Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.48755540del | CA2658995084 | LHCGR,STON1-GTF2A1L | c.135del (p.Gly46AlafsTer18) c.3442-20740del (n.3442-20740del) c.33del (p.Gly12AlafsTer18) | 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) | |
2 | g.48755541C>T | CA346815449 | LHCGR,STON1-GTF2A1L | c.131G>A (p.Cys44Tyr) c.3442-20739C>T (n.3442-20739C>T) c.29G>A (p.Cys10Tyr) | gnomAD v4 |
2 | g.48755542A>C | CA346815452 | LHCGR,STON1-GTF2A1L | c.130T>G (p.Cys44Gly) c.3442-20738A>C (n.3442-20738A>C) c.28T>G (p.Cys10Gly) | |
2 | g.48755542A>G | CA346815450 | LHCGR,STON1-GTF2A1L | c.130T>C (p.Cys44Arg) c.3442-20738A>G (n.3442-20738A>G) c.28T>C (p.Cys10Arg) | |
2 | g.48755542A>T | CA346815451 | LHCGR,STON1-GTF2A1L | c.130T>A (p.Cys44Ser) c.3442-20738A>T (n.3442-20738A>T) c.28T>A (p.Cys10Ser) | |
2 | g.48755543G>A | CA426095158 | LHCGR,STON1-GTF2A1L | c.129C>T (p.Arg43=) c.3442-20737G>A (n.3442-20737G>A) c.27C>T (p.Arg9=) | |
2 | g.48755543G>C | CA426095159 | LHCGR,STON1-GTF2A1L | c.129C>G (p.Arg43=) c.3442-20737G>C (n.3442-20737G>C) c.27C>G (p.Arg9=) | |
2 | g.48755543G>T | CA426095160 | LHCGR,STON1-GTF2A1L | c.129C>A (p.Arg43=) c.3442-20737G>T (n.3442-20737G>T) c.27C>A (p.Arg9=) | gnomAD v4 |
2 | g.48755544C>A | CA346815453 | LHCGR,STON1-GTF2A1L | c.128G>T (p.Arg43Leu) c.3442-20736C>A (n.3442-20736C>A) c.26G>T (p.Arg9Leu) | gnomAD v4 |
2 | g.48755544C>G | CA346815454 | LHCGR,STON1-GTF2A1L | c.128G>C (p.Arg43Pro) c.3442-20736C>G (n.3442-20736C>G) c.26G>C (p.Arg9Pro) | |
2 | g.48755544C>T | CA346815455 | LHCGR,STON1-GTF2A1L | c.128G>A (p.Arg43His) c.3442-20736C>T (n.3442-20736C>T) c.26G>A (p.Arg9His) | gnomAD v4 COSMIC |
2 | g.48755545G>A | CA346815456 | LHCGR,STON1-GTF2A1L | c.127C>T (p.Arg43Cys) c.3442-20735G>A (n.3442-20735G>A) c.25C>T (p.Arg9Cys) | |
2 | g.48755545G>C | CA346815457 | LHCGR,STON1-GTF2A1L | c.127C>G (p.Arg43Gly) c.3442-20735G>C (n.3442-20735G>C) c.25C>G (p.Arg9Gly) | |
2 | g.48755545G= | CA1248636739 | LHCGR,STON1-GTF2A1L | c.127C= (p.Arg43=) c.3442-20735G= (n.3442-20735G=) c.25C= (p.Arg9=) | |
2 | g.48755545G>T | CA346815458 | LHCGR,STON1-GTF2A1L | c.127C>A (p.Arg43Ser) c.3442-20735G>T (n.3442-20735G>T) c.25C>A (p.Arg9Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755546C>A | CA426095161 | LHCGR,STON1-GTF2A1L | c.126G>T (p.Leu42=) c.3442-20734C>A (n.3442-20734C>A) c.24G>T (p.Leu8=) | |
2 | g.48755546C= | CA1248636740 | LHCGR,STON1-GTF2A1L | c.126G= (p.Leu42=) c.3442-20734C= (n.3442-20734C=) c.24G= (p.Leu8=) | |
2 | g.48755546C>G | CA426095162 | LHCGR,STON1-GTF2A1L | c.126G>C (p.Leu42=) c.3442-20734C>G (n.3442-20734C>G) c.24G>C (p.Leu8=) | |
2 | g.48755546C>T | CA426095163 | LHCGR,STON1-GTF2A1L | c.126G>A (p.Leu42=) c.3442-20734C>T (n.3442-20734C>T) c.24G>A (p.Leu8=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755547A= | CA1248636741 | LHCGR,STON1-GTF2A1L | c.125T= (p.Leu42=) c.3442-20733A= (n.3442-20733A=) c.23T= (p.Leu8=) | |
2 | g.48755547A>C | CA346815460 | LHCGR,STON1-GTF2A1L | c.125T>G (p.Leu42Arg) c.3442-20733A>C (n.3442-20733A>C) c.23T>G (p.Leu8Arg) | |
2 | g.48755547A>G | CA346815461 | LHCGR,STON1-GTF2A1L | c.125T>C (p.Leu42Pro) c.3442-20733A>G (n.3442-20733A>G) c.23T>C (p.Leu8Pro) | dbSNP gnomAD v4 |
2 | g.48755547A>T | CA346815459 | LHCGR,STON1-GTF2A1L | c.125T>A (p.Leu42Gln) c.3442-20733A>T (n.3442-20733A>T) c.23T>A (p.Leu8Gln) | gnomAD v4 |
2 | g.48755548G>A | CA426095164 | LHCGR,STON1-GTF2A1L | c.124C>T (p.Leu42=) c.3442-20732G>A (n.3442-20732G>A) c.22C>T (p.Leu8=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755548G>C | CA346815463 | LHCGR,STON1-GTF2A1L | c.124C>G (p.Leu42Val) c.3442-20732G>C (n.3442-20732G>C) c.22C>G (p.Leu8Val) | |
2 | g.48755548G= | CA1248636742 | LHCGR,STON1-GTF2A1L | c.124C= (p.Leu42=) c.3442-20732G= (n.3442-20732G=) c.22C= (p.Leu8=) | |
2 | g.48755548G>T | CA346815462 | LHCGR,STON1-GTF2A1L | c.124C>A (p.Leu42Met) c.3442-20732G>T (n.3442-20732G>T) c.22C>A (p.Leu8Met) | gnomAD v4 |
2 | g.48755549G>A | CA426095165 | LHCGR,STON1-GTF2A1L | c.123C>T (p.Ala41=) c.3442-20731G>A (n.3442-20731G>A) c.21C>T (p.Ala7=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755549G>C | CA426095166 | LHCGR,STON1-GTF2A1L | c.123C>G (p.Ala41=) c.3442-20731G>C (n.3442-20731G>C) c.21C>G (p.Ala7=) | |
2 | g.48755549G= | CA1248636743 | LHCGR,STON1-GTF2A1L | c.123C= (p.Ala41=) c.3442-20731G= (n.3442-20731G=) c.21C= (p.Ala7=) | |
2 | g.48755549G>T | CA426095167 | LHCGR,STON1-GTF2A1L | c.123C>A (p.Ala41=) c.3442-20731G>T (n.3442-20731G>T) c.21C>A (p.Ala7=) | gnomAD v4 |
2 | g.48755550G>A | CA346815465 | LHCGR,STON1-GTF2A1L | c.122C>T (p.Ala41Val) c.3442-20730G>A (n.3442-20730G>A) c.20C>T (p.Ala7Val) | gnomAD v4 |
2 | g.48755550G>C | CA346815464 | LHCGR,STON1-GTF2A1L | c.122C>G (p.Ala41Gly) c.3442-20730G>C (n.3442-20730G>C) c.20C>G (p.Ala7Gly) | |
2 | g.48755550G>T | CA346815466 | LHCGR,STON1-GTF2A1L | c.122C>A (p.Ala41Asp) c.3442-20730G>T (n.3442-20730G>T) c.20C>A (p.Ala7Asp) | gnomAD v4 |
2 | g.48755551C>A | CA346815467 | LHCGR,STON1-GTF2A1L | c.121G>T (p.Ala41Ser) c.3442-20729C>A (n.3442-20729C>A) c.19G>T (p.Ala7Ser) | gnomAD v4 |
2 | g.48755551C>G | CA346815469 | LHCGR,STON1-GTF2A1L | c.121G>C (p.Ala41Pro) c.3442-20729C>G (n.3442-20729C>G) c.19G>C (p.Ala7Pro) | |
2 | g.48755551C>T | CA346815468 | LHCGR,STON1-GTF2A1L | c.121G>A (p.Ala41Thr) c.3442-20729C>T (n.3442-20729C>T) c.19G>A (p.Ala7Thr) | gnomAD v4 |
2 | g.48755552G>A | CA426095169 | LHCGR,STON1-GTF2A1L | c.120C>T (p.Gly40=) c.3442-20728G>A (n.3442-20728G>A) c.18C>T (p.Gly6=) | gnomAD v4 |
2 | g.48755552G>C | CA426095170 | LHCGR,STON1-GTF2A1L | c.120C>G (p.Gly40=) c.3442-20728G>C (n.3442-20728G>C) c.18C>G (p.Gly6=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755552G= | CA1248636744 | LHCGR,STON1-GTF2A1L | c.120C= (p.Gly40=) c.3442-20728G= (n.3442-20728G=) c.18C= (p.Gly6=) | |
2 | g.48755552G>T | CA426095168 | LHCGR,STON1-GTF2A1L | c.120C>A (p.Gly40=) c.3442-20728G>T (n.3442-20728G>T) c.18C>A (p.Gly6=) | gnomAD v4 |
2 | g.48755553C>A | CA346815470 | LHCGR,STON1-GTF2A1L | c.119G>T (p.Gly40Val) c.3442-20727C>A (n.3442-20727C>A) c.17G>T (p.Gly6Val) | gnomAD v4 |
2 | g.48755553C= | CA1248636745 | LHCGR,STON1-GTF2A1L | c.119G= (p.Gly40=) c.3442-20727C= (n.3442-20727C=) c.17G= (p.Gly6=) | |
2 | g.48755553C>G | CA346815471 | LHCGR,STON1-GTF2A1L | c.119G>C (p.Gly40Ala) c.3442-20727C>G (n.3442-20727C>G) c.17G>C (p.Gly6Ala) | |
2 | g.48755553C>T | CA47295568 | LHCGR,STON1-GTF2A1L | c.119G>A (p.Gly40Asp) c.3442-20727C>T (n.3442-20727C>T) c.17G>A (p.Gly6Asp) | dbSNP gnomAD v4 |
2 | g.48755554C>A | CA346815472 | LHCGR,STON1-GTF2A1L | c.118G>T (p.Gly40Cys) c.3442-20726C>A (n.3442-20726C>A) c.16G>T (p.Gly6Cys) | ClinVar gnomAD v4 |
2 | g.48755554C= | CA1248636746 | LHCGR,STON1-GTF2A1L | c.118G= (p.Gly40=) c.3442-20726C= (n.3442-20726C=) c.16G= (p.Gly6=) | |
2 | g.48755554C>G | CA346815474 | LHCGR,STON1-GTF2A1L | c.118G>C (p.Gly40Arg) c.3442-20726C>G (n.3442-20726C>G) c.16G>C (p.Gly6Arg) | dbSNP |
2 | g.48755554C>T | CA346815473 | LHCGR,STON1-GTF2A1L | c.118G>A (p.Gly40Ser) c.3442-20726C>T (n.3442-20726C>T) c.16G>A (p.Gly6Ser) | gnomAD v4 |
2 | g.48755555G>A | CA426095171 | LHCGR,STON1-GTF2A1L | c.117C>T (p.Asp39=) c.3442-20725G>A (n.3442-20725G>A) c.15C>T (p.Asp5=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755555G>C | CA346815475 | LHCGR,STON1-GTF2A1L | c.117C>G (p.Asp39Glu) c.3442-20725G>C (n.3442-20725G>C) c.15C>G (p.Asp5Glu) | |
2 | g.48755555G= | CA1248636747 | LHCGR,STON1-GTF2A1L | c.117C= (p.Asp39=) c.3442-20725G= (n.3442-20725G=) c.15C= (p.Asp5=) | |
2 | g.48755555G>T | CA346815476 | LHCGR,STON1-GTF2A1L | c.117C>A (p.Asp39Glu) c.3442-20725G>T (n.3442-20725G>T) c.15C>A (p.Asp5Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755556T>A | CA346815477 | LHCGR,STON1-GTF2A1L | c.116A>T (p.Asp39Val) c.3442-20724T>A (n.3442-20724T>A) c.14A>T (p.Asp5Val) | |
2 | g.48755556T>C | CA346815478 | LHCGR,STON1-GTF2A1L | c.116A>G (p.Asp39Gly) c.3442-20724T>C (n.3442-20724T>C) c.14A>G (p.Asp5Gly) | dbSNP |
