Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched