Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48963566C>ACA346768034FSHRc.1255G>T (p.Ala419Ser)
c.1177G>T (p.Ala393Ser)
c.1357G>T (p.Ala453Ser)
c.1024G>T (p.Ala342Ser)
c.463G>T (p.Ala155Ser)
c.956+5132G>T (n.956+5132G>T)
2g.48963566C=CA1248751218FSHRc.1255G= (p.Ala419=)
c.1177G= (p.Ala393=)
c.1357G= (p.Ala453=)
c.1024G= (p.Ala342=)
c.463G= (p.Ala155=)
c.956+5132G= (n.956+5132G=)
2g.48963566C>GCA346768035FSHRc.1255G>C (p.Ala419Pro)
c.1177G>C (p.Ala393Pro)
c.1357G>C (p.Ala453Pro)
c.1024G>C (p.Ala342Pro)
c.463G>C (p.Ala155Pro)
c.956+5132G>C (n.956+5132G>C)
 dbSNP gnomAD v3 gnomAD v4
2g.48963566C>TCA126310FSHRc.1255G>A (p.Ala419Thr)
c.1177G>A (p.Ala393Thr)
c.1357G>A (p.Ala453Thr)
c.1024G>A (p.Ala342Thr)
c.463G>A (p.Ala155Thr)
c.956+5132G>A (n.956+5132G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963567A>CCA346768036FSHRc.1254T>G (p.Ile418Met)
c.1176T>G (p.Ile392Met)
c.1356T>G (p.Ile452Met)
c.1023T>G (p.Ile341Met)
c.462T>G (p.Ile154Met)
c.956+5131T>G (n.956+5131T>G)
2g.48963567A>GCA426125624FSHRc.1254T>C (p.Ile418=)
c.1176T>C (p.Ile392=)
c.1356T>C (p.Ile452=)
c.1023T>C (p.Ile341=)
c.462T>C (p.Ile154=)
c.956+5131T>C (n.956+5131T>C)
2g.48963567A>TCA426125626FSHRc.1254T>A (p.Ile418=)
c.1176T>A (p.Ile392=)
c.1356T>A (p.Ile452=)
c.1023T>A (p.Ile341=)
c.462T>A (p.Ile154=)
c.956+5131T>A (n.956+5131T>A)
2g.48963568A=CA1248751219FSHRc.1253T= (p.Ile418=)
c.1175T= (p.Ile392=)
c.1355T= (p.Ile452=)
c.1022T= (p.Ile341=)
c.461T= (p.Ile154=)
c.956+5130T= (n.956+5130T=)
2g.48963568A>CCA346768037FSHRc.1253T>G (p.Ile418Ser)
c.1175T>G (p.Ile392Ser)
c.1355T>G (p.Ile452Ser)
c.1022T>G (p.Ile341Ser)
c.461T>G (p.Ile154Ser)
c.956+5130T>G (n.956+5130T>G)
2g.48963568A>GCA346768038FSHRc.1253T>C (p.Ile418Thr)
c.1175T>C (p.Ile392Thr)
c.1355T>C (p.Ile452Thr)
c.1022T>C (p.Ile341Thr)
c.461T>C (p.Ile154Thr)
c.956+5130T>C (n.956+5130T>C)
 dbSNP gnomAD v2 gnomAD v4
2g.48963568A>TCA346768039FSHRc.1253T>A (p.Ile418Asn)
c.1175T>A (p.Ile392Asn)
c.1355T>A (p.Ile452Asn)
c.1022T>A (p.Ile341Asn)
c.461T>A (p.Ile154Asn)
c.956+5130T>A (n.956+5130T>A)
2g.48963569T>ACA346768040FSHRc.1252A>T (p.Ile418Phe)
c.1174A>T (p.Ile392Phe)
c.1354A>T (p.Ile452Phe)
c.1021A>T (p.Ile341Phe)
c.460A>T (p.Ile154Phe)
c.956+5129A>T (n.956+5129A>T)
2g.48963569T>CCA346768041FSHRc.1252A>G (p.Ile418Val)