2 | g.48755556T>G | CA346815479 | LHCGR,STON1-GTF2A1L | c.116A>C (p.Asp39Ala) c.3442-20724T>G (n.3442-20724T>G) c.14A>C (p.Asp5Ala) | |
2 | g.48755557C>A | CA346815480 | LHCGR,STON1-GTF2A1L | c.115G>T (p.Asp39Tyr) c.3442-20723C>A (n.3442-20723C>A) c.13G>T (p.Asp5Tyr) | |
2 | g.48755557C= | CA1248636748 | LHCGR,STON1-GTF2A1L | c.115G= (p.Asp39=) c.3442-20723C= (n.3442-20723C=) c.13G= (p.Asp5=) | |
2 | g.48755557C>G | CA346815481 | LHCGR,STON1-GTF2A1L | c.115G>C (p.Asp39His) c.3442-20723C>G (n.3442-20723C>G) c.13G>C (p.Asp5His) | |
2 | g.48755557C>T | CA1653486 | LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48755558G>A | CA426095172 | LHCGR,STON1-GTF2A1L | c.114C>T (p.Pro38=) c.3442-20722G>A (n.3442-20722G>A) c.12C>T (p.Pro4=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755558G>C | CA1653487 | LHCGR,STON1-GTF2A1L | c.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 |
2 | g.48755558G= | CA1248636749 | LHCGR,STON1-GTF2A1L | c.114C= (p.Pro38=) c.3442-20722G= (n.3442-20722G=) c.12C= (p.Pro4=) | |
2 | g.48755558G>T | CA426095173 | LHCGR,STON1-GTF2A1L | c.114C>A (p.Pro38=) c.3442-20722G>T (n.3442-20722G>T) c.12C>A (p.Pro4=) | gnomAD v4 |
2 | g.48755559G>A | CA346815484 | LHCGR,STON1-GTF2A1L | c.113C>T (p.Pro38Leu) c.3442-20721G>A (n.3442-20721G>A) c.11C>T (p.Pro4Leu) | |
2 | g.48755559G>C | CA346815483 | LHCGR,STON1-GTF2A1L | c.113C>G (p.Pro38Arg) c.3442-20721G>C (n.3442-20721G>C) c.11C>G (p.Pro4Arg) | gnomAD v4 |
2 | g.48755559G>T | CA346815482 | LHCGR,STON1-GTF2A1L | c.113C>A (p.Pro38His) c.3442-20721G>T (n.3442-20721G>T) c.11C>A (p.Pro4His) | gnomAD v4 |
2 | g.48755560G>A | CA346815485 | LHCGR,STON1-GTF2A1L | c.112C>T (p.Pro38Ser) c.3442-20720G>A (n.3442-20720G>A) c.10C>T (p.Pro4Ser) | gnomAD v4 |
2 | g.48755560G>C | CA346815486 | LHCGR,STON1-GTF2A1L | c.112C>G (p.Pro38Ala) c.3442-20720G>C (n.3442-20720G>C) c.10C>G (p.Pro4Ala) | |
2 | g.48755560G= | CA1248636750 | LHCGR,STON1-GTF2A1L | c.112C= (p.Pro38=) c.3442-20720G= (n.3442-20720G=) c.10C= (p.Pro4=) | |
2 | g.48755560G>T | CA346815487 | LHCGR,STON1-GTF2A1L | c.112C>A (p.Pro38Thr) c.3442-20720G>T (n.3442-20720G>T) c.10C>A (p.Pro4Thr) | dbSNP gnomAD v4 |
2 | g.48755561C>A | CA426095174 | LHCGR,STON1-GTF2A1L | c.111G>T (p.Val37=) c.3442-20719C>A (n.3442-20719C>A) c.9G>T (p.Val3=) | gnomAD v4 |
2 | g.48755561C>G | CA426095175 | LHCGR,STON1-GTF2A1L | c.111G>C (p.Val37=) c.3442-20719C>G (n.3442-20719C>G) c.9G>C (p.Val3=) | |
2 | g.48755561C>T | CA426095176 | LHCGR,STON1-GTF2A1L | c.111G>A (p.Val37=) c.3442-20719C>T (n.3442-20719C>T) c.9G>A (p.Val3=) | gnomAD v4 |
2 | g.48755562A>C | CA346815488 | LHCGR,STON1-GTF2A1L | c.110T>G (p.Val37Gly) c.3442-20718A>C (n.3442-20718A>C) c.8T>G (p.Val3Gly) | |
2 | g.48755562A>G | CA346815489 | LHCGR,STON1-GTF2A1L | c.110T>C (p.Val37Ala) c.3442-20718A>G (n.3442-20718A>G) c.8T>C (p.Val3Ala) | |
2 | g.48755562A>T | CA346815490 | LHCGR,STON1-GTF2A1L | c.110T>A (p.Val37Glu) c.3442-20718A>T (n.3442-20718A>T) c.8T>A (p.Val3Glu) | gnomAD v4 |
2 | g.48755563C>A | CA346815491 | LHCGR,STON1-GTF2A1L | c.109G>T (p.Val37Leu) c.3442-20717C>A (n.3442-20717C>A) c.7G>T (p.Val3Leu) | gnomAD v4 |
2 | g.48755563C= | CA1248636751 | LHCGR,STON1-GTF2A1L | c.109G= (p.Val37=) c.3442-20717C= (n.3442-20717C=) c.7G= (p.Val3=) | |
2 | g.48755563C>G | CA346815492 | LHCGR,STON1-GTF2A1L | c.109G>C (p.Val37Leu) c.3442-20717C>G (n.3442-20717C>G) c.7G>C (p.Val3Leu) | dbSNP |
2 | g.48755563C>T | CA346815493 | LHCGR,STON1-GTF2A1L | c.109G>A (p.Val37Met) c.3442-20717C>T (n.3442-20717C>T) c.7G>A (p.Val3Met) | dbSNP gnomAD v4 |
2 | g.48755564G>A | CA426095177 | LHCGR,STON1-GTF2A1L | c.108C>T (p.Cys36=) c.3442-20716G>A (n.3442-20716G>A) c.6C>T (p.Cys2=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755564G>C | CA346815494 | LHCGR,STON1-GTF2A1L | c.108C>G (p.Cys36Trp) c.3442-20716G>C (n.3442-20716G>C) c.6C>G (p.Cys2Trp) | |
2 | g.48755564G= | CA1248636752 | LHCGR,STON1-GTF2A1L | c.108C= (p.Cys36=) c.3442-20716G= (n.3442-20716G=) c.6C= (p.Cys2=) | |
2 | g.48755564G>T | CA346815495 | LHCGR,STON1-GTF2A1L | c.108C>A (p.Cys36Ter) c.3442-20716G>T (n.3442-20716G>T) c.6C>A (p.Cys2Ter) | gnomAD v4 |
2 | g.48755565C>A | CA346815497 | LHCGR,STON1-GTF2A1L | c.107G>T (p.Cys36Phe) c.3442-20715C>A (n.3442-20715C>A) c.5G>T (p.Cys2Phe) | |
2 | g.48755565C>G | CA346815498 | LHCGR,STON1-GTF2A1L | c.107G>C (p.Cys36Ser) c.3442-20715C>G (n.3442-20715C>G) c.5G>C (p.Cys2Ser) | |
2 | g.48755565C>T | CA346815496 | LHCGR,STON1-GTF2A1L | c.107G>A (p.Cys36Tyr) c.3442-20715C>T (n.3442-20715C>T) c.5G>A (p.Cys2Tyr) | |
2 | g.48755566A>C | CA346815499 | LHCGR,STON1-GTF2A1L | c.106T>G (p.Cys36Gly) c.3442-20714A>C (n.3442-20714A>C) c.4T>G (p.Cys2Gly) | |
2 | g.48755566A>G | CA346815500 | LHCGR,STON1-GTF2A1L | c.106T>C (p.Cys36Arg) c.3442-20714A>G (n.3442-20714A>G) c.4T>C (p.Cys2Arg) | gnomAD v4 |
2 | g.48755566A>T | CA346815501 | LHCGR,STON1-GTF2A1L | c.106T>A (p.Cys36Ser) c.3442-20714A>T (n.3442-20714A>T) c.4T>A (p.Cys2Ser) | gnomAD v4 |
2 | g.48755567G>A | CA426095178 | LHCGR,STON1-GTF2A1L | c.105C>T (p.Asn35=) c.3442-20713G>A (n.3442-20713G>A) c.3C>T (p.Asn1=) | gnomAD v4 |
2 | g.48755567G>C | CA346815502 | LHCGR,STON1-GTF2A1L | c.105C>G (p.Asn35Lys) c.3442-20713G>C (n.3442-20713G>C) c.3C>G (p.Asn1Lys) | |
2 | g.48755567G>T | CA346815503 | LHCGR,STON1-GTF2A1L | c.105C>A (p.Asn35Lys) c.3442-20713G>T (n.3442-20713G>T) c.3C>A (p.Asn1Lys) | gnomAD v4 |
2 | g.48755568T>A | CA346815506 | LHCGR,STON1-GTF2A1L | c.104A>T (p.Asn35Ile) c.3442-20712T>A (n.3442-20712T>A) c.2A>T (p.Asn1Ile) | |
2 | g.48755568T>C | CA346815504 | LHCGR,STON1-GTF2A1L | c.104A>G (p.Asn35Ser) c.3442-20712T>C (n.3442-20712T>C) c.2A>G (p.Asn1Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755568T>G | CA346815505 | LHCGR,STON1-GTF2A1L | c.104A>C (p.Asn35Thr) c.3442-20712T>G (n.3442-20712T>G) c.2A>C (p.Asn1Thr) | |
2 | g.48755568T= | CA1248636753 | LHCGR,STON1-GTF2A1L | c.104A= (p.Asn35=) c.3442-20712T= (n.3442-20712T=) c.2A= (p.Asn1=) | |
2 | g.48755569T>A | CA346815507 | LHCGR,STON1-GTF2A1L | c.103A>T (p.Asn35Tyr) c.3442-20711T>A (n.3442-20711T>A) c.1A>T (p.Asn1Tyr) | dbSNP gnomAD v4 |
2 | g.48755569T>C | CA346815508 | LHCGR,STON1-GTF2A1L | c.103A>G (p.Asn35Asp) c.3442-20711T>C (n.3442-20711T>C) c.1A>G (p.Asn1Asp) | gnomAD v4 |
2 | g.48755569T>G | CA346815509 | LHCGR,STON1-GTF2A1L | c.103A>C (p.Asn35His) c.3442-20711T>G (n.3442-20711T>G) c.1A>C (p.Asn1His) | dbSNP |
2 | g.48755569T= | CA1248636754 | LHCGR,STON1-GTF2A1L | c.103A= (p.Asn35=) c.3442-20711T= (n.3442-20711T=) c.1A= (p.Asn1=) | |
2 | g.48755570G>A | CA426095179 | LHCGR,STON1-GTF2A1L | c.102C>T (p.Cys34=) c.3442-20710G>A (n.3442-20710G>A) | dbSNP gnomAD v4 |
2 | g.48755570G>C | CA346815510 | LHCGR,STON1-GTF2A1L | c.102C>G (p.Cys34Trp) c.3442-20710G>C (n.3442-20710G>C) | |
2 | g.48755570G= | CA1248636755 | LHCGR,STON1-GTF2A1L | c.102C= (p.Cys34=) c.3442-20710G= (n.3442-20710G=) | |
2 | g.48755570G>T | CA346815511 | LHCGR,STON1-GTF2A1L | c.102C>A (p.Cys34Ter) c.3442-20710G>T (n.3442-20710G>T) | gnomAD v4 |
2 | g.48755571C>A | CA346815512 | LHCGR,STON1-GTF2A1L | c.101G>T (p.Cys34Phe) c.3442-20709C>A (n.3442-20709C>A) | gnomAD v4 |
2 | g.48755571C= | CA1248636756 | LHCGR,STON1-GTF2A1L | c.101G= (p.Cys34=) c.3442-20709C= (n.3442-20709C=) | |
2 | g.48755571C>G | CA346815514 | LHCGR,STON1-GTF2A1L | c.101G>C (p.Cys34Ser) c.3442-20709C>G (n.3442-20709C>G) | |
2 | g.48755571C>T | CA346815513 | LHCGR,STON1-GTF2A1L | c.101G>A (p.Cys34Tyr) c.3442-20709C>T (n.3442-20709C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755572A>C | CA346815515 | LHCGR,STON1-GTF2A1L | c.100T>G (p.Cys34Gly) c.3442-20708A>C (n.3442-20708A>C) | |
2 | g.48755572A>G | CA346815516 | LHCGR,STON1-GTF2A1L | c.100T>C (p.Cys34Arg) c.3442-20708A>G (n.3442-20708A>G) | gnomAD v4 |
2 | g.48755572A>T | CA346815517 | LHCGR,STON1-GTF2A1L | c.100T>A (p.Cys34Ser) c.3442-20708A>T (n.3442-20708A>T) | |
