Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688679G>ACA123926GTF2A1L,LHCGR,STON1-GTF2A1Lc.1118C>T (p.Ala373Val)
c.948-540C>T (n.948-540C>T)
c.3441+16999G>A (n.3441+16999G>A)
c.948-96C>T (n.948-96C>T)
c.1037C>T (p.Ala346Val)
c.276+16999G>A (n.276+16999G>A)
c.*220+5545C>T (n.*220+5545C>T)
c.161C>T (p.Ala54Val)
c.188C>T (p.Ala63Val)
c.1043C>T (p.Ala348Val)
c.857C>T (p.Ala286Val)
c.776C>T (p.Ala259Val)
c.482C>T (p.Ala161Val)
c.863C>T (p.Ala288Val)
 ClinVar dbSNP
2g.48688679G>CCA346749581GTF2A1L,LHCGR,STON1-GTF2A1Lc.1118C>G (p.Ala373Gly)
c.948-540C>G (n.948-540C>G)
c.3441+16999G>C (n.3441+16999G>C)
c.948-96C>G (n.948-96C>G)
c.1037C>G (p.Ala346Gly)
c.276+16999G>C (n.276+16999G>C)
c.*220+5545C>G (n.*220+5545C>G)
c.161C>G (p.Ala54Gly)
c.188C>G (p.Ala63Gly)
c.1043C>G (p.Ala348Gly)
c.857C>G (p.Ala286Gly)
c.776C>G (p.Ala259Gly)
c.482C>G (p.Ala161Gly)
c.863C>G (p.Ala288Gly)
2g.48688679G=CA1248601230GTF2A1L,LHCGR,STON1-GTF2A1Lc.1118C= (p.Ala373=)
c.948-540C= (n.948-540C=)
c.3441+16999G= (n.3441+16999G=)
c.948-96C= (n.948-96C=)
c.1037C= (p.Ala346=)
c.276+16999G= (n.276+16999G=)
c.*220+5545C= (n.*220+5545C=)
c.161C= (p.Ala54=)
c.188C= (p.Ala63=)
c.1043C= (p.Ala348=)
c.857C= (p.Ala286=)
c.776C= (p.Ala259=)
c.482C= (p.Ala161=)
c.863C= (p.Ala288=)
2g.48688679G>TCA346749584GTF2A1L,LHCGR,STON1-GTF2A1Lc.1118C>A (p.Ala373Asp)
c.948-540C>A (n.948-540C>A)
c.3441+16999G>T (n.3441+16999G>T)
c.948-96C>A (n.948-96C>A)
c.1037C>A (p.Ala346Asp)
c.276+16999G>T (n.276+16999G>T)
c.*220+5545C>A (n.*220+5545C>A)
c.161C>A (p.Ala54Asp)
c.188C>A (p.Ala63Asp)
c.1043C>A (p.Ala348Asp)
c.857C>A (p.Ala286Asp)
c.776C>A (p.Ala259Asp)
c.482C>A (p.Ala161Asp)
c.863C>A (p.Ala288Asp)
2g.48688680C>ACA346749587GTF2A1L,LHCGR,STON1-GTF2A1Lc.1117G>T (p.Ala373Ser)
c.948-541G>T (n.948-541G>T)
c.3441+17000C>A (n.3441+17000C>A)
c.948-97G>T (n.948-97G>T)
c.1036G>T (p.Ala346Ser)
c.276+17000C>A (n.276+17000C>A)
c.*220+5544G>T (n.*220+5544G>T)
c.160G>T (p.Ala54Ser)
c.187G>T (p.Ala63Ser)
c.1042G>T (p.Ala348Ser)
c.856G>T (p.Ala286Ser)
c.775G>T (p.Ala259Ser)
c.481G>T (p.Ala161Ser)
c.862G>T (p.Ala288Ser)
 gnomAD v4
2g.48688680C>GCA346749591GTF2A1L,LHCGR,STON1-GTF2A1Lc.1117G>C (p.Ala373Pro)
c.948-541G>C (n.948-541G>C)
c.3441+17000C>G (n.3441+17000C>G)
c.948-97G>C (n.948-97G>C)
c.1036G>C (p.Ala346Pro)
c.276+17000C>G (n.276+17000C>G)
c.*220+5544G>C (n.*220+5544G>C)
c.160G>C (p.Ala54Pro)
