Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688746T>A | CA346749943 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1051A>T (p.Asn351Tyr) c.948-607A>T (n.948-607A>T) c.3441+17066T>A (n.3441+17066T>A) c.948-163A>T (n.948-163A>T) c.970A>T (p.Asn324Tyr) c.276+17066T>A (n.276+17066T>A) c.*220+5478A>T (n.*220+5478A>T) c.94A>T (p.Asn32Tyr) c.121A>T (p.Asn41Tyr) c.976A>T (p.Asn326Tyr) c.790A>T (p.Asn264Tyr) c.709A>T (p.Asn237Tyr) c.415A>T (p.Asn139Tyr) c.796A>T (p.Asn266Tyr) | |
2 | g.48688746T>C | CA346749944 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1051A>G (p.Asn351Asp) c.948-607A>G (n.948-607A>G) c.3441+17066T>C (n.3441+17066T>C) c.948-163A>G (n.948-163A>G) c.970A>G (p.Asn324Asp) c.276+17066T>C (n.276+17066T>C) c.*220+5478A>G (n.*220+5478A>G) c.94A>G (p.Asn32Asp) c.121A>G (p.Asn41Asp) c.976A>G (p.Asn326Asp) c.790A>G (p.Asn264Asp) c.709A>G (p.Asn237Asp) c.415A>G (p.Asn139Asp) c.796A>G (p.Asn266Asp) | |
2 | g.48688746T>G | CA346749945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1051A>C (p.Asn351His) c.948-607A>C (n.948-607A>C) c.3441+17066T>G (n.3441+17066T>G) c.948-163A>C (n.948-163A>C) c.970A>C (p.Asn324His) c.276+17066T>G (n.276+17066T>G) c.*220+5478A>C (n.*220+5478A>C) c.94A>C (p.Asn32His) c.121A>C (p.Asn41His) c.976A>C (p.Asn326His) c.790A>C (p.Asn264His) c.709A>C (p.Asn237His) c.415A>C (p.Asn139His) c.796A>C (p.Asn266His) | |
2 | g.48688747A>C | CA346749948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1050T>G (p.Phe350Leu) c.948-608T>G (n.948-608T>G) c.3441+17067A>C (n.3441+17067A>C) c.948-164T>G (n.948-164T>G) c.969T>G (p.Phe323Leu) c.276+17067A>C (n.276+17067A>C) c.*220+5477T>G (n.*220+5477T>G) c.93T>G (p.Phe31Leu) c.120T>G (p.Phe40Leu) c.975T>G (p.Phe325Leu) c.789T>G (p.Phe263Leu) c.708T>G (p.Phe236Leu) c.414T>G (p.Phe138Leu) c.795T>G (p.Phe265Leu) | |
2 | g.48688747A>G | CA426124783 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1050T>C (p.Phe350=) c.948-608T>C (n.948-608T>C) c.3441+17067A>G (n.3441+17067A>G) c.948-164T>C (n.948-164T>C) c.969T>C (p.Phe323=) c.276+17067A>G (n.276+17067A>G) c.*220+5477T>C (n.*220+5477T>C) c.93T>C (p.Phe31=) c.120T>C (p.Phe40=) c.975T>C (p.Phe325=) c.789T>C (p.Phe263=) c.708T>C (p.Phe236=) c.414T>C (p.Phe138=) c.795T>C (p.Phe265=) | |
2 | g.48688747A>T | CA346749946 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1050T>A (p.Phe350Leu) c.948-608T>A (n.948-608T>A) c.3441+17067A>T (n.3441+17067A>T) c.948-164T>A (n.948-164T>A) c.969T>A (p.Phe323Leu) c.276+17067A>T (n.276+17067A>T) c.*220+5477T>A (n.*220+5477T>A) c.93T>A (p.Phe31Leu) c.120T>A (p.Phe40Leu) c.975T>A (p.Phe325Leu) c.789T>A (p.Phe263Leu) c.708T>A (p.Phe236Leu) c.414T>A (p.Phe138Leu) c.795T>A (p.Phe265Leu) | |