2 | g.48755573G>A | CA426095180 | LHCGR,STON1-GTF2A1L | c.99C>T (p.Pro33=) c.3442-20707G>A (n.3442-20707G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755573G>C | CA426095182 | LHCGR,STON1-GTF2A1L | c.99C>G (p.Pro33=) c.3442-20707G>C (n.3442-20707G>C) | gnomAD v4 |
2 | g.48755573G= | CA1248636757 | LHCGR,STON1-GTF2A1L | c.99C= (p.Pro33=) c.3442-20707G= (n.3442-20707G=) | |
2 | g.48755573G>T | CA426095181 | LHCGR,STON1-GTF2A1L | c.99C>A (p.Pro33=) c.3442-20707G>T (n.3442-20707G>T) | gnomAD v4 |
2 | g.48755575del | CA2658995086 | LHCGR,STON1-GTF2A1L | c.99del (p.Cys34AlafsTer?) c.3442-20705del (n.3442-20705del) | gnomAD v4 |
2 | g.48755573_48755578dup | CA2658995085 | LHCGR,STON1-GTF2A1L | c.94_99dup (p.Pro33_Cys34insGluPro) c.3442-20707_3442-20702dup (n.3442-20707_3442-20702dup) | gnomAD v4 |
2 | g.48755574G>A | CA346815518 | LHCGR,STON1-GTF2A1L | c.98C>T (p.Pro33Leu) c.3442-20706G>A (n.3442-20706G>A) | |
2 | g.48755574G>C | CA346815519 | LHCGR,STON1-GTF2A1L | c.98C>G (p.Pro33Arg) c.3442-20706G>C (n.3442-20706G>C) | |
2 | g.48755574G>T | CA346815520 | LHCGR,STON1-GTF2A1L | c.98C>A (p.Pro33His) c.3442-20706G>T (n.3442-20706G>T) | gnomAD v4 |
2 | g.48755575G>A | CA346815521 | LHCGR,STON1-GTF2A1L | c.97C>T (p.Pro33Ser) c.3442-20705G>A (n.3442-20705G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755575G>C | CA346815522 | LHCGR,STON1-GTF2A1L | c.97C>G (p.Pro33Ala) c.3442-20705G>C (n.3442-20705G>C) | |
2 | g.48755575G= | CA1248636759 | LHCGR,STON1-GTF2A1L | c.97C= (p.Pro33=) c.3442-20705G= (n.3442-20705G=) | |
2 | g.48755575G>T | CA346815523 | LHCGR,STON1-GTF2A1L | c.97C>A (p.Pro33Thr) c.3442-20705G>T (n.3442-20705G>T) | gnomAD v4 |
2 | g.48755575_48755590delinsGCTCAGGGCAGAGCGC | CA1248636758 | LHCGR,STON1-GTF2A1L | c.82_97delinsGCGCTCTGCCCTGAGC (p.Ala28=) c.3442-20705_3442-20690delinsGCTCAGGGCAGAGCGC (n.3442-20705_3442-20690delinsGCTCAGGGCAGAGCGC) | |
2 | g.48755576del | CA2658995087 | LHCGR,STON1-GTF2A1L | c.96del (p.Glu32AspfsTer?) c.3442-20704del (n.3442-20704del) | gnomAD v4 |
2 | g.48755576C>A | CA346815524 | LHCGR,STON1-GTF2A1L | c.96G>T (p.Glu32Asp) c.3442-20704C>A (n.3442-20704C>A) | gnomAD v4 |
2 | g.48755576C= | CA1248636760 | LHCGR,STON1-GTF2A1L | c.96G= (p.Glu32=) c.3442-20704C= (n.3442-20704C=) | |
2 | g.48755576C>G | CA346815525 | LHCGR,STON1-GTF2A1L | c.96G>C (p.Glu32Asp) c.3442-20704C>G (n.3442-20704C>G) | |
2 | g.48755576C>T | CA47295569 | LHCGR,STON1-GTF2A1L | c.96G>A (p.Glu32=) c.3442-20704C>T (n.3442-20704C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48755579_48755593del | CA769618111 | LHCGR,STON1-GTF2A1L | c.82_96del (p.Ala28_Glu32del) c.3442-20701_3442-20687del (n.3442-20701_3442-20687del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48755577T>A | CA346815528 | LHCGR,STON1-GTF2A1L | c.95A>T (p.Glu32Val) c.3442-20703T>A (n.3442-20703T>A) | |
2 | g.48755577T>C | CA346815527 | LHCGR,STON1-GTF2A1L | c.95A>G (p.Glu32Gly) c.3442-20703T>C (n.3442-20703T>C) | dbSNP gnomAD v4 |
2 | g.48755577T>G | CA346815526 | LHCGR,STON1-GTF2A1L | c.95A>C (p.Glu32Ala) c.3442-20703T>G (n.3442-20703T>G) | |
2 | g.48755578C>A | CA346815529 | LHCGR,STON1-GTF2A1L | c.94G>T (p.Glu32Ter) c.3442-20702C>A (n.3442-20702C>A) | |
2 | g.48755578C= | CA1248636761 | LHCGR,STON1-GTF2A1L | c.94G= (p.Glu32=) c.3442-20702C= (n.3442-20702C=) | |
2 | g.48755578C>G | CA346815530 | LHCGR,STON1-GTF2A1L | c.94G>C (p.Glu32Gln) c.3442-20702C>G (n.3442-20702C>G) | |
2 | g.48755578C>T | CA346815531 | LHCGR,STON1-GTF2A1L | c.94G>A (p.Glu32Lys) c.3442-20702C>T (n.3442-20702C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.48755579A= | CA1248636762 | LHCGR,STON1-GTF2A1L | c.93T= (p.Pro31=) c.3442-20701A= (n.3442-20701A=) | |
2 | g.48755579A>C | CA426095183 | LHCGR,STON1-GTF2A1L | c.93T>G (p.Pro31=) c.3442-20701A>C (n.3442-20701A>C) | |
2 | g.48755579A>G | CA426095184 | LHCGR,STON1-GTF2A1L | c.93T>C (p.Pro31=) c.3442-20701A>G (n.3442-20701A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48755579A>T | CA426095185 | LHCGR,STON1-GTF2A1L | c.93T>A (p.Pro31=) c.3442-20701A>T (n.3442-20701A>T) | |
2 | g.48755580G>A | CA346815532 | LHCGR,STON1-GTF2A1L | c.92C>T (p.Pro31Leu) c.3442-20700G>A (n.3442-20700G>A) | dbSNP gnomAD v4 |
2 | g.48755580G>C | CA47295570 | LHCGR,STON1-GTF2A1L | c.92C>G (p.Pro31Arg) c.3442-20700G>C (n.3442-20700G>C) | dbSNP gnomAD v4 |
2 | g.48755580G= | CA1248636763 | LHCGR,STON1-GTF2A1L | c.92C= (p.Pro31=) c.3442-20700G= (n.3442-20700G=) | |
2 | g.48755580G>T | CA346815533 | LHCGR,STON1-GTF2A1L | c.92C>A (p.Pro31His) c.3442-20700G>T (n.3442-20700G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755581G>A | CA346815536 | LHCGR,STON1-GTF2A1L | c.91C>T (p.Pro31Ser) c.3442-20699G>A (n.3442-20699G>A) | |
2 | g.48755581G>C | CA346815534 | LHCGR,STON1-GTF2A1L | c.91C>G (p.Pro31Ala) c.3442-20699G>C (n.3442-20699G>C) | |
2 | g.48755581G>T | CA346815535 | LHCGR,STON1-GTF2A1L | c.91C>A (p.Pro31Thr) c.3442-20699G>T (n.3442-20699G>T) | gnomAD v4 |
2 | g.48755582G>A | CA426095187 | LHCGR,STON1-GTF2A1L | c.90C>T (p.Cys30=) c.3442-20698G>A (n.3442-20698G>A) | gnomAD v4 |
2 | g.48755582G>C | CA346815537 | LHCGR,STON1-GTF2A1L | c.90C>G (p.Cys30Trp) c.3442-20698G>C (n.3442-20698G>C) | |
2 | g.48755582G>T | CA346815538 | LHCGR,STON1-GTF2A1L | c.90C>A (p.Cys30Ter) c.3442-20698G>T (n.3442-20698G>T) | gnomAD v4 |
2 | g.48755583C>A | CA346815539 | LHCGR,STON1-GTF2A1L | c.89G>T (p.Cys30Phe) c.3442-20697C>A (n.3442-20697C>A) | |
2 | g.48755583C>G | CA346815540 | LHCGR,STON1-GTF2A1L | c.89G>C (p.Cys30Ser) c.3442-20697C>G (n.3442-20697C>G) | |
2 | g.48755583C>T | CA346815541 | LHCGR,STON1-GTF2A1L | c.89G>A (p.Cys30Tyr) c.3442-20697C>T (n.3442-20697C>T) | gnomAD v4 |
2 | g.48755584A= | CA1248636764 | LHCGR,STON1-GTF2A1L | c.88T= (p.Cys30=) c.3442-20696A= (n.3442-20696A=) | |
2 | g.48755584A>C | CA346815544 | LHCGR,STON1-GTF2A1L | c.88T>G (p.Cys30Gly) c.3442-20696A>C (n.3442-20696A>C) | |
2 | g.48755584A>G | CA346815542 | LHCGR,STON1-GTF2A1L | c.88T>C (p.Cys30Arg) c.3442-20696A>G (n.3442-20696A>G) | dbSNP gnomAD v2 |
2 | g.48755584A>T | CA346815543 | LHCGR,STON1-GTF2A1L | c.88T>A (p.Cys30Ser) c.3442-20696A>T (n.3442-20696A>T) | |
2 | g.48755585G>A | CA426095188 | LHCGR,STON1-GTF2A1L | c.87C>T (p.Leu29=) c.3442-20695G>A (n.3442-20695G>A) | |
2 | g.48755585G>C | CA426095189 | LHCGR,STON1-GTF2A1L | c.87C>G (p.Leu29=) c.3442-20695G>C (n.3442-20695G>C) | |
2 | g.48755585G>T | CA426095190 | LHCGR,STON1-GTF2A1L | c.87C>A (p.Leu29=) c.3442-20695G>T (n.3442-20695G>T) | gnomAD v4 |
2 | g.48755585_48755597delinsGAGCGCCTCGCGC | CA1248636765 | LHCGR,STON1-GTF2A1L | c.75_87delinsGCGCGAGGCGCTC (p.Leu25=) c.3442-20695_3442-20683delinsGAGCGCCTCGCGC (n.3442-20695_3442-20683delinsGAGCGCCTCGCGC) | |
2 | g.48755586A>C | CA346815545 | LHCGR,STON1-GTF2A1L | c.86T>G (p.Leu29Arg) c.3442-20694A>C (n.3442-20694A>C) | |
2 | g.48755586A>G | CA346815546 | LHCGR,STON1-GTF2A1L | c.86T>C (p.Leu29Pro) c.3442-20694A>G (n.3442-20694A>G) | |
2 | g.48755586A>T | CA346815547 | LHCGR,STON1-GTF2A1L | c.86T>A (p.Leu29His) c.3442-20694A>T (n.3442-20694A>T) | |
2 | g.48755591_48755602del | CA532559202 | LHCGR,STON1-GTF2A1L | c.75_86del (p.Arg26_Leu29del) c.3442-20689_3442-20678del (n.3442-20689_3442-20678del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755587G>A | CA346815548 | LHCGR,STON1-GTF2A1L | c.85C>T (p.Leu29Phe) c.3442-20693G>A (n.3442-20693G>A) | gnomAD v4 |
2 | g.48755587G>C | CA346815549 | LHCGR,STON1-GTF2A1L | c.85C>G (p.Leu29Val) c.3442-20693G>C (n.3442-20693G>C) | |
2 | g.48755587G>T | CA346815550 | LHCGR,STON1-GTF2A1L | c.85C>A (p.Leu29Ile) c.3442-20693G>T (n.3442-20693G>T) | gnomAD v4 |
2 | g.48755588C>A | CA426095192 | LHCGR,STON1-GTF2A1L | c.84G>T (p.Ala28=) c.3442-20692C>A (n.3442-20692C>A) | gnomAD v4 |
2 | g.48755588C>G | CA426095193 | LHCGR,STON1-GTF2A1L | c.84G>C (p.Ala28=) c.3442-20692C>G (n.3442-20692C>G) | gnomAD v4 |
2 | g.48755588C>T | CA426095194 | LHCGR,STON1-GTF2A1L | c.84G>A (p.Ala28=) c.3442-20692C>T (n.3442-20692C>T) | gnomAD v4 |
2 | g.48755589G>A | CA346815551 | LHCGR,STON1-GTF2A1L | c.83C>T (p.Ala28Val) c.3442-20691G>A (n.3442-20691G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.48755589G>C | CA346815552 | LHCGR,STON1-GTF2A1L | c.83C>G (p.Ala28Gly) c.3442-20691G>C (n.3442-20691G>C) | dbSNP gnomAD v4 |
2 | g.48755589G= | CA1248636766 | LHCGR,STON1-GTF2A1L | c.83C= (p.Ala28=) c.3442-20691G= (n.3442-20691G=) | |
2 | g.48755589G>T | CA346815553 | LHCGR,STON1-GTF2A1L | c.83C>A (p.Ala28Glu) c.3442-20691G>T (n.3442-20691G>T) | gnomAD v4 |
2 | g.48755590C>A | CA346815554 | LHCGR,STON1-GTF2A1L | c.82G>T (p.Ala28Ser) c.3442-20690C>A (n.3442-20690C>A) | gnomAD v4 |
2 | g.48755590C>G | CA346815555 | LHCGR,STON1-GTF2A1L | c.82G>C (p.Ala28Pro) c.3442-20690C>G (n.3442-20690C>G) | |
2 | g.48755590C>T | CA346815556 | LHCGR,STON1-GTF2A1L | c.82G>A (p.Ala28Thr) c.3442-20690C>T (n.3442-20690C>T) | |
2 | g.48755591C>A | CA346815557 | LHCGR,STON1-GTF2A1L | c.81G>T (p.Glu27Asp) c.3442-20689C>A (n.3442-20689C>A) | COSMIC |
2 | g.48755591C= | CA1248636767 | LHCGR,STON1-GTF2A1L | c.81G= (p.Glu27=) c.3442-20689C= (n.3442-20689C=) | |
2 | g.48755591C>G | CA346815558 | LHCGR,STON1-GTF2A1L | c.81G>C (p.Glu27Asp) c.3442-20689C>G (n.3442-20689C>G) | |
2 | g.48755591C>T | CA1653488 | LHCGR,STON1-GTF2A1L | c.81G>A (p.Glu27=) c.3442-20689C>T (n.3442-20689C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755592T>A | CA346815559 | LHCGR,STON1-GTF2A1L | c.80A>T (p.Glu27Val) c.3442-20688T>A (n.3442-20688T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755592T>C | CA346815560 | LHCGR,STON1-GTF2A1L | c.80A>G (p.Glu27Gly) c.3442-20688T>C (n.3442-20688T>C) | gnomAD v4 |
2 | g.48755592T>G | CA346815561 | LHCGR,STON1-GTF2A1L | c.80A>C (p.Glu27Ala) c.3442-20688T>G (n.3442-20688T>G) | |
2 | g.48755592T= | CA1248636768 | LHCGR,STON1-GTF2A1L | c.80A= (p.Glu27=) c.3442-20688T= (n.3442-20688T=) | |
2 | g.48755593C>A | CA346815562 | LHCGR,STON1-GTF2A1L | c.79G>T (p.Glu27Ter) c.3442-20687C>A (n.3442-20687C>A) | |
2 | g.48755593C= | CA1248636769 | LHCGR,STON1-GTF2A1L | c.79G= (p.Glu27=) c.3442-20687C= (n.3442-20687C=) | |
2 | g.48755593C>G | CA346815563 | LHCGR,STON1-GTF2A1L | c.79G>C (p.Glu27Gln) c.3442-20687C>G (n.3442-20687C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755593C>T | CA47295571 | LHCGR,STON1-GTF2A1L | c.79G>A (p.Glu27Lys) c.3442-20687C>T (n.3442-20687C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.48755594G>A | CA426095195 | LHCGR,STON1-GTF2A1L | c.78C>T (p.Arg26=) c.3442-20686G>A (n.3442-20686G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755594G>C | CA426095196 | LHCGR,STON1-GTF2A1L | c.78C>G (p.Arg26=) c.3442-20686G>C (n.3442-20686G>C) | dbSNP |
2 | g.48755594G= | CA1248636770 | LHCGR,STON1-GTF2A1L | c.78C= (p.Arg26=) c.3442-20686G= (n.3442-20686G=) | |
2 | g.48755594G>T | CA426095197 | LHCGR,STON1-GTF2A1L | c.78C>A (p.Arg26=) c.3442-20686G>T (n.3442-20686G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755595C>A | CA346815564 | LHCGR,STON1-GTF2A1L | c.77G>T (p.Arg26Leu) c.3442-20685C>A (n.3442-20685C>A) | dbSNP gnomAD v4 |
2 | g.48755595C= | CA1248636771 | LHCGR,STON1-GTF2A1L | c.77G= (p.Arg26=) c.3442-20685C= (n.3442-20685C=) | |
2 | g.48755595C>G | CA346815565 | LHCGR,STON1-GTF2A1L | c.77G>C (p.Arg26Pro) c.3442-20685C>G (n.3442-20685C>G) | |
2 | g.48755595C>T | CA346815566 | LHCGR,STON1-GTF2A1L | c.77G>A (p.Arg26His) c.3442-20685C>T (n.3442-20685C>T) | gnomAD v4 |
2 | g.48755596G>A | CA346815567 | LHCGR,STON1-GTF2A1L | c.76C>T (p.Arg26Cys) c.3442-20684G>A (n.3442-20684G>A) | gnomAD v4 COSMIC |
2 | g.48755596G>C | CA346815568 | LHCGR,STON1-GTF2A1L | c.76C>G (p.Arg26Gly) c.3442-20684G>C (n.3442-20684G>C) | gnomAD v4 |
2 | g.48755596G= | CA1248636772 | LHCGR,STON1-GTF2A1L | c.76C= (p.Arg26=) c.3442-20684G= (n.3442-20684G=) | |
2 | g.48755596G>T | CA346815569 | LHCGR,STON1-GTF2A1L | c.76C>A (p.Arg26Ser) c.3442-20684G>T (n.3442-20684G>T) | dbSNP gnomAD v4 |
2 | g.48755597C>A | CA426095198 | LHCGR,STON1-GTF2A1L | c.75G>T (p.Leu25=) c.3442-20683C>A (n.3442-20683C>A) | gnomAD v4 |
2 | g.48755597C>G | CA426095200 | LHCGR,STON1-GTF2A1L | c.75G>C (p.Leu25=) c.3442-20683C>G (n.3442-20683C>G) | |
2 | g.48755597C>T | CA426095199 | LHCGR,STON1-GTF2A1L | c.75G>A (p.Leu25=) c.3442-20683C>T (n.3442-20683C>T) | |
2 | g.48755598del | CA2576963765 | LHCGR,STON1-GTF2A1L | c.74del (p.Leu25ArgfsTer?) c.3442-20682del (n.3442-20682del) | |
2 | g.48755598A= | CA1248636773 | LHCGR,STON1-GTF2A1L | c.74T= (p.Leu25=) c.3442-20682A= (n.3442-20682A=) | |
2 | g.48755598A>C | CA47295572 | LHCGR,STON1-GTF2A1L | c.74T>G (p.Leu25Arg) c.3442-20682A>C (n.3442-20682A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48755598A>G | CA346815570 | LHCGR,STON1-GTF2A1L | c.74T>C (p.Leu25Pro) c.3442-20682A>G (n.3442-20682A>G) | dbSNP gnomAD v4 |
2 | g.48755598A>T | CA346815571 | LHCGR,STON1-GTF2A1L | c.74T>A (p.Leu25Gln) c.3442-20682A>T (n.3442-20682A>T) | |
2 | g.48755599G>A | CA426095201 | LHCGR,STON1-GTF2A1L | c.73C>T (p.Leu25=) c.3442-20681G>A (n.3442-20681G>A) | |
2 | g.48755599G>C | CA346815572 | LHCGR,STON1-GTF2A1L | c.73C>G (p.Leu25Val) c.3442-20681G>C (n.3442-20681G>C) | |
2 | g.48755599G>T | CA346815573 | LHCGR,STON1-GTF2A1L | c.73C>A (p.Leu25Met) c.3442-20681G>T (n.3442-20681G>T) | gnomAD v4 |
2 | g.48755600C>A | CA426095202 | LHCGR,STON1-GTF2A1L | c.72G>T (p.Ala24=) c.3442-20680C>A (n.3442-20680C>A) | gnomAD v4 |
2 | g.48755600C>G | CA426095203 | LHCGR,STON1-GTF2A1L | c.72G>C (p.Ala24=) c.3442-20680C>G (n.3442-20680C>G) | |
2 | g.48755600C>T | CA426095204 | LHCGR,STON1-GTF2A1L | c.72G>A (p.Ala24=) c.3442-20680C>T (n.3442-20680C>T) | gnomAD v4 |
2 | g.48755601G>A | CA346815574 | LHCGR,STON1-GTF2A1L | c.71C>T (p.Ala24Val) c.3442-20679G>A (n.3442-20679G>A) | gnomAD v4 |
2 | g.48755601G>C | CA346815575 | LHCGR,STON1-GTF2A1L | c.71C>G (p.Ala24Gly) c.3442-20679G>C (n.3442-20679G>C) | gnomAD v4 |
2 | g.48755601G>T | CA346815576 | LHCGR,STON1-GTF2A1L | c.71C>A (p.Ala24Glu) c.3442-20679G>T (n.3442-20679G>T) | gnomAD v4 |
2 | g.48755602C>A | CA346815577 | LHCGR,STON1-GTF2A1L | c.70G>T (p.Ala24Ser) c.3442-20678C>A (n.3442-20678C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755602C= | CA1248636774 | LHCGR,STON1-GTF2A1L | c.70G= (p.Ala24=) c.3442-20678C= (n.3442-20678C=) | |
2 | g.48755602C>G | CA346815578 | LHCGR,STON1-GTF2A1L | c.70G>C (p.Ala24Pro) c.3442-20678C>G (n.3442-20678C>G) | |
2 | g.48755602C>T | CA346815579 | LHCGR,STON1-GTF2A1L | c.70G>A (p.Ala24Thr) c.3442-20678C>T (n.3442-20678C>T) | gnomAD v4 |
2 | g.48755603T>A | CA426095205 | LHCGR,STON1-GTF2A1L | c.69A>T (p.Arg23=) c.3442-20677T>A (n.3442-20677T>A) | gnomAD v4 |
2 | g.48755603T>C | CA1653489 | LHCGR,STON1-GTF2A1L | c.69A>G (p.Arg23=) c.3442-20677T>C (n.3442-20677T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48755603T>G | CA426095206 | LHCGR,STON1-GTF2A1L | c.69A>C (p.Arg23=) c.3442-20677T>G (n.3442-20677T>G) | |
2 | g.48755603T= | CA1248636775 | LHCGR,STON1-GTF2A1L | c.69A= (p.Arg23=) c.3442-20677T= (n.3442-20677T=) | |
2 | g.48755604C>A | CA346815580 | LHCGR,STON1-GTF2A1L | c.68G>T (p.Arg23Leu) c.3442-20676C>A (n.3442-20676C>A) | gnomAD v4 |
2 | g.48755604C>G | CA346815581 | LHCGR,STON1-GTF2A1L | c.68G>C (p.Arg23Pro) c.3442-20676C>G (n.3442-20676C>G) | gnomAD v4 |
2 | g.48755604C>T | CA346815582 | LHCGR,STON1-GTF2A1L | c.68G>A (p.Arg23Gln) c.3442-20676C>T (n.3442-20676C>T) | gnomAD v4 |
2 | g.48755606_48755655del | CA2740272290 | LHCGR,STON1-GTF2A1L | c.19_68del (p.Ala7SerfsTer9) c.3442-20674_3442-20625del (n.3442-20674_3442-20625del) | |
2 | g.48755605G>A | CA346815583 | LHCGR,STON1-GTF2A1L | c.67C>T (p.Arg23Ter) c.3442-20675G>A (n.3442-20675G>A) | gnomAD v4 |
2 | g.48755605G>C | CA47295573 | LHCGR,STON1-GTF2A1L | c.67C>G (p.Arg23Gly) c.3442-20675G>C (n.3442-20675G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755605G= | CA1248636776 | LHCGR,STON1-GTF2A1L | c.67C= (p.Arg23=) c.3442-20675G= (n.3442-20675G=) | |
