Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched