Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48687643_48687644delinsATCA1248600769GTF2A1L,LHCGR,STON1-GTF2A1Lc.*53_*54delinsAT (n.*53_*54delinsAT)
c.3441+15963_3441+15964delinsAT (n.3441+15963_3441+15964delinsAT)
c.2072_2073delinsAT (n.2072_2073delinsAT)
c.276+15963_276+15964delinsAT (n.276+15963_276+15964delinsAT)
c.*220+6580_*220+6581delinsAT (n.*220+6580_*220+6581delinsAT)
2g.48687644T>ACA2658992056GTF2A1L,LHCGR,STON1-GTF2A1Lc.*53A>T (n.*53A>T)
c.3441+15964T>A (n.3441+15964T>A)
c.2072A>T (n.2072A>T)
c.276+15964T>A (n.276+15964T>A)
c.*220+6580A>T (n.*220+6580A>T)
 gnomAD v4
2g.48687644T>CCA2658992057GTF2A1L,LHCGR,STON1-GTF2A1Lc.*53A>G (n.*53A>G)
c.3441+15964T>C (n.3441+15964T>C)
c.2072A>G (n.2072A>G)
c.276+15964T>C (n.276+15964T>C)
c.*220+6580A>G (n.*220+6580A>G)
 gnomAD v4
2g.48687652dupCA46752313GTF2A1L,LHCGR,STON1-GTF2A1Lc.*53dup (n.*53dup)
c.3441+15972dup (n.3441+15972dup)
c.2072dup (n.2072dup)
c.276+15972dup (n.276+15972dup)
c.*220+6580dup (n.*220+6580dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48687651_48687652dupCA769575090GTF2A1L,LHCGR,STON1-GTF2A1Lc.*52_*53dup (n.*52_*53dup)
c.3441+15971_3441+15972dup (n.3441+15971_3441+15972dup)
c.2071_2072dup (n.2071_2072dup)
c.276+15971_276+15972dup (n.276+15971_276+15972dup)
c.*220+6579_*220+6580dup (n.*220+6579_*220+6580dup)
 dbSNP gnomAD v4
2g.48687645_48687652dupCA2658992055GTF2A1L,LHCGR,STON1-GTF2A1Lc.*46_*53dup (n.*46_*53dup)
c.3441+15965_3441+15972dup (n.3441+15965_3441+15972dup)
c.2065_2072dup (n.2065_2072dup)
c.276+15965_276+15972dup (n.276+15965_276+15972dup)
c.*220+6573_*220+6580dup (n.*220+6573_*220+6580dup)
 gnomAD v4
2g.48687652delCA46752316GTF2A1L,LHCGR,STON1-GTF2A1Lc.*53del (n.*53del)
c.3441+15972del (n.3441+15972del)
c.2072del (n.2072del)
c.276+15972del (n.276+15972del)
c.*220+6580del (n.*220+6580del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687645T>GCA2576963452GTF2A1L,LHCGR,STON1-GTF2A1Lc.*52A>C (n.*52A>C)
c.3441+15965T>G (n.3441+15965T>G)
c.2071A>C (n.2071A>C)
c.276+15965T>G (n.276+15965T>G)
c.*220+6579A>C (n.*220+6579A>C)
2g.48687648T>CCA1652908GTF2A1L,LHCGR,STON1-GTF2A1Lc.*49A>G (n.*49A>G)
c.3441+15968T>C (n.3441+15968T>C)
c.2068A>G (n.2068A>G)
c.276+15968T>C (n.276+15968T>C)
c.*220+6576A>G (n.*220+6576A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687648T=CA1248600770GTF2A1L,LHCGR,STON1-GTF2A1Lc.*49A= (n.*49A=)
c.3441+15968T= (n.3441+15968T=)
c.2068A= (n.2068A=)
c.276+15968T= (n.276+15968T=)
c.*220+6576A= (n.*220+6576A=)
2g.48687652_48687657delinsTACAGGCA1248600771GTF2A1L,LHCGR,STON1-GTF2A1Lc.*40_*45delinsCCTGTA (n.*40_*45delinsCCTGTA)
c.3441+15972_3441+15977delinsTACAGG (n.3441+15972_3441+15977delinsTACAGG)
c.2059_2064delinsCCTGTA (n.2059_2064delinsCCTGTA)
c.276+15972_276+15977delinsTACAGG (n.276+15972_276+15977delinsTACAGG)
c.*220+6567_*220+6572delinsCCTGTA (n.*220+6567_*220+6572delinsCCTGTA)
2g.48687653delCA2576963453GTF2A1L,LHCGR,STON1-GTF2A1Lc.*44del (n.*44del)
c.3441+15973del (n.3441+15973del)
c.2063del (n.2063del)
c.276+15973del (n.276+15973del)
c.*220+6571del (n.*220+6571del)
2g.48687653A>GCA2658992058GTF2A1L,LHCGR,STON1-GTF2A1Lc.*44T>C (n.*44T>C)
c.3441+15973A>G (n.3441+15973A>G)
c.2063T>C (n.2063T>C)
c.276+15973A>G (n.276+15973A>G)
c.*220+6571T>C (n.*220+6571T>C)
 gnomAD v4
2g.48687653_48687657delCA532706149GTF2A1L,LHCGR,STON1-GTF2A1Lc.*40_*44del (n.*40_*44del)
c.3441+15973_3441+15977del (n.3441+15973_3441+15977del)
c.2059_2063del (n.2059_2063del)
c.276+15973_276+15977del (n.276+15973_276+15977del)
c.*220+6567_*220+6571del (n.*220+6567_*220+6571del)
 dbSNP gnomAD v2 gnomAD v4
2g.48687654C>TCA2658992059GTF2A1L,LHCGR,STON1-GTF2A1Lc.*43G>A (n.*43G>A)
c.3441+15974C>T (n.3441+15974C>T)
c.2062G>A (n.2062G>A)
c.276+15974C>T (n.276+15974C>T)
c.*220+6570G>A (n.*220+6570G>A)
 gnomAD v4
2g.48687654_48687657delCA2749836829GTF2A1L,LHCGR,STON1-GTF2A1Lc.*40_*43del (n.*40_*43del)
c.3441+15974_3441+15977del (n.3441+15974_3441+15977del)
c.2059_2062del (n.2059_2062del)
c.276+15974_276+15977del (n.276+15974_276+15977del)
c.*220+6567_*220+6570del (n.*220+6567_*220+6570del)
2g.48687655A=CA1248600772GTF2A1L,LHCGR,STON1-GTF2A1Lc.*42T= (n.*42T=)
c.3441+15975A= (n.3441+15975A=)
c.2061T= (n.2061T=)
c.276+15975A= (n.276+15975A=)
c.*220+6569T= (n.*220+6569T=)
2g.48687655A>GCA1652909GTF2A1L,LHCGR,STON1-GTF2A1Lc.*42T>C (n.*42T>C)
c.3441+15975A>G (n.3441+15975A>G)
c.2061T>C (n.2061T>C)
c.276+15975A>G (n.276+15975A>G)
c.*220+6569T>C (n.*220+6569T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687655A>TCA2749836830GTF2A1L,LHCGR,STON1-GTF2A1Lc.*42T>A (n.*42T>A)
c.3441+15975A>T (n.3441+15975A>T)
c.2061T>A (n.2061T>A)
c.276+15975A>T (n.276+15975A>T)
c.*220+6569T>A (n.*220+6569T>A)
2g.48687656G>CCA1652910GTF2A1L,LHCGR,STON1-GTF2A1Lc.*41C>G (n.*41C>G)
c.3441+15976G>C (n.3441+15976G>C)
c.2060C>G (n.2060C>G)
c.276+15976G>C (n.276+15976G>C)
c.*220+6568C>G (n.*220+6568C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687656G=CA1248600774GTF2A1L,LHCGR,STON1-GTF2A1Lc.*41C= (n.*41C=)
c.3441+15976G= (n.3441+15976G=)
c.2060C= (n.2060C=)
c.276+15976G= (n.276+15976G=)
c.*220+6568C= (n.*220+6568C=)
2g.48687656G>TCA1248600773GTF2A1L,LHCGR,STON1-GTF2A1Lc.*41C>A (n.*41C>A)
c.3441+15976G>T (n.3441+15976G>T)
c.2060C>A (n.2060C>A)
c.276+15976G>T (n.276+15976G>T)
c.*220+6568C>A (n.*220+6568C>A)
 dbSNP gnomAD v4
2g.48687657G=CA1248600775GTF2A1L,LHCGR,STON1-GTF2A1Lc.*40C= (n.*40C=)
c.3441+15977G= (n.3441+15977G=)
c.2059C= (n.2059C=)
c.276+15977G= (n.276+15977G=)
c.*220+6567C= (n.*220+6567C=)
2g.48687657G>TCA2658992060GTF2A1L,LHCGR,STON1-GTF2A1Lc.*40C>A (n.*40C>A)
c.3441+15977G>T (n.3441+15977G>T)
c.2059C>A (n.2059C>A)
c.276+15977G>T (n.276+15977G>T)
c.*220+6567C>A (n.*220+6567C>A)
 gnomAD v4
2g.48687660_48687661insTTTTTCA532706150GTF2A1L,LHCGR,STON1-GTF2A1Lc.*39_*40insAAAAA (n.*39_*40insAAAAA)
c.3441+15980_3441+15981insTTTTT (n.3441+15980_3441+15981insTTTTT)
c.2058_2059insAAAAA (n.2058_2059insAAAAA)
c.276+15980_276+15981insTTTTT (n.276+15980_276+15981insTTTTT)
c.*220+6566_*220+6567insAAAAA (n.*220+6566_*220+6567insAAAAA)
 dbSNP gnomAD v2
2g.48687659T>ACA769575123GTF2A1L,LHCGR,STON1-GTF2A1Lc.*38A>T (n.*38A>T)
c.3441+15979T>A (n.3441+15979T>A)
c.2057A>T (n.2057A>T)
c.276+15979T>A (n.276+15979T>A)
c.*220+6565A>T (n.*220+6565A>T)
 dbSNP gnomAD v3 gnomAD v4
2g.48687659T>GCA1652911GTF2A1L,LHCGR,STON1-GTF2A1Lc.*38A>C (n.*38A>C)
c.3441+15979T>G (n.3441+15979T>G)
c.2057A>C (n.2057A>C)
c.276+15979T>G (n.276+15979T>G)
c.*220+6565A>C (n.*220+6565A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687659T=CA1248600776GTF2A1L,LHCGR,STON1-GTF2A1Lc.*38A= (n.*38A=)
c.3441+15979T= (n.3441+15979T=)
c.2057A= (n.2057A=)
c.276+15979T= (n.276+15979T=)
c.*220+6565A= (n.*220+6565A=)
2g.48687659_48687666delinsTTAAGAACCA1248600777GTF2A1L,LHCGR,STON1-GTF2A1Lc.*31_*38delinsGTTCTTAA (n.*31_*38delinsGTTCTTAA)
c.3441+15979_3441+15986delinsTTAAGAAC (n.3441+15979_3441+15986delinsTTAAGAAC)
c.2050_2057delinsGTTCTTAA (n.2050_2057delinsGTTCTTAA)
c.276+15979_276+15986delinsTTAAGAAC (n.276+15979_276+15986delinsTTAAGAAC)
c.*220+6558_*220+6565delinsGTTCTTAA (n.*220+6558_*220+6565delinsGTTCTTAA)
2g.48687660_48687666delCA532706151GTF2A1L,LHCGR,STON1-GTF2A1Lc.*31_*37del (n.*31_*37del)
c.3441+15980_3441+15986del (n.3441+15980_3441+15986del)
c.2050_2056del (n.2050_2056del)
c.276+15980_276+15986del (n.276+15980_276+15986del)
c.*220+6558_*220+6564del (n.*220+6558_*220+6564del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687662A=CA1248600778GTF2A1L,LHCGR,STON1-GTF2A1Lc.*35T= (n.*35T=)
c.3441+15982A= (n.3441+15982A=)
c.2054T= (n.2054T=)
c.276+15982A= (n.276+15982A=)
c.*220+6562T= (n.*220+6562T=)
2g.48687662A>GCA1652912GTF2A1L,LHCGR,STON1-GTF2A1Lc.*35T>C (n.*35T>C)
c.3441+15982A>G (n.3441+15982A>G)
c.2054T>C (n.2054T>C)
c.276+15982A>G (n.276+15982A>G)
c.*220+6562T>C (n.*220+6562T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687663G>ACA2658992061GTF2A1L,LHCGR,STON1-GTF2A1Lc.*34C>T (n.*34C>T)
c.3441+15983G>A (n.3441+15983G>A)
c.2053C>T (n.2053C>T)
c.276+15983G>A (n.276+15983G>A)
c.*220+6561C>T (n.*220+6561C>T)
 gnomAD v4
2g.48687663G=CA1248600779GTF2A1L,LHCGR,STON1-GTF2A1Lc.*34C= (n.*34C=)
c.3441+15983G= (n.3441+15983G=)
c.2053C= (n.2053C=)
c.276+15983G= (n.276+15983G=)
c.*220+6561C= (n.*220+6561C=)
2g.48687663G>TCA1652913GTF2A1L,LHCGR,STON1-GTF2A1Lc.*34C>A (n.*34C>A)
c.3441+15983G>T (n.3441+15983G>T)
c.2053C>A (n.2053C>A)
c.276+15983G>T (n.276+15983G>T)
c.*220+6561C>A (n.*220+6561C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687664A>GCA2658992062GTF2A1L,LHCGR,STON1-GTF2A1Lc.*33T>C (n.*33T>C)
c.3441+15984A>G (n.3441+15984A>G)
c.2052T>C (n.2052T>C)
c.276+15984A>G (n.276+15984A>G)
c.*220+6560T>C (n.*220+6560T>C)
 gnomAD v4
2g.48687666C>ACA1030377852GTF2A1L,LHCGR,STON1-GTF2A1Lc.*31G>T (n.*31G>T)
c.3441+15986C>A (n.3441+15986C>A)
c.2050G>T (n.2050G>T)
c.276+15986C>A (n.276+15986C>A)
c.*220+6558G>T (n.*220+6558G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.48687666C=CA1248600780GTF2A1L,LHCGR,STON1-GTF2A1Lc.*31G= (n.*31G=)
c.3441+15986C= (n.3441+15986C=)
c.2050G= (n.2050G=)
c.276+15986C= (n.276+15986C=)
c.*220+6558G= (n.*220+6558G=)
2g.48687666C>TCA1652914GTF2A1L,LHCGR,STON1-GTF2A1Lc.*31G>A (n.*31G>A)
c.3441+15986C>T (n.3441+15986C>T)
c.2050G>A (n.2050G>A)
c.276+15986C>T (n.276+15986C>T)
c.*220+6558G>A (n.*220+6558G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687670_48687674delCA2658992063GTF2A1L,LHCGR,STON1-GTF2A1Lc.*27_*31del (n.*27_*31del)
c.3441+15990_3441+15994del (n.3441+15990_3441+15994del)
c.2046_2050del (n.2046_2050del)
c.276+15990_276+15994del (n.276+15990_276+15994del)
c.*220+6554_*220+6558del (n.*220+6554_*220+6558del)
 gnomAD v4
2g.48687668A>GCA2566064171GTF2A1L,LHCGR,STON1-GTF2A1Lc.*29T>C (n.*29T>C)
c.3441+15988A>G (n.3441+15988A>G)
c.2048T>C (n.2048T>C)
c.276+15988A>G (n.276+15988A>G)
c.*220+6556T>C (n.*220+6556T>C)
2g.48687670T>CCA2658992064GTF2A1L,LHCGR,STON1-GTF2A1Lc.*27A>G (n.*27A>G)
c.*439A>G (n.*439A>G)
c.3441+15990T>C (n.3441+15990T>C)
c.*871A>G (n.*871A>G)
c.2046A>G (n.2046A>G)
c.276+15990T>C (n.276+15990T>C)
c.*220+6554A>G (n.*220+6554A>G)
 gnomAD v4
2g.48687671C>ACA1652915GTF2A1L,LHCGR,STON1-GTF2A1Lc.*26G>T (n.*26G>T)
c.*438G>T (n.*438G>T)
c.3441+15991C>A (n.3441+15991C>A)
c.*870G>T (n.*870G>T)
c.2045G>T (n.2045G>T)
c.276+15991C>A (n.276+15991C>A)
c.*220+6553G>T (n.*220+6553G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687671C=CA1248600781GTF2A1L,LHCGR,STON1-GTF2A1Lc.*26G= (n.*26G=)
c.*438G= (n.*438G=)
c.3441+15991C= (n.3441+15991C=)
c.*870G= (n.*870G=)
c.2045G= (n.2045G=)
c.276+15991C= (n.276+15991C=)
c.*220+6553G= (n.*220+6553G=)
2g.48687671C>TCA2576963454GTF2A1L,LHCGR,STON1-GTF2A1Lc.*26G>A (n.*26G>A)
c.*438G>A (n.*438G>A)
c.3441+15991C>T (n.3441+15991C>T)
c.*870G>A (n.*870G>A)
c.2045G>A (n.2045G>A)
c.276+15991C>T (n.276+15991C>T)
c.*220+6553G>A (n.*220+6553G>A)
 gnomAD v4
2g.48687672A=CA1248600782GTF2A1L,LHCGR,STON1-GTF2A1Lc.*25T= (n.*25T=)
c.*437T= (n.*437T=)
c.3441+15992A= (n.3441+15992A=)
c.*869T= (n.*869T=)
c.2044T= (n.2044T=)
c.276+15992A= (n.276+15992A=)
c.*220+6552T= (n.*220+6552T=)
2g.48687672A>CCA2658992065GTF2A1L,LHCGR,STON1-GTF2A1Lc.*25T>G (n.*25T>G)
c.*437T>G (n.*437T>G)
c.3441+15992A>C (n.3441+15992A>C)
c.*869T>G (n.*869T>G)
c.2044T>G (n.2044T>G)
c.276+15992A>C (n.276+15992A>C)
c.*220+6552T>G (n.*220+6552T>G)
 gnomAD v4
2g.48687672A>GCA1652916GTF2A1L,LHCGR,STON1-GTF2A1Lc.*25T>C (n.*25T>C)
c.*437T>C (n.*437T>C)
c.3441+15992A>G (n.3441+15992A>G)
c.*869T>C (n.*869T>C)
c.2044T>C (n.2044T>C)
c.276+15992A>G (n.276+15992A>G)