2 | g.48755605G>T | CA426095207 | LHCGR,STON1-GTF2A1L | c.67C>A (p.Arg23=) c.3442-20675G>T (n.3442-20675G>T) | gnomAD v4 |
2 | g.48755606_48755626dup | CA2658995088 | LHCGR,STON1-GTF2A1L | c.47_67dup (p.Pro22_Arg23insLeuLeuGlnProProLeuPro) c.3442-20674_3442-20654dup (n.3442-20674_3442-20654dup) | gnomAD v4 |
2 | g.48755606T>A | CA426095210 | LHCGR,STON1-GTF2A1L | c.66A>T (p.Pro22=) c.3442-20674T>A (n.3442-20674T>A) | |
2 | g.48755606T>C | CA426095209 | LHCGR,STON1-GTF2A1L | c.66A>G (p.Pro22=) c.3442-20674T>C (n.3442-20674T>C) | dbSNP |
2 | g.48755606T>G | CA426095208 | LHCGR,STON1-GTF2A1L | c.66A>C (p.Pro22=) c.3442-20674T>G (n.3442-20674T>G) | |
2 | g.48755606T= | CA1248636777 | LHCGR,STON1-GTF2A1L | c.66A= (p.Pro22=) c.3442-20674T= (n.3442-20674T=) | |
2 | g.48755606_48755621delinsTGGCAGCGGCGGCTGC | CA1248636778 | LHCGR,STON1-GTF2A1L | c.51_66delinsGCAGCCGCCGCTGCCA (p.Leu17=) c.3442-20674_3442-20659delinsTGGCAGCGGCGGCTGC (n.3442-20674_3442-20659delinsTGGCAGCGGCGGCTGC) | |
2 | g.48755607G>A | CA346815584 | LHCGR,STON1-GTF2A1L | c.65C>T (p.Pro22Leu) c.3442-20673G>A (n.3442-20673G>A) | |
2 | g.48755607G>C | CA346815586 | LHCGR,STON1-GTF2A1L | c.65C>G (p.Pro22Arg) c.3442-20673G>C (n.3442-20673G>C) | gnomAD v4 |
2 | g.48755607G>T | CA346815585 | LHCGR,STON1-GTF2A1L | c.65C>A (p.Pro22Gln) c.3442-20673G>T (n.3442-20673G>T) | gnomAD v4 |
2 | g.48755607_48755621del | CA1030381818 | LHCGR,STON1-GTF2A1L | c.51_65del (p.Gln18_Pro22del) c.3442-20673_3442-20659del (n.3442-20673_3442-20659del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48755608G>A | CA346815587 | LHCGR,STON1-GTF2A1L | c.64C>T (p.Pro22Ser) c.3442-20672G>A (n.3442-20672G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48755608G>C | CA346815589 | LHCGR,STON1-GTF2A1L | c.64C>G (p.Pro22Ala) c.3442-20672G>C (n.3442-20672G>C) | |
2 | g.48755608G= | CA1248636779 | LHCGR,STON1-GTF2A1L | c.64C= (p.Pro22=) c.3442-20672G= (n.3442-20672G=) | |
2 | g.48755608G>T | CA346815588 | LHCGR,STON1-GTF2A1L | c.64C>A (p.Pro22Thr) c.3442-20672G>T (n.3442-20672G>T) | gnomAD v4 |
2 | g.48755613_48755633dup | CA2658995089 | LHCGR,STON1-GTF2A1L | c.44_64dup (p.Leu21_Pro22insLeuLeuLeuGlnProProLeu) c.3442-20667_3442-20647dup (n.3442-20667_3442-20647dup) | gnomAD v4 |
2 | g.48755609C>A | CA426095211 | LHCGR,STON1-GTF2A1L | c.63G>T (p.Leu21=) c.3442-20671C>A (n.3442-20671C>A) | gnomAD v4 |
2 | g.48755609C= | CA1248636780 | LHCGR,STON1-GTF2A1L | c.63G= (p.Leu21=) c.3442-20671C= (n.3442-20671C=) | |
2 | g.48755609C>G | CA426095212 | LHCGR,STON1-GTF2A1L | c.63G>C (p.Leu21=) c.3442-20671C>G (n.3442-20671C>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755609C>T | CA1653490 | LHCGR,STON1-GTF2A1L | c.63G>A (p.Leu21=) c.3442-20671C>T (n.3442-20671C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755610A>C | CA346815590 | LHCGR,STON1-GTF2A1L | c.62T>G (p.Leu21Arg) c.3442-20670A>C (n.3442-20670A>C) | |
2 | g.48755610A>G | CA346815591 | LHCGR,STON1-GTF2A1L | c.62T>C (p.Leu21Pro) c.3442-20670A>G (n.3442-20670A>G) | |
2 | g.48755610A>T | CA346815592 | LHCGR,STON1-GTF2A1L | c.62T>A (p.Leu21Gln) c.3442-20670A>T (n.3442-20670A>T) | |
2 | g.48755611G>A | CA426095213 | LHCGR,STON1-GTF2A1L | c.61C>T (p.Leu21=) c.3442-20669G>A (n.3442-20669G>A) | |
2 | g.48755611G>C | CA346815593 | LHCGR,STON1-GTF2A1L | c.61C>G (p.Leu21Val) c.3442-20669G>C (n.3442-20669G>C) | |
2 | g.48755611G>T | CA346815594 | LHCGR,STON1-GTF2A1L | c.61C>A (p.Leu21Met) c.3442-20669G>T (n.3442-20669G>T) | |
2 | g.48755616_48755618del | CA2658995091 | LHCGR,STON1-GTF2A1L | c.59_61del (p.Pro20del) c.3442-20664_3442-20662del (n.3442-20664_3442-20662del) | gnomAD v4 |
2 | g.48755613_48755621dup | CA2658995090 | LHCGR,STON1-GTF2A1L | c.53_61dup (p.Pro20_Leu21insGlnProPro) c.3442-20667_3442-20659dup (n.3442-20667_3442-20659dup) | gnomAD v4 |
2 | g.48755611_48755638delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT | CA1248636781 | LHCGR,STON1-GTF2A1L | c.34_61delinsAAGCTGCTGCTGCTGCTGCAGCCGCCGC (p.Lys12=) c.3442-20669_3442-20642delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT (n.3442-20669_3442-20642delinsGCGGCGGCTGCAGCAGCAGCAGCAGCTT) | |
2 | g.48755612C>A | CA426095214 | LHCGR,STON1-GTF2A1L | c.60G>T (p.Pro20=) c.3442-20668C>A (n.3442-20668C>A) | |
2 | g.48755612C>G | CA426095215 | LHCGR,STON1-GTF2A1L | c.60G>C (p.Pro20=) c.3442-20668C>G (n.3442-20668C>G) | |
2 | g.48755612C>T | CA426095216 | LHCGR,STON1-GTF2A1L | c.60G>A (p.Pro20=) c.3442-20668C>T (n.3442-20668C>T) | gnomAD v4 |
2 | g.48755613_48755639dup | CA1248636782 | LHCGR,STON1-GTF2A1L | c.34_60dup (p.Pro20_Leu21insLysLeuLeuLeuLeuLeuGlnProPro) c.3442-20667_3442-20641dup (n.3442-20667_3442-20641dup) | dbSNP gnomAD v4 |
2 | g.48755613_48755639del | CA532559288 | LHCGR,STON1-GTF2A1L | c.34_60del (p.Lys12_Pro20del) c.3442-20667_3442-20641del (n.3442-20667_3442-20641del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755613G>A | CA346815595 | LHCGR,STON1-GTF2A1L | c.59C>T (p.Pro20Leu) c.3442-20667G>A (n.3442-20667G>A) | dbSNP gnomAD v4 |
2 | g.48755613G>C | CA346815596 | LHCGR,STON1-GTF2A1L | c.59C>G (p.Pro20Arg) c.3442-20667G>C (n.3442-20667G>C) | |
2 | g.48755613G= | CA1248636783 | LHCGR,STON1-GTF2A1L | c.59C= (p.Pro20=) c.3442-20667G= (n.3442-20667G=) | |
2 | g.48755613G>T | CA346815597 | LHCGR,STON1-GTF2A1L | c.59C>A (p.Pro20Gln) c.3442-20667G>T (n.3442-20667G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.48755613_48755631delinsGGCGGCTGCAGCAGCAGCA | CA1248636784 | LHCGR,STON1-GTF2A1L | c.41_59delinsTGCTGCTGCTGCAGCCGCC (p.Leu14=) c.3442-20667_3442-20649delinsGGCGGCTGCAGCAGCAGCA (n.3442-20667_3442-20649delinsGGCGGCTGCAGCAGCAGCA) | |
2 | g.48755613_48755614insACGGCT | CA532559290 | LHCGR,STON1-GTF2A1L | c.58_59insAGCCGT (p.Pro20delinsGlnProSer) c.3442-20667_3442-20666insACGGCT (n.3442-20667_3442-20666insACGGCT) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755614G>A | CA346815598 | LHCGR,STON1-GTF2A1L | c.58C>T (p.Pro20Ser) c.3442-20666G>A (n.3442-20666G>A) | |
2 | g.48755614G>C | CA346815599 | LHCGR,STON1-GTF2A1L | c.58C>G (p.Pro20Ala) c.3442-20666G>C (n.3442-20666G>C) | |
2 | g.48755614G>T | CA346815600 | LHCGR,STON1-GTF2A1L | c.58C>A (p.Pro20Thr) c.3442-20666G>T (n.3442-20666G>T) | gnomAD v4 |
2 | g.48755616_48755633del | CA532559289 | LHCGR,STON1-GTF2A1L | c.41_58del (p.Leu14_Pro19del) c.3442-20664_3442-20647del (n.3442-20664_3442-20647del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755616_48755642dup | CA532559291 | LHCGR,STON1-GTF2A1L | c.32_58dup (p.Pro19_Pro20insLeuLysLeuLeuLeuLeuLeuGlnPro) c.3442-20664_3442-20638dup (n.3442-20664_3442-20638dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755616_48755642del | CA2658995093 | LHCGR,STON1-GTF2A1L | c.32_58del (p.Leu11_Pro19del) c.3442-20664_3442-20638del (n.3442-20664_3442-20638del) | gnomAD v4 |
2 | g.48755616_48755648dup | CA2658995092 | LHCGR,STON1-GTF2A1L | c.26_58dup (p.Pro19_Pro20insGlnLeuLeuLysLeuLeuLeuLeuLeuGlnPro) c.3442-20664_3442-20632dup (n.3442-20664_3442-20632dup) | gnomAD v4 |
2 | g.48755615C>A | CA426095217 | LHCGR,STON1-GTF2A1L | c.57G>T (p.Pro19=) c.3442-20665C>A (n.3442-20665C>A) | |
2 | g.48755615C>G | CA426095218 | LHCGR,STON1-GTF2A1L | c.57G>C (p.Pro19=) c.3442-20665C>G (n.3442-20665C>G) | |
2 | g.48755615C>T | CA426095219 | LHCGR,STON1-GTF2A1L | c.57G>A (p.Pro19=) c.3442-20665C>T (n.3442-20665C>T) | gnomAD v4 |
2 | g.48755615_48755616insT | CA2658995094 | LHCGR,STON1-GTF2A1L | c.56_57insA (p.Pro20AlafsTer13) c.3442-20665_3442-20664insT (n.3442-20665_3442-20664insT) | gnomAD v4 |
2 | g.48755616G>A | CA47295574 | LHCGR,STON1-GTF2A1L | c.56C>T (p.Pro19Leu) c.3442-20664G>A (n.3442-20664G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755616G>C | CA346815602 | LHCGR,STON1-GTF2A1L | c.56C>G (p.Pro19Arg) c.3442-20664G>C (n.3442-20664G>C) | |
2 | g.48755616G= | CA1248636785 | LHCGR,STON1-GTF2A1L | c.56C= (p.Pro19=) c.3442-20664G= (n.3442-20664G=) | |
