Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.161410946_161410947delinsAG | CA1596016620 | GABRB2 | c.541+28_541+29delinsCT (n.541+28_541+29delinsCT) n.623+28_623+29delinsCT c.289+28_289+29delinsCT (n.289+28_289+29delinsCT) c.61+28_61+29delinsCT (n.61+28_61+29delinsCT) c.352+28_352+29delinsCT (n.352+28_352+29delinsCT) | |
5 | g.161410947del | CA1596016621 | GABRB2 | c.541+28del (n.541+28del) n.623+28del c.289+28del (n.289+28del) c.61+28del (n.61+28del) c.352+28del (n.352+28del) | dbSNP |
5 | g.161410947G>A | CA2578474115 | GABRB2 | c.541+28C>T (n.541+28C>T) n.623+28C>T c.289+28C>T (n.289+28C>T) c.61+28C>T (n.61+28C>T) c.352+28C>T (n.352+28C>T) | gnomAD v4 |
5 | g.161410947G>C | CA2676313971 | GABRB2 | c.541+28C>G (n.541+28C>G) n.623+28C>G c.289+28C>G (n.289+28C>G) c.61+28C>G (n.61+28C>G) c.352+28C>G (n.352+28C>G) | gnomAD v4 |
5 | g.161410947G>T | CA2676313972 | GABRB2 | c.541+28C>A (n.541+28C>A) n.623+28C>A c.289+28C>A (n.289+28C>A) c.61+28C>A (n.61+28C>A) c.352+28C>A (n.352+28C>A) | gnomAD v4 |
5 | g.161410948T>A | CA2676313973 | GABRB2 | c.541+27A>T (n.541+27A>T) n.623+27A>T c.289+27A>T (n.289+27A>T) c.61+27A>T (n.61+27A>T) c.352+27A>T (n.352+27A>T) | gnomAD v4 |
5 | g.161410949C= | CA1596016622 | GABRB2 | c.541+26G= (n.541+26G=) n.623+26G= c.289+26G= (n.289+26G=) c.61+26G= (n.61+26G=) c.352+26G= (n.352+26G=) | |
5 | g.161410949C>G | CA3543571 | GABRB2 | c.541+26G>C (n.541+26G>C) n.623+26G>C c.289+26G>C (n.289+26G>C) c.61+26G>C (n.61+26G>C) c.352+26G>C (n.352+26G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.161410950T>C | CA2676313974 | GABRB2 | c.541+25A>G (n.541+25A>G) n.623+25A>G c.289+25A>G (n.289+25A>G) c.61+25A>G (n.61+25A>G) c.352+25A>G (n.352+25A>G) | gnomAD v4 |
5 | g.161410951del | CA2676313975 | GABRB2 | c.541+24del (n.541+24del) n.623+24del c.289+24del (n.289+24del) c.61+24del (n.61+24del) c.352+24del (n.352+24del) | gnomAD v4 |
5 | g.161410952G= | CA1596016623 | GABRB2 | c.541+23C= (n.541+23C=) n.623+23C= c.289+23C= (n.289+23C=) c.61+23C= (n.61+23C=) c.352+23C= (n.352+23C=) | |
5 | g.161410952G>T | CA3543572 | GABRB2 | c.541+23C>A (n.541+23C>A) n.623+23C>A c.289+23C>A (n.289+23C>A) c.61+23C>A (n.61+23C>A) c.352+23C>A (n.352+23C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.161410953C>T | CA2676313976 | GABRB2 | c.541+22G>A (n.541+22G>A) n.623+22G>A c.289+22G>A (n.289+22G>A) c.61+22G>A (n.61+22G>A) c.352+22G>A (n.352+22G>A) | gnomAD v4 |
5 | g.161410954T>C | CA131028742 | GABRB2 | c.541+21A>G (n.541+21A>G) n.623+21A>G c.289+21A>G (n.289+21A>G) c.61+21A>G (n.61+21A>G) c.352+21A>G (n.352+21A>G) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.161410954T= | CA1596016624 | GABRB2 | c.541+21A= (n.541+21A=) n.623+21A= c.289+21A= (n.289+21A=) c.61+21A= (n.61+21A=) c.352+21A= (n.352+21A=) | |
5 | g.161410956del | CA2676313977 | GABRB2 | c.541+20del (n.541+20del) n.623+20del c.289+20del (n.289+20del) c.61+20del (n.61+20del) c.352+20del (n.352+20del) | gnomAD v4 |
5 | g.161410956G>T | CA2676313978 | GABRB2 | c.541+19C>A (n.541+19C>A) n.623+19C>A c.289+19C>A (n.289+19C>A) c.61+19C>A (n.61+19C>A) c.352+19C>A (n.352+19C>A) | gnomAD v4 |
5 | g.161410958T>C | CA2676313979 | GABRB2 | c.541+17A>G (n.541+17A>G) n.623+17A>G c.289+17A>G (n.289+17A>G) c.61+17A>G (n.61+17A>G) c.352+17A>G (n.352+17A>G) | gnomAD v4 |
5 | g.161410963A= | CA1596016625 | GABRB2 | c.541+12T= (n.541+12T=) n.623+12T= c.289+12T= (n.289+12T=) c.61+12T= (n.61+12T=) c.352+12T= (n.352+12T=) | |
