Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48755507T>CCA2586969545LHCGR,STON1-GTF2A1Lc.161+4A>G (n.161+4A>G)
c.3442-20773T>C (n.3442-20773T>C)
c.59+4A>G (n.59+4A>G)
2g.48755508C>ACA2658995080LHCGR,STON1-GTF2A1Lc.161+3G>T (n.161+3G>T)
c.3442-20772C>A (n.3442-20772C>A)
c.59+3G>T (n.59+3G>T)
 gnomAD v4
2g.48755508C=CA1248636716LHCGR,STON1-GTF2A1Lc.161+3G= (n.161+3G=)
c.3442-20772C= (n.3442-20772C=)
c.59+3G= (n.59+3G=)
2g.48755508C>GCA1248636717LHCGR,STON1-GTF2A1Lc.161+3G>C (n.161+3G>C)
c.3442-20772C>G (n.3442-20772C>G)
c.59+3G>C (n.59+3G>C)
 dbSNP
2g.48755509A>CCA346815385LHCGR,STON1-GTF2A1Lc.161+2T>G (n.161+2T>G)
c.3442-20771A>C (n.3442-20771A>C)
c.59+2T>G (n.59+2T>G)
2g.48755509A>GCA346815386LHCGR,STON1-GTF2A1Lc.161+2T>C (n.161+2T>C)
c.3442-20771A>G (n.3442-20771A>G)
c.59+2T>C (n.59+2T>C)
 gnomAD v4
2g.48755509A>TCA346815387LHCGR,STON1-GTF2A1Lc.161+2T>A (n.161+2T>A)
c.3442-20771A>T (n.3442-20771A>T)
c.59+2T>A (n.59+2T>A)
2g.48755510C>ACA346815388LHCGR,STON1-GTF2A1Lc.161+1G>T (n.161+1G>T)
c.3442-20770C>A (n.3442-20770C>A)
c.59+1G>T (n.59+1G>T)
 gnomAD v4
2g.48755510C>GCA346815390LHCGR,STON1-GTF2A1Lc.161+1G>C (n.161+1G>C)
c.3442-20770C>G (n.3442-20770C>G)
c.59+1G>C (n.59+1G>C)
 gnomAD v4
2g.48755510C>TCA346815389LHCGR,STON1-GTF2A1Lc.161+1G>A (n.161+1G>A)
c.3442-20770C>T (n.3442-20770C>T)
c.59+1G>A (n.59+1G>A)
 ClinVar gnomAD v4
2g.48755511A>CCA346815391LHCGR,STON1-GTF2A1Lc.161T>G (p.Leu54Arg)
c.3442-20769A>C (n.3442-20769A>C)
c.59T>G (p.Leu20Arg)
2g.48755511A>GCA346815392LHCGR,STON1-GTF2A1Lc.161T>C (p.Leu54Pro)
c.3442-20769A>G (n.3442-20769A>G)
c.59T>C (p.Leu20Pro)
2g.48755511A>TCA346815393LHCGR,STON1-GTF2A1Lc.161T>A (p.Leu54Gln)
c.3442-20769A>T (n.3442-20769A>T)
c.59T>A (p.Leu20Gln)
2g.48755511dupCA2658995081LHCGR,STON1-GTF2A1Lc.161dup (p.Ser55IlefsTer19)
c.3442-20769dup (n.3442-20769dup)
c.59dup (p.Ser21IlefsTer19)
 gnomAD v4
2g.48755512G>ACA426095129LHCGR,STON1-GTF2A1Lc.160C>T (p.Leu54=)
c.3442-20768G>A (n.3442-20768G>A)
c.58C>T (p.Leu20=)
 dbSNP gnomAD v4
2g.48755512G>CCA346815394LHCGR,STON1-GTF2A1Lc.160C>G (p.Leu54Val)
c.3442-20768G>C (n.3442-20768G>C)
c.58C>G (p.Leu20Val)
 gnomAD v4