2 | g.48755616G>T | CA346815601 | LHCGR,STON1-GTF2A1L | c.56C>A (p.Pro19Gln) c.3442-20664G>T (n.3442-20664G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755616_48755617del | CA2658995095 | LHCGR,STON1-GTF2A1L | c.55_56del (p.Pro19AlafsTer13) c.3442-20664_3442-20663del (n.3442-20664_3442-20663del) | gnomAD v4 |
2 | g.48755616_48755622delinsGGCTGCA | CA2742038435 | LHCGR,STON1-GTF2A1L | c.50_56delinsTGCAGCC (p.Leu17=) c.3442-20664_3442-20658delinsGGCTGCA (n.3442-20664_3442-20658delinsGGCTGCA) | |
2 | g.48755616_48755617insACTGCA | CA2658995100 | LHCGR,STON1-GTF2A1L | c.55_56insTGCAGT (p.Pro19delinsLeuGlnSer) c.3442-20664_3442-20663insACTGCA (n.3442-20664_3442-20663insACTGCA) | gnomAD v4 |
2 | g.48755617G>A | CA346815603 | LHCGR,STON1-GTF2A1L | c.55C>T (p.Pro19Ser) c.3442-20663G>A (n.3442-20663G>A) | COSMIC |
2 | g.48755617G>C | CA346815604 | LHCGR,STON1-GTF2A1L | c.55C>G (p.Pro19Ala) c.3442-20663G>C (n.3442-20663G>C) | gnomAD v4 |
2 | g.48755617G= | CA1248636786 | LHCGR,STON1-GTF2A1L | c.55C= (p.Pro19=) c.3442-20663G= (n.3442-20663G=) | |
2 | g.48755617G>T | CA346815605 | LHCGR,STON1-GTF2A1L | c.55C>A (p.Pro19Thr) c.3442-20663G>T (n.3442-20663G>T) | gnomAD v4 |
2 | g.48755617_48755618insATGCAG | CA2749837903 | LHCGR,STON1-GTF2A1L | c.55_56insTGCATC (p.Gln18_Pro19insLeuHis) c.3442-20663_3442-20662insATGCAG (n.3442-20663_3442-20662insATGCAG) | |
2 | g.48755618_48755619insGGCAGC | CA2586969547 | LHCGR,STON1-GTF2A1L | c.55_56insTGCCGC (p.Gln18_Pro19insLeuPro) c.3442-20662_3442-20661insGGCAGC (n.3442-20662_3442-20661insGGCAGC) | |
2 | g.48755621_48755622insGGCTGCAGCTGC | CA769618265 | LHCGR,STON1-GTF2A1L | c.55_56insTGCAGCCGCAGC (p.Gln18_Pro19insLeuGlnProGln) c.3442-20659_3442-20658insGGCTGCAGCTGC (n.3442-20659_3442-20658insGGCTGCAGCTGC) | dbSNP gnomAD v4 |
2 | g.48755624_48755625insTGCAGCGGCGGCTGCAGCTGCAGC | CA769618269 | LHCGR,STON1-GTF2A1L | c.55_56insTGCAGCCGCCGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCGGCGGCTGCAGCTGCAGC) | dbSNP gnomAD v4 |
2 | g.48755624_48755625insTGCAGCAGCAGCGGCTGCAGCTGCAGC | CA1030381844 | LHCGR,STON1-GTF2A1L | c.55_56insTGCAGCCGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCGGCTGCAGCTGCAGC) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48755624_48755625insTGCAGCAGCGGCGGCTGCAGCTGCAGC | CA2658995096 | LHCGR,STON1-GTF2A1L | c.55_56insTGCAGCCGCCGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCGGCGGCTGCAGCTGCAGC) | gnomAD v4 |
2 | g.48755624_48755625insTGCAGCAGCAGCAGCGGCTGCAGCTGCAGC | CA2749837902 | LHCGR,STON1-GTF2A1L | c.55_56insTGCAGCCGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCGGCTGCAGCTGCAGC) | |
2 | g.48755624_48755625insTGCAGCAGCAGCGGCGGCTGCAGCTGCAGC | CA1653492 | LHCGR,STON1-GTF2A1L | c.55_56insTGCAGCCGCCGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCGGCGGCTGCAGCTGCAGC) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.48755624_48755625insTGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC | CA532559292 | LHCGR,STON1-GTF2A1L | c.55_56insTGCAGCCGCCGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC | CA532559293 | LHCGR,STON1-GTF2A1L | c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755624_48755625insTGCAGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC | CA2658995099 | LHCGR,STON1-GTF2A1L | c.55_56insTGCAGCCGCCGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLeuLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCGGCGGCTGCAGCTGCAGC) | gnomAD v4 |
2 | g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGTAGCTGCAGC | CA2658995098 | LHCGR,STON1-GTF2A1L | c.55_56insTACAGCTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGTAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGTAGCTGCAGC) | gnomAD v4 |
2 | g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC | CA2658995097 | LHCGR,STON1-GTF2A1L | c.55_56insTGCAGCCGCCGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuGlnProProLysLeuLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCGGCGGCTGCAGCTGCAGC) | gnomAD v4 |
2 | g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC | CA1030381847 | LHCGR,STON1-GTF2A1L | c.55_56insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCTGAAGCTGCTGCTGCTGCTGCAGCTGCAGC (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGlnLeuLeuLysLeuLeuLeuLeuLeuGlnLeuGln) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGCAGCAGCAGCAGCTTCAGCAGCTGCAGC) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48755619_48755624dup | CA1653491 | LHCGR,STON1-GTF2A1L | c.50_55dup (p.Gln18_Pro19insLeuGln) c.3442-20661_3442-20656dup (n.3442-20661_3442-20656dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.48755619_48755624del | CA2699074169 | LHCGR,STON1-GTF2A1L | c.50_55del (p.Leu17_Gln18del) c.3442-20661_3442-20656del (n.3442-20661_3442-20656del) | dbSNP |
2 | g.48755619_48755627dup | CA1248636787 | LHCGR,STON1-GTF2A1L | c.47_55dup (p.Gln18_Pro19insLeuLeuGln) c.3442-20661_3442-20653dup (n.3442-20661_3442-20653dup) | dbSNP |
2 | g.48755625_48755651dup | CA1030381849 | LHCGR,STON1-GTF2A1L | c.29_55dup (p.Gln18_Pro19insLeuLeuLysLeuLeuLeuLeuLeuGln) c.3442-20655_3442-20629dup (n.3442-20655_3442-20629dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48755625_48755651del | CA2586969548 | LHCGR,STON1-GTF2A1L | c.29_55del (p.Leu10_Gln18del) c.3442-20655_3442-20629del (n.3442-20655_3442-20629del) | gnomAD v4 |
2 | g.48755617_48755618insGCTGCA | CA47295575 | LHCGR,STON1-GTF2A1L | c.54_55insTGCAGC (p.Gln18_Pro19insCysSer) c.3442-20663_3442-20662insGCTGCA (n.3442-20663_3442-20662insGCTGCA) | dbSNP |
2 | g.48755618C>A | CA346815606 | LHCGR,STON1-GTF2A1L | c.54G>T (p.Gln18His) c.3442-20662C>A (n.3442-20662C>A) | gnomAD v4 |
2 | g.48755618C= | CA1248636788 | LHCGR,STON1-GTF2A1L | c.54G= (p.Gln18=) c.3442-20662C= (n.3442-20662C=) | |
2 | g.48755618C>G | CA346815607 | LHCGR,STON1-GTF2A1L | c.54G>C (p.Gln18His) c.3442-20662C>G (n.3442-20662C>G) | dbSNP |
2 | g.48755618C>T | CA1653493 | LHCGR,STON1-GTF2A1L | c.54G>A (p.Gln18=) c.3442-20662C>T (n.3442-20662C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755622_48755623insTCTGCA | CA769618283 | LHCGR,STON1-GTF2A1L | c.54_55insATGCAG (p.Gln18_Pro19insMetGln) c.3442-20658_3442-20657insTCTGCA (n.3442-20658_3442-20657insTCTGCA) | dbSNP |
2 | g.48755619T>A | CA346815610 | LHCGR,STON1-GTF2A1L | c.53A>T (p.Gln18Leu) c.3442-20661T>A (n.3442-20661T>A) | gnomAD v4 |
2 | g.48755619T>C | CA346815609 | LHCGR,STON1-GTF2A1L | c.53A>G (p.Gln18Arg) c.3442-20661T>C (n.3442-20661T>C) | |
2 | g.48755619T>G | CA346815608 | LHCGR,STON1-GTF2A1L | c.53A>C (p.Gln18Pro) c.3442-20661T>G (n.3442-20661T>G) | |
2 | g.48755619T= | CA1248636789 | LHCGR,STON1-GTF2A1L | c.53A= (p.Gln18=) c.3442-20661T= (n.3442-20661T=) | |
2 | g.48755619_48755622delinsTGCA | CA1248636790 | LHCGR,STON1-GTF2A1L | c.50_53delinsTGCA (p.Leu17=) c.3442-20661_3442-20658delinsTGCA (n.3442-20661_3442-20658delinsTGCA) | |
2 | g.48755623_48755624insATGCAG | CA2699222466 | LHCGR,STON1-GTF2A1L | c.53_54insTCTGCA (p.Leu17_Gln18insHisLeu) c.3442-20657_3442-20656insATGCAG (n.3442-20657_3442-20656insATGCAG) | dbSNP |
2 | g.48755619_48755640delinsTGCAGCAGCAGCAGCAGCTTCA | CA1248636791 | LHCGR,STON1-GTF2A1L | c.32_53delinsTGAAGCTGCTGCTGCTGCTGCA (p.Leu11=) c.3442-20661_3442-20640delinsTGCAGCAGCAGCAGCAGCTTCA (n.3442-20661_3442-20640delinsTGCAGCAGCAGCAGCAGCTTCA) | |
2 | g.48755619_48755620insTGCAGC | CA47295576 | LHCGR,STON1-GTF2A1L | c.52_53insGCTGCA (p.Gln18delinsArgCysLys) c.3442-20661_3442-20660insTGCAGC (n.3442-20661_3442-20660insTGCAGC) | dbSNP |
2 | g.48755620G>A | CA346815613 | LHCGR,STON1-GTF2A1L | c.52C>T (p.Gln18Ter) c.3442-20660G>A (n.3442-20660G>A) | gnomAD v4 |
2 | g.48755620G>C | CA346815612 | LHCGR,STON1-GTF2A1L | c.52C>G (p.Gln18Glu) c.3442-20660G>C (n.3442-20660G>C) | |
2 | g.48755620G= | CA1248636792 | LHCGR,STON1-GTF2A1L | c.52C= (p.Gln18=) c.3442-20660G= (n.3442-20660G=) | |
2 | g.48755620G>T | CA346815611 | LHCGR,STON1-GTF2A1L | c.52C>A (p.Gln18Lys) c.3442-20660G>T (n.3442-20660G>T) | |
2 | g.48755624_48755625insGGCAGC | CA2658995103 | LHCGR,STON1-GTF2A1L | c.52_53insCGCTGC (p.Leu17_Gln18insProLeu) c.3442-20656_3442-20655insGGCAGC (n.3442-20656_3442-20655insGGCAGC) | gnomAD v4 |
2 | g.48755624_48755625insTGCAGCAGC | CA1248636793 | LHCGR,STON1-GTF2A1L | c.52_53insTGCAGCTGC (p.Leu17_Gln18insLeuGlnLeu) c.3442-20656_3442-20655insTGCAGCAGC (n.3442-20656_3442-20655insTGCAGCAGC) | dbSNP gnomAD v4 |
2 | g.48755624_48755625insTGCAGCAGCAGC | CA2658995105 | LHCGR,STON1-GTF2A1L | c.52_53insTGCTGCAGCTGC (p.Leu17_Gln18insLeuLeuGlnLeu) c.3442-20656_3442-20655insTGCAGCAGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGC) | gnomAD v4 |
2 | g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGCAGCAGC | CA2658995102 | LHCGR,STON1-GTF2A1L | c.52_53insTGCTGAAGCTGCTGCTGCTGCTGCAGCTGC (p.Leu17_Gln18insLeuLeuLysLeuLeuLeuLeuLeuGlnLeu) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGCAGCAGC) | gnomAD v4 |
2 | g.48755634_48755636dup | CA1653495 | LHCGR,STON1-GTF2A1L | c.50_52dup (p.Leu17_Gln18insLeu) c.3442-20646_3442-20644dup (n.3442-20646_3442-20644dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755631_48755636dup | CA532559294 | LHCGR,STON1-GTF2A1L | c.47_52dup (p.Leu17_Gln18insLeuLeu) c.3442-20649_3442-20644dup (n.3442-20649_3442-20644dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755628_48755636dup | CA2658995104 | LHCGR,STON1-GTF2A1L | c.44_52dup (p.Leu17_Gln18insLeuLeuLeu) c.3442-20652_3442-20644dup (n.3442-20652_3442-20644dup) | gnomAD v4 |
2 | g.48755634_48755636del | CA1653494 | LHCGR,STON1-GTF2A1L | c.50_52del (p.Leu17del) c.3442-20646_3442-20644del (n.3442-20646_3442-20644del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755625_48755636del | CA2658995101 | LHCGR,STON1-GTF2A1L | c.41_52del (p.Leu14_Leu17del) c.3442-20655_3442-20644del (n.3442-20655_3442-20644del) | gnomAD v4 |
2 | g.48755625_48755645del | CA1653496 | LHCGR,STON1-GTF2A1L | c.32_52del (p.Leu11_Leu17del) c.3442-20655_3442-20635del (n.3442-20655_3442-20635del) | dbSNP ExAC gnomAD v4 |
2 | g.48755621C>A | CA426095222 | LHCGR,STON1-GTF2A1L | c.51G>T (p.Leu17=) c.3442-20659C>A (n.3442-20659C>A) | |
2 | g.48755621C>G | CA426095221 | LHCGR,STON1-GTF2A1L | c.51G>C (p.Leu17=) c.3442-20659C>G (n.3442-20659C>G) | |
2 | g.48755621C>T | CA426095220 | LHCGR,STON1-GTF2A1L | c.51G>A (p.Leu17=) c.3442-20659C>T (n.3442-20659C>T) | |
2 | g.48755624_48755625insTGCAGCAGCAGCAGCAGCTTCAGC | CA1030381871 | LHCGR,STON1-GTF2A1L | c.51_52insAAGCTGCTGCTGCTGCTGCAGCTG (p.Leu17_Gln18insLysLeuLeuLeuLeuLeuGlnLeu) c.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGC (n.3442-20656_3442-20655insTGCAGCAGCAGCAGCAGCTTCAGC) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48755628_48755645dup | CA769618304 | LHCGR,STON1-GTF2A1L | c.34_51dup (p.Leu17_Gln18insLysLeuLeuLeuLeuLeu) c.3442-20652_3442-20635dup (n.3442-20652_3442-20635dup) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48755628_48755645del | CA2573134942 | LHCGR,STON1-GTF2A1L | c.34_51del (p.Lys12_Leu17del) c.3442-20652_3442-20635del (n.3442-20652_3442-20635del) | ClinVar dbSNP |
2 | g.48755622A= | CA1248636794 | LHCGR,STON1-GTF2A1L | c.50T= (p.Leu17=) c.3442-20658A= (n.3442-20658A=) | |
2 | g.48755622A>C | CA346815614 | LHCGR,STON1-GTF2A1L | c.50T>G (p.Leu17Arg) c.3442-20658A>C (n.3442-20658A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755622A>G | CA346815615 | LHCGR,STON1-GTF2A1L | c.50T>C (p.Leu17Pro) c.3442-20658A>G (n.3442-20658A>G) | |
2 | g.48755622A>T | CA346815616 | LHCGR,STON1-GTF2A1L | c.50T>A (p.Leu17Gln) c.3442-20658A>T (n.3442-20658A>T) | dbSNP gnomAD v4 |
2 | g.48755623G>A | CA426095224 | LHCGR,STON1-GTF2A1L | c.49C>T (p.Leu17=) c.3442-20657G>A (n.3442-20657G>A) | gnomAD v4 |
2 | g.48755623G>C | CA346815617 | LHCGR,STON1-GTF2A1L | c.49C>G (p.Leu17Val) c.3442-20657G>C (n.3442-20657G>C) | gnomAD v4 |
2 | g.48755623G= | CA1248636795 | LHCGR,STON1-GTF2A1L | c.49C= (p.Leu17=) c.3442-20657G= (n.3442-20657G=) | |
2 | g.48755623G>T | CA346815618 | LHCGR,STON1-GTF2A1L | c.49C>A (p.Leu17Met) c.3442-20657G>T (n.3442-20657G>T) | |
2 | g.48755624_48755625insTGC | CA426095223 | LHCGR,STON1-GTF2A1L | c.49_50insAGC (p.Leu16_Leu17insGln) c.3442-20656_3442-20655insTGC (n.3442-20656_3442-20655insTGC) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755624_48755625insTGCTGC | CA2699099416 | LHCGR,STON1-GTF2A1L | c.49_50insAGCAGC (p.Leu16_Leu17insGlnGln) c.3442-20656_3442-20655insTGCTGC (n.3442-20656_3442-20655insTGCTGC) | dbSNP |
2 | g.48755628_48755651dup | CA2658995106 | LHCGR,STON1-GTF2A1L | c.26_49dup (p.Leu16_Leu17insGlnLeuLeuLysLeuLeuLeuLeu) c.3442-20652_3442-20629dup (n.3442-20652_3442-20629dup) | gnomAD v4 |
2 | g.48755624C>A | CA426095227 | LHCGR,STON1-GTF2A1L | c.48G>T (p.Leu16=) c.3442-20656C>A (n.3442-20656C>A) | dbSNP gnomAD v2 |
2 | g.48755624C= | CA1248636796 | LHCGR,STON1-GTF2A1L | c.48G= (p.Leu16=) c.3442-20656C= (n.3442-20656C=) | |
2 | g.48755624C>G | CA426095226 | LHCGR,STON1-GTF2A1L | c.48G>C (p.Leu16=) c.3442-20656C>G (n.3442-20656C>G) | |
2 | g.48755624C>T | CA426095225 | LHCGR,STON1-GTF2A1L | c.48G>A (p.Leu16=) c.3442-20656C>T (n.3442-20656C>T) | gnomAD v4 |
2 | g.48755624_48755625insTGCAAC | CA2658995107 | LHCGR,STON1-GTF2A1L | c.48_49insTTGCAG (p.Leu16_Leu17insLeuGln) c.3442-20656_3442-20655insTGCAAC (n.3442-20656_3442-20655insTGCAAC) | gnomAD v4 |
2 | g.48755624_48755625insTGCATC | CA1653497 | LHCGR,STON1-GTF2A1L | c.48_49insATGCAG (p.Leu16_Leu17insMetGln) c.3442-20656_3442-20655insTGCATC (n.3442-20656_3442-20655insTGCATC) | dbSNP ExAC |
2 | g.48755631_48755645del | CA2576963766 | LHCGR,STON1-GTF2A1L | c.34_48del (p.Lys12_Leu16del) c.3442-20649_3442-20635del (n.3442-20649_3442-20635del) | |
2 | g.48755624_48755625insTGCAGG | CA2658995108 | LHCGR,STON1-GTF2A1L | c.47_48insCCTGCA (p.Leu16_Leu17insLeuGln) c.3442-20656_3442-20655insTGCAGG (n.3442-20656_3442-20655insTGCAGG) | gnomAD v4 |
2 | g.48755625A= | CA1248636797 | LHCGR,STON1-GTF2A1L | c.47T= (p.Leu16=) c.3442-20655A= (n.3442-20655A=) | |
2 | g.48755625A>C | CA346815619 | LHCGR,STON1-GTF2A1L | c.47T>G (p.Leu16Arg) c.3442-20655A>C (n.3442-20655A>C) | |
2 | g.48755625A>G | CA346815620 | LHCGR,STON1-GTF2A1L | c.47T>C (p.Leu16Pro) c.3442-20655A>G (n.3442-20655A>G) | |
2 | g.48755625A>T | CA1653498 | LHCGR,STON1-GTF2A1L | c.47T>A (p.Leu16Gln) c.3442-20655A>T (n.3442-20655A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755626G>A | CA426095228 | LHCGR,STON1-GTF2A1L | c.46C>T (p.Leu16=) c.3442-20654G>A (n.3442-20654G>A) | |
2 | g.48755626G>C | CA346815621 | LHCGR,STON1-GTF2A1L | c.46C>G (p.Leu16Val) c.3442-20654G>C (n.3442-20654G>C) | |
2 | g.48755626G>T | CA346815622 | LHCGR,STON1-GTF2A1L | c.46C>A (p.Leu16Met) c.3442-20654G>T (n.3442-20654G>T) | |
2 | g.48755627C>A | CA426095231 | LHCGR,STON1-GTF2A1L | c.45G>T (p.Leu15=) c.3442-20653C>A (n.3442-20653C>A) | |
2 | g.48755627C>G | CA426095229 | LHCGR,STON1-GTF2A1L | c.45G>C (p.Leu15=) c.3442-20653C>G (n.3442-20653C>G) | |
2 | g.48755627C>T | CA426095230 | LHCGR,STON1-GTF2A1L | c.45G>A (p.Leu15=) c.3442-20653C>T (n.3442-20653C>T) | |
2 | g.48755628_48755629insACA | CA2658995109 | LHCGR,STON1-GTF2A1L | c.45_46insTTG (p.Leu15_Leu16insLeu) c.3442-20652_3442-20651insACA (n.3442-20652_3442-20651insACA) | gnomAD v4 |
2 | g.48755628_48755629insTCA | CA2658995110 | LHCGR,STON1-GTF2A1L | c.45_46insATG (p.Leu15_Leu16insMet) c.3442-20652_3442-20651insTCA (n.3442-20652_3442-20651insTCA) | gnomAD v4 |
2 | g.48755628A= | CA1248636798 | LHCGR,STON1-GTF2A1L | c.44T= (p.Leu15=) c.3442-20652A= (n.3442-20652A=) | |
2 | g.48755628A>C | CA346815623 | LHCGR,STON1-GTF2A1L | c.44T>G (p.Leu15Arg) c.3442-20652A>C (n.3442-20652A>C) | |
2 | g.48755628A>G | CA346815624 | LHCGR,STON1-GTF2A1L | c.44T>C (p.Leu15Pro) c.3442-20652A>G (n.3442-20652A>G) | |
2 | g.48755628A>T | CA346815625 | LHCGR,STON1-GTF2A1L | c.44T>A (p.Leu15Gln) c.3442-20652A>T (n.3442-20652A>T) | |
2 | g.48755629G>A | CA426095232 | LHCGR,STON1-GTF2A1L | c.43C>T (p.Leu15=) c.3442-20651G>A (n.3442-20651G>A) | |
2 | g.48755629G>C | CA346815626 | LHCGR,STON1-GTF2A1L | c.43C>G (p.Leu15Val) c.3442-20651G>C (n.3442-20651G>C) | |
2 | g.48755629G= | CA1248636799 | LHCGR,STON1-GTF2A1L | c.43C= (p.Leu15=) c.3442-20651G= (n.3442-20651G=) | |
2 | g.48755629G>T | CA346815627 | LHCGR,STON1-GTF2A1L | c.43C>A (p.Leu15Met) c.3442-20651G>T (n.3442-20651G>T) | |
2 | g.48755634_48755651dup | CA532559295 | LHCGR,STON1-GTF2A1L | c.26_43dup (p.Leu14_Leu15insGlnLeuLeuLysLeuLeu) c.3442-20646_3442-20629dup (n.3442-20646_3442-20629dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755630C>A | CA426095235 | LHCGR,STON1-GTF2A1L | c.42G>T (p.Leu14=) c.3442-20650C>A (n.3442-20650C>A) | gnomAD v4 |
2 | g.48755630C= | CA1248636800 | LHCGR,STON1-GTF2A1L | c.42G= (p.Leu14=) c.3442-20650C= (n.3442-20650C=) | |
2 | g.48755630C>G | CA426095233 | LHCGR,STON1-GTF2A1L | c.42G>C (p.Leu14=) c.3442-20650C>G (n.3442-20650C>G) | gnomAD v4 |
2 | g.48755630C>T | CA426095234 | LHCGR,STON1-GTF2A1L | c.42G>A (p.Leu14=) c.3442-20650C>T (n.3442-20650C>T) | |
2 | g.48755631_48755632insTCA | CA2658995111 | LHCGR,STON1-GTF2A1L | c.42_43insATG (p.Leu14_Leu15insMet) c.3442-20649_3442-20648insTCA (n.3442-20649_3442-20648insTCA) | gnomAD v4 |
2 | g.48755638_48755646dup | CA1653499 | LHCGR,STON1-GTF2A1L | c.34_42dup (p.Leu14_Leu15insLysLeuLeu) c.3442-20642_3442-20634dup (n.3442-20642_3442-20634dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48755631A>C | CA346815628 | LHCGR,STON1-GTF2A1L | c.41T>G (p.Leu14Arg) c.3442-20649A>C (n.3442-20649A>C) | |
2 | g.48755631A>G | CA346815629 | LHCGR,STON1-GTF2A1L | c.41T>C (p.Leu14Pro) c.3442-20649A>G (n.3442-20649A>G) | |
2 | g.48755631A>T | CA346815630 | LHCGR,STON1-GTF2A1L | c.41T>A (p.Leu14Gln) c.3442-20649A>T (n.3442-20649A>T) | |
2 | g.48755632_48755633insAAG | CA532559296 | LHCGR,STON1-GTF2A1L | c.41_42insTCT (p.Leu14_Leu15insLeu) c.3442-20648_3442-20647insAAG (n.3442-20648_3442-20647insAAG) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755632G>A | CA426095236 | LHCGR,STON1-GTF2A1L | c.40C>T (p.Leu14=) c.3442-20648G>A (n.3442-20648G>A) | dbSNP gnomAD v4 |
2 | g.48755632G>C | CA346815632 | LHCGR,STON1-GTF2A1L | c.40C>G (p.Leu14Val) c.3442-20648G>C (n.3442-20648G>C) | |
2 | g.48755632G= | CA1248636801 | LHCGR,STON1-GTF2A1L | c.40C= (p.Leu14=) c.3442-20648G= (n.3442-20648G=) | |
2 | g.48755632G>T | CA346815631 | LHCGR,STON1-GTF2A1L | c.40C>A (p.Leu14Met) c.3442-20648G>T (n.3442-20648G>T) | |
2 | g.48755636_48755637insGGCGGCTGCAGC | CA2658995112 | LHCGR,STON1-GTF2A1L | c.40_41insAGCCGCCGCTGC (p.Leu13_Leu14insGlnProProLeu) c.3442-20644_3442-20643insGGCGGCTGCAGC (n.3442-20644_3442-20643insGGCGGCTGCAGC) | gnomAD v4 |
2 | g.48755637_48755651del | CA2576963767 | LHCGR,STON1-GTF2A1L | c.26_40del (p.Gln9_Leu13del) c.3442-20643_3442-20629del (n.3442-20643_3442-20629del) | |
2 | g.48755633C>A | CA426095238 | LHCGR,STON1-GTF2A1L | c.39G>T (p.Leu13=) c.3442-20647C>A (n.3442-20647C>A) | gnomAD v4 |
2 | g.48755633C= | CA1248636802 | LHCGR,STON1-GTF2A1L | c.39G= (p.Leu13=) c.3442-20647C= (n.3442-20647C=) | |
2 | g.48755633C>G | CA426095237 | LHCGR,STON1-GTF2A1L | c.39G>C (p.Leu13=) c.3442-20647C>G (n.3442-20647C>G) | |
2 | g.48755633C>T | CA426095239 | LHCGR,STON1-GTF2A1L | c.39G>A (p.Leu13=) c.3442-20647C>T (n.3442-20647C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755634A>C | CA346815633 | LHCGR,STON1-GTF2A1L | c.38T>G (p.Leu13Arg) c.3442-20646A>C (n.3442-20646A>C) | |
2 | g.48755634A>G | CA346815635 | LHCGR,STON1-GTF2A1L | c.38T>C (p.Leu13Pro) c.3442-20646A>G (n.3442-20646A>G) | |
2 | g.48755634A>T | CA346815634 | LHCGR,STON1-GTF2A1L | c.38T>A (p.Leu13Gln) c.3442-20646A>T (n.3442-20646A>T) | |
2 | g.48755635_48755636insAAG | CA2658995113 | LHCGR,STON1-GTF2A1L | c.38_39insTCT (p.Leu13_Leu14insLeu) c.3442-20645_3442-20644insAAG (n.3442-20645_3442-20644insAAG) | gnomAD v4 |
2 | g.48755635_48755636insTAG | CA1030381877 | LHCGR,STON1-GTF2A1L | c.38_39insACT (p.Leu13_Leu14insLeu) c.3442-20645_3442-20644insTAG (n.3442-20645_3442-20644insTAG) | gnomAD v3 gnomAD v4 |
2 | g.48755635G>A | CA426095240 | LHCGR,STON1-GTF2A1L | c.37C>T (p.Leu13=) c.3442-20645G>A (n.3442-20645G>A) | |
2 | g.48755635G>C | CA346815636 | LHCGR,STON1-GTF2A1L | c.37C>G (p.Leu13Val) c.3442-20645G>C (n.3442-20645G>C) | |
2 | g.48755635G>T | CA346815637 | LHCGR,STON1-GTF2A1L | c.37C>A (p.Leu13Met) c.3442-20645G>T (n.3442-20645G>T) | |
2 | g.48755636_48755637insGGCGGC | CA2658995114 | LHCGR,STON1-GTF2A1L | c.37_38insCGCCGC (p.Lys12_Leu13insProPro) c.3442-20644_3442-20643insGGCGGC (n.3442-20644_3442-20643insGGCGGC) | gnomAD v4 |
2 | g.48755635_48755638delinsGCTT | CA1248636803 | LHCGR,STON1-GTF2A1L | c.34_37delinsAAGC (p.Lys12=) c.3442-20645_3442-20642delinsGCTT (n.3442-20645_3442-20642delinsGCTT) | |
2 | g.48755636C>A | CA346815638 | LHCGR,STON1-GTF2A1L | c.36G>T (p.Lys12Asn) c.3442-20644C>A (n.3442-20644C>A) | dbSNP |
2 | g.48755636C= | CA1248636804 | LHCGR,STON1-GTF2A1L | c.36G= (p.Lys12=) c.3442-20644C= (n.3442-20644C=) | |
2 | g.48755636C>G | CA346815639 | LHCGR,STON1-GTF2A1L | c.36G>C (p.Lys12Asn) c.3442-20644C>G (n.3442-20644C>G) | |
2 | g.48755636C>T | CA426095241 | LHCGR,STON1-GTF2A1L | c.36G>A (p.Lys12=) c.3442-20644C>T (n.3442-20644C>T) | |
2 | g.48755636_48755637insATC | CA2658995115 | LHCGR,STON1-GTF2A1L | c.36_37insATG (p.Lys12_Leu13insMet) c.3442-20644_3442-20643insATC (n.3442-20644_3442-20643insATC) | gnomAD v4 |
2 | g.48755637_48755639del | CA47295577 | LHCGR,STON1-GTF2A1L | c.34_36del (p.Lys12del) c.3442-20643_3442-20641del (n.3442-20643_3442-20641del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48755636_48755637insAGT | CA2841704894 | LHCGR,STON1-GTF2A1L | c.35_36insACT (p.Lys12_Leu13insLeu) c.3442-20644_3442-20643insAGT (n.3442-20644_3442-20643insAGT) | |
2 | g.48755637T>A | CA346815640 | LHCGR,STON1-GTF2A1L | c.35A>T (p.Lys12Met) c.3442-20643T>A (n.3442-20643T>A) | gnomAD v4 |
2 | g.48755637T>C | CA346815641 | LHCGR,STON1-GTF2A1L | c.35A>G (p.Lys12Arg) c.3442-20643T>C (n.3442-20643T>C) | |
2 | g.48755637T>G | CA346815642 | LHCGR,STON1-GTF2A1L | c.35A>C (p.Lys12Thr) c.3442-20643T>G (n.3442-20643T>G) | |
2 | g.48755637_48755638insGT | CA2573051987 | LHCGR,STON1-GTF2A1L | c.35_36insCA (p.Lys12AsnfsTer?) c.3442-20643_3442-20642insGT (n.3442-20643_3442-20642insGT) | ClinVar dbSNP |
2 | g.48755638T>A | CA346815643 | LHCGR,STON1-GTF2A1L | c.34A>T (p.Lys12Ter) c.3442-20642T>A (n.3442-20642T>A) | |
2 | g.48755638T>C | CA346815644 | LHCGR,STON1-GTF2A1L | c.34A>G (p.Lys12Glu) c.3442-20642T>C (n.3442-20642T>C) | |
2 | g.48755638T>G | CA346815645 | LHCGR,STON1-GTF2A1L | c.34A>C (p.Lys12Gln) c.3442-20642T>G (n.3442-20642T>G) | gnomAD v4 |
2 | g.48755638_48755640del | CA2658995116 | LHCGR,STON1-GTF2A1L | c.32_34del (p.Leu11_Lys12delinsGln) c.3442-20642_3442-20640del (n.3442-20642_3442-20640del) | gnomAD v4 |
2 | g.48755639C>A | CA426095245 | LHCGR,STON1-GTF2A1L | c.33G>T (p.Leu11=) c.3442-20641C>A (n.3442-20641C>A) | |
2 | g.48755639C= | CA1248636805 | LHCGR,STON1-GTF2A1L | c.33G= (p.Leu11=) c.3442-20641C= (n.3442-20641C=) | |
2 | g.48755639C>G | CA426095248 | LHCGR,STON1-GTF2A1L | c.33G>C (p.Leu11=) c.3442-20641C>G (n.3442-20641C>G) | |
2 | g.48755639C>T | CA426095246 | LHCGR,STON1-GTF2A1L | c.33G>A (p.Leu11=) c.3442-20641C>T (n.3442-20641C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48755640A= | CA1248636806 | LHCGR,STON1-GTF2A1L | c.32T= (p.Leu11=) c.3442-20640A= (n.3442-20640A=) | |
2 | g.48755640A>C | CA346815647 | LHCGR,STON1-GTF2A1L | c.32T>G (p.Leu11Arg) c.3442-20640A>C (n.3442-20640A>C) | |
2 | g.48755640A>G | CA1653500 | LHCGR,STON1-GTF2A1L | c.32T>C (p.Leu11Pro) c.3442-20640A>G (n.3442-20640A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48755640A>T | CA346815646 | LHCGR,STON1-GTF2A1L | c.32T>A (p.Leu11Gln) c.3442-20640A>T (n.3442-20640A>T) |