2 | g.48688750del | CA2658992089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1050del (p.Phe350LeufsTer16) c.948-608del (n.948-608del) c.3441+17070del (n.3441+17070del) c.948-164del (n.948-164del) c.969del (p.Phe323LeufsTer16) c.276+17070del (n.276+17070del) c.*220+5477del (n.*220+5477del) c.93del (p.Phe31LeufsTer16) c.120del (p.Phe40LeufsTer16) c.975del (p.Phe325LeufsTer16) c.789del (p.Phe263LeufsTer16) c.708del (p.Phe236LeufsTer16) c.414del (p.Phe138LeufsTer16) c.795del (p.Phe265LeufsTer16) | gnomAD v4 |
2 | g.48688748A>C | CA346749952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1049T>G (p.Phe350Cys) c.948-609T>G (n.948-609T>G) c.3441+17068A>C (n.3441+17068A>C) c.948-165T>G (n.948-165T>G) c.968T>G (p.Phe323Cys) c.276+17068A>C (n.276+17068A>C) c.*220+5476T>G (n.*220+5476T>G) c.92T>G (p.Phe31Cys) c.119T>G (p.Phe40Cys) c.974T>G (p.Phe325Cys) c.788T>G (p.Phe263Cys) c.707T>G (p.Phe236Cys) c.413T>G (p.Phe138Cys) c.794T>G (p.Phe265Cys) | |
2 | g.48688748A>G | CA346749963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1049T>C (p.Phe350Ser) c.948-609T>C (n.948-609T>C) c.3441+17068A>G (n.3441+17068A>G) c.948-165T>C (n.948-165T>C) c.968T>C (p.Phe323Ser) c.276+17068A>G (n.276+17068A>G) c.*220+5476T>C (n.*220+5476T>C) c.92T>C (p.Phe31Ser) c.119T>C (p.Phe40Ser) c.974T>C (p.Phe325Ser) c.788T>C (p.Phe263Ser) c.707T>C (p.Phe236Ser) c.413T>C (p.Phe138Ser) c.794T>C (p.Phe265Ser) | |
2 | g.48688748A>T | CA346749970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1049T>A (p.Phe350Tyr) c.948-609T>A (n.948-609T>A) c.3441+17068A>T (n.3441+17068A>T) c.948-165T>A (n.948-165T>A) c.968T>A (p.Phe323Tyr) c.276+17068A>T (n.276+17068A>T) c.*220+5476T>A (n.*220+5476T>A) c.92T>A (p.Phe31Tyr) c.119T>A (p.Phe40Tyr) c.974T>A (p.Phe325Tyr) c.788T>A (p.Phe263Tyr) c.707T>A (p.Phe236Tyr) c.413T>A (p.Phe138Tyr) c.794T>A (p.Phe265Tyr) | |
2 | g.48688749A>C | CA346749972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1048T>G (p.Phe350Val) c.948-610T>G (n.948-610T>G) c.3441+17069A>C (n.3441+17069A>C) c.948-166T>G (n.948-166T>G) c.967T>G (p.Phe323Val) c.276+17069A>C (n.276+17069A>C) c.*220+5475T>G (n.*220+5475T>G) c.91T>G (p.Phe31Val) c.118T>G (p.Phe40Val) c.973T>G (p.Phe325Val) c.787T>G (p.Phe263Val) c.706T>G (p.Phe236Val) c.412T>G (p.Phe138Val) c.793T>G (p.Phe265Val) | |
2 | g.48688749A>G | CA346749975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1048T>C (p.Phe350Leu) c.948-610T>C (n.948-610T>C) c.3441+17069A>G (n.3441+17069A>G) c.948-166T>C (n.948-166T>C) c.967T>C (p.Phe323Leu) c.276+17069A>G (n.276+17069A>G) c.*220+5475T>C (n.*220+5475T>C) c.91T>C (p.Phe31Leu) c.118T>C (p.Phe40Leu) c.973T>C (p.Phe325Leu) c.787T>C (p.Phe263Leu) c.706T>C (p.Phe236Leu) c.412T>C (p.Phe138Leu) c.793T>C (p.Phe265Leu) | |