c.187G>C (p.Ala63Pro)
c.1042G>C (p.Ala348Pro)
c.856G>C (p.Ala286Pro)
c.775G>C (p.Ala259Pro)
c.481G>C (p.Ala161Pro)
c.862G>C (p.Ala288Pro)
2g.48688680C>TCA346749585GTF2A1L,LHCGR,STON1-GTF2A1Lc.1117G>A (p.Ala373Thr)
c.948-541G>A (n.948-541G>A)
c.3441+17000C>T (n.3441+17000C>T)
c.948-97G>A (n.948-97G>A)
c.1036G>A (p.Ala346Thr)
c.276+17000C>T (n.276+17000C>T)
c.*220+5544G>A (n.*220+5544G>A)
c.160G>A (p.Ala54Thr)
c.187G>A (p.Ala63Thr)
c.1042G>A (p.Ala348Thr)
c.856G>A (p.Ala286Thr)
c.775G>A (p.Ala259Thr)
c.481G>A (p.Ala161Thr)
c.862G>A (p.Ala288Thr)
 gnomAD v4
2g.48688681T>ACA426124713GTF2A1L,LHCGR,STON1-GTF2A1Lc.1116A>T (p.Leu372=)
c.948-542A>T (n.948-542A>T)
c.3441+17001T>A (n.3441+17001T>A)
c.948-98A>T (n.948-98A>T)
c.1035A>T (p.Leu345=)
c.276+17001T>A (n.276+17001T>A)
c.*220+5543A>T (n.*220+5543A>T)
c.159A>T (p.Leu53=)
c.186A>T (p.Leu62=)
c.1041A>T (p.Leu347=)
c.855A>T (p.Leu285=)
c.774A>T (p.Leu258=)
c.480A>T (p.Leu160=)
c.861A>T (p.Leu287=)
 gnomAD v4
2g.48688681T>CCA426124714GTF2A1L,LHCGR,STON1-GTF2A1Lc.1116A>G (p.Leu372=)
c.948-542A>G (n.948-542A>G)
c.3441+17001T>C (n.3441+17001T>C)
c.948-98A>G (n.948-98A>G)
c.1035A>G (p.Leu345=)
c.276+17001T>C (n.276+17001T>C)
c.*220+5543A>G (n.*220+5543A>G)
c.159A>G (p.Leu53=)
c.186A>G (p.Leu62=)
c.1041A>G (p.Leu347=)
c.855A>G (p.Leu285=)
c.774A>G (p.Leu258=)
c.480A>G (p.Leu160=)
c.861A>G (p.Leu287=)
2g.48688681T>GCA426124715GTF2A1L,LHCGR,STON1-GTF2A1Lc.1116A>C (p.Leu372=)
c.948-542A>C (n.948-542A>C)
c.3441+17001T>G (n.3441+17001T>G)
c.948-98A>C (n.948-98A>C)
c.1035A>C (p.Leu345=)
c.276+17001T>G (n.276+17001T>G)
c.*220+5543A>C (n.*220+5543A>C)
c.159A>C (p.Leu53=)
c.186A>C (p.Leu62=)
c.1041A>C (p.Leu347=)
c.855A>C (p.Leu285=)
c.774A>C (p.Leu258=)
c.480A>C (p.Leu160=)
c.861A>C (p.Leu287=)
2g.48688683_48688687delCA2658992087GTF2A1L,LHCGR,STON1-GTF2A1Lc.1112_1116del (p.Ile371SerfsTer?)
c.948-546_948-542del (n.948-546_948-542del)
c.3441+17003_3441+17007del (n.3441+17003_3441+17007del)
c.948-102_948-98del (n.948-102_948-98del)
c.1031_1035del (p.Ile344SerfsTer?)
c.276+17003_276+17007del (n.276+17003_276+17007del)
c.*220+5539_*220+5543del (n.*220+5539_*220+5543del)
c.155_159del (p.Ile52SerfsTer?)
c.182_186del (p.Ile61SerfsTer?)
c.1037_1041del (p.Ile346SerfsTer?)
c.851_855del (p.Ile284SerfsTer?)
c.770_774del (p.Ile257SerfsTer?)
c.476_480del (p.Ile159SerfsTer?)
c.857_861del (p.Ile286SerfsTer?)