c.1174A>G (p.Ile392Val)
c.1354A>G (p.Ile452Val)
c.1021A>G (p.Ile341Val)
c.460A>G (p.Ile154Val)
c.956+5129A>G (n.956+5129A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.48963569T>GCA346768042FSHRc.1252A>C (p.Ile418Leu)
c.1174A>C (p.Ile392Leu)
c.1354A>C (p.Ile452Leu)
c.1021A>C (p.Ile341Leu)
c.460A>C (p.Ile154Leu)
c.956+5129A>C (n.956+5129A>C)
2g.48963569T=CA1248751220FSHRc.1252A= (p.Ile418=)
c.1174A= (p.Ile392=)
c.1354A= (p.Ile452=)
c.1021A= (p.Ile341=)
c.460A= (p.Ile154=)
c.956+5129A= (n.956+5129A=)
2g.48963570G>ACA426125629FSHRc.1251C>T (p.Leu417=)
c.1173C>T (p.Leu391=)
c.1353C>T (p.Leu451=)
c.1020C>T (p.Leu340=)
c.459C>T (p.Leu153=)
c.956+5128C>T (n.956+5128C>T)
 gnomAD v4
2g.48963570G>CCA426125630FSHRc.1251C>G (p.Leu417=)
c.1173C>G (p.Leu391=)
c.1353C>G (p.Leu451=)
c.1020C>G (p.Leu340=)
c.459C>G (p.Leu153=)
c.956+5128C>G (n.956+5128C>G)
 gnomAD v4
2g.48963570G>TCA426125632FSHRc.1251C>A (p.Leu417=)
c.1173C>A (p.Leu391=)
c.1353C>A (p.Leu451=)
c.1020C>A (p.Leu340=)
c.459C>A (p.Leu153=)
c.956+5128C>A (n.956+5128C>A)
2g.48963571A=CA1248751221FSHRc.1250T= (p.Leu417=)
c.1172T= (p.Leu391=)
c.1352T= (p.Leu451=)
c.1019T= (p.Leu340=)
c.458T= (p.Leu153=)
c.956+5127T= (n.956+5127T=)
2g.48963571A>CCA346768043FSHRc.1250T>G (p.Leu417Arg)
c.1172T>G (p.Leu391Arg)
c.1352T>G (p.Leu451Arg)
c.1019T>G (p.Leu340Arg)
c.458T>G (p.Leu153Arg)
c.956+5127T>G (n.956+5127T>G)
2g.48963571A>GCA346768044FSHRc.1250T>C (p.Leu417Pro)
c.1172T>C (p.Leu391Pro)
c.1352T>C (p.Leu451Pro)
c.1019T>C (p.Leu340Pro)
c.458T>C (p.Leu153Pro)
c.956+5127T>C (n.956+5127T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.48963571A>TCA346768045FSHRc.1250T>A (p.Leu417His)
c.1172T>A (p.Leu391His)
c.1352T>A (p.Leu451His)
c.1019T>A (p.Leu340His)
c.458T>A (p.Leu153His)
c.956+5127T>A (n.956+5127T>A)
2g.48963572G>ACA346768048FSHRc.1249C>T (p.Leu417Phe)
c.1171C>T (p.Leu391Phe)
c.1351C>T (p.Leu451Phe)
c.1018C>T (p.Leu340Phe)
c.457C>T (p.Leu153Phe)
c.956+5126C>T (n.956+5126C>T)
 gnomAD v4
2g.48963572G>CCA346768047FSHRc.1249C>G (p.Leu417Val)
c.1171C>G (p.Leu391Val)
c.1351C>G (p.Leu451Val)
c.1018C>G (p.Leu340Val)
c.457C>G (p.Leu153Val)
c.956+5126C>G (n.956+5126C>G)
2g.48963572G>TCA346768046FSHRc.1249C>A (p.Leu417Ile)
c.1171C>A (p.Leu391Ile)
c.1351C>A (p.Leu451Ile)
c.1018C>A (p.Leu340Ile)
