>T (n.*1709G>T)
c.1125G>T (p.Leu375=)
c.987G>T (p.Leu329=)
c.973+107G>T (n.973+107G>T)
 dbSNP
3g.24127563C=CA1351825275THRBc.1080G= (p.Leu360=)
c.*1709G= (n.*1709G=)
c.1125G= (p.Leu375=)
c.987G= (p.Leu329=)
c.973+107G= (n.973+107G=)
3g.24127563C>GCA432916264THRBc.1080G>C (p.Leu360=)
c.*1709G>C (n.*1709G>C)
c.1125G>C (p.Leu375=)
c.987G>C (p.Leu329=)
c.973+107G>C (n.973+107G>C)
 gnomAD v4
3g.24127563C>TCA2287129THRBc.1080G>A (p.Leu360=)
c.*1709G>A (n.*1709G>A)
c.1125G>A (p.Leu375=)
c.987G>A (p.Leu329=)
c.973+107G>A (n.973+107G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.24127563_24127565delinsCAGCA1351825276THRBc.1078_1080delinsCTG (p.Leu360=)
c.*1707_*1709delinsCTG (n.*1707_*1709delinsCTG)
c.1123_1125delinsCTG (p.Leu375=)
c.985_987delinsCTG (p.Leu329=)
c.973+105_973+107delinsCTG (n.973+105_973+107delinsCTG)
3g.24127564A>CCA351888615THRBc.1079T>G (p.Leu360Arg)
c.*1708T>G (n.*1708T>G)
c.1124T>G (p.Leu375Arg)
c.986T>G (p.Leu329Arg)
c.973+106T>G (n.973+106T>G)
3g.24127564A>GCA351888614THRBc.1079T>C (p.Leu360Pro)
c.*1708T>C (n.*1708T>C)
c.1124T>C (p.Leu375Pro)
c.986T>C (p.Leu329Pro)
c.973+106T>C (n.973+106T>C)
3g.24127564A>TCA351888616THRBc.1079T>A (p.Leu360Gln)
c.*1708T>A (n.*1708T>A)
c.1124T>A (p.Leu375Gln)
c.986T>A (p.Leu329Gln)
c.973+106T>A (n.973+106T>A)
3g.24127567_24127568delCA1351825280THRBc.1078_1079del (p.Leu360ValfsTer7)
c.*1707_*1708del (n.*1707_*1708del)
c.1123_1124del (p.Leu375ValfsTer7)
c.985_986del (p.Leu329ValfsTer7)
c.973+105_973+106del (n.973+105_973+106del)
 dbSNP
3g.24127565G>ACA2287130THRBc.1078C>T (p.Leu360=)
c.*1707C>T (n.*1707C>T)
c.1123C>T (p.Leu375=)
c.985C>T (p.Leu329=)
c.973+105C>T (n.973+105C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.24127565G>CCA351888618THRBc.1078C>G (p.Leu360Val)
c.*1707C>G (n.*1707C>G)
c.1123C>G (p.Leu375Val)
c.985C>G (p.Leu329Val)
c.973+105C>G (n.973+105C>G)
3g.24127565G=CA1351825281THRBc.1078C= (p.Leu360=)
c.*1707C= (n.*1707C=)
c.1123C= (p.Leu375=)
c.985C= (p.Leu329=)
c.973+105C= (n.973+105C=)
3g.24127565G>TCA351888617THRBc.1078C>A (p.Leu360Met)
c.*1707C>A (n.*1707C>A)
c.1123C>A (p.Leu375Met)
c.985C>A (p.Leu329Met)
c.973+105C>A (n.973+105C>A)
 COSMIC
3g.24127566A=CA1351825284THRBc.1077T= (p.Ser359=)
c.*1706T= (n.*1706T=)
c.1122T= (p.Ser374=)
c.984T= (p.Ser328=)
c.973+104T= (n.973+104T=)
3g.24127566A>CCA432916267THRBc.1077T>G (p.Ser359=)
c.*1706T>G (n.*1706T>G)
c.1122T>G (p.Ser374=)
c.984T>G (p.Ser328=)
c.973+104T>G (n.973+104T>G)