 gnomAD v4
2g.48688682A>CCA346749600GTF2A1L,LHCGR,STON1-GTF2A1Lc.1115T>G (p.Leu372Arg)
c.948-543T>G (n.948-543T>G)
c.3441+17002A>C (n.3441+17002A>C)
c.948-99T>G (n.948-99T>G)
c.1034T>G (p.Leu345Arg)
c.276+17002A>C (n.276+17002A>C)
c.*220+5542T>G (n.*220+5542T>G)
c.158T>G (p.Leu53Arg)
c.185T>G (p.Leu62Arg)
c.1040T>G (p.Leu347Arg)
c.854T>G (p.Leu285Arg)
c.773T>G (p.Leu258Arg)
c.479T>G (p.Leu160Arg)
c.860T>G (p.Leu287Arg)
2g.48688682A>GCA346749595GTF2A1L,LHCGR,STON1-GTF2A1Lc.1115T>C (p.Leu372Pro)
c.948-543T>C (n.948-543T>C)
c.3441+17002A>G (n.3441+17002A>G)
c.948-99T>C (n.948-99T>C)
c.1034T>C (p.Leu345Pro)
c.276+17002A>G (n.276+17002A>G)
c.*220+5542T>C (n.*220+5542T>C)
c.158T>C (p.Leu53Pro)
c.185T>C (p.Leu62Pro)
c.1040T>C (p.Leu347Pro)
c.854T>C (p.Leu285Pro)
c.773T>C (p.Leu258Pro)
c.479T>C (p.Leu160Pro)
c.860T>C (p.Leu287Pro)
2g.48688682A>TCA346749598GTF2A1L,LHCGR,STON1-GTF2A1Lc.1115T>A (p.Leu372Gln)
c.948-543T>A (n.948-543T>A)
c.3441+17002A>T (n.3441+17002A>T)
c.948-99T>A (n.948-99T>A)
c.1034T>A (p.Leu345Gln)
c.276+17002A>T (n.276+17002A>T)
c.*220+5542T>A (n.*220+5542T>A)
c.158T>A (p.Leu53Gln)
c.185T>A (p.Leu62Gln)
c.1040T>A (p.Leu347Gln)
c.854T>A (p.Leu285Gln)
c.773T>A (p.Leu258Gln)
c.479T>A (p.Leu160Gln)
c.860T>A (p.Leu287Gln)
2g.48688683G>ACA426124716GTF2A1L,LHCGR,STON1-GTF2A1Lc.1114C>T (p.Leu372=)
c.948-544C>T (n.948-544C>T)
c.3441+17003G>A (n.3441+17003G>A)
c.948-100C>T (n.948-100C>T)
c.1033C>T (p.Leu345=)
c.276+17003G>A (n.276+17003G>A)
c.*220+5541C>T (n.*220+5541C>T)
c.157C>T (p.Leu53=)
c.184C>T (p.Leu62=)
c.1039C>T (p.Leu347=)
c.853C>T (p.Leu285=)
c.772C>T (p.Leu258=)
c.478C>T (p.Leu160=)
c.859C>T (p.Leu287=)
2g.48688683G>CCA346749603GTF2A1L,LHCGR,STON1-GTF2A1Lc.1114C>G (p.Leu372Val)
c.948-544C>G (n.948-544C>G)
c.3441+17003G>C (n.3441+17003G>C)
c.948-100C>G (n.948-100C>G)
c.1033C>G (p.Leu345Val)
c.276+17003G>C (n.276+17003G>C)
c.*220+5541C>G (n.*220+5541C>G)
c.157C>G (p.Leu53Val)
c.184C>G (p.Leu62Val)
c.1039C>G (p.Leu347Val)
c.853C>G (p.Leu285Val)
c.772C>G (p.Leu258Val)
c.478C>G (p.Leu160Val)
c.859C>G (p.Leu287Val)
2g.48688683G>TCA346749606GTF2A1L,LHCGR,STON1-GTF2A1Lc.1114C>A (p.Leu372Ile)
c.948-544C>A (n.948-544C>A)
c.3441+17003G>T (n.3441+17003G>T)
c.948-100C>A (n.948-100C>A)
c.1033C>A (p.Leu345Ile)
c.276+17003G>T (n.276+17003G>T)
c.*220+5541C>A (n.*220+5541C>A)
c.157C>A (p.Leu53Ile)
c.184C>A (p.Leu62Ile)
c.1039C>A (p.Leu347Ile)
c.853C>A (p.Leu285Ile)
c.772C>A (p.Leu258Ile)
c.478C>A (p.Leu160Ile)
c.859C>A (p.Leu287Ile)
2g.48688684A=CA1248601231GTF2A1L,LHCGR,STON1-GTF2A1Lc.1113T= (p.Ile371=)
c.948-545T= (n.948-545T=)
c.3441+17004A= (n.3441+17004A=)
c.948-101T= (n.948-101T=)
c.1032T= (p.Ile344=)