c.457C>A (p.Leu153Ile)
c.956+5126C>A (n.956+5126C>A)
2g.48963573C>ACA426125641FSHRc.1248G>T (p.Leu416=)
c.1170G>T (p.Leu390=)
c.1350G>T (p.Leu450=)
c.1017G>T (p.Leu339=)
c.456G>T (p.Leu152=)
c.956+5125G>T (n.956+5125G>T)
 gnomAD v4 COSMIC
2g.48963573C=CA1248751222FSHRc.1248G= (p.Leu416=)
c.1170G= (p.Leu390=)
c.1350G= (p.Leu450=)
c.1017G= (p.Leu339=)
c.456G= (p.Leu152=)
c.956+5125G= (n.956+5125G=)
2g.48963573C>GCA1653694FSHRc.1248G>C (p.Leu416=)
c.1170G>C (p.Leu390=)
c.1350G>C (p.Leu450=)
c.1017G>C (p.Leu339=)
c.456G>C (p.Leu152=)
c.956+5125G>C (n.956+5125G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48963573C>TCA426125639FSHRc.1248G>A (p.Leu416=)
c.1170G>A (p.Leu390=)
c.1350G>A (p.Leu450=)
c.1017G>A (p.Leu339=)
c.456G>A (p.Leu152=)
c.956+5125G>A (n.956+5125G>A)
 dbSNP gnomAD v4
2g.48963574A=CA1248751223FSHRc.1247T= (p.Leu416=)
c.1169T= (p.Leu390=)
c.1349T= (p.Leu450=)
c.1016T= (p.Leu339=)
c.455T= (p.Leu152=)
c.956+5124T= (n.956+5124T=)
2g.48963574A>CCA346768051FSHRc.1247T>G (p.Leu416Arg)
c.1169T>G (p.Leu390Arg)
c.1349T>G (p.Leu450Arg)
c.1016T>G (p.Leu339Arg)
c.455T>G (p.Leu152Arg)
c.956+5124T>G (n.956+5124T>G)
2g.48963574A>GCA346768049FSHRc.1247T>C (p.Leu416Pro)
c.1169T>C (p.Leu390Pro)
c.1349T>C (p.Leu450Pro)
c.1016T>C (p.Leu339Pro)
c.455T>C (p.Leu152Pro)
c.956+5124T>C (n.956+5124T>C)
2g.48963574A>TCA346768050FSHRc.1247T>A (p.Leu416Gln)
c.1169T>A (p.Leu390Gln)
c.1349T>A (p.Leu450Gln)
c.1016T>A (p.Leu339Gln)
c.455T>A (p.Leu152Gln)
c.956+5124T>A (n.956+5124T>A)
 dbSNP
2g.48963575G>ACA426125643FSHRc.1246C>T (p.Leu416=)
c.1168C>T (p.Leu390=)
c.1348C>T (p.Leu450=)
c.1015C>T (p.Leu339=)
c.454C>T (p.Leu152=)
c.956+5123C>T (n.956+5123C>T)
 dbSNP gnomAD v4
2g.48963575G>CCA346768052FSHRc.1246C>G (p.Leu416Val)
c.1168C>G (p.Leu390Val)
c.1348C>G (p.Leu450Val)
c.1015C>G (p.Leu339Val)
c.454C>G (p.Leu152Val)
c.956+5123C>G (n.956+5123C>G)
 gnomAD v4
2g.48963575G>TCA346768053FSHRc.1246C>A (p.Leu416Met)
c.1168C>A (p.Leu390Met)
c.1348C>A (p.Leu450Met)
c.1015C>A (p.Leu339Met)
c.454C>A (p.Leu152Met)
c.956+5123C>A (n.956+5123C>A)
2g.48963576C>ACA426125645FSHRc.1245G>T (p.Leu415=)
c.1167G>T (p.Leu389=)
c.1347G>T (p.Leu449=)
c.1014G>T (p.Leu338=)
c.453G>T (p.Leu151=)
c.956+5122G>T (n.956+5122G>T)
2g.48963576C>GCA426125647FSHRc.1245G>C (p.Leu415=)