2g.48755512G=CA1248636718LHCGR,STON1-GTF2A1Lc.160C= (p.Leu54=)
c.3442-20768G= (n.3442-20768G=)
c.58C= (p.Leu20=)
2g.48755512G>TCA346815395LHCGR,STON1-GTF2A1Lc.160C>A (p.Leu54Ile)
c.3442-20768G>T (n.3442-20768G>T)
c.58C>A (p.Leu20Ile)
 gnomAD v4
2g.48755513T>ACA426095132LHCGR,STON1-GTF2A1Lc.159A>T (p.Arg53=)
c.3442-20767T>A (n.3442-20767T>A)
c.57A>T (p.Arg19=)
2g.48755513T>CCA426095131LHCGR,STON1-GTF2A1Lc.159A>G (p.Arg53=)
c.3442-20767T>C (n.3442-20767T>C)
c.57A>G (p.Arg19=)
2g.48755513T>GCA426095130LHCGR,STON1-GTF2A1Lc.159A>C (p.Arg53=)
c.3442-20767T>G (n.3442-20767T>G)
c.57A>C (p.Arg19=)
2g.48755513_48755514delinsTCCA1248636719LHCGR,STON1-GTF2A1Lc.158_159delinsGA (p.Arg53=)
c.3442-20767_3442-20766delinsTC (n.3442-20767_3442-20766delinsTC)
c.56_57delinsGA (p.Arg19=)
2g.48755514delCA1248636720LHCGR,STON1-GTF2A1Lc.158del (p.Arg53HisfsTer11)
c.3442-20766del (n.3442-20766del)
c.56del (p.Arg19HisfsTer11)
 dbSNP
2g.48755514C>ACA346815396LHCGR,STON1-GTF2A1Lc.158G>T (p.Arg53Leu)
c.3442-20766C>A (n.3442-20766C>A)
c.56G>T (p.Arg19Leu)
 gnomAD v4
2g.48755514C>GCA346815397LHCGR,STON1-GTF2A1Lc.158G>C (p.Arg53Pro)
c.3442-20766C>G (n.3442-20766C>G)
c.56G>C (p.Arg19Pro)
 gnomAD v4
2g.48755514C>TCA346815398LHCGR,STON1-GTF2A1Lc.158G>A (p.Arg53Gln)
c.3442-20766C>T (n.3442-20766C>T)
c.56G>A (p.Arg19Gln)
 gnomAD v4 COSMIC
2g.48755515G>ACA346815399LHCGR,STON1-GTF2A1Lc.157C>T (p.Arg53Ter)
c.3442-20765G>A (n.3442-20765G>A)
c.55C>T (p.Arg19Ter)
2g.48755515G>CCA346815400LHCGR,STON1-GTF2A1Lc.157C>G (p.Arg53Gly)
c.3442-20765G>C (n.3442-20765G>C)
c.55C>G (p.Arg19Gly)
 gnomAD v4
2g.48755515G=CA1248636721LHCGR,STON1-GTF2A1Lc.157C= (p.Arg53=)
c.3442-20765G= (n.3442-20765G=)
c.55C= (p.Arg19=)
2g.48755515G>TCA426095133LHCGR,STON1-GTF2A1Lc.157C>A (p.Arg53=)
c.3442-20765G>T (n.3442-20765G>T)
c.55C>A (p.Arg19=)
 dbSNP gnomAD v3 gnomAD v4
2g.48755515_48755522delCA2658995082LHCGR,STON1-GTF2A1Lc.150_157del (p.Leu51ThrfsTer20)
c.3442-20765_3442-20758del (n.3442-20765_3442-20758del)
c.48_55del (p.Leu17ThrfsTer20)
 gnomAD v4
2g.48755516A>CCA426095134LHCGR,STON1-GTF2A1Lc.156T>G (p.Thr52=)
c.3442-20764A>C (n.3442-20764A>C)
c.54T>G (p.Thr18=)
2g.48755516A>GCA426095136LHCGR,STON1-GTF2A1Lc.156T>C (p.Thr52=)