c.276+17004A= (n.276+17004A=)
c.*220+5540T= (n.*220+5540T=)
c.156T= (p.Ile52=)
c.183T= (p.Ile61=)
c.1038T= (p.Ile346=)
c.852T= (p.Ile284=)
c.771T= (p.Ile257=)
c.477T= (p.Ile159=)
c.858T= (p.Ile286=)
2g.48688684A>CCA346749609GTF2A1L,LHCGR,STON1-GTF2A1Lc.1113T>G (p.Ile371Met)
c.948-545T>G (n.948-545T>G)
c.3441+17004A>C (n.3441+17004A>C)
c.948-101T>G (n.948-101T>G)
c.1032T>G (p.Ile344Met)
c.276+17004A>C (n.276+17004A>C)
c.*220+5540T>G (n.*220+5540T>G)
c.156T>G (p.Ile52Met)
c.183T>G (p.Ile61Met)
c.1038T>G (p.Ile346Met)
c.852T>G (p.Ile284Met)
c.771T>G (p.Ile257Met)
c.477T>G (p.Ile159Met)
c.858T>G (p.Ile286Met)
2g.48688684A>GCA1653079GTF2A1L,LHCGR,STON1-GTF2A1Lc.1113T>C (p.Ile371=)
c.948-545T>C (n.948-545T>C)
c.3441+17004A>G (n.3441+17004A>G)
c.948-101T>C (n.948-101T>C)
c.1032T>C (p.Ile344=)
c.276+17004A>G (n.276+17004A>G)
c.*220+5540T>C (n.*220+5540T>C)
c.156T>C (p.Ile52=)
c.183T>C (p.Ile61=)
c.1038T>C (p.Ile346=)
c.852T>C (p.Ile284=)
c.771T>C (p.Ile257=)
c.477T>C (p.Ile159=)
c.858T>C (p.Ile286=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48688684A>TCA426124718GTF2A1L,LHCGR,STON1-GTF2A1Lc.1113T>A (p.Ile371=)
c.948-545T>A (n.948-545T>A)
c.3441+17004A>T (n.3441+17004A>T)
c.948-101T>A (n.948-101T>A)
c.1032T>A (p.Ile344=)
c.276+17004A>T (n.276+17004A>T)
c.*220+5540T>A (n.*220+5540T>A)
c.156T>A (p.Ile52=)
c.183T>A (p.Ile61=)
c.1038T>A (p.Ile346=)
c.852T>A (p.Ile284=)
c.771T>A (p.Ile257=)
c.477T>A (p.Ile159=)
c.858T>A (p.Ile286=)
2g.48688685A=CA1248601232GTF2A1L,LHCGR,STON1-GTF2A1Lc.1112T= (p.Ile371=)
c.948-546T= (n.948-546T=)
c.3441+17005A= (n.3441+17005A=)
c.948-102T= (n.948-102T=)
c.1031T= (p.Ile344=)
c.276+17005A= (n.276+17005A=)
c.*220+5539T= (n.*220+5539T=)
c.155T= (p.Ile52=)
c.182T= (p.Ile61=)
c.1037T= (p.Ile346=)
c.851T= (p.Ile284=)
c.770T= (p.Ile257=)
c.476T= (p.Ile159=)
c.857T= (p.Ile286=)
2g.48688685A>CCA346749612GTF2A1L,LHCGR,STON1-GTF2A1Lc.1112T>G (p.Ile371Ser)
c.948-546T>G (n.948-546T>G)
c.3441+17005A>C (n.3441+17005A>C)
c.948-102T>G (n.948-102T>G)
c.1031T>G (p.Ile344Ser)
c.276+17005A>C (n.276+17005A>C)
c.*220+5539T>G (n.*220+5539T>G)
c.155T>G (p.Ile52Ser)
c.182T>G (p.Ile61Ser)
c.1037T>G (p.Ile346Ser)
c.851T>G (p.Ile284Ser)
c.770T>G (p.Ile257Ser)
c.476T>G (p.Ile159Ser)
c.857T>G (p.Ile286Ser)
2g.48688685A>GCA346749614GTF2A1L,LHCGR,STON1-GTF2A1Lc.1112T>C (p.Ile371Thr)
c.948-546T>C (n.948-546T>C)
c.3441+17005A>G (n.3441+17005A>G)
c.948-102T>C (n.948-102T>C)
c.1031T>C (p.Ile344Thr)
c.276+17005A>G (n.276+17005A>G)
c.*220+5539T>C (n.*220+5539T>C)
c.155T>C (p.Ile52Thr)
c.182T>C (p.Ile61Thr)
c.1037T>C (p.Ile346Thr)
c.851T>C (p.Ile284Thr)
c.770T>C (p.Ile257Thr)
c.476T>C (p.Ile159Thr)
c.857T>C (p.Ile286Thr)
 dbSNP gnomAD v4