5 | g.161410963A>C | CA806572598 | GABRB2 | c.541+12T>G (n.541+12T>G) n.623+12T>G c.289+12T>G (n.289+12T>G) c.61+12T>G (n.61+12T>G) c.352+12T>G (n.352+12T>G) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.161410964G>A | CA3543573 | GABRB2 | c.541+11C>T (n.541+11C>T) n.623+11C>T c.289+11C>T (n.289+11C>T) c.61+11C>T (n.61+11C>T) c.352+11C>T (n.352+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.161410964G= | CA1596016626 | GABRB2 | c.541+11C= (n.541+11C=) n.623+11C= c.289+11C= (n.289+11C=) c.61+11C= (n.61+11C=) c.352+11C= (n.352+11C=) | |
5 | g.161410964G>T | CA2676313980 | GABRB2 | c.541+11C>A (n.541+11C>A) n.623+11C>A c.289+11C>A (n.289+11C>A) c.61+11C>A (n.61+11C>A) c.352+11C>A (n.352+11C>A) | gnomAD v4 |
5 | g.161410967C= | CA1596016627 | GABRB2 | c.541+8G= (n.541+8G=) n.623+8G= c.289+8G= (n.289+8G=) c.61+8G= (n.61+8G=) c.352+8G= (n.352+8G=) | |
5 | g.161410967C>T | CA1596016628 | GABRB2 | c.541+8G>A (n.541+8G>A) n.623+8G>A c.289+8G>A (n.289+8G>A) c.61+8G>A (n.61+8G>A) c.352+8G>A (n.352+8G>A) | ClinVar dbSNP gnomAD v4 |
5 | g.161410968G>A | CA3543574 | GABRB2 | c.541+7C>T (n.541+7C>T) n.623+7C>T c.289+7C>T (n.289+7C>T) c.61+7C>T (n.61+7C>T) c.352+7C>T (n.352+7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.161410968G>C | CA3543575 | GABRB2 | c.541+7C>G (n.541+7C>G) n.623+7C>G c.289+7C>G (n.289+7C>G) c.61+7C>G (n.61+7C>G) c.352+7C>G (n.352+7C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.161410968G= | CA1596016629 | GABRB2 | c.541+7C= (n.541+7C=) n.623+7C= c.289+7C= (n.289+7C=) c.61+7C= (n.61+7C=) c.352+7C= (n.352+7C=) | |
5 | g.161410968G>T | CA2676313981 | GABRB2 | c.541+7C>A (n.541+7C>A) n.623+7C>A c.289+7C>A (n.289+7C>A) c.61+7C>A (n.61+7C>A) c.352+7C>A (n.352+7C>A) | gnomAD v4 |
5 | g.161410969A>G | CA2710530710 | GABRB2 | c.541+6T>C (n.541+6T>C) n.623+6T>C c.289+6T>C (n.289+6T>C) c.61+6T>C (n.61+6T>C) c.352+6T>C (n.352+6T>C) | dbSNP |
5 | g.161410969A>T | CA2676313982 | GABRB2 | c.541+6T>A (n.541+6T>A) n.623+6T>A c.289+6T>A (n.289+6T>A) c.61+6T>A (n.61+6T>A) c.352+6T>A (n.352+6T>A) | gnomAD v4 |
5 | g.161410971T>C | CA131028743 | GABRB2 | c.541+4A>G (n.541+4A>G) n.623+4A>G c.289+4A>G (n.289+4A>G) c.61+4A>G (n.61+4A>G) c.352+4A>G (n.352+4A>G) | dbSNP |
5 | g.161410971T= | CA1596016630 | GABRB2 | c.541+4A= (n.541+4A=) n.623+4A= c.289+4A= (n.289+4A=) c.61+4A= (n.61+4A=) c.352+4A= (n.352+4A=) | |
5 | g.161410972T>C | CA2676313983 | GABRB2 | c.541+3A>G (n.541+3A>G) n.623+3A>G c.289+3A>G (n.289+3A>G) c.61+3A>G (n.61+3A>G) c.352+3A>G (n.352+3A>G) | gnomAD v4 |
5 | g.161410973A>C | CA362172093 | GABRB2 | c.541+2T>G (n.541+2T>G) n.623+2T>G c.289+2T>G (n.289+2T>G) c.61+2T>G (n.61+2T>G) c.352+2T>G (n.352+2T>G) | |
5 | g.161410973A>G | CA362172094 | GABRB2 | c.541+2T>C (n.541+2T>C) n.623+2T>C c.289+2T>C (n.289+2T>C) c.61+2T>C (n.61+2T>C) c.352+2T>C (n.352+2T>C) | |
5 | g.161410973A>T | CA362172095 | GABRB2 | c.541+2T>A (n.541+2T>A) n.623+2T>A c.289+2T>A (n.289+2T>A) c.61+2T>A (n.61+2T>A) c.352+2T>A (n.352+2T>A) | |
5 | g.161410974C>A | CA362172096 | GABRB2 | c.541+1G>T (n.541+1G>T) n.623+1G>T c.289+1G>T (n.289+1G>T) c.61+1G>T (n.61+1G>T) c.352+1G>T (n.352+1G>T) | |
5 | g.161410974C= | CA1596016631 | GABRB2 | c.541+1G= (n.541+1G=) n.623+1G= c.289+1G= (n.289+1G=) c.61+1G= (n.61+1G=) c.352+1G= (n.352+1G=) | |
5 | g.161410974C>G | CA362172097 | GABRB2 | c.541+1G>C (n.541+1G>C) n.623+1G>C c.289+1G>C (n.289+1G>C) c.61+1G>C (n.61+1G>C) c.352+1G>C (n.352+1G>C) | |
5 | g.161410974C>T | CA3543576 | GABRB2 | c.541+1G>A (n.541+1G>A) n.623+1G>A c.289+1G>A (n.289+1G>A) c.61+1G>A (n.61+1G>A) c.352+1G>A (n.352+1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.161410975A>C | CA362172098 | GABRB2 | c.541T>G (p.Tyr181Asp) n.623T>G c.289T>G (p.Tyr97Asp) c.61T>G (p.Tyr21Asp) c.352T>G (p.Tyr118Asp) | |