c.*220+6552T>C (n.*220+6552T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687673A=CA1248600783GTF2A1L,LHCGR,STON1-GTF2A1Lc.*24T= (n.*24T=)
c.*436T= (n.*436T=)
c.3441+15993A= (n.3441+15993A=)
c.*868T= (n.*868T=)
c.2043T= (n.2043T=)
c.276+15993A= (n.276+15993A=)
c.*220+6551T= (n.*220+6551T=)
2g.48687673A>CCA532706152GTF2A1L,LHCGR,STON1-GTF2A1Lc.*24T>G (n.*24T>G)
c.*436T>G (n.*436T>G)
c.3441+15993A>C (n.3441+15993A>C)
c.*868T>G (n.*868T>G)
c.2043T>G (n.2043T>G)
c.276+15993A>C (n.276+15993A>C)
c.*220+6551T>G (n.*220+6551T>G)
 dbSNP gnomAD v2 gnomAD v4
2g.48687673A>GCA1652917GTF2A1L,LHCGR,STON1-GTF2A1Lc.*24T>C (n.*24T>C)
c.*436T>C (n.*436T>C)
c.3441+15993A>G (n.3441+15993A>G)
c.*868T>C (n.*868T>C)
c.2043T>C (n.2043T>C)
c.276+15993A>G (n.276+15993A>G)
c.*220+6551T>C (n.*220+6551T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687673_48687674delinsATCA1248600784GTF2A1L,LHCGR,STON1-GTF2A1Lc.*23_*24delinsAT (n.*23_*24delinsAT)
c.*435_*436delinsAT (n.*435_*436delinsAT)
c.3441+15993_3441+15994delinsAT (n.3441+15993_3441+15994delinsAT)
c.*867_*868delinsAT (n.*867_*868delinsAT)
c.2042_2043delinsAT (n.2042_2043delinsAT)
c.276+15993_276+15994delinsAT (n.276+15993_276+15994delinsAT)
c.*220+6550_*220+6551delinsAT (n.*220+6550_*220+6551delinsAT)
2g.48687674delCA1652918GTF2A1L,LHCGR,STON1-GTF2A1Lc.*23del (n.*23del)
c.*435del (n.*435del)
c.3441+15994del (n.3441+15994del)
c.*867del (n.*867del)
c.2042del (n.2042del)
c.276+15994del (n.276+15994del)
c.*220+6550del (n.*220+6550del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687674T>ACA2658992066GTF2A1L,LHCGR,STON1-GTF2A1Lc.*23A>T (n.*23A>T)
c.*435A>T (n.*435A>T)
c.3441+15994T>A (n.3441+15994T>A)
c.*867A>T (n.*867A>T)
c.2042A>T (n.2042A>T)
c.276+15994T>A (n.276+15994T>A)
c.*220+6550A>T (n.*220+6550A>T)
 gnomAD v4
2g.48687675A=CA1248600785GTF2A1L,LHCGR,STON1-GTF2A1Lc.*22T= (n.*22T=)
c.*434T= (n.*434T=)
c.3441+15995A= (n.3441+15995A=)
c.*866T= (n.*866T=)
c.2041T= (n.2041T=)
c.276+15995A= (n.276+15995A=)
c.*220+6549T= (n.*220+6549T=)
2g.48687675A>CCA1652919GTF2A1L,LHCGR,STON1-GTF2A1Lc.*22T>G (n.*22T>G)
c.*434T>G (n.*434T>G)
c.3441+15995A>C (n.3441+15995A>C)
c.*866T>G (n.*866T>G)
c.2041T>G (n.2041T>G)
c.276+15995A>C (n.276+15995A>C)
c.*220+6549T>G (n.*220+6549T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687676A>GCA2576963455GTF2A1L,LHCGR,STON1-GTF2A1Lc.*21T>C (n.*21T>C)
c.*433T>C (n.*433T>C)
c.3441+15996A>G (n.3441+15996A>G)
c.*865T>C (n.*865T>C)
c.2040T>C (n.2040T>C)
c.276+15996A>G (n.276+15996A>G)
c.*220+6548T>C (n.*220+6548T>C)
2g.48687677T>CCA532706153GTF2A1L,LHCGR,STON1-GTF2A1Lc.*20A>G (n.*20A>G)
c.*432A>G (n.*432A>G)
c.3441+15997T>C (n.3441+15997T>C)
c.*864A>G (n.*864A>G)
c.2039A>G (n.2039A>G)
c.276+15997T>C (n.276+15997T>C)
c.*220+6547A>G (n.*220+6547A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687677T=CA1248600786GTF2A1L,LHCGR,STON1-GTF2A1Lc.*20A= (n.*20A=)
c.*432A= (n.*432A=)
c.3441+15997T= (n.3441+15997T=)
c.*864A= (n.*864A=)
c.2039A= (n.2039A=)
c.276+15997T= (n.276+15997T=)
c.*220+6547A= (n.*220+6547A=)
2g.48687678G>TCA2658992067GTF2A1L,LHCGR,STON1-GTF2A1Lc.*19C>A (n.*19C>A)
c.*431C>A (n.*431C>A)
c.3441+15998G>T (n.3441+15998G>T)
c.*863C>A (n.*863C>A)
c.2038C>A (n.2038C>A)
c.276+15998G>T (n.276+15998G>T)
c.*220+6546C>A (n.*220+6546C>A)
 gnomAD v4
2g.48687679C>TCA2658992068GTF2A1L,LHCGR,STON1-GTF2A1Lc.*18G>A (n.*18G>A)
c.*430G>A (n.*430G>A)
c.3441+15999C>T (n.3441+15999C>T)
c.*862G>A (n.*862G>A)
c.2037G>A (n.2037G>A)
c.276+15999C>T (n.276+15999C>T)
c.*220+6545G>A (n.*220+6545G>A)
 gnomAD v4
2g.48687681G>ACA2658992069GTF2A1L,LHCGR,STON1-GTF2A1Lc.*16C>T (n.*16C>T)
c.*428C>T (n.*428C>T)
c.3441+16001G>A (n.3441+16001G>A)
c.*860C>T (n.*860C>T)
c.2035C>T (n.2035C>T)
c.276+16001G>A (n.276+16001G>A)
c.*220+6543C>T (n.*220+6543C>T)
 gnomAD v4
2g.48687681G=CA1248600787GTF2A1L,LHCGR,STON1-GTF2A1Lc.*16C= (n.*16C=)
c.*428C= (n.*428C=)
c.3441+16001G= (n.3441+16001G=)
c.*860C= (n.*860C=)
c.2035C= (n.2035C=)
c.276+16001G= (n.276+16001G=)
c.*220+6543C= (n.*220+6543C=)
2g.48687681G>TCA1652920GTF2A1L,LHCGR,STON1-GTF2A1Lc.*16C>A (n.*16C>A)
c.*428C>A (n.*428C>A)
c.3441+16001G>T (n.3441+16001G>T)
c.*860C>A (n.*860C>A)
c.2035C>A (n.2035C>A)
c.276+16001G>T (n.276+16001G>T)
c.*220+6543C>A (n.*220+6543C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687682T>CCA2658992070GTF2A1L,LHCGR,STON1-GTF2A1Lc.*15A>G (n.*15A>G)
c.*427A>G (n.*427A>G)
c.3441+16002T>C (n.3441+16002T>C)
c.*859A>G (n.*859A>G)
c.2034A>G (n.2034A>G)
c.276+16002T>C (n.276+16002T>C)
c.*220+6542A>G (n.*220+6542A>G)
 gnomAD v4
2g.48687682T>GCA2576963456GTF2A1L,LHCGR,STON1-GTF2A1Lc.*15A>C (n.*15A>C)
c.*427A>C (n.*427A>C)
c.3441+16002T>G (n.3441+16002T>G)
c.*859A>C (n.*859A>C)
c.2034A>C (n.2034A>C)
c.276+16002T>G (n.276+16002T>G)
c.*220+6542A>C (n.*220+6542A>C)
2g.48687683T>CCA1248600788GTF2A1L,LHCGR,STON1-GTF2A1Lc.*14A>G (n.*14A>G)
c.*426A>G (n.*426A>G)
c.3441+16003T>C (n.3441+16003T>C)
c.*858A>G (n.*858A>G)
c.2033A>G (n.2033A>G)
c.276+16003T>C (n.276+16003T>C)
c.*220+6541A>G (n.*220+6541A>G)
 dbSNP
2g.48687683T=CA1248600789GTF2A1L,LHCGR,STON1-GTF2A1Lc.*14A= (n.*14A=)
c.*426A= (n.*426A=)
c.3441+16003T= (n.3441+16003T=)
c.*858A= (n.*858A=)
c.2033A= (n.2033A=)
c.276+16003T= (n.276+16003T=)
c.*220+6541A= (n.*220+6541A=)
2g.48687684A>GCA2576963457GTF2A1L,LHCGR,STON1-GTF2A1Lc.*13T>C (n.*13T>C)
c.*425T>C (n.*425T>C)
c.3441+16004A>G (n.3441+16004A>G)
c.*857T>C (n.*857T>C)
c.2032T>C (n.2032T>C)
c.276+16004A>G (n.276+16004A>G)
c.*220+6540T>C (n.*220+6540T>C)
2g.48687684A>TCA2658992071GTF2A1L,LHCGR,STON1-GTF2A1Lc.*13T>A (n.*13T>A)
c.*425T>A (n.*425T>A)
c.3441+16004A>T (n.3441+16004A>T)
c.*857T>A (n.*857T>A)
c.2032T>A (n.2032T>A)
c.276+16004A>T (n.276+16004A>T)
c.*220+6540T>A (n.*220+6540T>A)
 gnomAD v4
2g.48687685C>ACA532706154GTF2A1L,LHCGR,STON1-GTF2A1Lc.*12G>T (n.*12G>T)
c.*424G>T (n.*424G>T)
c.3441+16005C>A (n.3441+16005C>A)
c.*856G>T (n.*856G>T)
c.2031G>T (n.2031G>T)
c.276+16005C>A (n.276+16005C>A)
c.*220+6539G>T (n.*220+6539G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.48687685C=CA1248600790GTF2A1L,LHCGR,STON1-GTF2A1Lc.*12G= (n.*12G=)
c.*424G= (n.*424G=)
c.3441+16005C= (n.3441+16005C=)
c.*856G= (n.*856G=)
c.2031G= (n.2031G=)
c.276+16005C= (n.276+16005C=)
c.*220+6539G= (n.*220+6539G=)
2g.48687685C>GCA1248600791GTF2A1L,LHCGR,STON1-GTF2A1Lc.*12G>C (n.*12G>C)
c.*424G>C (n.*424G>C)
c.3441+16005C>G (n.3441+16005C>G)
c.*856G>C (n.*856G>C)
c.2031G>C (n.2031G>C)
c.276+16005C>G (n.276+16005C>G)
c.*220+6539G>C (n.*220+6539G>C)
 dbSNP gnomAD v4
2g.48687687G>ACA769575166GTF2A1L,LHCGR,STON1-GTF2A1Lc.*10C>T (n.*10C>T)
c.*422C>T (n.*422C>T)
c.3441+16007G>A (n.3441+16007G>A)
c.*854C>T (n.*854C>T)
c.2029C>T (n.2029C>T)
c.276+16007G>A (n.276+16007G>A)
c.*220+6537C>T (n.*220+6537C>T)
 dbSNP
2g.48687687G=CA1248600792GTF2A1L,LHCGR,STON1-GTF2A1Lc.*10C= (n.*10C=)
c.*422C= (n.*422C=)
c.3441+16007G= (n.3441+16007G=)
c.*854C= (n.*854C=)
c.2029C= (n.2029C=)
c.276+16007G= (n.276+16007G=)
c.*220+6537C= (n.*220+6537C=)
2g.48687687G>TCA2658992072GTF2A1L,LHCGR,STON1-GTF2A1Lc.*10C>A (n.*10C>A)
c.*422C>A (n.*422C>A)
c.3441+16007G>T (n.3441+16007G>T)
c.*854C>A (n.*854C>A)
c.2029C>A (n.2029C>A)
c.276+16007G>T (n.276+16007G>T)
c.*220+6537C>A (n.*220+6537C>A)
 gnomAD v4
2g.48687688A>CCA2658992073GTF2A1L,LHCGR,STON1-GTF2A1Lc.*9T>G (n.*9T>G)
c.*421T>G (n.*421T>G)
c.3441+16008A>C (n.3441+16008A>C)
c.*853T>G (n.*853T>G)
c.2028T>G (n.2028T>G)
c.276+16008A>C (n.276+16008A>C)
c.*220+6536T>G (n.*220+6536T>G)
 gnomAD v4
2g.48687689T>CCA532706155GTF2A1L,LHCGR,STON1-GTF2A1Lc.*8A>G (n.*8A>G)
c.*420A>G (n.*420A>G)
c.3441+16009T>C (n.3441+16009T>C)
c.*852A>G (n.*852A>G)
c.2027A>G (n.2027A>G)
c.276+16009T>C (n.276+16009T>C)
c.*220+6535A>G (n.*220+6535A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.48687689T=CA1248600793GTF2A1L,LHCGR,STON1-GTF2A1Lc.*8A= (n.*8A=)
c.*420A= (n.*420A=)
c.3441+16009T= (n.3441+16009T=)
c.*852A= (n.*852A=)
c.2027A= (n.2027A=)
c.276+16009T= (n.276+16009T=)
c.*220+6535A= (n.*220+6535A=)
2g.48687690G>ACA1652921GTF2A1L,LHCGR,STON1-GTF2A1Lc.*7C>T (n.*7C>T)
c.*419C>T (n.*419C>T)
c.3441+16010G>A (n.3441+16010G>A)
c.*851C>T (n.*851C>T)
c.2026C>T (n.2026C>T)
c.276+16010G>A (n.276+16010G>A)
c.*220+6534C>T (n.*220+6534C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687690G>CCA1652922GTF2A1L,LHCGR,STON1-GTF2A1Lc.*7C>G (n.*7C>G)
c.*419C>G (n.*419C>G)
c.3441+16010G>C (n.3441+16010G>C)
c.*851C>G (n.*851C>G)
c.2026C>G (n.2026C>G)
c.276+16010G>C (n.276+16010G>C)
c.*220+6534C>G (n.*220+6534C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687690G=CA1248600794GTF2A1L,LHCGR,STON1-GTF2A1Lc.*7C= (n.*7C=)
c.*419C= (n.*419C=)
c.3441+16010G= (n.3441+16010G=)
c.*851C= (n.*851C=)
c.2026C= (n.2026C=)
c.276+16010G= (n.276+16010G=)
c.*220+6534C= (n.*220+6534C=)
2g.48687692A=CA1248600795GTF2A1L,LHCGR,STON1-GTF2A1Lc.*5T= (n.*5T=)
c.*417T= (n.*417T=)
c.3441+16012A= (n.3441+16012A=)
c.*849T= (n.*849T=)
c.2024T= (n.2024T=)
c.276+16012A= (n.276+16012A=)
c.*220+6532T= (n.*220+6532T=)
2g.48687692A>CCA1652924GTF2A1L,LHCGR,STON1-GTF2A1Lc.*5T>G (n.*5T>G)
c.*417T>G (n.*417T>G)
c.3441+16012A>C (n.3441+16012A>C)
c.*849T>G (n.*849T>G)
c.2024T>G (n.2024T>G)
c.276+16012A>C (n.276+16012A>C)
c.*220+6532T>G (n.*220+6532T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687692A>GCA1652923GTF2A1L,LHCGR,STON1-GTF2A1Lc.*5T>C (n.*5T>C)
c.*417T>C (n.*417T>C)
c.3441+16012A>G (n.3441+16012A>G)
c.*849T>C (n.*849T>C)
c.2024T>C (n.2024T>C)
c.276+16012A>G (n.276+16012A>G)
c.*220+6532T>C (n.*220+6532T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687692A>TCA532706156GTF2A1L,LHCGR,STON1-GTF2A1Lc.*5T>A (n.*5T>A)
c.*417T>A (n.*417T>A)
c.3441+16012A>T (n.3441+16012A>T)
c.*849T>A (n.*849T>A)
c.2024T>A (n.2024T>A)
c.276+16012A>T (n.276+16012A>T)
c.*220+6532T>A (n.*220+6532T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.48687693A=CA1248600796GTF2A1L,LHCGR,STON1-GTF2A1Lc.*4T= (n.*4T=)
c.*416T= (n.*416T=)
c.3441+16013A= (n.3441+16013A=)
c.*848T= (n.*848T=)
c.2023T= (n.2023T=)
c.276+16013A= (n.276+16013A=)
c.*220+6531T= (n.*220+6531T=)
2g.48687693A>GCA1652925GTF2A1L,LHCGR,STON1-GTF2A1Lc.*4T>C (n.*4T>C)
c.*416T>C (n.*416T>C)
c.3441+16013A>G (n.3441+16013A>G)
c.*848T>C (n.*848T>C)
c.2023T>C (n.2023T>C)
c.276+16013A>G (n.276+16013A>G)
c.*220+6531T>C (n.*220+6531T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687694C>TCA2658992074GTF2A1L,LHCGR,STON1-GTF2A1Lc.*3G>A (n.*3G>A)
c.*415G>A (n.*415G>A)
c.3441+16014C>T (n.3441+16014C>T)
c.*847G>A (n.*847G>A)
c.2022G>A (n.2022G>A)
c.276+16014C>T (n.276+16014C>T)
c.*220+6530G>A (n.*220+6530G>A)
 gnomAD v4
2g.48687695A>TCA2658992075GTF2A1L,LHCGR,STON1-GTF2A1Lc.*2T>A (n.*2T>A)
c.*414T>A (n.*414T>A)
c.3441+16015A>T (n.3441+16015A>T)
c.*846T>A (n.*846T>A)
c.2021T>A (n.2021T>A)
c.276+16015A>T (n.276+16015A>T)
c.*220+6529T>A (n.*220+6529T>A)
 gnomAD v4
2g.48687696G>ACA769575175GTF2A1L,LHCGR,STON1-GTF2A1Lc.*1C>T (n.*1C>T)
c.*413C>T (n.*413C>T)
c.3441+16016G>A (n.3441+16016G>A)
c.*845C>T (n.*845C>T)
c.2020C>T (n.2020C>T)
c.276+16016G>A (n.276+16016G>A)
c.*220+6528C>T (n.*220+6528C>T)
 dbSNP
2g.48687696G=CA1248600797GTF2A1L,LHCGR,STON1-GTF2A1Lc.*1C= (n.*1C=)
c.*413C= (n.*413C=)
c.3441+16016G= (n.3441+16016G=)
c.*845C= (n.*845C=)
c.2020C= (n.2020C=)
c.276+16016G= (n.276+16016G=)
c.*220+6528C= (n.*220+6528C=)
2g.48687696G>TCA646657342GTF2A1L,LHCGR,STON1-GTF2A1Lc.*1C>A (n.*1C>A)
c.*413C>A (n.*413C>A)
c.3441+16016G>T (n.3441+16016G>T)
c.*845C>A (n.*845C>A)
c.2020C>A (n.2020C>A)
c.276+16016G>T (n.276+16016G>T)
c.*220+6528C>A (n.*220+6528C>A)
 gnomAD v4 COSMIC
