Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688486A>CCA346747503GTF2A1L,LHCGR,STON1-GTF2A1Lc.1311T>G (p.Ser437Arg)
c.948-347T>G (n.948-347T>G)
c.3441+16806A>C (n.3441+16806A>C)
c.*55T>G (n.*55T>G)
c.1230T>G (p.Ser410Arg)
c.276+16806A>C (n.276+16806A>C)
c.*220+5738T>G (n.*220+5738T>G)
c.354T>G (p.Ser118Arg)
c.381T>G (p.Ser127Arg)
c.1236T>G (p.Ser412Arg)
c.1050T>G (p.Ser350Arg)
c.969T>G (p.Ser323Arg)
c.675T>G (p.Ser225Arg)
c.1056T>G (p.Ser352Arg)
2g.48688486A>GCA426125533GTF2A1L,LHCGR,STON1-GTF2A1Lc.1311T>C (p.Ser437=)
c.948-347T>C (n.948-347T>C)
c.3441+16806A>G (n.3441+16806A>G)
c.*55T>C (n.*55T>C)
c.1230T>C (p.Ser410=)
c.276+16806A>G (n.276+16806A>G)
c.*220+5738T>C (n.*220+5738T>C)
c.354T>C (p.Ser118=)
c.381T>C (p.Ser127=)
c.1236T>C (p.Ser412=)
c.1050T>C (p.Ser350=)
c.969T>C (p.Ser323=)
c.675T>C (p.Ser225=)
c.1056T>C (p.Ser352=)
 gnomAD v4
2g.48688486A>TCA346747504GTF2A1L,LHCGR,STON1-GTF2A1Lc.1311T>A (p.Ser437Arg)
c.948-347T>A (n.948-347T>A)
c.3441+16806A>T (n.3441+16806A>T)
c.*55T>A (n.*55T>A)
c.1230T>A (p.Ser410Arg)
c.276+16806A>T (n.276+16806A>T)
c.*220+5738T>A (n.*220+5738T>A)
c.354T>A (p.Ser118Arg)
c.381T>A (p.Ser127Arg)
c.1236T>A (p.Ser412Arg)
c.1050T>A (p.Ser350Arg)
c.969T>A (p.Ser323Arg)
c.675T>A (p.Ser225Arg)
c.1056T>A (p.Ser352Arg)
2g.48688487C>ACA346747507GTF2A1L,LHCGR,STON1-GTF2A1Lc.1310G>T (p.Ser437Ile)
c.948-348G>T (n.948-348G>T)
c.3441+16807C>A (n.3441+16807C>A)
c.*54G>T (n.*54G>T)
c.1229G>T (p.Ser410Ile)
c.276+16807C>A (n.276+16807C>A)
c.*220+5737G>T (n.*220+5737G>T)
c.353G>T (p.Ser118Ile)
c.380G>T (p.Ser127Ile)
c.1235G>T (p.Ser412Ile)
c.1049G>T (p.Ser350Ile)
c.968G>T (p.Ser323Ile)
c.674G>T (p.Ser225Ile)
c.1055G>T (p.Ser352Ile)
2g.48688487C>GCA346747508GTF2A1L,LHCGR,STON1-GTF2A1Lc.1310G>C (p.Ser437Thr)
c.948-348G>C (n.948-348G>C)
c.3441+16807C>G (n.3441+16807C>G)
c.*54G>C (n.*54G>C)
c.1229G>C (p.Ser410Thr)
c.276+16807C>G (n.276+16807C>G)
c.*220+5737G>C (n.*220+5737G>C)
c.353G>C (p.Ser118Thr)
c.380G>C (p.Ser127Thr)
c.1235G>C (p.Ser412Thr)
c.1049G>C (p.Ser350Thr)
c.968G>C (p.Ser323Thr)
c.674G>C (p.Ser225Thr)
c.1055G>C (p.Ser352Thr)
2g.48688487C>TCA346747510GTF2A1L,LHCGR,STON1-GTF2A1Lc.1310G>A (p.Ser437Asn)
c.948-348G>A (n.948-348G>A)
c.3441+16807C>T (n.3441+16807C>T)
c.*54G>A (n.*54G>A)
c.1229G>A (p.Ser410Asn)
c.276+16807C>T (n.276+16807C>T)
c.*220+5737G>A (n.*220+5737G>A)
c.353G>A (p.Ser118Asn)
c.380G>A (p.Ser127Asn)
c.1235G>A (p.Ser412Asn)
c.1049G>A (p.Ser350Asn)
c.968G>A (p.Ser323Asn)
c.674G>A (p.Ser225Asn)
c.1055G>A (p.Ser352Asn)
2g.48688488T>ACA346747511GTF2A1L,LHCGR,STON1-GTF2A1Lc.1309A>T (p.Ser437Cys)
c.948-349A>T (n.948-349A>T)
c.3441+16808T>A (n.3441+16808T>A)
c.*53A>T (n.*53A>T)
c.1228A>T (p.Ser410Cys)
c.276+16808T>A (n.276+16808T>A)
c.*220+5736A>T (n.*220+5736A>T)
c.352A>T (p.Ser118Cys)
c.379A>T (p.Ser127Cys)
c.1234A>T (p.Ser412Cys)
c.1048A>T (p.Ser350Cys)
c.967A>T (p.Ser323Cys)
c.673A>T (p.Ser225Cys)
c.1054A>T (p.Ser352Cys)
2g.48688488T>CCA346747513GTF2A1L,LHCGR,STON1-GTF2A1Lc.1309A>G (p.Ser437Gly)
c.948-349A>G (n.948-349A>G)
c.3441+16808T>C (n.3441+16808T>C)
c.*53A>G (n.*53A>G)
c.1228A>G (p.Ser410Gly)
c.276+16808T>C (n.276+16808T>C)
c.*220+5736A>G (n.*220+5736A>G)
c.352A>G (p.Ser118Gly)
c.379A>G (p.Ser127Gly)
c.1234A>G (p.Ser412Gly)
c.1048A>G (p.Ser350Gly)
c.967A>G (p.Ser323Gly)
c.673A>G (p.Ser225Gly)
c.1054A>G (p.Ser352Gly)
2g.48688488T>GCA346747514GTF2A1L,LHCGR,STON1-GTF2A1Lc.1309A>C (p.Ser437Arg)
c.948-349A>C (n.948-349A>C)
c.3441+16808T>G (n.3441+16808T>G)
c.*53A>C (n.*53A>C)
c.1228A>C (p.Ser410Arg)
c.276+16808T>G (n.276+16808T>G)
c.*220+5736A>C (n.*220+5736A>C)
c.352A>C (p.Ser118Arg)
c.379A>C (p.Ser127Arg)
c.1234A>C (p.Ser412Arg)
c.1048A>C (p.Ser350Arg)
c.967A>C (p.Ser323Arg)
c.673A>C (p.Ser225Arg)
c.1054A>C (p.Ser352Arg)
2g.48688489C>ACA46753041GTF2A1L,LHCGR,STON1-GTF2A1Lc.1308G>T (p.Gly436=)
c.948-350G>T (n.948-350G>T)
c.3441+16809C>A (n.3441+16809C>A)
c.*52G>T (n.*52G>T)
c.1227G>T (p.Gly409=)
c.276+16809C>A (n.276+16809C>A)
c.*220+5735G>T (n.*220+5735G>T)
c.351G>T (p.Gly117=)
c.378G>T (p.Gly126=)
c.1233G>T (p.Gly411=)
c.1047G>T (p.Gly349=)
c.966G>T (p.Gly322=)
c.672G>T (p.Gly224=)
c.1053G>T (p.Gly351=)
 dbSNP
2g.48688489C=CA1248601155GTF2A1L,LHCGR,STON1-GTF2A1Lc.1308G= (p.Gly436=)
c.948-350G= (n.948-350G=)
c.3441+16809C= (n.3441+16809C=)
c.*52G= (n.*52G=)
c.1227G= (p.Gly409=)
c.276+16809C= (n.276+16809C=)
c.*220+5735G= (n.*220+5735G=)
c.351G= (p.Gly117=)
c.378G= (p.Gly126=)
c.1233G= (p.Gly411=)
c.1047G= (p.Gly349=)
c.966G= (p.Gly322=)
c.672G= (p.Gly224=)
c.1053G= (p.Gly351=)
2g.48688489C>GCA426125542GTF2A1L,LHCGR,STON1-GTF2A1Lc.1308G>C (p.Gly436=)
c.948-350G>C (n.948-350G>C)
c.3441+16809C>G (n.3441+16809C>G)
c.*52G>C (n.*52G>C)
c.1227G>C (p.Gly409=)
c.276+16809C>G (n.276+16809C>G)
c.*220+5735G>C (n.*220+5735G>C)
c.351G>C (p.Gly117=)
c.378G>C (p.Gly126=)
c.1233G>C (p.Gly411=)
c.1047G>C (p.Gly349=)
c.966G>C (p.Gly322=)
c.672G>C (p.Gly224=)
c.1053G>C (p.Gly351=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688489C>TCA1653047GTF2A1L,LHCGR,STON1-GTF2A1Lc.1308G>A (p.Gly436=)
c.948-350G>A (n.948-350G>A)
c.3441+16809C>T (n.3441+16809C>T)
c.*52G>A (n.*52G>A)
c.1227G>A (p.Gly409=)
c.276+16809C>T (n.276+16809C>T)
c.*220+5735G>A (n.*220+5735G>A)
c.351G>A (p.Gly117=)
c.378G>A (p.Gly126=)
c.1233G>A (p.Gly411=)
c.1047G>A (p.Gly349=)
c.966G>A (p.Gly322=)
c.672G>A (p.Gly224=)
c.1053G>A (p.Gly351=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688490C>ACA346747518GTF2A1L,LHCGR,STON1-GTF2A1Lc.1307G>T (p.Gly436Val)
c.948-351G>T (n.948-351G>T)
c.3441+16810C>A (n.3441+16810C>A)
c.*51G>T (n.*51G>T)
c.1226G>T (p.Gly409Val)
c.276+16810C>A (n.276+16810C>A)
c.*220+5734G>T (n.*220+5734G>T)
c.350G>T (p.Gly117Val)
c.377G>T (p.Gly126Val)
c.1232G>T (p.Gly411Val)
c.1046G>T (p.Gly349Val)
c.965G>T (p.Gly322Val)
c.671G>T (p.Gly224Val)
c.1052G>T (p.Gly351Val)
 dbSNP
2g.48688490C=CA1248601156GTF2A1L,LHCGR,STON1-GTF2A1Lc.1307G= (p.Gly436=)
c.948-351G= (n.948-351G=)
c.3441+16810C= (n.3441+16810C=)
c.*51G= (n.*51G=)
c.1226G= (p.Gly409=)
c.276+16810C= (n.276+16810C=)
c.*220+5734G= (n.*220+5734G=)
c.350G= (p.Gly117=)
c.377G= (p.Gly126=)
c.1232G= (p.Gly411=)
c.1046G= (p.Gly349=)
c.965G= (p.Gly322=)
c.671G= (p.Gly224=)
c.1052G= (p.Gly351=)
2g.48688490C>GCA346747520GTF2A1L,LHCGR,STON1-GTF2A1Lc.1307G>C (p.Gly436Ala)
c.948-351G>C (n.948-351G>C)
c.3441+16810C>G (n.3441+16810C>G)
c.*51G>C (n.*51G>C)
c.1226G>C (p.Gly409Ala)
c.276+16810C>G (n.276+16810C>G)
c.*220+5734G>C (n.*220+5734G>C)
c.350G>C (p.Gly117Ala)
c.377G>C (p.Gly126Ala)
c.1232G>C (p.Gly411Ala)
c.1046G>C (p.Gly349Ala)
c.965G>C (p.Gly322Ala)
c.671G>C (p.Gly224Ala)
c.1052G>C (p.Gly351Ala)
2g.48688490C>TCA346747517GTF2A1L,LHCGR,STON1-GTF2A1Lc.1307G>A (p.Gly436Glu)
c.948-351G>A (n.948-351G>A)
c.3441+16810C>T (n.3441+16810C>T)
c.*51G>A (n.*51G>A)
c.1226G>A (p.Gly409Glu)
c.276+16810C>T (n.276+16810C>T)
c.*220+5734G>A (n.*220+5734G>A)
c.350G>A (p.Gly117Glu)
c.377G>A (p.Gly126Glu)
c.1232G>A (p.Gly411Glu)
c.1046G>A (p.Gly349Glu)
c.965G>A (p.Gly322Glu)
c.671G>A (p.Gly224Glu)
c.1052G>A (p.Gly351Glu)
 COSMIC
2g.48688491C>ACA346747522GTF2A1L,LHCGR,STON1-GTF2A1Lc.1306G>T (p.Gly436Trp)
c.948-352G>T (n.948-352G>T)
c.3441+16811C>A (n.3441+16811C>A)
c.*50G>T (n.*50G>T)
c.1225G>T (p.Gly409Trp)
c.276+16811C>A (n.276+16811C>A)
c.*220+5733G>T (n.*220+5733G>T)
c.349G>T (p.Gly117Trp)
c.376G>T (p.Gly126Trp)
c.1231G>T (p.Gly411Trp)
c.1045G>T (p.Gly349Trp)
c.964G>T (p.Gly322Trp)
c.670G>T (p.Gly224Trp)
c.1051G>T (p.Gly351Trp)
2g.48688491C>GCA346747523GTF2A1L,LHCGR,STON1-GTF2A1Lc.1306G>C (p.Gly436Arg)
c.948-352G>C (n.948-352G>C)
c.3441+16811C>G (n.3441+16811C>G)
c.*50G>C (n.*50G>C)
c.1225G>C (p.Gly409Arg)
c.276+16811C>G (n.276+16811C>G)
c.*220+5733G>C (n.*220+5733G>C)
c.349G>C (p.Gly117Arg)
c.376G>C (p.Gly126Arg)
c.1231G>C (p.Gly411Arg)
c.1045G>C (p.Gly349Arg)
c.964G>C (p.Gly322Arg)
c.670G>C (p.Gly224Arg)
c.1051G>C (p.Gly351Arg)
2g.48688491C>TCA346747524GTF2A1L,LHCGR,STON1-GTF2A1Lc.1306G>A (p.Gly436Arg)
c.948-352G>A (n.948-352G>A)
c.3441+16811C>T (n.3441+16811C>T)
c.*50G>A (n.*50G>A)
c.1225G>A (p.Gly409Arg)
c.276+16811C>T (n.276+16811C>T)
c.*220+5733G>A (n.*220+5733G>A)
c.349G>A (p.Gly117Arg)
c.376G>A (p.Gly126Arg)
c.1231G>A (p.Gly411Arg)
c.1045G>A (p.Gly349Arg)
c.964G>A (p.Gly322Arg)
c.670G>A (p.Gly224Arg)
c.1051G>A (p.Gly351Arg)
2g.48688492T>ACA426125545GTF2A1L,LHCGR,STON1-GTF2A1Lc.1305A>T (p.Thr435=)
c.948-353A>T (n.948-353A>T)
c.3441+16812T>A (n.3441+16812T>A)
c.*49A>T (n.*49A>T)
c.1224A>T (p.Thr408=)
c.276+16812T>A (n.276+16812T>A)
c.*220+5732A>T (n.*220+5732A>T)
c.348A>T (p.Thr116=)
c.375A>T (p.Thr125=)
c.1230A>T (p.Thr410=)
c.1044A>T (p.Thr348=)
c.963A>T (p.Thr321=)
c.669A>T (p.Thr223=)
c.1050A>T (p.Thr350=)
2g.48688492T>CCA46753055GTF2A1L,LHCGR,STON1-GTF2A1Lc.1305A>G (p.Thr435=)
c.948-353A>G (n.948-353A>G)
c.3441+16812T>C (n.3441+16812T>C)
c.*49A>G (n.*49A>G)
c.1224A>G (p.Thr408=)
c.276+16812T>C (n.276+16812T>C)
c.*220+5732A>G (n.*220+5732A>G)
c.348A>G (p.Thr116=)
c.375A>G (p.Thr125=)
c.1230A>G (p.Thr410=)
c.1044A>G (p.Thr348=)
c.963A>G (p.Thr321=)
c.669A>G (p.Thr223=)
c.1050A>G (p.Thr350=)
 dbSNP gnomAD v4
2g.48688492T>GCA426125555GTF2A1L,LHCGR,STON1-GTF2A1Lc.1305A>C (p.Thr435=)
c.948-353A>C (n.948-353A>C)
c.3441+16812T>G (n.3441+16812T>G)
c.*49A>C (n.*49A>C)
c.1224A>C (p.Thr408=)
c.276+16812T>G (n.276+16812T>G)
c.*220+5732A>C (n.*220+5732A>C)
c.348A>C (p.Thr116=)
c.375A>C (p.Thr125=)
c.1230A>C (p.Thr410=)
c.1044A>C (p.Thr348=)
c.963A>C (p.Thr321=)
c.669A>C (p.Thr223=)
c.1050A>C (p.Thr350=)
2g.48688492T=CA1248601157GTF2A1L,LHCGR,STON1-GTF2A1Lc.1305A= (p.Thr435=)
c.948-353A= (n.948-353A=)
c.3441+16812T= (n.3441+16812T=)
c.*49A= (n.*49A=)
c.1224A= (p.Thr408=)
c.276+16812T= (n.276+16812T=)
c.*220+5732A= (n.*220+5732A=)
c.348A= (p.Thr116=)
c.375A= (p.Thr125=)
c.1230A= (p.Thr410=)
c.1044A= (p.Thr348=)
c.963A= (p.Thr321=)
c.669A= (p.Thr223=)
c.1050A= (p.Thr350=)
2g.48688493G>ACA346747526GTF2A1L,LHCGR,STON1-GTF2A1Lc.1304C>T (p.Thr435Ile)
c.948-354C>T (n.948-354C>T)
c.3441+16813G>A (n.3441+16813G>A)
c.*48C>T (n.*48C>T)
c.1223C>T (p.Thr408Ile)
c.276+16813G>A (n.276+16813G>A)
c.*220+5731C>T (n.*220+5731C>T)
c.347C>T (p.Thr116Ile)
c.374C>T (p.Thr125Ile)
c.1229C>T (p.Thr410Ile)
c.1043C>T (p.Thr348Ile)
c.962C>T (p.Thr321Ile)
c.668C>T (p.Thr223Ile)
c.1049C>T (p.Thr350Ile)
 gnomAD v4
2g.48688493G>CCA346747527GTF2A1L,LHCGR,STON1-GTF2A1Lc.1304C>G (p.Thr435Arg)
c.948-354C>G (n.948-354C>G)
c.3441+16813G>C (n.3441+16813G>C)
c.*48C>G (n.*48C>G)
c.1223C>G (p.Thr408Arg)
c.276+16813G>C (n.276+16813G>C)
c.*220+5731C>G (n.*220+5731C>G)
c.347C>G (p.Thr116Arg)
c.374C>G (p.Thr125Arg)
c.1229C>G (p.Thr410Arg)
c.1043C>G (p.Thr348Arg)
c.962C>G (p.Thr321Arg)
c.668C>G (p.Thr223Arg)
c.1049C>G (p.Thr350Arg)
2g.48688493G>TCA346747529GTF2A1L,LHCGR,STON1-GTF2A1Lc.1304C>A (p.Thr435Lys)
c.948-354C>A (n.948-354C>A)
c.3441+16813G>T (n.3441+16813G>T)
c.*48C>A (n.*48C>A)
c.1223C>A (p.Thr408Lys)
c.276+16813G>T (n.276+16813G>T)
c.*220+5731C>A (n.*220+5731C>A)
c.347C>A (p.Thr116Lys)
c.374C>A (p.Thr125Lys)
c.1229C>A (p.Thr410Lys)
c.1043C>A (p.Thr348Lys)
c.962C>A (p.Thr321Lys)
c.668C>A (p.Thr223Lys)
c.1049C>A (p.Thr350Lys)
2g.48688494T>ACA346747534GTF2A1L,LHCGR,STON1-GTF2A1Lc.1303A>T (p.Thr435Ser)
c.948-355A>T (n.948-355A>T)
c.3441+16814T>A (n.3441+16814T>A)
c.*47A>T (n.*47A>T)
c.1222A>T (p.Thr408Ser)
c.276+16814T>A (n.276+16814T>A)
c.*220+5730A>T (n.*220+5730A>T)
c.346A>T (p.Thr116Ser)
c.373A>T (p.Thr125Ser)
c.1228A>T (p.Thr410Ser)
c.1042A>T (p.Thr348Ser)
c.961A>T (p.Thr321Ser)
c.667A>T (p.Thr223Ser)
c.1048A>T (p.Thr350Ser)
2g.48688494T>CCA346747531GTF2A1L,LHCGR,STON1-GTF2A1Lc.1303A>G (p.Thr435Ala)
c.948-355A>G (n.948-355A>G)
c.3441+16814T>C (n.3441+16814T>C)
c.*47A>G (n.*47A>G)
c.1222A>G (p.Thr408Ala)
c.276+16814T>C (n.276+16814T>C)
c.*220+5730A>G (n.*220+5730A>G)
c.346A>G (p.Thr116Ala)
c.373A>G (p.Thr125Ala)
c.1228A>G (p.Thr410Ala)
c.1042A>G (p.Thr348Ala)
c.961A>G (p.Thr321Ala)
c.667A>G (p.Thr223Ala)
c.1048A>G (p.Thr350Ala)
2g.48688494T>GCA346747533GTF2A1L,LHCGR,STON1-GTF2A1Lc.1303A>C (p.Thr435Pro)
c.948-355A>C (n.948-355A>C)
c.3441+16814T>G (n.3441+16814T>G)
c.*47A>C (n.*47A>C)
c.1222A>C (p.Thr408Pro)
c.276+16814T>G (n.276+16814T>G)
c.*220+5730A>C (n.*220+5730A>C)
c.346A>C (p.Thr116Pro)
c.373A>C (p.Thr125Pro)
c.1228A>C (p.Thr410Pro)
c.1042A>C (p.Thr348Pro)
c.961A>C (p.Thr321Pro)
c.667A>C (p.Thr223Pro)
c.1048A>C (p.Thr350Pro)
2g.48688495C>ACA346747536GTF2A1L,LHCGR,STON1-GTF2A1Lc.1302G>T (p.Gln434His)
c.948-356G>T (n.948-356G>T)
c.3441+16815C>A (n.3441+16815C>A)
c.*46G>T (n.*46G>T)
c.1221G>T (p.Gln407His)
c.276+16815C>A (n.276+16815C>A)
c.*220+5729G>T (n.*220+5729G>T)
c.345G>T (p.Gln115His)
c.372G>T (p.Gln124His)
c.1227G>T (p.Gln409His)
c.1041G>T (p.Gln347His)
c.960G>T (p.Gln320His)
c.666G>T (p.Gln222His)
c.1047G>T (p.Gln349His)
2g.48688495C>GCA346747537GTF2A1L,LHCGR,STON1-GTF2A1Lc.1302G>C (p.Gln434His)
c.948-356G>C (n.948-356G>C)
c.3441+16815C>G (n.3441+16815C>G)
c.*46G>C (n.*46G>C)
c.1221G>C (p.Gln407His)
c.276+16815C>G (n.276+16815C>G)
c.*220+5729G>C (n.*220+5729G>C)
c.345G>C (p.Gln115His)
c.372G>C (p.Gln124His)
c.1227G>C (p.Gln409His)
c.1041G>C (p.Gln347His)
c.960G>C (p.Gln320His)
c.666G>C (p.Gln222His)
c.1047G>C (p.Gln349His)
2g.48688495C>TCA426125564GTF2A1L,LHCGR,STON1-GTF2A1Lc.1302G>A (p.Gln434=)
c.948-356G>A (n.948-356G>A)
c.3441+16815C>T (n.3441+16815C>T)
c.*46G>A (n.*46G>A)
c.1221G>A (p.Gln407=)
c.276+16815C>T (n.276+16815C>T)
c.*220+5729G>A (n.*220+5729G>A)
c.345G>A (p.Gln115=)
c.372G>A (p.Gln124=)
c.1227G>A (p.Gln409=)
c.1041G>A (p.Gln347=)
c.960G>A (p.Gln320=)
c.666G>A (p.Gln222=)
c.1047G>A (p.Gln349=)
2g.48688496T>ACA346747539GTF2A1L,LHCGR,STON1-GTF2A1Lc.1301A>T (p.Gln434Leu)
c.948-357A>T (n.948-357A>T)
c.3441+16816T>A (n.3441+16816T>A)
c.*45A>T (n.*45A>T)
c.1220A>T (p.Gln407Leu)
c.276+16816T>A (n.276+16816T>A)
c.*220+5728A>T (n.*220+5728A>T)
c.344A>T (p.Gln115Leu)
c.371A>T (p.Gln124Leu)
c.1226A>T (p.Gln409Leu)
c.1040A>T (p.Gln347Leu)
c.959A>T (p.Gln320Leu)
c.665A>T (p.Gln222Leu)
c.1046A>T (p.Gln349Leu)
2g.48688496T>CCA346747541GTF2A1L,LHCGR,STON1-GTF2A1Lc.1301A>G (p.Gln434Arg)
c.948-357A>G (n.948-357A>G)
c.3441+16816T>C (n.3441+16816T>C)
c.*45A>G (n.*45A>G)
c.1220A>G (p.Gln407Arg)
c.276+16816T>C (n.276+16816T>C)
c.*220+5728A>G (n.*220+5728A>G)
c.344A>G (p.Gln115Arg)
c.371A>G (p.Gln124Arg)
c.1226A>G (p.Gln409Arg)
c.1040A>G (p.Gln347Arg)
c.959A>G (p.Gln320Arg)
c.665A>G (p.Gln222Arg)
c.1046A>G (p.Gln349Arg)
2g.48688496T>GCA346747542GTF2A1L,LHCGR,STON1-GTF2A1Lc.1301A>C (p.Gln434Pro)
c.948-357A>C (n.948-357A>C)
c.3441+16816T>G (n.3441+16816T>G)
c.*45A>C (n.*45A>C)
c.1220A>C (p.Gln407Pro)
c.276+16816T>G (n.276+16816T>G)
c.*220+5728A>C (n.*220+5728A>C)
c.344A>C (p.Gln115Pro)
c.371A>C (p.Gln124Pro)
c.1226A>C (p.Gln409Pro)
c.1040A>C (p.Gln347Pro)
c.959A>C (p.Gln320Pro)
c.665A>C (p.Gln222Pro)
c.1046A>C (p.Gln349Pro)
2g.48688497G>ACA346747543GTF2A1L,LHCGR,STON1-GTF2A1Lc.1300C>T (p.Gln434Ter)
c.948-358C>T (n.948-358C>T)
c.3441+16817G>A (n.3441+16817G>A)
c.*44C>T (n.*44C>T)
c.1219C>T (p.Gln407Ter)
c.276+16817G>A (n.276+16817G>A)
c.*220+5727C>T (n.*220+5727C>T)
c.343C>T (p.Gln115Ter)
c.370C>T (p.Gln124Ter)
c.1225C>T (p.Gln409Ter)
c.1039C>T (p.Gln347Ter)
c.958C>T (p.Gln320Ter)
c.664C>T (p.Gln222Ter)
c.1045C>T (p.Gln349Ter)
2g.48688497G>CCA1653048GTF2A1L,LHCGR,STON1-GTF2A1Lc.1300C>G (p.Gln434Glu)
c.948-358C>G (n.948-358C>G)
c.3441+16817G>C (n.3441+16817G>C)
c.*44C>G (n.*44C>G)
c.1219C>G (p.Gln407Glu)
c.276+16817G>C (n.276+16817G>C)
c.*220+5727C>G (n.*220+5727C>G)
c.343C>G (p.Gln115Glu)
c.370C>G (p.Gln124Glu)
c.1225C>G (p.Gln409Glu)
c.1039C>G (p.Gln347Glu)
c.958C>G (p.Gln320Glu)
c.664C>G (p.Gln222Glu)
c.1045C>G (p.Gln349Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688497G=CA1248601158GTF2A1L,LHCGR,STON1-GTF2A1Lc.1300C= (p.Gln434=)
c.948-358C= (n.948-358C=)
c.3441+16817G= (n.3441+16817G=)
c.*44C= (n.*44C=)
c.1219C= (p.Gln407=)
c.276+16817G= (n.276+16817G=)
c.*220+5727C= (n.*220+5727C=)
c.343C= (p.Gln115=)
c.370C= (p.Gln124=)
c.1225C= (p.Gln409=)
c.1039C= (p.Gln347=)
c.958C= (p.Gln320=)
c.664C= (p.Gln222=)
c.1045C= (p.Gln349=)
2g.48688497G>TCA346747545GTF2A1L,LHCGR,STON1-GTF2A1Lc.1300C>A (p.Gln434Lys)
c.948-358C>A (n.948-358C>A)
c.3441+16817G>T (n.3441+16817G>T)
c.*44C>A (n.*44C>A)
c.1219C>A (p.Gln407Lys)
c.276+16817G>T (n.276+16817G>T)
c.*220+5727C>A (n.*220+5727C>A)
c.343C>A (p.Gln115Lys)
c.370C>A (p.Gln124Lys)
c.1225C>A (p.Gln409Lys)
c.1039C>A (p.Gln347Lys)
c.958C>A (p.Gln320Lys)
c.664C>A (p.Gln222Lys)
c.1045C>A (p.Gln349Lys)
 COSMIC
2g.48688498C>ACA346747547GTF2A1L,LHCGR,STON1-GTF2A1Lc.1299G>T (p.Trp433Cys)
c.948-359G>T (n.948-359G>T)
c.3441+16818C>A (n.3441+16818C>A)
c.*43G>T (n.*43G>T)
c.1218G>T (p.Trp406Cys)
c.276+16818C>A (n.276+16818C>A)
c.*220+5726G>T (n.*220+5726G>T)
c.342G>T (p.Trp114Cys)
c.369G>T (p.Trp123Cys)
c.1224G>T (p.Trp408Cys)
c.1038G>T (p.Trp346Cys)
c.957G>T (p.Trp319Cys)
c.663G>T (p.Trp221Cys)
c.1044G>T (p.Trp348Cys)
 COSMIC
2g.48688498C>GCA346747549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1299G>C (p.Trp433Cys)
c.948-359G>C (n.948-359G>C)
c.3441+16818C>G (n.3441+16818C>G)
c.*43G>C (n.*43G>C)
c.1218G>C (p.Trp406Cys)
c.276+16818C>G (n.276+16818C>G)
c.*220+5726G>C (n.*220+5726G>C)
c.342G>C (p.Trp114Cys)
c.369G>C (p.Trp123Cys)
c.1224G>C (p.Trp408Cys)
c.1038G>C (p.Trp346Cys)
c.957G>C (p.Trp319Cys)
c.663G>C (p.Trp221Cys)
c.1044G>C (p.Trp348Cys)
2g.48688498C>TCA346747550GTF2A1L,LHCGR,STON1-GTF2A1Lc.1299G>A (p.Trp433Ter)
c.948-359G>A (n.948-359G>A)
c.3441+16818C>T (n.3441+16818C>T)
c.*43G>A (n.*43G>A)
c.1218G>A (p.Trp406Ter)
c.276+16818C>T (n.276+16818C>T)
c.*220+5726G>A (n.*220+5726G>A)
c.342G>A (p.Trp114Ter)
c.369G>A (p.Trp123Ter)
c.1224G>A (p.Trp408Ter)
c.1038G>A (p.Trp346Ter)
c.957G>A (p.Trp319Ter)
c.663G>A (p.Trp221Ter)
c.1044G>A (p.Trp348Ter)
