Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48755536_48755583delCA2658995083LHCGR,STON1-GTF2A1Lc.93_140del (p.Glu32_Pro47del)
c.3442-20744_3442-20697del (n.3442-20744_3442-20697del)
 gnomAD v4
2g.48755540delCA2658995084LHCGR,STON1-GTF2A1Lc.135del (p.Gly46AlafsTer18)
c.3442-20740del (n.3442-20740del)
c.33del (p.Gly12AlafsTer18)
 gnomAD v4
2g.48755538G>ACA346815439LHCGR,STON1-GTF2A1Lc.134C>T (p.Pro45Leu)
c.3442-20742G>A (n.3442-20742G>A)
c.32C>T (p.Pro11Leu)
 dbSNP gnomAD v4
2g.48755538G>CCA346815440LHCGR,STON1-GTF2A1Lc.134C>G (p.Pro45Arg)
c.3442-20742G>C (n.3442-20742G>C)
c.32C>G (p.Pro11Arg)
 gnomAD v4
2g.48755538G=CA1248636737LHCGR,STON1-GTF2A1Lc.134C= (p.Pro45=)
c.3442-20742G= (n.3442-20742G=)
c.32C= (p.Pro11=)
2g.48755538G>TCA346815441LHCGR,STON1-GTF2A1Lc.134C>A (p.Pro45His)
c.3442-20742G>T (n.3442-20742G>T)
c.32C>A (p.Pro11His)
 dbSNP gnomAD v3 gnomAD v4
2g.48755539G>ACA346815443LHCGR,STON1-GTF2A1Lc.133C>T (p.Pro45Ser)
c.3442-20741G>A (n.3442-20741G>A)
c.31C>T (p.Pro11Ser)
 gnomAD v4
2g.48755539G>CCA346815444LHCGR,STON1-GTF2A1Lc.133C>G (p.Pro45Ala)
c.3442-20741G>C (n.3442-20741G>C)
c.31C>G (p.Pro11Ala)
2g.48755539G>TCA346815442LHCGR,STON1-GTF2A1Lc.133C>A (p.Pro45Thr)
c.3442-20741G>T (n.3442-20741G>T)
c.31C>A (p.Pro11Thr)
 gnomAD v4
2g.48755540G>ACA426095157LHCGR,STON1-GTF2A1Lc.132C>T (p.Cys44=)
c.3442-20740G>A (n.3442-20740G>A)
c.30C>T (p.Cys10=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755540G>CCA346815445LHCGR,STON1-GTF2A1Lc.132C>G (p.Cys44Trp)
c.3442-20740G>C (n.3442-20740G>C)
c.30C>G (p.Cys10Trp)
2g.48755540G=CA1248636738LHCGR,STON1-GTF2A1Lc.132C= (p.Cys44=)
c.3442-20740G= (n.3442-20740G=)
c.30C= (p.Cys10=)
2g.48755540G>TCA346815446LHCGR,STON1-GTF2A1Lc.132C>A (p.Cys44Ter)
c.3442-20740G>T (n.3442-20740G>T)
c.30C>A (p.Cys10Ter)
 gnomAD v4
2g.48755541C>ACA346815447LHCGR,STON1-GTF2A1Lc.131G>T (p.Cys44Phe)
c.3442-20739C>A (n.3442-20739C>A)
c.29G>T (p.Cys10Phe)
 gnomAD v4
2g.48755541C>GCA346815448LHCGR,STON1-GTF2A1Lc.131G>C (p.Cys44Ser)
c.3442-20739C>G (n.3442-20739C>G)
c.29G>C (p.Cys10Ser)
2g.48755541C>TCA346815449LHCGR,STON1-GTF2A1Lc.131G>A (p.Cys44Tyr)
c.3442-20739C>T (n.3442-20739C>T)
c.29G>A (p.Cys10Tyr)
 gnomAD v4
2g.48755542A>CCA346815452LHCGR,STON1-GTF2A1Lc.130T>G (p.Cys44Gly)
c.3442-20738A>C (n.3442-20738A>C)
c.28T>G (p.Cys10Gly)
2g.48755542A>GCA346815450LHCGR,STON1-GTF2A1Lc.130T>C (p.Cys44Arg)
c.3442-20738A>G (n.3442-20738A>G)
c.28T>C (p.Cys10Arg)
2g.48755542A>TCA346815451LHCGR,STON1-GTF2A1Lc.130T>A (p.Cys44Ser)
c.3442-20738A>T (n.3442-20738A>T)
c.28T>A (p.Cys10Ser)
2g.48755543G>ACA426095158LHCGR,STON1-GTF2A1Lc.129C>T (p.Arg43=)
c.3442-20737G>A (n.3442-20737G>A)
c.27C>T (p.Arg9=)
2g.48755543G>CCA426095159LHCGR,STON1-GTF2A1Lc.129C>G (p.Arg43=)
c.3442-20737G>C (n.3442-20737G>C)
c.27C>G (p.Arg9=)
2g.48755543G>TCA426095160LHCGR,STON1-GTF2A1Lc.129C>A (p.Arg43=)
c.3442-20737G>T (n.3442-20737G>T)
c.27C>A (p.Arg9=)
 gnomAD v4
2g.48755544C>ACA346815453LHCGR,STON1-GTF2A1Lc.128G>T (p.Arg43Leu)
c.3442-20736C>A (n.3442-20736C>A)
c.26G>T (p.Arg9Leu)
 gnomAD v4
2g.48755544C>GCA346815454LHCGR,STON1-GTF2A1Lc.128G>C (p.Arg43Pro)
c.3442-20736C>G (n.3442-20736C>G)
c.26G>C (p.Arg9Pro)
2g.48755544C>TCA346815455LHCGR,STON1-GTF2A1Lc.128G>A (p.Arg43His)
c.3442-20736C>T (n.3442-20736C>T)
c.26G>A (p.Arg9His)
 gnomAD v4 COSMIC
2g.48755545G>ACA346815456LHCGR,STON1-GTF2A1Lc.127C>T (p.Arg43Cys)
c.3442-20735G>A (n.3442-20735G>A)
c.25C>T (p.Arg9Cys)
2g.48755545G>CCA346815457LHCGR,STON1-GTF2A1Lc.127C>G (p.Arg43Gly)
c.3442-20735G>C (n.3442-20735G>C)
c.25C>G (p.Arg9Gly)
2g.48755545G=CA1248636739LHCGR,STON1-GTF2A1Lc.127C= (p.Arg43=)
c.3442-20735G= (n.3442-20735G=)
c.25C= (p.Arg9=)
2g.48755545G>TCA346815458LHCGR,STON1-GTF2A1Lc.127C>A (p.Arg43Ser)
c.3442-20735G>T (n.3442-20735G>T)
c.25C>A (p.Arg9Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755546C>ACA426095161LHCGR,STON1-GTF2A1Lc.126G>T (p.Leu42=)
c.3442-20734C>A (n.3442-20734C>A)
c.24G>T (p.Leu8=)
2g.48755546C=CA1248636740LHCGR,STON1-GTF2A1Lc.126G= (p.Leu42=)
c.3442-20734C= (n.3442-20734C=)
c.24G= (p.Leu8=)
2g.48755546C>GCA426095162LHCGR,STON1-GTF2A1Lc.126G>C (p.Leu42=)
c.3442-20734C>G (n.3442-20734C>G)
c.24G>C (p.Leu8=)
2g.48755546C>TCA426095163LHCGR,STON1-GTF2A1Lc.126G>A (p.Leu42=)
c.3442-20734C>T (n.3442-20734C>T)
c.24G>A (p.Leu8=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755547A=CA1248636741LHCGR,STON1-GTF2A1Lc.125T= (p.Leu42=)
c.3442-20733A= (n.3442-20733A=)
c.23T= (p.Leu8=)
2g.48755547A>CCA346815460LHCGR,STON1-GTF2A1Lc.125T>G (p.Leu42Arg)
c.3442-20733A>C (n.3442-20733A>C)
c.23T>G (p.Leu8Arg)
2g.48755547A>GCA346815461LHCGR,STON1-GTF2A1Lc.125T>C (p.Leu42Pro)
c.3442-20733A>G (n.3442-20733A>G)
c.23T>C (p.Leu8Pro)
 dbSNP gnomAD v4
2g.48755547A>TCA346815459LHCGR,STON1-GTF2A1Lc.125T>A (p.Leu42Gln)
c.3442-20733A>T (n.3442-20733A>T)
c.23T>A (p.Leu8Gln)
 gnomAD v4
2g.48755548G>ACA426095164LHCGR,STON1-GTF2A1Lc.124C>T (p.Leu42=)
c.3442-20732G>A (n.3442-20732G>A)
c.22C>T (p.Leu8=)
 dbSNP gnomAD v2 gnomAD v4
2g.48755548G>CCA346815463LHCGR,STON1-GTF2A1Lc.124C>G (p.Leu42Val)
c.3442-20732G>C (n.3442-20732G>C)
c.22C>G (p.Leu8Val)
2g.48755548G=CA1248636742LHCGR,STON1-GTF2A1Lc.124C= (p.Leu42=)
c.3442-20732G= (n.3442-20732G=)
c.22C= (p.Leu8=)
2g.48755548G>TCA346815462LHCGR,STON1-GTF2A1Lc.124C>A (p.Leu42Met)
c.3442-20732G>T (n.3442-20732G>T)
c.22C>A (p.Leu8Met)
 gnomAD v4
2g.48755549G>ACA426095165LHCGR,STON1-GTF2A1Lc.123C>T (p.Ala41=)
c.3442-20731G>A (n.3442-20731G>A)
c.21C>T (p.Ala7=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755549G>CCA426095166LHCGR,STON1-GTF2A1Lc.123C>G (p.Ala41=)
c.3442-20731G>C (n.3442-20731G>C)
c.21C>G (p.Ala7=)
2g.48755549G=CA1248636743LHCGR,STON1-GTF2A1Lc.123C= (p.Ala41=)
c.3442-20731G= (n.3442-20731G=)
c.21C= (p.Ala7=)
2g.48755549G>TCA426095167LHCGR,STON1-GTF2A1Lc.123C>A (p.Ala41=)
c.3442-20731G>T (n.3442-20731G>T)
c.21C>A (p.Ala7=)
 gnomAD v4
2g.48755550G>ACA346815465LHCGR,STON1-GTF2A1Lc.122C>T (p.Ala41Val)
c.3442-20730G>A (n.3442-20730G>A)
c.20C>T (p.Ala7Val)
 gnomAD v4
2g.48755550G>CCA346815464LHCGR,STON1-GTF2A1Lc.122C>G (p.Ala41Gly)
c.3442-20730G>C (n.3442-20730G>C)
c.20C>G (p.Ala7Gly)
2g.48755550G>TCA346815466LHCGR,STON1-GTF2A1Lc.122C>A (p.Ala41Asp)
c.3442-20730G>T (n.3442-20730G>T)
c.20C>A (p.Ala7Asp)
 gnomAD v4
2g.48755551C>ACA346815467LHCGR,STON1-GTF2A1Lc.121G>T (p.Ala41Ser)
c.3442-20729C>A (n.3442-20729C>A)
c.19G>T (p.Ala7Ser)
 gnomAD v4
2g.48755551C>GCA346815469LHCGR,STON1-GTF2A1Lc.121G>C (p.Ala41Pro)
c.3442-20729C>G (n.3442-20729C>G)
c.19G>C (p.Ala7Pro)
2g.48755551C>TCA346815468LHCGR,STON1-GTF2A1Lc.121G>A (p.Ala41Thr)
c.3442-20729C>T (n.3442-20729C>T)
c.19G>A (p.Ala7Thr)
 gnomAD v4
2g.48755552G>ACA426095169LHCGR,STON1-GTF2A1Lc.120C>T (p.Gly40=)
c.3442-20728G>A (n.3442-20728G>A)
c.18C>T (p.Gly6=)
 gnomAD v4