2g.48687697T>ACA346742731GTF2A1L,LHCGR,STON1-GTF2A1Lc.2100A>T (p.Ter700Tyr)
c.*412A>T (n.*412A>T)
c.3441+16017T>A (n.3441+16017T>A)
c.*844A>T (n.*844A>T)
c.2019A>T (p.Ter673Tyr)
c.276+16017T>A (n.276+16017T>A)
c.*220+6527A>T (n.*220+6527A>T)
c.1143A>T (p.Ter381Tyr)
c.1170A>T (p.Ter390Tyr)
c.2025A>T (p.Ter675Tyr)
c.1839A>T (p.Ter613Tyr)
c.1758A>T (p.Ter586Tyr)
c.1464A>T (p.Ter488Tyr)
c.1845A>T (p.Ter615Tyr)
2g.48687697T>CCA426124441GTF2A1L,LHCGR,STON1-GTF2A1Lc.2100A>G (p.Ter700=)
c.*412A>G (n.*412A>G)
c.3441+16017T>C (n.3441+16017T>C)
c.*844A>G (n.*844A>G)
c.2019A>G (p.Ter673=)
c.276+16017T>C (n.276+16017T>C)
c.*220+6527A>G (n.*220+6527A>G)
c.1143A>G (p.Ter381=)
c.1170A>G (p.Ter390=)
c.2025A>G (p.Ter675=)
c.1839A>G (p.Ter613=)
c.1758A>G (p.Ter586=)
c.1464A>G (p.Ter488=)
c.1845A>G (p.Ter615=)
2g.48687697T>GCA346742734GTF2A1L,LHCGR,STON1-GTF2A1Lc.2100A>C (p.Ter700Tyr)
c.*412A>C (n.*412A>C)
c.3441+16017T>G (n.3441+16017T>G)
c.*844A>C (n.*844A>C)
c.2019A>C (p.Ter673Tyr)
c.276+16017T>G (n.276+16017T>G)
c.*220+6527A>C (n.*220+6527A>C)
c.1143A>C (p.Ter381Tyr)
c.1170A>C (p.Ter390Tyr)
c.2025A>C (p.Ter675Tyr)
c.1839A>C (p.Ter613Tyr)
c.1758A>C (p.Ter586Tyr)
c.1464A>C (p.Ter488Tyr)
c.1845A>C (p.Ter615Tyr)
2g.48687698T>ACA346742736GTF2A1L,LHCGR,STON1-GTF2A1Lc.2099A>T (p.Ter700Leu)
c.*411A>T (n.*411A>T)
c.3441+16018T>A (n.3441+16018T>A)
c.*843A>T (n.*843A>T)
c.2018A>T (p.Ter673Leu)
c.276+16018T>A (n.276+16018T>A)
c.*220+6526A>T (n.*220+6526A>T)
c.1142A>T (p.Ter381Leu)
c.1169A>T (p.Ter390Leu)
c.2024A>T (p.Ter675Leu)
c.1838A>T (p.Ter613Leu)
c.1757A>T (p.Ter586Leu)
c.1463A>T (p.Ter488Leu)
c.1844A>T (p.Ter615Leu)
2g.48687698T>CCA426124442GTF2A1L,LHCGR,STON1-GTF2A1Lc.2099A>G (p.Ter700=)
c.*411A>G (n.*411A>G)
c.3441+16018T>C (n.3441+16018T>C)
c.*843A>G (n.*843A>G)
c.2018A>G (p.Ter673=)
c.276+16018T>C (n.276+16018T>C)
c.*220+6526A>G (n.*220+6526A>G)
c.1142A>G (p.Ter381=)
c.1169A>G (p.Ter390=)
c.2024A>G (p.Ter675=)
c.1838A>G (p.Ter613=)
c.1757A>G (p.Ter586=)
c.1463A>G (p.Ter488=)
c.1844A>G (p.Ter615=)
 gnomAD v4
2g.48687698T>GCA346742738GTF2A1L,LHCGR,STON1-GTF2A1Lc.2099A>C (p.Ter700Ser)
c.*411A>C (n.*411A>C)
c.3441+16018T>G (n.3441+16018T>G)
c.*843A>C (n.*843A>C)
c.2018A>C (p.Ter673Ser)
c.276+16018T>G (n.276+16018T>G)
c.*220+6526A>C (n.*220+6526A>C)
c.1142A>C (p.Ter381Ser)
c.1169A>C (p.Ter390Ser)
c.2024A>C (p.Ter675Ser)
c.1838A>C (p.Ter613Ser)
c.1757A>C (p.Ter586Ser)
c.1463A>C (p.Ter488Ser)
c.1844A>C (p.Ter615Ser)
2g.48687699A>CCA346742740GTF2A1L,LHCGR,STON1-GTF2A1Lc.2098T>G (p.Ter700Glu)
c.*410T>G (n.*410T>G)
c.3441+16019A>C (n.3441+16019A>C)
c.*842T>G (n.*842T>G)
c.2017T>G (p.Ter673Glu)
c.276+16019A>C (n.276+16019A>C)
c.*220+6525T>G (n.*220+6525T>G)
c.1141T>G (p.Ter381Glu)
c.1168T>G (p.Ter390Glu)
c.2023T>G (p.Ter675Glu)
c.1837T>G (p.Ter613Glu)
c.1756T>G (p.Ter586Glu)
c.1462T>G (p.Ter488Glu)
c.1843T>G (p.Ter615Glu)
2g.48687699A>GCA346742741GTF2A1L,LHCGR,STON1-GTF2A1Lc.2098T>C (p.Ter700Gln)
c.*410T>C (n.*410T>C)
c.3441+16019A>G (n.3441+16019A>G)
c.*842T>C (n.*842T>C)
c.2017T>C (p.Ter673Gln)
c.276+16019A>G (n.276+16019A>G)
c.*220+6525T>C (n.*220+6525T>C)
c.1141T>C (p.Ter381Gln)
c.1168T>C (p.Ter390Gln)
c.2023T>C (p.Ter675Gln)
c.1837T>C (p.Ter613Gln)
c.1756T>C (p.Ter586Gln)
c.1462T>C (p.Ter488Gln)
c.1843T>C (p.Ter615Gln)
2g.48687699A>TCA346742742GTF2A1L,LHCGR,STON1-GTF2A1Lc.2098T>A (p.Ter700Lys)
c.*410T>A (n.*410T>A)
c.3441+16019A>T (n.3441+16019A>T)
c.*842T>A (n.*842T>A)
c.2017T>A (p.Ter673Lys)
c.276+16019A>T (n.276+16019A>T)
c.*220+6525T>A (n.*220+6525T>A)
c.1141T>A (p.Ter381Lys)
c.1168T>A (p.Ter390Lys)
c.2023T>A (p.Ter675Lys)
c.1837T>A (p.Ter613Lys)
c.1756T>A (p.Ter586Lys)
c.1462T>A (p.Ter488Lys)
c.1843T>A (p.Ter615Lys)
2g.48687700A>CCA346742743GTF2A1L,LHCGR,STON1-GTF2A1Lc.2097T>G (p.Cys699Trp)
c.*409T>G (n.*409T>G)
c.3441+16020A>C (n.3441+16020A>C)
c.*841T>G (n.*841T>G)
c.2016T>G (p.Cys672Trp)
c.276+16020A>C (n.276+16020A>C)
c.*220+6524T>G (n.*220+6524T>G)
c.1140T>G (p.Cys380Trp)
c.1167T>G (p.Cys389Trp)
c.2022T>G (p.Cys674Trp)
c.1836T>G (p.Cys612Trp)
c.1755T>G (p.Cys585Trp)
c.1461T>G (p.Cys487Trp)
c.1842T>G (p.Cys614Trp)
2g.48687700A>GCA426124443GTF2A1L,LHCGR,STON1-GTF2A1Lc.2097T>C (p.Cys699=)
c.*409T>C (n.*409T>C)
c.3441+16020A>G (n.3441+16020A>G)
c.*841T>C (n.*841T>C)
c.2016T>C (p.Cys672=)
c.276+16020A>G (n.276+16020A>G)
c.*220+6524T>C (n.*220+6524T>C)
c.1140T>C (p.Cys380=)
c.1167T>C (p.Cys389=)
c.2022T>C (p.Cys674=)
c.1836T>C (p.Cys612=)
c.1755T>C (p.Cys585=)
c.1461T>C (p.Cys487=)
c.1842T>C (p.Cys614=)
2g.48687700A>TCA346742744GTF2A1L,LHCGR,STON1-GTF2A1Lc.2097T>A (p.Cys699Ter)
c.*409T>A (n.*409T>A)
c.3441+16020A>T (n.3441+16020A>T)
c.*841T>A (n.*841T>A)
c.2016T>A (p.Cys672Ter)
c.276+16020A>T (n.276+16020A>T)
c.*220+6524T>A (n.*220+6524T>A)
c.1140T>A (p.Cys380Ter)
c.1167T>A (p.Cys389Ter)
c.2022T>A (p.Cys674Ter)
c.1836T>A (p.Cys612Ter)
c.1755T>A (p.Cys585Ter)
c.1461T>A (p.Cys487Ter)
c.1842T>A (p.Cys614Ter)
2g.48687701C>ACA1652926GTF2A1L,LHCGR,STON1-GTF2A1Lc.2096G>T (p.Cys699Phe)
c.*408G>T (n.*408G>T)
c.3441+16021C>A (n.3441+16021C>A)
c.*840G>T (n.*840G>T)
c.2015G>T (p.Cys672Phe)
c.276+16021C>A (n.276+16021C>A)
c.*220+6523G>T (n.*220+6523G>T)
c.1139G>T (p.Cys380Phe)
c.1166G>T (p.Cys389Phe)
c.2021G>T (p.Cys674Phe)
c.1835G>T (p.Cys612Phe)
c.1754G>T (p.Cys585Phe)
c.1460G>T (p.Cys487Phe)
c.1841G>T (p.Cys614Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687701C=CA1248600798GTF2A1L,LHCGR,STON1-GTF2A1Lc.2096G= (p.Cys699=)
c.*408G= (n.*408G=)
c.3441+16021C= (n.3441+16021C=)
c.*840G= (n.*840G=)
c.2015G= (p.Cys672=)
c.276+16021C= (n.276+16021C=)
c.*220+6523G= (n.*220+6523G=)
c.1139G= (p.Cys380=)
c.1166G= (p.Cys389=)
c.2021G= (p.Cys674=)
c.1835G= (p.Cys612=)
c.1754G= (p.Cys585=)
c.1460G= (p.Cys487=)
c.1841G= (p.Cys614=)
2g.48687701C>GCA346742748GTF2A1L,LHCGR,STON1-GTF2A1Lc.2096G>C (p.Cys699Ser)
c.*408G>C (n.*408G>C)
c.3441+16021C>G (n.3441+16021C>G)
c.*840G>C (n.*840G>C)
c.2015G>C (p.Cys672Ser)
c.276+16021C>G (n.276+16021C>G)
c.*220+6523G>C (n.*220+6523G>C)
c.1139G>C (p.Cys380Ser)
c.1166G>C (p.Cys389Ser)
c.2021G>C (p.Cys674Ser)
c.1835G>C (p.Cys612Ser)
c.1754G>C (p.Cys585Ser)
c.1460G>C (p.Cys487Ser)
c.1841G>C (p.Cys614Ser)
2g.48687701C>TCA346742747GTF2A1L,LHCGR,STON1-GTF2A1Lc.2096G>A (p.Cys699Tyr)
c.*408G>A (n.*408G>A)
c.3441+16021C>T (n.3441+16021C>T)
c.*840G>A (n.*840G>A)
c.2015G>A (p.Cys672Tyr)
c.276+16021C>T (n.276+16021C>T)
c.*220+6523G>A (n.*220+6523G>A)
c.1139G>A (p.Cys380Tyr)
c.1166G>A (p.Cys389Tyr)
c.2021G>A (p.Cys674Tyr)
c.1835G>A (p.Cys612Tyr)
c.1754G>A (p.Cys585Tyr)
c.1460G>A (p.Cys487Tyr)
c.1841G>A (p.Cys614Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.48687702A=CA1248600799GTF2A1L,LHCGR,STON1-GTF2A1Lc.2095T= (p.Cys699=)
c.*407T= (n.*407T=)
c.3441+16022A= (n.3441+16022A=)
c.*839T= (n.*839T=)
c.2014T= (p.Cys672=)
c.276+16022A= (n.276+16022A=)
c.*220+6522T= (n.*220+6522T=)
c.1138T= (p.Cys380=)
c.1165T= (p.Cys389=)
c.2020T= (p.Cys674=)
c.1834T= (p.Cys612=)
c.1753T= (p.Cys585=)
c.1459T= (p.Cys487=)
c.1840T= (p.Cys614=)
2g.48687702A>CCA346742756GTF2A1L,LHCGR,STON1-GTF2A1Lc.2095T>G (p.Cys699Gly)
c.*407T>G (n.*407T>G)
c.3441+16022A>C (n.3441+16022A>C)
c.*839T>G (n.*839T>G)
c.2014T>G (p.Cys672Gly)
c.276+16022A>C (n.276+16022A>C)
c.*220+6522T>G (n.*220+6522T>G)
c.1138T>G (p.Cys380Gly)
c.1165T>G (p.Cys389Gly)
c.2020T>G (p.Cys674Gly)
c.1834T>G (p.Cys612Gly)
c.1753T>G (p.Cys585Gly)
c.1459T>G (p.Cys487Gly)
c.1840T>G (p.Cys614Gly)
2g.48687702A>GCA346742754GTF2A1L,LHCGR,STON1-GTF2A1Lc.2095T>C (p.Cys699Arg)
c.*407T>C (n.*407T>C)
c.3441+16022A>G (n.3441+16022A>G)
c.*839T>C (n.*839T>C)
c.2014T>C (p.Cys672Arg)
c.276+16022A>G (n.276+16022A>G)
c.*220+6522T>C (n.*220+6522T>C)
c.1138T>C (p.Cys380Arg)
c.1165T>C (p.Cys389Arg)
c.2020T>C (p.Cys674Arg)
c.1834T>C (p.Cys612Arg)
c.1753T>C (p.Cys585Arg)
c.1459T>C (p.Cys487Arg)
c.1840T>C (p.Cys614Arg)
2g.48687702A>TCA1652927GTF2A1L,LHCGR,STON1-GTF2A1Lc.2095T>A (p.Cys699Ser)
c.*407T>A (n.*407T>A)
c.3441+16022A>T (n.3441+16022A>T)
c.*839T>A (n.*839T>A)
c.2014T>A (p.Cys672Ser)
c.276+16022A>T (n.276+16022A>T)
c.*220+6522T>A (n.*220+6522T>A)
c.1138T>A (p.Cys380Ser)
c.1165T>A (p.Cys389Ser)
c.2020T>A (p.Cys674Ser)
c.1834T>A (p.Cys612Ser)
c.1753T>A (p.Cys585Ser)
c.1459T>A (p.Cys487Ser)
c.1840T>A (p.Cys614Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687703C>ACA346742759GTF2A1L,LHCGR,STON1-GTF2A1Lc.2094G>T (p.Glu698Asp)
c.*406G>T (n.*406G>T)
c.3441+16023C>A (n.3441+16023C>A)
c.*838G>T (n.*838G>T)
c.2013G>T (p.Glu671Asp)
c.276+16023C>A (n.276+16023C>A)
c.*220+6521G>T (n.*220+6521G>T)
c.1137G>T (p.Glu379Asp)
c.1164G>T (p.Glu388Asp)
c.2019G>T (p.Glu673Asp)
c.1833G>T (p.Glu611Asp)
c.1752G>T (p.Glu584Asp)
c.1458G>T (p.Glu486Asp)
c.1839G>T (p.Glu613Asp)
2g.48687703C=CA1248600800GTF2A1L,LHCGR,STON1-GTF2A1Lc.2094G= (p.Glu698=)
c.*406G= (n.*406G=)
c.3441+16023C= (n.3441+16023C=)
c.*838G= (n.*838G=)
c.2013G= (p.Glu671=)
c.276+16023C= (n.276+16023C=)
c.*220+6521G= (n.*220+6521G=)
c.1137G= (p.Glu379=)
c.1164G= (p.Glu388=)
c.2019G= (p.Glu673=)
c.1833G= (p.Glu611=)
c.1752G= (p.Glu584=)
c.1458G= (p.Glu486=)
c.1839G= (p.Glu613=)
2g.48687703C>GCA46752380GTF2A1L,LHCGR,STON1-GTF2A1Lc.2094G>C (p.Glu698Asp)
c.*406G>C (n.*406G>C)
c.3441+16023C>G (n.3441+16023C>G)
c.*838G>C (n.*838G>C)
c.2013G>C (p.Glu671Asp)
c.276+16023C>G (n.276+16023C>G)
c.*220+6521G>C (n.*220+6521G>C)
c.1137G>C (p.Glu379Asp)
c.1164G>C (p.Glu388Asp)
c.2019G>C (p.Glu673Asp)
c.1833G>C (p.Glu611Asp)
c.1752G>C (p.Glu584Asp)
c.1458G>C (p.Glu486Asp)
c.1839G>C (p.Glu613Asp)
 dbSNP gnomAD v4
2g.48687703C>TCA426124444GTF2A1L,LHCGR,STON1-GTF2A1Lc.2094G>A (p.Glu698=)
c.*406G>A (n.*406G>A)
c.3441+16023C>T (n.3441+16023C>T)
c.*838G>A (n.*838G>A)
c.2013G>A (p.Glu671=)
c.276+16023C>T (n.276+16023C>T)
c.*220+6521G>A (n.*220+6521G>A)
c.1137G>A (p.Glu379=)
c.1164G>A (p.Glu388=)
c.2019G>A (p.Glu673=)
c.1833G>A (p.Glu611=)
c.1752G>A (p.Glu584=)
c.1458G>A (p.Glu486=)
c.1839G>A (p.Glu613=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687705_48687706delCA2658992076GTF2A1L,LHCGR,STON1-GTF2A1Lc.2093_2094del (p.Glu698ValfsTer15)
c.*405_*406del (n.*405_*406del)
c.3441+16025_3441+16026del (n.3441+16025_3441+16026del)
c.*837_*838del (n.*837_*838del)
c.2012_2013del (p.Glu671ValfsTer15)
c.276+16025_276+16026del (n.276+16025_276+16026del)
c.*220+6520_*220+6521del (n.*220+6520_*220+6521del)
c.1136_1137del (p.Glu379ValfsTer15)
c.1163_1164del (p.Glu388ValfsTer15)
c.2018_2019del (p.Glu673ValfsTer15)
c.1832_1833del (p.Glu611ValfsTer15)
c.1751_1752del (p.Glu584ValfsTer15)
c.1457_1458del (p.Glu486ValfsTer15)
c.1838_1839del (p.Glu613ValfsTer15)
 gnomAD v4
2g.48687704T>ACA346742763GTF2A1L,LHCGR,STON1-GTF2A1Lc.2093A>T (p.Glu698Val)
c.*405A>T (n.*405A>T)
c.3441+16024T>A (n.3441+16024T>A)
c.*837A>T (n.*837A>T)
c.2012A>T (p.Glu671Val)
c.276+16024T>A (n.276+16024T>A)
c.*220+6520A>T (n.*220+6520A>T)
c.1136A>T (p.Glu379Val)
c.1163A>T (p.Glu388Val)
c.2018A>T (p.Glu673Val)
c.1832A>T (p.Glu611Val)
c.1751A>T (p.Glu584Val)
c.1457A>T (p.Glu486Val)
c.1838A>T (p.Glu613Val)
2g.48687704T>CCA346742766GTF2A1L,LHCGR,STON1-GTF2A1Lc.2093A>G (p.Glu698Gly)
c.*405A>G (n.*405A>G)
c.3441+16024T>C (n.3441+16024T>C)
c.*837A>G (n.*837A>G)
c.2012A>G (p.Glu671Gly)
c.276+16024T>C (n.276+16024T>C)
c.*220+6520A>G (n.*220+6520A>G)
c.1136A>G (p.Glu379Gly)
c.1163A>G (p.Glu388Gly)
c.2018A>G (p.Glu673Gly)
c.1832A>G (p.Glu611Gly)
c.1751A>G (p.Glu584Gly)
c.1457A>G (p.Glu486Gly)
c.1838A>G (p.Glu613Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687704T>GCA346742770GTF2A1L,LHCGR,STON1-GTF2A1Lc.2093A>C (p.Glu698Ala)
c.*405A>C (n.*405A>C)
c.3441+16024T>G (n.3441+16024T>G)
c.*837A>C (n.*837A>C)