2 | g.48688749A>T | CA346749981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1048T>A (p.Phe350Ile) c.948-610T>A (n.948-610T>A) c.3441+17069A>T (n.3441+17069A>T) c.948-166T>A (n.948-166T>A) c.967T>A (p.Phe323Ile) c.276+17069A>T (n.276+17069A>T) c.*220+5475T>A (n.*220+5475T>A) c.91T>A (p.Phe31Ile) c.118T>A (p.Phe40Ile) c.973T>A (p.Phe325Ile) c.787T>A (p.Phe263Ile) c.706T>A (p.Phe236Ile) c.412T>A (p.Phe138Ile) c.793T>A (p.Phe265Ile) | |
2 | g.48688750A= | CA1248601255 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1047T= (p.Ala349=) c.948-611T= (n.948-611T=) c.3441+17070A= (n.3441+17070A=) c.948-167T= (n.948-167T=) c.966T= (p.Ala322=) c.276+17070A= (n.276+17070A=) c.*220+5474T= (n.*220+5474T=) c.90T= (p.Ala30=) c.117T= (p.Ala39=) c.972T= (p.Ala324=) c.786T= (p.Ala262=) c.705T= (p.Ala235=) c.411T= (p.Ala137=) c.792T= (p.Ala264=) | |
2 | g.48688750A>C | CA426124784 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1047T>G (p.Ala349=) c.948-611T>G (n.948-611T>G) c.3441+17070A>C (n.3441+17070A>C) c.948-167T>G (n.948-167T>G) c.966T>G (p.Ala322=) c.276+17070A>C (n.276+17070A>C) c.*220+5474T>G (n.*220+5474T>G) c.90T>G (p.Ala30=) c.117T>G (p.Ala39=) c.972T>G (p.Ala324=) c.786T>G (p.Ala262=) c.705T>G (p.Ala235=) c.411T>G (p.Ala137=) c.792T>G (p.Ala264=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688750A>G | CA426124785 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1047T>C (p.Ala349=) c.948-611T>C (n.948-611T>C) c.3441+17070A>G (n.3441+17070A>G) c.948-167T>C (n.948-167T>C) c.966T>C (p.Ala322=) c.276+17070A>G (n.276+17070A>G) c.*220+5474T>C (n.*220+5474T>C) c.90T>C (p.Ala30=) c.117T>C (p.Ala39=) c.972T>C (p.Ala324=) c.786T>C (p.Ala262=) c.705T>C (p.Ala235=) c.411T>C (p.Ala137=) c.792T>C (p.Ala264=) | |
2 | g.48688750A>T | CA426124786 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1047T>A (p.Ala349=) c.948-611T>A (n.948-611T>A) c.3441+17070A>T (n.3441+17070A>T) c.948-167T>A (n.948-167T>A) c.966T>A (p.Ala322=) c.276+17070A>T (n.276+17070A>T) c.*220+5474T>A (n.*220+5474T>A) c.90T>A (p.Ala30=) c.117T>A (p.Ala39=) c.972T>A (p.Ala324=) c.786T>A (p.Ala262=) c.705T>A (p.Ala235=) c.411T>A (p.Ala137=) c.792T>A (p.Ala264=) | |
2 | g.48688751G>A | CA1653089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1046C>T (p.Ala349Val) c.948-612C>T (n.948-612C>T) c.3441+17071G>A (n.3441+17071G>A) c.948-168C>T (n.948-168C>T) c.965C>T (p.Ala322Val) c.276+17071G>A (n.276+17071G>A) c.*220+5473C>T (n.*220+5473C>T) c.89C>T (p.Ala30Val) c.116C>T (p.Ala39Val) c.971C>T (p.Ala324Val) c.785C>T (p.Ala262Val) c.704C>T (p.Ala235Val) c.410C>T (p.Ala137Val) c.791C>T (p.Ala264Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688751G>C | CA346749991 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1046C>G (p.Ala349Gly) c.948-612C>G (n.948-612C>G) c.3441+17071G>C (n.3441+17071G>C) c.948-168C>G (n.948-168C>G) c.965C>G (p.Ala322Gly) c.276+17071G>C (n.276+17071G>C) c.*220+5473C>G (n.