2g.48755552G>CCA426095170LHCGR,STON1-GTF2A1Lc.120C>G (p.Gly40=)
c.3442-20728G>C (n.3442-20728G>C)
c.18C>G (p.Gly6=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755552G=CA1248636744LHCGR,STON1-GTF2A1Lc.120C= (p.Gly40=)
c.3442-20728G= (n.3442-20728G=)
c.18C= (p.Gly6=)
2g.48755552G>TCA426095168LHCGR,STON1-GTF2A1Lc.120C>A (p.Gly40=)
c.3442-20728G>T (n.3442-20728G>T)
c.18C>A (p.Gly6=)
 gnomAD v4
2g.48755553C>ACA346815470LHCGR,STON1-GTF2A1Lc.119G>T (p.Gly40Val)
c.3442-20727C>A (n.3442-20727C>A)
c.17G>T (p.Gly6Val)
 gnomAD v4
2g.48755553C=CA1248636745LHCGR,STON1-GTF2A1Lc.119G= (p.Gly40=)
c.3442-20727C= (n.3442-20727C=)
c.17G= (p.Gly6=)
2g.48755553C>GCA346815471LHCGR,STON1-GTF2A1Lc.119G>C (p.Gly40Ala)
c.3442-20727C>G (n.3442-20727C>G)
c.17G>C (p.Gly6Ala)
2g.48755553C>TCA47295568LHCGR,STON1-GTF2A1Lc.119G>A (p.Gly40Asp)
c.3442-20727C>T (n.3442-20727C>T)
c.17G>A (p.Gly6Asp)
 dbSNP gnomAD v4
2g.48755554C>ACA346815472LHCGR,STON1-GTF2A1Lc.118G>T (p.Gly40Cys)
c.3442-20726C>A (n.3442-20726C>A)
c.16G>T (p.Gly6Cys)
 ClinVar gnomAD v4
2g.48755554C=CA1248636746LHCGR,STON1-GTF2A1Lc.118G= (p.Gly40=)
c.3442-20726C= (n.3442-20726C=)
c.16G= (p.Gly6=)
2g.48755554C>GCA346815474LHCGR,STON1-GTF2A1Lc.118G>C (p.Gly40Arg)
c.3442-20726C>G (n.3442-20726C>G)
c.16G>C (p.Gly6Arg)
 dbSNP
2g.48755554C>TCA346815473LHCGR,STON1-GTF2A1Lc.118G>A (p.Gly40Ser)
c.3442-20726C>T (n.3442-20726C>T)
c.16G>A (p.Gly6Ser)
 gnomAD v4
2g.48755555G>ACA426095171LHCGR,STON1-GTF2A1Lc.117C>T (p.Asp39=)
c.3442-20725G>A (n.3442-20725G>A)
c.15C>T (p.Asp5=)
 dbSNP gnomAD v2 gnomAD v4
2g.48755555G>CCA346815475LHCGR,STON1-GTF2A1Lc.117C>G (p.Asp39Glu)
c.3442-20725G>C (n.3442-20725G>C)
c.15C>G (p.Asp5Glu)
2g.48755555G=CA1248636747LHCGR,STON1-GTF2A1Lc.117C= (p.Asp39=)
c.3442-20725G= (n.3442-20725G=)
c.15C= (p.Asp5=)
2g.48755555G>TCA346815476LHCGR,STON1-GTF2A1Lc.117C>A (p.Asp39Glu)
c.3442-20725G>T (n.3442-20725G>T)
c.15C>A (p.Asp5Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.48755556T>ACA346815477LHCGR,STON1-GTF2A1Lc.116A>T (p.Asp39Val)
c.3442-20724T>A (n.3442-20724T>A)
c.14A>T (p.Asp5Val)
2g.48755556T>CCA346815478LHCGR,STON1-GTF2A1Lc.116A>G (p.Asp39Gly)
c.3442-20724T>C (n.3442-20724T>C)
c.14A>G (p.Asp5Gly)
 dbSNP
2g.48755556T>GCA346815479LHCGR,STON1-GTF2A1Lc.116A>C (p.Asp39Ala)
c.3442-20724T>G (n.3442-20724T>G)
c.14A>C (p.Asp5Ala)
2g.48755557C>ACA346815480LHCGR,STON1-GTF2A1Lc.115G>T (p.Asp39Tyr)
c.3442-20723C>A (n.3442-20723C>A)
c.13G>T (p.Asp5Tyr)
2g.48755557C=CA1248636748LHCGR,STON1-GTF2A1Lc.115G= (p.Asp39=)
c.3442-20723C= (n.3442-20723C=)
c.13G= (p.Asp5=)
2g.48755557C>GCA346815481LHCGR,STON1-GTF2A1Lc.115G>C (p.Asp39His)
c.3442-20723C>G (n.3442-20723C>G)
c.13G>C (p.Asp5His)
2g.48755557C>TCA1653486LHCGR,STON1-GTF2A1Lc.115G>A (p.Asp39Asn)
c.3442-20723C>T (n.3442-20723C>T)
c.13G>A (p.Asp5Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48755558G>ACA426095172LHCGR,STON1-GTF2A1Lc.114C>T (p.Pro38=)
c.3442-20722G>A (n.3442-20722G>A)
c.12C>T (p.Pro4=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755558G>CCA1653487LHCGR,STON1-GTF2A1Lc.114C>G (p.Pro38=)
c.3442-20722G>C (n.3442-20722G>C)
c.12C>G (p.Pro4=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48755558G=CA1248636749LHCGR,STON1-GTF2A1Lc.114C= (p.Pro38=)
c.3442-20722G= (n.3442-20722G=)
c.12C= (p.Pro4=)
2g.48755558G>TCA426095173LHCGR,STON1-GTF2A1Lc.114C>A (p.Pro38=)
c.3442-20722G>T (n.3442-20722G>T)
c.12C>A (p.Pro4=)
 gnomAD v4
2g.48755559G>ACA346815484LHCGR,STON1-GTF2A1Lc.113C>T (p.Pro38Leu)
c.3442-20721G>A (n.3442-20721G>A)
c.11C>T (p.Pro4Leu)
2g.48755559G>CCA346815483LHCGR,STON1-GTF2A1Lc.113C>G (p.Pro38Arg)
c.3442-20721G>C (n.3442-20721G>C)
c.11C>G (p.Pro4Arg)
 gnomAD v4
2g.48755559G>TCA346815482LHCGR,STON1-GTF2A1Lc.113C>A (p.Pro38His)
c.3442-20721G>T (n.3442-20721G>T)
c.11C>A (p.Pro4His)
 gnomAD v4
2g.48755560G>ACA346815485LHCGR,STON1-GTF2A1Lc.112C>T (p.Pro38Ser)
c.3442-20720G>A (n.3442-20720G>A)
c.10C>T (p.Pro4Ser)
 gnomAD v4
2g.48755560G>CCA346815486LHCGR,STON1-GTF2A1Lc.112C>G (p.Pro38Ala)
c.3442-20720G>C (n.3442-20720G>C)
c.10C>G (p.Pro4Ala)
2g.48755560G=CA1248636750LHCGR,STON1-GTF2A1Lc.112C= (p.Pro38=)
c.3442-20720G= (n.3442-20720G=)
c.10C= (p.Pro4=)
2g.48755560G>TCA346815487LHCGR,STON1-GTF2A1Lc.112C>A (p.Pro38Thr)
c.3442-20720G>T (n.3442-20720G>T)
c.10C>A (p.Pro4Thr)
 dbSNP gnomAD v4
2g.48755561C>ACA426095174LHCGR,STON1-GTF2A1Lc.111G>T (p.Val37=)
c.3442-20719C>A (n.3442-20719C>A)
c.9G>T (p.Val3=)
 gnomAD v4
2g.48755561C>GCA426095175LHCGR,STON1-GTF2A1Lc.111G>C (p.Val37=)
c.3442-20719C>G (n.3442-20719C>G)
c.9G>C (p.Val3=)
2g.48755561C>TCA426095176LHCGR,STON1-GTF2A1Lc.111G>A (p.Val37=)
c.3442-20719C>T (n.3442-20719C>T)
c.9G>A (p.Val3=)
 gnomAD v4
2g.48755562A>CCA346815488LHCGR,STON1-GTF2A1Lc.110T>G (p.Val37Gly)
c.3442-20718A>C (n.3442-20718A>C)
c.8T>G (p.Val3Gly)
2g.48755562A>GCA346815489LHCGR,STON1-GTF2A1Lc.110T>C (p.Val37Ala)
c.3442-20718A>G (n.3442-20718A>G)
c.8T>C (p.Val3Ala)
2g.48755562A>TCA346815490LHCGR,STON1-GTF2A1Lc.110T>A (p.Val37Glu)
c.3442-20718A>T (n.3442-20718A>T)
c.8T>A (p.Val3Glu)
 gnomAD v4
2g.48755563C>ACA346815491LHCGR,STON1-GTF2A1Lc.109G>T (p.Val37Leu)
c.3442-20717C>A (n.3442-20717C>A)
c.7G>T (p.Val3Leu)
 gnomAD v4
2g.48755563C=CA1248636751LHCGR,STON1-GTF2A1Lc.109G= (p.Val37=)
c.3442-20717C= (n.3442-20717C=)
c.7G= (p.Val3=)
2g.48755563C>GCA346815492LHCGR,STON1-GTF2A1Lc.109G>C (p.Val37Leu)
c.3442-20717C>G (n.3442-20717C>G)
c.7G>C (p.Val3Leu)
 dbSNP
2g.48755563C>TCA346815493LHCGR,STON1-GTF2A1Lc.109G>A (p.Val37Met)
c.3442-20717C>T (n.3442-20717C>T)
c.7G>A (p.Val3Met)
 dbSNP gnomAD v4
2g.48755564G>ACA426095177LHCGR,STON1-GTF2A1Lc.108C>T (p.Cys36=)
c.3442-20716G>A (n.3442-20716G>A)
c.6C>T (p.Cys2=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755564G>CCA346815494LHCGR,STON1-GTF2A1Lc.108C>G (p.Cys36Trp)
c.3442-20716G>C (n.3442-20716G>C)
c.6C>G (p.Cys2Trp)
2g.48755564G=CA1248636752LHCGR,STON1-GTF2A1Lc.108C= (p.Cys36=)
c.3442-20716G= (n.3442-20716G=)
c.6C= (p.Cys2=)
2g.48755564G>TCA346815495LHCGR,STON1-GTF2A1Lc.108C>A (p.Cys36Ter)
c.3442-20716G>T (n.3442-20716G>T)
c.6C>A (p.Cys2Ter)
 gnomAD v4
2g.48755565C>ACA346815497LHCGR,STON1-GTF2A1Lc.107G>T (p.Cys36Phe)
c.3442-20715C>A (n.3442-20715C>A)
c.5G>T (p.Cys2Phe)
2g.48755565C>GCA346815498LHCGR,STON1-GTF2A1Lc.107G>C (p.Cys36Ser)
c.3442-20715C>G (n.3442-20715C>G)
c.5G>C (p.Cys2Ser)
2g.48755565C>TCA346815496LHCGR,STON1-GTF2A1Lc.107G>A (p.Cys36Tyr)
c.3442-20715C>T (n.3442-20715C>T)
c.5G>A (p.Cys2Tyr)
2g.48755566A>CCA346815499LHCGR,STON1-GTF2A1Lc.106T>G (p.Cys36Gly)
c.3442-20714A>C (n.3442-20714A>C)
c.4T>G (p.Cys2Gly)
2g.48755566A>GCA346815500LHCGR,STON1-GTF2A1Lc.106T>C (p.Cys36Arg)
c.3442-20714A>G (n.3442-20714A>G)
c.4T>C (p.Cys2Arg)
 gnomAD v4
2g.48755566A>TCA346815501LHCGR,STON1-GTF2A1Lc.106T>A (p.Cys36Ser)
c.3442-20714A>T (n.3442-20714A>T)
c.4T>A (p.Cys2Ser)