2g.48688499C>ACA346747552GTF2A1L,LHCGR,STON1-GTF2A1Lc.1298G>T (p.Trp433Leu)
c.948-360G>T (n.948-360G>T)
c.3441+16819C>A (n.3441+16819C>A)
c.*42G>T (n.*42G>T)
c.1217G>T (p.Trp406Leu)
c.276+16819C>A (n.276+16819C>A)
c.*220+5725G>T (n.*220+5725G>T)
c.341G>T (p.Trp114Leu)
c.368G>T (p.Trp123Leu)
c.1223G>T (p.Trp408Leu)
c.1037G>T (p.Trp346Leu)
c.956G>T (p.Trp319Leu)
c.662G>T (p.Trp221Leu)
c.1043G>T (p.Trp348Leu)
2g.48688499C>GCA346747553GTF2A1L,LHCGR,STON1-GTF2A1Lc.1298G>C (p.Trp433Ser)
c.948-360G>C (n.948-360G>C)
c.3441+16819C>G (n.3441+16819C>G)
c.*42G>C (n.*42G>C)
c.1217G>C (p.Trp406Ser)
c.276+16819C>G (n.276+16819C>G)
c.*220+5725G>C (n.*220+5725G>C)
c.341G>C (p.Trp114Ser)
c.368G>C (p.Trp123Ser)
c.1223G>C (p.Trp408Ser)
c.1037G>C (p.Trp346Ser)
c.956G>C (p.Trp319Ser)
c.662G>C (p.Trp221Ser)
c.1043G>C (p.Trp348Ser)
2g.48688499C>TCA346747554GTF2A1L,LHCGR,STON1-GTF2A1Lc.1298G>A (p.Trp433Ter)
c.948-360G>A (n.948-360G>A)
c.3441+16819C>T (n.3441+16819C>T)
c.*42G>A (n.*42G>A)
c.1217G>A (p.Trp406Ter)
c.276+16819C>T (n.276+16819C>T)
c.*220+5725G>A (n.*220+5725G>A)
c.341G>A (p.Trp114Ter)
c.368G>A (p.Trp123Ter)
c.1223G>A (p.Trp408Ter)
c.1037G>A (p.Trp346Ter)
c.956G>A (p.Trp319Ter)
c.662G>A (p.Trp221Ter)
c.1043G>A (p.Trp348Ter)
2g.48688500A=CA1248601159GTF2A1L,LHCGR,STON1-GTF2A1Lc.1297T= (p.Trp433=)
c.948-361T= (n.948-361T=)
c.3441+16820A= (n.3441+16820A=)
c.*41T= (n.*41T=)
c.1216T= (p.Trp406=)
c.276+16820A= (n.276+16820A=)
c.*220+5724T= (n.*220+5724T=)
c.340T= (p.Trp114=)
c.367T= (p.Trp123=)
c.1222T= (p.Trp408=)
c.1036T= (p.Trp346=)
c.955T= (p.Trp319=)
c.661T= (p.Trp221=)
c.1042T= (p.Trp348=)
2g.48688500A>CCA346747555GTF2A1L,LHCGR,STON1-GTF2A1Lc.1297T>G (p.Trp433Gly)
c.948-361T>G (n.948-361T>G)
c.3441+16820A>C (n.3441+16820A>C)
c.*41T>G (n.*41T>G)
c.1216T>G (p.Trp406Gly)
c.276+16820A>C (n.276+16820A>C)
c.*220+5724T>G (n.*220+5724T>G)
c.340T>G (p.Trp114Gly)
c.367T>G (p.Trp123Gly)
c.1222T>G (p.Trp408Gly)
c.1036T>G (p.Trp346Gly)
c.955T>G (p.Trp319Gly)
c.661T>G (p.Trp221Gly)
c.1042T>G (p.Trp348Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.48688500A>GCA346747557GTF2A1L,LHCGR,STON1-GTF2A1Lc.1297T>C (p.Trp433Arg)
c.948-361T>C (n.948-361T>C)
c.3441+16820A>G (n.3441+16820A>G)
c.*41T>C (n.*41T>C)
c.1216T>C (p.Trp406Arg)
c.276+16820A>G (n.276+16820A>G)
c.*220+5724T>C (n.*220+5724T>C)
c.340T>C (p.Trp114Arg)
c.367T>C (p.Trp123Arg)
c.1222T>C (p.Trp408Arg)
c.1036T>C (p.Trp346Arg)
c.955T>C (p.Trp319Arg)
c.661T>C (p.Trp221Arg)
c.1042T>C (p.Trp348Arg)
2g.48688500A>TCA346747559GTF2A1L,LHCGR,STON1-GTF2A1Lc.1297T>A (p.Trp433Arg)
c.948-361T>A (n.948-361T>A)
c.3441+16820A>T (n.3441+16820A>T)
c.*41T>A (n.*41T>A)
c.1216T>A (p.Trp406Arg)
c.276+16820A>T (n.276+16820A>T)
c.*220+5724T>A (n.*220+5724T>A)
c.340T>A (p.Trp114Arg)
c.367T>A (p.Trp123Arg)
c.1222T>A (p.Trp408Arg)
c.1036T>A (p.Trp346Arg)
c.955T>A (p.Trp319Arg)
c.661T>A (p.Trp221Arg)
c.1042T>A (p.Trp348Arg)
2g.48688501G>ACA426125583GTF2A1L,LHCGR,STON1-GTF2A1Lc.1296C>T (p.Asp432=)
c.948-362C>T (n.948-362C>T)
c.3441+16821G>A (n.3441+16821G>A)
c.*40C>T (n.*40C>T)
c.1215C>T (p.Asp405=)
c.276+16821G>A (n.276+16821G>A)
c.*220+5723C>T (n.*220+5723C>T)
c.339C>T (p.Asp113=)
c.366C>T (p.Asp122=)
c.1221C>T (p.Asp407=)
c.1035C>T (p.Asp345=)
c.954C>T (p.Asp318=)
c.660C>T (p.Asp220=)
c.1041C>T (p.Asp347=)
2g.48688501G>CCA346747561GTF2A1L,LHCGR,STON1-GTF2A1Lc.1296C>G (p.Asp432Glu)
c.948-362C>G (n.948-362C>G)
c.3441+16821G>C (n.3441+16821G>C)
c.*40C>G (n.*40C>G)
c.1215C>G (p.Asp405Glu)
c.276+16821G>C (n.276+16821G>C)
c.*220+5723C>G (n.*220+5723C>G)
c.339C>G (p.Asp113Glu)
c.366C>G (p.Asp122Glu)
c.1221C>G (p.Asp407Glu)
c.1035C>G (p.Asp345Glu)
c.954C>G (p.Asp318Glu)
c.660C>G (p.Asp220Glu)
c.1041C>G (p.Asp347Glu)
 dbSNP gnomAD v4
2g.48688501G=CA1248601160GTF2A1L,LHCGR,STON1-GTF2A1Lc.1296C= (p.Asp432=)
c.948-362C= (n.948-362C=)
c.3441+16821G= (n.3441+16821G=)
c.*40C= (n.*40C=)
c.1215C= (p.Asp405=)
c.276+16821G= (n.276+16821G=)
c.*220+5723C= (n.*220+5723C=)
c.339C= (p.Asp113=)
c.366C= (p.Asp122=)
c.1221C= (p.Asp407=)
c.1035C= (p.Asp345=)
c.954C= (p.Asp318=)
c.660C= (p.Asp220=)
c.1041C= (p.Asp347=)
2g.48688501G>TCA346747562GTF2A1L,LHCGR,STON1-GTF2A1Lc.1296C>A (p.Asp432Glu)
c.948-362C>A (n.948-362C>A)
c.3441+16821G>T (n.3441+16821G>T)
c.*40C>A (n.*40C>A)
c.1215C>A (p.Asp405Glu)
c.276+16821G>T (n.276+16821G>T)
c.*220+5723C>A (n.*220+5723C>A)
c.339C>A (p.Asp113Glu)
c.366C>A (p.Asp122Glu)
c.1221C>A (p.Asp407Glu)
c.1035C>A (p.Asp345Glu)
c.954C>A (p.Asp318Glu)
c.660C>A (p.Asp220Glu)
c.1041C>A (p.Asp347Glu)
 dbSNP
2g.48688502T>ACA346747563GTF2A1L,LHCGR,STON1-GTF2A1Lc.1295A>T (p.Asp432Val)
c.948-363A>T (n.948-363A>T)
c.3441+16822T>A (n.3441+16822T>A)
c.*39A>T (n.*39A>T)
c.1214A>T (p.Asp405Val)
c.276+16822T>A (n.276+16822T>A)
c.*220+5722A>T (n.*220+5722A>T)
c.338A>T (p.Asp113Val)
c.365A>T (p.Asp122Val)
c.1220A>T (p.Asp407Val)
c.1034A>T (p.Asp345Val)
c.953A>T (p.Asp318Val)
c.659A>T (p.Asp220Val)
c.1040A>T (p.Asp347Val)
2g.48688502T>CCA346747565GTF2A1L,LHCGR,STON1-GTF2A1Lc.1295A>G (p.Asp432Gly)
c.948-363A>G (n.948-363A>G)
c.3441+16822T>C (n.3441+16822T>C)
c.*39A>G (n.*39A>G)
c.1214A>G (p.Asp405Gly)
c.276+16822T>C (n.276+16822T>C)
c.*220+5722A>G (n.*220+5722A>G)
c.338A>G (p.Asp113Gly)
c.365A>G (p.Asp122Gly)
c.1220A>G (p.Asp407Gly)
c.1034A>G (p.Asp345Gly)
c.953A>G (p.Asp318Gly)
c.659A>G (p.Asp220Gly)
c.1040A>G (p.Asp347Gly)
2g.48688502T>GCA346747564GTF2A1L,LHCGR,STON1-GTF2A1Lc.1295A>C (p.Asp432Ala)
c.948-363A>C (n.948-363A>C)
c.3441+16822T>G (n.3441+16822T>G)
c.*39A>C (n.*39A>C)
c.1214A>C (p.Asp405Ala)
c.276+16822T>G (n.276+16822T>G)
c.*220+5722A>C (n.*220+5722A>C)
c.338A>C (p.Asp113Ala)
c.365A>C (p.Asp122Ala)
c.1220A>C (p.Asp407Ala)
c.1034A>C (p.Asp345Ala)
c.953A>C (p.Asp318Ala)
c.659A>C (p.Asp220Ala)
c.1040A>C (p.Asp347Ala)
2g.48688503C>ACA346747566GTF2A1L,LHCGR,STON1-GTF2A1Lc.1294G>T (p.Asp432Tyr)
c.948-364G>T (n.948-364G>T)
c.3441+16823C>A (n.3441+16823C>A)
c.*38G>T (n.*38G>T)
c.1213G>T (p.Asp405Tyr)
c.276+16823C>A (n.276+16823C>A)
c.*220+5721G>T (n.*220+5721G>T)
c.337G>T (p.Asp113Tyr)
c.364G>T (p.Asp122Tyr)
c.1219G>T (p.Asp407Tyr)
c.1033G>T (p.Asp345Tyr)
c.952G>T (p.Asp318Tyr)
c.658G>T (p.Asp220Tyr)
c.1039G>T (p.Asp347Tyr)
2g.48688503C>GCA346747568GTF2A1L,LHCGR,STON1-GTF2A1Lc.1294G>C (p.Asp432His)
c.948-364G>C (n.948-364G>C)
c.3441+16823C>G (n.3441+16823C>G)
c.*38G>C (n.*38G>C)
c.1213G>C (p.Asp405His)
c.276+16823C>G (n.276+16823C>G)
c.*220+5721G>C (n.*220+5721G>C)
c.337G>C (p.Asp113His)
c.364G>C (p.Asp122His)
c.1219G>C (p.Asp407His)
c.1033G>C (p.Asp345His)
c.952G>C (p.Asp318His)
c.658G>C (p.Asp220His)
c.1039G>C (p.Asp347His)
2g.48688503C>TCA346747567GTF2A1L,LHCGR,STON1-GTF2A1Lc.1294G>A (p.Asp432Asn)
c.948-364G>A (n.948-364G>A)
c.3441+16823C>T (n.3441+16823C>T)
c.*38G>A (n.*38G>A)
c.1213G>A (p.Asp405Asn)
c.276+16823C>T (n.276+16823C>T)
c.*220+5721G>A (n.*220+5721G>A)
c.337G>A (p.Asp113Asn)
c.364G>A (p.Asp122Asn)
c.1219G>A (p.Asp407Asn)
c.1033G>A (p.Asp345Asn)
c.952G>A (p.Asp318Asn)
c.658G>A (p.Asp220Asn)
c.1039G>A (p.Asp347Asn)
2g.48688504T>ACA426125589GTF2A1L,LHCGR,STON1-GTF2A1Lc.1293A>T (p.Ile431=)
c.948-365A>T (n.948-365A>T)
c.3441+16824T>A (n.3441+16824T>A)
c.*37A>T (n.*37A>T)
c.1212A>T (p.Ile404=)
c.276+16824T>A (n.276+16824T>A)
c.*220+5720A>T (n.*220+5720A>T)
c.336A>T (p.Ile112=)
c.363A>T (p.Ile121=)
c.1218A>T (p.Ile406=)
c.1032A>T (p.Ile344=)
c.951A>T (p.Ile317=)
c.657A>T (p.Ile219=)
c.1038A>T (p.Ile346=)
2g.48688504T>CCA346747569GTF2A1L,LHCGR,STON1-GTF2A1Lc.1293A>G (p.Ile431Met)
c.948-365A>G (n.948-365A>G)
c.3441+16824T>C (n.3441+16824T>C)
c.*37A>G (n.*37A>G)
c.1212A>G (p.Ile404Met)
c.276+16824T>C (n.276+16824T>C)
c.*220+5720A>G (n.*220+5720A>G)
c.336A>G (p.Ile112Met)
c.363A>G (p.Ile121Met)
c.1218A>G (p.Ile406Met)
c.1032A>G (p.Ile344Met)
c.951A>G (p.Ile317Met)
c.657A>G (p.Ile219Met)
c.1038A>G (p.Ile346Met)
 dbSNP
2g.48688504T>GCA426125591GTF2A1L,LHCGR,STON1-GTF2A1Lc.1293A>C (p.Ile431=)
c.948-365A>C (n.948-365A>C)
c.3441+16824T>G (n.3441+16824T>G)
c.*37A>C (n.*37A>C)
c.1212A>C (p.Ile404=)
c.276+16824T>G (n.276+16824T>G)
c.*220+5720A>C (n.*220+5720A>C)
c.336A>C (p.Ile112=)
c.363A>C (p.Ile121=)
c.1218A>C (p.Ile406=)
c.1032A>C (p.Ile344=)
c.951A>C (p.Ile317=)
c.657A>C (p.Ile219=)
c.1038A>C (p.Ile346=)
 COSMIC
2g.48688504T=CA1248601161GTF2A1L,LHCGR,STON1-GTF2A1Lc.1293A= (p.Ile431=)
c.948-365A= (n.948-365A=)
c.3441+16824T= (n.3441+16824T=)
c.*37A= (n.*37A=)
c.1212A= (p.Ile404=)
c.276+16824T= (n.276+16824T=)
c.*220+5720A= (n.*220+5720A=)
c.336A= (p.Ile112=)
c.363A= (p.Ile121=)
c.1218A= (p.Ile406=)
c.1032A= (p.Ile344=)
c.951A= (p.Ile317=)
c.657A= (p.Ile219=)
c.1038A= (p.Ile346=)
2g.48688505A=CA1248601162GTF2A1L,LHCGR,STON1-GTF2A1Lc.1292T= (p.Ile431=)
c.948-366T= (n.948-366T=)
c.3441+16825A= (n.3441+16825A=)
c.*36T= (n.*36T=)
c.1211T= (p.Ile404=)
c.276+16825A= (n.276+16825A=)
c.*220+5719T= (n.*220+5719T=)
c.335T= (p.Ile112=)
c.362T= (p.Ile121=)
c.1217T= (p.Ile406=)
c.1031T= (p.Ile344=)
c.950T= (p.Ile317=)
c.656T= (p.Ile219=)
c.1037T= (p.Ile346=)
2g.48688505A>CCA346747570GTF2A1L,LHCGR,STON1-GTF2A1Lc.1292T>G (p.Ile431Arg)
c.948-366T>G (n.948-366T>G)
c.3441+16825A>C (n.3441+16825A>C)
c.*36T>G (n.*36T>G)
c.1211T>G (p.Ile404Arg)
c.276+16825A>C (n.276+16825A>C)
c.*220+5719T>G (n.*220+5719T>G)
c.335T>G (p.Ile112Arg)
c.362T>G (p.Ile121Arg)
c.1217T>G (p.Ile406Arg)
c.1031T>G (p.Ile344Arg)
c.950T>G (p.Ile317Arg)
c.656T>G (p.Ile219Arg)
c.1037T>G (p.Ile346Arg)
2g.48688505A>GCA1653049GTF2A1L,LHCGR,STON1-GTF2A1Lc.1292T>C (p.Ile431Thr)
c.948-366T>C (n.948-366T>C)
c.3441+16825A>G (n.3441+16825A>G)
c.*36T>C (n.*36T>C)
c.1211T>C (p.Ile404Thr)
c.276+16825A>G (n.276+16825A>G)
c.*220+5719T>C (n.*220+5719T>C)
c.335T>C (p.Ile112Thr)
c.362T>C (p.Ile121Thr)
c.1217T>C (p.Ile406Thr)
c.1031T>C (p.Ile344Thr)
c.950T>C (p.Ile317Thr)
c.656T>C (p.Ile219Thr)
c.1037T>C (p.Ile346Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688505A>TCA346747571GTF2A1L,LHCGR,STON1-GTF2A1Lc.1292T>A (p.Ile431Lys)
c.948-366T>A (n.948-366T>A)
c.3441+16825A>T (n.3441+16825A>T)
c.*36T>A (n.*36T>A)
c.1211T>A (p.Ile404Lys)
c.276+16825A>T (n.276+16825A>T)
c.*220+5719T>A (n.*220+5719T>A)
c.335T>A (p.Ile112Lys)
c.362T>A (p.Ile121Lys)
c.1217T>A (p.Ile406Lys)
c.1031T>A (p.Ile344Lys)
c.950T>A (p.Ile317Lys)
c.656T>A (p.Ile219Lys)
c.1037T>A (p.Ile346Lys)
2g.48688506T>ACA346747572GTF2A1L,LHCGR,STON1-GTF2A1Lc.1291A>T (p.Ile431Leu)
c.948-367A>T (n.948-367A>T)
c.3441+16826T>A (n.3441+16826T>A)
c.*35A>T (n.*35A>T)
c.1210A>T (p.Ile404Leu)
c.276+16826T>A (n.276+16826T>A)
c.*220+5718A>T (n.*220+5718A>T)
c.334A>T (p.Ile112Leu)
c.361A>T (p.Ile121Leu)
c.1216A>T (p.Ile406Leu)
c.1030A>T (p.Ile344Leu)
c.949A>T (p.Ile317Leu)
c.655A>T (p.Ile219Leu)
c.1036A>T (p.Ile346Leu)
2g.48688506T>CCA346747573GTF2A1L,LHCGR,STON1-GTF2A1Lc.1291A>G (p.Ile431Val)
c.948-367A>G (n.948-367A>G)
c.3441+16826T>C (n.3441+16826T>C)
c.*35A>G (n.*35A>G)
c.1210A>G (p.Ile404Val)
c.276+16826T>C (n.276+16826T>C)
c.*220+5718A>G (n.*220+5718A>G)
c.334A>G (p.Ile112Val)
c.361A>G (p.Ile121Val)
c.1216A>G (p.Ile406Val)
c.1030A>G (p.Ile344Val)
c.949A>G (p.Ile317Val)
c.655A>G (p.Ile219Val)
c.1036A>G (p.Ile346Val)
2g.48688506T>GCA346747574GTF2A1L,LHCGR,STON1-GTF2A1Lc.1291A>C (p.Ile431Leu)
c.948-367A>C (n.948-367A>C)
c.3441+16826T>G (n.3441+16826T>G)
c.*35A>C (n.*35A>C)
c.1210A>C (p.Ile404Leu)
c.276+16826T>G (n.276+16826T>G)
c.*220+5718A>C (n.*220+5718A>C)
c.334A>C (p.Ile112Leu)
c.361A>C (p.Ile121Leu)
c.1216A>C (p.Ile406Leu)
c.1030A>C (p.Ile344Leu)
c.949A>C (p.Ile317Leu)
c.655A>C (p.Ile219Leu)
c.1036A>C (p.Ile346Leu)
2g.48688507G>ACA426125600GTF2A1L,LHCGR,STON1-GTF2A1Lc.1290C>T (p.Ala430=)
c.948-368C>T (n.948-368C>T)
c.3441+16827G>A (n.3441+16827G>A)
c.*34C>T (n.*34C>T)
c.1209C>T (p.Ala403=)
c.276+16827G>A (n.276+16827G>A)
c.*220+5717C>T (n.*220+5717C>T)
c.333C>T (p.Ala111=)
c.360C>T (p.Ala120=)
c.1215C>T (p.Ala405=)
c.1029C>T (p.Ala343=)
c.948C>T (p.Ala316=)
c.654C>T (p.Ala218=)
c.1035C>T (p.Ala345=)
2g.48688507G>CCA426125601GTF2A1L,LHCGR,STON1-GTF2A1Lc.1290C>G (p.Ala430=)
c.948-368C>G (n.948-368C>G)
c.3441+16827G>C (n.3441+16827G>C)
c.*34C>G (n.*34C>G)
c.1209C>G (p.Ala403=)
c.276+16827G>C (n.276+16827G>C)
c.*220+5717C>G (n.*220+5717C>G)
c.333C>G (p.Ala111=)
c.360C>G (p.Ala120=)
c.1215C>G (p.Ala405=)
c.1029C>G (p.Ala343=)
c.948C>G (p.Ala316=)
c.654C>G (p.Ala218=)
c.1035C>G (p.Ala345=)
2g.48688507G>TCA426125602GTF2A1L,LHCGR,STON1-GTF2A1Lc.1290C>A (p.Ala430=)
c.948-368C>A (n.948-368C>A)
c.3441+16827G>T (n.3441+16827G>T)
c.*34C>A (n.*34C>A)
c.1209C>A (p.Ala403=)
c.276+16827G>T (n.276+16827G>T)
c.*220+5717C>A (n.*220+5717C>A)
c.333C>A (p.Ala111=)
c.360C>A (p.Ala120=)
c.1215C>A (p.Ala405=)
c.1029C>A (p.Ala343=)
c.948C>A (p.Ala316=)
c.654C>A (p.Ala218=)
c.1035C>A (p.Ala345=)
2g.48688508G>ACA346747575GTF2A1L,LHCGR,STON1-GTF2A1Lc.1289C>T (p.Ala430Val)
c.948-369C>T (n.948-369C>T)
c.3441+16828G>A (n.3441+16828G>A)
c.*33C>T (n.*33C>T)
c.1208C>T (p.Ala403Val)
c.276+16828G>A (n.276+16828G>A)
c.*220+5716C>T (n.*220+5716C>T)
c.332C>T (p.Ala111Val)
c.359C>T (p.Ala120Val)
c.1214C>T (p.Ala405Val)
c.1028C>T (p.Ala343Val)
c.947C>T (p.Ala316Val)
c.653C>T (p.Ala218Val)
c.1034C>T (p.Ala345Val)
 gnomAD v4
2g.48688508G>CCA346747576GTF2A1L,LHCGR,STON1-GTF2A1Lc.1289C>G (p.Ala430Gly)
c.948-369C>G (n.948-369C>G)
c.3441+16828G>C (n.3441+16828G>C)
c.*33C>G (n.*33C>G)
c.1208C>G (p.Ala403Gly)
c.276+16828G>C (n.276+16828G>C)
c.*220+5716C>G (n.*220+5716C>G)
c.332C>G (p.Ala111Gly)
c.359C>G (p.Ala120Gly)
c.1214C>G (p.Ala405Gly)
c.1028C>G (p.Ala343Gly)
c.947C>G (p.Ala316Gly)
c.653C>G (p.Ala218Gly)
c.1034C>G (p.Ala345Gly)
2g.48688508G>TCA346747577GTF2A1L,LHCGR,STON1-GTF2A1Lc.1289C>A (p.Ala430Asp)
c.948-369C>A (n.948-369C>A)
c.3441+16828G>T (n.3441+16828G>T)
c.*33C>A (n.*33C>A)
c.1208C>A (p.Ala403Asp)
c.276+16828G>T (n.276+16828G>T)
c.*220+5716C>A (n.*220+5716C>A)
c.332C>A (p.Ala111Asp)
c.359C>A (p.Ala120Asp)
c.1214C>A (p.Ala405Asp)
c.1028C>A (p.Ala343Asp)
c.947C>A (p.Ala316Asp)
c.653C>A (p.Ala218Asp)
c.1034C>A (p.Ala345Asp)
2g.48688509C>ACA346747578GTF2A1L,LHCGR,STON1-GTF2A1Lc.1288G>T (p.Ala430Ser)
c.948-370G>T (n.948-370G>T)
c.3441+16829C>A (n.3441+16829C>A)
c.*32G>T (n.*32G>T)
c.1207G>T (p.Ala403Ser)
c.276+16829C>A (n.276+16829C>A)
c.*220+5715G>T (n.*220+5715G>T)
c.331G>T (p.Ala111Ser)
c.358G>T (p.Ala120Ser)
c.1213G>T (p.Ala405Ser)
c.1027G>T (p.Ala343Ser)
c.946G>T (p.Ala316Ser)
c.652G>T (p.Ala218Ser)
c.1033G>T (p.Ala345Ser)
2g.48688509C>GCA346747579GTF2A1L,LHCGR,STON1-GTF2A1Lc.1288G>C (p.Ala430Pro)
c.948-370G>C (n.948-370G>C)
c.3441+16829C>G (n.3441+16829C>G)
c.*32G>C (n.*32G>C)
c.1207G>C (p.Ala403Pro)
c.276+16829C>G (n.276+16829C>G)
c.*220+5715G>C (n.*220+5715G>C)
c.331G>C (p.Ala111Pro)
c.358G>C (p.Ala120Pro)
c.1213G>C (p.Ala405Pro)
c.1027G>C (p.Ala343Pro)
c.946G>C (p.Ala316Pro)
c.652G>C (p.Ala218Pro)
c.1033G>C (p.Ala345Pro)
2g.48688509C>TCA346747580GTF2A1L,LHCGR,STON1-GTF2A1Lc.1288G>A (p.Ala430Thr)
c.948-370G>A (n.948-370G>A)
c.3441+16829C>T (n.3441+16829C>T)
c.*32G>A (n.*32G>A)
c.1207G>A (p.Ala403Thr)
c.276+16829C>T (n.276+16829C>T)
c.*220+5715G>A (n.*220+5715G>A)
c.331G>A (p.Ala111Thr)
c.358G>A (p.Ala120Thr)
c.1213G>A (p.Ala405Thr)
c.1027G>A (p.Ala343Thr)
c.946G>A (p.Ala316Thr)
c.652G>A (p.Ala218Thr)
c.1033G>A (p.Ala345Thr)
2g.48688510A=CA1248601163GTF2A1L,LHCGR,STON1-GTF2A1Lc.1287T= (p.His429=)
c.948-371T= (n.948-371T=)
c.3441+16830A= (n.3441+16830A=)
c.*31T= (n.*31T=)
c.1206T= (p.His402=)
c.276+16830A= (n.276+16830A=)
c.*220+5714T= (n.*220+5714T=)
c.330T= (p.His110=)
c.357T= (p.His119=)
c.1212T= (p.His404=)
c.1026T= (p.His342=)
c.945T= (p.His315=)
c.651T= (p.His217=)
c.1032T= (p.His344=)
2g.48688510A>CCA346747581GTF2A1L,LHCGR,STON1-GTF2A1Lc.1287T>G (p.His429Gln)
c.948-371T>G (n.948-371T>G)
c.3441+16830A>C (n.3441+16830A>C)
c.*31T>G (n.*31T>G)
c.1206T>G (p.His402Gln)
c.276+16830A>C (n.276+16830A>C)
c.*220+5714T>G (n.*220+5714T>G)
c.330T>G (p.His110Gln)
c.357T>G (p.His119Gln)
c.1212T>G (p.His404Gln)
c.1026T>G (p.His342Gln)
c.945T>G (p.His315Gln)
c.651T>G (p.His217Gln)
c.1032T>G (p.His344Gln)
2g.48688510A>GCA426125612GTF2A1L,LHCGR,STON1-GTF2A1Lc.1287T>C (p.His429=)
c.948-371T>C (n.948-371T>C)
c.3441+16830A>G (n.3441+16830A>G)
c.*31T>C (n.*31T>C)
c.1206T>C (p.His402=)
c.276+16830A>G (n.276+16830A>G)
c.*220+5714T>C (n.*220+5714T>C)
c.330T>C (p.His110=)
c.357T>C (p.His119=)
c.1212T>C (p.His404=)
c.1026T>C (p.His342=)
c.945T>C (p.His315=)
c.651T>C (p.His217=)
c.1032T>C (p.His344=)
2g.48688510A>TCA346747582GTF2A1L,LHCGR,STON1-GTF2A1Lc.1287T>A (p.His429Gln)
c.948-371T>A (n.948-371T>A)
c.3441+16830A>T (n.3441+16830A>T)
c.*31T>A (n.*31T>A)
c.1206T>A (p.His402Gln)
c.276+16830A>T (n.276+16830A>T)
c.*220+5714T>A (n.*220+5714T>A)
c.330T>A (p.His110Gln)
c.357T>A (p.His119Gln)
c.1212T>A (p.His404Gln)
c.1026T>A (p.His342Gln)
c.945T>A (p.His315Gln)
c.651T>A (p.His217Gln)
c.1032T>A (p.His344Gln)
 dbSNP
2g.48688511T>ACA346747585GTF2A1L,LHCGR,STON1-GTF2A1Lc.1286A>T (p.His429Leu)
c.948-372A>T (n.948-372A>T)
c.3441+16831T>A (n.3441+16831T>A)
c.*30A>T (n.*30A>T)
c.1205A>T (p.His402Leu)
c.276+16831T>A (n.276+16831T>A)
c.*220+5713A>T (n.*220+5713A>T)
c.329A>T (p.His110Leu)
c.356A>T (p.His119Leu)
c.1211A>T (p.His404Leu)
c.1025A>T (p.His342Leu)
c.944A>T (p.His315Leu)
c.650A>T (p.His217Leu)
c.1031A>T (p.His344Leu)
2g.48688511T>CCA346747584GTF2A1L,LHCGR,STON1-GTF2A1Lc.1286A>G (p.His429Arg)
c.948-372A>G (n.948-372A>G)
c.3441+16831T>C (n.3441+16831T>C)
c.*30A>G (n.*30A>G)
c.1205A>G (p.His402Arg)
c.276+16831T>C (n.276+16831T>C)
c.*220+5713A>G (n.*220+5713A>G)
c.329A>G (p.His110Arg)
c.356A>G (p.His119Arg)
c.1211A>G (p.His404Arg)
c.1025A>G (p.His342Arg)
c.944A>G (p.His315Arg)
c.650A>G (p.His217Arg)
c.1031A>G (p.His344Arg)
 dbSNP
2g.48688511T>GCA346747583GTF2A1L,LHCGR,STON1-GTF2A1Lc.1286A>C (p.His429Pro)
c.948-372A>C (n.948-372A>C)
c.3441+16831T>G (n.3441+16831T>G)
c.*30A>C (n.*30A>C)
c.1205A>C (p.His402Pro)