2g.48688685A>TCA346749615GTF2A1L,LHCGR,STON1-GTF2A1Lc.1112T>A (p.Ile371Asn)
c.948-546T>A (n.948-546T>A)
c.3441+17005A>T (n.3441+17005A>T)
c.948-102T>A (n.948-102T>A)
c.1031T>A (p.Ile344Asn)
c.276+17005A>T (n.276+17005A>T)
c.*220+5539T>A (n.*220+5539T>A)
c.155T>A (p.Ile52Asn)
c.182T>A (p.Ile61Asn)
c.1037T>A (p.Ile346Asn)
c.851T>A (p.Ile284Asn)
c.770T>A (p.Ile257Asn)
c.476T>A (p.Ile159Asn)
c.857T>A (p.Ile286Asn)
2g.48688686T>ACA346749617GTF2A1L,LHCGR,STON1-GTF2A1Lc.1111A>T (p.Ile371Phe)
c.948-547A>T (n.948-547A>T)
c.3441+17006T>A (n.3441+17006T>A)
c.948-103A>T (n.948-103A>T)
c.1030A>T (p.Ile344Phe)
c.276+17006T>A (n.276+17006T>A)
c.*220+5538A>T (n.*220+5538A>T)
c.154A>T (p.Ile52Phe)
c.181A>T (p.Ile61Phe)
c.1036A>T (p.Ile346Phe)
c.850A>T (p.Ile284Phe)
c.769A>T (p.Ile257Phe)
c.475A>T (p.Ile159Phe)
c.856A>T (p.Ile286Phe)
2g.48688686T>CCA346749620GTF2A1L,LHCGR,STON1-GTF2A1Lc.1111A>G (p.Ile371Val)
c.948-547A>G (n.948-547A>G)
c.3441+17006T>C (n.3441+17006T>C)
c.948-103A>G (n.948-103A>G)
c.1030A>G (p.Ile344Val)
c.276+17006T>C (n.276+17006T>C)
c.*220+5538A>G (n.*220+5538A>G)
c.154A>G (p.Ile52Val)
c.181A>G (p.Ile61Val)
c.1036A>G (p.Ile346Val)
c.850A>G (p.Ile284Val)
c.769A>G (p.Ile257Val)
c.475A>G (p.Ile159Val)
c.856A>G (p.Ile286Val)
2g.48688686T>GCA346749622GTF2A1L,LHCGR,STON1-GTF2A1Lc.1111A>C (p.Ile371Leu)
c.948-547A>C (n.948-547A>C)
c.3441+17006T>G (n.3441+17006T>G)
c.948-103A>C (n.948-103A>C)
c.1030A>C (p.Ile344Leu)
c.276+17006T>G (n.276+17006T>G)
c.*220+5538A>C (n.*220+5538A>C)
c.154A>C (p.Ile52Leu)
c.181A>C (p.Ile61Leu)
c.1036A>C (p.Ile346Leu)
c.850A>C (p.Ile284Leu)
c.769A>C (p.Ile257Leu)
c.475A>C (p.Ile159Leu)
c.856A>C (p.Ile286Leu)
2g.48688687A=CA1248601233GTF2A1L,LHCGR,STON1-GTF2A1Lc.1110T= (p.Asn370=)
c.948-548T= (n.948-548T=)
c.3441+17007A= (n.3441+17007A=)
c.948-104T= (n.948-104T=)
c.1029T= (p.Asn343=)
c.276+17007A= (n.276+17007A=)
c.*220+5537T= (n.*220+5537T=)
c.153T= (p.Asn51=)
c.180T= (p.Asn60=)
c.1035T= (p.Asn345=)
c.849T= (p.Asn283=)
c.768T= (p.Asn256=)
c.474T= (p.Asn158=)
c.855T= (p.Asn285=)
2g.48688687A>CCA346749625GTF2A1L,LHCGR,STON1-GTF2A1Lc.1110T>G (p.Asn370Lys)
c.948-548T>G (n.948-548T>G)
c.3441+17007A>C (n.3441+17007A>C)
c.948-104T>G (n.948-104T>G)
c.1029T>G (p.Asn343Lys)
c.276+17007A>C (n.276+17007A>C)
c.*220+5537T>G (n.*220+5537T>G)
c.153T>G (p.Asn51Lys)
c.180T>G (p.Asn60Lys)
c.1035T>G (p.Asn345Lys)
c.849T>G (p.Asn283Lys)
c.768T>G (p.Asn256Lys)
c.474T>G (p.Asn158Lys)
c.855T>G (p.Asn285Lys)
2g.48688687A>GCA1653080GTF2A1L,LHCGR,STON1-GTF2A1Lc.1110T>C (p.Asn370=)
c.948-548T>C (n.948-548T>C)
c.3441+17007A>G (n.3441+17007A>G)
c.948-104T>C (n.948-104T>C)
c.1029T>C (p.Asn343=)
c.276+17007A>G (n.276+17007A>G)