 gnomAD v4
2g.48755567G>ACA426095178LHCGR,STON1-GTF2A1Lc.105C>T (p.Asn35=)
c.3442-20713G>A (n.3442-20713G>A)
c.3C>T (p.Asn1=)
 gnomAD v4
2g.48755567G>CCA346815502LHCGR,STON1-GTF2A1Lc.105C>G (p.Asn35Lys)
c.3442-20713G>C (n.3442-20713G>C)
c.3C>G (p.Asn1Lys)
2g.48755567G>TCA346815503LHCGR,STON1-GTF2A1Lc.105C>A (p.Asn35Lys)
c.3442-20713G>T (n.3442-20713G>T)
c.3C>A (p.Asn1Lys)
 gnomAD v4
2g.48755568T>ACA346815506LHCGR,STON1-GTF2A1Lc.104A>T (p.Asn35Ile)
c.3442-20712T>A (n.3442-20712T>A)
c.2A>T (p.Asn1Ile)
2g.48755568T>CCA346815504LHCGR,STON1-GTF2A1Lc.104A>G (p.Asn35Ser)
c.3442-20712T>C (n.3442-20712T>C)
c.2A>G (p.Asn1Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48755568T>GCA346815505LHCGR,STON1-GTF2A1Lc.104A>C (p.Asn35Thr)
c.3442-20712T>G (n.3442-20712T>G)
c.2A>C (p.Asn1Thr)
2g.48755568T=CA1248636753LHCGR,STON1-GTF2A1Lc.104A= (p.Asn35=)
c.3442-20712T= (n.3442-20712T=)
c.2A= (p.Asn1=)
2g.48755569T>ACA346815507LHCGR,STON1-GTF2A1Lc.103A>T (p.Asn35Tyr)
c.3442-20711T>A (n.3442-20711T>A)
c.1A>T (p.Asn1Tyr)
 dbSNP gnomAD v4
2g.48755569T>CCA346815508LHCGR,STON1-GTF2A1Lc.103A>G (p.Asn35Asp)
c.3442-20711T>C (n.3442-20711T>C)
c.1A>G (p.Asn1Asp)
 gnomAD v4
2g.48755569T>GCA346815509LHCGR,STON1-GTF2A1Lc.103A>C (p.Asn35His)
c.3442-20711T>G (n.3442-20711T>G)
c.1A>C (p.Asn1His)
 dbSNP
2g.48755569T=CA1248636754LHCGR,STON1-GTF2A1Lc.103A= (p.Asn35=)
c.3442-20711T= (n.3442-20711T=)
c.1A= (p.Asn1=)
2g.48755570G>ACA426095179LHCGR,STON1-GTF2A1Lc.102C>T (p.Cys34=)
c.3442-20710G>A (n.3442-20710G>A)
 dbSNP gnomAD v4
2g.48755570G>CCA346815510LHCGR,STON1-GTF2A1Lc.102C>G (p.Cys34Trp)
c.3442-20710G>C (n.3442-20710G>C)
2g.48755570G=CA1248636755LHCGR,STON1-GTF2A1Lc.102C= (p.Cys34=)
c.3442-20710G= (n.3442-20710G=)
2g.48755570G>TCA346815511LHCGR,STON1-GTF2A1Lc.102C>A (p.Cys34Ter)
c.3442-20710G>T (n.3442-20710G>T)
 gnomAD v4
2g.48755571C>ACA346815512LHCGR,STON1-GTF2A1Lc.101G>T (p.Cys34Phe)
c.3442-20709C>A (n.3442-20709C>A)
 gnomAD v4
2g.48755571C=CA1248636756LHCGR,STON1-GTF2A1Lc.101G= (p.Cys34=)
c.3442-20709C= (n.3442-20709C=)
2g.48755571C>GCA346815514LHCGR,STON1-GTF2A1Lc.101G>C (p.Cys34Ser)
c.3442-20709C>G (n.3442-20709C>G)
2g.48755571C>TCA346815513LHCGR,STON1-GTF2A1Lc.101G>A (p.Cys34Tyr)
c.3442-20709C>T (n.3442-20709C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.48755572A>CCA346815515LHCGR,STON1-GTF2A1Lc.100T>G (p.Cys34Gly)
c.3442-20708A>C (n.3442-20708A>C)
2g.48755572A>GCA346815516LHCGR,STON1-GTF2A1Lc.100T>C (p.Cys34Arg)
c.3442-20708A>G (n.3442-20708A>G)
 gnomAD v4
2g.48755572A>TCA346815517LHCGR,STON1-GTF2A1Lc.100T>A (p.Cys34Ser)
c.3442-20708A>T (n.3442-20708A>T)
2g.48755573G>ACA426095180LHCGR,STON1-GTF2A1Lc.99C>T (p.Pro33=)
c.3442-20707G>A (n.3442-20707G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.48755573G>CCA426095182LHCGR,STON1-GTF2A1Lc.99C>G (p.Pro33=)
c.3442-20707G>C (n.3442-20707G>C)
 gnomAD v4
2g.48755573G=CA1248636757LHCGR,STON1-GTF2A1Lc.99C= (p.Pro33=)
c.3442-20707G= (n.3442-20707G=)
2g.48755573G>TCA426095181LHCGR,STON1-GTF2A1Lc.99C>A (p.Pro33=)
c.3442-20707G>T (n.3442-20707G>T)
 gnomAD v4
2g.48755575delCA2658995086LHCGR,STON1-GTF2A1Lc.99del (p.Cys34AlafsTer?)
c.3442-20705del (n.3442-20705del)
 gnomAD v4
2g.48755573_48755578dupCA2658995085LHCGR,STON1-GTF2A1Lc.94_99dup (p.Pro33_Cys34insGluPro)
c.3442-20707_3442-20702dup (n.3442-20707_3442-20702dup)
 gnomAD v4
2g.48755574G>ACA346815518LHCGR,STON1-GTF2A1Lc.98C>T (p.Pro33Leu)
c.3442-20706G>A (n.3442-20706G>A)
2g.48755574G>CCA346815519LHCGR,STON1-GTF2A1Lc.98C>G (p.Pro33Arg)
c.3442-20706G>C (n.3442-20706G>C)
2g.48755574G>TCA346815520LHCGR,STON1-GTF2A1Lc.98C>A (p.Pro33His)
c.3442-20706G>T (n.3442-20706G>T)
 gnomAD v4
2g.48755575G>ACA346815521LHCGR,STON1-GTF2A1Lc.97C>T (p.Pro33Ser)
c.3442-20705G>A (n.3442-20705G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.48755575G>CCA346815522LHCGR,STON1-GTF2A1Lc.97C>G (p.Pro33Ala)
c.3442-20705G>C (n.3442-20705G>C)
2g.48755575G=CA1248636759LHCGR,STON1-GTF2A1Lc.97C= (p.Pro33=)
c.3442-20705G= (n.3442-20705G=)
2g.48755575G>TCA346815523LHCGR,STON1-GTF2A1Lc.97C>A (p.Pro33Thr)
c.3442-20705G>T (n.3442-20705G>T)
 gnomAD v4
2g.48755575_48755590delinsGCTCAGGGCAGAGCGCCA1248636758LHCGR,STON1-GTF2A1Lc.82_97delinsGCGCTCTGCCCTGAGC (p.Ala28=)
c.3442-20705_3442-20690delinsGCTCAGGGCAGAGCGC (n.3442-20705_3442-20690delinsGCTCAGGGCAGAGCGC)
2g.48755576delCA2658995087LHCGR,STON1-GTF2A1Lc.96del (p.Glu32AspfsTer?)
c.3442-20704del (n.3442-20704del)
 gnomAD v4
2g.48755576C>ACA346815524LHCGR,STON1-GTF2A1Lc.96G>T (p.Glu32Asp)
c.3442-20704C>A (n.3442-20704C>A)
 gnomAD v4
2g.48755576C=CA1248636760LHCGR,STON1-GTF2A1Lc.96G= (p.Glu32=)
c.3442-20704C= (n.3442-20704C=)
2g.48755576C>GCA346815525LHCGR,STON1-GTF2A1Lc.96G>C (p.Glu32Asp)
c.3442-20704C>G (n.3442-20704C>G)
2g.48755576C>TCA47295569LHCGR,STON1-GTF2A1Lc.96G>A (p.Glu32=)
c.3442-20704C>T (n.3442-20704C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.48755579_48755593delCA769618111LHCGR,STON1-GTF2A1Lc.82_96del (p.Ala28_Glu32del)
c.3442-20701_3442-20687del (n.3442-20701_3442-20687del)
 dbSNP gnomAD v3 gnomAD v4
2g.48755577T>ACA346815528LHCGR,STON1-GTF2A1Lc.95A>T (p.Glu32Val)
c.3442-20703T>A (n.3442-20703T>A)
2g.48755577T>CCA346815527LHCGR,STON1-GTF2A1Lc.95A>G (p.Glu32Gly)
c.3442-20703T>C (n.3442-20703T>C)
 dbSNP gnomAD v4
2g.48755577T>GCA346815526LHCGR,STON1-GTF2A1Lc.95A>C (p.Glu32Ala)
c.3442-20703T>G (n.3442-20703T>G)
2g.48755578C>ACA346815529LHCGR,STON1-GTF2A1Lc.94G>T (p.Glu32Ter)
c.3442-20702C>A (n.3442-20702C>A)
2g.48755578C=CA1248636761LHCGR,STON1-GTF2A1Lc.94G= (p.Glu32=)
c.3442-20702C= (n.3442-20702C=)
2g.48755578C>GCA346815530LHCGR,STON1-GTF2A1Lc.94G>C (p.Glu32Gln)
c.3442-20702C>G (n.3442-20702C>G)
2g.48755578C>TCA346815531LHCGR,STON1-GTF2A1Lc.94G>A (p.Glu32Lys)
c.3442-20702C>T (n.3442-20702C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48755579A=CA1248636762LHCGR,STON1-GTF2A1Lc.93T= (p.Pro31=)
c.3442-20701A= (n.3442-20701A=)
2g.48755579A>CCA426095183LHCGR,STON1-GTF2A1Lc.93T>G (p.Pro31=)
c.3442-20701A>C (n.3442-20701A>C)
2g.48755579A>GCA426095184LHCGR,STON1-GTF2A1Lc.93T>C (p.Pro31=)
c.3442-20701A>G (n.3442-20701A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.48755579A>TCA426095185LHCGR,STON1-GTF2A1Lc.93T>A (p.Pro31=)
c.3442-20701A>T (n.3442-20701A>T)
2g.48755580G>ACA346815532LHCGR,STON1-GTF2A1Lc.92C>T (p.Pro31Leu)
c.3442-20700G>A (n.3442-20700G>A)
 dbSNP gnomAD v4
2g.48755580G>CCA47295570LHCGR,STON1-GTF2A1Lc.92C>G (p.Pro31Arg)
c.3442-20700G>C (n.3442-20700G>C)
 dbSNP gnomAD v4
2g.48755580G=CA1248636763LHCGR,STON1-GTF2A1Lc.92C= (p.Pro31=)
c.3442-20700G= (n.3442-20700G=)
2g.48755580G>TCA346815533LHCGR,STON1-GTF2A1Lc.92C>A (p.Pro31His)
c.3442-20700G>T (n.3442-20700G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.48755581G>ACA346815536LHCGR,STON1-GTF2A1Lc.91C>T (p.Pro31Ser)