c.3442-20764A>G (n.3442-20764A>G)
c.54T>C (p.Thr18=)
2g.48755516A>TCA426095135LHCGR,STON1-GTF2A1Lc.156T>A (p.Thr52=)
c.3442-20764A>T (n.3442-20764A>T)
c.54T>A (p.Thr18=)
2g.48755517G>ACA346815402LHCGR,STON1-GTF2A1Lc.155C>T (p.Thr52Ile)
c.3442-20763G>A (n.3442-20763G>A)
c.53C>T (p.Thr18Ile)
 dbSNP gnomAD v4
2g.48755517G>CCA346815401LHCGR,STON1-GTF2A1Lc.155C>G (p.Thr52Ser)
c.3442-20763G>C (n.3442-20763G>C)
c.53C>G (p.Thr18Ser)
2g.48755517G=CA1248636722LHCGR,STON1-GTF2A1Lc.155C= (p.Thr52=)
c.3442-20763G= (n.3442-20763G=)
c.53C= (p.Thr18=)
2g.48755517G>TCA47295565LHCGR,STON1-GTF2A1Lc.155C>A (p.Thr52Asn)
c.3442-20763G>T (n.3442-20763G>T)
c.53C>A (p.Thr18Asn)
 dbSNP gnomAD v3 gnomAD v4
2g.48755518T>ACA346815403LHCGR,STON1-GTF2A1Lc.154A>T (p.Thr52Ser)
c.3442-20762T>A (n.3442-20762T>A)
c.52A>T (p.Thr18Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.48755518T>CCA346815405LHCGR,STON1-GTF2A1Lc.154A>G (p.Thr52Ala)
c.3442-20762T>C (n.3442-20762T>C)
c.52A>G (p.Thr18Ala)
2g.48755518T>GCA346815404LHCGR,STON1-GTF2A1Lc.154A>C (p.Thr52Pro)
c.3442-20762T>G (n.3442-20762T>G)
c.52A>C (p.Thr18Pro)
2g.48755518T=CA1248636723LHCGR,STON1-GTF2A1Lc.154A= (p.Thr52=)
c.3442-20762T= (n.3442-20762T=)
c.52A= (p.Thr18=)
2g.48755519G>ACA426095137LHCGR,STON1-GTF2A1Lc.153C>T (p.Leu51=)
c.3442-20761G>A (n.3442-20761G>A)
c.51C>T (p.Leu17=)
 gnomAD v4
2g.48755519G>CCA426095138LHCGR,STON1-GTF2A1Lc.153C>G (p.Leu51=)
c.3442-20761G>C (n.3442-20761G>C)
c.51C>G (p.Leu17=)
2g.48755519G>TCA426095139LHCGR,STON1-GTF2A1Lc.153C>A (p.Leu51=)
c.3442-20761G>T (n.3442-20761G>T)
c.51C>A (p.Leu17=)
 gnomAD v4
2g.48755520A>CCA346815406LHCGR,STON1-GTF2A1Lc.152T>G (p.Leu51Arg)
c.3442-20760A>C (n.3442-20760A>C)
c.50T>G (p.Leu17Arg)
2g.48755520A>GCA346815407LHCGR,STON1-GTF2A1Lc.152T>C (p.Leu51Pro)
c.3442-20760A>G (n.3442-20760A>G)
c.50T>C (p.Leu17Pro)
2g.48755520A>TCA346815408LHCGR,STON1-GTF2A1Lc.152T>A (p.Leu51His)
c.3442-20760A>T (n.3442-20760A>T)
c.50T>A (p.Leu17His)
2g.48755521G>ACA346815409LHCGR,STON1-GTF2A1Lc.151C>T (p.Leu51Phe)
c.3442-20759G>A (n.3442-20759G>A)
c.49C>T (p.Leu17Phe)
2g.48755521G>CCA346815410LHCGR,STON1-GTF2A1Lc.151C>G (p.Leu51Val)
