Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.7631234_7631260del | CA2635890724 | SHBG | c.428_454del (p.Leu143_Leu151del) c.254_280del (p.Leu85_Leu93del) c.356-20_362del c.*386_*412del (n.*386_*412del) c.313-355_313-329del (n.313-355_313-329del) c.219+365_219+391del (n.219+365_219+391del) c.220-355_220-329del (n.220-355_220-329del) c.312+365_312+391del (n.312+365_312+391del) c.347_373del (p.Leu116_Leu124del) c.100-20_106del | gnomAD v4 |
17 | g.7631260C>A | CA397894210 | SHBG | c.454C>A (p.Arg152Ser) c.280C>A (p.Arg94Ser) c.362C>A (p.Ala121Glu) c.*412C>A (n.*412C>A) c.313-329C>A (n.313-329C>A) c.219+391C>A (n.219+391C>A) c.220-329C>A (n.220-329C>A) c.312+391C>A (n.312+391C>A) c.280C>A c.373C>A (p.Arg125Ser) c.106C>A (p.Arg36Ser) | gnomAD v4 |
17 | g.7631260C= | CA2245927904 | SHBG | c.454C= (p.Arg152=) c.280C= (p.Arg94=) c.362C= (p.Ala121=) c.*412C= (n.*412C=) c.313-329C= (n.313-329C=) c.219+391C= (n.219+391C=) c.220-329C= (n.220-329C=) c.312+391C= (n.312+391C=) c.280C= c.373C= (p.Arg125=) c.106C= (p.Arg36=) | |
17 | g.7631260C>G | CA397894211 | SHBG | c.454C>G (p.Arg152Gly) c.280C>G (p.Arg94Gly) c.362C>G (p.Ala121Gly) c.*412C>G (n.*412C>G) c.313-329C>G (n.313-329C>G) c.219+391C>G (n.219+391C>G) c.220-329C>G (n.220-329C>G) c.312+391C>G (n.312+391C>G) c.280C>G c.373C>G (p.Arg125Gly) c.106C>G (p.Arg36Gly) | |
17 | g.7631260C>T | CA8354269 | SHBG | c.454C>T (p.Arg152Cys) c.280C>T (p.Arg94Cys) c.362C>T (p.Ala121Val) c.*412C>T (n.*412C>T) c.313-329C>T (n.313-329C>T) c.219+391C>T (n.219+391C>T) c.220-329C>T (n.220-329C>T) c.312+391C>T (n.312+391C>T) c.280C>T c.373C>T (p.Arg125Cys) c.106C>T (p.Arg36Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7631261G>A | CA8354270 | SHBG | c.455G>A (p.Arg152His) c.281G>A (p.Arg94His) c.363G>A (p.Ala121=) c.*413G>A (n.*413G>A) c.313-328G>A (n.313-328G>A) c.219+392G>A (n.219+392G>A) c.220-328G>A (n.220-328G>A) c.312+392G>A (n.312+392G>A) c.374G>A (p.Arg125His) c.107G>A (p.Arg36His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7631261G>C | CA397894212 | SHBG | c.455G>C (p.Arg152Pro) c.281G>C (p.Arg94Pro) c.363G>C (p.Ala121=) c.*413G>C (n.*413G>C) c.313-328G>C (n.313-328G>C) c.219+392G>C (n.219+392G>C) c.220-328G>C (n.220-328G>C) c.312+392G>C (n.312+392G>C) c.374G>C (p.Arg125Pro) c.107G>C (p.Arg36Pro) | |
17 | g.7631261G= | CA2245927905 | SHBG | c.455G= (p.Arg152=) c.281G= (p.Arg94=) c.363G= (p.Ala121=) c.*413G= (n.*413G=) c.313-328G= (n.313-328G=) c.219+392G= (n.219+392G=) c.220-328G= (n.220-328G=) c.312+392G= (n.312+392G=) c.374G= (p.Arg125=) c.107G= (p.Arg36=) | |