c.3442-20699G>A (n.3442-20699G>A)
2g.48755581G>CCA346815534LHCGR,STON1-GTF2A1Lc.91C>G (p.Pro31Ala)
c.3442-20699G>C (n.3442-20699G>C)
2g.48755581G>TCA346815535LHCGR,STON1-GTF2A1Lc.91C>A (p.Pro31Thr)
c.3442-20699G>T (n.3442-20699G>T)
 gnomAD v4
2g.48755582G>ACA426095187LHCGR,STON1-GTF2A1Lc.90C>T (p.Cys30=)
c.3442-20698G>A (n.3442-20698G>A)
 gnomAD v4
2g.48755582G>CCA346815537LHCGR,STON1-GTF2A1Lc.90C>G (p.Cys30Trp)
c.3442-20698G>C (n.3442-20698G>C)
2g.48755582G>TCA346815538LHCGR,STON1-GTF2A1Lc.90C>A (p.Cys30Ter)
c.3442-20698G>T (n.3442-20698G>T)
 gnomAD v4
2g.48755583C>ACA346815539LHCGR,STON1-GTF2A1Lc.89G>T (p.Cys30Phe)
c.3442-20697C>A (n.3442-20697C>A)
2g.48755583C>GCA346815540LHCGR,STON1-GTF2A1Lc.89G>C (p.Cys30Ser)
c.3442-20697C>G (n.3442-20697C>G)
2g.48755583C>TCA346815541LHCGR,STON1-GTF2A1Lc.89G>A (p.Cys30Tyr)
c.3442-20697C>T (n.3442-20697C>T)
 gnomAD v4
2g.48755584A=CA1248636764LHCGR,STON1-GTF2A1Lc.88T= (p.Cys30=)
c.3442-20696A= (n.3442-20696A=)
2g.48755584A>CCA346815544LHCGR,STON1-GTF2A1Lc.88T>G (p.Cys30Gly)
c.3442-20696A>C (n.3442-20696A>C)
2g.48755584A>GCA346815542LHCGR,STON1-GTF2A1Lc.88T>C (p.Cys30Arg)
c.3442-20696A>G (n.3442-20696A>G)
 dbSNP gnomAD v2
2g.48755584A>TCA346815543LHCGR,STON1-GTF2A1Lc.88T>A (p.Cys30Ser)
c.3442-20696A>T (n.3442-20696A>T)
2g.48755585G>ACA426095188LHCGR,STON1-GTF2A1Lc.87C>T (p.Leu29=)
c.3442-20695G>A (n.3442-20695G>A)
2g.48755585G>CCA426095189LHCGR,STON1-GTF2A1Lc.87C>G (p.Leu29=)
c.3442-20695G>C (n.3442-20695G>C)
2g.48755585G>TCA426095190LHCGR,STON1-GTF2A1Lc.87C>A (p.Leu29=)
c.3442-20695G>T (n.3442-20695G>T)
 gnomAD v4
2g.48755585_48755597delinsGAGCGCCTCGCGCCA1248636765LHCGR,STON1-GTF2A1Lc.75_87delinsGCGCGAGGCGCTC (p.Leu25=)
c.3442-20695_3442-20683delinsGAGCGCCTCGCGC (n.3442-20695_3442-20683delinsGAGCGCCTCGCGC)
2g.48755586A>CCA346815545LHCGR,STON1-GTF2A1Lc.86T>G (p.Leu29Arg)
c.3442-20694A>C (n.3442-20694A>C)
2g.48755586A>GCA346815546LHCGR,STON1-GTF2A1Lc.86T>C (p.Leu29Pro)
c.3442-20694A>G (n.3442-20694A>G)
2g.48755586A>TCA346815547LHCGR,STON1-GTF2A1Lc.86T>A (p.Leu29His)
c.3442-20694A>T (n.3442-20694A>T)
2g.48755591_48755602delCA532559202LHCGR,STON1-GTF2A1Lc.75_86del (p.Arg26_Leu29del)
c.3442-20689_3442-20678del (n.3442-20689_3442-20678del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755587G>ACA346815548LHCGR,STON1-GTF2A1Lc.85C>T (p.Leu29Phe)
c.3442-20693G>A (n.3442-20693G>A)
 gnomAD v4
2g.48755587G>CCA346815549LHCGR,STON1-GTF2A1Lc.85C>G (p.Leu29Val)
c.3442-20693G>C (n.3442-20693G>C)
2g.48755587G>TCA346815550LHCGR,STON1-GTF2A1Lc.85C>A (p.Leu29Ile)
c.3442-20693G>T (n.3442-20693G>T)
 gnomAD v4
2g.48755588C>ACA426095192LHCGR,STON1-GTF2A1Lc.84G>T (p.Ala28=)
c.3442-20692C>A (n.3442-20692C>A)
 gnomAD v4
2g.48755588C>GCA426095193LHCGR,STON1-GTF2A1Lc.84G>C (p.Ala28=)
c.3442-20692C>G (n.3442-20692C>G)
 gnomAD v4
2g.48755588C>TCA426095194LHCGR,STON1-GTF2A1Lc.84G>A (p.Ala28=)
c.3442-20692C>T (n.3442-20692C>T)
 gnomAD v4
2g.48755589G>ACA346815551LHCGR,STON1-GTF2A1Lc.83C>T (p.Ala28Val)
c.3442-20691G>A (n.3442-20691G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.48755589G>CCA346815552LHCGR,STON1-GTF2A1Lc.83C>G (p.Ala28Gly)
c.3442-20691G>C (n.3442-20691G>C)
 dbSNP gnomAD v4
2g.48755589G=CA1248636766LHCGR,STON1-GTF2A1Lc.83C= (p.Ala28=)
c.3442-20691G= (n.3442-20691G=)
2g.48755589G>TCA346815553LHCGR,STON1-GTF2A1Lc.83C>A (p.Ala28Glu)
c.3442-20691G>T (n.3442-20691G>T)
 gnomAD v4
2g.48755590C>ACA346815554LHCGR,STON1-GTF2A1Lc.82G>T (p.Ala28Ser)
c.3442-20690C>A (n.3442-20690C>A)
 gnomAD v4
2g.48755590C>GCA346815555LHCGR,STON1-GTF2A1Lc.82G>C (p.Ala28Pro)
c.3442-20690C>G (n.3442-20690C>G)
2g.48755590C>TCA346815556LHCGR,STON1-GTF2A1Lc.82G>A (p.Ala28Thr)
c.3442-20690C>T (n.3442-20690C>T)
2g.48755591C>ACA346815557LHCGR,STON1-GTF2A1Lc.81G>T (p.Glu27Asp)
c.3442-20689C>A (n.3442-20689C>A)
 COSMIC
2g.48755591C=CA1248636767LHCGR,STON1-GTF2A1Lc.81G= (p.Glu27=)
c.3442-20689C= (n.3442-20689C=)
2g.48755591C>GCA346815558LHCGR,STON1-GTF2A1Lc.81G>C (p.Glu27Asp)
c.3442-20689C>G (n.3442-20689C>G)
2g.48755591C>TCA1653488LHCGR,STON1-GTF2A1Lc.81G>A (p.Glu27=)
c.3442-20689C>T (n.3442-20689C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48755592T>ACA346815559LHCGR,STON1-GTF2A1Lc.80A>T (p.Glu27Val)
c.3442-20688T>A (n.3442-20688T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755592T>CCA346815560LHCGR,STON1-GTF2A1Lc.80A>G (p.Glu27Gly)
c.3442-20688T>C (n.3442-20688T>C)
 gnomAD v4
2g.48755592T>GCA346815561LHCGR,STON1-GTF2A1Lc.80A>C (p.Glu27Ala)
c.3442-20688T>G (n.3442-20688T>G)
2g.48755592T=CA1248636768LHCGR,STON1-GTF2A1Lc.80A= (p.Glu27=)
c.3442-20688T= (n.3442-20688T=)
2g.48755593C>ACA346815562LHCGR,STON1-GTF2A1Lc.79G>T (p.Glu27Ter)
c.3442-20687C>A (n.3442-20687C>A)
2g.48755593C=CA1248636769LHCGR,STON1-GTF2A1Lc.79G= (p.Glu27=)
c.3442-20687C= (n.3442-20687C=)
2g.48755593C>GCA346815563LHCGR,STON1-GTF2A1Lc.79G>C (p.Glu27Gln)
c.3442-20687C>G (n.3442-20687C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.48755593C>TCA47295571LHCGR,STON1-GTF2A1Lc.79G>A (p.Glu27Lys)
c.3442-20687C>T (n.3442-20687C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48755594G>ACA426095195LHCGR,STON1-GTF2A1Lc.78C>T (p.Arg26=)
c.3442-20686G>A (n.3442-20686G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.48755594G>CCA426095196LHCGR,STON1-GTF2A1Lc.78C>G (p.Arg26=)
c.3442-20686G>C (n.3442-20686G>C)
 dbSNP
2g.48755594G=CA1248636770LHCGR,STON1-GTF2A1Lc.78C= (p.Arg26=)
c.3442-20686G= (n.3442-20686G=)
2g.48755594G>TCA426095197LHCGR,STON1-GTF2A1Lc.78C>A (p.Arg26=)
c.3442-20686G>T (n.3442-20686G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.48755595C>ACA346815564LHCGR,STON1-GTF2A1Lc.77G>T (p.Arg26Leu)
c.3442-20685C>A (n.3442-20685C>A)
 dbSNP gnomAD v4
2g.48755595C=CA1248636771LHCGR,STON1-GTF2A1Lc.77G= (p.Arg26=)
c.3442-20685C= (n.3442-20685C=)
2g.48755595C>GCA346815565LHCGR,STON1-GTF2A1Lc.77G>C (p.Arg26Pro)
c.3442-20685C>G (n.3442-20685C>G)
2g.48755595C>TCA346815566LHCGR,STON1-GTF2A1Lc.77G>A (p.Arg26His)
c.3442-20685C>T (n.3442-20685C>T)
 gnomAD v4
2g.48755596G>ACA346815567LHCGR,STON1-GTF2A1Lc.76C>T (p.Arg26Cys)
c.3442-20684G>A (n.3442-20684G>A)
 gnomAD v4 COSMIC
2g.48755596G>CCA346815568LHCGR,STON1-GTF2A1Lc.76C>G (p.Arg26Gly)
c.3442-20684G>C (n.3442-20684G>C)
 gnomAD v4
2g.48755596G=CA1248636772LHCGR,STON1-GTF2A1Lc.76C= (p.Arg26=)
c.3442-20684G= (n.3442-20684G=)
2g.48755596G>TCA346815569LHCGR,STON1-GTF2A1Lc.76C>A (p.Arg26Ser)
c.3442-20684G>T (n.3442-20684G>T)
 dbSNP gnomAD v4
2g.48755597C>ACA426095198LHCGR,STON1-GTF2A1Lc.75G>T (p.Leu25=)
c.3442-20683C>A (n.3442-20683C>A)
 gnomAD v4
2g.48755597C>GCA426095200LHCGR,STON1-GTF2A1Lc.75G>C (p.Leu25=)
c.3442-20683C>G (n.3442-20683C>G)
2g.48755597C>TCA426095199LHCGR,STON1-GTF2A1Lc.75G>A (p.Leu25=)
c.3442-20683C>T (n.3442-20683C>T)
2g.48755598delCA2576963765LHCGR,STON1-GTF2A1Lc.74del (p.Leu25ArgfsTer?)
c.3442-20682del (n.3442-20682del)
2g.48755598A=CA1248636773LHCGR,STON1-GTF2A1Lc.74T= (p.Leu25=)
c.3442-20682A= (n.3442-20682A=)
2g.48755598A>CCA47295572LHCGR,STON1-GTF2A1Lc.74T>G (p.Leu25Arg)
c.3442-20682A>C (n.3442-20682A>C)
 dbSNP gnomAD v3 gnomAD v4
2g.48755598A>GCA346815570LHCGR,STON1-GTF2A1Lc.74T>C (p.Leu25Pro)
c.3442-20682A>G (n.3442-20682A>G)
 dbSNP gnomAD v4
2g.48755598A>TCA346815571LHCGR,STON1-GTF2A1Lc.74T>A (p.Leu25Gln)
c.3442-20682A>T (n.3442-20682A>T)
2g.48755599G>ACA426095201LHCGR,STON1-GTF2A1Lc.73C>T (p.Leu25=)
c.3442-20681G>A (n.3442-20681G>A)
2g.48755599G>CCA346815572LHCGR,STON1-GTF2A1Lc.73C>G (p.Leu25Val)
c.3442-20681G>C (n.3442-20681G>C)
2g.48755599G>TCA346815573LHCGR,STON1-GTF2A1Lc.73C>A (p.Leu25Met)
c.3442-20681G>T (n.3442-20681G>T)
 gnomAD v4
2g.48755600C>ACA426095202LHCGR,STON1-GTF2A1Lc.72G>T (p.Ala24=)
c.3442-20680C>A (n.3442-20680C>A)
 gnomAD v4
2g.48755600C>GCA426095203LHCGR,STON1-GTF2A1Lc.72G>C (p.Ala24=)
c.3442-20680C>G (n.3442-20680C>G)
2g.48755600C>TCA426095204LHCGR,STON1-GTF2A1Lc.72G>A (p.Ala24=)
c.3442-20680C>T (n.3442-20680C>T)
 gnomAD v4
2g.48755601G>ACA346815574LHCGR,STON1-GTF2A1Lc.71C>T (p.Ala24Val)
c.3442-20679G>A (n.3442-20679G>A)
 gnomAD v4
2g.48755601G>CCA346815575LHCGR,STON1-GTF2A1Lc.71C>G (p.Ala24Gly)
c.3442-20679G>C (n.3442-20679G>C)
 gnomAD v4
2g.48755601G>TCA346815576LHCGR,STON1-GTF2A1Lc.71C>A (p.Ala24Glu)
c.3442-20679G>T (n.3442-20679G>T)
 gnomAD v4
2g.48755602C>ACA346815577LHCGR,STON1-GTF2A1Lc.70G>T (p.Ala24Ser)
c.3442-20678C>A (n.3442-20678C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.48755602C=CA1248636774LHCGR,STON1-GTF2A1Lc.70G= (p.Ala24=)
c.3442-20678C= (n.3442-20678C=)
2g.48755602C>GCA346815578LHCGR,STON1-GTF2A1Lc.70G>C (p.Ala24Pro)
c.3442-20678C>G (n.3442-20678C>G)
2g.48755602C>TCA346815579LHCGR,STON1-GTF2A1Lc.70G>A (p.Ala24Thr)
c.3442-20678C>T (n.3442-20678C>T)
 gnomAD v4
2g.48755603T>ACA426095205LHCGR,STON1-GTF2A1Lc.69A>T (p.Arg23=)
c.3442-20677T>A (n.3442-20677T>A)
 gnomAD v4
2g.48755603T>CCA1653489LHCGR,STON1-GTF2A1Lc.69A>G (p.Arg23=)
c.3442-20677T>C (n.3442-20677T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48755603T>GCA426095206LHCGR,STON1-GTF2A1Lc.69A>C (p.Arg23=)
c.3442-20677T>G (n.3442-20677T>G)
2g.48755603T=CA1248636775LHCGR,STON1-GTF2A1Lc.69A= (p.Arg23=)
c.3442-20677T= (n.3442-20677T=)
2g.48755604C>ACA346815580LHCGR,STON1-GTF2A1Lc.68G>T (p.Arg23Leu)
c.3442-20676C>A (n.3442-20676C>A)
 gnomAD v4
2g.48755604C>GCA346815581LHCGR,STON1-GTF2A1Lc.68G>C (p.Arg23Pro)
c.3442-20676C>G (n.3442-20676C>G)
 gnomAD v4
2g.48755604C>TCA346815582LHCGR,STON1-GTF2A1Lc.68G>A (p.Arg23Gln)
c.3442-20676C>T (n.3442-20676C>T)
 gnomAD v4
2g.48755606_48755655delCA2740272290LHCGR,STON1-GTF2A1Lc.19_68del (p.Ala7SerfsTer9)
c.3442-20674_3442-20625del (n.3442-20674_3442-20625del)
2g.48755605G>ACA346815583LHCGR,STON1-GTF2A1Lc.67C>T (p.Arg23Ter)
c.3442-20675G>A (n.3442-20675G>A)
 gnomAD v4
2g.48755605G>CCA47295573LHCGR,STON1-GTF2A1Lc.67C>G (p.Arg23Gly)
c.3442-20675G>C (n.3442-20675G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.48755605G=CA1248636776LHCGR,STON1-GTF2A1Lc.67C= (p.Arg23=)
c.3442-20675G= (n.3442-20675G=)
2g.48755605G>TCA426095207LHCGR,STON1-GTF2A1Lc.67C>A (p.Arg23=)
c.3442-20675G>T (n.3442-20675G>T)
 gnomAD v4
2g.48755606_48755626dupCA2658995088LHCGR,STON1-GTF2A1Lc.47_67dup (p.Pro22_Arg23insLeuLeuGlnProProLeuPro)
c.3442-20674_3442-20654dup (n.3442-20674_3442-20654dup)
 gnomAD v4
2g.48755606T>ACA426095210LHCGR,STON1-GTF2A1Lc.66A>T (p.Pro22=)
c.3442-20674T>A (n.3442-20674T>A)
2g.48755606T>CCA426095209LHCGR,STON1-GTF2A1Lc.66A>G (p.Pro22=)
c.3442-20674T>C (n.3442-20674T>C)
 dbSNP
2g.48755606T>GCA426095208LHCGR,STON1-GTF2A1Lc.66A>C (p.Pro22=)
c.3442-20674T>G (n.3442-20674T>G)
2g.48755606T=CA1248636777LHCGR,STON1-GTF2A1Lc.66A= (p.Pro22=)
c.3442-20674T= (n.3442-20674T=)
2g.48755606_48755621delinsTGGCAGCGGCGGCTGCCA1248636778LHCGR,STON1-GTF2A1Lc.51_66delinsGCAGCCGCCGCTGCCA (p.Leu17=)
c.3442-20674_3442-20659delinsTGGCAGCGGCGGCTGC (n.3442-20674_3442-20659delinsTGGCAGCGGCGGCTGC)
2g.48755607G>ACA346815584LHCGR,STON1-GTF2A1Lc.65C>T (p.Pro22Leu)
c.3442-20673G>A (n.3442-20673G>A)
2g.48755607G>CCA346815586LHCGR,STON1-GTF2A1Lc.65C>G (p.Pro22Arg)
c.3442-20673G>C (n.3442-20673G>C)
 gnomAD v4
2g.48755607G>TCA346815585LHCGR,STON1-GTF2A1Lc.65C>A (p.Pro22Gln)
c.3442-20673G>T (n.3442-20673G>T)
 gnomAD v4
2g.48755607_48755621delCA1030381818LHCGR,STON1-GTF2A1Lc.51_65del (p.Gln18_Pro22del)
c.3442-20673_3442-20659del (n.3442-20673_3442-20659del)
 dbSNP gnomAD v3 gnomAD v4
2g.48755608G>ACA346815587LHCGR,STON1-GTF2A1Lc.64C>T (p.Pro22Ser)
c.3442-20672G>A (n.3442-20672G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.48755608G>CCA346815589LHCGR,STON1-GTF2A1Lc.64C>G (p.Pro22Ala)
c.3442-20672G>C (n.3442-20672G>C)
2g.48755608G=CA1248636779LHCGR,STON1-GTF2A1Lc.64C= (p.Pro22=)
c.3442-20672G= (n.3442-20672G=)
2g.48755608G>TCA346815588LHCGR,STON1-GTF2A1Lc.64C>A (p.Pro22Thr)
c.3442-20672G>T (n.3442-20672G>T)
 gnomAD v4
2g.48755613_48755633dupCA2658995089LHCGR,STON1-GTF2A1Lc.44_64dup (p.Leu21_Pro22insLeuLeuLeuGlnProProLeu)
c.3442-20667_3442-20647dup (n.3442-20667_3442-20647dup)
 gnomAD v4
2g.48755609C>ACA426095211LHCGR,STON1-GTF2A1Lc.63G>T (p.Leu21=)
c.3442-20671C>A (n.3442-20671C>A)
 gnomAD v4
2g.48755609C=CA1248636780LHCGR,STON1-GTF2A1Lc.63G= (p.Leu21=)
c.3442-20671C= (n.3442-20671C=)
2g.48755609C>GCA426095212LHCGR,STON1-GTF2A1Lc.63G>C (p.Leu21=)
c.3442-20671C>G (n.3442-20671C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.48755609C>TCA1653490LHCGR,STON1-GTF2A1Lc.63G>A (p.Leu21=)
c.3442-20671C>T (n.3442-20671C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48755610A>CCA346815590LHCGR,STON1-GTF2A1Lc.62T>G (p.Leu21Arg)
c.3442-20670A>C (n.3442-20670A>C)
2g.48755610A>GCA346815591LHCGR,STON1-GTF2A1Lc.62T>C (p.Leu21Pro)
c.3442-20670A>G (n.3442-20670A>G)
2g.48755610A>TCA346815592LHCGR,STON1-GTF2A1Lc.62T>A (p.Leu21Gln)
c.3442-20670A>T (n.3442-20670A>T)
2g.48755611G>ACA426095213LHCGR,STON1-GTF2A1Lc.61C>T (p.Leu21=)
c.3442-20669G>A (n.3442-20669G>A)
2g.48755611G>CCA346815593LHCGR,STON1-GTF2A1Lc.61C>G (p.Leu21Val)
c.3442-20669G>C (n.3442-20669G>C)
2g.48755611G>TCA346815594LHCGR,STON1-GTF2A1Lc.61C>A (p.Leu21Met)
c.3442-20669G>T (n.3442-20669G>T)
2g.48755616_48755618delCA2658995091LHCGR,STON1-GTF2A1Lc.59_61del (p.Pro20del)
c.3442-20664_3442-20662del (n.3442-20664_3442-20662del)
 gnomAD v4
2g.48755613_48755621dupCA2658995090LHCGR,STON1-GTF2A1Lc.53_61dup (p.Pro20_Leu21insGlnProPro)
c.3442-20667_3442-20659dup (n.3442-20667_3442-20659dup)
 gnomAD v4
2g.48755611_48755638delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTTCA1248636781LHCGR,STON1-GTF2A1Lc.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (p.Lys12=)
c.3442-20669_3442-20642delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT (n.3442-20669_3442-20642delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT)
2g.48755612C>ACA426095214LHCGR,STON1-GTF2A1Lc.60G>T (p.Pro20=)
c.3442-20668C>A (n.3442-20668C>A)
2g.48755612C>GCA426095215LHCGR,STON1-GTF2A1Lc.60G>C (p.Pro20=)
c.3442-20668C>G (n.3442-20668C>G)
2g.48755612C>TCA426095216LHCGR,STON1-GTF2A1Lc.60G>A (p.Pro20=)
c.3442-20668C>T (n.3442-20668C>T)
 gnomAD v4
2g.48755613_48755639dupCA1248636782LHCGR,STON1-GTF2A1Lc.34_60dup (p.Pro20_Leu21insLysLeuLeuLeuLeuLeuGlnProPro)
c.3442-20667_3442-20641dup (n.3442-20667_3442-20641dup)
 dbSNP gnomAD v4
2g.48755613_48755639delCA532559288LHCGR,STON1-GTF2A1Lc.34_60del (p.Lys12_Pro20del)
c.3442-20667_3442-20641del (n.3442-20667_3442-20641del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755613G>ACA346815595LHCGR,STON1-GTF2A1Lc.59C>T (p.Pro20Leu)
c.3442-20667G>A (n.3442-20667G>A)
 dbSNP gnomAD v4
2g.48755613G>CCA346815596LHCGR,STON1-GTF2A1Lc.59C>G (p.Pro20Arg)
c.3442-20667G>C (n.3442-20667G>C)
2g.48755613G=CA1248636783LHCGR,STON1-GTF2A1Lc.59C= (p.Pro20=)