c.3442-20759G>C (n.3442-20759G>C)
c.49C>G (p.Leu17Val)
 gnomAD v4
2g.48755521G>TCA346815411LHCGR,STON1-GTF2A1Lc.151C>A (p.Leu51Ile)
c.3442-20759G>T (n.3442-20759G>T)
c.49C>A (p.Leu17Ile)
 gnomAD v4
2g.48755522A>CCA426095140LHCGR,STON1-GTF2A1Lc.150T>G (p.Gly50=)
c.3442-20758A>C (n.3442-20758A>C)
c.48T>G (p.Gly16=)
2g.48755522A>GCA426095141LHCGR,STON1-GTF2A1Lc.150T>C (p.Gly50=)
c.3442-20758A>G (n.3442-20758A>G)
c.48T>C (p.Gly16=)
2g.48755522A>TCA426095142LHCGR,STON1-GTF2A1Lc.150T>A (p.Gly50=)
c.3442-20758A>T (n.3442-20758A>T)
c.48T>A (p.Gly16=)
2g.48755523C>ACA346815412LHCGR,STON1-GTF2A1Lc.149G>T (p.Gly50Val)
c.3442-20757C>A (n.3442-20757C>A)
c.47G>T (p.Gly16Val)
 dbSNP gnomAD v4
2g.48755523C=CA1248636724LHCGR,STON1-GTF2A1Lc.149G= (p.Gly50=)
c.3442-20757C= (n.3442-20757C=)
c.47G= (p.Gly16=)
2g.48755523C>GCA346815413LHCGR,STON1-GTF2A1Lc.149G>C (p.Gly50Ala)
c.3442-20757C>G (n.3442-20757C>G)
c.47G>C (p.Gly16Ala)
2g.48755523C>TCA346815414LHCGR,STON1-GTF2A1Lc.149G>A (p.Gly50Asp)
c.3442-20757C>T (n.3442-20757C>T)
c.47G>A (p.Gly16Asp)
2g.48755524C>ACA346815415LHCGR,STON1-GTF2A1Lc.148G>T (p.Gly50Cys)
c.3442-20756C>A (n.3442-20756C>A)
c.46G>T (p.Gly16Cys)
 gnomAD v4
2g.48755524C=CA1248636726LHCGR,STON1-GTF2A1Lc.148G= (p.Gly50=)
c.3442-20756C= (n.3442-20756C=)
c.46G= (p.Gly16=)
2g.48755524C>GCA346815416LHCGR,STON1-GTF2A1Lc.148G>C (p.Gly50Arg)
c.3442-20756C>G (n.3442-20756C>G)
c.46G>C (p.Gly16Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.48755524C>TCA47295566LHCGR,STON1-GTF2A1Lc.148G>A (p.Gly50Ser)
c.3442-20756C>T (n.3442-20756C>T)
c.46G>A (p.Gly16Ser)
 dbSNP gnomAD v4
2g.48755524_48755531delinsCGGCCGTGCA1248636725LHCGR,STON1-GTF2A1Lc.141_148delinsCACGGCCG (p.Pro47=)
c.3442-20756_3442-20749delinsCGGCCGTG (n.3442-20756_3442-20749delinsCGGCCGTG)
c.39_46delinsCACGGCCG (p.Pro13=)
2g.48755525G>ACA426095143LHCGR,STON1-GTF2A1Lc.147C>T (p.Ala49=)
c.3442-20755G>A (n.3442-20755G>A)
c.45C>T (p.Ala15=)
 dbSNP gnomAD v3 gnomAD v4
2g.48755525G>CCA426095144LHCGR,STON1-GTF2A1Lc.147C>G (p.Ala49=)
c.3442-20755G>C (n.3442-20755G>C)
c.45C>G (p.Ala15=)
2g.48755525G=CA1248636727LHCGR,STON1-GTF2A1Lc.147C= (p.Ala49=)
c.3442-20755G= (n.3442-20755G=)
