Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48755524_48755531delinsCGGCCGTG | CA1248636725 | LHCGR,STON1-GTF2A1L | c.141_148delinsCACGGCCG (p.Pro47=) c.3442-20756_3442-20749delinsCGGCCGTG (n.3442-20756_3442-20749delinsCGGCCGTG) c.39_46delinsCACGGCCG (p.Pro13=) | |
2 | g.48755527_48755533del | CA769617892 | LHCGR,STON1-GTF2A1L | c.141_147del (p.Thr48ValfsTer14) c.3442-20753_3442-20747del (n.3442-20753_3442-20747del) c.39_45del (p.Thr14ValfsTer14) | dbSNP gnomAD v4 |
2 | g.48755529G>A | CA346815423 | LHCGR,STON1-GTF2A1L | c.143C>T (p.Thr48Met) c.3442-20751G>A (n.3442-20751G>A) c.41C>T (p.Thr14Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755529G>C | CA346815424 | LHCGR,STON1-GTF2A1L | c.143C>G (p.Thr48Arg) c.3442-20751G>C (n.3442-20751G>C) c.41C>G (p.Thr14Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755529G= | CA1248636731 | LHCGR,STON1-GTF2A1L | c.143C= (p.Thr48=) c.3442-20751G= (n.3442-20751G=) c.41C= (p.Thr14=) | |
2 | g.48755529G>T | CA346815425 | LHCGR,STON1-GTF2A1L | c.143C>A (p.Thr48Lys) c.3442-20751G>T (n.3442-20751G>T) c.41C>A (p.Thr14Lys) | gnomAD v4 |
2 | g.48755530T>A | CA1653484 | LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48755530T>C | CA346815426 | LHCGR,STON1-GTF2A1L | c.142A>G (p.Thr48Ala) c.3442-20750T>C (n.3442-20750T>C) c.40A>G (p.Thr14Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755530T>G | CA346815427 | LHCGR,STON1-GTF2A1L | c.142A>C (p.Thr48Pro) c.3442-20750T>G (n.3442-20750T>G) c.40A>C (p.Thr14Pro) | gnomAD v4 |
2 | g.48755530T= | CA1248636732 | LHCGR,STON1-GTF2A1L | c.142A= (p.Thr48=) c.3442-20750T= (n.3442-20750T=) c.40A= (p.Thr14=) | |
2 | g.48755531G>A | CA426095148 | LHCGR,STON1-GTF2A1L | c.141C>T (p.Pro47=) c.3442-20749G>A (n.3442-20749G>A) c.39C>T (p.Pro13=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755531G>C | CA426095150 | LHCGR,STON1-GTF2A1L | c.141C>G (p.Pro47=) c.3442-20749G>C (n.3442-20749G>C) c.39C>G (p.Pro13=) | |
2 | g.48755531G= | CA1248636733 | LHCGR,STON1-GTF2A1L | c.141C= (p.Pro47=) c.3442-20749G= (n.3442-20749G=) c.39C= (p.Pro13=) | |
2 | g.48755531G>T | CA426095149 | LHCGR,STON1-GTF2A1L | c.141C>A (p.Pro47=) c.3442-20749G>T (n.3442-20749G>T) c.39C>A (p.Pro13=) | gnomAD v4 |
2 | g.48755532G>A | CA346815429 | LHCGR,STON1-GTF2A1L | c.140C>T (p.Pro47Leu) c.3442-20748G>A (n.3442-20748G>A) c.38C>T (p.Pro13Leu) | dbSNP gnomAD v4 |
2 | g.48755532G>C | CA346815430 | LHCGR,STON1-GTF2A1L | c.140C>G (p.Pro47Arg) c.3442-20748G>C (n.3442-20748G>C) c.38C>G (p.Pro13Arg) | |
2 | g.48755532G= | CA1248636734 | LHCGR,STON1-GTF2A1L | c.140C= (p.Pro47=) c.3442-20748G= (n.3442-20748G=) c.38C= (p.Pro13=) | |
2 | g.48755532G>T | CA346815428 | LHCGR,STON1-GTF2A1L | c.140C>A (p.Pro47His) c.3442-20748G>T (n.3442-20748G>T) c.38C>A (p.Pro13His) | gnomAD v4 |
2 | g.48755536_48755583del | CA2658995083 | LHCGR,STON1-GTF2A1L | c.93_140del (p.Glu32_Pro47del) c.3442-20744_3442-20697del (n.3442-20744_3442-20697del) | gnomAD v4 |
2 | g.48755533G>A | CA346815431 | LHCGR,STON1-GTF2A1L | c.139C>T (p.Pro47Ser) c.3442-20747G>A (n.3442-20747G>A) c.37C>T (p.Pro13Ser) | |
2 | g.48755533G>C | CA346815432 | LHCGR,STON1-GTF2A1L | c.139C>G (p.Pro47Ala) c.3442-20747G>C (n.3442-20747G>C) c.37C>G (p.Pro13Ala) | |
2 | g.48755533G>T | CA346815433 | LHCGR,STON1-GTF2A1L | c.139C>A (p.Pro47Thr) c.3442-20747G>T (n.3442-20747G>T) c.37C>A (p.Pro13Thr) | gnomAD v4 |
2 | g.48755534G>A | CA426095151 | LHCGR,STON1-GTF2A1L | c.138C>T (p.Gly46=) c.3442-20746G>A (n.3442-20746G>A) c.36C>T (p.Gly12=) | |
2 | g.48755534G>C | CA426095152 | LHCGR,STON1-GTF2A1L | c.138C>G (p.Gly46=) c.3442-20746G>C (n.3442-20746G>C) c.36C>G (p.Gly12=) | |