3g.24127566A>GCA432916268THRBc.1077T>C (p.Ser359=)
c.*1706T>C (n.*1706T>C)
c.1122T>C (p.Ser374=)
c.984T>C (p.Ser328=)
c.973+104T>C (n.973+104T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.24127566A>TCA432916269THRBc.1077T>A (p.Ser359=)
c.*1706T>A (n.*1706T>A)
c.1122T>A (p.Ser374=)
c.984T>A (p.Ser328=)
c.973+104T>A (n.973+104T>A)
3g.24127567G>ACA351888619THRBc.1076C>T (p.Ser359Phe)
c.*1705C>T (n.*1705C>T)
c.1121C>T (p.Ser374Phe)
c.983C>T (p.Ser328Phe)
c.973+103C>T (n.973+103C>T)
 ClinVar dbSNP
3g.24127567G>CCA351888620THRBc.1076C>G (p.Ser359Cys)
c.*1705C>G (n.*1705C>G)
c.1121C>G (p.Ser374Cys)
c.983C>G (p.Ser328Cys)
c.973+103C>G (n.973+103C>G)
3g.24127567G=CA1351825288THRBc.1076C= (p.Ser359=)
c.*1705C= (n.*1705C=)
c.1121C= (p.Ser374=)
c.983C= (p.Ser328=)
c.973+103C= (n.973+103C=)
3g.24127567G>TCA351888621THRBc.1076C>A (p.Ser359Tyr)
c.*1705C>A (n.*1705C>A)
c.1121C>A (p.Ser374Tyr)
c.983C>A (p.Ser328Tyr)
c.973+103C>A (n.973+103C>A)
3g.24127568A>CCA351888622THRBc.1075T>G (p.Ser359Ala)
c.*1704T>G (n.*1704T>G)
c.1120T>G (p.Ser374Ala)
c.982T>G (p.Ser328Ala)
c.973+102T>G (n.973+102T>G)
3g.24127568A>GCA351888623THRBc.1075T>C (p.Ser359Pro)
c.*1704T>C (n.*1704T>C)
c.1120T>C (p.Ser374Pro)
c.982T>C (p.Ser328Pro)
c.973+102T>C (n.973+102T>C)
 gnomAD v4
3g.24127568A>TCA351888624THRBc.1075T>A (p.Ser359Thr)
c.*1704T>A (n.*1704T>A)
c.1120T>A (p.Ser374Thr)
c.982T>A (p.Ser328Thr)
c.973+102T>A (n.973+102T>A)
3g.24127569C>ACA351888625THRBc.1074G>T (p.Met358Ile)
c.*1703G>T (n.*1703G>T)
c.1119G>T (p.Met373Ile)
c.981G>T (p.Met327Ile)
c.973+101G>T (n.973+101G>T)
3g.24127569C>GCA351888626THRBc.1074G>C (p.Met358Ile)
c.*1703G>C (n.*1703G>C)
c.1119G>C (p.Met373Ile)
c.981G>C (p.Met327Ile)
c.973+101G>C (n.973+101G>C)
3g.24127569C>TCA351888627THRBc.1074G>A (p.Met358Ile)
c.*1703G>A (n.*1703G>A)
c.1119G>A (p.Met373Ile)
c.981G>A (p.Met327Ile)
c.973+101G>A (n.973+101G>A)
 gnomAD v4
3g.24127570A>CCA351888628THRBc.1073T>G (p.Met358Arg)
c.*1702T>G (n.*1702T>G)
c.1118T>G (p.Met373Arg)
c.980T>G (p.Met327Arg)
c.973+100T>G (n.973+100T>G)
3g.24127570A>GCA351888629THRBc.1073T>C (p.Met358Thr)
c.*1702T>C (n.*1702T>C)
c.1118T>C (p.Met373Thr)
c.980T>C (p.Met327Thr)
c.973+100T>C (n.973+100T>C)
 gnomAD v4
3g.24127570A>TCA351888630THRBc.1073T>A (p.Met358Lys)
c.*1702T>A (n.*1702T>A)
c.1118T>A (p.Met373Lys)
c.980T>A (p.Met327Lys)
c.973+100T>A (n.973+100T>A)
3g.24127571T>ACA351888633THRBc.1072A>T (p.Met358Leu)
c.*1701A>T (n.*1701A>T)
c.1117A>T (p.Met373Leu)