c.3442-20667G= (n.3442-20667G=)
2g.48755613G>TCA346815597LHCGR,STON1-GTF2A1Lc.59C>A (p.Pro20Gln)
c.3442-20667G>T (n.3442-20667G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.48755613_48755631delinsGGCGGCTGCAGCAGCAGCACA1248636784LHCGR,STON1-GTF2A1Lc.41_59delinsTGCTGCTGCTGCAGCCGCC (p.Leu14=)
c.3442-20667_3442-20649delinsGGCGGCTGCAGCAGCAGCA (n.3442-20667_3442-20649delinsGGCGGCTGCAGCAGCAGCA)
2g.48755613_48755614insACGGCTCA532559290LHCGR,STON1-GTF2A1Lc.58_59insAGCCGT (p.Pro20delinsGlnProSer)
c.3442-20667_3442-20666insACGGCT (n.3442-20667_3442-20666insACGGCT)
 dbSNP gnomAD v2 gnomAD v4
2g.48755614G>ACA346815598LHCGR,STON1-GTF2A1Lc.58C>T (p.Pro20Ser)
c.3442-20666G>A (n.3442-20666G>A)
2g.48755614G>CCA346815599LHCGR,STON1-GTF2A1Lc.58C>G (p.Pro20Ala)
c.3442-20666G>C (n.3442-20666G>C)
2g.48755614G>TCA346815600LHCGR,STON1-GTF2A1Lc.58C>A (p.Pro20Thr)
c.3442-20666G>T (n.3442-20666G>T)
 gnomAD v4
2g.48755616_48755633delCA532559289LHCGR,STON1-GTF2A1Lc.41_58del (p.Leu14_Pro19del)
c.3442-20664_3442-20647del (n.3442-20664_3442-20647del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755616_48755642dupCA532559291LHCGR,STON1-GTF2A1Lc.32_58dup (p.Pro19_Pro20insLeuLysLeuLeuLeuLeuLeuGlnPro)
c.3442-20664_3442-20638dup (n.3442-20664_3442-20638dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755616_48755642delCA2658995093LHCGR,STON1-GTF2A1Lc.32_58del (p.Leu11_Pro19del)
c.3442-20664_3442-20638del (n.3442-20664_3442-20638del)
 gnomAD v4
2g.48755616_48755648dupCA2658995092LHCGR,STON1-GTF2A1Lc.26_58dup (p.Pro19_Pro20insGlnLeuLeuLysLeuLeuLeuLeuLeuGlnPro)
c.3442-20664_3442-20632dup (n.3442-20664_3442-20632dup)
 gnomAD v4
2g.48755615C>ACA426095217LHCGR,STON1-GTF2A1Lc.57G>T (p.Pro19=)
c.3442-20665C>A (n.3442-20665C>A)
2g.48755615C>GCA426095218LHCGR,STON1-GTF2A1Lc.57G>C (p.Pro19=)
c.3442-20665C>G (n.3442-20665C>G)
2g.48755615C>TCA426095219LHCGR,STON1-GTF2A1Lc.57G>A (p.Pro19=)
c.3442-20665C>T (n.3442-20665C>T)
 gnomAD v4
2g.48755615_48755616insTCA2658995094LHCGR,STON1-GTF2A1Lc.56_57insA (p.Pro20AlafsTer13)
c.3442-20665_3442-20664insT (n.3442-20665_3442-20664insT)
 gnomAD v4
2g.48755616G>ACA47295574LHCGR,STON1-GTF2A1Lc.56C>T (p.Pro19Leu)
c.3442-20664G>A (n.3442-20664G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.48755616G>CCA346815602LHCGR,STON1-GTF2A1Lc.56C>G (p.Pro19Arg)
c.3442-20664G>C (n.3442-20664G>C)
2g.48755616G=CA1248636785LHCGR,STON1-GTF2A1Lc.56C= (p.Pro19=)
c.3442-20664G= (n.3442-20664G=)
2g.48755616G>TCA346815601LHCGR,STON1-GTF2A1Lc.56C>A (p.Pro19Gln)
c.3442-20664G>T (n.3442-20664G>T)
 dbSNP gnomAD v2 gnomAD v4
2g.48755616_48755617delCA2658995095LHCGR,STON1-GTF2A1Lc.55_56del (p.Pro19AlafsTer13)
c.3442-20664_3442-20663del (n.3442-20664_3442-20663del)
 gnomAD v4
2g.48755616_48755622delinsGGCTGCACA2742038435LHCGR,STON1-GTF2A1Lc.50_56delinsTGCAGCC (p.Leu17=)
c.3442-20664_3442-20658delinsGGCTGCA (n.3442-20664_3442-20658delinsGGCTGCA)
2g.48755616_48755617insACTGCACA2658995100LHCGR,STON1-GTF2A1Lc.55_56insTGCAGT (p.Pro19delinsLeuGlnSer)
c.3442-20664_3442-20663insACTGCA (n.3442-20664_3442-20663insACTGCA)
 gnomAD v4
2g.48755617G>ACA346815603LHCGR,STON1-GTF2A1Lc.55C>T (p.Pro19Ser)
c.3442-20663G>A (n.3442-20663G>A)
 COSMIC
2g.48755617G>CCA346815604LHCGR,STON1-GTF2A1Lc.55C>G (p.Pro19Ala)
c.3442-20663G>C (n.3442-20663G>C)
 gnomAD v4
2g.48755617G=CA1248636786LHCGR,STON1-GTF2A1Lc.55C= (p.Pro19=)
c.3442-20663G= (n.3442-20663G=)
2g.48755617G>TCA346815605LHCGR,STON1-GTF2A1Lc.55C>A (p.Pro19Thr)
c.3442-20663G>T (n.3442-20663G>T)
 gnomAD v4
2g.48755617_48755618insATGCAGCA2749837903LHCGR,STON1-GTF2A1Lc.55_56insTGCATC (p.Gln18_Pro19insLeuHis)
c.3442-20663_3442-20662insATGCAG (n.3442-20663_3442-20662insATGCAG)
2g.48755618_48755619insGGCAGCCA2586969547LHCGR,STON1-GTF2A1Lc.55_56insTGCCGC (p.Gln18_Pro19insLeuPro)
c.3442-20662_3442-20661insGGCAGC (n.3442-20662_3442-20661insGGCAGC)
2g.48755621_48755622insGGCTGCAGCTGCCA769618265LHCGR,STON1-GTF2A1Lc.55_56insTGCAGCCGCAGC (p.Gln18_Pro19insLeuGlnProGln)
c.3442-20659_3442-20658insGGCTGCAGCTGC (n.3442-20659_3442-20658insGGCTGCAGCTGC)
 dbSNP gnomAD v4
2g.48755624_48755625insTGCAGCGGCGGCTGCAGCTGCAGCCA769618269LHCGR,STON1-GTF2A1Lc.55_56insTGCAGCCGCCGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuGlnLeuGln)
c.3442-20656_3442-20655insTGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCGGCGGCTGCAGCTGCAGC)
 dbSNP gnomAD v4
2g.48755624_48755625insTGCAGCAGCAGCGGCTGCAGCTGCAGCCA1030381844LHCGR,STON1-GTF2A1Lc.55_56insTGCAGCCGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProLeuLeuLeuGlnLeuGln)
c.3442-20656_3442-20655insTGCAGCAGCAGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCGGCTGCAGCTGCAGC)
 dbSNP gnomAD v3 gnomAD v4
2g.48755624_48755625insTGCAGCAGCGGCGGCTGCAGCTGCAGCCA2658995096LHCGR,STON1-GTF2A1Lc.55_56insTGCAGCCGCCGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuLeuGlnLeuGln)
c.3442-20656_3442-20655insTGCAGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCGGCGGCTGCAGCTGCAGC)
 gnomAD v4
2g.48755624_48755625insTGCAGCAGCAGCAGCGGCTGCAGCTGCAGCCA2749837902LHCGR,STON1-GTF2A1Lc.55_56insTGCAGCCGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProLeuLeuLeuLeuGlnLeuGln)
c.3442-20656_3442-20655insTGCAGCAGCAGCAGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCGGCTGCAGCTGCAGC)
2g.48755624_48755625insTGCAGCAGCAGCGGCGGCTGCAGCTGCAGCCA1653492LHCGR,STON1-GTF2A1Lc.55_56insTGCAGCCGCCGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuLeuLeuGlnLeuGln)
c.3442-20656_3442-20655insTGCAGCAGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCGGCGGCTGCAGCTGCAGC)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.48755624_48755625insTGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGCCA532559292LHCGR,STON1-GTF2A1Lc.55_56insTGCAGCCGCCGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuLeuLeuLeuGlnLeuGln)
c.3442-20656_3442-20655insTGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGCCA532559293LHCGR,STON1-GTF2A1Lc.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln)
c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755624_48755625insTGCAGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGCCA2658995099LHCGR,STON1-GTF2A1Lc.55_56insTGCAGCCGCCGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuLeuLeuLeuLeuGlnLeuGln)
c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC)
 gnomAD v4
2g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGTAGCTGCAGCCA2658995098LHCGR,STON1-GTF2A1Lc.55_56insTACAGCTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln)
c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGTAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGTAGCTGCAGC)
 gnomAD v4
2g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGCCA2658995097LHCGR,STON1-GTF2A1Lc.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeuLeuGlnLeuGln)
c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC)
 gnomAD v4
2g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGCCA1030381847LHCGR,STON1-GTF2A1Lc.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln)
c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC)
 dbSNP gnomAD v3 gnomAD v4
2g.48755619_48755624dupCA1653491LHCGR,STON1-GTF2A1Lc.50_55dup (p.Gln18_Pro19insLeuGln)
c.3442-20661_3442-20656dup (n.3442-20661_3442-20656dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.48755619_48755624delCA2699074169LHCGR,STON1-GTF2A1Lc.50_55del (p.Leu17_Gln18del)
c.3442-20661_3442-20656del (n.3442-20661_3442-20656del)
 dbSNP
2g.48755619_48755627dupCA1248636787LHCGR,STON1-GTF2A1Lc.47_55dup (p.Gln18_Pro19insLeuLeuGln)
c.3442-20661_3442-20653dup (n.3442-20661_3442-20653dup)
 dbSNP
2g.48755625_48755651dupCA1030381849LHCGR,STON1-GTF2A1Lc.29_55dup (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGln)
c.3442-20655_3442-20629dup (n.3442-20655_3442-20629dup)
 dbSNP gnomAD v3 gnomAD v4