17 | g.7631261G>T | CA397894213 | SHBG | c.455G>T (p.Arg152Leu) c.281G>T (p.Arg94Leu) c.363G>T (p.Ala121=) c.*413G>T (n.*413G>T) c.313-328G>T (n.313-328G>T) c.219+392G>T (n.219+392G>T) c.220-328G>T (n.220-328G>T) c.312+392G>T (n.312+392G>T) c.374G>T (p.Arg125Leu) c.107G>T (p.Arg36Leu) | |
17 | g.7631262C>A | CA497936555 | SHBG | c.456C>A (p.Arg152=) c.282C>A (p.Arg94=) c.364C>A (p.Pro122Thr) c.*414C>A (n.*414C>A) c.313-327C>A (n.313-327C>A) c.219+393C>A (n.219+393C>A) c.220-327C>A (n.220-327C>A) c.312+393C>A (n.312+393C>A) c.375C>A (p.Arg125=) c.108C>A (p.Arg36=) | gnomAD v4 |
17 | g.7631262C>G | CA497936556 | SHBG | c.456C>G (p.Arg152=) c.282C>G (p.Arg94=) c.364C>G (p.Pro122Ala) c.*414C>G (n.*414C>G) c.313-327C>G (n.313-327C>G) c.219+393C>G (n.219+393C>G) c.220-327C>G (n.220-327C>G) c.312+393C>G (n.312+393C>G) c.375C>G (p.Arg125=) c.108C>G (p.Arg36=) | |
17 | g.7631262C>T | CA497936557 | SHBG | c.456C>T (p.Arg152=) c.282C>T (p.Arg94=) c.364C>T (p.Pro122Ser) c.*414C>T (n.*414C>T) c.313-327C>T (n.313-327C>T) c.219+393C>T (n.219+393C>T) c.220-327C>T (n.220-327C>T) c.312+393C>T (n.312+393C>T) c.375C>T (p.Arg125=) c.108C>T (p.Arg36=) | |
17 | g.7631263C>A | CA397894214 | SHBG | c.457C>A (p.Leu153Met) c.283C>A (p.Leu95Met) c.365C>A (p.Pro122His) c.*415C>A (n.*415C>A) c.313-326C>A (n.313-326C>A) c.219+394C>A (n.219+394C>A) c.220-326C>A (n.220-326C>A) c.312+394C>A (n.312+394C>A) c.376C>A (p.Leu126Met) c.109C>A (p.Leu37Met) | |
17 | g.7631263C= | CA2245927906 | SHBG | c.457C= (p.Leu153=) c.283C= (p.Leu95=) c.365C= (p.Pro122=) c.*415C= (n.*415C=) c.313-326C= (n.313-326C=) c.219+394C= (n.219+394C=) c.220-326C= (n.220-326C=) c.312+394C= (n.312+394C=) c.376C= (p.Leu126=) c.109C= (p.Leu37=) | |
17 | g.7631263C>G | CA397894215 | SHBG | c.457C>G (p.Leu153Val) c.283C>G (p.Leu95Val) c.365C>G (p.Pro122Arg) c.*415C>G (n.*415C>G) c.313-326C>G (n.313-326C>G) c.219+394C>G (n.219+394C>G) c.220-326C>G (n.220-326C>G) c.312+394C>G (n.312+394C>G) c.376C>G (p.Leu126Val) c.109C>G (p.Leu37Val) | gnomAD v4 |
17 | g.7631263C>T | CA497936558 | SHBG | c.457C>T (p.Leu153=) c.283C>T (p.Leu95=) c.365C>T (p.Pro122Leu) c.*415C>T (n.*415C>T) c.313-326C>T (n.313-326C>T) c.219+394C>T (n.219+394C>T) c.220-326C>T (n.220-326C>T) c.312+394C>T (n.312+394C>T) c.376C>T (p.Leu126=) c.109C>T (p.Leu37=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7631264T>A | CA397894216 | SHBG | c.458T>A (p.Leu153Gln) c.284T>A (p.Leu95Gln) c.366T>A (p.Pro122=) c.*416T>A (n.*416T>A) c.313-325T>A (n.313-325T>A) c.219+395T>A (n.219+395T>A) c.220-325T>A (n.220-325T>A) c.312+395T>A (n.312+395T>A) c.377T>A (p.Leu126Gln) c.110T>A (p.Leu37Gln) | |
17 | g.7631264T>C | CA397894217 | SHBG | c.458T>C (p.Leu153Pro) c.284T>C (p.Leu95Pro) c.366T>C (p.Pro122=) c.*416T>C (n.*416T>C) c.313-325T>C (n.313-325T>C) c.219+395T>C (n.219+395T>C) c.220-325T>C (n.220-325T>C) c.312+395T>C (n.312+395T>C) c.377T>C (p.Leu126Pro) c.110T>C (p.Leu37Pro) | |