c.979A>T (p.Met327Leu)
c.973+99A>T (n.973+99A>T)
3g.24127571T>CCA351888632THRBc.1072A>G (p.Met358Val)
c.*1701A>G (n.*1701A>G)
c.1117A>G (p.Met373Val)
c.979A>G (p.Met327Val)
c.973+99A>G (n.973+99A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.24127571T>GCA351888631THRBc.1072A>C (p.Met358Leu)
c.*1701A>C (n.*1701A>C)
c.1117A>C (p.Met373Leu)
c.979A>C (p.Met327Leu)
c.973+99A>C (n.973+99A>C)
3g.24127571T=CA1351825289THRBc.1072A= (p.Met358=)
c.*1701A= (n.*1701A=)
c.1117A= (p.Met373=)
c.979A= (p.Met327=)
c.973+99A= (n.973+99A=)
3g.24127572G>ACA432916276THRBc.1071C>T (p.Gly357=)
c.*1700C>T (n.*1700C>T)
c.1116C>T (p.Gly372=)
c.978C>T (p.Gly326=)
c.973+98C>T (n.973+98C>T)
 dbSNP
3g.24127572G>CCA432916278THRBc.1071C>G (p.Gly357=)
c.*1700C>G (n.*1700C>G)
c.1116C>G (p.Gly372=)
c.978C>G (p.Gly326=)
c.973+98C>G (n.973+98C>G)
3g.24127572G=CA1351825291THRBc.1071C= (p.Gly357=)
c.*1700C= (n.*1700C=)
c.1116C= (p.Gly372=)
c.978C= (p.Gly326=)
c.973+98C= (n.973+98C=)
3g.24127572G>TCA432916277THRBc.1071C>A (p.Gly357=)
c.*1700C>A (n.*1700C>A)
c.1116C>A (p.Gly372=)
c.978C>A (p.Gly326=)
c.973+98C>A (n.973+98C>A)
3g.24127573C>ACA351888634THRBc.1070G>T (p.Gly357Val)
c.*1699G>T (n.*1699G>T)
c.1115G>T (p.Gly372Val)
c.977G>T (p.Gly326Val)
c.973+97G>T (n.973+97G>T)
3g.24127573C>GCA351888635THRBc.1070G>C (p.Gly357Ala)
c.*1699G>C (n.*1699G>C)
c.1115G>C (p.Gly372Ala)
c.977G>C (p.Gly326Ala)
c.973+97G>C (n.973+97G>C)
3g.24127573C>TCA351888636THRBc.1070G>A (p.Gly357Asp)
c.*1699G>A (n.*1699G>A)
c.1115G>A (p.Gly372Asp)
c.977G>A (p.Gly326Asp)
c.973+97G>A (n.973+97G>A)
3g.24127574C>ACA351888637THRBc.1069G>T (p.Gly357Cys)
c.*1698G>T (n.*1698G>T)
c.1114G>T (p.Gly372Cys)
c.976G>T (p.Gly326Cys)
c.973+96G>T (n.973+96G>T)
3g.24127574C>GCA351888638THRBc.1069G>C (p.Gly357Arg)
c.*1698G>C (n.*1698G>C)
c.1114G>C (p.Gly372Arg)
c.976G>C (p.Gly326Arg)
c.973+96G>C (n.973+96G>C)
3g.24127574C>TCA351888639THRBc.1069G>A (p.Gly357Ser)
c.*1698G>A (n.*1698G>A)
c.1114G>A (p.Gly372Ser)
c.976G>A (p.Gly326Ser)
c.973+96G>A (n.973+96G>A)
3g.24127575C>ACA432916282THRBc.1068G>T (p.Leu356=)
c.*1697G>T (n.*1697G>T)
c.1113G>T (p.Leu371=)
c.975G>T (p.Leu325=)
c.973+95G>T (n.973+95G>T)
3g.24127575C=CA1351825295THRBc.1068G= (p.Leu356=)
c.*1697G= (n.*1697G=)
c.1113G= (p.Leu371=)
c.975G= (p.Leu325=)
c.973+95G= (n.973+95G=)
3g.24127575C>GCA432916283THRBc.1068G>C (p.Leu356=)
c.*1697G>C (n.*1697G>C)
c.1113G>C (p.Leu371=)
c.975G>C (p.Leu325=)
c.973+95G>C (n.973+95G>C)
3g.24127575C>TCA432916284THRBc.1068G>A (p.Leu356=)