*220+5473C>G) c.89C>G (p.Ala30Gly) c.116C>G (p.Ala39Gly) c.971C>G (p.Ala324Gly) c.785C>G (p.Ala262Gly) c.704C>G (p.Ala235Gly) c.410C>G (p.Ala137Gly) c.791C>G (p.Ala264Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688751G= | CA1248601256 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1046C= (p.Ala349=) c.948-612C= (n.948-612C=) c.3441+17071G= (n.3441+17071G=) c.948-168C= (n.948-168C=) c.965C= (p.Ala322=) c.276+17071G= (n.276+17071G=) c.*220+5473C= (n.*220+5473C=) c.89C= (p.Ala30=) c.116C= (p.Ala39=) c.971C= (p.Ala324=) c.785C= (p.Ala262=) c.704C= (p.Ala235=) c.410C= (p.Ala137=) c.791C= (p.Ala264=) | |
2 | g.48688751G>T | CA346749987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1046C>A (p.Ala349Asp) c.948-612C>A (n.948-612C>A) c.3441+17071G>T (n.3441+17071G>T) c.948-168C>A (n.948-168C>A) c.965C>A (p.Ala322Asp) c.276+17071G>T (n.276+17071G>T) c.*220+5473C>A (n.*220+5473C>A) c.89C>A (p.Ala30Asp) c.116C>A (p.Ala39Asp) c.971C>A (p.Ala324Asp) c.785C>A (p.Ala262Asp) c.704C>A (p.Ala235Asp) c.410C>A (p.Ala137Asp) c.791C>A (p.Ala264Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688752C>A | CA346749995 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1045G>T (p.Ala349Ser) c.948-613G>T (n.948-613G>T) c.3441+17072C>A (n.3441+17072C>A) c.948-169G>T (n.948-169G>T) c.964G>T (p.Ala322Ser) c.276+17072C>A (n.276+17072C>A) c.*220+5472G>T (n.*220+5472G>T) c.88G>T (p.Ala30Ser) c.115G>T (p.Ala39Ser) c.970G>T (p.Ala324Ser) c.784G>T (p.Ala262Ser) c.703G>T (p.Ala235Ser) c.409G>T (p.Ala137Ser) c.790G>T (p.Ala264Ser) | |
2 | g.48688752C= | CA1248601257 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1045G= (p.Ala349=) c.948-613G= (n.948-613G=) c.3441+17072C= (n.3441+17072C=) c.948-169G= (n.948-169G=) c.964G= (p.Ala322=) c.276+17072C= (n.276+17072C=) c.*220+5472G= (n.*220+5472G=) c.88G= (p.Ala30=) c.115G= (p.Ala39=) c.970G= (p.Ala324=) c.784G= (p.Ala262=) c.703G= (p.Ala235=) c.409G= (p.Ala137=) c.790G= (p.Ala264=) | |
2 | g.48688752C>G | CA346749996 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1045G>C (p.Ala349Pro) c.948-613G>C (n.948-613G>C) c.3441+17072C>G (n.3441+17072C>G) c.948-169G>C (n.948-169G>C) c.964G>C (p.Ala322Pro) c.276+17072C>G (n.276+17072C>G) c.*220+5472G>C (n.*220+5472G>C) c.88G>C (p.Ala30Pro) c.115G>C (p.Ala39Pro) c.970G>C (p.Ala324Pro) c.784G>C (p.Ala262Pro) c.703G>C (p.Ala235Pro) c.409G>C (p.Ala137Pro) c.790G>C (p.Ala264Pro) | dbSNP |
2 | g.48688752C>T | CA46753361 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1045G>A (p.Ala349Thr) c.948-613G>A (n.948-613G>A) c.3441+17072C>T (n.3441+17072C>T) c.948-169G>A (n.948-169G>A) c.964G>A (p.Ala322Thr) c.276+17072C>T (n.276+17072C>T) c.*220+5472G>A (n.*220+5472G>A) c.88G>A (p.Ala30Thr) c.115G>A (p.Ala39Thr) c.970G>A (p.Ala324Thr) c.784G>A (p.Ala262Thr) c.703G>A (p.Ala235Thr) c.409G>A (p.Ala137Thr) c.790G>A (p.Ala264Thr) | dbSNP gnomAD v4 |