5 | g.161410975A>G | CA362172099 | GABRB2 | c.541T>C (p.Tyr181His) n.623T>C c.289T>C (p.Tyr97His) c.61T>C (p.Tyr21His) c.352T>C (p.Tyr118His) | |
5 | g.161410975A>T | CA362172100 | GABRB2 | c.541T>A (p.Tyr181Asn) n.623T>A c.289T>A (p.Tyr97Asn) c.61T>A (p.Tyr21Asn) c.352T>A (p.Tyr118Asn) | |
5 | g.161410976G>A | CA447605067 | GABRB2 | c.540C>T (p.Ser180=) n.622C>T c.288C>T (p.Ser96=) c.60C>T (p.Ser20=) c.351C>T (p.Ser117=) | |
5 | g.161410976G>C | CA362172101 | GABRB2 | c.540C>G (p.Ser180Arg) n.622C>G c.288C>G (p.Ser96Arg) c.60C>G (p.Ser20Arg) c.351C>G (p.Ser117Arg) | |
5 | g.161410976G>T | CA362172102 | GABRB2 | c.540C>A (p.Ser180Arg) n.622C>A c.288C>A (p.Ser96Arg) c.60C>A (p.Ser20Arg) c.351C>A (p.Ser117Arg) | |
5 | g.161410977C>A | CA362172103 | GABRB2 | c.539G>T (p.Ser180Ile) n.621G>T c.287G>T (p.Ser96Ile) c.59G>T (p.Ser20Ile) c.350G>T (p.Ser117Ile) | |
5 | g.161410977C>G | CA362172104 | GABRB2 | c.539G>C (p.Ser180Thr) n.621G>C c.287G>C (p.Ser96Thr) c.59G>C (p.Ser20Thr) c.350G>C (p.Ser117Thr) | |
5 | g.161410977C>T | CA362172105 | GABRB2 | c.539G>A (p.Ser180Asn) n.621G>A c.287G>A (p.Ser96Asn) c.59G>A (p.Ser20Asn) c.350G>A (p.Ser117Asn) | |
5 | g.161410978T>A | CA362172106 | GABRB2 | c.538A>T (p.Ser180Cys) n.620A>T c.286A>T (p.Ser96Cys) c.58A>T (p.Ser20Cys) c.349A>T (p.Ser117Cys) | |
5 | g.161410978T>C | CA362172107 | GABRB2 | c.538A>G (p.Ser180Gly) n.620A>G c.286A>G (p.Ser96Gly) c.58A>G (p.Ser20Gly) c.349A>G (p.Ser117Gly) | |
5 | g.161410978T>G | CA362172108 | GABRB2 | c.538A>C (p.Ser180Arg) n.620A>C c.286A>C (p.Ser96Arg) c.58A>C (p.Ser20Arg) c.349A>C (p.Ser117Arg) | |
5 | g.161410979C>A | CA362172110 | GABRB2 | c.537G>T (p.Glu179Asp) n.619G>T c.285G>T (p.Glu95Asp) c.57G>T (p.Glu19Asp) c.348G>T (p.Glu116Asp) | |
5 | g.161410979C>G | CA362172109 | GABRB2 | c.537G>C (p.Glu179Asp) n.619G>C c.285G>C (p.Glu95Asp) c.57G>C (p.Glu19Asp) c.348G>C (p.Glu116Asp) | |
5 | g.161410979C>T | CA447605068 | GABRB2 | c.537G>A (p.Glu179=) n.619G>A c.285G>A (p.Glu95=) c.57G>A (p.Glu19=) c.348G>A (p.Glu116=) | |
5 | g.161410980T>A | CA362172111 | GABRB2 | c.536A>T (p.Glu179Val) n.618A>T c.284A>T (p.Glu95Val) c.56A>T (p.Glu19Val) c.347A>T (p.Glu116Val) | |
5 | g.161410980T>C | CA362172112 | GABRB2 | c.536A>G (p.Glu179Gly) n.618A>G c.284A>G (p.Glu95Gly) c.56A>G (p.Glu19Gly) c.347A>G (p.Glu116Gly) | |
5 | g.161410980T>G | CA362172113 | GABRB2 | c.536A>C (p.Glu179Ala) n.618A>C c.284A>C (p.Glu95Ala) c.56A>C (p.Glu19Ala) c.347A>C (p.Glu116Ala) | |
5 | g.161410981C>A | CA362172114 | GABRB2 | c.535G>T (p.Glu179Ter) n.617G>T c.283G>T (p.Glu95Ter) c.55G>T (p.Glu19Ter) c.346G>T (p.Glu116Ter) | |
5 | g.161410981C>G | CA362172115 | GABRB2 | c.535G>C (p.Glu179Gln) n.617G>C c.283G>C (p.Glu95Gln) c.55G>C (p.Glu19Gln) c.346G>C (p.Glu116Gln) | |
5 | g.161410981C>T | CA362172116 | GABRB2 | c.535G>A (p.Glu179Lys) n.617G>A c.283G>A (p.Glu95Lys) c.55G>A (p.Glu19Lys) c.346G>A (p.Glu116Lys) | ClinVar |
5 | g.161410982A= | CA1596016632 | GABRB2 | c.534T= (p.Ile178=) n.616T= c.282T= (p.Ile94=) c.54T= (p.Ile18=) c.345T= (p.Ile115=) | |
5 | g.161410982A>C | CA362172117 | GABRB2 | c.534T>G (p.Ile178Met) n.616T>G c.282T>G (p.Ile94Met) c.54T>G (p.Ile18Met) c.345T>G (p.Ile115Met) | |
5 | g.161410982A>G | CA447605069 | GABRB2 | c.534T>C (p.Ile178=) n.616T>C c.282T>C (p.Ile94=) c.54T>C (p.Ile18=) c.345T>C (p.Ile115=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.161410982A>T | CA447605070 | GABRB2 | c.534T>A (p.Ile178=) n.616T>A c.282T>A (p.Ile94=) c.54T>A (p.Ile18=) c.345T>A (p.Ile115=) | |