c.*1697G>A (n.*1697G>A)
c.1113G>A (p.Leu371=)
c.975G>A (p.Leu325=)
c.973+95G>A (n.973+95G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.24127576A>CCA351888640THRBc.1067T>G (p.Leu356Arg)
c.*1696T>G (n.*1696T>G)
c.1112T>G (p.Leu371Arg)
c.974T>G (p.Leu325Arg)
c.973+94T>G (n.973+94T>G)
3g.24127576A>GCA351888641THRBc.1067T>C (p.Leu356Pro)
c.*1696T>C (n.*1696T>C)
c.1112T>C (p.Leu371Pro)
c.974T>C (p.Leu325Pro)
c.973+94T>C (n.973+94T>C)
3g.24127576A>TCA351888642THRBc.1067T>A (p.Leu356Gln)
c.*1696T>A (n.*1696T>A)
c.1112T>A (p.Leu371Gln)
c.974T>A (p.Leu325Gln)
c.973+94T>A (n.973+94T>A)
3g.24127577G>ACA432916287THRBc.1066C>T (p.Leu356=)
c.*1695C>T (n.*1695C>T)
c.1111C>T (p.Leu371=)
c.973C>T (p.Leu325=)
c.973+93C>T (n.973+93C>T)
 gnomAD v4
3g.24127577G>CCA351888643THRBc.1066C>G (p.Leu356Val)
c.*1695C>G (n.*1695C>G)
c.1111C>G (p.Leu371Val)
c.973C>G (p.Leu325Val)
c.973+93C>G (n.973+93C>G)
3g.24127577G>TCA351888644THRBc.1066C>A (p.Leu356Met)
c.*1695C>A (n.*1695C>A)
c.1111C>A (p.Leu371Met)
c.973C>A (p.Leu325Met)
c.973+93C>A (n.973+93C>A)
3g.24127578G>ACA432916288THRBc.1065C>T (p.Asp355=)
c.*1694C>T (n.*1694C>T)
c.1110C>T (p.Asp370=)
c.972C>T (p.Asp324=)
c.973+92C>T (n.973+92C>T)
3g.24127578G>CCA351888645THRBc.1065C>G (p.Asp355Glu)
c.*1694C>G (n.*1694C>G)
c.1110C>G (p.Asp370Glu)
c.972C>G (p.Asp324Glu)
c.973+92C>G (n.973+92C>G)
3g.24127578G>TCA351888646THRBc.1065C>A (p.Asp355Glu)
c.*1694C>A (n.*1694C>A)
c.1110C>A (p.Asp370Glu)
c.972C>A (p.Asp324Glu)
c.973+92C>A (n.973+92C>A)
 gnomAD v4
3g.24127579T>ACA351888648THRBc.1064A>T (p.Asp355Val)
c.*1693A>T (n.*1693A>T)
c.1109A>T (p.Asp370Val)
c.971A>T (p.Asp324Val)
c.973+91A>T (n.973+91A>T)
3g.24127579T>CCA351888649THRBc.1064A>G (p.Asp355Gly)
c.*1693A>G (n.*1693A>G)
c.1109A>G (p.Asp370Gly)
c.971A>G (p.Asp324Gly)
c.973+91A>G (n.973+91A>G)
3g.24127579T>GCA351888647THRBc.1064A>C (p.Asp355Ala)
c.*1693A>C (n.*1693A>C)
c.1109A>C (p.Asp370Ala)
c.971A>C (p.Asp324Ala)
c.973+91A>C (n.973+91A>C)
3g.24127580C>ACA351888650THRBc.1063G>T (p.Asp355Tyr)
c.*1692G>T (n.*1692G>T)
c.1108G>T (p.Asp370Tyr)
c.970G>T (p.Asp324Tyr)
c.973+90G>T (n.973+90G>T)
3g.24127580C>GCA351888651THRBc.1063G>C (p.Asp355His)
c.*1692G>C (n.*1692G>C)
c.1108G>C (p.Asp370His)
c.970G>C (p.Asp324His)
c.973+90G>C (n.973+90G>C)
3g.24127580C>TCA351888652THRBc.1063G>A (p.Asp355Asn)
c.*1692G>A (n.*1692G>A)
c.1108G>A (p.Asp370Asn)
c.970G>A (p.Asp324Asn)
c.973+90G>A (n.973+90G>A)

Number of alleles fetched