2 | g.48688753A= | CA1248601258 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1044T= (p.Asp348=) c.948-614T= (n.948-614T=) c.3441+17073A= (n.3441+17073A=) c.948-170T= (n.948-170T=) c.963T= (p.Asp321=) c.276+17073A= (n.276+17073A=) c.*220+5471T= (n.*220+5471T=) c.87T= (p.Asp29=) c.114T= (p.Asp38=) c.969T= (p.Asp323=) c.783T= (p.Asp261=) c.702T= (p.Asp234=) c.408T= (p.Asp136=) c.789T= (p.Asp263=) | |
2 | g.48688753A>C | CA346749999 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1044T>G (p.Asp348Glu) c.948-614T>G (n.948-614T>G) c.3441+17073A>C (n.3441+17073A>C) c.948-170T>G (n.948-170T>G) c.963T>G (p.Asp321Glu) c.276+17073A>C (n.276+17073A>C) c.*220+5471T>G (n.*220+5471T>G) c.87T>G (p.Asp29Glu) c.114T>G (p.Asp38Glu) c.969T>G (p.Asp323Glu) c.783T>G (p.Asp261Glu) c.702T>G (p.Asp234Glu) c.408T>G (p.Asp136Glu) c.789T>G (p.Asp263Glu) | |
2 | g.48688753A>G | CA1653090 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1044T>C (p.Asp348=) c.948-614T>C (n.948-614T>C) c.3441+17073A>G (n.3441+17073A>G) c.948-170T>C (n.948-170T>C) c.963T>C (p.Asp321=) c.276+17073A>G (n.276+17073A>G) c.*220+5471T>C (n.*220+5471T>C) c.87T>C (p.Asp29=) c.114T>C (p.Asp38=) c.969T>C (p.Asp323=) c.783T>C (p.Asp261=) c.702T>C (p.Asp234=) c.408T>C (p.Asp136=) c.789T>C (p.Asp263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688753A>T | CA346750002 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1044T>A (p.Asp348Glu) c.948-614T>A (n.948-614T>A) c.3441+17073A>T (n.3441+17073A>T) c.948-170T>A (n.948-170T>A) c.963T>A (p.Asp321Glu) c.276+17073A>T (n.276+17073A>T) c.*220+5471T>A (n.*220+5471T>A) c.87T>A (p.Asp29Glu) c.114T>A (p.Asp38Glu) c.969T>A (p.Asp323Glu) c.783T>A (p.Asp261Glu) c.702T>A (p.Asp234Glu) c.408T>A (p.Asp136Glu) c.789T>A (p.Asp263Glu) | |
2 | g.48688754T>A | CA346750004 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1043A>T (p.Asp348Val) c.948-615A>T (n.948-615A>T) c.3441+17074T>A (n.3441+17074T>A) c.948-171A>T (n.948-171A>T) c.962A>T (p.Asp321Val) c.276+17074T>A (n.276+17074T>A) c.*220+5470A>T (n.*220+5470A>T) c.86A>T (p.Asp29Val) c.113A>T (p.Asp38Val) c.968A>T (p.Asp323Val) c.782A>T (p.Asp261Val) c.701A>T (p.Asp234Val) c.407A>T (p.Asp136Val) c.788A>T (p.Asp263Val) | |
2 | g.48688754T>C | CA346750009 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1043A>G (p.Asp348Gly) c.948-615A>G (n.948-615A>G) c.3441+17074T>C (n.3441+17074T>C) c.948-171A>G (n.948-171A>G) c.962A>G (p.Asp321Gly) c.276+17074T>C (n.276+17074T>C) c.*220+5470A>G (n.*220+5470A>G) c.86A>G (p.Asp29Gly) c.113A>G (p.Asp38Gly) c.968A>G (p.Asp323Gly) c.782A>G (p.Asp261Gly) c.701A>G (p.Asp234Gly) c.407A>G (p.Asp136Gly) c.788A>G (p.Asp263Gly) | |