c.*220+5537T>C (n.*220+5537T>C)
c.153T>C (p.Asn51=)
c.180T>C (p.Asn60=)
c.1035T>C (p.Asn345=)
c.849T>C (p.Asn283=)
c.768T>C (p.Asn256=)
c.474T>C (p.Asn158=)
c.855T>C (p.Asn285=)
 dbSNP ExAC gnomAD v2
2g.48688687A>TCA346749624GTF2A1L,LHCGR,STON1-GTF2A1Lc.1110T>A (p.Asn370Lys)
c.948-548T>A (n.948-548T>A)
c.3441+17007A>T (n.3441+17007A>T)
c.948-104T>A (n.948-104T>A)
c.1029T>A (p.Asn343Lys)
c.276+17007A>T (n.276+17007A>T)
c.*220+5537T>A (n.*220+5537T>A)
c.153T>A (p.Asn51Lys)
c.180T>A (p.Asn60Lys)
c.1035T>A (p.Asn345Lys)
c.849T>A (p.Asn283Lys)
c.768T>A (p.Asn256Lys)
c.474T>A (p.Asn158Lys)
c.855T>A (p.Asn285Lys)
2g.48688688T>ACA346749626GTF2A1L,LHCGR,STON1-GTF2A1Lc.1109A>T (p.Asn370Ile)
c.948-549A>T (n.948-549A>T)
c.3441+17008T>A (n.3441+17008T>A)
c.948-105A>T (n.948-105A>T)
c.1028A>T (p.Asn343Ile)
c.276+17008T>A (n.276+17008T>A)
c.*220+5536A>T (n.*220+5536A>T)
c.152A>T (p.Asn51Ile)
c.179A>T (p.Asn60Ile)
c.1034A>T (p.Asn345Ile)
c.848A>T (p.Asn283Ile)
c.767A>T (p.Asn256Ile)
c.473A>T (p.Asn158Ile)
c.854A>T (p.Asn285Ile)
2g.48688688T>CCA346749627GTF2A1L,LHCGR,STON1-GTF2A1Lc.1109A>G (p.Asn370Ser)
c.948-549A>G (n.948-549A>G)
c.3441+17008T>C (n.3441+17008T>C)
c.948-105A>G (n.948-105A>G)
c.1028A>G (p.Asn343Ser)
c.276+17008T>C (n.276+17008T>C)
c.*220+5536A>G (n.*220+5536A>G)
c.152A>G (p.Asn51Ser)
c.179A>G (p.Asn60Ser)
c.1034A>G (p.Asn345Ser)
c.848A>G (p.Asn283Ser)
c.767A>G (p.Asn256Ser)
c.473A>G (p.Asn158Ser)
c.854A>G (p.Asn285Ser)
2g.48688688T>GCA346749629GTF2A1L,LHCGR,STON1-GTF2A1Lc.1109A>C (p.Asn370Thr)
c.948-549A>C (n.948-549A>C)
c.3441+17008T>G (n.3441+17008T>G)
c.948-105A>C (n.948-105A>C)
c.1028A>C (p.Asn343Thr)
c.276+17008T>G (n.276+17008T>G)
c.*220+5536A>C (n.*220+5536A>C)
c.152A>C (p.Asn51Thr)
c.179A>C (p.Asn60Thr)
c.1034A>C (p.Asn345Thr)
c.848A>C (p.Asn283Thr)
c.767A>C (p.Asn256Thr)
c.473A>C (p.Asn158Thr)
c.854A>C (p.Asn285Thr)
2g.48688689T>ACA346749631GTF2A1L,LHCGR,STON1-GTF2A1Lc.1108A>T (p.Asn370Tyr)
c.948-550A>T (n.948-550A>T)
c.3441+17009T>A (n.3441+17009T>A)
c.948-106A>T (n.948-106A>T)
c.1027A>T (p.Asn343Tyr)
c.276+17009T>A (n.276+17009T>A)
c.*220+5535A>T (n.*220+5535A>T)
c.151A>T (p.Asn51Tyr)
c.178A>T (p.Asn60Tyr)
c.1033A>T (p.Asn345Tyr)
c.847A>T (p.Asn283Tyr)
c.766A>T (p.Asn256Tyr)
c.472A>T (p.Asn158Tyr)
c.853A>T (p.Asn285Tyr)
2g.48688689T>CCA346749632GTF2A1L,LHCGR,STON1-GTF2A1Lc.1108A>G (p.Asn370Asp)
c.948-550A>G (n.948-550A>G)
c.3441+17009T>C (n.3441+17009T>C)
c.948-106A>G (n.948-106A>G)
c.1027A>G (p.Asn343Asp)
c.276+17009T>C (n.276+17009T>C)
c.*220+5535A>G (n.*220+5535A>G)
c.151A>G (p.Asn51Asp)
c.178A>G (p.Asn60Asp)
c.1033A>G (p.Asn345Asp)
c.847A>G (p.Asn283Asp)
c.766A>G (p.Asn256Asp)
c.472A>G (p.Asn158Asp)