c.276+16831T>G (n.276+16831T>G)
c.*220+5713A>C (n.*220+5713A>C)
c.329A>C (p.His110Pro)
c.356A>C (p.His119Pro)
c.1211A>C (p.His404Pro)
c.1025A>C (p.His342Pro)
c.944A>C (p.His315Pro)
c.650A>C (p.His217Pro)
c.1031A>C (p.His344Pro)
2g.48688511T=CA1248601164GTF2A1L,LHCGR,STON1-GTF2A1Lc.1286A= (p.His429=)
c.948-372A= (n.948-372A=)
c.3441+16831T= (n.3441+16831T=)
c.*30A= (n.*30A=)
c.1205A= (p.His402=)
c.276+16831T= (n.276+16831T=)
c.*220+5713A= (n.*220+5713A=)
c.329A= (p.His110=)
c.356A= (p.His119=)
c.1211A= (p.His404=)
c.1025A= (p.His342=)
c.944A= (p.His315=)
c.650A= (p.His217=)
c.1031A= (p.His344=)
2g.48688512G>ACA346747586GTF2A1L,LHCGR,STON1-GTF2A1Lc.1285C>T (p.His429Tyr)
c.948-373C>T (n.948-373C>T)
c.3441+16832G>A (n.3441+16832G>A)
c.*29C>T (n.*29C>T)
c.1204C>T (p.His402Tyr)
c.276+16832G>A (n.276+16832G>A)
c.*220+5712C>T (n.*220+5712C>T)
c.328C>T (p.His110Tyr)
c.355C>T (p.His119Tyr)
c.1210C>T (p.His404Tyr)
c.1024C>T (p.His342Tyr)
c.943C>T (p.His315Tyr)
c.649C>T (p.His217Tyr)
c.1030C>T (p.His344Tyr)
2g.48688512G>CCA346747587GTF2A1L,LHCGR,STON1-GTF2A1Lc.1285C>G (p.His429Asp)
c.948-373C>G (n.948-373C>G)
c.3441+16832G>C (n.3441+16832G>C)
c.*29C>G (n.*29C>G)
c.1204C>G (p.His402Asp)
c.276+16832G>C (n.276+16832G>C)
c.*220+5712C>G (n.*220+5712C>G)
c.328C>G (p.His110Asp)
c.355C>G (p.His119Asp)
c.1210C>G (p.His404Asp)
c.1024C>G (p.His342Asp)
c.943C>G (p.His315Asp)
c.649C>G (p.His217Asp)
c.1030C>G (p.His344Asp)
2g.48688512G>TCA346747588GTF2A1L,LHCGR,STON1-GTF2A1Lc.1285C>A (p.His429Asn)
c.948-373C>A (n.948-373C>A)
c.3441+16832G>T (n.3441+16832G>T)
c.*29C>A (n.*29C>A)
c.1204C>A (p.His402Asn)
c.276+16832G>T (n.276+16832G>T)
c.*220+5712C>A (n.*220+5712C>A)
c.328C>A (p.His110Asn)
c.355C>A (p.His119Asn)
c.1210C>A (p.His404Asn)
c.1024C>A (p.His342Asn)
c.943C>A (p.His315Asn)
c.649C>A (p.His217Asn)
c.1030C>A (p.His344Asn)
 gnomAD v4
2g.48688513G>ACA426125619GTF2A1L,LHCGR,STON1-GTF2A1Lc.1284C>T (p.Asn428=)
c.948-374C>T (n.948-374C>T)
c.3441+16833G>A (n.3441+16833G>A)
c.*28C>T (n.*28C>T)
c.1203C>T (p.Asn401=)
c.276+16833G>A (n.276+16833G>A)
c.*220+5711C>T (n.*220+5711C>T)
c.327C>T (p.Asn109=)
c.354C>T (p.Asn118=)
c.1209C>T (p.Asn403=)
c.1023C>T (p.Asn341=)
c.942C>T (p.Asn314=)
c.648C>T (p.Asn216=)
c.1029C>T (p.Asn343=)
 gnomAD v4
2g.48688513G>CCA346747589GTF2A1L,LHCGR,STON1-GTF2A1Lc.1284C>G (p.Asn428Lys)
c.948-374C>G (n.948-374C>G)
c.3441+16833G>C (n.3441+16833G>C)
c.*28C>G (n.*28C>G)
c.1203C>G (p.Asn401Lys)
c.276+16833G>C (n.276+16833G>C)
c.*220+5711C>G (n.*220+5711C>G)
c.327C>G (p.Asn109Lys)
c.354C>G (p.Asn118Lys)
c.1209C>G (p.Asn403Lys)
c.1023C>G (p.Asn341Lys)
c.942C>G (p.Asn314Lys)
c.648C>G (p.Asn216Lys)
c.1029C>G (p.Asn343Lys)
2g.48688513G=CA1248601165GTF2A1L,LHCGR,STON1-GTF2A1Lc.1284C= (p.Asn428=)
c.948-374C= (n.948-374C=)
c.3441+16833G= (n.3441+16833G=)
c.*28C= (n.*28C=)
c.1203C= (p.Asn401=)
c.276+16833G= (n.276+16833G=)
c.*220+5711C= (n.*220+5711C=)
c.327C= (p.Asn109=)
c.354C= (p.Asn118=)
c.1209C= (p.Asn403=)
c.1023C= (p.Asn341=)
c.942C= (p.Asn314=)
c.648C= (p.Asn216=)
c.1029C= (p.Asn343=)
2g.48688513G>TCA1653050GTF2A1L,LHCGR,STON1-GTF2A1Lc.1284C>A (p.Asn428Lys)
c.948-374C>A (n.948-374C>A)
c.3441+16833G>T (n.3441+16833G>T)
c.*28C>A (n.*28C>A)
c.1203C>A (p.Asn401Lys)
c.276+16833G>T (n.276+16833G>T)
c.*220+5711C>A (n.*220+5711C>A)
c.327C>A (p.Asn109Lys)
c.354C>A (p.Asn118Lys)
c.1209C>A (p.Asn403Lys)
c.1023C>A (p.Asn341Lys)
c.942C>A (p.Asn314Lys)
c.648C>A (p.Asn216Lys)
c.1029C>A (p.Asn343Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688514T>ACA346747590GTF2A1L,LHCGR,STON1-GTF2A1Lc.1283A>T (p.Asn428Ile)
c.948-375A>T (n.948-375A>T)
c.3441+16834T>A (n.3441+16834T>A)
c.*27A>T (n.*27A>T)
c.1202A>T (p.Asn401Ile)
c.276+16834T>A (n.276+16834T>A)
c.*220+5710A>T (n.*220+5710A>T)
c.326A>T (p.Asn109Ile)
c.353A>T (p.Asn118Ile)
c.1208A>T (p.Asn403Ile)
c.1022A>T (p.Asn341Ile)
c.941A>T (p.Asn314Ile)
c.647A>T (p.Asn216Ile)
c.1028A>T (p.Asn343Ile)
2g.48688514T>CCA346747591GTF2A1L,LHCGR,STON1-GTF2A1Lc.1283A>G (p.Asn428Ser)
c.948-375A>G (n.948-375A>G)
c.3441+16834T>C (n.3441+16834T>C)
c.*27A>G (n.*27A>G)
c.1202A>G (p.Asn401Ser)
c.276+16834T>C (n.276+16834T>C)
c.*220+5710A>G (n.*220+5710A>G)
c.326A>G (p.Asn109Ser)
c.353A>G (p.Asn118Ser)
c.1208A>G (p.Asn403Ser)
c.1022A>G (p.Asn341Ser)
c.941A>G (p.Asn314Ser)
c.647A>G (p.Asn216Ser)
c.1028A>G (p.Asn343Ser)
2g.48688514T>GCA346747592GTF2A1L,LHCGR,STON1-GTF2A1Lc.1283A>C (p.Asn428Thr)
c.948-375A>C (n.948-375A>C)
c.3441+16834T>G (n.3441+16834T>G)
c.*27A>C (n.*27A>C)
c.1202A>C (p.Asn401Thr)
c.276+16834T>G (n.276+16834T>G)
c.*220+5710A>C (n.*220+5710A>C)
c.326A>C (p.Asn109Thr)
c.353A>C (p.Asn118Thr)
c.1208A>C (p.Asn403Thr)
c.1022A>C (p.Asn341Thr)
c.941A>C (p.Asn314Thr)
c.647A>C (p.Asn216Thr)
c.1028A>C (p.Asn343Thr)
2g.48688515T>ACA1653051GTF2A1L,LHCGR,STON1-GTF2A1Lc.1282A>T (p.Asn428Tyr)
c.948-376A>T (n.948-376A>T)
c.3441+16835T>A (n.3441+16835T>A)
c.*26A>T (n.*26A>T)
c.1201A>T (p.Asn401Tyr)
c.276+16835T>A (n.276+16835T>A)
c.*220+5709A>T (n.*220+5709A>T)
c.325A>T (p.Asn109Tyr)
c.352A>T (p.Asn118Tyr)
c.1207A>T (p.Asn403Tyr)
c.1021A>T (p.Asn341Tyr)
c.940A>T (p.Asn314Tyr)
c.646A>T (p.Asn216Tyr)
c.1027A>T (p.Asn343Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688515T>CCA346748293GTF2A1L,LHCGR,STON1-GTF2A1Lc.1282A>G (p.Asn428Asp)
c.948-376A>G (n.948-376A>G)
c.3441+16835T>C (n.3441+16835T>C)
c.*26A>G (n.*26A>G)
c.1201A>G (p.Asn401Asp)
c.276+16835T>C (n.276+16835T>C)
c.*220+5709A>G (n.*220+5709A>G)
c.325A>G (p.Asn109Asp)
c.352A>G (p.Asn118Asp)
c.1207A>G (p.Asn403Asp)
c.1021A>G (p.Asn341Asp)
c.940A>G (p.Asn314Asp)
c.646A>G (p.Asn216Asp)
c.1027A>G (p.Asn343Asp)
2g.48688515T>GCA346748294GTF2A1L,LHCGR,STON1-GTF2A1Lc.1282A>C (p.Asn428His)
c.948-376A>C (n.948-376A>C)
c.3441+16835T>G (n.3441+16835T>G)
c.*26A>C (n.*26A>C)
c.1201A>C (p.Asn401His)
c.276+16835T>G (n.276+16835T>G)
c.*220+5709A>C (n.*220+5709A>C)
c.325A>C (p.Asn109His)
c.352A>C (p.Asn118His)
c.1207A>C (p.Asn403His)
c.1021A>C (p.Asn341His)
c.940A>C (p.Asn314His)
c.646A>C (p.Asn216His)
c.1027A>C (p.Asn343His)
2g.48688515T=CA1248601166GTF2A1L,LHCGR,STON1-GTF2A1Lc.1282A= (p.Asn428=)
c.948-376A= (n.948-376A=)
c.3441+16835T= (n.3441+16835T=)
c.*26A= (n.*26A=)
c.1201A= (p.Asn401=)
c.276+16835T= (n.276+16835T=)
c.*220+5709A= (n.*220+5709A=)
c.325A= (p.Asn109=)
c.352A= (p.Asn118=)
c.1207A= (p.Asn403=)
c.1021A= (p.Asn341=)
c.940A= (p.Asn314=)
c.646A= (p.Asn216=)
c.1027A= (p.Asn343=)
2g.48688516A>CCA346748302GTF2A1L,LHCGR,STON1-GTF2A1Lc.1281T>G (p.Tyr427Ter)
c.948-377T>G (n.948-377T>G)
c.3441+16836A>C (n.3441+16836A>C)
c.*25T>G (n.*25T>G)
c.1200T>G (p.Tyr400Ter)
c.276+16836A>C (n.276+16836A>C)
c.*220+5708T>G (n.*220+5708T>G)
c.324T>G (p.Tyr108Ter)
c.351T>G (p.Tyr117Ter)
c.1206T>G (p.Tyr402Ter)
c.1020T>G (p.Tyr340Ter)
c.939T>G (p.Tyr313Ter)
c.645T>G (p.Tyr215Ter)
c.1026T>G (p.Tyr342Ter)
2g.48688516A>GCA426124544GTF2A1L,LHCGR,STON1-GTF2A1Lc.1281T>C (p.Tyr427=)
c.948-377T>C (n.948-377T>C)
c.3441+16836A>G (n.3441+16836A>G)
c.*25T>C (n.*25T>C)
c.1200T>C (p.Tyr400=)
c.276+16836A>G (n.276+16836A>G)
c.*220+5708T>C (n.*220+5708T>C)
c.324T>C (p.Tyr108=)
c.351T>C (p.Tyr117=)
c.1206T>C (p.Tyr402=)
c.1020T>C (p.Tyr340=)
c.939T>C (p.Tyr313=)
c.645T>C (p.Tyr215=)
c.1026T>C (p.Tyr342=)
 gnomAD v4 COSMIC
2g.48688516A>TCA346748304GTF2A1L,LHCGR,STON1-GTF2A1Lc.1281T>A (p.Tyr427Ter)
c.948-377T>A (n.948-377T>A)
c.3441+16836A>T (n.3441+16836A>T)
c.*25T>A (n.*25T>A)
c.1200T>A (p.Tyr400Ter)
c.276+16836A>T (n.276+16836A>T)
c.*220+5708T>A (n.*220+5708T>A)
c.324T>A (p.Tyr108Ter)
c.351T>A (p.Tyr117Ter)
c.1206T>A (p.Tyr402Ter)
c.1020T>A (p.Tyr340Ter)
c.939T>A (p.Tyr313Ter)
c.645T>A (p.Tyr215Ter)
c.1026T>A (p.Tyr342Ter)
 dbSNP COSMIC
2g.48688517T>ACA346748308GTF2A1L,LHCGR,STON1-GTF2A1Lc.1280A>T (p.Tyr427Phe)
c.948-378A>T (n.948-378A>T)
c.3441+16837T>A (n.3441+16837T>A)
c.*24A>T (n.*24A>T)
c.1199A>T (p.Tyr400Phe)
c.276+16837T>A (n.276+16837T>A)
c.*220+5707A>T (n.*220+5707A>T)
c.323A>T (p.Tyr108Phe)
c.350A>T (p.Tyr117Phe)
c.1205A>T (p.Tyr402Phe)
c.1019A>T (p.Tyr340Phe)
c.938A>T (p.Tyr313Phe)
c.644A>T (p.Tyr215Phe)
c.1025A>T (p.Tyr342Phe)
2g.48688517T>CCA346748307GTF2A1L,LHCGR,STON1-GTF2A1Lc.1280A>G (p.Tyr427Cys)
c.948-378A>G (n.948-378A>G)
c.3441+16837T>C (n.3441+16837T>C)
c.*24A>G (n.*24A>G)
c.1199A>G (p.Tyr400Cys)
c.276+16837T>C (n.276+16837T>C)
c.*220+5707A>G (n.*220+5707A>G)
c.323A>G (p.Tyr108Cys)
c.350A>G (p.Tyr117Cys)
c.1205A>G (p.Tyr402Cys)
c.1019A>G (p.Tyr340Cys)
c.938A>G (p.Tyr313Cys)
c.644A>G (p.Tyr215Cys)
c.1025A>G (p.Tyr342Cys)
 dbSNP gnomAD v4
2g.48688517T>GCA346748306GTF2A1L,LHCGR,STON1-GTF2A1Lc.1280A>C (p.Tyr427Ser)
c.948-378A>C (n.948-378A>C)
c.3441+16837T>G (n.3441+16837T>G)
c.*24A>C (n.*24A>C)
c.1199A>C (p.Tyr400Ser)
c.276+16837T>G (n.276+16837T>G)
c.*220+5707A>C (n.*220+5707A>C)
c.323A>C (p.Tyr108Ser)
c.350A>C (p.Tyr117Ser)
c.1205A>C (p.Tyr402Ser)
c.1019A>C (p.Tyr340Ser)
c.938A>C (p.Tyr313Ser)
c.644A>C (p.Tyr215Ser)
c.1025A>C (p.Tyr342Ser)
2g.48688517T=CA1248601167GTF2A1L,LHCGR,STON1-GTF2A1Lc.1280A= (p.Tyr427=)
c.948-378A= (n.948-378A=)
c.3441+16837T= (n.3441+16837T=)
c.*24A= (n.*24A=)
c.1199A= (p.Tyr400=)
c.276+16837T= (n.276+16837T=)
c.*220+5707A= (n.*220+5707A=)
c.323A= (p.Tyr108=)
c.350A= (p.Tyr117=)
c.1205A= (p.Tyr402=)
c.1019A= (p.Tyr340=)
c.938A= (p.Tyr313=)
c.644A= (p.Tyr215=)
c.1025A= (p.Tyr342=)
2g.48688518A>CCA346748311GTF2A1L,LHCGR,STON1-GTF2A1Lc.1279T>G (p.Tyr427Asp)
c.948-379T>G (n.948-379T>G)
c.3441+16838A>C (n.3441+16838A>C)
c.*23T>G (n.*23T>G)
c.1198T>G (p.Tyr400Asp)
c.276+16838A>C (n.276+16838A>C)
c.*220+5706T>G (n.*220+5706T>G)
c.322T>G (p.Tyr108Asp)
c.349T>G (p.Tyr117Asp)
c.1204T>G (p.Tyr402Asp)
c.1018T>G (p.Tyr340Asp)
c.937T>G (p.Tyr313Asp)
c.643T>G (p.Tyr215Asp)
c.1024T>G (p.Tyr342Asp)
2g.48688518A>GCA346748309GTF2A1L,LHCGR,STON1-GTF2A1Lc.1279T>C (p.Tyr427His)
c.948-379T>C (n.948-379T>C)
c.3441+16838A>G (n.3441+16838A>G)
c.*23T>C (n.*23T>C)
c.1198T>C (p.Tyr400His)
c.276+16838A>G (n.276+16838A>G)
c.*220+5706T>C (n.*220+5706T>C)
c.322T>C (p.Tyr108His)
c.349T>C (p.Tyr117His)
c.1204T>C (p.Tyr402His)
c.1018T>C (p.Tyr340His)
c.937T>C (p.Tyr313His)
c.643T>C (p.Tyr215His)
c.1024T>C (p.Tyr342His)
2g.48688518A>TCA346748310GTF2A1L,LHCGR,STON1-GTF2A1Lc.1279T>A (p.Tyr427Asn)
c.948-379T>A (n.948-379T>A)
c.3441+16838A>T (n.3441+16838A>T)
c.*23T>A (n.*23T>A)
c.1198T>A (p.Tyr400Asn)
c.276+16838A>T (n.276+16838A>T)
c.*220+5706T>A (n.*220+5706T>A)
c.322T>A (p.Tyr108Asn)
c.349T>A (p.Tyr117Asn)
c.1204T>A (p.Tyr402Asn)
c.1018T>A (p.Tyr340Asn)
c.937T>A (p.Tyr313Asn)
c.643T>A (p.Tyr215Asn)
c.1024T>A (p.Tyr342Asn)
2g.48688519G>ACA426124545GTF2A1L,LHCGR,STON1-GTF2A1Lc.1278C>T (p.Tyr426=)
c.948-380C>T (n.948-380C>T)
c.3441+16839G>A (n.3441+16839G>A)
c.*22C>T (n.*22C>T)
c.1197C>T (p.Tyr399=)
c.276+16839G>A (n.276+16839G>A)
c.*220+5705C>T (n.*220+5705C>T)
c.321C>T (p.Tyr107=)
c.348C>T (p.Tyr116=)
c.1203C>T (p.Tyr401=)
c.1017C>T (p.Tyr339=)
c.936C>T (p.Tyr312=)
c.642C>T (p.Tyr214=)
c.1023C>T (p.Tyr341=)
 gnomAD v4
2g.48688519G>CCA346748312GTF2A1L,LHCGR,STON1-GTF2A1Lc.1278C>G (p.Tyr426Ter)
c.948-380C>G (n.948-380C>G)
c.3441+16839G>C (n.3441+16839G>C)
c.*22C>G (n.*22C>G)
c.1197C>G (p.Tyr399Ter)
c.276+16839G>C (n.276+16839G>C)
c.*220+5705C>G (n.*220+5705C>G)
c.321C>G (p.Tyr107Ter)
c.348C>G (p.Tyr116Ter)
c.1203C>G (p.Tyr401Ter)
c.1017C>G (p.Tyr339Ter)
c.936C>G (p.Tyr312Ter)
c.642C>G (p.Tyr214Ter)
c.1023C>G (p.Tyr341Ter)
2g.48688519G>TCA346748314GTF2A1L,LHCGR,STON1-GTF2A1Lc.1278C>A (p.Tyr426Ter)
c.948-380C>A (n.948-380C>A)
c.3441+16839G>T (n.3441+16839G>T)
c.*22C>A (n.*22C>A)
c.1197C>A (p.Tyr399Ter)
c.276+16839G>T (n.276+16839G>T)
c.*220+5705C>A (n.*220+5705C>A)
c.321C>A (p.Tyr107Ter)
c.348C>A (p.Tyr116Ter)
c.1203C>A (p.Tyr401Ter)
c.1017C>A (p.Tyr339Ter)
c.936C>A (p.Tyr312Ter)
c.642C>A (p.Tyr214Ter)
c.1023C>A (p.Tyr341Ter)
2g.48688520T>ACA346748316GTF2A1L,LHCGR,STON1-GTF2A1Lc.1277A>T (p.Tyr426Phe)
c.948-381A>T (n.948-381A>T)
c.3441+16840T>A (n.3441+16840T>A)
c.*21A>T (n.*21A>T)
c.1196A>T (p.Tyr399Phe)
c.276+16840T>A (n.276+16840T>A)
c.*220+5704A>T (n.*220+5704A>T)
c.320A>T (p.Tyr107Phe)
c.347A>T (p.Tyr116Phe)
c.1202A>T (p.Tyr401Phe)
c.1016A>T (p.Tyr339Phe)
c.935A>T (p.Tyr312Phe)
c.641A>T (p.Tyr214Phe)
c.1022A>T (p.Tyr341Phe)
2g.48688520T>CCA346748317GTF2A1L,LHCGR,STON1-GTF2A1Lc.1277A>G (p.Tyr426Cys)
c.948-381A>G (n.948-381A>G)
c.3441+16840T>C (n.3441+16840T>C)
c.*21A>G (n.*21A>G)
c.1196A>G (p.Tyr399Cys)
c.276+16840T>C (n.276+16840T>C)
c.*220+5704A>G (n.*220+5704A>G)
c.320A>G (p.Tyr107Cys)
c.347A>G (p.Tyr116Cys)
c.1202A>G (p.Tyr401Cys)
c.1016A>G (p.Tyr339Cys)
c.935A>G (p.Tyr312Cys)
c.641A>G (p.Tyr214Cys)
c.1022A>G (p.Tyr341Cys)
2g.48688520T>GCA346748319GTF2A1L,LHCGR,STON1-GTF2A1Lc.1277A>C (p.Tyr426Ser)
c.948-381A>C (n.948-381A>C)
c.3441+16840T>G (n.3441+16840T>G)
c.*21A>C (n.*21A>C)
c.1196A>C (p.Tyr399Ser)
c.276+16840T>G (n.276+16840T>G)
c.*220+5704A>C (n.*220+5704A>C)
c.320A>C (p.Tyr107Ser)
c.347A>C (p.Tyr116Ser)
c.1202A>C (p.Tyr401Ser)
c.1016A>C (p.Tyr339Ser)
c.935A>C (p.Tyr312Ser)
c.641A>C (p.Tyr214Ser)
c.1022A>C (p.Tyr341Ser)
2g.48688521A=CA1248601168GTF2A1L,LHCGR,STON1-GTF2A1Lc.1276T= (p.Tyr426=)
c.948-382T= (n.948-382T=)
c.3441+16841A= (n.3441+16841A=)
c.*20T= (n.*20T=)
c.1195T= (p.Tyr399=)
c.276+16841A= (n.276+16841A=)
c.*220+5703T= (n.*220+5703T=)
c.319T= (p.Tyr107=)
c.346T= (p.Tyr116=)
c.1201T= (p.Tyr401=)
c.1015T= (p.Tyr339=)
c.934T= (p.Tyr312=)
c.640T= (p.Tyr214=)
c.1021T= (p.Tyr341=)
2g.48688521A>CCA346748320GTF2A1L,LHCGR,STON1-GTF2A1Lc.1276T>G (p.Tyr426Asp)
c.948-382T>G (n.948-382T>G)
c.3441+16841A>C (n.3441+16841A>C)
c.*20T>G (n.*20T>G)
c.1195T>G (p.Tyr399Asp)
c.276+16841A>C (n.276+16841A>C)
c.*220+5703T>G (n.*220+5703T>G)
c.319T>G (p.Tyr107Asp)
c.346T>G (p.Tyr116Asp)
c.1201T>G (p.Tyr401Asp)
c.1015T>G (p.Tyr339Asp)
c.934T>G (p.Tyr312Asp)
c.640T>G (p.Tyr214Asp)
c.1021T>G (p.Tyr341Asp)
2g.48688521A>GCA1653052GTF2A1L,LHCGR,STON1-GTF2A1Lc.1276T>C (p.Tyr426His)
c.948-382T>C (n.948-382T>C)
c.3441+16841A>G (n.3441+16841A>G)
c.*20T>C (n.*20T>C)
c.1195T>C (p.Tyr399His)
c.276+16841A>G (n.276+16841A>G)
c.*220+5703T>C (n.*220+5703T>C)
c.319T>C (p.Tyr107His)
c.346T>C (p.Tyr116His)
c.1201T>C (p.Tyr401His)
c.1015T>C (p.Tyr339His)
c.934T>C (p.Tyr312His)
c.640T>C (p.Tyr214His)
c.1021T>C (p.Tyr341His)
 dbSNP ExAC gnomAD v2
2g.48688521A>TCA346748323GTF2A1L,LHCGR,STON1-GTF2A1Lc.1276T>A (p.Tyr426Asn)
c.948-382T>A (n.948-382T>A)
c.3441+16841A>T (n.3441+16841A>T)
c.*20T>A (n.*20T>A)
c.1195T>A (p.Tyr399Asn)
c.276+16841A>T (n.276+16841A>T)
c.*220+5703T>A (n.*220+5703T>A)
c.319T>A (p.Tyr107Asn)
c.346T>A (p.Tyr116Asn)
c.1201T>A (p.Tyr401Asn)
c.1015T>A (p.Tyr339Asn)
c.934T>A (p.Tyr312Asn)
c.640T>A (p.Tyr214Asn)
c.1021T>A (p.Tyr341Asn)
2g.48688522C>ACA346748325GTF2A1L,LHCGR,STON1-GTF2A1Lc.1275G>T (p.Gln425His)
c.948-383G>T (n.948-383G>T)
c.3441+16842C>A (n.3441+16842C>A)
c.*19G>T (n.*19G>T)
c.1194G>T (p.Gln398His)
c.276+16842C>A (n.276+16842C>A)
c.*220+5702G>T (n.*220+5702G>T)
c.318G>T (p.Gln106His)
c.345G>T (p.Gln115His)
c.1200G>T (p.Gln400His)
c.1014G>T (p.Gln338His)
c.933G>T (p.Gln311His)
c.639G>T (p.Gln213His)
c.1020G>T (p.Gln340His)
2g.48688522C=CA1248601169GTF2A1L,LHCGR,STON1-GTF2A1Lc.1275G= (p.Gln425=)
c.948-383G= (n.948-383G=)
c.3441+16842C= (n.3441+16842C=)
c.*19G= (n.*19G=)
c.1194G= (p.Gln398=)
c.276+16842C= (n.276+16842C=)
c.*220+5702G= (n.*220+5702G=)
c.318G= (p.Gln106=)
c.345G= (p.Gln115=)
c.1200G= (p.Gln400=)
c.1014G= (p.Gln338=)
c.933G= (p.Gln311=)
c.639G= (p.Gln213=)
c.1020G= (p.Gln340=)
2g.48688522C>GCA346748327GTF2A1L,LHCGR,STON1-GTF2A1Lc.1275G>C (p.Gln425His)
c.948-383G>C (n.948-383G>C)
c.3441+16842C>G (n.3441+16842C>G)
c.*19G>C (n.*19G>C)
c.1194G>C (p.Gln398His)
c.276+16842C>G (n.276+16842C>G)
c.*220+5702G>C (n.*220+5702G>C)
c.318G>C (p.Gln106His)
c.345G>C (p.Gln115His)
c.1200G>C (p.Gln400His)
c.1014G>C (p.Gln338His)
c.933G>C (p.Gln311His)
c.639G>C (p.Gln213His)
c.1020G>C (p.Gln340His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688522C>TCA426124546GTF2A1L,LHCGR,STON1-GTF2A1Lc.1275G>A (p.Gln425=)
c.948-383G>A (n.948-383G>A)
c.3441+16842C>T (n.3441+16842C>T)
c.*19G>A (n.*19G>A)
c.1194G>A (p.Gln398=)
c.276+16842C>T (n.276+16842C>T)
c.*220+5702G>A (n.*220+5702G>A)
c.318G>A (p.Gln106=)
c.345G>A (p.Gln115=)
c.1200G>A (p.Gln400=)
c.1014G>A (p.Gln338=)
c.933G>A (p.Gln311=)
c.639G>A (p.Gln213=)
c.1020G>A (p.Gln340=)
2g.48688523T>ACA346748331GTF2A1L,LHCGR,STON1-GTF2A1Lc.1274A>T (p.Gln425Leu)
c.948-384A>T (n.948-384A>T)
c.3441+16843T>A (n.3441+16843T>A)
c.*18A>T (n.*18A>T)
c.1193A>T (p.Gln398Leu)
c.276+16843T>A (n.276+16843T>A)
c.*220+5701A>T (n.*220+5701A>T)
c.317A>T (p.Gln106Leu)
c.344A>T (p.Gln115Leu)
c.1199A>T (p.Gln400Leu)
c.1013A>T (p.Gln338Leu)
c.932A>T (p.Gln311Leu)
c.638A>T (p.Gln213Leu)
c.1019A>T (p.Gln340Leu)
2g.48688523T>CCA1653053GTF2A1L,LHCGR,STON1-GTF2A1Lc.1274A>G (p.Gln425Arg)
c.948-384A>G (n.948-384A>G)
c.3441+16843T>C (n.3441+16843T>C)
c.*18A>G (n.*18A>G)
c.1193A>G (p.Gln398Arg)
c.276+16843T>C (n.276+16843T>C)
c.*220+5701A>G (n.*220+5701A>G)
c.317A>G (p.Gln106Arg)
c.344A>G (p.Gln115Arg)
c.1199A>G (p.Gln400Arg)
c.1013A>G (p.Gln338Arg)
c.932A>G (p.Gln311Arg)
c.638A>G (p.Gln213Arg)
c.1019A>G (p.Gln340Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688523T>GCA346748328GTF2A1L,LHCGR,STON1-GTF2A1Lc.1274A>C (p.Gln425Pro)
c.948-384A>C (n.948-384A>C)
c.3441+16843T>G (n.3441+16843T>G)
c.*18A>C (n.*18A>C)
c.1193A>C (p.Gln398Pro)
c.276+16843T>G (n.276+16843T>G)
c.*220+5701A>C (n.*220+5701A>C)
c.317A>C (p.Gln106Pro)
c.344A>C (p.Gln115Pro)
c.1199A>C (p.Gln400Pro)
c.1013A>C (p.Gln338Pro)
c.932A>C (p.Gln311Pro)
c.638A>C (p.Gln213Pro)
c.1019A>C (p.Gln340Pro)
2g.48688523T=CA1248601170GTF2A1L,LHCGR,STON1-GTF2A1Lc.1274A= (p.Gln425=)
c.948-384A= (n.948-384A=)
c.3441+16843T= (n.3441+16843T=)
c.*18A= (n.*18A=)
c.1193A= (p.Gln398=)
c.276+16843T= (n.276+16843T=)