c.45C= (p.Ala15=)
2g.48755525G>TCA426095145LHCGR,STON1-GTF2A1Lc.147C>A (p.Ala49=)
c.3442-20755G>T (n.3442-20755G>T)
c.45C>A (p.Ala15=)
 gnomAD v4
2g.48755527_48755533delCA769617892LHCGR,STON1-GTF2A1Lc.141_147del (p.Thr48ValfsTer14)
c.3442-20753_3442-20747del (n.3442-20753_3442-20747del)
c.39_45del (p.Thr14ValfsTer14)
 dbSNP gnomAD v4
2g.48755526G>ACA346815417LHCGR,STON1-GTF2A1Lc.146C>T (p.Ala49Val)
c.3442-20754G>A (n.3442-20754G>A)
c.44C>T (p.Ala15Val)
 dbSNP gnomAD v4
2g.48755526G>CCA346815419LHCGR,STON1-GTF2A1Lc.146C>G (p.Ala49Gly)
c.3442-20754G>C (n.3442-20754G>C)
c.44C>G (p.Ala15Gly)
2g.48755526G=CA1248636728LHCGR,STON1-GTF2A1Lc.146C= (p.Ala49=)
c.3442-20754G= (n.3442-20754G=)
c.44C= (p.Ala15=)
2g.48755526G>TCA346815418LHCGR,STON1-GTF2A1Lc.146C>A (p.Ala49Asp)
c.3442-20754G>T (n.3442-20754G>T)
c.44C>A (p.Ala15Asp)
 gnomAD v4
2g.48755527C>ACA346815420LHCGR,STON1-GTF2A1Lc.145G>T (p.Ala49Ser)
c.3442-20753C>A (n.3442-20753C>A)
c.43G>T (p.Ala15Ser)
 gnomAD v4
2g.48755527C=CA1248636729LHCGR,STON1-GTF2A1Lc.145G= (p.Ala49=)
c.3442-20753C= (n.3442-20753C=)
c.43G= (p.Ala15=)
2g.48755527C>GCA346815421LHCGR,STON1-GTF2A1Lc.145G>C (p.Ala49Pro)
c.3442-20753C>G (n.3442-20753C>G)
c.43G>C (p.Ala15Pro)
2g.48755527C>TCA346815422LHCGR,STON1-GTF2A1Lc.145G>A (p.Ala49Thr)
c.3442-20753C>T (n.3442-20753C>T)
c.43G>A (p.Ala15Thr)
 dbSNP gnomAD v4
2g.48755528C>ACA426095146LHCGR,STON1-GTF2A1Lc.144G>T (p.Thr48=)
c.3442-20752C>A (n.3442-20752C>A)
c.42G>T (p.Thr14=)
 gnomAD v4
2g.48755528C=CA1248636730LHCGR,STON1-GTF2A1Lc.144G= (p.Thr48=)
c.3442-20752C= (n.3442-20752C=)
c.42G= (p.Thr14=)
2g.48755528C>GCA426095147LHCGR,STON1-GTF2A1Lc.144G>C (p.Thr48=)
c.3442-20752C>G (n.3442-20752C>G)
c.42G>C (p.Thr14=)
2g.48755528C>TCA47295567LHCGR,STON1-GTF2A1Lc.144G>A (p.Thr48=)
c.3442-20752C>T (n.3442-20752C>T)
c.42G>A (p.Thr14=)
 dbSNP gnomAD v3 gnomAD v4
2g.48755529G>ACA346815423LHCGR,STON1-GTF2A1Lc.143C>T (p.Thr48Met)
c.3442-20751G>A (n.3442-20751G>A)
c.41C>T (p.Thr14Met)
 dbSNP gnomAD v2 gnomAD v4
2g.48755529G>CCA346815424LHCGR,STON1-GTF2A1Lc.143C>G (p.Thr48Arg)
c.3442-20751G>C (n.3442-20751G>C)