c.2012A>C (p.Glu671Ala)
c.276+16024T>G (n.276+16024T>G)
c.*220+6520A>C (n.*220+6520A>C)
c.1136A>C (p.Glu379Ala)
c.1163A>C (p.Glu388Ala)
c.2018A>C (p.Glu673Ala)
c.1832A>C (p.Glu611Ala)
c.1751A>C (p.Glu584Ala)
c.1457A>C (p.Glu486Ala)
c.1838A>C (p.Glu613Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687704T=CA1248600801GTF2A1L,LHCGR,STON1-GTF2A1Lc.2093A= (p.Glu698=)
c.*405A= (n.*405A=)
c.3441+16024T= (n.3441+16024T=)
c.*837A= (n.*837A=)
c.2012A= (p.Glu671=)
c.276+16024T= (n.276+16024T=)
c.*220+6520A= (n.*220+6520A=)
c.1136A= (p.Glu379=)
c.1163A= (p.Glu388=)
c.2018A= (p.Glu673=)
c.1832A= (p.Glu611=)
c.1751A= (p.Glu584=)
c.1457A= (p.Glu486=)
c.1838A= (p.Glu613=)
2g.48687705C>ACA346742773GTF2A1L,LHCGR,STON1-GTF2A1Lc.2092G>T (p.Glu698Ter)
c.*404G>T (n.*404G>T)
c.3441+16025C>A (n.3441+16025C>A)
c.*836G>T (n.*836G>T)
c.2011G>T (p.Glu671Ter)
c.276+16025C>A (n.276+16025C>A)
c.*220+6519G>T (n.*220+6519G>T)
c.1135G>T (p.Glu379Ter)
c.1162G>T (p.Glu388Ter)
c.2017G>T (p.Glu673Ter)
c.1831G>T (p.Glu611Ter)
c.1750G>T (p.Glu584Ter)
c.1456G>T (p.Glu486Ter)
c.1837G>T (p.Glu613Ter)
2g.48687705C=CA1248600802GTF2A1L,LHCGR,STON1-GTF2A1Lc.2092G= (p.Glu698=)
c.*404G= (n.*404G=)
c.3441+16025C= (n.3441+16025C=)
c.*836G= (n.*836G=)
c.2011G= (p.Glu671=)
c.276+16025C= (n.276+16025C=)
c.*220+6519G= (n.*220+6519G=)
c.1135G= (p.Glu379=)
c.1162G= (p.Glu388=)
c.2017G= (p.Glu673=)
c.1831G= (p.Glu611=)
c.1750G= (p.Glu584=)
c.1456G= (p.Glu486=)
c.1837G= (p.Glu613=)
2g.48687705C>GCA1652928GTF2A1L,LHCGR,STON1-GTF2A1Lc.2092G>C (p.Glu698Gln)
c.*404G>C (n.*404G>C)
c.3441+16025C>G (n.3441+16025C>G)
c.*836G>C (n.*836G>C)
c.2011G>C (p.Glu671Gln)
c.276+16025C>G (n.276+16025C>G)
c.*220+6519G>C (n.*220+6519G>C)
c.1135G>C (p.Glu379Gln)
c.1162G>C (p.Glu388Gln)
c.2017G>C (p.Glu673Gln)
c.1831G>C (p.Glu611Gln)
c.1750G>C (p.Glu584Gln)
c.1456G>C (p.Glu486Gln)
c.1837G>C (p.Glu613Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687705C>TCA346742776GTF2A1L,LHCGR,STON1-GTF2A1Lc.2092G>A (p.Glu698Lys)
c.*404G>A (n.*404G>A)
c.3441+16025C>T (n.3441+16025C>T)
c.*836G>A (n.*836G>A)
c.2011G>A (p.Glu671Lys)
c.276+16025C>T (n.276+16025C>T)
c.*220+6519G>A (n.*220+6519G>A)
c.1135G>A (p.Glu379Lys)
c.1162G>A (p.Glu388Lys)
c.2017G>A (p.Glu673Lys)
c.1831G>A (p.Glu611Lys)
c.1750G>A (p.Glu584Lys)
c.1456G>A (p.Glu486Lys)
c.1837G>A (p.Glu613Lys)
 gnomAD v4
2g.48687706T>ACA1652929GTF2A1L,LHCGR,STON1-GTF2A1Lc.2091A>T (p.Thr697=)
c.*403A>T (n.*403A>T)
c.3441+16026T>A (n.3441+16026T>A)
c.*835A>T (n.*835A>T)
c.2010A>T (p.Thr670=)
c.276+16026T>A (n.276+16026T>A)
c.*220+6518A>T (n.*220+6518A>T)
c.1134A>T (p.Thr378=)
c.1161A>T (p.Thr387=)
c.2016A>T (p.Thr672=)
c.1830A>T (p.Thr610=)
c.1749A>T (p.Thr583=)
c.1455A>T (p.Thr485=)
c.1836A>T (p.Thr612=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687706T>CCA426124445GTF2A1L,LHCGR,STON1-GTF2A1Lc.2091A>G (p.Thr697=)
c.*403A>G (n.*403A>G)
c.3441+16026T>C (n.3441+16026T>C)
c.*835A>G (n.*835A>G)
c.2010A>G (p.Thr670=)
c.276+16026T>C (n.276+16026T>C)
c.*220+6518A>G (n.*220+6518A>G)
c.1134A>G (p.Thr378=)
c.1161A>G (p.Thr387=)
c.2016A>G (p.Thr672=)
c.1830A>G (p.Thr610=)
c.1749A>G (p.Thr583=)
c.1455A>G (p.Thr485=)
c.1836A>G (p.Thr612=)
2g.48687706T>GCA1652930GTF2A1L,LHCGR,STON1-GTF2A1Lc.2091A>C (p.Thr697=)
c.*403A>C (n.*403A>C)
c.3441+16026T>G (n.3441+16026T>G)
c.*835A>C (n.*835A>C)
c.2010A>C (p.Thr670=)
c.276+16026T>G (n.276+16026T>G)
c.*220+6518A>C (n.*220+6518A>C)
c.1134A>C (p.Thr378=)
c.1161A>C (p.Thr387=)
c.2016A>C (p.Thr672=)
c.1830A>C (p.Thr610=)
c.1749A>C (p.Thr583=)
c.1455A>C (p.Thr485=)
c.1836A>C (p.Thr612=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687706T=CA1248600803GTF2A1L,LHCGR,STON1-GTF2A1Lc.2091A= (p.Thr697=)
c.*403A= (n.*403A=)
c.3441+16026T= (n.3441+16026T=)
c.*835A= (n.*835A=)
c.2010A= (p.Thr670=)
c.276+16026T= (n.276+16026T=)
c.*220+6518A= (n.*220+6518A=)
c.1134A= (p.Thr378=)
c.1161A= (p.Thr387=)
c.2016A= (p.Thr672=)
c.1830A= (p.Thr610=)
c.1749A= (p.Thr583=)
c.1455A= (p.Thr485=)
c.1836A= (p.Thr612=)
2g.48687709_48687710delCA2658992077GTF2A1L,LHCGR,STON1-GTF2A1Lc.2090_2091del (p.Thr697ArgfsTer16)
c.*402_*403del (n.*402_*403del)
c.3441+16029_3441+16030del (n.3441+16029_3441+16030del)
c.*834_*835del (n.*834_*835del)
c.2009_2010del (p.Thr670ArgfsTer16)
c.276+16029_276+16030del (n.276+16029_276+16030del)
c.*220+6517_*220+6518del (n.*220+6517_*220+6518del)
c.1133_1134del (p.Thr378ArgfsTer16)
c.1160_1161del (p.Thr387ArgfsTer16)
c.2015_2016del (p.Thr672ArgfsTer16)
c.1829_1830del (p.Thr610ArgfsTer16)
c.1748_1749del (p.Thr583ArgfsTer16)
c.1454_1455del (p.Thr485ArgfsTer16)
c.1835_1836del (p.Thr612ArgfsTer16)
 gnomAD v4
2g.48687707G>ACA346742782GTF2A1L,LHCGR,STON1-GTF2A1Lc.2090C>T (p.Thr697Ile)
c.*402C>T (n.*402C>T)
c.3441+16027G>A (n.3441+16027G>A)
c.*834C>T (n.*834C>T)
c.2009C>T (p.Thr670Ile)
c.276+16027G>A (n.276+16027G>A)
c.*220+6517C>T (n.*220+6517C>T)
c.1133C>T (p.Thr378Ile)
c.1160C>T (p.Thr387Ile)
c.2015C>T (p.Thr672Ile)
c.1829C>T (p.Thr610Ile)
c.1748C>T (p.Thr583Ile)
c.1454C>T (p.Thr485Ile)
c.1835C>T (p.Thr612Ile)
2g.48687707G>CCA346742783GTF2A1L,LHCGR,STON1-GTF2A1Lc.2090C>G (p.Thr697Arg)
c.*402C>G (n.*402C>G)
c.3441+16027G>C (n.3441+16027G>C)
c.*834C>G (n.*834C>G)
c.2009C>G (p.Thr670Arg)
c.276+16027G>C (n.276+16027G>C)
c.*220+6517C>G (n.*220+6517C>G)
c.1133C>G (p.Thr378Arg)
c.1160C>G (p.Thr387Arg)
c.2015C>G (p.Thr672Arg)
c.1829C>G (p.Thr610Arg)
c.1748C>G (p.Thr583Arg)
c.1454C>G (p.Thr485Arg)
c.1835C>G (p.Thr612Arg)
 gnomAD v4
2g.48687707G>TCA346742785GTF2A1L,LHCGR,STON1-GTF2A1Lc.2090C>A (p.Thr697Lys)
c.*402C>A (n.*402C>A)
c.3441+16027G>T (n.3441+16027G>T)
c.*834C>A (n.*834C>A)
c.2009C>A (p.Thr670Lys)
c.276+16027G>T (n.276+16027G>T)
c.*220+6517C>A (n.*220+6517C>A)
c.1133C>A (p.Thr378Lys)
c.1160C>A (p.Thr387Lys)
c.2015C>A (p.Thr672Lys)
c.1829C>A (p.Thr610Lys)
c.1748C>A (p.Thr583Lys)
c.1454C>A (p.Thr485Lys)
c.1835C>A (p.Thr612Lys)
2g.48687708T>ACA346742788GTF2A1L,LHCGR,STON1-GTF2A1Lc.2089A>T (p.Thr697Ser)
c.*401A>T (n.*401A>T)
c.3441+16028T>A (n.3441+16028T>A)
c.*833A>T (n.*833A>T)
c.2008A>T (p.Thr670Ser)
c.276+16028T>A (n.276+16028T>A)
c.*220+6516A>T (n.*220+6516A>T)
c.1132A>T (p.Thr378Ser)
c.1159A>T (p.Thr387Ser)
c.2014A>T (p.Thr672Ser)
c.1828A>T (p.Thr610Ser)
c.1747A>T (p.Thr583Ser)
c.1453A>T (p.Thr485Ser)
c.1834A>T (p.Thr612Ser)
2g.48687708T>CCA346742792GTF2A1L,LHCGR,STON1-GTF2A1Lc.2089A>G (p.Thr697Ala)
c.*401A>G (n.*401A>G)
c.3441+16028T>C (n.3441+16028T>C)
c.*833A>G (n.*833A>G)
c.2008A>G (p.Thr670Ala)
c.276+16028T>C (n.276+16028T>C)
c.*220+6516A>G (n.*220+6516A>G)
c.1132A>G (p.Thr378Ala)
c.1159A>G (p.Thr387Ala)
c.2014A>G (p.Thr672Ala)
c.1828A>G (p.Thr610Ala)
c.1747A>G (p.Thr583Ala)
c.1453A>G (p.Thr485Ala)
c.1834A>G (p.Thr612Ala)
2g.48687708T>GCA346742791GTF2A1L,LHCGR,STON1-GTF2A1Lc.2089A>C (p.Thr697Pro)
c.*401A>C (n.*401A>C)
c.3441+16028T>G (n.3441+16028T>G)
c.*833A>C (n.*833A>C)
c.2008A>C (p.Thr670Pro)
c.276+16028T>G (n.276+16028T>G)
c.*220+6516A>C (n.*220+6516A>C)
c.1132A>C (p.Thr378Pro)
c.1159A>C (p.Thr387Pro)
c.2014A>C (p.Thr672Pro)
c.1828A>C (p.Thr610Pro)
c.1747A>C (p.Thr583Pro)
c.1453A>C (p.Thr485Pro)
c.1834A>C (p.Thr612Pro)
2g.48687709G>ACA426124447GTF2A1L,LHCGR,STON1-GTF2A1Lc.2088C>T (p.Tyr696=)
c.*400C>T (n.*400C>T)
c.3441+16029G>A (n.3441+16029G>A)
c.*832C>T (n.*832C>T)
c.2007C>T (p.Tyr669=)
c.276+16029G>A (n.276+16029G>A)
c.*220+6515C>T (n.*220+6515C>T)
c.1131C>T (p.Tyr377=)
c.1158C>T (p.Tyr386=)
c.2013C>T (p.Tyr671=)
c.1827C>T (p.Tyr609=)
c.1746C>T (p.Tyr582=)
c.1452C>T (p.Tyr484=)
c.1833C>T (p.Tyr611=)
2g.48687709G>CCA346742793GTF2A1L,LHCGR,STON1-GTF2A1Lc.2088C>G (p.Tyr696Ter)
c.*400C>G (n.*400C>G)
c.3441+16029G>C (n.3441+16029G>C)
c.*832C>G (n.*832C>G)
c.2007C>G (p.Tyr669Ter)
c.276+16029G>C (n.276+16029G>C)
c.*220+6515C>G (n.*220+6515C>G)
c.1131C>G (p.Tyr377Ter)
c.1158C>G (p.Tyr386Ter)
c.2013C>G (p.Tyr671Ter)
c.1827C>G (p.Tyr609Ter)
c.1746C>G (p.Tyr582Ter)
c.1452C>G (p.Tyr484Ter)
c.1833C>G (p.Tyr611Ter)
2g.48687709G>TCA346742794GTF2A1L,LHCGR,STON1-GTF2A1Lc.2088C>A (p.Tyr696Ter)
c.*400C>A (n.*400C>A)
c.3441+16029G>T (n.3441+16029G>T)
c.*832C>A (n.*832C>A)
c.2007C>A (p.Tyr669Ter)
c.276+16029G>T (n.276+16029G>T)
c.*220+6515C>A (n.*220+6515C>A)
c.1131C>A (p.Tyr377Ter)
c.1158C>A (p.Tyr386Ter)
c.2013C>A (p.Tyr671Ter)
c.1827C>A (p.Tyr609Ter)
c.1746C>A (p.Tyr582Ter)
c.1452C>A (p.Tyr484Ter)
c.1833C>A (p.Tyr611Ter)
2g.48687710T>ACA346742795GTF2A1L,LHCGR,STON1-GTF2A1Lc.2087A>T (p.Tyr696Phe)
c.*399A>T (n.*399A>T)
c.3441+16030T>A (n.3441+16030T>A)
c.*831A>T (n.*831A>T)
c.2006A>T (p.Tyr669Phe)
c.276+16030T>A (n.276+16030T>A)
c.*220+6514A>T (n.*220+6514A>T)
c.1130A>T (p.Tyr377Phe)
c.1157A>T (p.Tyr386Phe)
c.2012A>T (p.Tyr671Phe)
c.1826A>T (p.Tyr609Phe)
c.1745A>T (p.Tyr582Phe)
c.1451A>T (p.Tyr484Phe)
c.1832A>T (p.Tyr611Phe)
2g.48687710T>CCA346742796GTF2A1L,LHCGR,STON1-GTF2A1Lc.2087A>G (p.Tyr696Cys)
c.*399A>G (n.*399A>G)
c.3441+16030T>C (n.3441+16030T>C)
c.*831A>G (n.*831A>G)
c.2006A>G (p.Tyr669Cys)
c.276+16030T>C (n.276+16030T>C)
c.*220+6514A>G (n.*220+6514A>G)
c.1130A>G (p.Tyr377Cys)
c.1157A>G (p.Tyr386Cys)
c.2012A>G (p.Tyr671Cys)
c.1826A>G (p.Tyr609Cys)
c.1745A>G (p.Tyr582Cys)
c.1451A>G (p.Tyr484Cys)
c.1832A>G (p.Tyr611Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.48687710T>GCA346742798GTF2A1L,LHCGR,STON1-GTF2A1Lc.2087A>C (p.Tyr696Ser)
c.*399A>C (n.*399A>C)
c.3441+16030T>G (n.3441+16030T>G)
c.*831A>C (n.*831A>C)
c.2006A>C (p.Tyr669Ser)
c.276+16030T>G (n.276+16030T>G)
c.*220+6514A>C (n.*220+6514A>C)
c.1130A>C (p.Tyr377Ser)
c.1157A>C (p.Tyr386Ser)
c.2012A>C (p.Tyr671Ser)
c.1826A>C (p.Tyr609Ser)
c.1745A>C (p.Tyr582Ser)
c.1451A>C (p.Tyr484Ser)
c.1832A>C (p.Tyr611Ser)
2g.48687710T=CA1248600804GTF2A1L,LHCGR,STON1-GTF2A1Lc.2087A= (p.Tyr696=)
c.*399A= (n.*399A=)
c.3441+16030T= (n.3441+16030T=)
c.*831A= (n.*831A=)
c.2006A= (p.Tyr669=)
c.276+16030T= (n.276+16030T=)
c.*220+6514A= (n.*220+6514A=)
c.1130A= (p.Tyr377=)
c.1157A= (p.Tyr386=)
c.2012A= (p.Tyr671=)
c.1826A= (p.Tyr609=)
c.1745A= (p.Tyr582=)
c.1451A= (p.Tyr484=)
c.1832A= (p.Tyr611=)
2g.48687711A=CA1248600805GTF2A1L,LHCGR,STON1-GTF2A1Lc.2086T= (p.Tyr696=)
c.*398T= (n.*398T=)
c.3441+16031A= (n.3441+16031A=)
c.*830T= (n.*830T=)
c.2005T= (p.Tyr669=)
c.276+16031A= (n.276+16031A=)
c.*220+6513T= (n.*220+6513T=)
c.1129T= (p.Tyr377=)
c.1156T= (p.Tyr386=)
c.2011T= (p.Tyr671=)
c.1825T= (p.Tyr609=)
c.1744T= (p.Tyr582=)
c.1450T= (p.Tyr484=)
c.1831T= (p.Tyr611=)
2g.48687711A>CCA346742799GTF2A1L,LHCGR,STON1-GTF2A1Lc.2086T>G (p.Tyr696Asp)
c.*398T>G (n.*398T>G)
c.3441+16031A>C (n.3441+16031A>C)
c.*830T>G (n.*830T>G)
c.2005T>G (p.Tyr669Asp)
c.276+16031A>C (n.276+16031A>C)
c.*220+6513T>G (n.*220+6513T>G)
c.1129T>G (p.Tyr377Asp)
c.1156T>G (p.Tyr386Asp)
c.2011T>G (p.Tyr671Asp)
c.1825T>G (p.Tyr609Asp)
c.1744T>G (p.Tyr582Asp)
c.1450T>G (p.Tyr484Asp)
c.1831T>G (p.Tyr611Asp)
2g.48687711A>GCA1652931GTF2A1L,LHCGR,STON1-GTF2A1Lc.2086T>C (p.Tyr696His)
c.*398T>C (n.*398T>C)
c.3441+16031A>G (n.3441+16031A>G)
c.*830T>C (n.*830T>C)
c.2005T>C (p.Tyr669His)
c.276+16031A>G (n.276+16031A>G)
c.*220+6513T>C (n.*220+6513T>C)
c.1129T>C (p.Tyr377His)
c.1156T>C (p.Tyr386His)
c.2011T>C (p.Tyr671His)
c.1825T>C (p.Tyr609His)
c.1744T>C (p.Tyr582His)
c.1450T>C (p.Tyr484His)
c.1831T>C (p.Tyr611His)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687711A>TCA346742806GTF2A1L,LHCGR,STON1-GTF2A1Lc.2086T>A (p.Tyr696Asn)
c.*398T>A (n.*398T>A)
c.3441+16031A>T (n.3441+16031A>T)
c.*830T>A (n.*830T>A)
c.2005T>A (p.Tyr669Asn)
c.276+16031A>T (n.276+16031A>T)
c.*220+6513T>A (n.*220+6513T>A)
c.1129T>A (p.Tyr377Asn)
c.1156T>A (p.Tyr386Asn)
c.2011T>A (p.Tyr671Asn)