c.*220+5701A= (n.*220+5701A=)
c.317A= (p.Gln106=)
c.344A= (p.Gln115=)
c.1199A= (p.Gln400=)
c.1013A= (p.Gln338=)
c.932A= (p.Gln311=)
c.638A= (p.Gln213=)
c.1019A= (p.Gln340=)
2g.48688524G>ACA346748333GTF2A1L,LHCGR,STON1-GTF2A1Lc.1273C>T (p.Gln425Ter)
c.948-385C>T (n.948-385C>T)
c.3441+16844G>A (n.3441+16844G>A)
c.*17C>T (n.*17C>T)
c.1192C>T (p.Gln398Ter)
c.276+16844G>A (n.276+16844G>A)
c.*220+5700C>T (n.*220+5700C>T)
c.316C>T (p.Gln106Ter)
c.343C>T (p.Gln115Ter)
c.1198C>T (p.Gln400Ter)
c.1012C>T (p.Gln338Ter)
c.931C>T (p.Gln311Ter)
c.637C>T (p.Gln213Ter)
c.1018C>T (p.Gln340Ter)
2g.48688524G>CCA346748335GTF2A1L,LHCGR,STON1-GTF2A1Lc.1273C>G (p.Gln425Glu)
c.948-385C>G (n.948-385C>G)
c.3441+16844G>C (n.3441+16844G>C)
c.*17C>G (n.*17C>G)
c.1192C>G (p.Gln398Glu)
c.276+16844G>C (n.276+16844G>C)
c.*220+5700C>G (n.*220+5700C>G)
c.316C>G (p.Gln106Glu)
c.343C>G (p.Gln115Glu)
c.1198C>G (p.Gln400Glu)
c.1012C>G (p.Gln338Glu)
c.931C>G (p.Gln311Glu)
c.637C>G (p.Gln213Glu)
c.1018C>G (p.Gln340Glu)
2g.48688524G>TCA346748337GTF2A1L,LHCGR,STON1-GTF2A1Lc.1273C>A (p.Gln425Lys)
c.948-385C>A (n.948-385C>A)
c.3441+16844G>T (n.3441+16844G>T)
c.*17C>A (n.*17C>A)
c.1192C>A (p.Gln398Lys)
c.276+16844G>T (n.276+16844G>T)
c.*220+5700C>A (n.*220+5700C>A)
c.316C>A (p.Gln106Lys)
c.343C>A (p.Gln115Lys)
c.1198C>A (p.Gln400Lys)
c.1012C>A (p.Gln338Lys)
c.931C>A (p.Gln311Lys)
c.637C>A (p.Gln213Lys)
c.1018C>A (p.Gln340Lys)
2g.48688525G>ACA1653054GTF2A1L,LHCGR,STON1-GTF2A1Lc.1272C>T (p.Gly424=)
c.948-386C>T (n.948-386C>T)
c.3441+16845G>A (n.3441+16845G>A)
c.*16C>T (n.*16C>T)
c.1191C>T (p.Gly397=)
c.276+16845G>A (n.276+16845G>A)
c.*220+5699C>T (n.*220+5699C>T)
c.315C>T (p.Gly105=)
c.342C>T (p.Gly114=)
c.1197C>T (p.Gly399=)
c.1011C>T (p.Gly337=)
c.930C>T (p.Gly310=)
c.636C>T (p.Gly212=)
c.1017C>T (p.Gly339=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688525G>CCA426124547GTF2A1L,LHCGR,STON1-GTF2A1Lc.1272C>G (p.Gly424=)
c.948-386C>G (n.948-386C>G)
c.3441+16845G>C (n.3441+16845G>C)
c.*16C>G (n.*16C>G)
c.1191C>G (p.Gly397=)
c.276+16845G>C (n.276+16845G>C)
c.*220+5699C>G (n.*220+5699C>G)
c.315C>G (p.Gly105=)
c.342C>G (p.Gly114=)
c.1197C>G (p.Gly399=)
c.1011C>G (p.Gly337=)
c.930C>G (p.Gly310=)
c.636C>G (p.Gly212=)
c.1017C>G (p.Gly339=)
2g.48688525G=CA1248601171GTF2A1L,LHCGR,STON1-GTF2A1Lc.1272C= (p.Gly424=)
c.948-386C= (n.948-386C=)
c.3441+16845G= (n.3441+16845G=)
c.*16C= (n.*16C=)
c.1191C= (p.Gly397=)
c.276+16845G= (n.276+16845G=)
c.*220+5699C= (n.*220+5699C=)
c.315C= (p.Gly105=)
c.342C= (p.Gly114=)
c.1197C= (p.Gly399=)
c.1011C= (p.Gly337=)
c.930C= (p.Gly310=)
c.636C= (p.Gly212=)
c.1017C= (p.Gly339=)
2g.48688525G>TCA426124548GTF2A1L,LHCGR,STON1-GTF2A1Lc.1272C>A (p.Gly424=)
c.948-386C>A (n.948-386C>A)
c.3441+16845G>T (n.3441+16845G>T)
c.*16C>A (n.*16C>A)
c.1191C>A (p.Gly397=)
c.276+16845G>T (n.276+16845G>T)
c.*220+5699C>A (n.*220+5699C>A)
c.315C>A (p.Gly105=)
c.342C>A (p.Gly114=)
c.1197C>A (p.Gly399=)
c.1011C>A (p.Gly337=)
c.930C>A (p.Gly310=)
c.636C>A (p.Gly212=)
c.1017C>A (p.Gly339=)
2g.48688526C>ACA346748341GTF2A1L,LHCGR,STON1-GTF2A1Lc.1271G>T (p.Gly424Val)
c.948-387G>T (n.948-387G>T)
c.3441+16846C>A (n.3441+16846C>A)
c.*15G>T (n.*15G>T)
c.1190G>T (p.Gly397Val)
c.276+16846C>A (n.276+16846C>A)
c.*220+5698G>T (n.*220+5698G>T)
c.314G>T (p.Gly105Val)
c.341G>T (p.Gly114Val)
c.1196G>T (p.Gly399Val)
c.1010G>T (p.Gly337Val)
c.929G>T (p.Gly310Val)
c.635G>T (p.Gly212Val)
c.1016G>T (p.Gly339Val)
2g.48688526C>GCA346748342GTF2A1L,LHCGR,STON1-GTF2A1Lc.1271G>C (p.Gly424Ala)
c.948-387G>C (n.948-387G>C)
c.3441+16846C>G (n.3441+16846C>G)
c.*15G>C (n.*15G>C)
c.1190G>C (p.Gly397Ala)
c.276+16846C>G (n.276+16846C>G)
c.*220+5698G>C (n.*220+5698G>C)
c.314G>C (p.Gly105Ala)
c.341G>C (p.Gly114Ala)
c.1196G>C (p.Gly399Ala)
c.1010G>C (p.Gly337Ala)
c.929G>C (p.Gly310Ala)
c.635G>C (p.Gly212Ala)
c.1016G>C (p.Gly339Ala)
2g.48688526C>TCA346748345GTF2A1L,LHCGR,STON1-GTF2A1Lc.1271G>A (p.Gly424Asp)
c.948-387G>A (n.948-387G>A)
c.3441+16846C>T (n.3441+16846C>T)
c.*15G>A (n.*15G>A)
c.1190G>A (p.Gly397Asp)
c.276+16846C>T (n.276+16846C>T)
c.*220+5698G>A (n.*220+5698G>A)
c.314G>A (p.Gly105Asp)
c.341G>A (p.Gly114Asp)
c.1196G>A (p.Gly399Asp)
c.1010G>A (p.Gly337Asp)
c.929G>A (p.Gly310Asp)
c.635G>A (p.Gly212Asp)
c.1016G>A (p.Gly339Asp)
2g.48688527C>ACA346748347GTF2A1L,LHCGR,STON1-GTF2A1Lc.1270G>T (p.Gly424Cys)
c.948-388G>T (n.948-388G>T)
c.3441+16847C>A (n.3441+16847C>A)
c.*14G>T (n.*14G>T)
c.1189G>T (p.Gly397Cys)
c.276+16847C>A (n.276+16847C>A)
c.*220+5697G>T (n.*220+5697G>T)
c.313G>T (p.Gly105Cys)
c.340G>T (p.Gly114Cys)
c.1195G>T (p.Gly399Cys)
c.1009G>T (p.Gly337Cys)
c.928G>T (p.Gly310Cys)
c.634G>T (p.Gly212Cys)
c.1015G>T (p.Gly339Cys)
2g.48688527C=CA1248601172GTF2A1L,LHCGR,STON1-GTF2A1Lc.1270G= (p.Gly424=)
c.948-388G= (n.948-388G=)
c.3441+16847C= (n.3441+16847C=)
c.*14G= (n.*14G=)
c.1189G= (p.Gly397=)
c.276+16847C= (n.276+16847C=)
c.*220+5697G= (n.*220+5697G=)
c.313G= (p.Gly105=)
c.340G= (p.Gly114=)
c.1195G= (p.Gly399=)
c.1009G= (p.Gly337=)
c.928G= (p.Gly310=)
c.634G= (p.Gly212=)
c.1015G= (p.Gly339=)
2g.48688527C>GCA346748349GTF2A1L,LHCGR,STON1-GTF2A1Lc.1270G>C (p.Gly424Arg)
c.948-388G>C (n.948-388G>C)
c.3441+16847C>G (n.3441+16847C>G)
c.*14G>C (n.*14G>C)
c.1189G>C (p.Gly397Arg)
c.276+16847C>G (n.276+16847C>G)
c.*220+5697G>C (n.*220+5697G>C)
c.313G>C (p.Gly105Arg)
c.340G>C (p.Gly114Arg)
c.1195G>C (p.Gly399Arg)
c.1009G>C (p.Gly337Arg)
c.928G>C (p.Gly310Arg)
c.634G>C (p.Gly212Arg)
c.1015G>C (p.Gly339Arg)
2g.48688527C>TCA46753083GTF2A1L,LHCGR,STON1-GTF2A1Lc.1270G>A (p.Gly424Ser)
c.948-388G>A (n.948-388G>A)
c.3441+16847C>T (n.3441+16847C>T)
c.*14G>A (n.*14G>A)
c.1189G>A (p.Gly397Ser)
c.276+16847C>T (n.276+16847C>T)
c.*220+5697G>A (n.*220+5697G>A)
c.313G>A (p.Gly105Ser)
c.340G>A (p.Gly114Ser)
c.1195G>A (p.Gly399Ser)
c.1009G>A (p.Gly337Ser)
c.928G>A (p.Gly310Ser)
c.634G>A (p.Gly212Ser)
c.1015G>A (p.Gly339Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48688528C>ACA346748352GTF2A1L,LHCGR,STON1-GTF2A1Lc.1269G>T (p.Lys423Asn)
c.948-389G>T (n.948-389G>T)
c.3441+16848C>A (n.3441+16848C>A)
c.*13G>T (n.*13G>T)
c.1188G>T (p.Lys396Asn)
c.276+16848C>A (n.276+16848C>A)
c.*220+5696G>T (n.*220+5696G>T)
c.312G>T (p.Lys104Asn)
c.339G>T (p.Lys113Asn)
c.1194G>T (p.Lys398Asn)
c.1008G>T (p.Lys336Asn)
c.927G>T (p.Lys309Asn)
c.633G>T (p.Lys211Asn)
c.1014G>T (p.Lys338Asn)
2g.48688528C=CA1248601173GTF2A1L,LHCGR,STON1-GTF2A1Lc.1269G= (p.Lys423=)
c.948-389G= (n.948-389G=)
c.3441+16848C= (n.3441+16848C=)
c.*13G= (n.*13G=)
c.1188G= (p.Lys396=)
c.276+16848C= (n.276+16848C=)
c.*220+5696G= (n.*220+5696G=)
c.312G= (p.Lys104=)
c.339G= (p.Lys113=)
c.1194G= (p.Lys398=)
c.1008G= (p.Lys336=)
c.927G= (p.Lys309=)
c.633G= (p.Lys211=)
c.1014G= (p.Lys338=)
2g.48688528C>GCA346748355GTF2A1L,LHCGR,STON1-GTF2A1Lc.1269G>C (p.Lys423Asn)
c.948-389G>C (n.948-389G>C)
c.3441+16848C>G (n.3441+16848C>G)
c.*13G>C (n.*13G>C)
c.1188G>C (p.Lys396Asn)
c.276+16848C>G (n.276+16848C>G)
c.*220+5696G>C (n.*220+5696G>C)
c.312G>C (p.Lys104Asn)
c.339G>C (p.Lys113Asn)
c.1194G>C (p.Lys398Asn)
c.1008G>C (p.Lys336Asn)
c.927G>C (p.Lys309Asn)
c.633G>C (p.Lys211Asn)
c.1014G>C (p.Lys338Asn)
2g.48688528C>TCA1653055GTF2A1L,LHCGR,STON1-GTF2A1Lc.1269G>A (p.Lys423=)
c.948-389G>A (n.948-389G>A)
c.3441+16848C>T (n.3441+16848C>T)
c.*13G>A (n.*13G>A)
c.1188G>A (p.Lys396=)
c.276+16848C>T (n.276+16848C>T)
c.*220+5696G>A (n.*220+5696G>A)
c.312G>A (p.Lys104=)
c.339G>A (p.Lys113=)
c.1194G>A (p.Lys398=)
c.1008G>A (p.Lys336=)
c.927G>A (p.Lys309=)
c.633G>A (p.Lys211=)
c.1014G>A (p.Lys338=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688529T>ACA346748359GTF2A1L,LHCGR,STON1-GTF2A1Lc.1268A>T (p.Lys423Met)
c.948-390A>T (n.948-390A>T)
c.3441+16849T>A (n.3441+16849T>A)
c.*12A>T (n.*12A>T)
c.1187A>T (p.Lys396Met)
c.276+16849T>A (n.276+16849T>A)
c.*220+5695A>T (n.*220+5695A>T)
c.311A>T (p.Lys104Met)
c.338A>T (p.Lys113Met)
c.1193A>T (p.Lys398Met)
c.1007A>T (p.Lys336Met)
c.926A>T (p.Lys309Met)
c.632A>T (p.Lys211Met)
c.1013A>T (p.Lys338Met)
2g.48688529T>CCA346748361GTF2A1L,LHCGR,STON1-GTF2A1Lc.1268A>G (p.Lys423Arg)
c.948-390A>G (n.948-390A>G)
c.3441+16849T>C (n.3441+16849T>C)
c.*12A>G (n.*12A>G)
c.1187A>G (p.Lys396Arg)
c.276+16849T>C (n.276+16849T>C)
c.*220+5695A>G (n.*220+5695A>G)
c.311A>G (p.Lys104Arg)
c.338A>G (p.Lys113Arg)
c.1193A>G (p.Lys398Arg)
c.1007A>G (p.Lys336Arg)
c.926A>G (p.Lys309Arg)
c.632A>G (p.Lys211Arg)
c.1013A>G (p.Lys338Arg)
2g.48688529T>GCA346748357GTF2A1L,LHCGR,STON1-GTF2A1Lc.1268A>C (p.Lys423Thr)
c.948-390A>C (n.948-390A>C)
c.3441+16849T>G (n.3441+16849T>G)
c.*12A>C (n.*12A>C)
c.1187A>C (p.Lys396Thr)
c.276+16849T>G (n.276+16849T>G)
c.*220+5695A>C (n.*220+5695A>C)
c.311A>C (p.Lys104Thr)
c.338A>C (p.Lys113Thr)
c.1193A>C (p.Lys398Thr)
c.1007A>C (p.Lys336Thr)
c.926A>C (p.Lys309Thr)
c.632A>C (p.Lys211Thr)
c.1013A>C (p.Lys338Thr)
2g.48688530T>ACA346748363GTF2A1L,LHCGR,STON1-GTF2A1Lc.1267A>T (p.Lys423Ter)
c.948-391A>T (n.948-391A>T)
c.3441+16850T>A (n.3441+16850T>A)
c.*11A>T (n.*11A>T)
c.1186A>T (p.Lys396Ter)
c.276+16850T>A (n.276+16850T>A)
c.*220+5694A>T (n.*220+5694A>T)
c.310A>T (p.Lys104Ter)
c.337A>T (p.Lys113Ter)
c.1192A>T (p.Lys398Ter)
c.1006A>T (p.Lys336Ter)
c.925A>T (p.Lys309Ter)
c.631A>T (p.Lys211Ter)
c.1012A>T (p.Lys338Ter)
2g.48688530T>CCA346748370GTF2A1L,LHCGR,STON1-GTF2A1Lc.1267A>G (p.Lys423Glu)
c.948-391A>G (n.948-391A>G)
c.3441+16850T>C (n.3441+16850T>C)
c.*11A>G (n.*11A>G)
c.1186A>G (p.Lys396Glu)
c.276+16850T>C (n.276+16850T>C)
c.*220+5694A>G (n.*220+5694A>G)
c.310A>G (p.Lys104Glu)
c.337A>G (p.Lys113Glu)
c.1192A>G (p.Lys398Glu)
c.1006A>G (p.Lys336Glu)
c.925A>G (p.Lys309Glu)
c.631A>G (p.Lys211Glu)
c.1012A>G (p.Lys338Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.48688530T>GCA346748366GTF2A1L,LHCGR,STON1-GTF2A1Lc.1267A>C (p.Lys423Gln)
c.948-391A>C (n.948-391A>C)
c.3441+16850T>G (n.3441+16850T>G)
c.*11A>C (n.*11A>C)
c.1186A>C (p.Lys396Gln)
c.276+16850T>G (n.276+16850T>G)
c.*220+5694A>C (n.*220+5694A>C)
c.310A>C (p.Lys104Gln)
c.337A>C (p.Lys113Gln)
c.1192A>C (p.Lys398Gln)
c.1006A>C (p.Lys336Gln)
c.925A>C (p.Lys309Gln)
c.631A>C (p.Lys211Gln)
c.1012A>C (p.Lys338Gln)
2g.48688530T=CA1248601174GTF2A1L,LHCGR,STON1-GTF2A1Lc.1267A= (p.Lys423=)
c.948-391A= (n.948-391A=)
c.3441+16850T= (n.3441+16850T=)
c.*11A= (n.*11A=)
c.1186A= (p.Lys396=)
c.276+16850T= (n.276+16850T=)
c.*220+5694A= (n.*220+5694A=)
c.310A= (p.Lys104=)
c.337A= (p.Lys113=)
c.1192A= (p.Lys398=)
c.1006A= (p.Lys336=)
c.925A= (p.Lys309=)
c.631A= (p.Lys211=)
c.1012A= (p.Lys338=)
2g.48688531G>ACA426124549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1266C>T (p.Thr422=)
c.948-392C>T (n.948-392C>T)
c.3441+16851G>A (n.3441+16851G>A)
c.*10C>T (n.*10C>T)
c.1185C>T (p.Thr395=)
c.276+16851G>A (n.276+16851G>A)
c.*220+5693C>T (n.*220+5693C>T)
c.309C>T (p.Thr103=)
c.336C>T (p.Thr112=)
c.1191C>T (p.Thr397=)
c.1005C>T (p.Thr335=)
c.924C>T (p.Thr308=)
c.630C>T (p.Thr210=)
c.1011C>T (p.Thr337=)
2g.48688531G>CCA426124550GTF2A1L,LHCGR,STON1-GTF2A1Lc.1266C>G (p.Thr422=)
c.948-392C>G (n.948-392C>G)
c.3441+16851G>C (n.3441+16851G>C)
c.*10C>G (n.*10C>G)
c.1185C>G (p.Thr395=)
c.276+16851G>C (n.276+16851G>C)
c.*220+5693C>G (n.*220+5693C>G)
c.309C>G (p.Thr103=)
c.336C>G (p.Thr112=)
c.1191C>G (p.Thr397=)
c.1005C>G (p.Thr335=)
c.924C>G (p.Thr308=)
c.630C>G (p.Thr210=)
c.1011C>G (p.Thr337=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688531G=CA1248601175GTF2A1L,LHCGR,STON1-GTF2A1Lc.1266C= (p.Thr422=)
c.948-392C= (n.948-392C=)
c.3441+16851G= (n.3441+16851G=)
c.*10C= (n.*10C=)
c.1185C= (p.Thr395=)
c.276+16851G= (n.276+16851G=)
c.*220+5693C= (n.*220+5693C=)
c.309C= (p.Thr103=)
c.336C= (p.Thr112=)
c.1191C= (p.Thr397=)
c.1005C= (p.Thr335=)
c.924C= (p.Thr308=)
c.630C= (p.Thr210=)
c.1011C= (p.Thr337=)
2g.48688531G>TCA426124551GTF2A1L,LHCGR,STON1-GTF2A1Lc.1266C>A (p.Thr422=)
c.948-392C>A (n.948-392C>A)
c.3441+16851G>T (n.3441+16851G>T)
c.*10C>A (n.*10C>A)
c.1185C>A (p.Thr395=)
c.276+16851G>T (n.276+16851G>T)
c.*220+5693C>A (n.*220+5693C>A)
c.309C>A (p.Thr103=)
c.336C>A (p.Thr112=)
c.1191C>A (p.Thr397=)
c.1005C>A (p.Thr335=)
c.924C>A (p.Thr308=)
c.630C>A (p.Thr210=)
c.1011C>A (p.Thr337=)
2g.48688532G>ACA346748372GTF2A1L,LHCGR,STON1-GTF2A1Lc.1265C>T (p.Thr422Ile)
c.948-393C>T (n.948-393C>T)
c.3441+16852G>A (n.3441+16852G>A)
c.*9C>T (n.*9C>T)
c.1184C>T (p.Thr395Ile)
c.276+16852G>A (n.276+16852G>A)
c.*220+5692C>T (n.*220+5692C>T)
c.308C>T (p.Thr103Ile)
c.335C>T (p.Thr112Ile)
c.1190C>T (p.Thr397Ile)
c.1004C>T (p.Thr335Ile)
c.923C>T (p.Thr308Ile)
c.629C>T (p.Thr210Ile)
c.1010C>T (p.Thr337Ile)
 dbSNP
2g.48688532G>CCA346748374GTF2A1L,LHCGR,STON1-GTF2A1Lc.1265C>G (p.Thr422Ser)
c.948-393C>G (n.948-393C>G)
c.3441+16852G>C (n.3441+16852G>C)
c.*9C>G (n.*9C>G)
c.1184C>G (p.Thr395Ser)
c.276+16852G>C (n.276+16852G>C)
c.*220+5692C>G (n.*220+5692C>G)
c.308C>G (p.Thr103Ser)
c.335C>G (p.Thr112Ser)
c.1190C>G (p.Thr397Ser)
c.1004C>G (p.Thr335Ser)
c.923C>G (p.Thr308Ser)
c.629C>G (p.Thr210Ser)
c.1010C>G (p.Thr337Ser)
 gnomAD v4
2g.48688532G>TCA346748375GTF2A1L,LHCGR,STON1-GTF2A1Lc.1265C>A (p.Thr422Asn)
c.948-393C>A (n.948-393C>A)
c.3441+16852G>T (n.3441+16852G>T)
c.*9C>A (n.*9C>A)
c.1184C>A (p.Thr395Asn)
c.276+16852G>T (n.276+16852G>T)
c.*220+5692C>A (n.*220+5692C>A)
c.308C>A (p.Thr103Asn)
c.335C>A (p.Thr112Asn)
c.1190C>A (p.Thr397Asn)
c.1004C>A (p.Thr335Asn)
c.923C>A (p.Thr308Asn)
c.629C>A (p.Thr210Asn)
c.1010C>A (p.Thr337Asn)
 gnomAD v4
2g.48688533T>ACA346748377GTF2A1L,LHCGR,STON1-GTF2A1Lc.1264A>T (p.Thr422Ser)
c.948-394A>T (n.948-394A>T)
c.3441+16853T>A (n.3441+16853T>A)
c.*8A>T (n.*8A>T)
c.1183A>T (p.Thr395Ser)
c.276+16853T>A (n.276+16853T>A)
c.*220+5691A>T (n.*220+5691A>T)
c.307A>T (p.Thr103Ser)
c.334A>T (p.Thr112Ser)
c.1189A>T (p.Thr397Ser)
c.1003A>T (p.Thr335Ser)
c.922A>T (p.Thr308Ser)
c.628A>T (p.Thr210Ser)
c.1009A>T (p.Thr337Ser)
2g.48688533T>CCA346748379GTF2A1L,LHCGR,STON1-GTF2A1Lc.1264A>G (p.Thr422Ala)
c.948-394A>G (n.948-394A>G)
c.3441+16853T>C (n.3441+16853T>C)
c.*8A>G (n.*8A>G)
c.1183A>G (p.Thr395Ala)
c.276+16853T>C (n.276+16853T>C)
c.*220+5691A>G (n.*220+5691A>G)
c.307A>G (p.Thr103Ala)
c.334A>G (p.Thr112Ala)
c.1189A>G (p.Thr397Ala)
c.1003A>G (p.Thr335Ala)
c.922A>G (p.Thr308Ala)
c.628A>G (p.Thr210Ala)
c.1009A>G (p.Thr337Ala)
2g.48688533T>GCA346748381GTF2A1L,LHCGR,STON1-GTF2A1Lc.1264A>C (p.Thr422Pro)
c.948-394A>C (n.948-394A>C)
c.3441+16853T>G (n.3441+16853T>G)
c.*8A>C (n.*8A>C)
c.1183A>C (p.Thr395Pro)
c.276+16853T>G (n.276+16853T>G)
c.*220+5691A>C (n.*220+5691A>C)
c.307A>C (p.Thr103Pro)
c.334A>C (p.Thr112Pro)
c.1189A>C (p.Thr397Pro)
c.1003A>C (p.Thr335Pro)
c.922A>C (p.Thr308Pro)
c.628A>C (p.Thr210Pro)
c.1009A>C (p.Thr337Pro)
 dbSNP
2g.48688533T=CA1248601176GTF2A1L,LHCGR,STON1-GTF2A1Lc.1264A= (p.Thr422=)
c.948-394A= (n.948-394A=)
c.3441+16853T= (n.3441+16853T=)
c.*8A= (n.*8A=)
c.1183A= (p.Thr395=)
c.276+16853T= (n.276+16853T=)
c.*220+5691A= (n.*220+5691A=)
c.307A= (p.Thr103=)
c.334A= (p.Thr112=)
c.1189A= (p.Thr397=)
c.1003A= (p.Thr335=)
c.922A= (p.Thr308=)
c.628A= (p.Thr210=)
c.1009A= (p.Thr337=)
2g.48688534T>ACA1653056GTF2A1L,LHCGR,STON1-GTF2A1Lc.1263A>T (p.Gln421His)
c.948-395A>T (n.948-395A>T)
c.3441+16854T>A (n.3441+16854T>A)
c.*7A>T (n.*7A>T)
c.1182A>T (p.Gln394His)
c.276+16854T>A (n.276+16854T>A)
c.*220+5690A>T (n.*220+5690A>T)
c.306A>T (p.Gln102His)
c.333A>T (p.Gln111His)
c.1188A>T (p.Gln396His)
c.1002A>T (p.Gln334His)
c.921A>T (p.Gln307His)
c.627A>T (p.Gln209His)
c.1008A>T (p.Gln336His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688534T>CCA426124552GTF2A1L,LHCGR,STON1-GTF2A1Lc.1263A>G (p.Gln421=)
c.948-395A>G (n.948-395A>G)
c.3441+16854T>C (n.3441+16854T>C)
c.*7A>G (n.*7A>G)
c.1182A>G (p.Gln394=)
c.276+16854T>C (n.276+16854T>C)
c.*220+5690A>G (n.*220+5690A>G)
c.306A>G (p.Gln102=)
c.333A>G (p.Gln111=)
c.1188A>G (p.Gln396=)
c.1002A>G (p.Gln334=)
c.921A>G (p.Gln307=)
c.627A>G (p.Gln209=)
c.1008A>G (p.Gln336=)
 dbSNP
2g.48688534T>GCA46753094GTF2A1L,LHCGR,STON1-GTF2A1Lc.1263A>C (p.Gln421His)
c.948-395A>C (n.948-395A>C)
c.3441+16854T>G (n.3441+16854T>G)
c.*7A>C (n.*7A>C)
c.1182A>C (p.Gln394His)
c.276+16854T>G (n.276+16854T>G)
c.*220+5690A>C (n.*220+5690A>C)
c.306A>C (p.Gln102His)
c.333A>C (p.Gln111His)
c.1188A>C (p.Gln396His)
c.1002A>C (p.Gln334His)
c.921A>C (p.Gln307His)
c.627A>C (p.Gln209His)
c.1008A>C (p.Gln336His)
 dbSNP gnomAD v4
2g.48688534T=CA1248601177GTF2A1L,LHCGR,STON1-GTF2A1Lc.1263A= (p.Gln421=)
c.948-395A= (n.948-395A=)
c.3441+16854T= (n.3441+16854T=)
c.*7A= (n.*7A=)
c.1182A= (p.Gln394=)
c.276+16854T= (n.276+16854T=)
c.*220+5690A= (n.*220+5690A=)
c.306A= (p.Gln102=)
c.333A= (p.Gln111=)
c.1188A= (p.Gln396=)
c.1002A= (p.Gln334=)
c.921A= (p.Gln307=)
c.627A= (p.Gln209=)
c.1008A= (p.Gln336=)
2g.48688535T>ACA346748386GTF2A1L,LHCGR,STON1-GTF2A1Lc.1262A>T (p.Gln421Leu)
c.948-396A>T (n.948-396A>T)
c.3441+16855T>A (n.3441+16855T>A)
c.*6A>T (n.*6A>T)
c.1181A>T (p.Gln394Leu)
c.276+16855T>A (n.276+16855T>A)
c.*220+5689A>T (n.*220+5689A>T)
c.305A>T (p.Gln102Leu)
c.332A>T (p.Gln111Leu)
c.1187A>T (p.Gln396Leu)
c.1001A>T (p.Gln334Leu)
c.920A>T (p.Gln307Leu)
c.626A>T (p.Gln209Leu)
c.1007A>T (p.Gln336Leu)
2g.48688535T>CCA346748388GTF2A1L,LHCGR,STON1-GTF2A1Lc.1262A>G (p.Gln421Arg)
c.948-396A>G (n.948-396A>G)
c.3441+16855T>C (n.3441+16855T>C)
c.*6A>G (n.*6A>G)
c.1181A>G (p.Gln394Arg)
c.276+16855T>C (n.276+16855T>C)
c.*220+5689A>G (n.*220+5689A>G)
c.305A>G (p.Gln102Arg)
c.332A>G (p.Gln111Arg)
c.1187A>G (p.Gln396Arg)
c.1001A>G (p.Gln334Arg)
c.920A>G (p.Gln307Arg)
c.626A>G (p.Gln209Arg)
c.1007A>G (p.Gln336Arg)
2g.48688535T>GCA346748390GTF2A1L,LHCGR,STON1-GTF2A1Lc.1262A>C (p.Gln421Pro)
c.948-396A>C (n.948-396A>C)
c.3441+16855T>G (n.3441+16855T>G)
c.*6A>C (n.*6A>C)
c.1181A>C (p.Gln394Pro)
c.276+16855T>G (n.276+16855T>G)
c.*220+5689A>C (n.*220+5689A>C)
c.305A>C (p.Gln102Pro)
c.332A>C (p.Gln111Pro)
c.1187A>C (p.Gln396Pro)