17 | g.7631264T>G | CA397894218 | SHBG | c.458T>G (p.Leu153Arg) c.284T>G (p.Leu95Arg) c.366T>G (p.Pro122=) c.*416T>G (n.*416T>G) c.313-325T>G (n.313-325T>G) c.219+395T>G (n.219+395T>G) c.220-325T>G (n.220-325T>G) c.312+395T>G (n.312+395T>G) c.377T>G (p.Leu126Arg) c.110T>G (p.Leu37Arg) | |
17 | g.7631265G>A | CA497936559 | SHBG | c.459G>A (p.Leu153=) c.285G>A (p.Leu95=) c.367G>A (p.Glu123Lys) c.*417G>A (n.*417G>A) c.313-324G>A (n.313-324G>A) c.219+396G>A (n.219+396G>A) c.220-324G>A (n.220-324G>A) c.312+396G>A (n.312+396G>A) c.378G>A (p.Leu126=) c.111G>A (p.Leu37=) | |
17 | g.7631265G>C | CA8354271 | SHBG | c.459G>C (p.Leu153=) c.285G>C (p.Leu95=) c.367G>C (p.Glu123Gln) c.*417G>C (n.*417G>C) c.313-324G>C (n.313-324G>C) c.219+396G>C (n.219+396G>C) c.220-324G>C (n.220-324G>C) c.312+396G>C (n.312+396G>C) c.378G>C (p.Leu126=) c.111G>C (p.Leu37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7631265G= | CA2245927907 | SHBG | c.459G= (p.Leu153=) c.285G= (p.Leu95=) c.367G= (p.Glu123=) c.*417G= (n.*417G=) c.313-324G= (n.313-324G=) c.219+396G= (n.219+396G=) c.220-324G= (n.220-324G=) c.312+396G= (n.312+396G=) c.378G= (p.Leu126=) c.111G= (p.Leu37=) | |
17 | g.7631265G>T | CA497936560 | SHBG | c.459G>T (p.Leu153=) c.285G>T (p.Leu95=) c.367G>T (p.Glu123Ter) c.*417G>T (n.*417G>T) c.313-324G>T (n.313-324G>T) c.219+396G>T (n.219+396G>T) c.220-324G>T (n.220-324G>T) c.312+396G>T (n.312+396G>T) c.378G>T (p.Leu126=) c.111G>T (p.Leu37=) | |
17 | g.7631265dup | CA2559505892 | SHBG | c.459dup (p.Arg154GlufsTer?) c.285dup (p.Arg96GlufsTer?) c.367dup (p.Glu123GlyfsTer8) c.*417dup (n.*417dup) c.313-324dup (n.313-324dup) c.219+396dup (n.219+396dup) c.220-324dup (n.220-324dup) c.312+396dup (n.312+396dup) c.378dup (p.Arg127GlufsTer?) c.111dup (p.Arg38GlufsTer?) | |
17 | g.7631266A>C | CA497936562 | SHBG | c.460A>C (p.Arg154=) c.286A>C (p.Arg96=) c.368A>C (p.Glu123Ala) c.*418A>C (n.*418A>C) c.313-323A>C (n.313-323A>C) c.219+397A>C (n.219+397A>C) c.220-323A>C (n.220-323A>C) c.312+397A>C (n.312+397A>C) c.379A>C (p.Arg127=) c.112A>C (p.Arg38=) | |
17 | g.7631266A>G | CA397894219 | SHBG | c.460A>G (p.Arg154Gly) c.286A>G (p.Arg96Gly) c.368A>G (p.Glu123Gly) c.*418A>G (n.*418A>G) c.313-323A>G (n.313-323A>G) c.219+397A>G (n.219+397A>G) c.220-323A>G (n.220-323A>G) c.312+397A>G (n.312+397A>G) c.379A>G (p.Arg127Gly) c.112A>G (p.Arg38Gly) | |
17 | g.7631266A>T | CA397894220 | SHBG | c.460A>T (p.Arg154Ter) c.286A>T (p.Arg96Ter) c.368A>T (p.Glu123Val) c.*418A>T (n.*418A>T) c.313-323A>T (n.313-323A>T) c.219+397A>T (n.219+397A>T) c.220-323A>T (n.220-323A>T) c.312+397A>T (n.312+397A>T) c.379A>T (p.Arg127Ter) c.112A>T (p.Arg38Ter) | |