c.853A>G (p.Asn285Asp)
2g.48688689T>GCA346749633GTF2A1L,LHCGR,STON1-GTF2A1Lc.1108A>C (p.Asn370His)
c.948-550A>C (n.948-550A>C)
c.3441+17009T>G (n.3441+17009T>G)
c.948-106A>C (n.948-106A>C)
c.1027A>C (p.Asn343His)
c.276+17009T>G (n.276+17009T>G)
c.*220+5535A>C (n.*220+5535A>C)
c.151A>C (p.Asn51His)
c.178A>C (p.Asn60His)
c.1033A>C (p.Asn345His)
c.847A>C (p.Asn283His)
c.766A>C (p.Asn256His)
c.472A>C (p.Asn158His)
c.853A>C (p.Asn285His)
2g.48688690A=CA1248601234GTF2A1L,LHCGR,STON1-GTF2A1Lc.1107T= (p.Ile369=)
c.948-551T= (n.948-551T=)
c.3441+17010A= (n.3441+17010A=)
c.948-107T= (n.948-107T=)
c.1026T= (p.Ile342=)
c.276+17010A= (n.276+17010A=)
c.*220+5534T= (n.*220+5534T=)
c.150T= (p.Ile50=)
c.177T= (p.Ile59=)
c.1032T= (p.Ile344=)
c.846T= (p.Ile282=)
c.765T= (p.Ile255=)
c.471T= (p.Ile157=)
c.852T= (p.Ile284=)
2g.48688690A>CCA46753265GTF2A1L,LHCGR,STON1-GTF2A1Lc.1107T>G (p.Ile369Met)
c.948-551T>G (n.948-551T>G)
c.3441+17010A>C (n.3441+17010A>C)
c.948-107T>G (n.948-107T>G)
c.1026T>G (p.Ile342Met)
c.276+17010A>C (n.276+17010A>C)
c.*220+5534T>G (n.*220+5534T>G)
c.150T>G (p.Ile50Met)
c.177T>G (p.Ile59Met)
c.1032T>G (p.Ile344Met)
c.846T>G (p.Ile282Met)
c.765T>G (p.Ile255Met)
c.471T>G (p.Ile157Met)
c.852T>G (p.Ile284Met)
 dbSNP
2g.48688690A>GCA426124722GTF2A1L,LHCGR,STON1-GTF2A1Lc.1107T>C (p.Ile369=)
c.948-551T>C (n.948-551T>C)
c.3441+17010A>G (n.3441+17010A>G)
c.948-107T>C (n.948-107T>C)
c.1026T>C (p.Ile342=)
c.276+17010A>G (n.276+17010A>G)
c.*220+5534T>C (n.*220+5534T>C)
c.150T>C (p.Ile50=)
c.177T>C (p.Ile59=)
c.1032T>C (p.Ile344=)
c.846T>C (p.Ile282=)
c.765T>C (p.Ile255=)
c.471T>C (p.Ile157=)
c.852T>C (p.Ile284=)
2g.48688690A>TCA426124721GTF2A1L,LHCGR,STON1-GTF2A1Lc.1107T>A (p.Ile369=)
c.948-551T>A (n.948-551T>A)
c.3441+17010A>T (n.3441+17010A>T)
c.948-107T>A (n.948-107T>A)
c.1026T>A (p.Ile342=)
c.276+17010A>T (n.276+17010A>T)
c.*220+5534T>A (n.*220+5534T>A)
c.150T>A (p.Ile50=)
c.177T>A (p.Ile59=)
c.1032T>A (p.Ile344=)
c.846T>A (p.Ile282=)
c.765T>A (p.Ile255=)
c.471T>A (p.Ile157=)
c.852T>A (p.Ile284=)
 gnomAD v4
2g.48688691A>CCA346749635GTF2A1L,LHCGR,STON1-GTF2A1Lc.1106T>G (p.Ile369Ser)
c.948-552T>G (n.948-552T>G)
c.3441+17011A>C (n.3441+17011A>C)
c.948-108T>G (n.948-108T>G)
c.1025T>G (p.Ile342Ser)
c.276+17011A>C (n.276+17011A>C)
c.*220+5533T>G (n.*220+5533T>G)
c.149T>G (p.Ile50Ser)
c.176T>G (p.Ile59Ser)
c.1031T>G (p.Ile344Ser)
c.845T>G (p.Ile282Ser)
c.764T>G (p.Ile255Ser)
c.470T>G (p.Ile157Ser)
c.851T>G (p.Ile284Ser)
2g.48688691A>GCA346749638GTF2A1L,LHCGR,STON1-GTF2A1Lc.1106T>C (p.Ile369Thr)
c.948-552T>C (n.948-552T>C)
c.3441+17011A>G (n.3441+17011A>G)
c.948-108T>C (n.948-108T>C)
c.1025T>C (p.Ile342Thr)
c.276+17011A>G (n.276+17011A>G)
