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.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.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)

Number of alleles fetched