5 | g.161410983A>C | CA362172120 | GABRB2 | c.533T>G (p.Ile178Ser) n.615T>G c.281T>G (p.Ile94Ser) c.53T>G (p.Ile18Ser) c.344T>G (p.Ile115Ser) | |
5 | g.161410983A>G | CA362172118 | GABRB2 | c.533T>C (p.Ile178Thr) n.615T>C c.281T>C (p.Ile94Thr) c.53T>C (p.Ile18Thr) c.344T>C (p.Ile115Thr) | |
5 | g.161410983A>T | CA362172119 | GABRB2 | c.533T>A (p.Ile178Asn) n.615T>A c.281T>A (p.Ile94Asn) c.53T>A (p.Ile18Asn) c.344T>A (p.Ile115Asn) | |
5 | g.161410984T>A | CA362172121 | GABRB2 | c.532A>T (p.Ile178Phe) n.614A>T c.280A>T (p.Ile94Phe) c.52A>T (p.Ile18Phe) c.343A>T (p.Ile115Phe) | |
5 | g.161410984T>C | CA362172122 | GABRB2 | c.532A>G (p.Ile178Val) n.614A>G c.280A>G (p.Ile94Val) c.52A>G (p.Ile18Val) c.343A>G (p.Ile115Val) | |
5 | g.161410984T>G | CA362172123 | GABRB2 | c.532A>C (p.Ile178Leu) n.614A>C c.280A>C (p.Ile94Leu) c.52A>C (p.Ile18Leu) c.343A>C (p.Ile115Leu) | |
5 | g.161410985T>A | CA362172124 | GABRB2 | c.531A>T (p.Glu177Asp) n.613A>T c.279A>T (p.Glu93Asp) c.51A>T (p.Glu17Asp) c.342A>T (p.Glu114Asp) | |
5 | g.161410985T>C | CA447605071 | GABRB2 | c.531A>G (p.Glu177=) n.613A>G c.279A>G (p.Glu93=) c.51A>G (p.Glu17=) c.342A>G (p.Glu114=) | |
5 | g.161410985T>G | CA362172125 | GABRB2 | c.531A>C (p.Glu177Asp) n.613A>C c.279A>C (p.Glu93Asp) c.51A>C (p.Glu17Asp) c.342A>C (p.Glu114Asp) | |
5 | g.161410986T>A | CA362172126 | GABRB2 | c.530A>T (p.Glu177Val) n.612A>T c.278A>T (p.Glu93Val) c.50A>T (p.Glu17Val) c.341A>T (p.Glu114Val) | |
5 | g.161410986T>C | CA362172128 | GABRB2 | c.530A>G (p.Glu177Gly) n.612A>G c.278A>G (p.Glu93Gly) c.50A>G (p.Glu17Gly) c.341A>G (p.Glu114Gly) | |
5 | g.161410986T>G | CA362172127 | GABRB2 | c.530A>C (p.Glu177Ala) n.612A>C c.278A>C (p.Glu93Ala) c.50A>C (p.Glu17Ala) c.341A>C (p.Glu114Ala) | |
5 | g.161410987C>A | CA362172129 | GABRB2 | c.529G>T (p.Glu177Ter) n.611G>T c.277G>T (p.Glu93Ter) c.49G>T (p.Glu17Ter) c.340G>T (p.Glu114Ter) | |
5 | g.161410987C>G | CA362172130 | GABRB2 | c.529G>C (p.Glu177Gln) n.611G>C c.277G>C (p.Glu93Gln) c.49G>C (p.Glu17Gln) c.340G>C (p.Glu114Gln) | |
5 | g.161410987C>T | CA362172131 | GABRB2 | c.529G>A (p.Glu177Lys) n.611G>A c.277G>A (p.Glu93Lys) c.49G>A (p.Glu17Lys) c.340G>A (p.Glu114Lys) | |
5 | g.161410988C>A | CA362172132 | GABRB2 | c.528G>T (p.Leu176Phe) n.610G>T c.276G>T (p.Leu92Phe) c.48G>T (p.Leu16Phe) c.339G>T (p.Leu113Phe) | COSMIC COSMIC |
5 | g.161410988C= | CA1596016633 | GABRB2 | c.528G= (p.Leu176=) n.610G= c.276G= (p.Leu92=) c.48G= (p.Leu16=) c.339G= (p.Leu113=) | |
5 | g.161410988C>G | CA362172133 | GABRB2 | c.528G>C (p.Leu176Phe) n.610G>C c.276G>C (p.Leu92Phe) c.48G>C (p.Leu16Phe) c.339G>C (p.Leu113Phe) | |
5 | g.161410988C>T | CA447605072 | GABRB2 | c.528G>A (p.Leu176=) n.610G>A c.276G>A (p.Leu92=) c.48G>A (p.Leu16=) c.339G>A (p.Leu113=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.161410989A>C | CA362172134 | GABRB2 | c.527T>G (p.Leu176Trp) n.609T>G c.275T>G (p.Leu92Trp) c.47T>G (p.Leu16Trp) c.338T>G (p.Leu113Trp) | |
5 | g.161410989A>G | CA362172135 | GABRB2 | c.527T>C (p.Leu176Ser) n.609T>C c.275T>C (p.Leu92Ser) c.47T>C (p.Leu16Ser) c.338T>C (p.Leu113Ser) | |
5 | g.161410989A>T | CA362172136 | GABRB2 | c.527T>A (p.Leu176Ter) n.609T>A c.275T>A (p.Leu92Ter) c.47T>A (p.Leu16Ter) c.338T>A (p.Leu113Ter) | |
5 | g.161410990A>C | CA362172137 | GABRB2 | c.526T>G (p.Leu176Val) n.608T>G c.274T>G (p.Leu92Val) c.46T>G (p.Leu16Val) c.337T>G (p.Leu113Val) | |