c.1825T>A (p.Tyr609Asn)
c.1744T>A (p.Tyr582Asn)
c.1450T>A (p.Tyr484Asn)
c.1831T>A (p.Tyr611Asn)
2g.48687712G>ACA426124451GTF2A1L,LHCGR,STON1-GTF2A1Lc.2085C>T (p.Arg695=)
c.*397C>T (n.*397C>T)
c.3441+16032G>A (n.3441+16032G>A)
c.*829C>T (n.*829C>T)
c.2004C>T (p.Arg668=)
c.276+16032G>A (n.276+16032G>A)
c.*220+6512C>T (n.*220+6512C>T)
c.1128C>T (p.Arg376=)
c.1155C>T (p.Arg385=)
c.2010C>T (p.Arg670=)
c.1824C>T (p.Arg608=)
c.1743C>T (p.Arg581=)
c.1449C>T (p.Arg483=)
c.1830C>T (p.Arg610=)
 gnomAD v4
2g.48687712G>CCA426124452GTF2A1L,LHCGR,STON1-GTF2A1Lc.2085C>G (p.Arg695=)
c.*397C>G (n.*397C>G)
c.3441+16032G>C (n.3441+16032G>C)
c.*829C>G (n.*829C>G)
c.2004C>G (p.Arg668=)
c.276+16032G>C (n.276+16032G>C)
c.*220+6512C>G (n.*220+6512C>G)
c.1128C>G (p.Arg376=)
c.1155C>G (p.Arg385=)
c.2010C>G (p.Arg670=)
c.1824C>G (p.Arg608=)
c.1743C>G (p.Arg581=)
c.1449C>G (p.Arg483=)
c.1830C>G (p.Arg610=)
2g.48687712G>TCA426124453GTF2A1L,LHCGR,STON1-GTF2A1Lc.2085C>A (p.Arg695=)
c.*397C>A (n.*397C>A)
c.3441+16032G>T (n.3441+16032G>T)
c.*829C>A (n.*829C>A)
c.2004C>A (p.Arg668=)
c.276+16032G>T (n.276+16032G>T)
c.*220+6512C>A (n.*220+6512C>A)
c.1128C>A (p.Arg376=)
c.1155C>A (p.Arg385=)
c.2010C>A (p.Arg670=)
c.1824C>A (p.Arg608=)
c.1743C>A (p.Arg581=)
c.1449C>A (p.Arg483=)
c.1830C>A (p.Arg610=)
2g.48687713C>ACA346742808GTF2A1L,LHCGR,STON1-GTF2A1Lc.2084G>T (p.Arg695Leu)
c.*396G>T (n.*396G>T)
c.3441+16033C>A (n.3441+16033C>A)
c.*828G>T (n.*828G>T)
c.2003G>T (p.Arg668Leu)
c.276+16033C>A (n.276+16033C>A)
c.*220+6511G>T (n.*220+6511G>T)
c.1127G>T (p.Arg376Leu)
c.1154G>T (p.Arg385Leu)
c.2009G>T (p.Arg670Leu)
c.1823G>T (p.Arg608Leu)
c.1742G>T (p.Arg581Leu)
c.1448G>T (p.Arg483Leu)
c.1829G>T (p.Arg610Leu)
2g.48687713C=CA1248600806GTF2A1L,LHCGR,STON1-GTF2A1Lc.2084G= (p.Arg695=)
c.*396G= (n.*396G=)
c.3441+16033C= (n.3441+16033C=)
c.*828G= (n.*828G=)
c.2003G= (p.Arg668=)
c.276+16033C= (n.276+16033C=)
c.*220+6511G= (n.*220+6511G=)
c.1127G= (p.Arg376=)
c.1154G= (p.Arg385=)
c.2009G= (p.Arg670=)
c.1823G= (p.Arg608=)
c.1742G= (p.Arg581=)
c.1448G= (p.Arg483=)
c.1829G= (p.Arg610=)
2g.48687713C>GCA346742810GTF2A1L,LHCGR,STON1-GTF2A1Lc.2084G>C (p.Arg695Pro)
c.*396G>C (n.*396G>C)
c.3441+16033C>G (n.3441+16033C>G)
c.*828G>C (n.*828G>C)
c.2003G>C (p.Arg668Pro)
c.276+16033C>G (n.276+16033C>G)
c.*220+6511G>C (n.*220+6511G>C)
c.1127G>C (p.Arg376Pro)
c.1154G>C (p.Arg385Pro)
c.2009G>C (p.Arg670Pro)
c.1823G>C (p.Arg608Pro)
c.1742G>C (p.Arg581Pro)
c.1448G>C (p.Arg483Pro)
c.1829G>C (p.Arg610Pro)
2g.48687713C>TCA1652932GTF2A1L,LHCGR,STON1-GTF2A1Lc.2084G>A (p.Arg695His)
c.*396G>A (n.*396G>A)
c.3441+16033C>T (n.3441+16033C>T)
c.*828G>A (n.*828G>A)
c.2003G>A (p.Arg668His)
c.276+16033C>T (n.276+16033C>T)
c.*220+6511G>A (n.*220+6511G>A)
c.1127G>A (p.Arg376His)
c.1154G>A (p.Arg385His)
c.2009G>A (p.Arg670His)
c.1823G>A (p.Arg608His)
c.1742G>A (p.Arg581His)
c.1448G>A (p.Arg483His)
c.1829G>A (p.Arg610His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687714G>ACA1652933GTF2A1L,LHCGR,STON1-GTF2A1Lc.2083C>T (p.Arg695Cys)
c.*395C>T (n.*395C>T)
c.3441+16034G>A (n.3441+16034G>A)
c.*827C>T (n.*827C>T)
c.2002C>T (p.Arg668Cys)
c.276+16034G>A (n.276+16034G>A)
c.*220+6510C>T (n.*220+6510C>T)
c.1126C>T (p.Arg376Cys)
c.1153C>T (p.Arg385Cys)
c.2008C>T (p.Arg670Cys)
c.1822C>T (p.Arg608Cys)
c.1741C>T (p.Arg581Cys)
c.1447C>T (p.Arg483Cys)
c.1828C>T (p.Arg610Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.48687714G>CCA346742818GTF2A1L,LHCGR,STON1-GTF2A1Lc.2083C>G (p.Arg695Gly)
c.*395C>G (n.*395C>G)
c.3441+16034G>C (n.3441+16034G>C)
c.*827C>G (n.*827C>G)
c.2002C>G (p.Arg668Gly)
c.276+16034G>C (n.276+16034G>C)
c.*220+6510C>G (n.*220+6510C>G)
c.1126C>G (p.Arg376Gly)
c.1153C>G (p.Arg385Gly)
c.2008C>G (p.Arg670Gly)
c.1822C>G (p.Arg608Gly)
c.1741C>G (p.Arg581Gly)
c.1447C>G (p.Arg483Gly)
c.1828C>G (p.Arg610Gly)
 gnomAD v4
2g.48687714G=CA1248600807GTF2A1L,LHCGR,STON1-GTF2A1Lc.2083C= (p.Arg695=)
c.*395C= (n.*395C=)
c.3441+16034G= (n.3441+16034G=)
c.*827C= (n.*827C=)
c.2002C= (p.Arg668=)
c.276+16034G= (n.276+16034G=)
c.*220+6510C= (n.*220+6510C=)
c.1126C= (p.Arg376=)
c.1153C= (p.Arg385=)
c.2008C= (p.Arg670=)
c.1822C= (p.Arg608=)
c.1741C= (p.Arg581=)
c.1447C= (p.Arg483=)
c.1828C= (p.Arg610=)
2g.48687714G>TCA346742815GTF2A1L,LHCGR,STON1-GTF2A1Lc.2083C>A (p.Arg695Ser)
c.*395C>A (n.*395C>A)
c.3441+16034G>T (n.3441+16034G>T)
c.*827C>A (n.*827C>A)
c.2002C>A (p.Arg668Ser)
c.276+16034G>T (n.276+16034G>T)
c.*220+6510C>A (n.*220+6510C>A)
c.1126C>A (p.Arg376Ser)
c.1153C>A (p.Arg385Ser)
c.2008C>A (p.Arg670Ser)
c.1822C>A (p.Arg608Ser)
c.1741C>A (p.Arg581Ser)
c.1447C>A (p.Arg483Ser)
c.1828C>A (p.Arg610Ser)
 gnomAD v4
2g.48687715A>CCA426124458GTF2A1L,LHCGR,STON1-GTF2A1Lc.2082T>G (p.Thr694=)
c.*394T>G (n.*394T>G)
c.3441+16035A>C (n.3441+16035A>C)
c.*826T>G (n.*826T>G)
c.2001T>G (p.Thr667=)
c.276+16035A>C (n.276+16035A>C)
c.*220+6509T>G (n.*220+6509T>G)
c.1125T>G (p.Thr375=)
c.1152T>G (p.Thr384=)
c.2007T>G (p.Thr669=)
c.1821T>G (p.Thr607=)
c.1740T>G (p.Thr580=)
c.1446T>G (p.Thr482=)
c.1827T>G (p.Thr609=)
 COSMIC
2g.48687715A>GCA426124459GTF2A1L,LHCGR,STON1-GTF2A1Lc.2082T>C (p.Thr694=)
c.*394T>C (n.*394T>C)
c.3441+16035A>G (n.3441+16035A>G)
c.*826T>C (n.*826T>C)
c.2001T>C (p.Thr667=)
c.276+16035A>G (n.276+16035A>G)
c.*220+6509T>C (n.*220+6509T>C)
c.1125T>C (p.Thr375=)
c.1152T>C (p.Thr384=)
c.2007T>C (p.Thr669=)
c.1821T>C (p.Thr607=)
c.1740T>C (p.Thr580=)
c.1446T>C (p.Thr482=)
c.1827T>C (p.Thr609=)
2g.48687715A>TCA426124457GTF2A1L,LHCGR,STON1-GTF2A1Lc.2082T>A (p.Thr694=)
c.*394T>A (n.*394T>A)
c.3441+16035A>T (n.3441+16035A>T)
c.*826T>A (n.*826T>A)
c.2001T>A (p.Thr667=)
c.276+16035A>T (n.276+16035A>T)
c.*220+6509T>A (n.*220+6509T>A)
c.1125T>A (p.Thr375=)
c.1152T>A (p.Thr384=)
c.2007T>A (p.Thr669=)
c.1821T>A (p.Thr607=)
c.1740T>A (p.Thr580=)
c.1446T>A (p.Thr482=)
c.1827T>A (p.Thr609=)
 gnomAD v4
2g.48687716G>ACA346742825GTF2A1L,LHCGR,STON1-GTF2A1Lc.2081C>T (p.Thr694Ile)
c.*393C>T (n.*393C>T)
c.3441+16036G>A (n.3441+16036G>A)
c.*825C>T (n.*825C>T)
c.2000C>T (p.Thr667Ile)
c.276+16036G>A (n.276+16036G>A)
c.*220+6508C>T (n.*220+6508C>T)
c.1124C>T (p.Thr375Ile)
c.1151C>T (p.Thr384Ile)
c.2006C>T (p.Thr669Ile)
c.1820C>T (p.Thr607Ile)
c.1739C>T (p.Thr580Ile)
c.1445C>T (p.Thr482Ile)
c.1826C>T (p.Thr609Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.48687716G>CCA346742822GTF2A1L,LHCGR,STON1-GTF2A1Lc.2081C>G (p.Thr694Ser)
c.*393C>G (n.*393C>G)
c.3441+16036G>C (n.3441+16036G>C)
c.*825C>G (n.*825C>G)
c.2000C>G (p.Thr667Ser)
c.276+16036G>C (n.276+16036G>C)
c.*220+6508C>G (n.*220+6508C>G)
c.1124C>G (p.Thr375Ser)
c.1151C>G (p.Thr384Ser)
c.2006C>G (p.Thr669Ser)
c.1820C>G (p.Thr607Ser)
c.1739C>G (p.Thr580Ser)
c.1445C>G (p.Thr482Ser)
c.1826C>G (p.Thr609Ser)
2g.48687716G=CA1248600808GTF2A1L,LHCGR,STON1-GTF2A1Lc.2081C= (p.Thr694=)
c.*393C= (n.*393C=)
c.3441+16036G= (n.3441+16036G=)
c.*825C= (n.*825C=)
c.2000C= (p.Thr667=)
c.276+16036G= (n.276+16036G=)
c.*220+6508C= (n.*220+6508C=)
c.1124C= (p.Thr375=)
c.1151C= (p.Thr384=)
c.2006C= (p.Thr669=)
c.1820C= (p.Thr607=)
c.1739C= (p.Thr580=)
c.1445C= (p.Thr482=)
c.1826C= (p.Thr609=)
2g.48687716G>TCA346742824GTF2A1L,LHCGR,STON1-GTF2A1Lc.2081C>A (p.Thr694Asn)
c.*393C>A (n.*393C>A)
c.3441+16036G>T (n.3441+16036G>T)
c.*825C>A (n.*825C>A)
c.2000C>A (p.Thr667Asn)
c.276+16036G>T (n.276+16036G>T)
c.*220+6508C>A (n.*220+6508C>A)
c.1124C>A (p.Thr375Asn)
c.1151C>A (p.Thr384Asn)
c.2006C>A (p.Thr669Asn)
c.1820C>A (p.Thr607Asn)
c.1739C>A (p.Thr580Asn)
c.1445C>A (p.Thr482Asn)
c.1826C>A (p.Thr609Asn)
2g.48687717T>ACA346742828GTF2A1L,LHCGR,STON1-GTF2A1Lc.2080A>T (p.Thr694Ser)
c.*392A>T (n.*392A>T)
c.3441+16037T>A (n.3441+16037T>A)
c.*824A>T (n.*824A>T)
c.1999A>T (p.Thr667Ser)
c.276+16037T>A (n.276+16037T>A)
c.*220+6507A>T (n.*220+6507A>T)
c.1123A>T (p.Thr375Ser)
c.1150A>T (p.Thr384Ser)
c.2005A>T (p.Thr669Ser)
c.1819A>T (p.Thr607Ser)
c.1738A>T (p.Thr580Ser)
c.1444A>T (p.Thr482Ser)
c.1825A>T (p.Thr609Ser)
2g.48687717T>CCA346742833GTF2A1L,LHCGR,STON1-GTF2A1Lc.2080A>G (p.Thr694Ala)
c.*392A>G (n.*392A>G)
c.3441+16037T>C (n.3441+16037T>C)
c.*824A>G (n.*824A>G)
c.1999A>G (p.Thr667Ala)
c.276+16037T>C (n.276+16037T>C)
c.*220+6507A>G (n.*220+6507A>G)
c.1123A>G (p.Thr375Ala)
c.1150A>G (p.Thr384Ala)
c.2005A>G (p.Thr669Ala)
c.1819A>G (p.Thr607Ala)
c.1738A>G (p.Thr580Ala)
c.1444A>G (p.Thr482Ala)
c.1825A>G (p.Thr609Ala)
 gnomAD v4
2g.48687717T>GCA346742834GTF2A1L,LHCGR,STON1-GTF2A1Lc.2080A>C (p.Thr694Pro)
c.*392A>C (n.*392A>C)
c.3441+16037T>G (n.3441+16037T>G)
c.*824A>C (n.*824A>C)
c.1999A>C (p.Thr667Pro)
c.276+16037T>G (n.276+16037T>G)
c.*220+6507A>C (n.*220+6507A>C)
c.1123A>C (p.Thr375Pro)
c.1150A>C (p.Thr384Pro)
c.2005A>C (p.Thr669Pro)
c.1819A>C (p.Thr607Pro)
c.1738A>C (p.Thr580Pro)
c.1444A>C (p.Thr482Pro)
c.1825A>C (p.Thr609Pro)
 dbSNP
2g.48687717T=CA1248600809GTF2A1L,LHCGR,STON1-GTF2A1Lc.2080A= (p.Thr694=)
c.*392A= (n.*392A=)
c.3441+16037T= (n.3441+16037T=)
c.*824A= (n.*824A=)
c.1999A= (p.Thr667=)
c.276+16037T= (n.276+16037T=)
c.*220+6507A= (n.*220+6507A=)
c.1123A= (p.Thr375=)
c.1150A= (p.Thr384=)
c.2005A= (p.Thr669=)
c.1819A= (p.Thr607=)
c.1738A= (p.Thr580=)
c.1444A= (p.Thr482=)
c.1825A= (p.Thr609=)
2g.48687718C>ACA346742836GTF2A1L,LHCGR,STON1-GTF2A1Lc.2079G>T (p.Lys693Asn)
c.*391G>T (n.*391G>T)
c.3441+16038C>A (n.3441+16038C>A)
c.*823G>T (n.*823G>T)
c.1998G>T (p.Lys666Asn)
c.276+16038C>A (n.276+16038C>A)
c.*220+6506G>T (n.*220+6506G>T)
c.1122G>T (p.Lys374Asn)
c.1149G>T (p.Lys383Asn)
c.2004G>T (p.Lys668Asn)
c.1818G>T (p.Lys606Asn)
c.1737G>T (p.Lys579Asn)
c.1443G>T (p.Lys481Asn)
c.1824G>T (p.Lys608Asn)
2g.48687718C=CA1248600810GTF2A1L,LHCGR,STON1-GTF2A1Lc.2079G= (p.Lys693=)
c.*391G= (n.*391G=)
c.3441+16038C= (n.3441+16038C=)
c.*823G= (n.*823G=)
c.1998G= (p.Lys666=)
c.276+16038C= (n.276+16038C=)
c.*220+6506G= (n.*220+6506G=)
c.1122G= (p.Lys374=)
c.1149G= (p.Lys383=)
c.2004G= (p.Lys668=)
c.1818G= (p.Lys606=)
c.1737G= (p.Lys579=)
c.1443G= (p.Lys481=)
c.1824G= (p.Lys608=)
2g.48687718C>GCA1652934GTF2A1L,LHCGR,STON1-GTF2A1Lc.2079G>C (p.Lys693Asn)
c.*391G>C (n.*391G>C)
c.3441+16038C>G (n.3441+16038C>G)
c.*823G>C (n.*823G>C)
c.1998G>C (p.Lys666Asn)
c.276+16038C>G (n.276+16038C>G)
c.*220+6506G>C (n.*220+6506G>C)
c.1122G>C (p.Lys374Asn)
c.1149G>C (p.Lys383Asn)
c.2004G>C (p.Lys668Asn)
c.1818G>C (p.Lys606Asn)
c.1737G>C (p.Lys579Asn)
c.1443G>C (p.Lys481Asn)
c.1824G>C (p.Lys608Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687718C>TCA426124462GTF2A1L,LHCGR,STON1-GTF2A1Lc.2079G>A (p.Lys693=)
c.*391G>A (n.*391G>A)
c.3441+16038C>T (n.3441+16038C>T)
c.*823G>A (n.*823G>A)
c.1998G>A (p.Lys666=)
c.276+16038C>T (n.276+16038C>T)
c.*220+6506G>A (n.*220+6506G>A)
c.1122G>A (p.Lys374=)
c.1149G>A (p.Lys383=)
c.2004G>A (p.Lys668=)
c.1818G>A (p.Lys606=)
c.1737G>A (p.Lys579=)
c.1443G>A (p.Lys481=)
c.1824G>A (p.Lys608=)
 dbSNP
2g.48687719T>ACA346742847GTF2A1L,LHCGR,STON1-GTF2A1Lc.2078A>T (p.Lys693Met)
c.*390A>T (n.*390A>T)
c.3441+16039T>A (n.3441+16039T>A)
c.*822A>T (n.*822A>T)
c.1997A>T (p.Lys666Met)
c.276+16039T>A (n.276+16039T>A)
c.*220+6505A>T (n.*220+6505A>T)
c.1121A>T (p.Lys374Met)
c.1148A>T (p.Lys383Met)
c.2003A>T (p.Lys668Met)
c.1817A>T (p.Lys606Met)
c.1736A>T (p.Lys579Met)
c.1442A>T (p.Lys481Met)
c.1823A>T (p.Lys608Met)
2g.48687719T>CCA346742848GTF2A1L,LHCGR,STON1-GTF2A1Lc.2078A>G (p.Lys693Arg)
c.*390A>G (n.*390A>G)
c.3441+16039T>C (n.3441+16039T>C)
c.*822A>G (n.*822A>G)
c.1997A>G (p.Lys666Arg)
c.276+16039T>C (n.276+16039T>C)
c.*220+6505A>G (n.*220+6505A>G)
c.1121A>G (p.Lys374Arg)
c.1148A>G (p.Lys383Arg)
c.2003A>G (p.Lys668Arg)
c.1817A>G (p.Lys606Arg)