2 | g.48688754T>G | CA346750006 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1043A>C (p.Asp348Ala) c.948-615A>C (n.948-615A>C) c.3441+17074T>G (n.3441+17074T>G) c.948-171A>C (n.948-171A>C) c.962A>C (p.Asp321Ala) c.276+17074T>G (n.276+17074T>G) c.*220+5470A>C (n.*220+5470A>C) c.86A>C (p.Asp29Ala) c.113A>C (p.Asp38Ala) c.968A>C (p.Asp323Ala) c.782A>C (p.Asp261Ala) c.701A>C (p.Asp234Ala) c.407A>C (p.Asp136Ala) c.788A>C (p.Asp263Ala) | |
2 | g.48688755C>A | CA346750010 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1042G>T (p.Asp348Tyr) c.948-616G>T (n.948-616G>T) c.3441+17075C>A (n.3441+17075C>A) c.948-172G>T (n.948-172G>T) c.961G>T (p.Asp321Tyr) c.276+17075C>A (n.276+17075C>A) c.*220+5469G>T (n.*220+5469G>T) c.85G>T (p.Asp29Tyr) c.112G>T (p.Asp38Tyr) c.967G>T (p.Asp323Tyr) c.781G>T (p.Asp261Tyr) c.700G>T (p.Asp234Tyr) c.406G>T (p.Asp136Tyr) c.787G>T (p.Asp263Tyr) | |
2 | g.48688755C>G | CA346750011 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1042G>C (p.Asp348His) c.948-616G>C (n.948-616G>C) c.3441+17075C>G (n.3441+17075C>G) c.948-172G>C (n.948-172G>C) c.961G>C (p.Asp321His) c.276+17075C>G (n.276+17075C>G) c.*220+5469G>C (n.*220+5469G>C) c.85G>C (p.Asp29His) c.112G>C (p.Asp38His) c.967G>C (p.Asp323His) c.781G>C (p.Asp261His) c.700G>C (p.Asp234His) c.406G>C (p.Asp136His) c.787G>C (p.Asp263His) | COSMIC |
2 | g.48688755C>T | CA346750012 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1042G>A (p.Asp348Asn) c.948-616G>A (n.948-616G>A) c.3441+17075C>T (n.3441+17075C>T) c.948-172G>A (n.948-172G>A) c.961G>A (p.Asp321Asn) c.276+17075C>T (n.276+17075C>T) c.*220+5469G>A (n.*220+5469G>A) c.85G>A (p.Asp29Asn) c.112G>A (p.Asp38Asn) c.967G>A (p.Asp323Asn) c.781G>A (p.Asp261Asn) c.700G>A (p.Asp234Asn) c.406G>A (p.Asp136Asn) c.787G>A (p.Asp263Asn) | |
2 | g.48688756T>A | CA426124790 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1041A>T (p.Pro347=) c.948-617A>T (n.948-617A>T) c.3441+17076T>A (n.3441+17076T>A) c.948-173A>T (n.948-173A>T) c.960A>T (p.Pro320=) c.276+17076T>A (n.276+17076T>A) c.*220+5468A>T (n.*220+5468A>T) c.84A>T (p.Pro28=) c.111A>T (p.Pro37=) c.966A>T (p.Pro322=) c.780A>T (p.Pro260=) c.699A>T (p.Pro233=) c.405A>T (p.Pro135=) c.786A>T (p.Pro262=) | |
2 | g.48688756T>C | CA426124791 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1041A>G (p.Pro347=) c.948-617A>G (n.948-617A>G) c.3441+17076T>C (n.3441+17076T>C) c.948-173A>G (n.948-173A>G) c.960A>G (p.Pro320=) c.276+17076T>C (n.276+17076T>C) c.*220+5468A>G (n.*220+5468A>G) c.84A>G (p.Pro28=) c.111A>G (p.Pro37=) c.966A>G (p.Pro322=) c.780A>G (p.Pro260=) c.699A>G (p.Pro233=) c.405A>G (p.Pro135=) c.786A>G (p.Pro262=) | gnomAD v4 COSMIC |