c.*220+5533T>C (n.*220+5533T>C)
c.149T>C (p.Ile50Thr)
c.176T>C (p.Ile59Thr)
c.1031T>C (p.Ile344Thr)
c.845T>C (p.Ile282Thr)
c.764T>C (p.Ile255Thr)
c.470T>C (p.Ile157Thr)
c.851T>C (p.Ile284Thr)
2g.48688691A>TCA346749641GTF2A1L,LHCGR,STON1-GTF2A1Lc.1106T>A (p.Ile369Asn)
c.948-552T>A (n.948-552T>A)
c.3441+17011A>T (n.3441+17011A>T)
c.948-108T>A (n.948-108T>A)
c.1025T>A (p.Ile342Asn)
c.276+17011A>T (n.276+17011A>T)
c.*220+5533T>A (n.*220+5533T>A)
c.149T>A (p.Ile50Asn)
c.176T>A (p.Ile59Asn)
c.1031T>A (p.Ile344Asn)
c.845T>A (p.Ile282Asn)
c.764T>A (p.Ile255Asn)
c.470T>A (p.Ile157Asn)
c.851T>A (p.Ile284Asn)
2g.48688692T>ACA346749642GTF2A1L,LHCGR,STON1-GTF2A1Lc.1105A>T (p.Ile369Phe)
c.948-553A>T (n.948-553A>T)
c.3441+17012T>A (n.3441+17012T>A)
c.948-109A>T (n.948-109A>T)
c.1024A>T (p.Ile342Phe)
c.276+17012T>A (n.276+17012T>A)
c.*220+5532A>T (n.*220+5532A>T)
c.148A>T (p.Ile50Phe)
c.175A>T (p.Ile59Phe)
c.1030A>T (p.Ile344Phe)
c.844A>T (p.Ile282Phe)
c.763A>T (p.Ile255Phe)
c.469A>T (p.Ile157Phe)
c.850A>T (p.Ile284Phe)
2g.48688692T>CCA346749643GTF2A1L,LHCGR,STON1-GTF2A1Lc.1105A>G (p.Ile369Val)
c.948-553A>G (n.948-553A>G)
c.3441+17012T>C (n.3441+17012T>C)
c.948-109A>G (n.948-109A>G)
c.1024A>G (p.Ile342Val)
c.276+17012T>C (n.276+17012T>C)
c.*220+5532A>G (n.*220+5532A>G)
c.148A>G (p.Ile50Val)
c.175A>G (p.Ile59Val)
c.1030A>G (p.Ile344Val)
c.844A>G (p.Ile282Val)
c.763A>G (p.Ile255Val)
c.469A>G (p.Ile157Val)
c.850A>G (p.Ile284Val)
2g.48688692T>GCA346749645GTF2A1L,LHCGR,STON1-GTF2A1Lc.1105A>C (p.Ile369Leu)
c.948-553A>C (n.948-553A>C)
c.3441+17012T>G (n.3441+17012T>G)
c.948-109A>C (n.948-109A>C)
c.1024A>C (p.Ile342Leu)
c.276+17012T>G (n.276+17012T>G)
c.*220+5532A>C (n.*220+5532A>C)
c.148A>C (p.Ile50Leu)
c.175A>C (p.Ile59Leu)
c.1030A>C (p.Ile344Leu)
c.844A>C (p.Ile282Leu)
c.763A>C (p.Ile255Leu)
c.469A>C (p.Ile157Leu)
c.850A>C (p.Ile284Leu)
 gnomAD v4
2g.48688693C>ACA426124726GTF2A1L,LHCGR,STON1-GTF2A1Lc.1104G>T (p.Leu368=)
c.948-554G>T (n.948-554G>T)
c.3441+17013C>A (n.3441+17013C>A)
c.948-110G>T (n.948-110G>T)
c.1023G>T (p.Leu341=)
c.276+17013C>A (n.276+17013C>A)
c.*220+5531G>T (n.*220+5531G>T)
c.147G>T (p.Leu49=)
c.174G>T (p.Leu58=)
c.1029G>T (p.Leu343=)
c.843G>T (p.Leu281=)
c.762G>T (p.Leu254=)
c.468G>T (p.Leu156=)
c.849G>T (p.Leu283=)
2g.48688693C=CA1248601235GTF2A1L,LHCGR,STON1-GTF2A1Lc.1104G= (p.Leu368=)
c.948-554G= (n.948-554G=)
c.3441+17013C= (n.3441+17013C=)
c.948-110G= (n.948-110G=)
c.1023G= (p.Leu341=)
c.276+17013C= (n.276+17013C=)
c.*220+5531G= (n.*220+5531G=)
c.147G= (p.Leu49=)
c.174G= (p.Leu58=)
c.1029G= (p.Leu343=)
c.843G= (p.Leu281=)
c.762G= (p.Leu254=)
c.468G= (p.Leu156=)
c.849G= (p.Leu283=)

Number of alleles fetched