c.1001A>C (p.Gln334Pro)
c.920A>C (p.Gln307Pro)
c.626A>C (p.Gln209Pro)
c.1007A>C (p.Gln336Pro)
2g.48688536G>ACA346748396GTF2A1L,LHCGR,STON1-GTF2A1Lc.1261C>T (p.Gln421Ter)
c.948-397C>T (n.948-397C>T)
c.3441+16856G>A (n.3441+16856G>A)
c.*5C>T (n.*5C>T)
c.1180C>T (p.Gln394Ter)
c.276+16856G>A (n.276+16856G>A)
c.*220+5688C>T (n.*220+5688C>T)
c.304C>T (p.Gln102Ter)
c.331C>T (p.Gln111Ter)
c.1186C>T (p.Gln396Ter)
c.1000C>T (p.Gln334Ter)
c.919C>T (p.Gln307Ter)
c.625C>T (p.Gln209Ter)
c.1006C>T (p.Gln336Ter)
2g.48688536G>CCA346748394GTF2A1L,LHCGR,STON1-GTF2A1Lc.1261C>G (p.Gln421Glu)
c.948-397C>G (n.948-397C>G)
c.3441+16856G>C (n.3441+16856G>C)
c.*5C>G (n.*5C>G)
c.1180C>G (p.Gln394Glu)
c.276+16856G>C (n.276+16856G>C)
c.*220+5688C>G (n.*220+5688C>G)
c.304C>G (p.Gln102Glu)
c.331C>G (p.Gln111Glu)
c.1186C>G (p.Gln396Glu)
c.1000C>G (p.Gln334Glu)
c.919C>G (p.Gln307Glu)
c.625C>G (p.Gln209Glu)
c.1006C>G (p.Gln336Glu)
2g.48688536G>TCA346748392GTF2A1L,LHCGR,STON1-GTF2A1Lc.1261C>A (p.Gln421Lys)
c.948-397C>A (n.948-397C>A)
c.3441+16856G>T (n.3441+16856G>T)
c.*5C>A (n.*5C>A)
c.1180C>A (p.Gln394Lys)
c.276+16856G>T (n.276+16856G>T)
c.*220+5688C>A (n.*220+5688C>A)
c.304C>A (p.Gln102Lys)
c.331C>A (p.Gln111Lys)
c.1186C>A (p.Gln396Lys)
c.1000C>A (p.Gln334Lys)
c.919C>A (p.Gln307Lys)
c.625C>A (p.Gln209Lys)
c.1006C>A (p.Gln336Lys)
2g.48688537G>ACA426124553GTF2A1L,LHCGR,STON1-GTF2A1Lc.1260C>T (p.Ser420=)
c.948-398C>T (n.948-398C>T)
c.3441+16857G>A (n.3441+16857G>A)
c.*4C>T (n.*4C>T)
c.1179C>T (p.Ser393=)
c.276+16857G>A (n.276+16857G>A)
c.*220+5687C>T (n.*220+5687C>T)
c.303C>T (p.Ser101=)
c.330C>T (p.Ser110=)
c.1185C>T (p.Ser395=)
c.999C>T (p.Ser333=)
c.918C>T (p.Ser306=)
c.624C>T (p.Ser208=)
c.1005C>T (p.Ser335=)
2g.48688537G>CCA426124554GTF2A1L,LHCGR,STON1-GTF2A1Lc.1260C>G (p.Ser420=)
c.948-398C>G (n.948-398C>G)
c.3441+16857G>C (n.3441+16857G>C)
c.*4C>G (n.*4C>G)
c.1179C>G (p.Ser393=)
c.276+16857G>C (n.276+16857G>C)
c.*220+5687C>G (n.*220+5687C>G)
c.303C>G (p.Ser101=)
c.330C>G (p.Ser110=)
c.1185C>G (p.Ser395=)
c.999C>G (p.Ser333=)
c.918C>G (p.Ser306=)
c.624C>G (p.Ser208=)
c.1005C>G (p.Ser335=)
2g.48688537G>TCA426124555GTF2A1L,LHCGR,STON1-GTF2A1Lc.1260C>A (p.Ser420=)
c.948-398C>A (n.948-398C>A)
c.3441+16857G>T (n.3441+16857G>T)
c.*4C>A (n.*4C>A)
c.1179C>A (p.Ser393=)
c.276+16857G>T (n.276+16857G>T)
c.*220+5687C>A (n.*220+5687C>A)
c.303C>A (p.Ser101=)
c.330C>A (p.Ser110=)
c.1185C>A (p.Ser395=)
c.999C>A (p.Ser333=)
c.918C>A (p.Ser306=)
c.624C>A (p.Ser208=)
c.1005C>A (p.Ser335=)
2g.48688538G>ACA1653057GTF2A1L,LHCGR,STON1-GTF2A1Lc.1259C>T (p.Ser420Phe)
c.948-399C>T (n.948-399C>T)
c.3441+16858G>A (n.3441+16858G>A)
c.*3C>T (n.*3C>T)
c.1178C>T (p.Ser393Phe)
c.276+16858G>A (n.276+16858G>A)
c.*220+5686C>T (n.*220+5686C>T)
c.302C>T (p.Ser101Phe)
c.329C>T (p.Ser110Phe)
c.1184C>T (p.Ser395Phe)
c.998C>T (p.Ser333Phe)
c.917C>T (p.Ser306Phe)
c.623C>T (p.Ser208Phe)
c.1004C>T (p.Ser335Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688538G>CCA346748399GTF2A1L,LHCGR,STON1-GTF2A1Lc.1259C>G (p.Ser420Cys)
c.948-399C>G (n.948-399C>G)
c.3441+16858G>C (n.3441+16858G>C)
c.*3C>G (n.*3C>G)
c.1178C>G (p.Ser393Cys)
c.276+16858G>C (n.276+16858G>C)
c.*220+5686C>G (n.*220+5686C>G)
c.302C>G (p.Ser101Cys)
c.329C>G (p.Ser110Cys)
c.1184C>G (p.Ser395Cys)
c.998C>G (p.Ser333Cys)
c.917C>G (p.Ser306Cys)
c.623C>G (p.Ser208Cys)
c.1004C>G (p.Ser335Cys)
2g.48688538G=CA1248601178GTF2A1L,LHCGR,STON1-GTF2A1Lc.1259C= (p.Ser420=)
c.948-399C= (n.948-399C=)
c.3441+16858G= (n.3441+16858G=)
c.*3C= (n.*3C=)
c.1178C= (p.Ser393=)
c.276+16858G= (n.276+16858G=)
c.*220+5686C= (n.*220+5686C=)
c.302C= (p.Ser101=)
c.329C= (p.Ser110=)
c.1184C= (p.Ser395=)
c.998C= (p.Ser333=)
c.917C= (p.Ser306=)
c.623C= (p.Ser208=)
c.1004C= (p.Ser335=)
2g.48688538G>TCA346748401GTF2A1L,LHCGR,STON1-GTF2A1Lc.1259C>A (p.Ser420Tyr)
c.948-399C>A (n.948-399C>A)
c.3441+16858G>T (n.3441+16858G>T)
c.*3C>A (n.*3C>A)
c.1178C>A (p.Ser393Tyr)
c.276+16858G>T (n.276+16858G>T)
c.*220+5686C>A (n.*220+5686C>A)
c.302C>A (p.Ser101Tyr)
c.329C>A (p.Ser110Tyr)
c.1184C>A (p.Ser395Tyr)
c.998C>A (p.Ser333Tyr)
c.917C>A (p.Ser306Tyr)
c.623C>A (p.Ser208Tyr)
c.1004C>A (p.Ser335Tyr)
2g.48688539A>CCA346748404GTF2A1L,LHCGR,STON1-GTF2A1Lc.1258T>G (p.Ser420Ala)
c.948-400T>G (n.948-400T>G)
c.3441+16859A>C (n.3441+16859A>C)
c.*2T>G (n.*2T>G)
c.1177T>G (p.Ser393Ala)
c.276+16859A>C (n.276+16859A>C)
c.*220+5685T>G (n.*220+5685T>G)
c.301T>G (p.Ser101Ala)
c.328T>G (p.Ser110Ala)
c.1183T>G (p.Ser395Ala)
c.997T>G (p.Ser333Ala)
c.916T>G (p.Ser306Ala)
c.622T>G (p.Ser208Ala)
c.1003T>G (p.Ser335Ala)
2g.48688539A>GCA346748406GTF2A1L,LHCGR,STON1-GTF2A1Lc.1258T>C (p.Ser420Pro)
c.948-400T>C (n.948-400T>C)
c.3441+16859A>G (n.3441+16859A>G)
c.*2T>C (n.*2T>C)
c.1177T>C (p.Ser393Pro)
c.276+16859A>G (n.276+16859A>G)
c.*220+5685T>C (n.*220+5685T>C)
c.301T>C (p.Ser101Pro)
c.328T>C (p.Ser110Pro)
c.1183T>C (p.Ser395Pro)
c.997T>C (p.Ser333Pro)
c.916T>C (p.Ser306Pro)
c.622T>C (p.Ser208Pro)
c.1003T>C (p.Ser335Pro)
2g.48688539A>TCA346748408GTF2A1L,LHCGR,STON1-GTF2A1Lc.1258T>A (p.Ser420Thr)
c.948-400T>A (n.948-400T>A)
c.3441+16859A>T (n.3441+16859A>T)
c.*2T>A (n.*2T>A)
c.1177T>A (p.Ser393Thr)
c.276+16859A>T (n.276+16859A>T)
c.*220+5685T>A (n.*220+5685T>A)
c.301T>A (p.Ser101Thr)
c.328T>A (p.Ser110Thr)
c.1183T>A (p.Ser395Thr)
c.997T>A (p.Ser333Thr)
c.916T>A (p.Ser306Thr)
c.622T>A (p.Ser208Thr)
c.1003T>A (p.Ser335Thr)
2g.48688540A>CCA346748412GTF2A1L,LHCGR,STON1-GTF2A1Lc.1257T>G (p.Asp419Glu)
c.948-401T>G (n.948-401T>G)
c.3441+16860A>C (n.3441+16860A>C)
c.*1T>G (n.*1T>G)
c.1176T>G (p.Asp392Glu)
c.276+16860A>C (n.276+16860A>C)
c.*220+5684T>G (n.*220+5684T>G)
c.300T>G (p.Asp100Glu)
c.327T>G (p.Asp109Glu)
c.1182T>G (p.Asp394Glu)
c.996T>G (p.Asp332Glu)
c.915T>G (p.Asp305Glu)
c.621T>G (p.Asp207Glu)
c.1002T>G (p.Asp334Glu)
2g.48688540A>GCA426124556GTF2A1L,LHCGR,STON1-GTF2A1Lc.1257T>C (p.Asp419=)
c.948-401T>C (n.948-401T>C)
c.3441+16860A>G (n.3441+16860A>G)
c.*1T>C (n.*1T>C)
c.1176T>C (p.Asp392=)
c.276+16860A>G (n.276+16860A>G)
c.*220+5684T>C (n.*220+5684T>C)
c.300T>C (p.Asp100=)
c.327T>C (p.Asp109=)
c.1182T>C (p.Asp394=)
c.996T>C (p.Asp332=)
c.915T>C (p.Asp305=)
c.621T>C (p.Asp207=)
c.1002T>C (p.Asp334=)
2g.48688540A>TCA346748414GTF2A1L,LHCGR,STON1-GTF2A1Lc.1257T>A (p.Asp419Glu)
c.948-401T>A (n.948-401T>A)
c.3441+16860A>T (n.3441+16860A>T)
c.*1T>A (n.*1T>A)
c.1176T>A (p.Asp392Glu)
c.276+16860A>T (n.276+16860A>T)
c.*220+5684T>A (n.*220+5684T>A)
c.300T>A (p.Asp100Glu)
c.327T>A (p.Asp109Glu)
c.1182T>A (p.Asp394Glu)
c.996T>A (p.Asp332Glu)
c.915T>A (p.Asp305Glu)
c.621T>A (p.Asp207Glu)
c.1002T>A (p.Asp334Glu)
2g.48688541T>ACA346748417GTF2A1L,LHCGR,STON1-GTF2A1Lc.1256A>T (p.Asp419Val)
c.948-402A>T (n.948-402A>T)
c.3441+16861T>A (n.3441+16861T>A)
c.990A>T (p.Ter330Cys)
c.1175A>T (p.Asp392Val)
c.276+16861T>A (n.276+16861T>A)
c.*220+5683A>T (n.*220+5683A>T)
c.299A>T (p.Asp100Val)
c.326A>T (p.Asp109Val)
c.1181A>T (p.Asp394Val)
c.995A>T (p.Asp332Val)
c.914A>T (p.Asp305Val)
c.620A>T (p.Asp207Val)
c.1001A>T (p.Asp334Val)
2g.48688541T>CCA346748419GTF2A1L,LHCGR,STON1-GTF2A1Lc.1256A>G (p.Asp419Gly)
c.948-402A>G (n.948-402A>G)
c.3441+16861T>C (n.3441+16861T>C)
c.990A>G (p.Ter330Trp)
c.1175A>G (p.Asp392Gly)
c.276+16861T>C (n.276+16861T>C)
c.*220+5683A>G (n.*220+5683A>G)
c.299A>G (p.Asp100Gly)
c.326A>G (p.Asp109Gly)
c.1181A>G (p.Asp394Gly)
c.995A>G (p.Asp332Gly)
c.914A>G (p.Asp305Gly)
c.620A>G (p.Asp207Gly)
c.1001A>G (p.Asp334Gly)
2g.48688541T>GCA346748422GTF2A1L,LHCGR,STON1-GTF2A1Lc.1256A>C (p.Asp419Ala)
c.948-402A>C (n.948-402A>C)
c.3441+16861T>G (n.3441+16861T>G)
c.990A>C (p.Ter330Cys)
c.1175A>C (p.Asp392Ala)
c.276+16861T>G (n.276+16861T>G)
c.*220+5683A>C (n.*220+5683A>C)
c.299A>C (p.Asp100Ala)
c.326A>C (p.Asp109Ala)
c.1181A>C (p.Asp394Ala)
c.995A>C (p.Asp332Ala)
c.914A>C (p.Asp305Ala)
c.620A>C (p.Asp207Ala)
c.1001A>C (p.Asp334Ala)
2g.48688542C>ACA346748427GTF2A1L,LHCGR,STON1-GTF2A1Lc.1255G>T (p.Asp419Tyr)
c.948-403G>T (n.948-403G>T)
c.3441+16862C>A (n.3441+16862C>A)
c.989G>T (p.Ter330Leu)
c.1174G>T (p.Asp392Tyr)
c.276+16862C>A (n.276+16862C>A)
c.*220+5682G>T (n.*220+5682G>T)
c.298G>T (p.Asp100Tyr)
c.325G>T (p.Asp109Tyr)
c.1180G>T (p.Asp394Tyr)
c.994G>T (p.Asp332Tyr)
c.913G>T (p.Asp305Tyr)
c.619G>T (p.Asp207Tyr)
c.1000G>T (p.Asp334Tyr)
2g.48688542C>GCA346748426GTF2A1L,LHCGR,STON1-GTF2A1Lc.1255G>C (p.Asp419His)
c.948-403G>C (n.948-403G>C)
c.3441+16862C>G (n.3441+16862C>G)
c.989G>C (p.Ter330Ser)
c.1174G>C (p.Asp392His)
c.276+16862C>G (n.276+16862C>G)
c.*220+5682G>C (n.*220+5682G>C)
c.298G>C (p.Asp100His)
c.325G>C (p.Asp109His)
c.1180G>C (p.Asp394His)
c.994G>C (p.Asp332His)
c.913G>C (p.Asp305His)
c.619G>C (p.Asp207His)
c.1000G>C (p.Asp334His)
2g.48688542C>TCA346748424GTF2A1L,LHCGR,STON1-GTF2A1Lc.1255G>A (p.Asp419Asn)
c.948-403G>A (n.948-403G>A)
c.3441+16862C>T (n.3441+16862C>T)
c.989G>A (p.Ter330=)
c.1174G>A (p.Asp392Asn)
c.276+16862C>T (n.276+16862C>T)
c.*220+5682G>A (n.*220+5682G>A)
c.298G>A (p.Asp100Asn)
c.325G>A (p.Asp109Asn)
c.1180G>A (p.Asp394Asn)
c.994G>A (p.Asp332Asn)
c.913G>A (p.Asp305Asn)
c.619G>A (p.Asp207Asn)
c.1000G>A (p.Asp334Asn)
2g.48688543A>CCA346748428GTF2A1L,LHCGR,STON1-GTF2A1Lc.1254T>G (p.Val418=)
c.948-404T>G (n.948-404T>G)
c.3441+16863A>C (n.3441+16863A>C)
c.988T>G (p.Ter330Gly)
c.1173T>G (p.Val391=)
c.276+16863A>C (n.276+16863A>C)
c.*220+5681T>G (n.*220+5681T>G)
c.297T>G (p.Val99=)
c.324T>G (p.Val108=)
c.1179T>G (p.Val393=)
c.993T>G (p.Val331=)
c.912T>G (p.Val304=)
c.618T>G (p.Val206=)
c.999T>G (p.Val333=)
2g.48688543A>GCA346748430GTF2A1L,LHCGR,STON1-GTF2A1Lc.1254T>C (p.Val418=)
c.948-404T>C (n.948-404T>C)
c.3441+16863A>G (n.3441+16863A>G)
c.988T>C (p.Ter330Arg)
c.1173T>C (p.Val391=)
c.276+16863A>G (n.276+16863A>G)
c.*220+5681T>C (n.*220+5681T>C)
c.297T>C (p.Val99=)
c.324T>C (p.Val108=)
c.1179T>C (p.Val393=)
c.993T>C (p.Val331=)
c.912T>C (p.Val304=)
c.618T>C (p.Val206=)
c.999T>C (p.Val333=)
2g.48688543A>TCA346748432GTF2A1L,LHCGR,STON1-GTF2A1Lc.1254T>A (p.Val418=)
c.948-404T>A (n.948-404T>A)
c.3441+16863A>T (n.3441+16863A>T)
c.988T>A (p.Ter330Arg)
c.1173T>A (p.Val391=)
c.276+16863A>T (n.276+16863A>T)
c.*220+5681T>A (n.*220+5681T>A)
c.297T>A (p.Val99=)
c.324T>A (p.Val108=)
c.1179T>A (p.Val393=)
c.993T>A (p.Val331=)
c.912T>A (p.Val304=)
c.618T>A (p.Val206=)
c.999T>A (p.Val333=)
2g.48688544A=CA1248601179GTF2A1L,LHCGR,STON1-GTF2A1Lc.1253T= (p.Val418=)
c.948-405T= (n.948-405T=)
c.3441+16864A= (n.3441+16864A=)
c.987T= (p.Ser329=)
c.1172T= (p.Val391=)
c.276+16864A= (n.276+16864A=)
c.*220+5680T= (n.*220+5680T=)
c.296T= (p.Val99=)
c.323T= (p.Val108=)
c.1178T= (p.Val393=)
c.992T= (p.Val331=)
c.911T= (p.Val304=)
c.617T= (p.Val206=)
c.998T= (p.Val333=)
2g.48688544A>CCA1653058GTF2A1L,LHCGR,STON1-GTF2A1Lc.1253T>G (p.Val418Gly)
c.948-405T>G (n.948-405T>G)
c.3441+16864A>C (n.3441+16864A>C)
c.987T>G (p.Ser329Arg)
c.1172T>G (p.Val391Gly)
c.276+16864A>C (n.276+16864A>C)
c.*220+5680T>G (n.*220+5680T>G)
c.296T>G (p.Val99Gly)
c.323T>G (p.Val108Gly)
c.1178T>G (p.Val393Gly)
c.992T>G (p.Val331Gly)
c.911T>G (p.Val304Gly)
c.617T>G (p.Val206Gly)
c.998T>G (p.Val333Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688544A>GCA46753116GTF2A1L,LHCGR,STON1-GTF2A1Lc.1253T>C (p.Val418Ala)
c.948-405T>C (n.948-405T>C)
c.3441+16864A>G (n.3441+16864A>G)
c.987T>C (p.Ser329=)
c.1172T>C (p.Val391Ala)
c.276+16864A>G (n.276+16864A>G)
c.*220+5680T>C (n.*220+5680T>C)
c.296T>C (p.Val99Ala)
c.323T>C (p.Val108Ala)
c.1178T>C (p.Val393Ala)
c.992T>C (p.Val331Ala)
c.911T>C (p.Val304Ala)
c.617T>C (p.Val206Ala)
c.998T>C (p.Val333Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688544A>TCA346748436GTF2A1L,LHCGR,STON1-GTF2A1Lc.1253T>A (p.Val418Asp)
c.948-405T>A (n.948-405T>A)
c.3441+16864A>T (n.3441+16864A>T)
c.987T>A (p.Ser329Arg)
c.1172T>A (p.Val391Asp)
c.276+16864A>T (n.276+16864A>T)
c.*220+5680T>A (n.*220+5680T>A)
c.296T>A (p.Val99Asp)
c.323T>A (p.Val108Asp)
c.1178T>A (p.Val393Asp)
c.992T>A (p.Val331Asp)
c.911T>A (p.Val304Asp)
c.617T>A (p.Val206Asp)
c.998T>A (p.Val333Asp)
2g.48688545C>ACA346748438GTF2A1L,LHCGR,STON1-GTF2A1Lc.1252G>T (p.Val418Phe)
c.948-406G>T (n.948-406G>T)
c.3441+16865C>A (n.3441+16865C>A)
c.986G>T (p.Ser329Ile)
c.1171G>T (p.Val391Phe)
c.276+16865C>A (n.276+16865C>A)
c.*220+5679G>T (n.*220+5679G>T)
c.295G>T (p.Val99Phe)
c.322G>T (p.Val108Phe)
c.1177G>T (p.Val393Phe)
c.991G>T (p.Val331Phe)
c.910G>T (p.Val304Phe)
c.616G>T (p.Val206Phe)
c.997G>T (p.Val333Phe)
 dbSNP
2g.48688545C=CA1248601180GTF2A1L,LHCGR,STON1-GTF2A1Lc.1252G= (p.Val418=)
c.948-406G= (n.948-406G=)
c.3441+16865C= (n.3441+16865C=)
c.986G= (p.Ser329=)
c.1171G= (p.Val391=)
c.276+16865C= (n.276+16865C=)
c.*220+5679G= (n.*220+5679G=)
c.295G= (p.Val99=)
c.322G= (p.Val108=)
c.1177G= (p.Val393=)
c.991G= (p.Val331=)
c.910G= (p.Val304=)
c.616G= (p.Val206=)
c.997G= (p.Val333=)
2g.48688545C>GCA346748440GTF2A1L,LHCGR,STON1-GTF2A1Lc.1252G>C (p.Val418Leu)
c.948-406G>C (n.948-406G>C)
c.3441+16865C>G (n.3441+16865C>G)
c.986G>C (p.Ser329Thr)
c.1171G>C (p.Val391Leu)
c.276+16865C>G (n.276+16865C>G)
c.*220+5679G>C (n.*220+5679G>C)
c.295G>C (p.Val99Leu)
c.322G>C (p.Val108Leu)
c.1177G>C (p.Val393Leu)
c.991G>C (p.Val331Leu)
c.910G>C (p.Val304Leu)
c.616G>C (p.Val206Leu)
c.997G>C (p.Val333Leu)
2g.48688545C>TCA346748441GTF2A1L,LHCGR,STON1-GTF2A1Lc.1252G>A (p.Val418Ile)
c.948-406G>A (n.948-406G>A)
c.3441+16865C>T (n.3441+16865C>T)
c.986G>A (p.Ser329Asn)
c.1171G>A (p.Val391Ile)
c.276+16865C>T (n.276+16865C>T)
c.*220+5679G>A (n.*220+5679G>A)
c.295G>A (p.Val99Ile)
c.322G>A (p.Val108Ile)
c.1177G>A (p.Val393Ile)
c.991G>A (p.Val331Ile)
c.910G>A (p.Val304Ile)
c.616G>A (p.Val206Ile)
c.997G>A (p.Val333Ile)
 gnomAD v4
2g.48688546T>ACA346748444GTF2A1L,LHCGR,STON1-GTF2A1Lc.1251A>T (p.Ser417=)
c.948-407A>T (n.948-407A>T)
c.3441+16866T>A (n.3441+16866T>A)
c.985A>T (p.Ser329Cys)
c.1170A>T (p.Ser390=)
c.276+16866T>A (n.276+16866T>A)
c.*220+5678A>T (n.*220+5678A>T)
c.294A>T (p.Ser98=)
c.321A>T (p.Ser107=)
c.1176A>T (p.Ser392=)
c.990A>T (p.Ser330=)
c.909A>T (p.Ser303=)
c.615A>T (p.Ser205=)
c.996A>T (p.Ser332=)
2g.48688546T>CCA346748446GTF2A1L,LHCGR,STON1-GTF2A1Lc.1251A>G (p.Ser417=)
c.948-407A>G (n.948-407A>G)
c.3441+16866T>C (n.3441+16866T>C)
c.985A>G (p.Ser329Gly)
c.1170A>G (p.Ser390=)
c.276+16866T>C (n.276+16866T>C)
c.*220+5678A>G (n.*220+5678A>G)
c.294A>G (p.Ser98=)
c.321A>G (p.Ser107=)
c.1176A>G (p.Ser392=)
c.990A>G (p.Ser330=)
c.909A>G (p.Ser303=)
c.615A>G (p.Ser205=)
c.996A>G (p.Ser332=)
2g.48688546T>GCA346748449GTF2A1L,LHCGR,STON1-GTF2A1Lc.1251A>C (p.Ser417=)
c.948-407A>C (n.948-407A>C)
c.3441+16866T>G (n.3441+16866T>G)
c.985A>C (p.Ser329Arg)
c.1170A>C (p.Ser390=)
c.276+16866T>G (n.276+16866T>G)
c.*220+5678A>C (n.*220+5678A>C)
c.294A>C (p.Ser98=)
c.321A>C (p.Ser107=)
c.1176A>C (p.Ser392=)
c.990A>C (p.Ser330=)
c.909A>C (p.Ser303=)
c.615A>C (p.Ser205=)
c.996A>C (p.Ser332=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688546T=CA1248601181GTF2A1L,LHCGR,STON1-GTF2A1Lc.1251A= (p.Ser417=)
c.948-407A= (n.948-407A=)
c.3441+16866T= (n.3441+16866T=)
c.985A= (p.Ser329=)
c.1170A= (p.Ser390=)
c.276+16866T= (n.276+16866T=)
c.*220+5678A= (n.*220+5678A=)
c.294A= (p.Ser98=)
c.321A= (p.Ser107=)
c.1176A= (p.Ser392=)
c.990A= (p.Ser330=)
c.909A= (p.Ser303=)
c.615A= (p.Ser205=)
c.996A= (p.Ser332=)
2g.48688547G>ACA346748455GTF2A1L,LHCGR,STON1-GTF2A1Lc.1250C>T (p.Ser417Leu)
c.948-408C>T (n.948-408C>T)
c.3441+16867G>A (n.3441+16867G>A)
c.984C>T (p.Leu328=)
c.1169C>T (p.Ser390Leu)
c.276+16867G>A (n.276+16867G>A)
c.*220+5677C>T (n.*220+5677C>T)
c.293C>T (p.Ser98Leu)
c.320C>T (p.Ser107Leu)
c.1175C>T (p.Ser392Leu)
c.989C>T (p.Ser330Leu)
c.908C>T (p.Ser303Leu)
c.614C>T (p.Ser205Leu)
c.995C>T (p.Ser332Leu)
2g.48688547G>CCA346748453GTF2A1L,LHCGR,STON1-GTF2A1Lc.1250C>G (p.Ser417Ter)
c.948-408C>G (n.948-408C>G)
c.3441+16867G>C (n.3441+16867G>C)
c.984C>G (p.Leu328=)
c.1169C>G (p.Ser390Ter)
c.276+16867G>C (n.276+16867G>C)
c.*220+5677C>G (n.*220+5677C>G)
c.293C>G (p.Ser98Ter)
c.320C>G (p.Ser107Ter)
c.1175C>G (p.Ser392Ter)
c.989C>G (p.Ser330Ter)
c.908C>G (p.Ser303Ter)
c.614C>G (p.Ser205Ter)
c.995C>G (p.Ser332Ter)
2g.48688547G>TCA346748452GTF2A1L,LHCGR,STON1-GTF2A1Lc.1250C>A (p.Ser417Ter)
c.948-408C>A (n.948-408C>A)
c.3441+16867G>T (n.3441+16867G>T)
c.984C>A (p.Leu328=)
c.1169C>A (p.Ser390Ter)
c.276+16867G>T (n.276+16867G>T)
c.*220+5677C>A (n.*220+5677C>A)
c.293C>A (p.Ser98Ter)
c.320C>A (p.Ser107Ter)
c.1175C>A (p.Ser392Ter)
c.989C>A (p.Ser330Ter)
c.908C>A (p.Ser303Ter)
c.614C>A (p.Ser205Ter)
c.995C>A (p.Ser332Ter)
2g.48688548A=CA1248601182GTF2A1L,LHCGR,STON1-GTF2A1Lc.1249T= (p.Ser417=)
c.948-409T= (n.948-409T=)
c.3441+16868A= (n.3441+16868A=)
c.983T= (p.Leu328=)
c.1168T= (p.Ser390=)
c.276+16868A= (n.276+16868A=)
c.*220+5676T= (n.*220+5676T=)
c.292T= (p.Ser98=)
c.319T= (p.Ser107=)
c.1174T= (p.Ser392=)
c.988T= (p.Ser330=)
c.907T= (p.Ser303=)
c.613T= (p.Ser205=)
c.994T= (p.Ser332=)
2g.48688548A>CCA346748458GTF2A1L,LHCGR,STON1-GTF2A1Lc.1249T>G (p.Ser417Ala)
c.948-409T>G (n.948-409T>G)
c.3441+16868A>C (n.3441+16868A>C)
c.983T>G (p.Leu328Arg)
c.1168T>G (p.Ser390Ala)
c.276+16868A>C (n.276+16868A>C)
c.*220+5676T>G (n.*220+5676T>G)
c.292T>G (p.Ser98Ala)
c.319T>G (p.Ser107Ala)
c.1174T>G (p.Ser392Ala)
c.988T>G (p.Ser330Ala)
c.907T>G (p.Ser303Ala)
c.613T>G (p.Ser205Ala)
c.994T>G (p.Ser332Ala)
2g.48688548A>GCA46753120GTF2A1L,LHCGR,STON1-GTF2A1Lc.1249T>C (p.Ser417Pro)
c.948-409T>C (n.948-409T>C)
c.3441+16868A>G (n.3441+16868A>G)
c.983T>C (p.Leu328Pro)
c.1168T>C (p.Ser390Pro)
c.276+16868A>G (n.276+16868A>G)
c.*220+5676T>C (n.*220+5676T>C)
c.292T>C (p.Ser98Pro)
c.319T>C (p.Ser107Pro)
c.1174T>C (p.Ser392Pro)
c.988T>C (p.Ser330Pro)
c.907T>C (p.Ser303Pro)
c.613T>C (p.Ser205Pro)
c.994T>C (p.Ser332Pro)
 dbSNP
2g.48688548A>TCA346748461GTF2A1L,LHCGR,STON1-GTF2A1Lc.1249T>A (p.Ser417Thr)
c.948-409T>A (n.948-409T>A)
c.3441+16868A>T (n.3441+16868A>T)