2g.48755625_48755651delCA2586969548LHCGR,STON1-GTF2A1Lc.29_55del (p.Leu10_Gln18del)
c.3442-20655_3442-20629del (n.3442-20655_3442-20629del)
 gnomAD v4
2g.48755617_48755618insGCTGCACA47295575LHCGR,STON1-GTF2A1Lc.54_55insTGCAGC (p.Gln18_Pro19insCysSer)
c.3442-20663_3442-20662insGCTGCA (n.3442-20663_3442-20662insGCTGCA)
 dbSNP
2g.48755618C>ACA346815606LHCGR,STON1-GTF2A1Lc.54G>T (p.Gln18His)
c.3442-20662C>A (n.3442-20662C>A)
 gnomAD v4
2g.48755618C=CA1248636788LHCGR,STON1-GTF2A1Lc.54G= (p.Gln18=)
c.3442-20662C= (n.3442-20662C=)
2g.48755618C>GCA346815607LHCGR,STON1-GTF2A1Lc.54G>C (p.Gln18His)
c.3442-20662C>G (n.3442-20662C>G)
 dbSNP
2g.48755618C>TCA1653493LHCGR,STON1-GTF2A1Lc.54G>A (p.Gln18=)
c.3442-20662C>T (n.3442-20662C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48755622_48755623insTCTGCACA769618283LHCGR,STON1-GTF2A1Lc.54_55insATGCAG (p.Gln18_Pro19insMetGln)
c.3442-20658_3442-20657insTCTGCA (n.3442-20658_3442-20657insTCTGCA)
 dbSNP
2g.48755619T>ACA346815610LHCGR,STON1-GTF2A1Lc.53A>T (p.Gln18Leu)
c.3442-20661T>A (n.3442-20661T>A)
 gnomAD v4
2g.48755619T>CCA346815609LHCGR,STON1-GTF2A1Lc.53A>G (p.Gln18Arg)
c.3442-20661T>C (n.3442-20661T>C)
2g.48755619T>GCA346815608LHCGR,STON1-GTF2A1Lc.53A>C (p.Gln18Pro)
c.3442-20661T>G (n.3442-20661T>G)
2g.48755619T=CA1248636789LHCGR,STON1-GTF2A1Lc.53A= (p.Gln18=)
c.3442-20661T= (n.3442-20661T=)
2g.48755619_48755622delinsTGCACA1248636790LHCGR,STON1-GTF2A1Lc.50_53delinsTGCA (p.Leu17=)
c.3442-20661_3442-20658delinsTGCA (n.3442-20661_3442-20658delinsTGCA)
2g.48755623_48755624insATGCAGCA2699222466LHCGR,STON1-GTF2A1Lc.53_54insTCTGCA (p.Leu17_Gln18insHisLeu)
c.3442-20657_3442-20656insATGCAG (n.3442-20657_3442-20656insATGCAG)
 dbSNP
2g.48755619_48755640delinsTGCAGCAGCAGCAGCAGCTTCACA1248636791LHCGR,STON1-GTF2A1Lc.32_53delinsTGAAGCTGCTGCTGCTGCTGCA (p.Leu11=)
c.3442-20661_3442-20640delinsTGCAGCAGCAGCAGCAGCTTCA (n.3442-20661_3442-20640delinsTGCAGCAGCAGCAGCAGCTTCA)
2g.48755619_48755620insTGCAGCCA47295576LHCGR,STON1-GTF2A1Lc.52_53insGCTGCA (p.Gln18delinsArgCysLys)
c.3442-20661_3442-20660insTGCAGC (n.3442-20661_3442-20660insTGCAGC)
 dbSNP
2g.48755620G>ACA346815613LHCGR,STON1-GTF2A1Lc.52C>T (p.Gln18Ter)
c.3442-20660G>A (n.3442-20660G>A)
 gnomAD v4
2g.48755620G>CCA346815612LHCGR,STON1-GTF2A1Lc.52C>G (p.Gln18Glu)
c.3442-20660G>C (n.3442-20660G>C)
2g.48755620G=CA1248636792LHCGR,STON1-GTF2A1Lc.52C= (p.Gln18=)
c.3442-20660G= (n.3442-20660G=)
2g.48755620G>TCA346815611LHCGR,STON1-GTF2A1Lc.52C>A (p.Gln18Lys)
c.3442-20660G>T (n.3442-20660G>T)
2g.48755624_48755625insGGCAGCCA2658995103LHCGR,STON1-GTF2A1Lc.52_53insCGCTGC (p.Leu17_Gln18insProLeu)
c.3442-20656_3442-20655insGGCAGC (n.3442-20656_3442-20655insGGCAGC)
 gnomAD v4
2g.48755624_48755625insTGCAGCAGCCA1248636793LHCGR,STON1-GTF2A1Lc.52_53insTGCAGCTGC (p.Leu17_Gln18insLeuGlnLeu)
c.3442-20656_3442-20655insTGCAGCAGC (n.3442-20656_3442-20655insTGCAGCAGC)
 dbSNP gnomAD v4
2g.48755624_48755625insTGCAGCAGCAGCCA2658995105LHCGR,STON1-GTF2A1Lc.52_53insTGCTGCAGCTGC (p.Leu17_Gln18insLeuLeuGlnLeu)
c.3442-20656_3442-20655insTGCAGCAGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGC)
 gnomAD v4
2g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCAGCAGCCA2658995102LHCGR,STON1-GTF2A1Lc.52_53insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGC (p.Leu17_Gln18insLeuLeuLysLeuLeuLeuLeuLeuGlnLeu)
c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCAGC)
 gnomAD v4
2g.48755634_48755636dupCA1653495LHCGR,STON1-GTF2A1Lc.50_52dup (p.Leu17_Gln18insLeu)
c.3442-20646_3442-20644dup (n.3442-20646_3442-20644dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48755631_48755636dupCA532559294LHCGR,STON1-GTF2A1Lc.47_52dup (p.Leu17_Gln18insLeuLeu)
c.3442-20649_3442-20644dup (n.3442-20649_3442-20644dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755628_48755636dupCA2658995104LHCGR,STON1-GTF2A1Lc.44_52dup (p.Leu17_Gln18insLeuLeuLeu)
c.3442-20652_3442-20644dup (n.3442-20652_3442-20644dup)
 gnomAD v4
2g.48755634_48755636delCA1653494LHCGR,STON1-GTF2A1Lc.50_52del (p.Leu17del)
c.3442-20646_3442-20644del (n.3442-20646_3442-20644del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48755625_48755636delCA2658995101LHCGR,STON1-GTF2A1Lc.41_52del (p.Leu14_Leu17del)
c.3442-20655_3442-20644del (n.3442-20655_3442-20644del)
 gnomAD v4
2g.48755625_48755645delCA1653496LHCGR,STON1-GTF2A1Lc.32_52del (p.Leu11_Leu17del)
c.3442-20655_3442-20635del (n.3442-20655_3442-20635del)
 dbSNP ExAC gnomAD v4
2g.48755621C>ACA426095222LHCGR,STON1-GTF2A1Lc.51G>T (p.Leu17=)
c.3442-20659C>A (n.3442-20659C>A)
2g.48755621C>GCA426095221LHCGR,STON1-GTF2A1Lc.51G>C (p.Leu17=)
c.3442-20659C>G (n.3442-20659C>G)
2g.48755621C>TCA426095220LHCGR,STON1-GTF2A1Lc.51G>A (p.Leu17=)
c.3442-20659C>T (n.3442-20659C>T)
2g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCCA1030381871LHCGR,STON1-GTF2A1Lc.51_52insAAGCTGCTGCTGCTGCTGCAGCTG (p.Leu17_Gln18insLysLeuLeuLeuLeuLeuGlnLeu)
c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGC)
 dbSNP gnomAD v3 gnomAD v4
2g.48755628_48755645dupCA769618304LHCGR,STON1-GTF2A1Lc.34_51dup (p.Leu17_Gln18insLysLeuLeuLeuLeuLeu)
c.3442-20652_3442-20635dup (n.3442-20652_3442-20635dup)
 dbSNP gnomAD v3 gnomAD v4
2g.48755628_48755645delCA2573134942LHCGR,STON1-GTF2A1Lc.34_51del (p.Lys12_Leu17del)
c.3442-20652_3442-20635del (n.3442-20652_3442-20635del)
 ClinVar dbSNP
2g.48755622A=CA1248636794LHCGR,STON1-GTF2A1Lc.50T= (p.Leu17=)
c.3442-20658A= (n.3442-20658A=)
2g.48755622A>CCA346815614LHCGR,STON1-GTF2A1Lc.50T>G (p.Leu17Arg)
c.3442-20658A>C (n.3442-20658A>C)
 dbSNP gnomAD v2 gnomAD v4
2g.48755622A>GCA346815615LHCGR,STON1-GTF2A1Lc.50T>C (p.Leu17Pro)
c.3442-20658A>G (n.3442-20658A>G)
2g.48755622A>TCA346815616LHCGR,STON1-GTF2A1Lc.50T>A (p.Leu17Gln)
c.3442-20658A>T (n.3442-20658A>T)
 dbSNP gnomAD v4
2g.48755623G>ACA426095224LHCGR,STON1-GTF2A1Lc.49C>T (p.Leu17=)
c.3442-20657G>A (n.3442-20657G>A)
 gnomAD v4
2g.48755623G>CCA346815617LHCGR,STON1-GTF2A1Lc.49C>G (p.Leu17Val)
c.3442-20657G>C (n.3442-20657G>C)
 gnomAD v4
2g.48755623G=CA1248636795LHCGR,STON1-GTF2A1Lc.49C= (p.Leu17=)
c.3442-20657G= (n.3442-20657G=)
2g.48755623G>TCA346815618LHCGR,STON1-GTF2A1Lc.49C>A (p.Leu17Met)
c.3442-20657G>T (n.3442-20657G>T)
2g.48755624_48755625insTGCCA426095223LHCGR,STON1-GTF2A1Lc.49_50insAGC (p.Leu16_Leu17insGln)
c.3442-20656_3442-20655insTGC (n.3442-20656_3442-20655insTGC)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755624_48755625insTGCTGCCA2699099416LHCGR,STON1-GTF2A1Lc.49_50insAGCAGC (p.Leu16_Leu17insGlnGln)
c.3442-20656_3442-20655insTGCTGC (n.3442-20656_3442-20655insTGCTGC)
 dbSNP
2g.48755628_48755651dupCA2658995106LHCGR,STON1-GTF2A1Lc.26_49dup (p.Leu16_Leu17insGlnLeuLeuLysLeuLeuLeuLeu)
c.3442-20652_3442-20629dup (n.3442-20652_3442-20629dup)
 gnomAD v4
2g.48755624C>ACA426095227LHCGR,STON1-GTF2A1Lc.48G>T (p.Leu16=)
c.3442-20656C>A (n.3442-20656C>A)
 dbSNP gnomAD v2
2g.48755624C=CA1248636796LHCGR,STON1-GTF2A1Lc.48G= (p.Leu16=)
c.3442-20656C= (n.3442-20656C=)
2g.48755624C>GCA426095226LHCGR,STON1-GTF2A1Lc.48G>C (p.Leu16=)
c.3442-20656C>G (n.3442-20656C>G)
2g.48755624C>TCA426095225LHCGR,STON1-GTF2A1Lc.48G>A (p.Leu16=)
c.3442-20656C>T (n.3442-20656C>T)
 gnomAD v4
2g.48755624_48755625insTGCAACCA2658995107LHCGR,STON1-GTF2A1Lc.48_49insTTGCAG (p.Leu16_Leu17insLeuGln)
c.3442-20656_3442-20655insTGCAAC (n.3442-20656_3442-20655insTGCAAC)
 gnomAD v4
2g.48755624_48755625insTGCATCCA1653497LHCGR,STON1-GTF2A1Lc.48_49insATGCAG (p.Leu16_Leu17insMetGln)
c.3442-20656_3442-20655insTGCATC (n.3442-20656_3442-20655insTGCATC)
 dbSNP ExAC
2g.48755631_48755645delCA2576963766LHCGR,STON1-GTF2A1Lc.34_48del (p.Lys12_Leu16del)
c.3442-20649_3442-20635del (n.3442-20649_3442-20635del)
2g.48755624_48755625insTGCAGGCA2658995108LHCGR,STON1-GTF2A1Lc.47_48insCCTGCA (p.Leu16_Leu17insLeuGln)
c.3442-20656_3442-20655insTGCAGG (n.3442-20656_3442-20655insTGCAGG)