c.1167G>C (p.Leu389=)
c.1347G>C (p.Leu449=)
c.1014G>C (p.Leu338=)
c.453G>C (p.Leu151=)
c.956+5122G>C (n.956+5122G>C)
2g.48963576C>TCA426125648FSHRc.1245G>A (p.Leu415=)
c.1167G>A (p.Leu389=)
c.1347G>A (p.Leu449=)
c.1014G>A (p.Leu338=)
c.453G>A (p.Leu151=)
c.956+5122G>A (n.956+5122G>A)
2g.48963577A>CCA346768054FSHRc.1244T>G (p.Leu415Arg)
c.1166T>G (p.Leu389Arg)
c.1346T>G (p.Leu449Arg)
c.1013T>G (p.Leu338Arg)
c.452T>G (p.Leu151Arg)
c.956+5121T>G (n.956+5121T>G)
2g.48963577A>GCA346768055FSHRc.1244T>C (p.Leu415Pro)
c.1166T>C (p.Leu389Pro)
c.1346T>C (p.Leu449Pro)
c.1013T>C (p.Leu338Pro)
c.452T>C (p.Leu151Pro)
c.956+5121T>C (n.956+5121T>C)
2g.48963577A>TCA346768056FSHRc.1244T>A (p.Leu415Gln)
c.1166T>A (p.Leu389Gln)
c.1346T>A (p.Leu449Gln)
c.1013T>A (p.Leu338Gln)
c.452T>A (p.Leu151Gln)
c.956+5121T>A (n.956+5121T>A)
2g.48963578G>ACA426125656FSHRc.1243C>T (p.Leu415=)
c.1165C>T (p.Leu389=)
c.1345C>T (p.Leu449=)
c.1012C>T (p.Leu338=)
c.451C>T (p.Leu151=)
c.956+5120C>T (n.956+5120C>T)
2g.48963578G>CCA346768057FSHRc.1243C>G (p.Leu415Val)
c.1165C>G (p.Leu389Val)
c.1345C>G (p.Leu449Val)
c.1012C>G (p.Leu338Val)
c.451C>G (p.Leu151Val)
c.956+5120C>G (n.956+5120C>G)
2g.48963578G>TCA346768058FSHRc.1243C>A (p.Leu415Met)
c.1165C>A (p.Leu389Met)
c.1345C>A (p.Leu449Met)
c.1012C>A (p.Leu338Met)
c.451C>A (p.Leu151Met)
c.956+5120C>A (n.956+5120C>A)
2g.48963579G>ACA426125663FSHRc.1242C>T (p.Tyr414=)
c.1164C>T (p.Tyr388=)
c.1344C>T (p.Tyr448=)
c.1011C>T (p.Tyr337=)
c.450C>T (p.Tyr150=)
c.956+5119C>T (n.956+5119C>T)
 gnomAD v4
2g.48963579G>CCA346768059FSHRc.1242C>G (p.Tyr414Ter)
c.1164C>G (p.Tyr388Ter)
c.1344C>G (p.Tyr448Ter)
c.1011C>G (p.Tyr337Ter)
c.450C>G (p.Tyr150Ter)
c.956+5119C>G (n.956+5119C>G)
2g.48963579G>TCA346768060FSHRc.1242C>A (p.Tyr414Ter)
c.1164C>A (p.Tyr388Ter)
c.1344C>A (p.Tyr448Ter)
c.1011C>A (p.Tyr337Ter)
c.450C>A (p.Tyr150Ter)
c.956+5119C>A (n.956+5119C>A)
2g.48963580T>ACA346768063FSHRc.1241A>T (p.Tyr414Phe)
c.1163A>T (p.Tyr388Phe)
c.1343A>T (p.Tyr448Phe)
c.1010A>T (p.Tyr337Phe)
c.449A>T (p.Tyr150Phe)
c.956+5118A>T (n.956+5118A>T)
2g.48963580T>CCA346768062FSHRc.1241A>G (p.Tyr414Cys)
c.1163A>G (p.Tyr388Cys)
c.1343A>G (p.Tyr448Cys)
c.1010A>G (p.Tyr337Cys)
c.449A>G (p.Tyr150Cys)
c.956+5118A>G (n.956+5118A>G)
 dbSNP

Number of alleles fetched