5 | g.161410990A>G | CA447605073 | GABRB2 | c.526T>C (p.Leu176=) n.608T>C c.274T>C (p.Leu92=) c.46T>C (p.Leu16=) c.337T>C (p.Leu113=) | gnomAD v4 |
5 | g.161410990A>T | CA362172138 | GABRB2 | c.526T>A (p.Leu176Met) n.608T>A c.274T>A (p.Leu92Met) c.46T>A (p.Leu16Met) c.337T>A (p.Leu113Met) | |
5 | g.161410991G>A | CA3543577 | GABRB2 | c.525C>T (p.Thr175=) n.607C>T c.273C>T (p.Thr91=) c.45C>T (p.Thr15=) c.336C>T (p.Thr112=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.161410991G>C | CA447605075 | GABRB2 | c.525C>G (p.Thr175=) n.607C>G c.273C>G (p.Thr91=) c.45C>G (p.Thr15=) c.336C>G (p.Thr112=) | |
5 | g.161410991G= | CA1596016634 | GABRB2 | c.525C= (p.Thr175=) n.607C= c.273C= (p.Thr91=) c.45C= (p.Thr15=) c.336C= (p.Thr112=) | |
5 | g.161410991G>T | CA447605074 | GABRB2 | c.525C>A (p.Thr175=) n.607C>A c.273C>A (p.Thr91=) c.45C>A (p.Thr15=) c.336C>A (p.Thr112=) | |
5 | g.161410992G>A | CA362172141 | GABRB2 | c.524C>T (p.Thr175Ile) n.606C>T c.272C>T (p.Thr91Ile) c.44C>T (p.Thr15Ile) c.335C>T (p.Thr112Ile) | |
5 | g.161410992G>C | CA362172140 | GABRB2 | c.524C>G (p.Thr175Ser) n.606C>G c.272C>G (p.Thr91Ser) c.44C>G (p.Thr15Ser) c.335C>G (p.Thr112Ser) | |
5 | g.161410992G>T | CA362172139 | GABRB2 | c.524C>A (p.Thr175Asn) n.606C>A c.272C>A (p.Thr91Asn) c.44C>A (p.Thr15Asn) c.335C>A (p.Thr112Asn) | |
5 | g.161410993T>A | CA362172142 | GABRB2 | c.523A>T (p.Thr175Ser) n.605A>T c.271A>T (p.Thr91Ser) c.43A>T (p.Thr15Ser) c.334A>T (p.Thr112Ser) | |
5 | g.161410993T>C | CA362172143 | GABRB2 | c.523A>G (p.Thr175Ala) n.605A>G c.271A>G (p.Thr91Ala) c.43A>G (p.Thr15Ala) c.334A>G (p.Thr112Ala) | |
5 | g.161410993T>G | CA362172144 | GABRB2 | c.523A>C (p.Thr175Pro) n.605A>C c.271A>C (p.Thr91Pro) c.43A>C (p.Thr15Pro) c.334A>C (p.Thr112Pro) | COSMIC COSMIC |
5 | g.161410994G>A | CA447605076 | GABRB2 | c.522C>T (p.Cys174=) n.604C>T c.270C>T (p.Cys90=) c.42C>T (p.Cys14=) c.333C>T (p.Cys111=) | ClinVar gnomAD v4 |
5 | g.161410994G>C | CA362172145 | GABRB2 | c.522C>G (p.Cys174Trp) n.604C>G c.270C>G (p.Cys90Trp) c.42C>G (p.Cys14Trp) c.333C>G (p.Cys111Trp) | |
5 | g.161410994G>T | CA362172146 | GABRB2 | c.522C>A (p.Cys174Ter) n.604C>A c.270C>A (p.Cys90Ter) c.42C>A (p.Cys14Ter) c.333C>A (p.Cys111Ter) | |
5 | g.161410995C>A | CA362172147 | GABRB2 | c.521G>T (p.Cys174Phe) n.603G>T c.269G>T (p.Cys90Phe) c.41G>T (p.Cys14Phe) c.332G>T (p.Cys111Phe) | gnomAD v4 |
5 | g.161410995C>G | CA362172148 | GABRB2 | c.521G>C (p.Cys174Ser) n.603G>C c.269G>C (p.Cys90Ser) c.41G>C (p.Cys14Ser) c.332G>C (p.Cys111Ser) | |
5 | g.161410995C>T | CA362172149 | GABRB2 | c.521G>A (p.Cys174Tyr) n.603G>A c.269G>A (p.Cys90Tyr) c.41G>A (p.Cys14Tyr) c.332G>A (p.Cys111Tyr) | |
5 | g.161410996A>C | CA362172150 | GABRB2 | c.520T>G (p.Cys174Gly) n.602T>G c.268T>G (p.Cys90Gly) c.40T>G (p.Cys14Gly) c.331T>G (p.Cys111Gly) | |
5 | g.161410996A>G | CA362172151 | GABRB2 | c.520T>C (p.Cys174Arg) n.602T>C c.268T>C (p.Cys90Arg) c.40T>C (p.Cys14Arg) c.331T>C (p.Cys111Arg) | |
5 | g.161410996A>T | CA362172152 | GABRB2 | c.520T>A (p.Cys174Ser) n.602T>A c.268T>A (p.Cys90Ser) c.40T>A (p.Cys14Ser) c.331T>A (p.Cys111Ser) | |
5 | g.161410997G>A | CA447605077 | GABRB2 | c.519C>T (p.Asn173=) n.601C>T c.267C>T (p.Asn89=) c.39C>T (p.Asn13=) c.330C>T (p.Asn110=) | |
5 | g.161410997G>C | CA362172153 | GABRB2 | c.519C>G (p.Asn173Lys) n.601C>G c.267C>G (p.Asn89Lys) c.39C>G (p.Asn13Lys) c.330C>G (p.Asn110Lys) | |
5 | g.161410997G>T | CA362172154 | GABRB2 | c.519C>A (p.Asn173Lys) n.601C>A c.267C>A (p.Asn89Lys) c.39C>A (p.Asn13Lys) c.330C>A (p.Asn110Lys) | |