c.983T>A (p.Leu328His)
c.1168T>A (p.Ser390Thr)
c.276+16868A>T (n.276+16868A>T)
c.*220+5676T>A (n.*220+5676T>A)
c.292T>A (p.Ser98Thr)
c.319T>A (p.Ser107Thr)
c.1174T>A (p.Ser392Thr)
c.988T>A (p.Ser330Thr)
c.907T>A (p.Ser303Thr)
c.613T>A (p.Ser205Thr)
c.994T>A (p.Ser332Thr)
2g.48688549G>ACA346748463GTF2A1L,LHCGR,STON1-GTF2A1Lc.1248C>T (p.Ala416=)
c.948-410C>T (n.948-410C>T)
c.3441+16869G>A (n.3441+16869G>A)
c.982C>T (p.Leu328Phe)
c.1167C>T (p.Ala389=)
c.276+16869G>A (n.276+16869G>A)
c.*220+5675C>T (n.*220+5675C>T)
c.291C>T (p.Ala97=)
c.318C>T (p.Ala106=)
c.1173C>T (p.Ala391=)
c.987C>T (p.Ala329=)
c.906C>T (p.Ala302=)
c.612C>T (p.Ala204=)
c.993C>T (p.Ala331=)
2g.48688549G>CCA346748465GTF2A1L,LHCGR,STON1-GTF2A1Lc.1248C>G (p.Ala416=)
c.948-410C>G (n.948-410C>G)
c.3441+16869G>C (n.3441+16869G>C)
c.982C>G (p.Leu328Val)
c.1167C>G (p.Ala389=)
c.276+16869G>C (n.276+16869G>C)
c.*220+5675C>G (n.*220+5675C>G)
c.291C>G (p.Ala97=)
c.318C>G (p.Ala106=)
c.1173C>G (p.Ala391=)
c.987C>G (p.Ala329=)
c.906C>G (p.Ala302=)
c.612C>G (p.Ala204=)
c.993C>G (p.Ala331=)
2g.48688549G=CA1248601183GTF2A1L,LHCGR,STON1-GTF2A1Lc.1248C= (p.Ala416=)
c.948-410C= (n.948-410C=)
c.3441+16869G= (n.3441+16869G=)
c.982C= (p.Leu328=)
c.1167C= (p.Ala389=)
c.276+16869G= (n.276+16869G=)
c.*220+5675C= (n.*220+5675C=)
c.291C= (p.Ala97=)
c.318C= (p.Ala106=)
c.1173C= (p.Ala391=)
c.987C= (p.Ala329=)
c.906C= (p.Ala302=)
c.612C= (p.Ala204=)
c.993C= (p.Ala331=)
2g.48688549G>TCA346748467GTF2A1L,LHCGR,STON1-GTF2A1Lc.1248C>A (p.Ala416=)
c.948-410C>A (n.948-410C>A)
c.3441+16869G>T (n.3441+16869G>T)
c.982C>A (p.Leu328Ile)
c.1167C>A (p.Ala389=)
c.276+16869G>T (n.276+16869G>T)
c.*220+5675C>A (n.*220+5675C>A)
c.291C>A (p.Ala97=)
c.318C>A (p.Ala106=)
c.1173C>A (p.Ala391=)
c.987C>A (p.Ala329=)
c.906C>A (p.Ala302=)
c.612C>A (p.Ala204=)
c.993C>A (p.Ala331=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688550G>ACA346748469GTF2A1L,LHCGR,STON1-GTF2A1Lc.1247C>T (p.Ala416Val)
c.948-411C>T (n.948-411C>T)
c.3441+16870G>A (n.3441+16870G>A)
c.981C>T (p.Ser327=)
c.1166C>T (p.Ala389Val)
c.276+16870G>A (n.276+16870G>A)
c.*220+5674C>T (n.*220+5674C>T)
c.290C>T (p.Ala97Val)
c.317C>T (p.Ala106Val)
c.1172C>T (p.Ala391Val)
c.986C>T (p.Ala329Val)
c.905C>T (p.Ala302Val)
c.611C>T (p.Ala204Val)
c.992C>T (p.Ala331Val)
2g.48688550G>CCA346748470GTF2A1L,LHCGR,STON1-GTF2A1Lc.1247C>G (p.Ala416Gly)
c.948-411C>G (n.948-411C>G)
c.3441+16870G>C (n.3441+16870G>C)
c.981C>G (p.Ser327Arg)
c.1166C>G (p.Ala389Gly)
c.276+16870G>C (n.276+16870G>C)
c.*220+5674C>G (n.*220+5674C>G)
c.290C>G (p.Ala97Gly)
c.317C>G (p.Ala106Gly)
c.1172C>G (p.Ala391Gly)
c.986C>G (p.Ala329Gly)
c.905C>G (p.Ala302Gly)
c.611C>G (p.Ala204Gly)
c.992C>G (p.Ala331Gly)
2g.48688550G>TCA346748471GTF2A1L,LHCGR,STON1-GTF2A1Lc.1247C>A (p.Ala416Asp)
c.948-411C>A (n.948-411C>A)
c.3441+16870G>T (n.3441+16870G>T)
c.981C>A (p.Ser327Arg)
c.1166C>A (p.Ala389Asp)
c.276+16870G>T (n.276+16870G>T)
c.*220+5674C>A (n.*220+5674C>A)
c.290C>A (p.Ala97Asp)
c.317C>A (p.Ala106Asp)
c.1172C>A (p.Ala391Asp)
c.986C>A (p.Ala329Asp)
c.905C>A (p.Ala302Asp)
c.611C>A (p.Ala204Asp)
c.992C>A (p.Ala331Asp)
2g.48688551C>ACA346748473GTF2A1L,LHCGR,STON1-GTF2A1Lc.1246G>T (p.Ala416Ser)
c.948-412G>T (n.948-412G>T)
c.3441+16871C>A (n.3441+16871C>A)
c.980G>T (p.Ser327Ile)
c.1165G>T (p.Ala389Ser)
c.276+16871C>A (n.276+16871C>A)
c.*220+5673G>T (n.*220+5673G>T)
c.289G>T (p.Ala97Ser)
c.316G>T (p.Ala106Ser)
c.1171G>T (p.Ala391Ser)
c.985G>T (p.Ala329Ser)
c.904G>T (p.Ala302Ser)
c.610G>T (p.Ala204Ser)
c.991G>T (p.Ala331Ser)
2g.48688551C>GCA346748475GTF2A1L,LHCGR,STON1-GTF2A1Lc.1246G>C (p.Ala416Pro)
c.948-412G>C (n.948-412G>C)
c.3441+16871C>G (n.3441+16871C>G)
c.980G>C (p.Ser327Thr)
c.1165G>C (p.Ala389Pro)
c.276+16871C>G (n.276+16871C>G)
c.*220+5673G>C (n.*220+5673G>C)
c.289G>C (p.Ala97Pro)
c.316G>C (p.Ala106Pro)
c.1171G>C (p.Ala391Pro)
c.985G>C (p.Ala329Pro)
c.904G>C (p.Ala302Pro)
c.610G>C (p.Ala204Pro)
c.991G>C (p.Ala331Pro)
 gnomAD v4
2g.48688551C>TCA346748477GTF2A1L,LHCGR,STON1-GTF2A1Lc.1246G>A (p.Ala416Thr)
c.948-412G>A (n.948-412G>A)
c.3441+16871C>T (n.3441+16871C>T)
c.980G>A (p.Ser327Asn)
c.1165G>A (p.Ala389Thr)
c.276+16871C>T (n.276+16871C>T)
c.*220+5673G>A (n.*220+5673G>A)
c.289G>A (p.Ala97Thr)
c.316G>A (p.Ala106Thr)
c.1171G>A (p.Ala391Thr)
c.985G>A (p.Ala329Thr)
c.904G>A (p.Ala302Thr)
c.610G>A (p.Ala204Thr)
c.991G>A (p.Ala331Thr)
2g.48688552T>ACA346748483GTF2A1L,LHCGR,STON1-GTF2A1Lc.1245A>T (p.Ile415=)
c.948-413A>T (n.948-413A>T)
c.3441+16872T>A (n.3441+16872T>A)
c.979A>T (p.Ser327Cys)
c.1164A>T (p.Ile388=)
c.276+16872T>A (n.276+16872T>A)
c.*220+5672A>T (n.*220+5672A>T)
c.288A>T (p.Ile96=)
c.315A>T (p.Ile105=)
c.1170A>T (p.Ile390=)
c.984A>T (p.Ile328=)
c.903A>T (p.Ile301=)
c.609A>T (p.Ile203=)
c.990A>T (p.Ile330=)
2g.48688552T>CCA346748481GTF2A1L,LHCGR,STON1-GTF2A1Lc.1245A>G (p.Ile415Met)
c.948-413A>G (n.948-413A>G)
c.3441+16872T>C (n.3441+16872T>C)
c.979A>G (p.Ser327Gly)
c.1164A>G (p.Ile388Met)
c.276+16872T>C (n.276+16872T>C)
c.*220+5672A>G (n.*220+5672A>G)
c.288A>G (p.Ile96Met)
c.315A>G (p.Ile105Met)
c.1170A>G (p.Ile390Met)
c.984A>G (p.Ile328Met)
c.903A>G (p.Ile301Met)
c.609A>G (p.Ile203Met)
c.990A>G (p.Ile330Met)
2g.48688552T>GCA346748479GTF2A1L,LHCGR,STON1-GTF2A1Lc.1245A>C (p.Ile415=)
c.948-413A>C (n.948-413A>C)
c.3441+16872T>G (n.3441+16872T>G)
c.979A>C (p.Ser327Arg)
c.1164A>C (p.Ile388=)
c.276+16872T>G (n.276+16872T>G)
c.*220+5672A>C (n.*220+5672A>C)
c.288A>C (p.Ile96=)
c.315A>C (p.Ile105=)
c.1170A>C (p.Ile390=)
c.984A>C (p.Ile328=)
c.903A>C (p.Ile301=)
c.609A>C (p.Ile203=)
c.990A>C (p.Ile330=)
2g.48688553A=CA1248601184GTF2A1L,LHCGR,STON1-GTF2A1Lc.1244T= (p.Ile415=)
c.948-414T= (n.948-414T=)
c.3441+16873A= (n.3441+16873A=)
c.978T= (p.His326=)
c.1163T= (p.Ile388=)
c.276+16873A= (n.276+16873A=)
c.*220+5671T= (n.*220+5671T=)
c.287T= (p.Ile96=)
c.314T= (p.Ile105=)
c.1169T= (p.Ile390=)
c.983T= (p.Ile328=)
c.902T= (p.Ile301=)
c.608T= (p.Ile203=)
c.989T= (p.Ile330=)
2g.48688553A>CCA346748484GTF2A1L,LHCGR,STON1-GTF2A1Lc.1244T>G (p.Ile415Arg)
c.948-414T>G (n.948-414T>G)
c.3441+16873A>C (n.3441+16873A>C)
c.978T>G (p.His326Gln)
c.1163T>G (p.Ile388Arg)
c.276+16873A>C (n.276+16873A>C)
c.*220+5671T>G (n.*220+5671T>G)
c.287T>G (p.Ile96Arg)
c.314T>G (p.Ile105Arg)
c.1169T>G (p.Ile390Arg)
c.983T>G (p.Ile328Arg)
c.902T>G (p.Ile301Arg)
c.608T>G (p.Ile203Arg)
c.989T>G (p.Ile330Arg)
2g.48688553A>GCA346748485GTF2A1L,LHCGR,STON1-GTF2A1Lc.1244T>C (p.Ile415Thr)
c.948-414T>C (n.948-414T>C)
c.3441+16873A>G (n.3441+16873A>G)
c.978T>C (p.His326=)
c.1163T>C (p.Ile388Thr)
c.276+16873A>G (n.276+16873A>G)
c.*220+5671T>C (n.*220+5671T>C)
c.287T>C (p.Ile96Thr)
c.314T>C (p.Ile105Thr)
c.1169T>C (p.Ile390Thr)
c.983T>C (p.Ile328Thr)
c.902T>C (p.Ile301Thr)
c.608T>C (p.Ile203Thr)
c.989T>C (p.Ile330Thr)
2g.48688553A>TCA346748487GTF2A1L,LHCGR,STON1-GTF2A1Lc.1244T>A (p.Ile415Lys)
c.948-414T>A (n.948-414T>A)
c.3441+16873A>T (n.3441+16873A>T)
c.978T>A (p.His326Gln)
c.1163T>A (p.Ile388Lys)
c.276+16873A>T (n.276+16873A>T)
c.*220+5671T>A (n.*220+5671T>A)
c.287T>A (p.Ile96Lys)
c.314T>A (p.Ile105Lys)
c.1169T>A (p.Ile390Lys)
c.983T>A (p.Ile328Lys)
c.902T>A (p.Ile301Lys)
c.608T>A (p.Ile203Lys)
c.989T>A (p.Ile330Lys)
2g.48688554T>ACA346748489GTF2A1L,LHCGR,STON1-GTF2A1Lc.1243A>T (p.Ile415Leu)
c.948-415A>T (n.948-415A>T)
c.3441+16874T>A (n.3441+16874T>A)
c.977A>T (p.His326Leu)
c.1162A>T (p.Ile388Leu)
c.276+16874T>A (n.276+16874T>A)
c.*220+5670A>T (n.*220+5670A>T)
c.286A>T (p.Ile96Leu)
c.313A>T (p.Ile105Leu)
c.1168A>T (p.Ile390Leu)
c.982A>T (p.Ile328Leu)
c.901A>T (p.Ile301Leu)
c.607A>T (p.Ile203Leu)
c.988A>T (p.Ile330Leu)
2g.48688554T>CCA346748492GTF2A1L,LHCGR,STON1-GTF2A1Lc.1243A>G (p.Ile415Val)
c.948-415A>G (n.948-415A>G)
c.3441+16874T>C (n.3441+16874T>C)
c.977A>G (p.His326Arg)
c.1162A>G (p.Ile388Val)
c.276+16874T>C (n.276+16874T>C)
c.*220+5670A>G (n.*220+5670A>G)
c.286A>G (p.Ile96Val)
c.313A>G (p.Ile105Val)
c.1168A>G (p.Ile390Val)
c.982A>G (p.Ile328Val)
c.901A>G (p.Ile301Val)
c.607A>G (p.Ile203Val)
c.988A>G (p.Ile330Val)
2g.48688554T>GCA346748494GTF2A1L,LHCGR,STON1-GTF2A1Lc.1243A>C (p.Ile415Leu)
c.948-415A>C (n.948-415A>C)
c.3441+16874T>G (n.3441+16874T>G)
c.977A>C (p.His326Pro)
c.1162A>C (p.Ile388Leu)
c.276+16874T>G (n.276+16874T>G)
c.*220+5670A>C (n.*220+5670A>C)
c.286A>C (p.Ile96Leu)
c.313A>C (p.Ile105Leu)
c.1168A>C (p.Ile390Leu)
c.982A>C (p.Ile328Leu)
c.901A>C (p.Ile301Leu)
c.607A>C (p.Ile203Leu)
c.988A>C (p.Ile330Leu)
2g.48688556_48688600dupCA1248601185GTF2A1L,LHCGR,STON1-GTF2A1Lc.1199_1243dup (p.Leu414_Ile415insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.948-459_948-415dup (n.948-459_948-415dup)
c.3441+16876_3441+16920dup (n.3441+16876_3441+16920dup)
c.948-15_977dup
c.1118_1162dup (p.Leu387_Ile388insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.276+16876_276+16920dup (n.276+16876_276+16920dup)
c.*220+5626_*220+5670dup (n.*220+5626_*220+5670dup)
c.242_286dup (p.Leu95_Ile96insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.269_313dup (p.Leu104_Ile105insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.1124_1168dup (p.Leu389_Ile390insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.938_982dup (p.Leu327_Ile328insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.857_901dup (p.Leu300_Ile301insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.563_607dup (p.Leu202_Ile203insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
c.944_988dup (p.Leu329_Ile330insAsnLeuSerPheAlaAspPheCysMetGlyLeuTyrLeuLeuLeu)
 dbSNP
2g.48688555G>ACA346748502GTF2A1L,LHCGR,STON1-GTF2A1Lc.1242C>T (p.Leu414=)
c.948-416C>T (n.948-416C>T)
c.3441+16875G>A (n.3441+16875G>A)
c.976C>T (p.His326Tyr)
c.1161C>T (p.Leu387=)
c.276+16875G>A (n.276+16875G>A)
c.*220+5669C>T (n.*220+5669C>T)
c.285C>T (p.Leu95=)
c.312C>T (p.Leu104=)
c.1167C>T (p.Leu389=)
c.981C>T (p.Leu327=)
c.900C>T (p.Leu300=)
c.606C>T (p.Leu202=)
c.987C>T (p.Leu329=)
2g.48688555G>CCA346748500GTF2A1L,LHCGR,STON1-GTF2A1Lc.1242C>G (p.Leu414=)
c.948-416C>G (n.948-416C>G)
c.3441+16875G>C (n.3441+16875G>C)
c.976C>G (p.His326Asp)
c.1161C>G (p.Leu387=)
c.276+16875G>C (n.276+16875G>C)
c.*220+5669C>G (n.*220+5669C>G)
c.285C>G (p.Leu95=)
c.312C>G (p.Leu104=)
c.1167C>G (p.Leu389=)
c.981C>G (p.Leu327=)
c.900C>G (p.Leu300=)
c.606C>G (p.Leu202=)
c.987C>G (p.Leu329=)
2g.48688555G>TCA346748498GTF2A1L,LHCGR,STON1-GTF2A1Lc.1242C>A (p.Leu414=)
c.948-416C>A (n.948-416C>A)
c.3441+16875G>T (n.3441+16875G>T)
c.976C>A (p.His326Asn)
c.1161C>A (p.Leu387=)
c.276+16875G>T (n.276+16875G>T)
c.*220+5669C>A (n.*220+5669C>A)
c.285C>A (p.Leu95=)
c.312C>A (p.Leu104=)
c.1167C>A (p.Leu389=)
c.981C>A (p.Leu327=)
c.900C>A (p.Leu300=)
c.606C>A (p.Leu202=)
c.987C>A (p.Leu329=)
 dbSNP
2g.48688556A>CCA346748504GTF2A1L,LHCGR,STON1-GTF2A1Lc.1241T>G (p.Leu414Arg)
c.948-417T>G (n.948-417T>G)
c.3441+16876A>C (n.3441+16876A>C)
c.975T>G (p.Ala325=)
c.1160T>G (p.Leu387Arg)
c.276+16876A>C (n.276+16876A>C)
c.*220+5668T>G (n.*220+5668T>G)
c.284T>G (p.Leu95Arg)
c.311T>G (p.Leu104Arg)
c.1166T>G (p.Leu389Arg)
c.980T>G (p.Leu327Arg)
c.899T>G (p.Leu300Arg)
c.605T>G (p.Leu202Arg)
c.986T>G (p.Leu329Arg)
2g.48688556A>GCA346748507GTF2A1L,LHCGR,STON1-GTF2A1Lc.1241T>C (p.Leu414Pro)
c.948-417T>C (n.948-417T>C)
c.3441+16876A>G (n.3441+16876A>G)
c.975T>C (p.Ala325=)
c.1160T>C (p.Leu387Pro)
c.276+16876A>G (n.276+16876A>G)
c.*220+5668T>C (n.*220+5668T>C)
c.284T>C (p.Leu95Pro)
c.311T>C (p.Leu104Pro)
c.1166T>C (p.Leu389Pro)
c.980T>C (p.Leu327Pro)
c.899T>C (p.Leu300Pro)
c.605T>C (p.Leu202Pro)
c.986T>C (p.Leu329Pro)
 gnomAD v4
2g.48688556A>TCA346748509GTF2A1L,LHCGR,STON1-GTF2A1Lc.1241T>A (p.Leu414His)
c.948-417T>A (n.948-417T>A)
c.3441+16876A>T (n.3441+16876A>T)
c.975T>A (p.Ala325=)
c.1160T>A (p.Leu387His)
c.276+16876A>T (n.276+16876A>T)
c.*220+5668T>A (n.*220+5668T>A)
c.284T>A (p.Leu95His)
c.311T>A (p.Leu104His)
c.1166T>A (p.Leu389His)
c.980T>A (p.Leu327His)
c.899T>A (p.Leu300His)
c.605T>A (p.Leu202His)
c.986T>A (p.Leu329His)
2g.48688557G>ACA346748512GTF2A1L,LHCGR,STON1-GTF2A1Lc.1240C>T (p.Leu414Phe)
c.948-418C>T (n.948-418C>T)
c.3441+16877G>A (n.3441+16877G>A)
c.974C>T (p.Ala325Val)
c.1159C>T (p.Leu387Phe)
c.276+16877G>A (n.276+16877G>A)
c.*220+5667C>T (n.*220+5667C>T)
c.283C>T (p.Leu95Phe)
c.310C>T (p.Leu104Phe)
c.1165C>T (p.Leu389Phe)
c.979C>T (p.Leu327Phe)
c.898C>T (p.Leu300Phe)
c.604C>T (p.Leu202Phe)
c.985C>T (p.Leu329Phe)
2g.48688557G>CCA346748513GTF2A1L,LHCGR,STON1-GTF2A1Lc.1240C>G (p.Leu414Val)
c.948-418C>G (n.948-418C>G)
c.3441+16877G>C (n.3441+16877G>C)
c.974C>G (p.Ala325Gly)
c.1159C>G (p.Leu387Val)
c.276+16877G>C (n.276+16877G>C)
c.*220+5667C>G (n.*220+5667C>G)
c.283C>G (p.Leu95Val)
c.310C>G (p.Leu104Val)
c.1165C>G (p.Leu389Val)
c.979C>G (p.Leu327Val)
c.898C>G (p.Leu300Val)
c.604C>G (p.Leu202Val)
c.985C>G (p.Leu329Val)
2g.48688557G>TCA346748515GTF2A1L,LHCGR,STON1-GTF2A1Lc.1240C>A (p.Leu414Ile)
c.948-418C>A (n.948-418C>A)
c.3441+16877G>T (n.3441+16877G>T)
c.974C>A (p.Ala325Asp)
c.1159C>A (p.Leu387Ile)
c.276+16877G>T (n.276+16877G>T)
c.*220+5667C>A (n.*220+5667C>A)
c.283C>A (p.Leu95Ile)
c.310C>A (p.Leu104Ile)
c.1165C>A (p.Leu389Ile)
c.979C>A (p.Leu327Ile)
c.898C>A (p.Leu300Ile)
c.604C>A (p.Leu202Ile)
c.985C>A (p.Leu329Ile)
2g.48688558C>ACA1653059GTF2A1L,LHCGR,STON1-GTF2A1Lc.1239G>T (p.Leu413=)
c.948-419G>T (n.948-419G>T)
c.3441+16878C>A (n.3441+16878C>A)
c.973G>T (p.Ala325Ser)
c.1158G>T (p.Leu386=)
c.276+16878C>A (n.276+16878C>A)
c.*220+5666G>T (n.*220+5666G>T)
c.282G>T (p.Leu94=)
c.309G>T (p.Leu103=)
c.1164G>T (p.Leu388=)
c.978G>T (p.Leu326=)
c.897G>T (p.Leu299=)
c.603G>T (p.Leu201=)
c.984G>T (p.Leu328=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.48688558C=CA1248601186GTF2A1L,LHCGR,STON1-GTF2A1Lc.1239G= (p.Leu413=)
c.948-419G= (n.948-419G=)
c.3441+16878C= (n.3441+16878C=)
c.973G= (p.Ala325=)
c.1158G= (p.Leu386=)
c.276+16878C= (n.276+16878C=)
c.*220+5666G= (n.*220+5666G=)
c.282G= (p.Leu94=)
c.309G= (p.Leu103=)
c.1164G= (p.Leu388=)
c.978G= (p.Leu326=)
c.897G= (p.Leu299=)
c.603G= (p.Leu201=)
c.984G= (p.Leu328=)
2g.48688558C>GCA346748520GTF2A1L,LHCGR,STON1-GTF2A1Lc.1239G>C (p.Leu413=)
c.948-419G>C (n.948-419G>C)
c.3441+16878C>G (n.3441+16878C>G)
c.973G>C (p.Ala325Pro)
c.1158G>C (p.Leu386=)
c.276+16878C>G (n.276+16878C>G)
c.*220+5666G>C (n.*220+5666G>C)
c.282G>C (p.Leu94=)
c.309G>C (p.Leu103=)
c.1164G>C (p.Leu388=)
c.978G>C (p.Leu326=)
c.897G>C (p.Leu299=)
c.603G>C (p.Leu201=)
c.984G>C (p.Leu328=)
2g.48688558C>TCA346748518GTF2A1L,LHCGR,STON1-GTF2A1Lc.1239G>A (p.Leu413=)
c.948-419G>A (n.948-419G>A)
c.3441+16878C>T (n.3441+16878C>T)
c.973G>A (p.Ala325Thr)
c.1158G>A (p.Leu386=)
c.276+16878C>T (n.276+16878C>T)
c.*220+5666G>A (n.*220+5666G>A)
c.282G>A (p.Leu94=)
c.309G>A (p.Leu103=)
c.1164G>A (p.Leu388=)
c.978G>A (p.Leu326=)
c.897G>A (p.Leu299=)
c.603G>A (p.Leu201=)
c.984G>A (p.Leu328=)
2g.48688559A>CCA346748522GTF2A1L,LHCGR,STON1-GTF2A1Lc.1238T>G (p.Leu413Arg)
c.948-420T>G (n.948-420T>G)
c.3441+16879A>C (n.3441+16879A>C)
c.972T>G (p.Ala324=)
c.1157T>G (p.Leu386Arg)
c.276+16879A>C (n.276+16879A>C)
c.*220+5665T>G (n.*220+5665T>G)
c.281T>G (p.Leu94Arg)
c.308T>G (p.Leu103Arg)
c.1163T>G (p.Leu388Arg)
c.977T>G (p.Leu326Arg)
c.896T>G (p.Leu299Arg)
c.602T>G (p.Leu201Arg)
c.983T>G (p.Leu328Arg)
2g.48688559A>GCA346748525GTF2A1L,LHCGR,STON1-GTF2A1Lc.1238T>C (p.Leu413Pro)
c.948-420T>C (n.948-420T>C)
c.3441+16879A>G (n.3441+16879A>G)
c.972T>C (p.Ala324=)
c.1157T>C (p.Leu386Pro)
c.276+16879A>G (n.276+16879A>G)
c.*220+5665T>C (n.*220+5665T>C)
c.281T>C (p.Leu94Pro)
c.308T>C (p.Leu103Pro)
c.1163T>C (p.Leu388Pro)
c.977T>C (p.Leu326Pro)
c.896T>C (p.Leu299Pro)
c.602T>C (p.Leu201Pro)
c.983T>C (p.Leu328Pro)
2g.48688559A>TCA346748528GTF2A1L,LHCGR,STON1-GTF2A1Lc.1238T>A (p.Leu413Gln)
c.948-420T>A (n.948-420T>A)
c.3441+16879A>T (n.3441+16879A>T)
c.972T>A (p.Ala324=)
c.1157T>A (p.Leu386Gln)
c.276+16879A>T (n.276+16879A>T)
c.*220+5665T>A (n.*220+5665T>A)
c.281T>A (p.Leu94Gln)
c.308T>A (p.Leu103Gln)
c.1163T>A (p.Leu388Gln)
c.977T>A (p.Leu326Gln)
c.896T>A (p.Leu299Gln)
c.602T>A (p.Leu201Gln)
c.983T>A (p.Leu328Gln)
2g.48688560G>ACA346748534GTF2A1L,LHCGR,STON1-GTF2A1Lc.1237C>T (p.Leu413=)
c.948-421C>T (n.948-421C>T)
c.3441+16880G>A (n.3441+16880G>A)
c.971C>T (p.Ala324Val)
c.1156C>T (p.Leu386=)
c.276+16880G>A (n.276+16880G>A)
c.*220+5664C>T (n.*220+5664C>T)
c.280C>T (p.Leu94=)
c.307C>T (p.Leu103=)
c.1162C>T (p.Leu388=)
c.976C>T (p.Leu326=)
c.895C>T (p.Leu299=)
c.601C>T (p.Leu201=)
c.982C>T (p.Leu328=)
2g.48688560G>CCA346748537GTF2A1L,LHCGR,STON1-GTF2A1Lc.1237C>G (p.Leu413Val)
c.948-421C>G (n.948-421C>G)
c.3441+16880G>C (n.3441+16880G>C)
c.971C>G (p.Ala324Gly)
c.1156C>G (p.Leu386Val)
c.276+16880G>C (n.276+16880G>C)
c.*220+5664C>G (n.*220+5664C>G)
c.280C>G (p.Leu94Val)
c.307C>G (p.Leu103Val)
c.1162C>G (p.Leu388Val)
c.976C>G (p.Leu326Val)
c.895C>G (p.Leu299Val)
c.601C>G (p.Leu201Val)
c.982C>G (p.Leu328Val)
2g.48688560G>TCA346748539GTF2A1L,LHCGR,STON1-GTF2A1Lc.1237C>A (p.Leu413Met)
c.948-421C>A (n.948-421C>A)
c.3441+16880G>T (n.3441+16880G>T)
c.971C>A (p.Ala324Asp)
c.1156C>A (p.Leu386Met)
c.276+16880G>T (n.276+16880G>T)
c.*220+5664C>A (n.*220+5664C>A)
c.280C>A (p.Leu94Met)
c.307C>A (p.Leu103Met)
c.1162C>A (p.Leu388Met)
c.976C>A (p.Leu326Met)
c.895C>A (p.Leu299Met)
c.601C>A (p.Leu201Met)
c.982C>A (p.Leu328Met)
2g.48688561C>ACA346748541GTF2A1L,LHCGR,STON1-GTF2A1Lc.1236G>T (p.Leu412=)
c.948-422G>T (n.948-422G>T)
c.3441+16881C>A (n.3441+16881C>A)
c.970G>T (p.Ala324Ser)
c.1155G>T (p.Leu385=)
c.276+16881C>A (n.276+16881C>A)
c.*220+5663G>T (n.*220+5663G>T)
c.279G>T (p.Leu93=)
c.306G>T (p.Leu102=)
c.1161G>T (p.Leu387=)
c.975G>T (p.Leu325=)
c.894G>T (p.Leu298=)
c.600G>T (p.Leu200=)
c.981G>T (p.Leu327=)
2g.48688561C>GCA346748547GTF2A1L,LHCGR,STON1-GTF2A1Lc.1236G>C (p.Leu412=)
c.948-422G>C (n.948-422G>C)
c.3441+16881C>G (n.3441+16881C>G)