2 | g.48688756T>G | CA426124792 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1041A>C (p.Pro347=) c.948-617A>C (n.948-617A>C) c.3441+17076T>G (n.3441+17076T>G) c.948-173A>C (n.948-173A>C) c.960A>C (p.Pro320=) c.276+17076T>G (n.276+17076T>G) c.*220+5468A>C (n.*220+5468A>C) c.84A>C (p.Pro28=) c.111A>C (p.Pro37=) c.966A>C (p.Pro322=) c.780A>C (p.Pro260=) c.699A>C (p.Pro233=) c.405A>C (p.Pro135=) c.786A>C (p.Pro262=) | |
2 | g.48688757G>A | CA346750013 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1040C>T (p.Pro347Leu) c.948-618C>T (n.948-618C>T) c.3441+17077G>A (n.3441+17077G>A) c.948-174C>T (n.948-174C>T) c.959C>T (p.Pro320Leu) c.276+17077G>A (n.276+17077G>A) c.*220+5467C>T (n.*220+5467C>T) c.83C>T (p.Pro28Leu) c.110C>T (p.Pro37Leu) c.965C>T (p.Pro322Leu) c.779C>T (p.Pro260Leu) c.698C>T (p.Pro233Leu) c.404C>T (p.Pro135Leu) c.785C>T (p.Pro262Leu) | |
2 | g.48688757G>C | CA346750014 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1040C>G (p.Pro347Arg) c.948-618C>G (n.948-618C>G) c.3441+17077G>C (n.3441+17077G>C) c.948-174C>G (n.948-174C>G) c.959C>G (p.Pro320Arg) c.276+17077G>C (n.276+17077G>C) c.*220+5467C>G (n.*220+5467C>G) c.83C>G (p.Pro28Arg) c.110C>G (p.Pro37Arg) c.965C>G (p.Pro322Arg) c.779C>G (p.Pro260Arg) c.698C>G (p.Pro233Arg) c.404C>G (p.Pro135Arg) c.785C>G (p.Pro262Arg) | |
2 | g.48688757G>T | CA346750017 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1040C>A (p.Pro347Gln) c.948-618C>A (n.948-618C>A) c.3441+17077G>T (n.3441+17077G>T) c.948-174C>A (n.948-174C>A) c.959C>A (p.Pro320Gln) c.276+17077G>T (n.276+17077G>T) c.*220+5467C>A (n.*220+5467C>A) c.83C>A (p.Pro28Gln) c.110C>A (p.Pro37Gln) c.965C>A (p.Pro322Gln) c.779C>A (p.Pro260Gln) c.698C>A (p.Pro233Gln) c.404C>A (p.Pro135Gln) c.785C>A (p.Pro262Gln) | |
2 | g.48688758G>A | CA346750018 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1039C>T (p.Pro347Ser) c.948-619C>T (n.948-619C>T) c.3441+17078G>A (n.3441+17078G>A) c.948-175C>T (n.948-175C>T) c.958C>T (p.Pro320Ser) c.276+17078G>A (n.276+17078G>A) c.*220+5466C>T (n.*220+5466C>T) c.82C>T (p.Pro28Ser) c.109C>T (p.Pro37Ser) c.964C>T (p.Pro322Ser) c.778C>T (p.Pro260Ser) c.697C>T (p.Pro233Ser) c.403C>T (p.Pro135Ser) c.784C>T (p.Pro262Ser) | |
2 | g.48688758G>C | CA1653091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1039C>G (p.Pro347Ala) c.948-619C>G (n.948-619C>G) c.3441+17078G>C (n.3441+17078G>C) c.948-175C>G (n.948-175C>G) c.958C>G (p.Pro320Ala) c.276+17078G>C (n.276+17078G>C) c.*220+5466C>G (n.*220+5466C>G) c.82C>G (p.Pro28Ala) c.109C>G (p.Pro37Ala) c.964C>G (p.Pro322Ala) c.778C>G (p.Pro260Ala) c.697C>G (p.Pro233Ala) c.403C>G (p.Pro135Ala) c.784C>G (p.Pro262Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688758G= | CA1248601259 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1039C= (p.Pro347=) c.948-619C= (n.948-619C=) c.3441+17078G= (n.3441+17078G=) c.948-175C= (n.948-175C=) c.958C= (p.Pro320=) c.276+17078G= (n.276+17078G=) c.*220+5466C= (n.*220+5466C=) c.82C= (p.Pro28=) c.109C= (p.Pro37=) c.964C= (p.Pro322=) c.778C= (p.Pro260=) c.697C= (p.Pro233=) c.403C= (p.Pro135=) c.784C= (p.Pro262=) | |