5 | g.161410998T>A | CA362172157 | GABRB2 | c.518A>T (p.Asn173Ile) n.600A>T c.266A>T (p.Asn89Ile) c.38A>T (p.Asn13Ile) c.329A>T (p.Asn110Ile) | |
5 | g.161410998T>C | CA362172156 | GABRB2 | c.518A>G (p.Asn173Ser) n.600A>G c.266A>G (p.Asn89Ser) c.38A>G (p.Asn13Ser) c.329A>G (p.Asn110Ser) | |
5 | g.161410998T>G | CA362172155 | GABRB2 | c.518A>C (p.Asn173Thr) n.600A>C c.266A>C (p.Asn89Thr) c.38A>C (p.Asn13Thr) c.329A>C (p.Asn110Thr) | |
5 | g.161410999T>A | CA362172158 | GABRB2 | c.517A>T (p.Asn173Tyr) n.599A>T c.265A>T (p.Asn89Tyr) c.37A>T (p.Asn13Tyr) c.328A>T (p.Asn110Tyr) | |
5 | g.161410999T>C | CA362172159 | GABRB2 | c.517A>G (p.Asn173Asp) n.599A>G c.265A>G (p.Asn89Asp) c.37A>G (p.Asn13Asp) c.328A>G (p.Asn110Asp) | |
5 | g.161410999T>G | CA362172160 | GABRB2 | c.517A>C (p.Asn173His) n.599A>C c.265A>C (p.Asn89His) c.37A>C (p.Asn13His) c.328A>C (p.Asn110His) | |
5 | g.161411000T>A | CA362172161 | GABRB2 | c.516A>T (p.Gln172His) n.598A>T c.264A>T (p.Gln88His) c.36A>T (p.Gln12His) c.327A>T (p.Gln109His) | |
5 | g.161411000T>C | CA447605078 | GABRB2 | c.516A>G (p.Gln172=) n.598A>G c.264A>G (p.Gln88=) c.36A>G (p.Gln12=) c.327A>G (p.Gln109=) | |
5 | g.161411000T>G | CA362172162 | GABRB2 | c.516A>C (p.Gln172His) n.598A>C c.264A>C (p.Gln88His) c.36A>C (p.Gln12His) c.327A>C (p.Gln109His) | |
5 | g.161411001T>A | CA362172163 | GABRB2 | c.515A>T (p.Gln172Leu) n.597A>T c.263A>T (p.Gln88Leu) c.35A>T (p.Gln12Leu) c.326A>T (p.Gln109Leu) | |
5 | g.161411001T>C | CA362172164 | GABRB2 | c.515A>G (p.Gln172Arg) n.597A>G c.263A>G (p.Gln88Arg) c.35A>G (p.Gln12Arg) c.326A>G (p.Gln109Arg) | |
5 | g.161411001T>G | CA362172165 | GABRB2 | c.515A>C (p.Gln172Pro) n.597A>C c.263A>C (p.Gln88Pro) c.35A>C (p.Gln12Pro) c.326A>C (p.Gln109Pro) | |
5 | g.161411002G>A | CA362172166 | GABRB2 | c.514C>T (p.Gln172Ter) n.596C>T c.262C>T (p.Gln88Ter) c.34C>T (p.Gln12Ter) c.325C>T (p.Gln109Ter) | |
5 | g.161411002G>C | CA362172167 | GABRB2 | c.514C>G (p.Gln172Glu) n.596C>G c.262C>G (p.Gln88Glu) c.34C>G (p.Gln12Glu) c.325C>G (p.Gln109Glu) | |
5 | g.161411002G>T | CA362172168 | GABRB2 | c.514C>A (p.Gln172Lys) n.596C>A c.262C>A (p.Gln88Lys) c.34C>A (p.Gln12Lys) c.325C>A (p.Gln109Lys) | |
5 | g.161411003T>A | CA362172169 | GABRB2 | c.513A>T (p.Glu171Asp) n.595A>T c.261A>T (p.Glu87Asp) c.33A>T (p.Glu11Asp) c.324A>T (p.Glu108Asp) | |
5 | g.161411003T>C | CA3543578 | GABRB2 | c.513A>G (p.Glu171=) n.595A>G c.261A>G (p.Glu87=) c.33A>G (p.Glu11=) c.324A>G (p.Glu108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.161411003T>G | CA362172170 | GABRB2 | c.513A>C (p.Glu171Asp) n.595A>C c.261A>C (p.Glu87Asp) c.33A>C (p.Glu11Asp) c.324A>C (p.Glu108Asp) | |
5 | g.161411003T= | CA1596016635 | GABRB2 | c.513A= (p.Glu171=) n.595A= c.261A= (p.Glu87=) c.33A= (p.Glu11=) c.324A= (p.Glu108=) | |
5 | g.161411004T>A | CA362172172 | GABRB2 | c.512A>T (p.Glu171Val) n.594A>T c.260A>T (p.Glu87Val) c.32A>T (p.Glu11Val) c.323A>T (p.Glu108Val) | |
5 | g.161411004T>C | CA362172173 | GABRB2 | c.512A>G (p.Glu171Gly) n.594A>G c.260A>G (p.Glu87Gly) c.32A>G (p.Glu11Gly) c.323A>G (p.Glu108Gly) | |
5 | g.161411004T>G | CA362172171 | GABRB2 | c.512A>C (p.Glu171Ala) n.594A>C c.260A>C (p.Glu87Ala) c.32A>C (p.Glu11Ala) c.323A>C (p.Glu108Ala) | |
5 | g.161411005C>A | CA362172174 | GABRB2 | c.511G>T (p.Glu171Ter) n.593G>T c.259G>T (p.Glu87Ter) c.31G>T (p.Glu11Ter) c.322G>T (p.Glu108Ter) | |
5 | g.161411005C>G | CA362172175 | GABRB2 | c.511G>C (p.Glu171Gln) n.593G>C c.259G>C (p.Glu87Gln) c.31G>C (p.Glu11Gln) c.322G>C (p.Glu108Gln) | |