c.1736A>G (p.Lys579Arg)
c.1442A>G (p.Lys481Arg)
c.1823A>G (p.Lys608Arg)
 gnomAD v4
2g.48687719T>GCA346742851GTF2A1L,LHCGR,STON1-GTF2A1Lc.2078A>C (p.Lys693Thr)
c.*390A>C (n.*390A>C)
c.3441+16039T>G (n.3441+16039T>G)
c.*822A>C (n.*822A>C)
c.1997A>C (p.Lys666Thr)
c.276+16039T>G (n.276+16039T>G)
c.*220+6505A>C (n.*220+6505A>C)
c.1121A>C (p.Lys374Thr)
c.1148A>C (p.Lys383Thr)
c.2003A>C (p.Lys668Thr)
c.1817A>C (p.Lys606Thr)
c.1736A>C (p.Lys579Thr)
c.1442A>C (p.Lys481Thr)
c.1823A>C (p.Lys608Thr)
2g.48687720T>ACA346742855GTF2A1L,LHCGR,STON1-GTF2A1Lc.2077A>T (p.Lys693Ter)
c.*389A>T (n.*389A>T)
c.3441+16040T>A (n.3441+16040T>A)
c.*821A>T (n.*821A>T)
c.1996A>T (p.Lys666Ter)
c.276+16040T>A (n.276+16040T>A)
c.*220+6504A>T (n.*220+6504A>T)
c.1120A>T (p.Lys374Ter)
c.1147A>T (p.Lys383Ter)
c.2002A>T (p.Lys668Ter)
c.1816A>T (p.Lys606Ter)
c.1735A>T (p.Lys579Ter)
c.1441A>T (p.Lys481Ter)
c.1822A>T (p.Lys608Ter)
2g.48687720T>CCA346742858GTF2A1L,LHCGR,STON1-GTF2A1Lc.2077A>G (p.Lys693Glu)
c.*389A>G (n.*389A>G)
c.3441+16040T>C (n.3441+16040T>C)
c.*821A>G (n.*821A>G)
c.1996A>G (p.Lys666Glu)
c.276+16040T>C (n.276+16040T>C)
c.*220+6504A>G (n.*220+6504A>G)
c.1120A>G (p.Lys374Glu)
c.1147A>G (p.Lys383Glu)
c.2002A>G (p.Lys668Glu)
c.1816A>G (p.Lys606Glu)
c.1735A>G (p.Lys579Glu)
c.1441A>G (p.Lys481Glu)
c.1822A>G (p.Lys608Glu)
 gnomAD v4
2g.48687720T>GCA346742861GTF2A1L,LHCGR,STON1-GTF2A1Lc.2077A>C (p.Lys693Gln)
c.*389A>C (n.*389A>C)
c.3441+16040T>G (n.3441+16040T>G)
c.*821A>C (n.*821A>C)
c.1996A>C (p.Lys666Gln)
c.276+16040T>G (n.276+16040T>G)
c.*220+6504A>C (n.*220+6504A>C)
c.1120A>C (p.Lys374Gln)
c.1147A>C (p.Lys383Gln)
c.2002A>C (p.Lys668Gln)
c.1816A>C (p.Lys606Gln)
c.1735A>C (p.Lys579Gln)
c.1441A>C (p.Lys481Gln)
c.1822A>C (p.Lys608Gln)
2g.48687721G>ACA426124463GTF2A1L,LHCGR,STON1-GTF2A1Lc.2076C>T (p.Asp692=)
c.*388C>T (n.*388C>T)
c.3441+16041G>A (n.3441+16041G>A)
c.*820C>T (n.*820C>T)
c.1995C>T (p.Asp665=)
c.276+16041G>A (n.276+16041G>A)
c.*220+6503C>T (n.*220+6503C>T)
c.1119C>T (p.Asp373=)
c.1146C>T (p.Asp382=)
c.2001C>T (p.Asp667=)
c.1815C>T (p.Asp605=)
c.1734C>T (p.Asp578=)
c.1440C>T (p.Asp480=)
c.1821C>T (p.Asp607=)
2g.48687721G>CCA346742872GTF2A1L,LHCGR,STON1-GTF2A1Lc.2076C>G (p.Asp692Glu)
c.*388C>G (n.*388C>G)
c.3441+16041G>C (n.3441+16041G>C)
c.*820C>G (n.*820C>G)
c.1995C>G (p.Asp665Glu)
c.276+16041G>C (n.276+16041G>C)
c.*220+6503C>G (n.*220+6503C>G)
c.1119C>G (p.Asp373Glu)
c.1146C>G (p.Asp382Glu)
c.2001C>G (p.Asp667Glu)
c.1815C>G (p.Asp605Glu)
c.1734C>G (p.Asp578Glu)
c.1440C>G (p.Asp480Glu)
c.1821C>G (p.Asp607Glu)
2g.48687721G>TCA346742869GTF2A1L,LHCGR,STON1-GTF2A1Lc.2076C>A (p.Asp692Glu)
c.*388C>A (n.*388C>A)
c.3441+16041G>T (n.3441+16041G>T)
c.*820C>A (n.*820C>A)
c.1995C>A (p.Asp665Glu)
c.276+16041G>T (n.276+16041G>T)
c.*220+6503C>A (n.*220+6503C>A)
c.1119C>A (p.Asp373Glu)
c.1146C>A (p.Asp382Glu)
c.2001C>A (p.Asp667Glu)
c.1815C>A (p.Asp605Glu)
c.1734C>A (p.Asp578Glu)
c.1440C>A (p.Asp480Glu)
c.1821C>A (p.Asp607Glu)
2g.48687722T>ACA346742874GTF2A1L,LHCGR,STON1-GTF2A1Lc.2075A>T (p.Asp692Val)
c.*387A>T (n.*387A>T)
c.3441+16042T>A (n.3441+16042T>A)
c.*819A>T (n.*819A>T)
c.1994A>T (p.Asp665Val)
c.276+16042T>A (n.276+16042T>A)
c.*220+6502A>T (n.*220+6502A>T)
c.1118A>T (p.Asp373Val)
c.1145A>T (p.Asp382Val)
c.2000A>T (p.Asp667Val)
c.1814A>T (p.Asp605Val)
c.1733A>T (p.Asp578Val)
c.1439A>T (p.Asp480Val)
c.1820A>T (p.Asp607Val)
2g.48687722T>CCA346742876GTF2A1L,LHCGR,STON1-GTF2A1Lc.2075A>G (p.Asp692Gly)
c.*387A>G (n.*387A>G)
c.3441+16042T>C (n.3441+16042T>C)
c.*819A>G (n.*819A>G)
c.1994A>G (p.Asp665Gly)
c.276+16042T>C (n.276+16042T>C)
c.*220+6502A>G (n.*220+6502A>G)
c.1118A>G (p.Asp373Gly)
c.1145A>G (p.Asp382Gly)
c.2000A>G (p.Asp667Gly)
c.1814A>G (p.Asp605Gly)
c.1733A>G (p.Asp578Gly)
c.1439A>G (p.Asp480Gly)
c.1820A>G (p.Asp607Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.48687722T>GCA346742880GTF2A1L,LHCGR,STON1-GTF2A1Lc.2075A>C (p.Asp692Ala)
c.*387A>C (n.*387A>C)
c.3441+16042T>G (n.3441+16042T>G)
c.*819A>C (n.*819A>C)
c.1994A>C (p.Asp665Ala)
c.276+16042T>G (n.276+16042T>G)
c.*220+6502A>C (n.*220+6502A>C)
c.1118A>C (p.Asp373Ala)
c.1145A>C (p.Asp382Ala)
c.2000A>C (p.Asp667Ala)
c.1814A>C (p.Asp605Ala)
c.1733A>C (p.Asp578Ala)
c.1439A>C (p.Asp480Ala)
c.1820A>C (p.Asp607Ala)
2g.48687722T=CA1248600811GTF2A1L,LHCGR,STON1-GTF2A1Lc.2075A= (p.Asp692=)
c.*387A= (n.*387A=)
c.3441+16042T= (n.3441+16042T=)
c.*819A= (n.*819A=)
c.1994A= (p.Asp665=)
c.276+16042T= (n.276+16042T=)
c.*220+6502A= (n.*220+6502A=)
c.1118A= (p.Asp373=)
c.1145A= (p.Asp382=)
c.2000A= (p.Asp667=)
c.1814A= (p.Asp605=)
c.1733A= (p.Asp578=)
c.1439A= (p.Asp480=)
c.1820A= (p.Asp607=)
2g.48687723C>ACA346742883GTF2A1L,LHCGR,STON1-GTF2A1Lc.2074G>T (p.Asp692Tyr)
c.*386G>T (n.*386G>T)
c.3441+16043C>A (n.3441+16043C>A)
c.*818G>T (n.*818G>T)
c.1993G>T (p.Asp665Tyr)
c.276+16043C>A (n.276+16043C>A)
c.*220+6501G>T (n.*220+6501G>T)
c.1117G>T (p.Asp373Tyr)
c.1144G>T (p.Asp382Tyr)
c.1999G>T (p.Asp667Tyr)
c.1813G>T (p.Asp605Tyr)
c.1732G>T (p.Asp578Tyr)
c.1438G>T (p.Asp480Tyr)
c.1819G>T (p.Asp607Tyr)
 COSMIC
2g.48687723C=CA1248600812GTF2A1L,LHCGR,STON1-GTF2A1Lc.2074G= (p.Asp692=)
c.*386G= (n.*386G=)
c.3441+16043C= (n.3441+16043C=)
c.*818G= (n.*818G=)
c.1993G= (p.Asp665=)
c.276+16043C= (n.276+16043C=)
c.*220+6501G= (n.*220+6501G=)
c.1117G= (p.Asp373=)
c.1144G= (p.Asp382=)
c.1999G= (p.Asp667=)
c.1813G= (p.Asp605=)
c.1732G= (p.Asp578=)
c.1438G= (p.Asp480=)
c.1819G= (p.Asp607=)
2g.48687723C>GCA1652935GTF2A1L,LHCGR,STON1-GTF2A1Lc.2074G>C (p.Asp692His)
c.*386G>C (n.*386G>C)
c.3441+16043C>G (n.3441+16043C>G)
c.*818G>C (n.*818G>C)
c.1993G>C (p.Asp665His)
c.276+16043C>G (n.276+16043C>G)
c.*220+6501G>C (n.*220+6501G>C)
c.1117G>C (p.Asp373His)
c.1144G>C (p.Asp382His)
c.1999G>C (p.Asp667His)
c.1813G>C (p.Asp605His)
c.1732G>C (p.Asp578His)
c.1438G>C (p.Asp480His)
c.1819G>C (p.Asp607His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687723C>TCA346742891GTF2A1L,LHCGR,STON1-GTF2A1Lc.2074G>A (p.Asp692Asn)
c.*386G>A (n.*386G>A)
c.3441+16043C>T (n.3441+16043C>T)
c.*818G>A (n.*818G>A)
c.1993G>A (p.Asp665Asn)
c.276+16043C>T (n.276+16043C>T)
c.*220+6501G>A (n.*220+6501G>A)
c.1117G>A (p.Asp373Asn)
c.1144G>A (p.Asp382Asn)
c.1999G>A (p.Asp667Asn)
c.1813G>A (p.Asp605Asn)
c.1732G>A (p.Asp578Asn)
c.1438G>A (p.Asp480Asn)
c.1819G>A (p.Asp607Asn)
 dbSNP
2g.48687724T>ACA426124465GTF2A1L,LHCGR,STON1-GTF2A1Lc.2073A>T (p.Leu691=)
c.*385A>T (n.*385A>T)
c.3441+16044T>A (n.3441+16044T>A)
c.*817A>T (n.*817A>T)
c.1992A>T (p.Leu664=)
c.276+16044T>A (n.276+16044T>A)
c.*220+6500A>T (n.*220+6500A>T)
c.1116A>T (p.Leu372=)
c.1143A>T (p.Leu381=)
c.1998A>T (p.Leu666=)
c.1812A>T (p.Leu604=)
c.1731A>T (p.Leu577=)
c.1437A>T (p.Leu479=)
c.1818A>T (p.Leu606=)
2g.48687724T>CCA426124466GTF2A1L,LHCGR,STON1-GTF2A1Lc.2073A>G (p.Leu691=)
c.*385A>G (n.*385A>G)
c.3441+16044T>C (n.3441+16044T>C)
c.*817A>G (n.*817A>G)
c.1992A>G (p.Leu664=)
c.276+16044T>C (n.276+16044T>C)
c.*220+6500A>G (n.*220+6500A>G)
c.1116A>G (p.Leu372=)
c.1143A>G (p.Leu381=)
c.1998A>G (p.Leu666=)
c.1812A>G (p.Leu604=)
c.1731A>G (p.Leu577=)
c.1437A>G (p.Leu479=)
c.1818A>G (p.Leu606=)
2g.48687724T>GCA426124468GTF2A1L,LHCGR,STON1-GTF2A1Lc.2073A>C (p.Leu691=)
c.*385A>C (n.*385A>C)
c.3441+16044T>G (n.3441+16044T>G)
c.*817A>C (n.*817A>C)
c.1992A>C (p.Leu664=)
c.276+16044T>G (n.276+16044T>G)
c.*220+6500A>C (n.*220+6500A>C)
c.1116A>C (p.Leu372=)
c.1143A>C (p.Leu381=)
c.1998A>C (p.Leu666=)
c.1812A>C (p.Leu604=)
c.1731A>C (p.Leu577=)
c.1437A>C (p.Leu479=)
c.1818A>C (p.Leu606=)
2g.48687725A=CA1248600813GTF2A1L,LHCGR,STON1-GTF2A1Lc.2072T= (p.Leu691=)
c.*384T= (n.*384T=)
c.3441+16045A= (n.3441+16045A=)
c.*816T= (n.*816T=)
c.1991T= (p.Leu664=)
c.276+16045A= (n.276+16045A=)
c.*220+6499T= (n.*220+6499T=)
c.1115T= (p.Leu372=)
c.1142T= (p.Leu381=)
c.1997T= (p.Leu666=)
c.1811T= (p.Leu604=)
c.1730T= (p.Leu577=)
c.1436T= (p.Leu479=)
c.1817T= (p.Leu606=)
2g.48687725A>CCA346742894GTF2A1L,LHCGR,STON1-GTF2A1Lc.2072T>G (p.Leu691Arg)
c.*384T>G (n.*384T>G)
c.3441+16045A>C (n.3441+16045A>C)
c.*816T>G (n.*816T>G)
c.1991T>G (p.Leu664Arg)
c.276+16045A>C (n.276+16045A>C)
c.*220+6499T>G (n.*220+6499T>G)
c.1115T>G (p.Leu372Arg)
c.1142T>G (p.Leu381Arg)
c.1997T>G (p.Leu666Arg)
c.1811T>G (p.Leu604Arg)
c.1730T>G (p.Leu577Arg)
c.1436T>G (p.Leu479Arg)
c.1817T>G (p.Leu606Arg)
2g.48687725A>GCA346742896GTF2A1L,LHCGR,STON1-GTF2A1Lc.2072T>C (p.Leu691Pro)
c.*384T>C (n.*384T>C)
c.3441+16045A>G (n.3441+16045A>G)
c.*816T>C (n.*816T>C)
c.1991T>C (p.Leu664Pro)
c.276+16045A>G (n.276+16045A>G)
c.*220+6499T>C (n.*220+6499T>C)
c.1115T>C (p.Leu372Pro)
c.1142T>C (p.Leu381Pro)
c.1997T>C (p.Leu666Pro)
c.1811T>C (p.Leu604Pro)
c.1730T>C (p.Leu577Pro)
c.1436T>C (p.Leu479Pro)
c.1817T>C (p.Leu606Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48687725A>TCA346742897GTF2A1L,LHCGR,STON1-GTF2A1Lc.2072T>A (p.Leu691Gln)
c.*384T>A (n.*384T>A)
c.3441+16045A>T (n.3441+16045A>T)
c.*816T>A (n.*816T>A)
c.1991T>A (p.Leu664Gln)
c.276+16045A>T (n.276+16045A>T)
c.*220+6499T>A (n.*220+6499T>A)
c.1115T>A (p.Leu372Gln)
c.1142T>A (p.Leu381Gln)
c.1997T>A (p.Leu666Gln)
c.1811T>A (p.Leu604Gln)
c.1730T>A (p.Leu577Gln)
c.1436T>A (p.Leu479Gln)
c.1817T>A (p.Leu606Gln)
2g.48687726G>ACA426124469GTF2A1L,LHCGR,STON1-GTF2A1Lc.2071C>T (p.Leu691=)
c.*383C>T (n.*383C>T)
c.3441+16046G>A (n.3441+16046G>A)
c.*815C>T (n.*815C>T)
c.1990C>T (p.Leu664=)
c.276+16046G>A (n.276+16046G>A)
c.*220+6498C>T (n.*220+6498C>T)
c.1114C>T (p.Leu372=)
c.1141C>T (p.Leu381=)
c.1996C>T (p.Leu666=)
c.1810C>T (p.Leu604=)
c.1729C>T (p.Leu577=)
c.1435C>T (p.Leu479=)
c.1816C>T (p.Leu606=)
 COSMIC
2g.48687726G>CCA346742898GTF2A1L,LHCGR,STON1-GTF2A1Lc.2071C>G (p.Leu691Val)
c.*383C>G (n.*383C>G)
c.3441+16046G>C (n.3441+16046G>C)
c.*815C>G (n.*815C>G)
c.1990C>G (p.Leu664Val)
c.276+16046G>C (n.276+16046G>C)
c.*220+6498C>G (n.*220+6498C>G)
c.1114C>G (p.Leu372Val)
c.1141C>G (p.Leu381Val)
c.1996C>G (p.Leu666Val)
c.1810C>G (p.Leu604Val)
c.1729C>G (p.Leu577Val)
c.1435C>G (p.Leu479Val)
c.1816C>G (p.Leu606Val)
2g.48687726G>TCA346742899GTF2A1L,LHCGR,STON1-GTF2A1Lc.2071C>A (p.Leu691Ile)
c.*383C>A (n.*383C>A)
c.3441+16046G>T (n.3441+16046G>T)
c.*815C>A (n.*815C>A)
c.1990C>A (p.Leu664Ile)
c.276+16046G>T (n.276+16046G>T)
c.*220+6498C>A (n.*220+6498C>A)
c.1114C>A (p.Leu372Ile)
c.1141C>A (p.Leu381Ile)
c.1996C>A (p.Leu666Ile)
c.1810C>A (p.Leu604Ile)
c.1729C>A (p.Leu577Ile)
c.1435C>A (p.Leu479Ile)
c.1816C>A (p.Leu606Ile)
2g.48687727G>ACA426124470GTF2A1L,LHCGR,STON1-GTF2A1Lc.2070C>T (p.Leu690=)
c.*382C>T (n.*382C>T)
c.3441+16047G>A (n.3441+16047G>A)
c.*814C>T (n.*814C>T)
c.1989C>T (p.Leu663=)
c.276+16047G>A (n.276+16047G>A)
c.*220+6497C>T (n.*220+6497C>T)
c.1113C>T (p.Leu371=)
c.1140C>T (p.Leu380=)
c.1995C>T (p.Leu665=)
c.1809C>T (p.Leu603=)
c.1728C>T (p.Leu576=)
c.1434C>T (p.Leu478=)
c.1815C>T (p.Leu605=)
 dbSNP
2g.48687727G>CCA426124471GTF2A1L,LHCGR,STON1-GTF2A1Lc.2070C>G (p.Leu690=)
c.*382C>G (n.*382C>G)
c.3441+16047G>C (n.3441+16047G>C)
c.*814C>G (n.*814C>G)
c.1989C>G (p.Leu663=)
c.276+16047G>C (n.276+16047G>C)
c.*220+6497C>G (n.*220+6497C>G)
c.1113C>G (p.Leu371=)
c.1140C>G (p.Leu380=)
c.1995C>G (p.Leu665=)
c.1809C>G (p.Leu603=)
c.1728C>G (p.Leu576=)
c.1434C>G (p.Leu478=)
c.1815C>G (p.Leu605=)
2g.48687727G=CA1248600814GTF2A1L,LHCGR,STON1-GTF2A1Lc.2070C= (p.Leu690=)
c.*382C= (n.*382C=)
c.3441+16047G= (n.3441+16047G=)
c.*814C= (n.*814C=)
c.1989C= (p.Leu663=)
c.276+16047G= (n.276+16047G=)
c.*220+6497C= (n.*220+6497C=)
c.1113C= (p.Leu371=)
c.1140C= (p.Leu380=)
c.1995C= (p.Leu665=)
c.1809C= (p.Leu603=)
c.1728C= (p.Leu576=)
c.1434C= (p.Leu478=)
c.1815C= (p.Leu605=)