17 | g.7631267G>A | CA397894221 | SHBG | c.461G>A (p.Arg154Lys) c.287G>A (p.Arg96Lys) c.369G>A (p.Glu123=) c.*419G>A (n.*419G>A) c.313-322G>A (n.313-322G>A) c.219+398G>A (n.219+398G>A) c.220-322G>A (n.220-322G>A) c.312+398G>A (n.312+398G>A) c.380G>A (p.Arg127Lys) c.113G>A (p.Arg38Lys) | dbSNP |
17 | g.7631267G>C | CA397894222 | SHBG | c.461G>C (p.Arg154Thr) c.287G>C (p.Arg96Thr) c.369G>C (p.Glu123Asp) c.*419G>C (n.*419G>C) c.313-322G>C (n.313-322G>C) c.219+398G>C (n.219+398G>C) c.220-322G>C (n.220-322G>C) c.312+398G>C (n.312+398G>C) c.380G>C (p.Arg127Thr) c.113G>C (p.Arg38Thr) | |
17 | g.7631267G= | CA2245927908 | SHBG | c.461G= (p.Arg154=) c.287G= (p.Arg96=) c.369G= (p.Glu123=) c.*419G= (n.*419G=) c.313-322G= (n.313-322G=) c.219+398G= (n.219+398G=) c.220-322G= (n.220-322G=) c.312+398G= (n.312+398G=) c.380G= (p.Arg127=) c.113G= (p.Arg38=) | |
17 | g.7631267G>T | CA397894223 | SHBG | c.461G>T (p.Arg154Ile) c.287G>T (p.Arg96Ile) c.369G>T (p.Glu123Asp) c.*419G>T (n.*419G>T) c.313-322G>T (n.313-322G>T) c.219+398G>T (n.219+398G>T) c.220-322G>T (n.220-322G>T) c.312+398G>T (n.312+398G>T) c.380G>T (p.Arg127Ile) c.113G>T (p.Arg38Ile) | |
17 | g.7631267_7631268insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG | CA2518165078 | SHBG | c.461_462insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG (p.Arg155GlyfsTer18) c.287_288insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG (p.Arg97GlyfsTer18) c.369_370insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG (p.Glu123_Thr124insGlyLeuAlaAspIleProAlaIleValProThrValSerAlaGlyLysGlyLeuThrProAlaGlnLysArgArgArgAlaIleGlyHisAlaLeuAlaTyrGlyGlyTyrValGluIleLeuPro) c.*419_*420insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG (n.*419_*420insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG) c.313-322_313-321insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG (n.313-322_313-321insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG) c.219+398_219+399insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG (n.219+398_219+399insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG) c.220-322_220-321insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG (n.220-322_220-321insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG) c.312+398_312+399insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG (n.312+398_312+399insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG) c.380_381insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG (p.Arg128GlyfsTer18) c.113_114insGGGTTGGCGGATATTCCCGCGATTGTGCCAACCGTGTCGGCGGGTAAGGGATTGACTCCGGCCCAGAAGCGGCGGCGGGCCATTGGGCATGCGTTGGCTTATGGCGGTTATGTGGAGATTTTGCCG (p.Arg39GlyfsTer18) | |