2 | g.48755534G>T | CA426095153 | LHCGR,STON1-GTF2A1L | c.138C>A (p.Gly46=) c.3442-20746G>T (n.3442-20746G>T) c.36C>A (p.Gly12=) | gnomAD v4 |
2 | g.48755535C>A | CA346815434 | LHCGR,STON1-GTF2A1L | c.137G>T (p.Gly46Val) c.3442-20745C>A (n.3442-20745C>A) c.35G>T (p.Gly12Val) | |
2 | g.48755535C>G | CA346815435 | LHCGR,STON1-GTF2A1L | c.137G>C (p.Gly46Ala) c.3442-20745C>G (n.3442-20745C>G) c.35G>C (p.Gly12Ala) | |
2 | g.48755535C>T | CA346815436 | LHCGR,STON1-GTF2A1L | c.137G>A (p.Gly46Asp) c.3442-20745C>T (n.3442-20745C>T) c.35G>A (p.Gly12Asp) | |
2 | g.48755536C>A | CA346815437 | LHCGR,STON1-GTF2A1L | c.136G>T (p.Gly46Cys) c.3442-20744C>A (n.3442-20744C>A) c.34G>T (p.Gly12Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755536C= | CA1248636735 | LHCGR,STON1-GTF2A1L | c.136G= (p.Gly46=) c.3442-20744C= (n.3442-20744C=) c.34G= (p.Gly12=) | |
2 | g.48755536C>G | CA346815438 | LHCGR,STON1-GTF2A1L | c.136G>C (p.Gly46Arg) c.3442-20744C>G (n.3442-20744C>G) c.34G>C (p.Gly12Arg) | dbSNP gnomAD v4 |
2 | g.48755536C>T | CA1653485 | LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48755537G>A | CA426095154 | LHCGR,STON1-GTF2A1L | c.135C>T (p.Pro45=) c.3442-20743G>A (n.3442-20743G>A) c.33C>T (p.Pro11=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755537G>C | CA426095155 | LHCGR,STON1-GTF2A1L | c.135C>G (p.Pro45=) c.3442-20743G>C (n.3442-20743G>C) c.33C>G (p.Pro11=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755537G= | CA1248636736 | LHCGR,STON1-GTF2A1L | c.135C= (p.Pro45=) c.3442-20743G= (n.3442-20743G=) c.33C= (p.Pro11=) | |
2 | g.48755537G>T | CA426095156 | LHCGR,STON1-GTF2A1L | c.135C>A (p.Pro45=) c.3442-20743G>T (n.3442-20743G>T) c.33C>A (p.Pro11=) | gnomAD v4 |
2 | g.48755540del | CA2658995084 | LHCGR,STON1-GTF2A1L | c.135del (p.Gly46AlafsTer18) c.3442-20740del (n.3442-20740del) c.33del (p.Gly12AlafsTer18) | gnomAD v4 |
2 | g.48755538G>A | CA346815439 | LHCGR,STON1-GTF2A1L | c.134C>T (p.Pro45Leu) c.3442-20742G>A (n.3442-20742G>A) c.32C>T (p.Pro11Leu) | dbSNP gnomAD v4 |
2 | g.48755538G>C | CA346815440 | LHCGR,STON1-GTF2A1L | c.134C>G (p.Pro45Arg) c.3442-20742G>C (n.3442-20742G>C) c.32C>G (p.Pro11Arg) | gnomAD v4 |
2 | g.48755538G= | CA1248636737 | LHCGR,STON1-GTF2A1L | c.134C= (p.Pro45=) c.3442-20742G= (n.3442-20742G=) c.32C= (p.Pro11=) | |
2 | g.48755538G>T | CA346815441 | LHCGR,STON1-GTF2A1L | c.134C>A (p.Pro45His) c.3442-20742G>T (n.3442-20742G>T) c.32C>A (p.Pro11His) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48755539G>A | CA346815443 | LHCGR,STON1-GTF2A1L | c.133C>T (p.Pro45Ser) c.3442-20741G>A (n.3442-20741G>A) c.31C>T (p.Pro11Ser) | gnomAD v4 |
2 | g.48755539G>C | CA346815444 | LHCGR,STON1-GTF2A1L | c.133C>G (p.Pro45Ala) c.3442-20741G>C (n.3442-20741G>C) c.31C>G (p.Pro11Ala) | |
2 | g.48755539G>T | CA346815442 | LHCGR,STON1-GTF2A1L | c.133C>A (p.Pro45Thr) c.3442-20741G>T (n.3442-20741G>T) c.31C>A (p.Pro11Thr) | gnomAD v4 |
2 | g.48755540G>A | CA426095157 | LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48755540G>C | CA346815445 | LHCGR,STON1-GTF2A1L | c.132C>G (p.Cys44Trp) c.3442-20740G>C (n.3442-20740G>C) c.30C>G (p.Cys10Trp) | |
2 | g.48755540G= | CA1248636738 | LHCGR,STON1-GTF2A1L | c.132C= (p.Cys44=) c.3442-20740G= (n.3442-20740G=) c.30C= (p.Cys10=) | |
2 | g.48755540G>T | CA346815446 | LHCGR,STON1-GTF2A1L | c.132C>A (p.Cys44Ter) c.3442-20740G>T (n.3442-20740G>T) c.30C>A (p.Cys10Ter) | gnomAD v4 |
2 | g.48755541C>A | CA346815447 | LHCGR,STON1-GTF2A1L | c.131G>T (p.Cys44Phe) c.3442-20739C>A (n.3442-20739C>A) c.29G>T (p.Cys10Phe) | gnomAD v4 |
2 | g.48755541C>G | CA346815448 | LHCGR,STON1-GTF2A1L | c.131G>C (p.Cys44Ser) c.3442-20739C>G (n.3442-20739C>G) c.29G>C (p.Cys10Ser) |