5 | g.161411005C>T | CA362172176 | GABRB2 | c.511G>A (p.Glu171Lys) n.593G>A c.259G>A (p.Glu87Lys) c.31G>A (p.Glu11Lys) c.322G>A (p.Glu108Lys) | |
5 | g.161411006A>C | CA362172177 | GABRB2 | c.510T>G (p.Asp170Glu) n.592T>G c.258T>G (p.Asp86Glu) c.30T>G (p.Asp10Glu) c.321T>G (p.Asp107Glu) | |
5 | g.161411006A>G | CA447605079 | GABRB2 | c.510T>C (p.Asp170=) n.592T>C c.258T>C (p.Asp86=) c.30T>C (p.Asp10=) c.321T>C (p.Asp107=) | |
5 | g.161411006A>T | CA362172178 | GABRB2 | c.510T>A (p.Asp170Glu) n.592T>A c.258T>A (p.Asp86Glu) c.30T>A (p.Asp10Glu) c.321T>A (p.Asp107Glu) | |
5 | g.161411007T>A | CA362172179 | GABRB2 | c.509A>T (p.Asp170Val) n.591A>T c.257A>T (p.Asp86Val) c.29A>T (p.Asp10Val) c.320A>T (p.Asp107Val) | |
5 | g.161411007T>C | CA362172180 | GABRB2 | c.509A>G (p.Asp170Gly) n.591A>G c.257A>G (p.Asp86Gly) c.29A>G (p.Asp10Gly) c.320A>G (p.Asp107Gly) | |
5 | g.161411007T>G | CA362172181 | GABRB2 | c.509A>C (p.Asp170Ala) n.591A>C c.257A>C (p.Asp86Ala) c.29A>C (p.Asp10Ala) c.320A>C (p.Asp107Ala) | |
5 | g.161411008C>A | CA362172183 | GABRB2 | c.508G>T (p.Asp170Tyr) n.590G>T c.256G>T (p.Asp86Tyr) c.28G>T (p.Asp10Tyr) c.319G>T (p.Asp107Tyr) | |
5 | g.161411008C>G | CA362172184 | GABRB2 | c.508G>C (p.Asp170His) n.590G>C c.256G>C (p.Asp86His) c.28G>C (p.Asp10His) c.319G>C (p.Asp107His) | |
5 | g.161411008C>T | CA362172185 | GABRB2 | c.508G>A (p.Asp170Asn) n.590G>A c.256G>A (p.Asp86Asn) c.28G>A (p.Asp10Asn) c.319G>A (p.Asp107Asn) | |
5 | g.161411009C>A | CA447605081 | GABRB2 | c.507G>T (p.Leu169=) n.589G>T c.255G>T (p.Leu85=) c.27G>T (p.Leu9=) c.318G>T (p.Leu106=) | |
5 | g.161411009C= | CA1596016636 | GABRB2 | c.507G= (p.Leu169=) n.589G= c.255G= (p.Leu85=) c.27G= (p.Leu9=) c.318G= (p.Leu106=) | |
5 | g.161411009C>G | CA447605082 | GABRB2 | c.507G>C (p.Leu169=) n.589G>C c.255G>C (p.Leu85=) c.27G>C (p.Leu9=) c.318G>C (p.Leu106=) | |
5 | g.161411009C>T | CA447605080 | GABRB2 | c.507G>A (p.Leu169=) n.589G>A c.255G>A (p.Leu85=) c.27G>A (p.Leu9=) c.318G>A (p.Leu106=) | dbSNP |
5 | g.161411010A>C | CA362172186 | GABRB2 | c.506T>G (p.Leu169Arg) n.588T>G c.254T>G (p.Leu85Arg) c.26T>G (p.Leu9Arg) c.317T>G (p.Leu106Arg) | |
5 | g.161411010A>G | CA362172187 | GABRB2 | c.506T>C (p.Leu169Pro) n.588T>C c.254T>C (p.Leu85Pro) c.26T>C (p.Leu9Pro) c.317T>C (p.Leu106Pro) | |
5 | g.161411010A>T | CA362172188 | GABRB2 | c.506T>A (p.Leu169Gln) n.588T>A c.254T>A (p.Leu85Gln) c.26T>A (p.Leu9Gln) c.317T>A (p.Leu106Gln) | |
5 | g.161411011G>A | CA447605083 | GABRB2 | c.505C>T (p.Leu169=) n.587C>T c.253C>T (p.Leu85=) c.25C>T (p.Leu9=) c.316C>T (p.Leu106=) | |
5 | g.161411011G>C | CA362172189 | GABRB2 | c.505C>G (p.Leu169Val) n.587C>G c.253C>G (p.Leu85Val) c.25C>G (p.Leu9Val) c.316C>G (p.Leu106Val) | |
5 | g.161411011G>T | CA362172190 | GABRB2 | c.505C>A (p.Leu169Met) n.587C>A c.253C>A (p.Leu85Met) c.25C>A (p.Leu9Met) c.316C>A (p.Leu106Met) | |
5 | g.161411012T>A | CA447605084 | GABRB2 | c.504A>T (p.Pro168=) n.586A>T c.252A>T (p.Pro84=) c.24A>T (p.Pro8=) c.315A>T (p.Pro105=) | |
5 | g.161411012T>C | CA447605086 | GABRB2 | c.504A>G (p.Pro168=) n.586A>G c.252A>G (p.Pro84=) c.24A>G (p.Pro8=) c.315A>G (p.Pro105=) | |
5 | g.161411012T>G | CA447605085 | GABRB2 | c.504A>C (p.Pro168=) n.586A>C c.252A>C (p.Pro84=) c.24A>C (p.Pro8=) c.315A>C (p.Pro105=) | |
5 | g.161411013G>A | CA362172191 | GABRB2 | c.503C>T (p.Pro168Leu) n.585C>T c.251C>T (p.Pro84Leu) c.23C>T (p.Pro8Leu) c.314C>T (p.Pro105Leu) | |
5 | g.161411013G>C | CA362172192 | GABRB2 | c.503C>G (p.Pro168Arg) n.585C>G c.251C>G (p.Pro84Arg) c.23C>G (p.Pro8Arg) c.314C>G (p.Pro105Arg) | |