2g.48687727G>TCA426124472GTF2A1L,LHCGR,STON1-GTF2A1Lc.2070C>A (p.Leu690=)
c.*382C>A (n.*382C>A)
c.3441+16047G>T (n.3441+16047G>T)
c.*814C>A (n.*814C>A)
c.1989C>A (p.Leu663=)
c.276+16047G>T (n.276+16047G>T)
c.*220+6497C>A (n.*220+6497C>A)
c.1113C>A (p.Leu371=)
c.1140C>A (p.Leu380=)
c.1995C>A (p.Leu665=)
c.1809C>A (p.Leu603=)
c.1728C>A (p.Leu576=)
c.1434C>A (p.Leu478=)
c.1815C>A (p.Leu605=)
2g.48687728A>CCA346742900GTF2A1L,LHCGR,STON1-GTF2A1Lc.2069T>G (p.Leu690Arg)
c.*381T>G (n.*381T>G)
c.3441+16048A>C (n.3441+16048A>C)
c.*813T>G (n.*813T>G)
c.1988T>G (p.Leu663Arg)
c.276+16048A>C (n.276+16048A>C)
c.*220+6496T>G (n.*220+6496T>G)
c.1112T>G (p.Leu371Arg)
c.1139T>G (p.Leu380Arg)
c.1994T>G (p.Leu665Arg)
c.1808T>G (p.Leu603Arg)
c.1727T>G (p.Leu576Arg)
c.1433T>G (p.Leu478Arg)
c.1814T>G (p.Leu605Arg)
2g.48687728A>GCA346742902GTF2A1L,LHCGR,STON1-GTF2A1Lc.2069T>C (p.Leu690Pro)
c.*381T>C (n.*381T>C)
c.3441+16048A>G (n.3441+16048A>G)
c.*813T>C (n.*813T>C)
c.1988T>C (p.Leu663Pro)
c.276+16048A>G (n.276+16048A>G)
c.*220+6496T>C (n.*220+6496T>C)
c.1112T>C (p.Leu371Pro)
c.1139T>C (p.Leu380Pro)
c.1994T>C (p.Leu665Pro)
c.1808T>C (p.Leu603Pro)
c.1727T>C (p.Leu576Pro)
c.1433T>C (p.Leu478Pro)
c.1814T>C (p.Leu605Pro)
2g.48687728A>TCA346742905GTF2A1L,LHCGR,STON1-GTF2A1Lc.2069T>A (p.Leu690His)
c.*381T>A (n.*381T>A)
c.3441+16048A>T (n.3441+16048A>T)
c.*813T>A (n.*813T>A)
c.1988T>A (p.Leu663His)
c.276+16048A>T (n.276+16048A>T)
c.*220+6496T>A (n.*220+6496T>A)
c.1112T>A (p.Leu371His)
c.1139T>A (p.Leu380His)
c.1994T>A (p.Leu665His)
c.1808T>A (p.Leu603His)
c.1727T>A (p.Leu576His)
c.1433T>A (p.Leu478His)
c.1814T>A (p.Leu605His)
2g.48687729G>ACA346742909GTF2A1L,LHCGR,STON1-GTF2A1Lc.2068C>T (p.Leu690Phe)
c.*380C>T (n.*380C>T)
c.3441+16049G>A (n.3441+16049G>A)
c.*812C>T (n.*812C>T)
c.1987C>T (p.Leu663Phe)
c.276+16049G>A (n.276+16049G>A)
c.*220+6495C>T (n.*220+6495C>T)
c.1111C>T (p.Leu371Phe)
c.1138C>T (p.Leu380Phe)
c.1993C>T (p.Leu665Phe)
c.1807C>T (p.Leu603Phe)
c.1726C>T (p.Leu576Phe)
c.1432C>T (p.Leu478Phe)
c.1813C>T (p.Leu605Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.48687729G>CCA346742911GTF2A1L,LHCGR,STON1-GTF2A1Lc.2068C>G (p.Leu690Val)
c.*380C>G (n.*380C>G)
c.3441+16049G>C (n.3441+16049G>C)
c.*812C>G (n.*812C>G)
c.1987C>G (p.Leu663Val)
c.276+16049G>C (n.276+16049G>C)
c.*220+6495C>G (n.*220+6495C>G)
c.1111C>G (p.Leu371Val)
c.1138C>G (p.Leu380Val)
c.1993C>G (p.Leu665Val)
c.1807C>G (p.Leu603Val)
c.1726C>G (p.Leu576Val)
c.1432C>G (p.Leu478Val)
c.1813C>G (p.Leu605Val)
 gnomAD v4
2g.48687729G=CA1248600815GTF2A1L,LHCGR,STON1-GTF2A1Lc.2068C= (p.Leu690=)
c.*380C= (n.*380C=)
c.3441+16049G= (n.3441+16049G=)
c.*812C= (n.*812C=)
c.1987C= (p.Leu663=)
c.276+16049G= (n.276+16049G=)
c.*220+6495C= (n.*220+6495C=)
c.1111C= (p.Leu371=)
c.1138C= (p.Leu380=)
c.1993C= (p.Leu665=)
c.1807C= (p.Leu603=)
c.1726C= (p.Leu576=)
c.1432C= (p.Leu478=)
c.1813C= (p.Leu605=)
2g.48687729G>TCA346742908GTF2A1L,LHCGR,STON1-GTF2A1Lc.2068C>A (p.Leu690Ile)
c.*380C>A (n.*380C>A)
c.3441+16049G>T (n.3441+16049G>T)
c.*812C>A (n.*812C>A)
c.1987C>A (p.Leu663Ile)
c.276+16049G>T (n.276+16049G>T)
c.*220+6495C>A (n.*220+6495C>A)
c.1111C>A (p.Leu371Ile)
c.1138C>A (p.Leu380Ile)
c.1993C>A (p.Leu665Ile)
c.1807C>A (p.Leu603Ile)
c.1726C>A (p.Leu576Ile)
c.1432C>A (p.Leu478Ile)
c.1813C>A (p.Leu605Ile)
2g.48687730A>CCA426124474GTF2A1L,LHCGR,STON1-GTF2A1Lc.2067T>G (p.Ala689=)
c.*379T>G (n.*379T>G)
c.3441+16050A>C (n.3441+16050A>C)
c.*811T>G (n.*811T>G)
c.1986T>G (p.Ala662=)
c.276+16050A>C (n.276+16050A>C)
c.*220+6494T>G (n.*220+6494T>G)
c.1110T>G (p.Ala370=)
c.1137T>G (p.Ala379=)
c.1992T>G (p.Ala664=)
c.1806T>G (p.Ala602=)
c.1725T>G (p.Ala575=)
c.1431T>G (p.Ala477=)
c.1812T>G (p.Ala604=)
2g.48687730A>GCA426124475GTF2A1L,LHCGR,STON1-GTF2A1Lc.2067T>C (p.Ala689=)
c.*379T>C (n.*379T>C)
c.3441+16050A>G (n.3441+16050A>G)
c.*811T>C (n.*811T>C)
c.1986T>C (p.Ala662=)
c.276+16050A>G (n.276+16050A>G)
c.*220+6494T>C (n.*220+6494T>C)
c.1110T>C (p.Ala370=)
c.1137T>C (p.Ala379=)
c.1992T>C (p.Ala664=)
c.1806T>C (p.Ala602=)
c.1725T>C (p.Ala575=)
c.1431T>C (p.Ala477=)
c.1812T>C (p.Ala604=)
 gnomAD v4
2g.48687730A>TCA426124476GTF2A1L,LHCGR,STON1-GTF2A1Lc.2067T>A (p.Ala689=)
c.*379T>A (n.*379T>A)
c.3441+16050A>T (n.3441+16050A>T)
c.*811T>A (n.*811T>A)
c.1986T>A (p.Ala662=)
c.276+16050A>T (n.276+16050A>T)
c.*220+6494T>A (n.*220+6494T>A)
c.1110T>A (p.Ala370=)
c.1137T>A (p.Ala379=)
c.1992T>A (p.Ala664=)
c.1806T>A (p.Ala602=)
c.1725T>A (p.Ala575=)
c.1431T>A (p.Ala477=)
c.1812T>A (p.Ala604=)
2g.48687731G>ACA346742912GTF2A1L,LHCGR,STON1-GTF2A1Lc.2066C>T (p.Ala689Val)
c.*378C>T (n.*378C>T)
c.3441+16051G>A (n.3441+16051G>A)
c.*810C>T (n.*810C>T)
c.1985C>T (p.Ala662Val)
c.276+16051G>A (n.276+16051G>A)
c.*220+6493C>T (n.*220+6493C>T)
c.1109C>T (p.Ala370Val)
c.1136C>T (p.Ala379Val)
c.1991C>T (p.Ala664Val)
c.1805C>T (p.Ala602Val)
c.1724C>T (p.Ala575Val)
c.1430C>T (p.Ala477Val)
c.1811C>T (p.Ala604Val)
2g.48687731G>CCA1652937GTF2A1L,LHCGR,STON1-GTF2A1Lc.2066C>G (p.Ala689Gly)
c.*378C>G (n.*378C>G)
c.3441+16051G>C (n.3441+16051G>C)
c.*810C>G (n.*810C>G)
c.1985C>G (p.Ala662Gly)
c.276+16051G>C (n.276+16051G>C)
c.*220+6493C>G (n.*220+6493C>G)
c.1109C>G (p.Ala370Gly)
c.1136C>G (p.Ala379Gly)
c.1991C>G (p.Ala664Gly)
c.1805C>G (p.Ala602Gly)
c.1724C>G (p.Ala575Gly)
c.1430C>G (p.Ala477Gly)
c.1811C>G (p.Ala604Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687731G=CA1248600816GTF2A1L,LHCGR,STON1-GTF2A1Lc.2066C= (p.Ala689=)
c.*378C= (n.*378C=)
c.3441+16051G= (n.3441+16051G=)
c.*810C= (n.*810C=)
c.1985C= (p.Ala662=)
c.276+16051G= (n.276+16051G=)
c.*220+6493C= (n.*220+6493C=)
c.1109C= (p.Ala370=)
c.1136C= (p.Ala379=)
c.1991C= (p.Ala664=)
c.1805C= (p.Ala602=)
c.1724C= (p.Ala575=)
c.1430C= (p.Ala477=)
c.1811C= (p.Ala604=)
2g.48687731G>TCA1652936GTF2A1L,LHCGR,STON1-GTF2A1Lc.2066C>A (p.Ala689Asp)
c.*378C>A (n.*378C>A)
c.3441+16051G>T (n.3441+16051G>T)
c.*810C>A (n.*810C>A)
c.1985C>A (p.Ala662Asp)
c.276+16051G>T (n.276+16051G>T)
c.*220+6493C>A (n.*220+6493C>A)
c.1109C>A (p.Ala370Asp)
c.1136C>A (p.Ala379Asp)
c.1991C>A (p.Ala664Asp)
c.1805C>A (p.Ala602Asp)
c.1724C>A (p.Ala575Asp)
c.1430C>A (p.Ala477Asp)
c.1811C>A (p.Ala604Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687732C>ACA346742914GTF2A1L,LHCGR,STON1-GTF2A1Lc.2065G>T (p.Ala689Ser)
c.*377G>T (n.*377G>T)
c.3441+16052C>A (n.3441+16052C>A)
c.*809G>T (n.*809G>T)
c.1984G>T (p.Ala662Ser)
c.276+16052C>A (n.276+16052C>A)
c.*220+6492G>T (n.*220+6492G>T)
c.1108G>T (p.Ala370Ser)
c.1135G>T (p.Ala379Ser)
c.1990G>T (p.Ala664Ser)
c.1804G>T (p.Ala602Ser)
c.1723G>T (p.Ala575Ser)
c.1429G>T (p.Ala477Ser)
c.1810G>T (p.Ala604Ser)
 COSMIC
2g.48687732C=CA1248600817GTF2A1L,LHCGR,STON1-GTF2A1Lc.2065G= (p.Ala689=)
c.*377G= (n.*377G=)
c.3441+16052C= (n.3441+16052C=)
c.*809G= (n.*809G=)
c.1984G= (p.Ala662=)
c.276+16052C= (n.276+16052C=)
c.*220+6492G= (n.*220+6492G=)
c.1108G= (p.Ala370=)
c.1135G= (p.Ala379=)
c.1990G= (p.Ala664=)
c.1804G= (p.Ala602=)
c.1723G= (p.Ala575=)
c.1429G= (p.Ala477=)
c.1810G= (p.Ala604=)
2g.48687732C>GCA346742916GTF2A1L,LHCGR,STON1-GTF2A1Lc.2065G>C (p.Ala689Pro)
c.*377G>C (n.*377G>C)
c.3441+16052C>G (n.3441+16052C>G)
c.*809G>C (n.*809G>C)
c.1984G>C (p.Ala662Pro)
c.276+16052C>G (n.276+16052C>G)
c.*220+6492G>C (n.*220+6492G>C)
c.1108G>C (p.Ala370Pro)
c.1135G>C (p.Ala379Pro)
c.1990G>C (p.Ala664Pro)
c.1804G>C (p.Ala602Pro)
c.1723G>C (p.Ala575Pro)
c.1429G>C (p.Ala477Pro)
c.1810G>C (p.Ala604Pro)
2g.48687732C>TCA1652938GTF2A1L,LHCGR,STON1-GTF2A1Lc.2065G>A (p.Ala689Thr)
c.*377G>A (n.*377G>A)
c.3441+16052C>T (n.3441+16052C>T)
c.*809G>A (n.*809G>A)
c.1984G>A (p.Ala662Thr)
c.276+16052C>T (n.276+16052C>T)
c.*220+6492G>A (n.*220+6492G>A)
c.1108G>A (p.Ala370Thr)
c.1135G>A (p.Ala379Thr)
c.1990G>A (p.Ala664Thr)
c.1804G>A (p.Ala602Thr)
c.1723G>A (p.Ala575Thr)
c.1429G>A (p.Ala477Thr)
c.1810G>A (p.Ala604Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48687733T>ACA426124480GTF2A1L,LHCGR,STON1-GTF2A1Lc.2064A>T (p.Thr688=)
c.*376A>T (n.*376A>T)
c.3441+16053T>A (n.3441+16053T>A)
c.*808A>T (n.*808A>T)
c.1983A>T (p.Thr661=)
c.276+16053T>A (n.276+16053T>A)
c.*220+6491A>T (n.*220+6491A>T)
c.1107A>T (p.Thr369=)
c.1134A>T (p.Thr378=)
c.1989A>T (p.Thr663=)
c.1803A>T (p.Thr601=)
c.1722A>T (p.Thr574=)
c.1428A>T (p.Thr476=)
c.1809A>T (p.Thr603=)
2g.48687733T>CCA426124481GTF2A1L,LHCGR,STON1-GTF2A1Lc.2064A>G (p.Thr688=)
c.*376A>G (n.*376A>G)
c.3441+16053T>C (n.3441+16053T>C)
c.*808A>G (n.*808A>G)
c.1983A>G (p.Thr661=)
c.276+16053T>C (n.276+16053T>C)
c.*220+6491A>G (n.*220+6491A>G)
c.1107A>G (p.Thr369=)
c.1134A>G (p.Thr378=)
c.1989A>G (p.Thr663=)
c.1803A>G (p.Thr601=)
c.1722A>G (p.Thr574=)
c.1428A>G (p.Thr476=)
c.1809A>G (p.Thr603=)
2g.48687733T>GCA426124482GTF2A1L,LHCGR,STON1-GTF2A1Lc.2064A>C (p.Thr688=)
c.*376A>C (n.*376A>C)
c.3441+16053T>G (n.3441+16053T>G)
c.*808A>C (n.*808A>C)
c.1983A>C (p.Thr661=)
c.276+16053T>G (n.276+16053T>G)
c.*220+6491A>C (n.*220+6491A>C)
c.1107A>C (p.Thr369=)
c.1134A>C (p.Thr378=)
c.1989A>C (p.Thr663=)
c.1803A>C (p.Thr601=)
c.1722A>C (p.Thr574=)
c.1428A>C (p.Thr476=)
c.1809A>C (p.Thr603=)
2g.48687734G>ACA346742919GTF2A1L,LHCGR,STON1-GTF2A1Lc.2063C>T (p.Thr688Ile)
c.*375C>T (n.*375C>T)
c.3441+16054G>A (n.3441+16054G>A)
c.*807C>T (n.*807C>T)
c.1982C>T (p.Thr661Ile)
c.276+16054G>A (n.276+16054G>A)
c.*220+6490C>T (n.*220+6490C>T)
c.1106C>T (p.Thr369Ile)
c.1133C>T (p.Thr378Ile)
c.1988C>T (p.Thr663Ile)
c.1802C>T (p.Thr601Ile)
c.1721C>T (p.Thr574Ile)
c.1427C>T (p.Thr476Ile)
c.1808C>T (p.Thr603Ile)
2g.48687734G>CCA346742920GTF2A1L,LHCGR,STON1-GTF2A1Lc.2063C>G (p.Thr688Arg)
c.*375C>G (n.*375C>G)
c.3441+16054G>C (n.3441+16054G>C)
c.*807C>G (n.*807C>G)
c.1982C>G (p.Thr661Arg)
c.276+16054G>C (n.276+16054G>C)
c.*220+6490C>G (n.*220+6490C>G)
c.1106C>G (p.Thr369Arg)
c.1133C>G (p.Thr378Arg)
c.1988C>G (p.Thr663Arg)
c.1802C>G (p.Thr601Arg)
c.1721C>G (p.Thr574Arg)
c.1427C>G (p.Thr476Arg)
c.1808C>G (p.Thr603Arg)
2g.48687734G>TCA346742921GTF2A1L,LHCGR,STON1-GTF2A1Lc.2063C>A (p.Thr688Lys)
c.*375C>A (n.*375C>A)
c.3441+16054G>T (n.3441+16054G>T)
c.*807C>A (n.*807C>A)
c.1982C>A (p.Thr661Lys)
c.276+16054G>T (n.276+16054G>T)
c.*220+6490C>A (n.*220+6490C>A)
c.1106C>A (p.Thr369Lys)
c.1133C>A (p.Thr378Lys)
c.1988C>A (p.Thr663Lys)
c.1802C>A (p.Thr601Lys)
c.1721C>A (p.Thr574Lys)
c.1427C>A (p.Thr476Lys)
c.1808C>A (p.Thr603Lys)
2g.48687735T>ACA346742925GTF2A1L,LHCGR,STON1-GTF2A1Lc.2062A>T (p.Thr688Ser)
c.*374A>T (n.*374A>T)
c.3441+16055T>A (n.3441+16055T>A)
c.*806A>T (n.*806A>T)
c.1981A>T (p.Thr661Ser)
c.276+16055T>A (n.276+16055T>A)
c.*220+6489A>T (n.*220+6489A>T)
c.1105A>T (p.Thr369Ser)
c.1132A>T (p.Thr378Ser)
c.1987A>T (p.Thr663Ser)
c.1801A>T (p.Thr601Ser)
c.1720A>T (p.Thr574Ser)
c.1426A>T (p.Thr476Ser)
c.1807A>T (p.Thr603Ser)
2g.48687735T>CCA346742928GTF2A1L,LHCGR,STON1-GTF2A1Lc.2062A>G (p.Thr688Ala)
c.*374A>G (n.*374A>G)
c.3441+16055T>C (n.3441+16055T>C)
c.*806A>G (n.*806A>G)
c.1981A>G (p.Thr661Ala)
c.276+16055T>C (n.276+16055T>C)
c.*220+6489A>G (n.*220+6489A>G)
c.1105A>G (p.Thr369Ala)
c.1132A>G (p.Thr378Ala)
c.1987A>G (p.Thr663Ala)
c.1801A>G (p.Thr601Ala)
c.1720A>G (p.Thr574Ala)
c.1426A>G (p.Thr476Ala)
c.1807A>G (p.Thr603Ala)
2g.48687735T>GCA346742931GTF2A1L,LHCGR,STON1-GTF2A1Lc.2062A>C (p.Thr688Pro)
c.*374A>C (n.*374A>C)
c.3441+16055T>G (n.3441+16055T>G)
c.*806A>C (n.*806A>C)
c.1981A>C (p.Thr661Pro)
c.276+16055T>G (n.276+16055T>G)
c.*220+6489A>C (n.*220+6489A>C)
c.1105A>C (p.Thr369Pro)
c.1132A>C (p.Thr378Pro)
c.1987A>C (p.Thr663Pro)
c.1801A>C (p.Thr601Pro)
c.1720A>C (p.Thr574Pro)
c.1426A>C (p.Thr476Pro)
c.1807A>C (p.Thr603Pro)
 gnomAD v4
2g.48687736A>CCA426124488GTF2A1L,LHCGR,STON1-GTF2A1Lc.2061T>G (p.Gly687=)
c.*373T>G (n.*373T>G)
c.3441+16056A>C (n.3441+16056A>C)
c.*805T>G (n.*805T>G)
c.1980T>G (p.Gly660=)
c.276+16056A>C (n.276+16056A>C)
c.*220+6488T>G (n.*220+6488T>G)
c.1104T>G (p.Gly368=)
c.1131T>G (p.Gly377=)
c.1986T>G (p.Gly662=)
c.1800T>G (p.Gly600=)
c.1719T>G (p.Gly573=)
c.1425T>G (p.Gly475=)
c.1806T>G (p.Gly602=)
2g.48687736A>GCA426124487GTF2A1L,LHCGR,STON1-GTF2A1Lc.2061T>C (p.Gly687=)
c.*373T>C (n.*373T>C)
c.3441+16056A>G (n.3441+16056A>G)
c.*805T>C (n.*805T>C)
c.1980T>C (p.Gly660=)
c.276+16056A>G (n.276+16056A>G)
c.*220+6488T>C (n.*220+6488T>C)
c.1104T>C (p.Gly368=)
c.1131T>C (p.Gly377=)
c.1986T>C (p.Gly662=)
c.1800T>C (p.Gly600=)
c.1719T>C (p.Gly573=)
c.1425T>C (p.Gly475=)
c.1806T>C (p.Gly602=)
2g.48687736A>TCA426124486GTF2A1L,LHCGR,STON1-GTF2A1Lc.2061T>A (p.Gly687=)
c.*373T>A (n.*373T>A)
c.3441+16056A>T (n.3441+16056A>T)
c.*805T>A (n.*805T>A)
c.1980T>A (p.Gly660=)
c.276+16056A>T (n.276+16056A>T)
c.*220+6488T>A (n.*220+6488T>A)
c.1104T>A (p.Gly368=)
c.1131T>A (p.Gly377=)
c.1986T>A (p.Gly662=)
c.1800T>A (p.Gly600=)
c.1719T>A (p.Gly573=)
c.1425T>A (p.Gly475=)
c.1806T>A (p.Gly602=)
2g.48687737C>ACA346742933GTF2A1L,LHCGR,STON1-GTF2A1Lc.2060G>T (p.Gly687Val)
c.*372G>T (n.*372G>T)
c.3441+16057C>A (n.3441+16057C>A)
c.*804G>T (n.*804G>T)
c.1979G>T (p.Gly660Val)
c.276+16057C>A (n.276+16057C>A)
c.*220+6487G>T (n.*220+6487G>T)
c.1103G>T (p.Gly368Val)
c.1130G>T (p.Gly377Val)
c.1985G>T (p.Gly662Val)
c.1799G>T (p.Gly600Val)
c.1718G>T (p.Gly573Val)
c.1424G>T (p.Gly475Val)
c.1805G>T (p.Gly602Val)
2g.48687737C>GCA346742935GTF2A1L,LHCGR,STON1-GTF2A1Lc.2060G>C (p.Gly687Ala)
c.*372G>C (n.*372G>C)
c.3441+16057C>G (n.3441+16057C>G)
c.*804G>C (n.*804G>C)
c.1979G>C (p.Gly660Ala)
c.276+16057C>G (n.276+16057C>G)
c.*220+6487G>C (n.*220+6487G>C)
c.1103G>C (p.Gly368Ala)
c.1130G>C (p.Gly377Ala)
c.1985G>C (p.Gly662Ala)
c.1799G>C (p.Gly600Ala)
c.1718G>C (p.Gly573Ala)
c.1424G>C (p.Gly475Ala)
c.1805G>C (p.Gly602Ala)
2g.48687737C>TCA346742937GTF2A1L,LHCGR,STON1-GTF2A1Lc.2060G>A (p.Gly687Asp)
c.*372G>A (n.*372G>A)
c.3441+16057C>T (n.3441+16057C>T)
c.*804G>A (n.*804G>A)
c.1979G>A (p.Gly660Asp)
c.276+16057C>T (n.276+16057C>T)
c.*220+6487G>A (n.*220+6487G>A)
c.1103G>A (p.Gly368Asp)
c.1130G>A (p.Gly377Asp)
c.1985G>A (p.Gly662Asp)
c.1799G>A (p.Gly600Asp)
c.1718G>A (p.Gly573Asp)
c.1424G>A (p.Gly475Asp)
c.1805G>A (p.Gly602Asp)
 gnomAD v4
2g.48687738C>ACA346742946GTF2A1L,LHCGR,STON1-GTF2A1Lc.2059G>T (p.Gly687Cys)
c.*371G>T (n.*371G>T)
c.3441+16058C>A (n.3441+16058C>A)
c.*803G>T (n.*803G>T)
c.1978G>T (p.Gly660Cys)
c.276+16058C>A (n.276+16058C>A)
c.*220+6486G>T (n.*220+6486G>T)
c.1102G>T (p.Gly368Cys)
c.1129G>T (p.Gly377Cys)
c.1984G>T (p.Gly662Cys)
c.1798G>T (p.Gly600Cys)
c.1717G>T (p.Gly573Cys)
c.1423G>T (p.Gly475Cys)
c.1804G>T (p.Gly602Cys)
2g.48687738C>GCA346742943GTF2A1L,LHCGR,STON1-GTF2A1Lc.2059G>C (p.Gly687Arg)
c.*371G>C (n.*371G>C)
c.3441+16058C>G (n.3441+16058C>G)
c.*803G>C (n.*803G>C)
c.1978G>C (p.Gly660Arg)
c.276+16058C>G (n.276+16058C>G)
c.*220+6486G>C (n.*220+6486G>C)
c.1102G>C (p.Gly368Arg)
c.1129G>C (p.Gly377Arg)
c.1984G>C (p.Gly662Arg)
c.1798G>C (p.Gly600Arg)
c.1717G>C (p.Gly573Arg)
c.1423G>C (p.Gly475Arg)
c.1804G>C (p.Gly602Arg)
2g.48687738C>TCA346742945GTF2A1L,LHCGR,STON1-GTF2A1Lc.2059G>A (p.Gly687Ser)
c.*371G>A (n.*371G>A)
c.3441+16058C>T (n.3441+16058C>T)
c.*803G>A (n.*803G>A)
c.1978G>A (p.Gly660Ser)
c.276+16058C>T (n.276+16058C>T)
c.*220+6486G>A (n.*220+6486G>A)
c.1102G>A (p.Gly368Ser)
c.1129G>A (p.Gly377Ser)
c.1984G>A (p.Gly662Ser)
c.1798G>A (p.Gly600Ser)
c.1717G>A (p.Gly573Ser)
c.1423G>A (p.Gly475Ser)
c.1804G>A (p.Gly602Ser)
2g.48687739T>ACA346742948GTF2A1L,LHCGR,STON1-GTF2A1Lc.2058A>T (p.Gln686His)
c.*370A>T (n.*370A>T)
c.3441+16059T>A (n.3441+16059T>A)
c.*802A>T (n.*802A>T)
c.1977A>T (p.Gln659His)
c.276+16059T>A (n.276+16059T>A)
c.*220+6485A>T (n.*220+6485A>T)
c.1101A>T (p.Gln367His)
c.1128A>T (p.Gln376His)
c.1983A>T (p.Gln661His)
c.1797A>T (p.Gln599His)
c.1716A>T (p.Gln572His)
c.1422A>T (p.Gln474His)
c.1803A>T (p.Gln601His)
2g.48687739T>CCA426124490GTF2A1L,LHCGR,STON1-GTF2A1Lc.2058A>G (p.Gln686=)
c.*370A>G (n.*370A>G)
c.3441+16059T>C (n.3441+16059T>C)
c.*802A>G (n.*802A>G)
c.1977A>G (p.Gln659=)
c.276+16059T>C (n.276+16059T>C)
c.*220+6485A>G (n.*220+6485A>G)
c.1101A>G (p.Gln367=)
c.1128A>G (p.Gln376=)
c.1983A>G (p.Gln661=)
c.1797A>G (p.Gln599=)
c.1716A>G (p.Gln572=)
c.1422A>G (p.Gln474=)
c.1803A>G (p.Gln601=)
2g.48687739T>GCA346742953GTF2A1L,LHCGR,STON1-GTF2A1Lc.2058A>C (p.Gln686His)
c.*370A>C (n.*370A>C)
c.3441+16059T>G (n.3441+16059T>G)
c.*802A>C (n.*802A>C)
c.1977A>C (p.Gln659His)
c.276+16059T>G (n.276+16059T>G)
c.*220+6485A>C (n.*220+6485A>C)
c.1101A>C (p.Gln367His)
c.1128A>C (p.Gln376His)
c.1983A>C (p.Gln661His)
c.1797A>C (p.Gln599His)
c.1716A>C (p.Gln572His)
c.1422A>C (p.Gln474His)
c.1803A>C (p.Gln601His)
2g.48687740T>ACA346742956GTF2A1L,LHCGR,STON1-GTF2A1Lc.2057A>T (p.Gln686Leu)
c.*369A>T (n.*369A>T)
c.3441+16060T>A (n.3441+16060T>A)
c.*801A>T (n.*801A>T)
c.1976A>T (p.Gln659Leu)
c.276+16060T>A (n.276+16060T>A)
c.*220+6484A>T (n.*220+6484A>T)
c.1100A>T (p.Gln367Leu)
c.1127A>T (p.Gln376Leu)
c.1982A>T (p.Gln661Leu)
c.1796A>T (p.Gln599Leu)
c.1715A>T (p.Gln572Leu)
c.1421A>T (p.Gln474Leu)
c.1802A>T (p.Gln601Leu)
2g.48687740T>CCA346742958GTF2A1L,LHCGR,STON1-GTF2A1Lc.2057A>G (p.Gln686Arg)
c.*369A>G (n.*369A>G)
c.3441+16060T>C (n.3441+16060T>C)
c.*801A>G (n.*801A>G)
c.1976A>G (p.Gln659Arg)
c.276+16060T>C (n.276+16060T>C)
c.*220+6484A>G (n.*220+6484A>G)
c.1100A>G (p.Gln367Arg)
c.1127A>G (p.Gln376Arg)
c.1982A>G (p.Gln661Arg)
c.1796A>G (p.Gln599Arg)
c.1715A>G (p.Gln572Arg)
c.1421A>G (p.Gln474Arg)
c.1802A>G (p.Gln601Arg)
2g.48687740T>GCA346742961GTF2A1L,LHCGR,STON1-GTF2A1Lc.2057A>C (p.Gln686Pro)
c.*369A>C (n.*369A>C)
c.3441+16060T>G (n.3441+16060T>G)
c.*801A>C (n.*801A>C)
c.1976A>C (p.Gln659Pro)
c.276+16060T>G (n.276+16060T>G)
c.*220+6484A>C (n.*220+6484A>C)
c.1100A>C (p.Gln367Pro)
c.1127A>C (p.Gln376Pro)
c.1982A>C (p.Gln661Pro)
c.1796A>C (p.Gln599Pro)
c.1715A>C (p.Gln572Pro)
c.1421A>C (p.Gln474Pro)
c.1802A>C (p.Gln601Pro)
2g.48687741G>ACA346742962GTF2A1L,LHCGR,STON1-GTF2A1Lc.2056C>T (p.Gln686Ter)
c.*368C>T (n.*368C>T)
c.3441+16061G>A (n.3441+16061G>A)
c.*800C>T (n.*800C>T)
c.1975C>T (p.Gln659Ter)
c.276+16061G>A (n.276+16061G>A)
c.*220+6483C>T (n.*220+6483C>T)
c.1099C>T (p.Gln367Ter)
c.1126C>T (p.Gln376Ter)
c.1981C>T (p.Gln661Ter)
c.1795C>T (p.Gln599Ter)
c.1714C>T (p.Gln572Ter)
c.1420C>T (p.Gln474Ter)
c.1801C>T (p.Gln601Ter)
 gnomAD v4
2g.48687741G>CCA346742964GTF2A1L,LHCGR,STON1-GTF2A1Lc.2056C>G (p.Gln686Glu)
c.*368C>G (n.*368C>G)
c.3441+16061G>C (n.3441+16061G>C)
c.*800C>G (n.*800C>G)
c.1975C>G (p.Gln659Glu)
c.276+16061G>C (n.276+16061G>C)
c.*220+6483C>G (n.*220+6483C>G)
c.1099C>G (p.Gln367Glu)
c.1126C>G (p.Gln376Glu)
c.1981C>G (p.Gln661Glu)
c.1795C>G (p.Gln599Glu)
c.1714C>G (p.Gln572Glu)
c.1420C>G (p.Gln474Glu)
c.1801C>G (p.Gln601Glu)
2g.48687741G>TCA346742966GTF2A1L,LHCGR,STON1-GTF2A1Lc.2056C>A (p.Gln686Lys)
c.*368C>A (n.*368C>A)
c.3441+16061G>T (n.3441+16061G>T)
c.*800C>A (n.*800C>A)
c.1975C>A (p.Gln659Lys)
c.276+16061G>T (n.276+16061G>T)
c.*220+6483C>A (n.*220+6483C>A)
c.1099C>A (p.Gln367Lys)
c.1126C>A (p.Gln376Lys)
c.1981C>A (p.Gln661Lys)
c.1795C>A (p.Gln599Lys)
c.1714C>A (p.Gln572Lys)
c.1420C>A (p.Gln474Lys)
c.1801C>A (p.Gln601Lys)
2g.48687742A>CCA346742970GTF2A1L,LHCGR,STON1-GTF2A1Lc.2055T>G (p.Cys685Trp)
c.*367T>G (n.*367T>G)
c.3441+16062A>C (n.3441+16062A>C)
c.*799T>G (n.*799T>G)
c.1974T>G (p.Cys658Trp)
c.276+16062A>C (n.276+16062A>C)
c.*220+6482T>G (n.*220+6482T>G)
c.1098T>G (p.Cys366Trp)
c.1125T>G (p.Cys375Trp)
c.1980T>G (p.Cys660Trp)
c.1794T>G (p.Cys598Trp)
c.1713T>G (p.Cys571Trp)
c.1419T>G (p.Cys473Trp)
c.1800T>G (p.Cys600Trp)
2g.48687742A>GCA426124492GTF2A1L,LHCGR,STON1-GTF2A1Lc.2055T>C (p.Cys685=)
c.*367T>C (n.*367T>C)
c.3441+16062A>G (n.3441+16062A>G)
c.*799T>C (n.*799T>C)
c.1974T>C (p.Cys658=)
c.276+16062A>G (n.276+16062A>G)
c.*220+6482T>C (n.*220+6482T>C)
c.1098T>C (p.Cys366=)
c.1125T>C (p.Cys375=)
c.1980T>C (p.Cys660=)
c.1794T>C (p.Cys598=)
c.1713T>C (p.Cys571=)
c.1419T>C (p.Cys473=)
c.1800T>C (p.Cys600=)
 gnomAD v4
2g.48687742A>TCA346742971GTF2A1L,LHCGR,STON1-GTF2A1Lc.2055T>A (p.Cys685Ter)
c.*367T>A (n.*367T>A)
c.3441+16062A>T (n.3441+16062A>T)
c.*799T>A (n.*799T>A)
c.1974T>A (p.Cys658Ter)
c.276+16062A>T (n.276+16062A>T)
c.*220+6482T>A (n.*220+6482T>A)
c.1098T>A (p.Cys366Ter)
c.1125T>A (p.Cys375Ter)
c.1980T>A (p.Cys660Ter)
c.1794T>A (p.Cys598Ter)
c.1713T>A (p.Cys571Ter)
c.1419T>A (p.Cys473Ter)
c.1800T>A (p.Cys600Ter)
2g.48687743C>ACA346742978GTF2A1L,LHCGR,STON1-GTF2A1Lc.2054G>T (p.Cys685Phe)
c.*366G>T (n.*366G>T)
c.3441+16063C>A (n.3441+16063C>A)
c.*798G>T (n.*798G>T)
c.1973G>T (p.Cys658Phe)
c.276+16063C>A (n.276+16063C>A)
c.*220+6481G>T (n.*220+6481G>T)
c.1097G>T (p.Cys366Phe)
c.1124G>T (p.Cys375Phe)
c.1979G>T (p.Cys660Phe)
c.1793G>T (p.Cys598Phe)
c.1712G>T (p.Cys571Phe)
c.1418G>T (p.Cys473Phe)
c.1799G>T (p.Cys600Phe)
2g.48687743C>GCA346742976GTF2A1L,LHCGR,STON1-GTF2A1Lc.2054G>C (p.Cys685Ser)
c.*366G>C (n.*366G>C)
c.3441+16063C>G (n.3441+16063C>G)
c.*798G>C (n.*798G>C)
c.1973G>C (p.Cys658Ser)
c.276+16063C>G (n.276+16063C>G)
c.*220+6481G>C (n.*220+6481G>C)
c.1097G>C (p.Cys366Ser)
c.1124G>C (p.Cys375Ser)
c.1979G>C (p.Cys660Ser)
c.1793G>C (p.Cys598Ser)
c.1712G>C (p.Cys571Ser)
c.1418G>C (p.Cys473Ser)
c.1799G>C (p.Cys600Ser)
 gnomAD v4
2g.48687743C>TCA346742973GTF2A1L,LHCGR,STON1-GTF2A1Lc.2054G>A (p.Cys685Tyr)
c.*366G>A (n.*366G>A)
c.3441+16063C>T (n.3441+16063C>T)
c.*798G>A (n.*798G>A)
c.1973G>A (p.Cys658Tyr)
c.276+16063C>T (n.276+16063C>T)
c.*220+6481G>A (n.*220+6481G>A)
c.1097G>A (p.Cys366Tyr)
c.1124G>A (p.Cys375Tyr)
c.1979G>A (p.Cys660Tyr)
c.1793G>A (p.Cys598Tyr)
c.1712G>A (p.Cys571Tyr)
c.1418G>A (p.Cys473Tyr)
c.1799G>A (p.Cys600Tyr)
2g.48687744A=CA1248600818GTF2A1L,LHCGR,STON1-GTF2A1Lc.2053T= (p.Cys685=)
c.*365T= (n.*365T=)
c.3441+16064A= (n.3441+16064A=)
c.*797T= (n.*797T=)
c.1972T= (p.Cys658=)
c.276+16064A= (n.276+16064A=)
c.*220+6480T= (n.*220+6480T=)
c.1096T= (p.Cys366=)
c.1123T= (p.Cys375=)
c.1978T= (p.Cys660=)
c.1792T= (p.Cys598=)
c.1711T= (p.Cys571=)
c.1417T= (p.Cys473=)
c.1798T= (p.Cys600=)
2g.48687744A>CCA346742981GTF2A1L,LHCGR,STON1-GTF2A1Lc.2053T>G (p.Cys685Gly)
c.*365T>G (n.*365T>G)
c.3441+16064A>C (n.3441+16064A>C)
c.*797T>G (n.*797T>G)
c.1972T>G (p.Cys658Gly)
c.276+16064A>C (n.276+16064A>C)
c.*220+6480T>G (n.*220+6480T>G)
c.1096T>G (p.Cys366Gly)
c.1123T>G (p.Cys375Gly)
c.1978T>G (p.Cys660Gly)
c.1792T>G (p.Cys598Gly)
c.1711T>G (p.Cys571Gly)
c.1417T>G (p.Cys473Gly)
c.1798T>G (p.Cys600Gly)
2g.48687744A>GCA1652939GTF2A1L,LHCGR,STON1-GTF2A1Lc.2053T>C (p.Cys685Arg)
c.*365T>C (n.*365T>C)
c.3441+16064A>G (n.3441+16064A>G)
c.*797T>C (n.*797T>C)
c.1972T>C (p.Cys658Arg)
c.276+16064A>G (n.276+16064A>G)
c.*220+6480T>C (n.*220+6480T>C)
c.1096T>C (p.Cys366Arg)
c.1123T>C (p.Cys375Arg)
c.1978T>C (p.Cys660Arg)
c.1792T>C (p.Cys598Arg)
c.1711T>C (p.Cys571Arg)
c.1417T>C (p.Cys473Arg)
c.1798T>C (p.Cys600Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48687744A>TCA346742984GTF2A1L,LHCGR,STON1-GTF2A1Lc.2053T>A (p.Cys685Ser)
c.*365T>A (n.*365T>A)
c.3441+16064A>T (n.3441+16064A>T)
c.*797T>A (n.*797T>A)
c.1972T>A (p.Cys658Ser)
c.276+16064A>T (n.276+16064A>T)
c.*220+6480T>A (n.*220+6480T>A)
c.1096T>A (p.Cys366Ser)
c.1123T>A (p.Cys375Ser)
c.1978T>A (p.Cys660Ser)
c.1792T>A (p.Cys598Ser)
c.1711T>A (p.Cys571Ser)
c.1417T>A (p.Cys473Ser)
c.1798T>A (p.Cys600Ser)

Number of alleles fetched