2 | g.48688758G>T | CA346750022 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1039C>A (p.Pro347Thr) c.948-619C>A (n.948-619C>A) c.3441+17078G>T (n.3441+17078G>T) c.948-175C>A (n.948-175C>A) c.958C>A (p.Pro320Thr) c.276+17078G>T (n.276+17078G>T) c.*220+5466C>A (n.*220+5466C>A) c.82C>A (p.Pro28Thr) c.109C>A (p.Pro37Thr) c.964C>A (p.Pro322Thr) c.778C>A (p.Pro260Thr) c.697C>A (p.Pro233Thr) c.403C>A (p.Pro135Thr) c.784C>A (p.Pro262Thr) | |
2 | g.48688759T>A | CA346750024 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1038A>T (p.Glu346Asp) c.948-620A>T (n.948-620A>T) c.3441+17079T>A (n.3441+17079T>A) c.948-176A>T (n.948-176A>T) c.957A>T (p.Glu319Asp) c.276+17079T>A (n.276+17079T>A) c.*220+5465A>T (n.*220+5465A>T) c.81A>T (p.Glu27Asp) c.108A>T (p.Glu36Asp) c.963A>T (p.Glu321Asp) c.777A>T (p.Glu259Asp) c.696A>T (p.Glu232Asp) c.402A>T (p.Glu134Asp) c.783A>T (p.Glu261Asp) | |
2 | g.48688759T>C | CA426124796 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1038A>G (p.Glu346=) c.948-620A>G (n.948-620A>G) c.3441+17079T>C (n.3441+17079T>C) c.948-176A>G (n.948-176A>G) c.957A>G (p.Glu319=) c.276+17079T>C (n.276+17079T>C) c.*220+5465A>G (n.*220+5465A>G) c.81A>G (p.Glu27=) c.108A>G (p.Glu36=) c.963A>G (p.Glu321=) c.777A>G (p.Glu259=) c.696A>G (p.Glu232=) c.402A>G (p.Glu134=) c.783A>G (p.Glu261=) | |
2 | g.48688759T>G | CA346750034 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1038A>C (p.Glu346Asp) c.948-620A>C (n.948-620A>C) c.3441+17079T>G (n.3441+17079T>G) c.948-176A>C (n.948-176A>C) c.957A>C (p.Glu319Asp) c.276+17079T>G (n.276+17079T>G) c.*220+5465A>C (n.*220+5465A>C) c.81A>C (p.Glu27Asp) c.108A>C (p.Glu36Asp) c.963A>C (p.Glu321Asp) c.777A>C (p.Glu259Asp) c.696A>C (p.Glu232Asp) c.402A>C (p.Glu134Asp) c.783A>C (p.Glu261Asp) | |
2 | g.48688760T>A | CA346750037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1037A>T (p.Glu346Val) c.948-621A>T (n.948-621A>T) c.3441+17080T>A (n.3441+17080T>A) c.948-177A>T (n.948-177A>T) c.956A>T (p.Glu319Val) c.276+17080T>A (n.276+17080T>A) c.*220+5464A>T (n.*220+5464A>T) c.80A>T (p.Glu27Val) c.107A>T (p.Glu36Val) c.962A>T (p.Glu321Val) c.776A>T (p.Glu259Val) c.695A>T (p.Glu232Val) c.401A>T (p.Glu134Val) c.782A>T (p.Glu261Val) | |
2 | g.48688760T>C | CA346750048 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1037A>G (p.Glu346Gly) c.948-621A>G (n.948-621A>G) c.3441+17080T>C (n.3441+17080T>C) c.948-177A>G (n.948-177A>G) c.956A>G (p.Glu319Gly) c.276+17080T>C (n.276+17080T>C) c.*220+5464A>G (n.*220+5464A>G) c.80A>G (p.Glu27Gly) c.107A>G (p.Glu36Gly) c.962A>G (p.Glu321Gly) c.776A>G (p.Glu259Gly) c.695A>G (p.Glu232Gly) c.401A>G (p.Glu134Gly) c.782A>G (p.Glu261Gly) |