c.41C>G (p.Thr14Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755529G=CA1248636731LHCGR,STON1-GTF2A1Lc.143C= (p.Thr48=)
c.3442-20751G= (n.3442-20751G=)
c.41C= (p.Thr14=)
2g.48755529G>TCA346815425LHCGR,STON1-GTF2A1Lc.143C>A (p.Thr48Lys)
c.3442-20751G>T (n.3442-20751G>T)
c.41C>A (p.Thr14Lys)
 gnomAD v4
2g.48755530T>ACA1653484LHCGR,STON1-GTF2A1Lc.142A>T (p.Thr48Ser)
c.3442-20750T>A (n.3442-20750T>A)
c.40A>T (p.Thr14Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48755530T>CCA346815426LHCGR,STON1-GTF2A1Lc.142A>G (p.Thr48Ala)
c.3442-20750T>C (n.3442-20750T>C)
c.40A>G (p.Thr14Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755530T>GCA346815427LHCGR,STON1-GTF2A1Lc.142A>C (p.Thr48Pro)
c.3442-20750T>G (n.3442-20750T>G)
c.40A>C (p.Thr14Pro)
 gnomAD v4
2g.48755530T=CA1248636732LHCGR,STON1-GTF2A1Lc.142A= (p.Thr48=)
c.3442-20750T= (n.3442-20750T=)
c.40A= (p.Thr14=)
2g.48755531G>ACA426095148LHCGR,STON1-GTF2A1Lc.141C>T (p.Pro47=)
c.3442-20749G>A (n.3442-20749G>A)
c.39C>T (p.Pro13=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755531G>CCA426095150LHCGR,STON1-GTF2A1Lc.141C>G (p.Pro47=)
c.3442-20749G>C (n.3442-20749G>C)
c.39C>G (p.Pro13=)
2g.48755531G=CA1248636733LHCGR,STON1-GTF2A1Lc.141C= (p.Pro47=)
c.3442-20749G= (n.3442-20749G=)
c.39C= (p.Pro13=)
2g.48755531G>TCA426095149LHCGR,STON1-GTF2A1Lc.141C>A (p.Pro47=)
c.3442-20749G>T (n.3442-20749G>T)
c.39C>A (p.Pro13=)
 gnomAD v4
2g.48755532G>ACA346815429LHCGR,STON1-GTF2A1Lc.140C>T (p.Pro47Leu)
c.3442-20748G>A (n.3442-20748G>A)
c.38C>T (p.Pro13Leu)
 dbSNP gnomAD v4
2g.48755532G>CCA346815430LHCGR,STON1-GTF2A1Lc.140C>G (p.Pro47Arg)
c.3442-20748G>C (n.3442-20748G>C)
c.38C>G (p.Pro13Arg)
2g.48755532G=CA1248636734LHCGR,STON1-GTF2A1Lc.140C= (p.Pro47=)
c.3442-20748G= (n.3442-20748G=)
c.38C= (p.Pro13=)
2g.48755532G>TCA346815428LHCGR,STON1-GTF2A1Lc.140C>A (p.Pro47His)
c.3442-20748G>T (n.3442-20748G>T)
c.38C>A (p.Pro13His)
 gnomAD v4
2g.48755536_48755583delCA2658995083LHCGR,STON1-GTF2A1Lc.93_140del (p.Glu32_Pro47del)
c.3442-20744_3442-20697del (n.3442-20744_3442-20697del)
 gnomAD v4
2g.48755533G>ACA346815431LHCGR,STON1-GTF2A1Lc.139C>T (p.Pro47Ser)
c.3442-20747G>A (n.3442-20747G>A)
c.37C>T (p.Pro13Ser)