c.970G>C (p.Ala324Pro)
c.1155G>C (p.Leu385=)
c.276+16881C>G (n.276+16881C>G)
c.*220+5663G>C (n.*220+5663G>C)
c.279G>C (p.Leu93=)
c.306G>C (p.Leu102=)
c.1161G>C (p.Leu387=)
c.975G>C (p.Leu325=)
c.894G>C (p.Leu298=)
c.600G>C (p.Leu200=)
c.981G>C (p.Leu327=)
2g.48688561C>TCA346748549GTF2A1L,LHCGR,STON1-GTF2A1Lc.1236G>A (p.Leu412=)
c.948-422G>A (n.948-422G>A)
c.3441+16881C>T (n.3441+16881C>T)
c.970G>A (p.Ala324Thr)
c.1155G>A (p.Leu385=)
c.276+16881C>T (n.276+16881C>T)
c.*220+5663G>A (n.*220+5663G>A)
c.279G>A (p.Leu93=)
c.306G>A (p.Leu102=)
c.1161G>A (p.Leu387=)
c.975G>A (p.Leu325=)
c.894G>A (p.Leu298=)
c.600G>A (p.Leu200=)
c.981G>A (p.Leu327=)
2g.48688562A>CCA346748553GTF2A1L,LHCGR,STON1-GTF2A1Lc.1235T>G (p.Leu412Arg)
c.948-423T>G (n.948-423T>G)
c.3441+16882A>C (n.3441+16882A>C)
c.969T>G (p.Ser323=)
c.1154T>G (p.Leu385Arg)
c.276+16882A>C (n.276+16882A>C)
c.*220+5662T>G (n.*220+5662T>G)
c.278T>G (p.Leu93Arg)
c.305T>G (p.Leu102Arg)
c.1160T>G (p.Leu387Arg)
c.974T>G (p.Leu325Arg)
c.893T>G (p.Leu298Arg)
c.599T>G (p.Leu200Arg)
c.980T>G (p.Leu327Arg)
2g.48688562A>GCA346748555GTF2A1L,LHCGR,STON1-GTF2A1Lc.1235T>C (p.Leu412Pro)
c.948-423T>C (n.948-423T>C)
c.3441+16882A>G (n.3441+16882A>G)
c.969T>C (p.Ser323=)
c.1154T>C (p.Leu385Pro)
c.276+16882A>G (n.276+16882A>G)
c.*220+5662T>C (n.*220+5662T>C)
c.278T>C (p.Leu93Pro)
c.305T>C (p.Leu102Pro)
c.1160T>C (p.Leu387Pro)
c.974T>C (p.Leu325Pro)
c.893T>C (p.Leu298Pro)
c.599T>C (p.Leu200Pro)
c.980T>C (p.Leu327Pro)
2g.48688562A>TCA346748556GTF2A1L,LHCGR,STON1-GTF2A1Lc.1235T>A (p.Leu412Gln)
c.948-423T>A (n.948-423T>A)
c.3441+16882A>T (n.3441+16882A>T)
c.969T>A (p.Ser323=)
c.1154T>A (p.Leu385Gln)
c.276+16882A>T (n.276+16882A>T)
c.*220+5662T>A (n.*220+5662T>A)
c.278T>A (p.Leu93Gln)
c.305T>A (p.Leu102Gln)
c.1160T>A (p.Leu387Gln)
c.974T>A (p.Leu325Gln)
c.893T>A (p.Leu298Gln)
c.599T>A (p.Leu200Gln)
c.980T>A (p.Leu327Gln)
 gnomAD v4
2g.48688563G>ACA346748562GTF2A1L,LHCGR,STON1-GTF2A1Lc.1234C>T (p.Leu412=)
c.948-424C>T (n.948-424C>T)
c.3441+16883G>A (n.3441+16883G>A)
c.968C>T (p.Ser323Phe)
c.1153C>T (p.Leu385=)
c.276+16883G>A (n.276+16883G>A)
c.*220+5661C>T (n.*220+5661C>T)
c.277C>T (p.Leu93=)
c.304C>T (p.Leu102=)
c.1159C>T (p.Leu387=)
c.973C>T (p.Leu325=)
c.892C>T (p.Leu298=)
c.598C>T (p.Leu200=)
c.979C>T (p.Leu327=)
2g.48688563G>CCA1653060GTF2A1L,LHCGR,STON1-GTF2A1Lc.1234C>G (p.Leu412Val)
c.948-424C>G (n.948-424C>G)
c.3441+16883G>C (n.3441+16883G>C)
c.968C>G (p.Ser323Cys)
c.1153C>G (p.Leu385Val)
c.276+16883G>C (n.276+16883G>C)
c.*220+5661C>G (n.*220+5661C>G)
c.277C>G (p.Leu93Val)
c.304C>G (p.Leu102Val)
c.1159C>G (p.Leu387Val)
c.973C>G (p.Leu325Val)
c.892C>G (p.Leu298Val)
c.598C>G (p.Leu200Val)
c.979C>G (p.Leu327Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688563G=CA1248601187GTF2A1L,LHCGR,STON1-GTF2A1Lc.1234C= (p.Leu412=)
c.948-424C= (n.948-424C=)
c.3441+16883G= (n.3441+16883G=)
c.968C= (p.Ser323=)
c.1153C= (p.Leu385=)
c.276+16883G= (n.276+16883G=)
c.*220+5661C= (n.*220+5661C=)
c.277C= (p.Leu93=)
c.304C= (p.Leu102=)
c.1159C= (p.Leu387=)
c.973C= (p.Leu325=)
c.892C= (p.Leu298=)
c.598C= (p.Leu200=)
c.979C= (p.Leu327=)
2g.48688563G>TCA346748560GTF2A1L,LHCGR,STON1-GTF2A1Lc.1234C>A (p.Leu412Met)
c.948-424C>A (n.948-424C>A)
c.3441+16883G>T (n.3441+16883G>T)
c.968C>A (p.Ser323Tyr)
c.1153C>A (p.Leu385Met)
c.276+16883G>T (n.276+16883G>T)
c.*220+5661C>A (n.*220+5661C>A)
c.277C>A (p.Leu93Met)
c.304C>A (p.Leu102Met)
c.1159C>A (p.Leu387Met)
c.973C>A (p.Leu325Met)
c.892C>A (p.Leu298Met)
c.598C>A (p.Leu200Met)
c.979C>A (p.Leu327Met)
2g.48688564A>CCA346748565GTF2A1L,LHCGR,STON1-GTF2A1Lc.1233T>G (p.Tyr411Ter)
c.948-425T>G (n.948-425T>G)
c.3441+16884A>C (n.3441+16884A>C)
c.967T>G (p.Ser323Ala)
c.1152T>G (p.Tyr384Ter)
c.276+16884A>C (n.276+16884A>C)
c.*220+5660T>G (n.*220+5660T>G)
c.276T>G (p.Tyr92Ter)
c.303T>G (p.Tyr101Ter)
c.1158T>G (p.Tyr386Ter)
c.972T>G (p.Tyr324Ter)
c.891T>G (p.Tyr297Ter)
c.597T>G (p.Tyr199Ter)
c.978T>G (p.Tyr326Ter)
2g.48688564A>GCA346748572GTF2A1L,LHCGR,STON1-GTF2A1Lc.1233T>C (p.Tyr411=)
c.948-425T>C (n.948-425T>C)
c.3441+16884A>G (n.3441+16884A>G)
c.967T>C (p.Ser323Pro)
c.1152T>C (p.Tyr384=)
c.276+16884A>G (n.276+16884A>G)
c.*220+5660T>C (n.*220+5660T>C)
c.276T>C (p.Tyr92=)
c.303T>C (p.Tyr101=)
c.1158T>C (p.Tyr386=)
c.972T>C (p.Tyr324=)
c.891T>C (p.Tyr297=)
c.597T>C (p.Tyr199=)
c.978T>C (p.Tyr326=)
 gnomAD v4
2g.48688564A>TCA346748574GTF2A1L,LHCGR,STON1-GTF2A1Lc.1233T>A (p.Tyr411Ter)
c.948-425T>A (n.948-425T>A)
c.3441+16884A>T (n.3441+16884A>T)
c.967T>A (p.Ser323Thr)
c.1152T>A (p.Tyr384Ter)
c.276+16884A>T (n.276+16884A>T)
c.*220+5660T>A (n.*220+5660T>A)
c.276T>A (p.Tyr92Ter)
c.303T>A (p.Tyr101Ter)
c.1158T>A (p.Tyr386Ter)
c.972T>A (p.Tyr324Ter)
c.891T>A (p.Tyr297Ter)
c.597T>A (p.Tyr199Ter)
c.978T>A (p.Tyr326Ter)
2g.48688565T>ACA346748577GTF2A1L,LHCGR,STON1-GTF2A1Lc.1232A>T (p.Tyr411Phe)
c.948-426A>T (n.948-426A>T)
c.3441+16885T>A (n.3441+16885T>A)
c.966A>T (p.Leu322=)
c.1151A>T (p.Tyr384Phe)
c.276+16885T>A (n.276+16885T>A)
c.*220+5659A>T (n.*220+5659A>T)
c.275A>T (p.Tyr92Phe)
c.302A>T (p.Tyr101Phe)
c.1157A>T (p.Tyr386Phe)
c.971A>T (p.Tyr324Phe)
c.890A>T (p.Tyr297Phe)
c.596A>T (p.Tyr199Phe)
c.977A>T (p.Tyr326Phe)
2g.48688565T>CCA346748579GTF2A1L,LHCGR,STON1-GTF2A1Lc.1232A>G (p.Tyr411Cys)
c.948-426A>G (n.948-426A>G)
c.3441+16885T>C (n.3441+16885T>C)
c.966A>G (p.Leu322=)
c.1151A>G (p.Tyr384Cys)
c.276+16885T>C (n.276+16885T>C)
c.*220+5659A>G (n.*220+5659A>G)
c.275A>G (p.Tyr92Cys)
c.302A>G (p.Tyr101Cys)
c.1157A>G (p.Tyr386Cys)
c.971A>G (p.Tyr324Cys)
c.890A>G (p.Tyr297Cys)
c.596A>G (p.Tyr199Cys)
c.977A>G (p.Tyr326Cys)
2g.48688565T>GCA346748581GTF2A1L,LHCGR,STON1-GTF2A1Lc.1232A>C (p.Tyr411Ser)
c.948-426A>C (n.948-426A>C)
c.3441+16885T>G (n.3441+16885T>G)
c.966A>C (p.Leu322=)
c.1151A>C (p.Tyr384Ser)
c.276+16885T>G (n.276+16885T>G)
c.*220+5659A>C (n.*220+5659A>C)
c.275A>C (p.Tyr92Ser)
c.302A>C (p.Tyr101Ser)
c.1157A>C (p.Tyr386Ser)
c.971A>C (p.Tyr324Ser)
c.890A>C (p.Tyr297Ser)
c.596A>C (p.Tyr199Ser)
c.977A>C (p.Tyr326Ser)
2g.48688566A>CCA346748586GTF2A1L,LHCGR,STON1-GTF2A1Lc.1231T>G (p.Tyr411Asp)
c.948-427T>G (n.948-427T>G)
c.3441+16886A>C (n.3441+16886A>C)
c.965T>G (p.Leu322Arg)
c.1150T>G (p.Tyr384Asp)
c.276+16886A>C (n.276+16886A>C)
c.*220+5658T>G (n.*220+5658T>G)
c.274T>G (p.Tyr92Asp)
c.301T>G (p.Tyr101Asp)
c.1156T>G (p.Tyr386Asp)
c.970T>G (p.Tyr324Asp)
c.889T>G (p.Tyr297Asp)
c.595T>G (p.Tyr199Asp)
c.976T>G (p.Tyr326Asp)
2g.48688566A>GCA346748582GTF2A1L,LHCGR,STON1-GTF2A1Lc.1231T>C (p.Tyr411His)
c.948-427T>C (n.948-427T>C)
c.3441+16886A>G (n.3441+16886A>G)
c.965T>C (p.Leu322Pro)
c.1150T>C (p.Tyr384His)
c.276+16886A>G (n.276+16886A>G)
c.*220+5658T>C (n.*220+5658T>C)
c.274T>C (p.Tyr92His)
c.301T>C (p.Tyr101His)
c.1156T>C (p.Tyr386His)
c.970T>C (p.Tyr324His)
c.889T>C (p.Tyr297His)
c.595T>C (p.Tyr199His)
c.976T>C (p.Tyr326His)
2g.48688566A>TCA346748585GTF2A1L,LHCGR,STON1-GTF2A1Lc.1231T>A (p.Tyr411Asn)
c.948-427T>A (n.948-427T>A)
c.3441+16886A>T (n.3441+16886A>T)
c.965T>A (p.Leu322Gln)
c.1150T>A (p.Tyr384Asn)
c.276+16886A>T (n.276+16886A>T)
c.*220+5658T>A (n.*220+5658T>A)
c.274T>A (p.Tyr92Asn)
c.301T>A (p.Tyr101Asn)
c.1156T>A (p.Tyr386Asn)
c.970T>A (p.Tyr324Asn)
c.889T>A (p.Tyr297Asn)
c.595T>A (p.Tyr199Asn)
c.976T>A (p.Tyr326Asn)
2g.48688567G>ACA426124557GTF2A1L,LHCGR,STON1-GTF2A1Lc.1230C>T (p.Leu410=)
c.948-428C>T (n.948-428C>T)
c.3441+16887G>A (n.3441+16887G>A)
c.964C>T (p.Leu322=)
c.1149C>T (p.Leu383=)
c.276+16887G>A (n.276+16887G>A)
c.*220+5657C>T (n.*220+5657C>T)
c.273C>T (p.Leu91=)
c.300C>T (p.Leu100=)
c.1155C>T (p.Leu385=)
c.969C>T (p.Leu323=)
c.888C>T (p.Leu296=)
c.594C>T (p.Leu198=)
c.975C>T (p.Leu325=)
2g.48688567G>CCA1653061GTF2A1L,LHCGR,STON1-GTF2A1Lc.1230C>G (p.Leu410=)
c.948-428C>G (n.948-428C>G)
c.3441+16887G>C (n.3441+16887G>C)
c.964C>G (p.Leu322Val)
c.1149C>G (p.Leu383=)
c.276+16887G>C (n.276+16887G>C)
c.*220+5657C>G (n.*220+5657C>G)
c.273C>G (p.Leu91=)
c.300C>G (p.Leu100=)
c.1155C>G (p.Leu385=)
c.969C>G (p.Leu323=)
c.888C>G (p.Leu296=)
c.594C>G (p.Leu198=)
c.975C>G (p.Leu325=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688567G=CA1248601188GTF2A1L,LHCGR,STON1-GTF2A1Lc.1230C= (p.Leu410=)
c.948-428C= (n.948-428C=)
c.3441+16887G= (n.3441+16887G=)
c.964C= (p.Leu322=)
c.1149C= (p.Leu383=)
c.276+16887G= (n.276+16887G=)
c.*220+5657C= (n.*220+5657C=)
c.273C= (p.Leu91=)
c.300C= (p.Leu100=)
c.1155C= (p.Leu385=)
c.969C= (p.Leu323=)
c.888C= (p.Leu296=)
c.594C= (p.Leu198=)
c.975C= (p.Leu325=)
2g.48688567G>TCA346748590GTF2A1L,LHCGR,STON1-GTF2A1Lc.1230C>A (p.Leu410=)
c.948-428C>A (n.948-428C>A)
c.3441+16887G>T (n.3441+16887G>T)
c.964C>A (p.Leu322Ile)
c.1149C>A (p.Leu383=)
c.276+16887G>T (n.276+16887G>T)
c.*220+5657C>A (n.*220+5657C>A)
c.273C>A (p.Leu91=)
c.300C>A (p.Leu100=)
c.1155C>A (p.Leu385=)
c.969C>A (p.Leu323=)
c.888C>A (p.Leu296=)
c.594C>A (p.Leu198=)
c.975C>A (p.Leu325=)
2g.48688568A>CCA346748592GTF2A1L,LHCGR,STON1-GTF2A1Lc.1229T>G (p.Leu410Arg)
c.948-429T>G (n.948-429T>G)
c.3441+16888A>C (n.3441+16888A>C)
c.963T>G (p.Ala321=)
c.1148T>G (p.Leu383Arg)
c.276+16888A>C (n.276+16888A>C)
c.*220+5656T>G (n.*220+5656T>G)
c.272T>G (p.Leu91Arg)
c.299T>G (p.Leu100Arg)
c.1154T>G (p.Leu385Arg)
c.968T>G (p.Leu323Arg)
c.887T>G (p.Leu296Arg)
c.593T>G (p.Leu198Arg)
c.974T>G (p.Leu325Arg)
2g.48688568A>GCA346748593GTF2A1L,LHCGR,STON1-GTF2A1Lc.1229T>C (p.Leu410Pro)
c.948-429T>C (n.948-429T>C)
c.3441+16888A>G (n.3441+16888A>G)
c.963T>C (p.Ala321=)
c.1148T>C (p.Leu383Pro)
c.276+16888A>G (n.276+16888A>G)
c.*220+5656T>C (n.*220+5656T>C)
c.272T>C (p.Leu91Pro)
c.299T>C (p.Leu100Pro)
c.1154T>C (p.Leu385Pro)
c.968T>C (p.Leu323Pro)
c.887T>C (p.Leu296Pro)
c.593T>C (p.Leu198Pro)
c.974T>C (p.Leu325Pro)
2g.48688568A>TCA346748594GTF2A1L,LHCGR,STON1-GTF2A1Lc.1229T>A (p.Leu410His)
c.948-429T>A (n.948-429T>A)
c.3441+16888A>T (n.3441+16888A>T)
c.963T>A (p.Ala321=)
c.1148T>A (p.Leu383His)
c.276+16888A>T (n.276+16888A>T)
c.*220+5656T>A (n.*220+5656T>A)
c.272T>A (p.Leu91His)
c.299T>A (p.Leu100His)
c.1154T>A (p.Leu385His)
c.968T>A (p.Leu323His)
c.887T>A (p.Leu296His)
c.593T>A (p.Leu198His)
c.974T>A (p.Leu325His)
2g.48688569G>ACA346748600GTF2A1L,LHCGR,STON1-GTF2A1Lc.1228C>T (p.Leu410Phe)
c.948-430C>T (n.948-430C>T)
c.3441+16889G>A (n.3441+16889G>A)
c.962C>T (p.Ala321Val)
c.1147C>T (p.Leu383Phe)
c.276+16889G>A (n.276+16889G>A)
c.*220+5655C>T (n.*220+5655C>T)
c.271C>T (p.Leu91Phe)
c.298C>T (p.Leu100Phe)
c.1153C>T (p.Leu385Phe)
c.967C>T (p.Leu323Phe)
c.886C>T (p.Leu296Phe)
c.592C>T (p.Leu198Phe)
c.973C>T (p.Leu325Phe)
2g.48688569G>CCA346748596GTF2A1L,LHCGR,STON1-GTF2A1Lc.1228C>G (p.Leu410Val)
c.948-430C>G (n.948-430C>G)
c.3441+16889G>C (n.3441+16889G>C)
c.962C>G (p.Ala321Gly)
c.1147C>G (p.Leu383Val)
c.276+16889G>C (n.276+16889G>C)
c.*220+5655C>G (n.*220+5655C>G)
c.271C>G (p.Leu91Val)
c.298C>G (p.Leu100Val)
c.1153C>G (p.Leu385Val)
c.967C>G (p.Leu323Val)
c.886C>G (p.Leu296Val)
c.592C>G (p.Leu198Val)
c.973C>G (p.Leu325Val)
2g.48688569G>TCA346748597GTF2A1L,LHCGR,STON1-GTF2A1Lc.1228C>A (p.Leu410Ile)
c.948-430C>A (n.948-430C>A)
c.3441+16889G>T (n.3441+16889G>T)
c.962C>A (p.Ala321Asp)
c.1147C>A (p.Leu383Ile)
c.276+16889G>T (n.276+16889G>T)
c.*220+5655C>A (n.*220+5655C>A)
c.271C>A (p.Leu91Ile)
c.298C>A (p.Leu100Ile)
c.1153C>A (p.Leu385Ile)
c.967C>A (p.Leu323Ile)
c.886C>A (p.Leu296Ile)
c.592C>A (p.Leu198Ile)
c.973C>A (p.Leu325Ile)
 gnomAD v4
2g.48688570C>ACA346748603GTF2A1L,LHCGR,STON1-GTF2A1Lc.1227G>T (p.Gly409=)
c.948-431G>T (n.948-431G>T)
c.3441+16890C>A (n.3441+16890C>A)
c.961G>T (p.Ala321Ser)
c.1146G>T (p.Gly382=)
c.276+16890C>A (n.276+16890C>A)
c.*220+5654G>T (n.*220+5654G>T)
c.270G>T (p.Gly90=)
c.297G>T (p.Gly99=)
c.1152G>T (p.Gly384=)
c.966G>T (p.Gly322=)
c.885G>T (p.Gly295=)
c.591G>T (p.Gly197=)
c.972G>T (p.Gly324=)
 gnomAD v4
2g.48688570C=CA1248601189GTF2A1L,LHCGR,STON1-GTF2A1Lc.1227G= (p.Gly409=)
c.948-431G= (n.948-431G=)
c.3441+16890C= (n.3441+16890C=)
c.961G= (p.Ala321=)
c.1146G= (p.Gly382=)
c.276+16890C= (n.276+16890C=)
c.*220+5654G= (n.*220+5654G=)
c.270G= (p.Gly90=)
c.297G= (p.Gly99=)
c.1152G= (p.Gly384=)
c.966G= (p.Gly322=)
c.885G= (p.Gly295=)
c.591G= (p.Gly197=)
c.972G= (p.Gly324=)
2g.48688570C>GCA346748604GTF2A1L,LHCGR,STON1-GTF2A1Lc.1227G>C (p.Gly409=)
c.948-431G>C (n.948-431G>C)
c.3441+16890C>G (n.3441+16890C>G)
c.961G>C (p.Ala321Pro)
c.1146G>C (p.Gly382=)
c.276+16890C>G (n.276+16890C>G)
c.*220+5654G>C (n.*220+5654G>C)
c.270G>C (p.Gly90=)
c.297G>C (p.Gly99=)
c.1152G>C (p.Gly384=)
c.966G>C (p.Gly322=)
c.885G>C (p.Gly295=)
c.591G>C (p.Gly197=)
c.972G>C (p.Gly324=)
2g.48688570C>TCA346748608GTF2A1L,LHCGR,STON1-GTF2A1Lc.1227G>A (p.Gly409=)
c.948-431G>A (n.948-431G>A)
c.3441+16890C>T (n.3441+16890C>T)
c.961G>A (p.Ala321Thr)
c.1146G>A (p.Gly382=)
c.276+16890C>T (n.276+16890C>T)
c.*220+5654G>A (n.*220+5654G>A)
c.270G>A (p.Gly90=)
c.297G>A (p.Gly99=)
c.1152G>A (p.Gly384=)
c.966G>A (p.Gly322=)
c.885G>A (p.Gly295=)
c.591G>A (p.Gly197=)
c.972G>A (p.Gly324=)
 dbSNP gnomAD v4
2g.48688571C>ACA346748613GTF2A1L,LHCGR,STON1-GTF2A1Lc.1226G>T (p.Gly409Val)
c.948-432G>T (n.948-432G>T)
c.3441+16891C>A (n.3441+16891C>A)
c.960G>T (p.Gly320=)
c.1145G>T (p.Gly382Val)
c.276+16891C>A (n.276+16891C>A)
c.*220+5653G>T (n.*220+5653G>T)
c.269G>T (p.Gly90Val)
c.296G>T (p.Gly99Val)
c.1151G>T (p.Gly384Val)
c.965G>T (p.Gly322Val)
c.884G>T (p.Gly295Val)
c.590G>T (p.Gly197Val)
c.971G>T (p.Gly324Val)
 gnomAD v4
2g.48688571C>GCA346748614GTF2A1L,LHCGR,STON1-GTF2A1Lc.1226G>C (p.Gly409Ala)
c.948-432G>C (n.948-432G>C)
c.3441+16891C>G (n.3441+16891C>G)
c.960G>C (p.Gly320=)
c.1145G>C (p.Gly382Ala)
c.276+16891C>G (n.276+16891C>G)
c.*220+5653G>C (n.*220+5653G>C)
c.269G>C (p.Gly90Ala)
c.296G>C (p.Gly99Ala)
c.1151G>C (p.Gly384Ala)
c.965G>C (p.Gly322Ala)
c.884G>C (p.Gly295Ala)
c.590G>C (p.Gly197Ala)
c.971G>C (p.Gly324Ala)
2g.48688571C>TCA346748616GTF2A1L,LHCGR,STON1-GTF2A1Lc.1226G>A (p.Gly409Glu)
c.948-432G>A (n.948-432G>A)
c.3441+16891C>T (n.3441+16891C>T)
c.960G>A (p.Gly320=)
c.1145G>A (p.Gly382Glu)
c.276+16891C>T (n.276+16891C>T)
c.*220+5653G>A (n.*220+5653G>A)
c.269G>A (p.Gly90Glu)
c.296G>A (p.Gly99Glu)
c.1151G>A (p.Gly384Glu)
c.965G>A (p.Gly322Glu)
c.884G>A (p.Gly295Glu)
c.590G>A (p.Gly197Glu)
c.971G>A (p.Gly324Glu)
2g.48688572C>ACA346748617GTF2A1L,LHCGR,STON1-GTF2A1Lc.1225G>T (p.Gly409Trp)
c.948-433G>T (n.948-433G>T)
c.3441+16892C>A (n.3441+16892C>A)
c.959G>T (p.Gly320Val)
c.1144G>T (p.Gly382Trp)
c.276+16892C>A (n.276+16892C>A)
c.*220+5652G>T (n.*220+5652G>T)
c.268G>T (p.Gly90Trp)
c.295G>T (p.Gly99Trp)
c.1150G>T (p.Gly384Trp)
c.964G>T (p.Gly322Trp)
c.883G>T (p.Gly295Trp)
c.589G>T (p.Gly197Trp)
c.970G>T (p.Gly324Trp)
2g.48688572C=CA1248601190GTF2A1L,LHCGR,STON1-GTF2A1Lc.1225G= (p.Gly409=)
c.948-433G= (n.948-433G=)
c.3441+16892C= (n.3441+16892C=)
c.959G= (p.Gly320=)
c.1144G= (p.Gly382=)
c.276+16892C= (n.276+16892C=)
c.*220+5652G= (n.*220+5652G=)
c.268G= (p.Gly90=)
c.295G= (p.Gly99=)
c.1150G= (p.Gly384=)
c.964G= (p.Gly322=)
c.883G= (p.Gly295=)
c.589G= (p.Gly197=)
c.970G= (p.Gly324=)
2g.48688572C>GCA346748619GTF2A1L,LHCGR,STON1-GTF2A1Lc.1225G>C (p.Gly409Arg)
c.948-433G>C (n.948-433G>C)
c.3441+16892C>G (n.3441+16892C>G)
c.959G>C (p.Gly320Ala)
c.1144G>C (p.Gly382Arg)
c.276+16892C>G (n.276+16892C>G)
c.*220+5652G>C (n.*220+5652G>C)
c.268G>C (p.Gly90Arg)
c.295G>C (p.Gly99Arg)
c.1150G>C (p.Gly384Arg)
c.964G>C (p.Gly322Arg)
c.883G>C (p.Gly295Arg)
c.589G>C (p.Gly197Arg)
c.970G>C (p.Gly324Arg)
2g.48688572C>TCA346748622GTF2A1L,LHCGR,STON1-GTF2A1Lc.1225G>A (p.Gly409Arg)
c.948-433G>A (n.948-433G>A)
c.3441+16892C>T (n.3441+16892C>T)
c.959G>A (p.Gly320Glu)
c.1144G>A (p.Gly382Arg)
c.276+16892C>T (n.276+16892C>T)
c.*220+5652G>A (n.*220+5652G>A)
c.268G>A (p.Gly90Arg)
c.295G>A (p.Gly99Arg)
c.1150G>A (p.Gly384Arg)
c.964G>A (p.Gly322Arg)
c.883G>A (p.Gly295Arg)
c.589G>A (p.Gly197Arg)
c.970G>A (p.Gly324Arg)
 dbSNP COSMIC
2g.48688573C>ACA346748624GTF2A1L,LHCGR,STON1-GTF2A1Lc.1224G>T (p.Met408Ile)
c.948-434G>T (n.948-434G>T)
c.3441+16893C>A (n.3441+16893C>A)
c.958G>T (p.Gly320Trp)
c.1143G>T (p.Met381Ile)
c.276+16893C>A (n.276+16893C>A)
c.*220+5651G>T (n.*220+5651G>T)
c.267G>T (p.Met89Ile)
c.294G>T (p.Met98Ile)
c.1149G>T (p.Met383Ile)
c.963G>T (p.Met321Ile)
c.882G>T (p.Met294Ile)
c.588G>T (p.Met196Ile)
c.969G>T (p.Met323Ile)
2g.48688573C=CA1248601191GTF2A1L,LHCGR,STON1-GTF2A1Lc.1224G= (p.Met408=)
c.948-434G= (n.948-434G=)
c.3441+16893C= (n.3441+16893C=)
c.958G= (p.Gly320=)
c.1143G= (p.Met381=)
c.276+16893C= (n.276+16893C=)
c.*220+5651G= (n.*220+5651G=)
c.267G= (p.Met89=)
c.294G= (p.Met98=)
c.1149G= (p.Met383=)
c.963G= (p.Met321=)
c.882G= (p.Met294=)
c.588G= (p.Met196=)
c.969G= (p.Met323=)
2g.48688573C>GCA346748626GTF2A1L,LHCGR,STON1-GTF2A1Lc.1224G>C (p.Met408Ile)
c.948-434G>C (n.948-434G>C)
c.3441+16893C>G (n.3441+16893C>G)
c.958G>C (p.Gly320Arg)
c.1143G>C (p.Met381Ile)
c.276+16893C>G (n.276+16893C>G)
c.*220+5651G>C (n.*220+5651G>C)
c.267G>C (p.Met89Ile)
c.294G>C (p.Met98Ile)
c.1149G>C (p.Met383Ile)
c.963G>C (p.Met321Ile)
c.882G>C (p.Met294Ile)
c.588G>C (p.Met196Ile)
c.969G>C (p.Met323Ile)
2g.48688573C>TCA1653062GTF2A1L,LHCGR,STON1-GTF2A1Lc.1224G>A (p.Met408Ile)
c.948-434G>A (n.948-434G>A)
c.3441+16893C>T (n.3441+16893C>T)
c.958G>A (p.Gly320Arg)
c.1143G>A (p.Met381Ile)
c.276+16893C>T (n.276+16893C>T)
c.*220+5651G>A (n.*220+5651G>A)
c.267G>A (p.Met89Ile)
c.294G>A (p.Met98Ile)
c.1149G>A (p.Met383Ile)
c.963G>A (p.Met321Ile)
c.882G>A (p.Met294Ile)
c.588G>A (p.Met196Ile)
c.969G>A (p.Met323Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688574A=CA1248601192GTF2A1L,LHCGR,STON1-GTF2A1Lc.1223T= (p.Met408=)
c.948-435T= (n.948-435T=)
c.3441+16894A= (n.3441+16894A=)
c.957T= (p.His319=)
c.1142T= (p.Met381=)
c.276+16894A= (n.276+16894A=)
c.*220+5650T= (n.*220+5650T=)
c.266T= (p.Met89=)
c.293T= (p.Met98=)
c.1148T= (p.Met383=)
c.962T= (p.Met321=)
c.881T= (p.Met294=)
c.587T= (p.Met196=)