 gnomAD v4
2g.48755625A=CA1248636797LHCGR,STON1-GTF2A1Lc.47T= (p.Leu16=)
c.3442-20655A= (n.3442-20655A=)
2g.48755625A>CCA346815619LHCGR,STON1-GTF2A1Lc.47T>G (p.Leu16Arg)
c.3442-20655A>C (n.3442-20655A>C)
2g.48755625A>GCA346815620LHCGR,STON1-GTF2A1Lc.47T>C (p.Leu16Pro)
c.3442-20655A>G (n.3442-20655A>G)
2g.48755625A>TCA1653498LHCGR,STON1-GTF2A1Lc.47T>A (p.Leu16Gln)
c.3442-20655A>T (n.3442-20655A>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48755626G>ACA426095228LHCGR,STON1-GTF2A1Lc.46C>T (p.Leu16=)
c.3442-20654G>A (n.3442-20654G>A)
2g.48755626G>CCA346815621LHCGR,STON1-GTF2A1Lc.46C>G (p.Leu16Val)
c.3442-20654G>C (n.3442-20654G>C)
2g.48755626G>TCA346815622LHCGR,STON1-GTF2A1Lc.46C>A (p.Leu16Met)
c.3442-20654G>T (n.3442-20654G>T)
2g.48755627C>ACA426095231LHCGR,STON1-GTF2A1Lc.45G>T (p.Leu15=)
c.3442-20653C>A (n.3442-20653C>A)
2g.48755627C>GCA426095229LHCGR,STON1-GTF2A1Lc.45G>C (p.Leu15=)
c.3442-20653C>G (n.3442-20653C>G)
2g.48755627C>TCA426095230LHCGR,STON1-GTF2A1Lc.45G>A (p.Leu15=)
c.3442-20653C>T (n.3442-20653C>T)
2g.48755628_48755629insACACA2658995109LHCGR,STON1-GTF2A1Lc.45_46insTTG (p.Leu15_Leu16insLeu)
c.3442-20652_3442-20651insACA (n.3442-20652_3442-20651insACA)
 gnomAD v4
2g.48755628_48755629insTCACA2658995110LHCGR,STON1-GTF2A1Lc.45_46insATG (p.Leu15_Leu16insMet)
c.3442-20652_3442-20651insTCA (n.3442-20652_3442-20651insTCA)
 gnomAD v4
2g.48755628A=CA1248636798LHCGR,STON1-GTF2A1Lc.44T= (p.Leu15=)
c.3442-20652A= (n.3442-20652A=)
2g.48755628A>CCA346815623LHCGR,STON1-GTF2A1Lc.44T>G (p.Leu15Arg)
c.3442-20652A>C (n.3442-20652A>C)
2g.48755628A>GCA346815624LHCGR,STON1-GTF2A1Lc.44T>C (p.Leu15Pro)
c.3442-20652A>G (n.3442-20652A>G)
2g.48755628A>TCA346815625LHCGR,STON1-GTF2A1Lc.44T>A (p.Leu15Gln)
c.3442-20652A>T (n.3442-20652A>T)
2g.48755629G>ACA426095232LHCGR,STON1-GTF2A1Lc.43C>T (p.Leu15=)
c.3442-20651G>A (n.3442-20651G>A)
2g.48755629G>CCA346815626LHCGR,STON1-GTF2A1Lc.43C>G (p.Leu15Val)
c.3442-20651G>C (n.3442-20651G>C)
2g.48755629G=CA1248636799LHCGR,STON1-GTF2A1Lc.43C= (p.Leu15=)
c.3442-20651G= (n.3442-20651G=)
2g.48755629G>TCA346815627LHCGR,STON1-GTF2A1Lc.43C>A (p.Leu15Met)
c.3442-20651G>T (n.3442-20651G>T)
2g.48755634_48755651dupCA532559295LHCGR,STON1-GTF2A1Lc.26_43dup (p.Leu14_Leu15insGlnLeuLeuLysLeuLeu)
c.3442-20646_3442-20629dup (n.3442-20646_3442-20629dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755630C>ACA426095235LHCGR,STON1-GTF2A1Lc.42G>T (p.Leu14=)
c.3442-20650C>A (n.3442-20650C>A)
 gnomAD v4
2g.48755630C=CA1248636800LHCGR,STON1-GTF2A1Lc.42G= (p.Leu14=)
c.3442-20650C= (n.3442-20650C=)
2g.48755630C>GCA426095233LHCGR,STON1-GTF2A1Lc.42G>C (p.Leu14=)
c.3442-20650C>G (n.3442-20650C>G)
 gnomAD v4
2g.48755630C>TCA426095234LHCGR,STON1-GTF2A1Lc.42G>A (p.Leu14=)
c.3442-20650C>T (n.3442-20650C>T)
2g.48755631_48755632insTCACA2658995111LHCGR,STON1-GTF2A1Lc.42_43insATG (p.Leu14_Leu15insMet)
c.3442-20649_3442-20648insTCA (n.3442-20649_3442-20648insTCA)
 gnomAD v4
2g.48755638_48755646dupCA1653499LHCGR,STON1-GTF2A1Lc.34_42dup (p.Leu14_Leu15insLysLeuLeu)
c.3442-20642_3442-20634dup (n.3442-20642_3442-20634dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.48755631A>CCA346815628LHCGR,STON1-GTF2A1Lc.41T>G (p.Leu14Arg)
c.3442-20649A>C (n.3442-20649A>C)
2g.48755631A>GCA346815629LHCGR,STON1-GTF2A1Lc.41T>C (p.Leu14Pro)
c.3442-20649A>G (n.3442-20649A>G)
2g.48755631A>TCA346815630LHCGR,STON1-GTF2A1Lc.41T>A (p.Leu14Gln)
c.3442-20649A>T (n.3442-20649A>T)
2g.48755632_48755633insAAGCA532559296LHCGR,STON1-GTF2A1Lc.41_42insTCT (p.Leu14_Leu15insLeu)
c.3442-20648_3442-20647insAAG (n.3442-20648_3442-20647insAAG)
 dbSNP gnomAD v2 gnomAD v4
2g.48755632G>ACA426095236LHCGR,STON1-GTF2A1Lc.40C>T (p.Leu14=)
c.3442-20648G>A (n.3442-20648G>A)
 dbSNP gnomAD v4
2g.48755632G>CCA346815632LHCGR,STON1-GTF2A1Lc.40C>G (p.Leu14Val)
c.3442-20648G>C (n.3442-20648G>C)
2g.48755632G=CA1248636801LHCGR,STON1-GTF2A1Lc.40C= (p.Leu14=)
c.3442-20648G= (n.3442-20648G=)
2g.48755632G>TCA346815631LHCGR,STON1-GTF2A1Lc.40C>A (p.Leu14Met)
c.3442-20648G>T (n.3442-20648G>T)
2g.48755636_48755637insGGCGGCTGCAGCCA2658995112LHCGR,STON1-GTF2A1Lc.40_41insAGCCGCCGCTGC (p.Leu13_Leu14insGlnProProLeu)
c.3442-20644_3442-20643insGGCGGCTGCAGC (n.3442-20644_3442-20643insGGCGGCTGCAGC)
 gnomAD v4
2g.48755637_48755651delCA2576963767LHCGR,STON1-GTF2A1Lc.26_40del (p.Gln9_Leu13del)
c.3442-20643_3442-20629del (n.3442-20643_3442-20629del)
2g.48755633C>ACA426095238LHCGR,STON1-GTF2A1Lc.39G>T (p.Leu13=)
c.3442-20647C>A (n.3442-20647C>A)
 gnomAD v4
2g.48755633C=CA1248636802LHCGR,STON1-GTF2A1Lc.39G= (p.Leu13=)
c.3442-20647C= (n.3442-20647C=)
2g.48755633C>GCA426095237LHCGR,STON1-GTF2A1Lc.39G>C (p.Leu13=)
c.3442-20647C>G (n.3442-20647C>G)
2g.48755633C>TCA426095239LHCGR,STON1-GTF2A1Lc.39G>A (p.Leu13=)
c.3442-20647C>T (n.3442-20647C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.48755634A>CCA346815633LHCGR,STON1-GTF2A1Lc.38T>G (p.Leu13Arg)
c.3442-20646A>C (n.3442-20646A>C)
2g.48755634A>GCA346815635LHCGR,STON1-GTF2A1Lc.38T>C (p.Leu13Pro)
c.3442-20646A>G (n.3442-20646A>G)
2g.48755634A>TCA346815634LHCGR,STON1-GTF2A1Lc.38T>A (p.Leu13Gln)
c.3442-20646A>T (n.3442-20646A>T)
2g.48755635_48755636insAAGCA2658995113LHCGR,STON1-GTF2A1Lc.38_39insTCT (p.Leu13_Leu14insLeu)
c.3442-20645_3442-20644insAAG (n.3442-20645_3442-20644insAAG)
 gnomAD v4
2g.48755635_48755636insTAGCA1030381877LHCGR,STON1-GTF2A1Lc.38_39insACT (p.Leu13_Leu14insLeu)
c.3442-20645_3442-20644insTAG (n.3442-20645_3442-20644insTAG)
 gnomAD v3 gnomAD v4
2g.48755635G>ACA426095240LHCGR,STON1-GTF2A1Lc.37C>T (p.Leu13=)
c.3442-20645G>A (n.3442-20645G>A)
2g.48755635G>CCA346815636LHCGR,STON1-GTF2A1Lc.37C>G (p.Leu13Val)
c.3442-20645G>C (n.3442-20645G>C)
2g.48755635G>TCA346815637LHCGR,STON1-GTF2A1Lc.37C>A (p.Leu13Met)
c.3442-20645G>T (n.3442-20645G>T)
2g.48755636_48755637insGGCGGCCA2658995114LHCGR,STON1-GTF2A1Lc.37_38insCGCCGC (p.Lys12_Leu13insProPro)
c.3442-20644_3442-20643insGGCGGC (n.3442-20644_3442-20643insGGCGGC)
 gnomAD v4
2g.48755635_48755638delinsGCTTCA1248636803LHCGR,STON1-GTF2A1Lc.34_37delinsAAGC (p.Lys12=)
c.3442-20645_3442-20642delinsGCTT (n.3442-20645_3442-20642delinsGCTT)
2g.48755636C>ACA346815638LHCGR,STON1-GTF2A1Lc.36G>T (p.Lys12Asn)
c.3442-20644C>A (n.3442-20644C>A)
 dbSNP
2g.48755636C=CA1248636804LHCGR,STON1-GTF2A1Lc.36G= (p.Lys12=)
c.3442-20644C= (n.3442-20644C=)
2g.48755636C>GCA346815639LHCGR,STON1-GTF2A1Lc.36G>C (p.Lys12Asn)
c.3442-20644C>G (n.3442-20644C>G)
2g.48755636C>TCA426095241LHCGR,STON1-GTF2A1Lc.36G>A (p.Lys12=)
c.3442-20644C>T (n.3442-20644C>T)
2g.48755636_48755637insATCCA2658995115LHCGR,STON1-GTF2A1Lc.36_37insATG (p.Lys12_Leu13insMet)
c.3442-20644_3442-20643insATC (n.3442-20644_3442-20643insATC)
 gnomAD v4
2g.48755637_48755639delCA47295577LHCGR,STON1-GTF2A1Lc.34_36del (p.Lys12del)
c.3442-20643_3442-20641del (n.3442-20643_3442-20641del)
 dbSNP gnomAD v2 gnomAD v4
2g.48755637T>ACA346815640LHCGR,STON1-GTF2A1Lc.35A>T (p.Lys12Met)
c.3442-20643T>A (n.3442-20643T>A)
 gnomAD v4
2g.48755637T>CCA346815641LHCGR,STON1-GTF2A1Lc.35A>G (p.Lys12Arg)
c.3442-20643T>C (n.3442-20643T>C)
2g.48755637T>GCA346815642LHCGR,STON1-GTF2A1Lc.35A>C (p.Lys12Thr)
c.3442-20643T>G (n.3442-20643T>G)
2g.48755637_48755638insGTCA2573051987LHCGR,STON1-GTF2A1Lc.35_36insCA (p.Lys12AsnfsTer?)
c.3442-20643_3442-20642insGT (n.3442-20643_3442-20642insGT)
 ClinVar dbSNP
2g.48755638T>ACA346815643LHCGR,STON1-GTF2A1Lc.34A>T (p.Lys12Ter)
c.3442-20642T>A (n.3442-20642T>A)
2g.48755638T>CCA346815644LHCGR,STON1-GTF2A1Lc.34A>G (p.Lys12Glu)
c.3442-20642T>C (n.3442-20642T>C)
2g.48755638T>GCA346815645LHCGR,STON1-GTF2A1Lc.34A>C (p.Lys12Gln)
c.3442-20642T>G (n.3442-20642T>G)
 gnomAD v4
2g.48755638_48755640delCA2658995116LHCGR,STON1-GTF2A1Lc.32_34del (p.Leu11_Lys12delinsGln)
c.3442-20642_3442-20640del (n.3442-20642_3442-20640del)
 gnomAD v4

Number of alleles fetched