2g.48755533G>CCA346815432LHCGR,STON1-GTF2A1Lc.139C>G (p.Pro47Ala)
c.3442-20747G>C (n.3442-20747G>C)
c.37C>G (p.Pro13Ala)
2g.48755533G>TCA346815433LHCGR,STON1-GTF2A1Lc.139C>A (p.Pro47Thr)
c.3442-20747G>T (n.3442-20747G>T)
c.37C>A (p.Pro13Thr)
 gnomAD v4
2g.48755534G>ACA426095151LHCGR,STON1-GTF2A1Lc.138C>T (p.Gly46=)
c.3442-20746G>A (n.3442-20746G>A)
c.36C>T (p.Gly12=)
2g.48755534G>CCA426095152LHCGR,STON1-GTF2A1Lc.138C>G (p.Gly46=)
c.3442-20746G>C (n.3442-20746G>C)
c.36C>G (p.Gly12=)
2g.48755534G>TCA426095153LHCGR,STON1-GTF2A1Lc.138C>A (p.Gly46=)
c.3442-20746G>T (n.3442-20746G>T)
c.36C>A (p.Gly12=)
 gnomAD v4
2g.48755535C>ACA346815434LHCGR,STON1-GTF2A1Lc.137G>T (p.Gly46Val)
c.3442-20745C>A (n.3442-20745C>A)
c.35G>T (p.Gly12Val)
2g.48755535C>GCA346815435LHCGR,STON1-GTF2A1Lc.137G>C (p.Gly46Ala)
c.3442-20745C>G (n.3442-20745C>G)
c.35G>C (p.Gly12Ala)
2g.48755535C>TCA346815436LHCGR,STON1-GTF2A1Lc.137G>A (p.Gly46Asp)
c.3442-20745C>T (n.3442-20745C>T)
c.35G>A (p.Gly12Asp)
2g.48755536C>ACA346815437LHCGR,STON1-GTF2A1Lc.136G>T (p.Gly46Cys)
c.3442-20744C>A (n.3442-20744C>A)
c.34G>T (p.Gly12Cys)
 dbSNP gnomAD v2 gnomAD v4
2g.48755536C=CA1248636735LHCGR,STON1-GTF2A1Lc.136G= (p.Gly46=)
c.3442-20744C= (n.3442-20744C=)
c.34G= (p.Gly12=)
2g.48755536C>GCA346815438LHCGR,STON1-GTF2A1Lc.136G>C (p.Gly46Arg)
c.3442-20744C>G (n.3442-20744C>G)
c.34G>C (p.Gly12Arg)
 dbSNP gnomAD v4
2g.48755536C>TCA1653485LHCGR,STON1-GTF2A1Lc.136G>A (p.Gly46Ser)
c.3442-20744C>T (n.3442-20744C>T)
c.34G>A (p.Gly12Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.48755537G>ACA426095154LHCGR,STON1-GTF2A1Lc.135C>T (p.Pro45=)
c.3442-20743G>A (n.3442-20743G>A)
c.33C>T (p.Pro11=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755537G>CCA426095155LHCGR,STON1-GTF2A1Lc.135C>G (p.Pro45=)
c.3442-20743G>C (n.3442-20743G>C)
c.33C>G (p.Pro11=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48755537G=CA1248636736LHCGR,STON1-GTF2A1Lc.135C= (p.Pro45=)
c.3442-20743G= (n.3442-20743G=)
c.33C= (p.Pro11=)
2g.48755537G>TCA426095156LHCGR,STON1-GTF2A1Lc.135C>A (p.Pro45=)
c.3442-20743G>T (n.3442-20743G>T)
c.33C>A (p.Pro11=)
 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

Number of alleles fetched