17 | g.7631268A>C | CA397894224 | SHBG | c.462A>C (p.Arg154Ser) c.288A>C (p.Arg96Ser) c.370A>C (p.Thr124Pro) c.*420A>C (n.*420A>C) c.313-321A>C (n.313-321A>C) c.219+399A>C (n.219+399A>C) c.220-321A>C (n.220-321A>C) c.312+399A>C (n.312+399A>C) c.381A>C (p.Arg127Ser) c.114A>C (p.Arg38Ser) | |
17 | g.7631268A>G | CA497936563 | SHBG | c.462A>G (p.Arg154=) c.288A>G (p.Arg96=) c.370A>G (p.Thr124Ala) c.*420A>G (n.*420A>G) c.313-321A>G (n.313-321A>G) c.219+399A>G (n.219+399A>G) c.220-321A>G (n.220-321A>G) c.312+399A>G (n.312+399A>G) c.381A>G (p.Arg127=) c.114A>G (p.Arg38=) | |
17 | g.7631268A>T | CA397894225 | SHBG | c.462A>T (p.Arg154Ser) c.288A>T (p.Arg96Ser) c.370A>T (p.Thr124Ser) c.*420A>T (n.*420A>T) c.313-321A>T (n.313-321A>T) c.219+399A>T (n.219+399A>T) c.220-321A>T (n.220-321A>T) c.312+399A>T (n.312+399A>T) c.381A>T (p.Arg127Ser) c.114A>T (p.Arg38Ser) | |
17 | g.7631269C>A | CA397894226 | SHBG | c.463C>A (p.Gln155Lys) c.289C>A (p.Gln97Lys) c.371C>A (p.Thr124Lys) c.*421C>A (n.*421C>A) c.313-320C>A (n.313-320C>A) c.219+400C>A (n.219+400C>A) c.220-320C>A (n.220-320C>A) c.312+400C>A (n.312+400C>A) c.382C>A (p.Gln128Lys) c.115C>A (p.Gln39Lys) | |
17 | g.7631269C>G | CA397894227 | SHBG | c.463C>G (p.Gln155Glu) c.289C>G (p.Gln97Glu) c.371C>G (p.Thr124Arg) c.*421C>G (n.*421C>G) c.313-320C>G (n.313-320C>G) c.219+400C>G (n.219+400C>G) c.220-320C>G (n.220-320C>G) c.312+400C>G (n.312+400C>G) c.382C>G (p.Gln128Glu) c.115C>G (p.Gln39Glu) | |
17 | g.7631269C>T | CA397894228 | SHBG | c.463C>T (p.Gln155Ter) c.289C>T (p.Gln97Ter) c.371C>T (p.Thr124Ile) c.*421C>T (n.*421C>T) c.313-320C>T (n.313-320C>T) c.219+400C>T (n.219+400C>T) c.220-320C>T (n.220-320C>T) c.312+400C>T (n.312+400C>T) c.382C>T (p.Gln128Ter) c.115C>T (p.Gln39Ter) | |
17 | g.7631270A= | CA2245927909 | SHBG | c.464A= (p.Gln155=) c.290A= (p.Gln97=) c.372A= (p.Thr124=) c.*422A= (n.*422A=) c.313-319A= (n.313-319A=) c.219+401A= (n.219+401A=) c.220-319A= (n.220-319A=) c.312+401A= (n.312+401A=) c.383A= (p.Gln128=) c.116A= (p.Gln39=) | |
17 | g.7631270A>C | CA397894229 | SHBG | c.464A>C (p.Gln155Pro) c.290A>C (p.Gln97Pro) c.372A>C (p.Thr124=) c.*422A>C (n.*422A>C) c.313-319A>C (n.313-319A>C) c.219+401A>C (n.219+401A>C) c.220-319A>C (n.220-319A>C) c.312+401A>C (n.312+401A>C) c.383A>C (p.Gln128Pro) c.116A>C (p.Gln39Pro) | |