c.968T= (p.Met323=)
2g.48688574A>CCA346748628GTF2A1L,LHCGR,STON1-GTF2A1Lc.1223T>G (p.Met408Arg)
c.948-435T>G (n.948-435T>G)
c.3441+16894A>C (n.3441+16894A>C)
c.957T>G (p.His319Gln)
c.1142T>G (p.Met381Arg)
c.276+16894A>C (n.276+16894A>C)
c.*220+5650T>G (n.*220+5650T>G)
c.266T>G (p.Met89Arg)
c.293T>G (p.Met98Arg)
c.1148T>G (p.Met383Arg)
c.962T>G (p.Met321Arg)
c.881T>G (p.Met294Arg)
c.587T>G (p.Met196Arg)
c.968T>G (p.Met323Arg)
2g.48688574A>GCA1653063GTF2A1L,LHCGR,STON1-GTF2A1Lc.1223T>C (p.Met408Thr)
c.948-435T>C (n.948-435T>C)
c.3441+16894A>G (n.3441+16894A>G)
c.957T>C (p.His319=)
c.1142T>C (p.Met381Thr)
c.276+16894A>G (n.276+16894A>G)
c.*220+5650T>C (n.*220+5650T>C)
c.266T>C (p.Met89Thr)
c.293T>C (p.Met98Thr)
c.1148T>C (p.Met383Thr)
c.962T>C (p.Met321Thr)
c.881T>C (p.Met294Thr)
c.587T>C (p.Met196Thr)
c.968T>C (p.Met323Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688574A>TCA346748632GTF2A1L,LHCGR,STON1-GTF2A1Lc.1223T>A (p.Met408Lys)
c.948-435T>A (n.948-435T>A)
c.3441+16894A>T (n.3441+16894A>T)
c.957T>A (p.His319Gln)
c.1142T>A (p.Met381Lys)
c.276+16894A>T (n.276+16894A>T)
c.*220+5650T>A (n.*220+5650T>A)
c.266T>A (p.Met89Lys)
c.293T>A (p.Met98Lys)
c.1148T>A (p.Met383Lys)
c.962T>A (p.Met321Lys)
c.881T>A (p.Met294Lys)
c.587T>A (p.Met196Lys)
c.968T>A (p.Met323Lys)
2g.48688575T>ACA346748634GTF2A1L,LHCGR,STON1-GTF2A1Lc.1222A>T (p.Met408Leu)
c.948-436A>T (n.948-436A>T)
c.3441+16895T>A (n.3441+16895T>A)
c.956A>T (p.His319Leu)
c.1141A>T (p.Met381Leu)
c.276+16895T>A (n.276+16895T>A)
c.*220+5649A>T (n.*220+5649A>T)
c.265A>T (p.Met89Leu)
c.292A>T (p.Met98Leu)
c.1147A>T (p.Met383Leu)
c.961A>T (p.Met321Leu)
c.880A>T (p.Met294Leu)
c.586A>T (p.Met196Leu)
c.967A>T (p.Met323Leu)
2g.48688575T>CCA1653064GTF2A1L,LHCGR,STON1-GTF2A1Lc.1222A>G (p.Met408Val)
c.948-436A>G (n.948-436A>G)
c.3441+16895T>C (n.3441+16895T>C)
c.956A>G (p.His319Arg)
c.1141A>G (p.Met381Val)
c.276+16895T>C (n.276+16895T>C)
c.*220+5649A>G (n.*220+5649A>G)
c.265A>G (p.Met89Val)
c.292A>G (p.Met98Val)
c.1147A>G (p.Met383Val)
c.961A>G (p.Met321Val)
c.880A>G (p.Met294Val)
c.586A>G (p.Met196Val)
c.967A>G (p.Met323Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688575T>GCA346748635GTF2A1L,LHCGR,STON1-GTF2A1Lc.1222A>C (p.Met408Leu)
c.948-436A>C (n.948-436A>C)
c.3441+16895T>G (n.3441+16895T>G)
c.956A>C (p.His319Pro)
c.1141A>C (p.Met381Leu)
c.276+16895T>G (n.276+16895T>G)
c.*220+5649A>C (n.*220+5649A>C)
c.265A>C (p.Met89Leu)
c.292A>C (p.Met98Leu)
c.1147A>C (p.Met383Leu)
c.961A>C (p.Met321Leu)
c.880A>C (p.Met294Leu)
c.586A>C (p.Met196Leu)
c.967A>C (p.Met323Leu)
2g.48688575T=CA1248601193GTF2A1L,LHCGR,STON1-GTF2A1Lc.1222A= (p.Met408=)
c.948-436A= (n.948-436A=)
c.3441+16895T= (n.3441+16895T=)
c.956A= (p.His319=)
c.1141A= (p.Met381=)
c.276+16895T= (n.276+16895T=)
c.*220+5649A= (n.*220+5649A=)
c.265A= (p.Met89=)
c.292A= (p.Met98=)
c.1147A= (p.Met383=)
c.961A= (p.Met321=)
c.880A= (p.Met294=)
c.586A= (p.Met196=)
c.967A= (p.Met323=)
2g.48688576G>ACA346748636GTF2A1L,LHCGR,STON1-GTF2A1Lc.1221C>T (p.Cys407=)
c.948-437C>T (n.948-437C>T)
c.3441+16896G>A (n.3441+16896G>A)
c.955C>T (p.His319Tyr)
c.1140C>T (p.Cys380=)
c.276+16896G>A (n.276+16896G>A)
c.*220+5648C>T (n.*220+5648C>T)
c.264C>T (p.Cys88=)
c.291C>T (p.Cys97=)
c.1146C>T (p.Cys382=)
c.960C>T (p.Cys320=)
c.879C>T (p.Cys293=)
c.585C>T (p.Cys195=)
c.966C>T (p.Cys322=)
 gnomAD v4
2g.48688576G>CCA346748637GTF2A1L,LHCGR,STON1-GTF2A1Lc.1221C>G (p.Cys407Trp)
c.948-437C>G (n.948-437C>G)
c.3441+16896G>C (n.3441+16896G>C)
c.955C>G (p.His319Asp)
c.1140C>G (p.Cys380Trp)
c.276+16896G>C (n.276+16896G>C)
c.*220+5648C>G (n.*220+5648C>G)
c.264C>G (p.Cys88Trp)
c.291C>G (p.Cys97Trp)
c.1146C>G (p.Cys382Trp)
c.960C>G (p.Cys320Trp)
c.879C>G (p.Cys293Trp)
c.585C>G (p.Cys195Trp)
c.966C>G (p.Cys322Trp)
 gnomAD v4
2g.48688576G>TCA346748640GTF2A1L,LHCGR,STON1-GTF2A1Lc.1221C>A (p.Cys407Ter)
c.948-437C>A (n.948-437C>A)
c.3441+16896G>T (n.3441+16896G>T)
c.955C>A (p.His319Asn)
c.1140C>A (p.Cys380Ter)
c.276+16896G>T (n.276+16896G>T)
c.*220+5648C>A (n.*220+5648C>A)
c.264C>A (p.Cys88Ter)
c.291C>A (p.Cys97Ter)
c.1146C>A (p.Cys382Ter)
c.960C>A (p.Cys320Ter)
c.879C>A (p.Cys293Ter)
c.585C>A (p.Cys195Ter)
c.966C>A (p.Cys322Ter)
2g.48688577C>ACA346748646GTF2A1L,LHCGR,STON1-GTF2A1Lc.1220G>T (p.Cys407Phe)
c.948-438G>T (n.948-438G>T)
c.3441+16897C>A (n.3441+16897C>A)
c.954G>T (p.Leu318Phe)
c.1139G>T (p.Cys380Phe)
c.276+16897C>A (n.276+16897C>A)
c.*220+5647G>T (n.*220+5647G>T)
c.263G>T (p.Cys88Phe)
c.290G>T (p.Cys97Phe)
c.1145G>T (p.Cys382Phe)
c.959G>T (p.Cys320Phe)
c.878G>T (p.Cys293Phe)
c.584G>T (p.Cys195Phe)
c.965G>T (p.Cys322Phe)
2g.48688577C>GCA346748642GTF2A1L,LHCGR,STON1-GTF2A1Lc.1220G>C (p.Cys407Ser)
c.948-438G>C (n.948-438G>C)
c.3441+16897C>G (n.3441+16897C>G)
c.954G>C (p.Leu318Phe)
c.1139G>C (p.Cys380Ser)
c.276+16897C>G (n.276+16897C>G)
c.*220+5647G>C (n.*220+5647G>C)
c.263G>C (p.Cys88Ser)
c.290G>C (p.Cys97Ser)
c.1145G>C (p.Cys382Ser)
c.959G>C (p.Cys320Ser)
c.878G>C (p.Cys293Ser)
c.584G>C (p.Cys195Ser)
c.965G>C (p.Cys322Ser)
2g.48688577C>TCA346748644GTF2A1L,LHCGR,STON1-GTF2A1Lc.1220G>A (p.Cys407Tyr)
c.948-438G>A (n.948-438G>A)
c.3441+16897C>T (n.3441+16897C>T)
c.954G>A (p.Leu318=)
c.1139G>A (p.Cys380Tyr)
c.276+16897C>T (n.276+16897C>T)
c.*220+5647G>A (n.*220+5647G>A)
c.263G>A (p.Cys88Tyr)
c.290G>A (p.Cys97Tyr)
c.1145G>A (p.Cys382Tyr)
c.959G>A (p.Cys320Tyr)
c.878G>A (p.Cys293Tyr)
c.584G>A (p.Cys195Tyr)
c.965G>A (p.Cys322Tyr)
2g.48688578A>CCA346748648GTF2A1L,LHCGR,STON1-GTF2A1Lc.1219T>G (p.Cys407Gly)
c.948-439T>G (n.948-439T>G)
c.3441+16898A>C (n.3441+16898A>C)
c.953T>G (p.Leu318Trp)
c.1138T>G (p.Cys380Gly)
c.276+16898A>C (n.276+16898A>C)
c.*220+5646T>G (n.*220+5646T>G)
c.262T>G (p.Cys88Gly)
c.289T>G (p.Cys97Gly)
c.1144T>G (p.Cys382Gly)
c.958T>G (p.Cys320Gly)
c.877T>G (p.Cys293Gly)
c.583T>G (p.Cys195Gly)
c.964T>G (p.Cys322Gly)
2g.48688578A>GCA346748649GTF2A1L,LHCGR,STON1-GTF2A1Lc.1219T>C (p.Cys407Arg)
c.948-439T>C (n.948-439T>C)
c.3441+16898A>G (n.3441+16898A>G)
c.953T>C (p.Leu318Ser)
c.1138T>C (p.Cys380Arg)
c.276+16898A>G (n.276+16898A>G)
c.*220+5646T>C (n.*220+5646T>C)
c.262T>C (p.Cys88Arg)
c.289T>C (p.Cys97Arg)
c.1144T>C (p.Cys382Arg)
c.958T>C (p.Cys320Arg)
c.877T>C (p.Cys293Arg)
c.583T>C (p.Cys195Arg)
c.964T>C (p.Cys322Arg)
2g.48688578A>TCA346748650GTF2A1L,LHCGR,STON1-GTF2A1Lc.1219T>A (p.Cys407Ser)
c.948-439T>A (n.948-439T>A)
c.3441+16898A>T (n.3441+16898A>T)
c.953T>A (p.Leu318Ter)
c.1138T>A (p.Cys380Ser)
c.276+16898A>T (n.276+16898A>T)
c.*220+5646T>A (n.*220+5646T>A)
c.262T>A (p.Cys88Ser)
c.289T>A (p.Cys97Ser)
c.1144T>A (p.Cys382Ser)
c.958T>A (p.Cys320Ser)
c.877T>A (p.Cys293Ser)
c.583T>A (p.Cys195Ser)
c.964T>A (p.Cys322Ser)
2g.48688579A=CA1248601194GTF2A1L,LHCGR,STON1-GTF2A1Lc.1218T= (p.Phe406=)
c.948-440T= (n.948-440T=)
c.3441+16899A= (n.3441+16899A=)
c.952T= (p.Leu318=)
c.1137T= (p.Phe379=)
c.276+16899A= (n.276+16899A=)
c.*220+5645T= (n.*220+5645T=)
c.261T= (p.Phe87=)
c.288T= (p.Phe96=)
c.1143T= (p.Phe381=)
c.957T= (p.Phe319=)
c.876T= (p.Phe292=)
c.582T= (p.Phe194=)
c.963T= (p.Phe321=)
2g.48688579A>CCA346748651GTF2A1L,LHCGR,STON1-GTF2A1Lc.1218T>G (p.Phe406Leu)
c.948-440T>G (n.948-440T>G)
c.3441+16899A>C (n.3441+16899A>C)
c.952T>G (p.Leu318Val)
c.1137T>G (p.Phe379Leu)
c.276+16899A>C (n.276+16899A>C)
c.*220+5645T>G (n.*220+5645T>G)
c.261T>G (p.Phe87Leu)
c.288T>G (p.Phe96Leu)
c.1143T>G (p.Phe381Leu)
c.957T>G (p.Phe319Leu)
c.876T>G (p.Phe292Leu)
c.582T>G (p.Phe194Leu)
c.963T>G (p.Phe321Leu)
2g.48688579A>GCA426124558GTF2A1L,LHCGR,STON1-GTF2A1Lc.1218T>C (p.Phe406=)
c.948-440T>C (n.948-440T>C)
c.3441+16899A>G (n.3441+16899A>G)
c.952T>C (p.Leu318=)
c.1137T>C (p.Phe379=)
c.276+16899A>G (n.276+16899A>G)
c.*220+5645T>C (n.*220+5645T>C)
c.261T>C (p.Phe87=)
c.288T>C (p.Phe96=)
c.1143T>C (p.Phe381=)
c.957T>C (p.Phe319=)
c.876T>C (p.Phe292=)
c.582T>C (p.Phe194=)
c.963T>C (p.Phe321=)
 dbSNP gnomAD v3 gnomAD v4
2g.48688579A>TCA346748653GTF2A1L,LHCGR,STON1-GTF2A1Lc.1218T>A (p.Phe406Leu)
c.948-440T>A (n.948-440T>A)
c.3441+16899A>T (n.3441+16899A>T)
c.952T>A (p.Leu318Met)
c.1137T>A (p.Phe379Leu)
c.276+16899A>T (n.276+16899A>T)
c.*220+5645T>A (n.*220+5645T>A)
c.261T>A (p.Phe87Leu)
c.288T>A (p.Phe96Leu)
c.1143T>A (p.Phe381Leu)
c.957T>A (p.Phe319Leu)
c.876T>A (p.Phe292Leu)
c.582T>A (p.Phe194Leu)
c.963T>A (p.Phe321Leu)
2g.48688580A=CA1248601195GTF2A1L,LHCGR,STON1-GTF2A1Lc.1217T= (p.Phe406=)
c.948-441T= (n.948-441T=)
c.3441+16900A= (n.3441+16900A=)
c.951T= (p.Leu317=)
c.1136T= (p.Phe379=)
c.276+16900A= (n.276+16900A=)
c.*220+5644T= (n.*220+5644T=)
c.260T= (p.Phe87=)
c.287T= (p.Phe96=)
c.1142T= (p.Phe381=)
c.956T= (p.Phe319=)
c.875T= (p.Phe292=)
c.581T= (p.Phe194=)
c.962T= (p.Phe321=)
2g.48688580A>CCA1653065GTF2A1L,LHCGR,STON1-GTF2A1Lc.1217T>G (p.Phe406Cys)
c.948-441T>G (n.948-441T>G)
c.3441+16900A>C (n.3441+16900A>C)
c.951T>G (p.Leu317=)
c.1136T>G (p.Phe379Cys)
c.276+16900A>C (n.276+16900A>C)
c.*220+5644T>G (n.*220+5644T>G)
c.260T>G (p.Phe87Cys)
c.287T>G (p.Phe96Cys)
c.1142T>G (p.Phe381Cys)
c.956T>G (p.Phe319Cys)
c.875T>G (p.Phe292Cys)
c.581T>G (p.Phe194Cys)
c.962T>G (p.Phe321Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48688580A>GCA346748655GTF2A1L,LHCGR,STON1-GTF2A1Lc.1217T>C (p.Phe406Ser)
c.948-441T>C (n.948-441T>C)
c.3441+16900A>G (n.3441+16900A>G)
c.951T>C (p.Leu317=)
c.1136T>C (p.Phe379Ser)
c.276+16900A>G (n.276+16900A>G)
c.*220+5644T>C (n.*220+5644T>C)
c.260T>C (p.Phe87Ser)
c.287T>C (p.Phe96Ser)
c.1142T>C (p.Phe381Ser)
c.956T>C (p.Phe319Ser)
c.875T>C (p.Phe292Ser)
c.581T>C (p.Phe194Ser)
c.962T>C (p.Phe321Ser)
2g.48688580A>TCA346748658GTF2A1L,LHCGR,STON1-GTF2A1Lc.1217T>A (p.Phe406Tyr)
c.948-441T>A (n.948-441T>A)
c.3441+16900A>T (n.3441+16900A>T)
c.951T>A (p.Leu317=)
c.1136T>A (p.Phe379Tyr)
c.276+16900A>T (n.276+16900A>T)
c.*220+5644T>A (n.*220+5644T>A)
c.260T>A (p.Phe87Tyr)
c.287T>A (p.Phe96Tyr)
c.1142T>A (p.Phe381Tyr)
c.956T>A (p.Phe319Tyr)
c.875T>A (p.Phe292Tyr)
c.581T>A (p.Phe194Tyr)
c.962T>A (p.Phe321Tyr)
2g.48688581A>CCA346748663GTF2A1L,LHCGR,STON1-GTF2A1Lc.1216T>G (p.Phe406Val)
c.948-442T>G (n.948-442T>G)
c.3441+16901A>C (n.3441+16901A>C)
c.950T>G (p.Leu317Arg)
c.1135T>G (p.Phe379Val)
c.276+16901A>C (n.276+16901A>C)
c.*220+5643T>G (n.*220+5643T>G)
c.259T>G (p.Phe87Val)
c.286T>G (p.Phe96Val)
c.1141T>G (p.Phe381Val)
c.955T>G (p.Phe319Val)
c.874T>G (p.Phe292Val)
c.580T>G (p.Phe194Val)
c.961T>G (p.Phe321Val)
2g.48688581A>GCA346748665GTF2A1L,LHCGR,STON1-GTF2A1Lc.1216T>C (p.Phe406Leu)
c.948-442T>C (n.948-442T>C)
c.3441+16901A>G (n.3441+16901A>G)
c.950T>C (p.Leu317Pro)
c.1135T>C (p.Phe379Leu)
c.276+16901A>G (n.276+16901A>G)
c.*220+5643T>C (n.*220+5643T>C)
c.259T>C (p.Phe87Leu)
c.286T>C (p.Phe96Leu)
c.1141T>C (p.Phe381Leu)
c.955T>C (p.Phe319Leu)
c.874T>C (p.Phe292Leu)
c.580T>C (p.Phe194Leu)
c.961T>C (p.Phe321Leu)
2g.48688581A>TCA346748668GTF2A1L,LHCGR,STON1-GTF2A1Lc.1216T>A (p.Phe406Ile)
c.948-442T>A (n.948-442T>A)
c.3441+16901A>T (n.3441+16901A>T)
c.950T>A (p.Leu317His)
c.1135T>A (p.Phe379Ile)
c.276+16901A>T (n.276+16901A>T)
c.*220+5643T>A (n.*220+5643T>A)
c.259T>A (p.Phe87Ile)
c.286T>A (p.Phe96Ile)
c.1141T>A (p.Phe381Ile)
c.955T>A (p.Phe319Ile)
c.874T>A (p.Phe292Ile)
c.580T>A (p.Phe194Ile)
c.961T>A (p.Phe321Ile)
2g.48688582G>ACA346748670GTF2A1L,LHCGR,STON1-GTF2A1Lc.1215C>T (p.Asp405=)
c.948-443C>T (n.948-443C>T)
c.3441+16902G>A (n.3441+16902G>A)
c.949C>T (p.Leu317Phe)
c.1134C>T (p.Asp378=)
c.276+16902G>A (n.276+16902G>A)
c.*220+5642C>T (n.*220+5642C>T)
c.258C>T (p.Asp86=)
c.285C>T (p.Asp95=)
c.1140C>T (p.Asp380=)
c.954C>T (p.Asp318=)
c.873C>T (p.Asp291=)
c.579C>T (p.Asp193=)
c.960C>T (p.Asp320=)
2g.48688582G>CCA346748673GTF2A1L,LHCGR,STON1-GTF2A1Lc.1215C>G (p.Asp405Glu)
c.948-443C>G (n.948-443C>G)
c.3441+16902G>C (n.3441+16902G>C)
c.949C>G (p.Leu317Val)
c.1134C>G (p.Asp378Glu)
c.276+16902G>C (n.276+16902G>C)
c.*220+5642C>G (n.*220+5642C>G)
c.258C>G (p.Asp86Glu)
c.285C>G (p.Asp95Glu)
c.1140C>G (p.Asp380Glu)
c.954C>G (p.Asp318Glu)
c.873C>G (p.Asp291Glu)
c.579C>G (p.Asp193Glu)
c.960C>G (p.Asp320Glu)
 gnomAD v4
2g.48688582G>TCA346748677GTF2A1L,LHCGR,STON1-GTF2A1Lc.1215C>A (p.Asp405Glu)
c.948-443C>A (n.948-443C>A)
c.3441+16902G>T (n.3441+16902G>T)
c.949C>A (p.Leu317Ile)
c.1134C>A (p.Asp378Glu)
c.276+16902G>T (n.276+16902G>T)
c.*220+5642C>A (n.*220+5642C>A)
c.258C>A (p.Asp86Glu)
c.285C>A (p.Asp95Glu)
c.1140C>A (p.Asp380Glu)
c.954C>A (p.Asp318Glu)
c.873C>A (p.Asp291Glu)
c.579C>A (p.Asp193Glu)
c.960C>A (p.Asp320Glu)
2g.48688583T>ACA346748678GTF2A1L,LHCGR,STON1-GTF2A1Lc.1214A>T (p.Asp405Val)
c.948-444A>T (n.948-444A>T)
c.3441+16903T>A (n.3441+16903T>A)
c.948A>T (p.Leu316=)
c.1133A>T (p.Asp378Val)
c.276+16903T>A (n.276+16903T>A)
c.*220+5641A>T (n.*220+5641A>T)
c.257A>T (p.Asp86Val)
c.284A>T (p.Asp95Val)
c.1139A>T (p.Asp380Val)
c.953A>T (p.Asp318Val)
c.872A>T (p.Asp291Val)
c.578A>T (p.Asp193Val)
c.959A>T (p.Asp320Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688583T>CCA346748680GTF2A1L,LHCGR,STON1-GTF2A1Lc.1214A>G (p.Asp405Gly)
c.948-444A>G (n.948-444A>G)
c.3441+16903T>C (n.3441+16903T>C)
c.948A>G (p.Leu316=)
c.1133A>G (p.Asp378Gly)
c.276+16903T>C (n.276+16903T>C)
c.*220+5641A>G (n.*220+5641A>G)
c.257A>G (p.Asp86Gly)
c.284A>G (p.Asp95Gly)
c.1139A>G (p.Asp380Gly)
c.953A>G (p.Asp318Gly)
c.872A>G (p.Asp291Gly)
c.578A>G (p.Asp193Gly)
c.959A>G (p.Asp320Gly)
 gnomAD v4
2g.48688583T>GCA346748681GTF2A1L,LHCGR,STON1-GTF2A1Lc.1214A>C (p.Asp405Ala)
c.948-444A>C (n.948-444A>C)
c.3441+16903T>G (n.3441+16903T>G)
c.948A>C (p.Leu316=)
c.1133A>C (p.Asp378Ala)
c.276+16903T>G (n.276+16903T>G)
c.*220+5641A>C (n.*220+5641A>C)
c.257A>C (p.Asp86Ala)
c.284A>C (p.Asp95Ala)
c.1139A>C (p.Asp380Ala)
c.953A>C (p.Asp318Ala)
c.872A>C (p.Asp291Ala)
c.578A>C (p.Asp193Ala)
c.959A>C (p.Asp320Ala)
2g.48688583T=CA1248601196GTF2A1L,LHCGR,STON1-GTF2A1Lc.1214A= (p.Asp405=)
c.948-444A= (n.948-444A=)
c.3441+16903T= (n.3441+16903T=)
c.948A= (p.Leu316=)
c.1133A= (p.Asp378=)
c.276+16903T= (n.276+16903T=)
c.*220+5641A= (n.*220+5641A=)
c.257A= (p.Asp86=)
c.284A= (p.Asp95=)
c.1139A= (p.Asp380=)
c.953A= (p.Asp318=)
c.872A= (p.Asp291=)
c.578A= (p.Asp193=)
c.959A= (p.Asp320=)
2g.48688584C>ACA346748682GTF2A1L,LHCGR,STON1-GTF2A1Lc.1213G>T (p.Asp405Tyr)
c.948-445G>T (n.948-445G>T)
c.3441+16904C>A (n.3441+16904C>A)
c.948-1G>T (n.948-1G>T)
c.1132G>T (p.Asp378Tyr)
c.276+16904C>A (n.276+16904C>A)
c.*220+5640G>T (n.*220+5640G>T)
c.256G>T (p.Asp86Tyr)
c.283G>T (p.Asp95Tyr)
c.1138G>T (p.Asp380Tyr)
c.952G>T (p.Asp318Tyr)
c.871G>T (p.Asp291Tyr)
c.577G>T (p.Asp193Tyr)
c.958G>T (p.Asp320Tyr)
2g.48688584C>GCA346748683GTF2A1L,LHCGR,STON1-GTF2A1Lc.1213G>C (p.Asp405His)
c.948-445G>C (n.948-445G>C)
c.3441+16904C>G (n.3441+16904C>G)
c.948-1G>C (n.948-1G>C)
c.1132G>C (p.Asp378His)
c.276+16904C>G (n.276+16904C>G)
c.*220+5640G>C (n.*220+5640G>C)
c.256G>C (p.Asp86His)
c.283G>C (p.Asp95His)
c.1138G>C (p.Asp380His)
c.952G>C (p.Asp318His)
c.871G>C (p.Asp291His)
c.577G>C (p.Asp193His)
c.958G>C (p.Asp320His)
2g.48688584C>TCA346748684GTF2A1L,LHCGR,STON1-GTF2A1Lc.1213G>A (p.Asp405Asn)
c.948-445G>A (n.948-445G>A)
c.3441+16904C>T (n.3441+16904C>T)
c.948-1G>A (n.948-1G>A)
c.1132G>A (p.Asp378Asn)
c.276+16904C>T (n.276+16904C>T)
c.*220+5640G>A (n.*220+5640G>A)
c.256G>A (p.Asp86Asn)
c.283G>A (p.Asp95Asn)
c.1138G>A (p.Asp380Asn)
c.952G>A (p.Asp318Asn)
c.871G>A (p.Asp291Asn)
c.577G>A (p.Asp193Asn)
c.958G>A (p.Asp320Asn)
 gnomAD v4 COSMIC
2g.48688585T>ACA346748686GTF2A1L,LHCGR,STON1-GTF2A1Lc.1212A>T (p.Ala404=)
c.948-446A>T (n.948-446A>T)
c.3441+16905T>A (n.3441+16905T>A)
c.948-2A>T (n.948-2A>T)
c.1131A>T (p.Ala377=)
c.276+16905T>A (n.276+16905T>A)
c.*220+5639A>T (n.*220+5639A>T)
c.255A>T (p.Ala85=)
c.282A>T (p.Ala94=)
c.1137A>T (p.Ala379=)
c.951A>T (p.Ala317=)
c.870A>T (p.Ala290=)
c.576A>T (p.Ala192=)
c.957A>T (p.Ala319=)
2g.48688585T>CCA346748690GTF2A1L,LHCGR,STON1-GTF2A1Lc.1212A>G (p.Ala404=)
c.948-446A>G (n.948-446A>G)
c.3441+16905T>C (n.3441+16905T>C)
c.948-2A>G (n.948-2A>G)
c.1131A>G (p.Ala377=)
c.276+16905T>C (n.276+16905T>C)
c.*220+5639A>G (n.*220+5639A>G)
c.255A>G (p.Ala85=)
c.282A>G (p.Ala94=)
c.1137A>G (p.Ala379=)
c.951A>G (p.Ala317=)
c.870A>G (p.Ala290=)
c.576A>G (p.Ala192=)
c.957A>G (p.Ala319=)
2g.48688585T>GCA346748688GTF2A1L,LHCGR,STON1-GTF2A1Lc.1212A>C (p.Ala404=)
c.948-446A>C (n.948-446A>C)
c.3441+16905T>G (n.3441+16905T>G)
c.948-2A>C (n.948-2A>C)
c.1131A>C (p.Ala377=)
c.276+16905T>G (n.276+16905T>G)
c.*220+5639A>C (n.*220+5639A>C)
c.255A>C (p.Ala85=)
c.282A>C (p.Ala94=)
c.1137A>C (p.Ala379=)
c.951A>C (p.Ala317=)
c.870A>C (p.Ala290=)
c.576A>C (p.Ala192=)
c.957A>C (p.Ala319=)
2g.48688586G>ACA346748693GTF2A1L,LHCGR,STON1-GTF2A1Lc.1211C>T (p.Ala404Val)
c.948-447C>T (n.948-447C>T)
c.3441+16906G>A (n.3441+16906G>A)
c.948-3C>T (n.948-3C>T)
c.1130C>T (p.Ala377Val)
c.276+16906G>A (n.276+16906G>A)
c.*220+5638C>T (n.*220+5638C>T)
c.254C>T (p.Ala85Val)
c.281C>T (p.Ala94Val)
c.1136C>T (p.Ala379Val)
c.950C>T (p.Ala317Val)
c.869C>T (p.Ala290Val)
c.575C>T (p.Ala192Val)
c.956C>T (p.Ala319Val)
2g.48688586G>CCA346748696GTF2A1L,LHCGR,STON1-GTF2A1Lc.1211C>G (p.Ala404Gly)
c.948-447C>G (n.948-447C>G)
c.3441+16906G>C (n.3441+16906G>C)
c.948-3C>G (n.948-3C>G)
c.1130C>G (p.Ala377Gly)
c.276+16906G>C (n.276+16906G>C)
c.*220+5638C>G (n.*220+5638C>G)
c.254C>G (p.Ala85Gly)
c.281C>G (p.Ala94Gly)
c.1136C>G (p.Ala379Gly)
c.950C>G (p.Ala317Gly)
c.869C>G (p.Ala290Gly)
c.575C>G (p.Ala192Gly)
c.956C>G (p.Ala319Gly)
2g.48688586G>TCA346748698GTF2A1L,LHCGR,STON1-GTF2A1Lc.1211C>A (p.Ala404Glu)
c.948-447C>A (n.948-447C>A)
c.3441+16906G>T (n.3441+16906G>T)
c.948-3C>A (n.948-3C>A)
c.1130C>A (p.Ala377Glu)
c.276+16906G>T (n.276+16906G>T)
c.*220+5638C>A (n.*220+5638C>A)
c.254C>A (p.Ala85Glu)
c.281C>A (p.Ala94Glu)
c.1136C>A (p.Ala379Glu)
c.950C>A (p.Ala317Glu)
c.869C>A (p.Ala290Glu)
c.575C>A (p.Ala192Glu)
c.956C>A (p.Ala319Glu)

Number of alleles fetched