17 | g.7631270A>G | CA8354272 | SHBG | c.464A>G (p.Gln155Arg) c.290A>G (p.Gln97Arg) c.372A>G (p.Thr124=) c.*422A>G (n.*422A>G) c.313-319A>G (n.313-319A>G) c.219+401A>G (n.219+401A>G) c.220-319A>G (n.220-319A>G) c.312+401A>G (n.312+401A>G) c.383A>G (p.Gln128Arg) c.116A>G (p.Gln39Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.7631270A>T | CA397894230 | SHBG | c.464A>T (p.Gln155Leu) c.290A>T (p.Gln97Leu) c.372A>T (p.Thr124=) c.*422A>T (n.*422A>T) c.313-319A>T (n.313-319A>T) c.219+401A>T (n.219+401A>T) c.220-319A>T (n.220-319A>T) c.312+401A>T (n.312+401A>T) c.383A>T (p.Gln128Leu) c.116A>T (p.Gln39Leu) | |
17 | g.7631271G>A | CA497936566 | SHBG | c.465G>A (p.Gln155=) c.291G>A (p.Gln97=) c.373G>A (p.Gly125Ser) c.*423G>A (n.*423G>A) c.313-318G>A (n.313-318G>A) c.219+402G>A (n.219+402G>A) c.220-318G>A (n.220-318G>A) c.312+402G>A (n.312+402G>A) c.384G>A (p.Gln128=) c.117G>A (p.Gln39=) | |
17 | g.7631271G>C | CA397894231 | SHBG | c.465G>C (p.Gln155His) c.291G>C (p.Gln97His) c.373G>C (p.Gly125Arg) c.*423G>C (n.*423G>C) c.313-318G>C (n.313-318G>C) c.219+402G>C (n.219+402G>C) c.220-318G>C (n.220-318G>C) c.312+402G>C (n.312+402G>C) c.384G>C (p.Gln128His) c.117G>C (p.Gln39His) | |
17 | g.7631271G>T | CA397894232 | SHBG | c.465G>T (p.Gln155His) c.291G>T (p.Gln97His) c.373G>T (p.Gly125Cys) c.*423G>T (n.*423G>T) c.313-318G>T (n.313-318G>T) c.219+402G>T (n.219+402G>T) c.220-318G>T (n.220-318G>T) c.312+402G>T (n.312+402G>T) c.384G>T (p.Gln128His) c.117G>T (p.Gln39His) | |
17 | g.7631272G>A | CA397894233 | SHBG | c.466G>A (p.Val156Ile) c.292G>A (p.Val98Ile) c.374G>A (p.Gly125Asp) c.*424G>A (n.*424G>A) c.313-317G>A (n.313-317G>A) c.219+403G>A (n.219+403G>A) c.220-317G>A (n.220-317G>A) c.312+403G>A (n.312+403G>A) c.385G>A (p.Val129Ile) c.118G>A (p.Val40Ile) | gnomAD v4 |
17 | g.7631272G>C | CA397894234 | SHBG | c.466G>C (p.Val156Leu) c.292G>C (p.Val98Leu) c.374G>C (p.Gly125Ala) c.*424G>C (n.*424G>C) c.313-317G>C (n.313-317G>C) c.219+403G>C (n.219+403G>C) c.220-317G>C (n.220-317G>C) c.312+403G>C (n.312+403G>C) c.385G>C (p.Val129Leu) c.118G>C (p.Val40Leu) | |
17 | g.7631272G>T | CA397894235 | SHBG | c.466G>T (p.Val156Phe) c.292G>T (p.Val98Phe) c.374G>T (p.Gly125Val) c.*424G>T (n.*424G>T) c.313-317G>T (n.313-317G>T) c.219+403G>T (n.219+403G>T) c.220-317G>T (n.220-317G>T) c.312+403G>T (n.312+403G>T) c.385G>T (p.Val129Phe) c.118G>T (p.Val40Phe) | |
17 | g.7631273T>A | CA397894236 | SHBG | c.467T>A (p.Val156Asp) c.293T>A (p.Val98Asp) c.375T>A (p.Gly125=) c.*425T>A (n.*425T>A) c.313-316T>A (n.313-316T>A) c.219+404T>A (n.219+404T>A) c.220-316T>A (n.220-316T>A) c.312+404T>A (n.312+404T>A) c.386T>A (p.Val129Asp) c.119T>A (p.Val40Asp) | dbSNP |
17 | g.7631273T>C | CA397894238 | SHBG | c.467T>C (p.Val156Ala) c.293T>C (p.Val98Ala) c.375T>C (p.Gly125=) c.*425T>C (n.*425T>C) c.313-316T>C (n.313-316T>C) c.219+404T>C (n.219+404T>C) c.220-316T>C (n.220-316T>C) c.312+404T>C (n.312+404T>C) c.386T>C (p.Val129Ala) c.119T>C (p.Val40Ala) |