5 | g.161411013G>T | CA362172193 | GABRB2 | c.503C>A (p.Pro168Gln) n.585C>A c.251C>A (p.Pro84Gln) c.23C>A (p.Pro8Gln) c.314C>A (p.Pro105Gln) | |
5 | g.161411015dup | CA2567463274 | GABRB2 | c.503dup (p.Leu169ThrfsTer3) n.585dup c.251dup (p.Leu85ThrfsTer3) c.23dup (p.Leu9ThrfsTer3) c.314dup (p.Leu106ThrfsTer3) | |
5 | g.161411015del | CA2739272772 | GABRB2 | c.503del (p.Pro168HisfsTer?) n.585del c.251del (p.Pro84HisfsTer17) c.251del (p.Pro84HisfsTer?) c.23del (p.Pro8HisfsTer?) c.314del (p.Pro105HisfsTer?) | ClinVar |
5 | g.161411014G>A | CA362172194 | GABRB2 | c.502C>T (p.Pro168Ser) n.584C>T c.250C>T (p.Pro84Ser) c.22C>T (p.Pro8Ser) c.313C>T (p.Pro105Ser) | |
5 | g.161411014G>C | CA362172195 | GABRB2 | c.502C>G (p.Pro168Ala) n.584C>G c.250C>G (p.Pro84Ala) c.22C>G (p.Pro8Ala) c.313C>G (p.Pro105Ala) | |
5 | g.161411014G>T | CA362172196 | GABRB2 | c.502C>A (p.Pro168Thr) n.584C>A c.250C>A (p.Pro84Thr) c.22C>A (p.Pro8Thr) c.313C>A (p.Pro105Thr) | |
5 | g.161411015G>A | CA447605087 | GABRB2 | c.501C>T (p.Tyr167=) n.583C>T c.249C>T (p.Tyr83=) c.21C>T (p.Tyr7=) c.312C>T (p.Tyr104=) | |
5 | g.161411015G>C | CA362172197 | GABRB2 | c.501C>G (p.Tyr167Ter) n.583C>G c.249C>G (p.Tyr83Ter) c.21C>G (p.Tyr7Ter) c.312C>G (p.Tyr104Ter) | |
5 | g.161411015G>T | CA362172198 | GABRB2 | c.501C>A (p.Tyr167Ter) n.583C>A c.249C>A (p.Tyr83Ter) c.21C>A (p.Tyr7Ter) c.312C>A (p.Tyr104Ter) | |
5 | g.161411016T>A | CA362172199 | GABRB2 | c.500A>T (p.Tyr167Phe) n.582A>T c.248A>T (p.Tyr83Phe) c.20A>T (p.Tyr7Phe) c.311A>T (p.Tyr104Phe) | |
5 | g.161411016T>C | CA362172200 | GABRB2 | c.500A>G (p.Tyr167Cys) n.582A>G c.248A>G (p.Tyr83Cys) c.20A>G (p.Tyr7Cys) c.311A>G (p.Tyr104Cys) | |
5 | g.161411016T>G | CA362172201 | GABRB2 | c.500A>C (p.Tyr167Ser) n.582A>C c.248A>C (p.Tyr83Ser) c.20A>C (p.Tyr7Ser) c.311A>C (p.Tyr104Ser) | |
5 | g.161411017A>C | CA362172202 | GABRB2 | c.499T>G (p.Tyr167Asp) n.581T>G c.247T>G (p.Tyr83Asp) c.19T>G (p.Tyr7Asp) c.310T>G (p.Tyr104Asp) | |
5 | g.161411017A>G | CA362172204 | GABRB2 | c.499T>C (p.Tyr167His) n.581T>C c.247T>C (p.Tyr83His) c.19T>C (p.Tyr7His) c.310T>C (p.Tyr104His) | |
5 | g.161411017A>T | CA362172203 | GABRB2 | c.499T>A (p.Tyr167Asn) n.581T>A c.247T>A (p.Tyr83Asn) c.19T>A (p.Tyr7Asn) c.310T>A (p.Tyr104Asn) | COSMIC |
5 | g.161411018C>A | CA362172205 | GABRB2 | c.498G>T (p.Arg166Ser) n.580G>T c.246G>T (p.Arg82Ser) c.18G>T (p.Arg6Ser) c.309G>T (p.Arg103Ser) | |
5 | g.161411018C>G | CA362172206 | GABRB2 | c.498G>C (p.Arg166Ser) n.580G>C c.246G>C (p.Arg82Ser) c.18G>C (p.Arg6Ser) c.309G>C (p.Arg103Ser) | |
5 | g.161411018C>T | CA447605088 | GABRB2 | c.498G>A (p.Arg166=) n.580G>A c.246G>A (p.Arg82=) c.18G>A (p.Arg6=) c.309G>A (p.Arg103=) | gnomAD v4 |
5 | g.161411019C>A | CA362172207 | GABRB2 | c.497G>T (p.Arg166Met) n.579G>T c.245G>T (p.Arg82Met) c.17G>T (p.Arg6Met) c.308G>T (p.Arg103Met) | |
5 | g.161411019C>G | CA362172209 | GABRB2 | c.497G>C (p.Arg166Thr) n.579G>C c.245G>C (p.Arg82Thr) c.17G>C (p.Arg6Thr) c.308G>C (p.Arg103Thr) | |
5 | g.161411019C>T | CA362172208 | GABRB2 | c.497G>A (p.Arg166Lys) n.579G>A c.245G>A (p.Arg82Lys) c.17G>A (p.Arg6Lys) c.308G>A (p.Arg103Lys) | |
5 | g.161411020T>A | CA362172210 | GABRB2 | c.496A>T (p.Arg166Trp) n.578A>T c.244A>T (p.Arg82Trp) c.16A>T (p.Arg6Trp) c.307A>T (p.Arg103Trp) | COSMIC COSMIC |
5 | g.161411020T>C | CA362172211 | GABRB2 | c.496A>G (p.Arg166Gly) n.578A>G c.244A>G (p.Arg82Gly) c.16A>G (p.Arg6Gly) c.307A>G (p.Arg103Gly) | |
5 | g.161411020T>G | CA447605089 | GABRB2 | c.496A>C (p.Arg166=) n.578A>C c.244A>C (p.Arg82=) c.16A>C (p.Arg6=) c.307A>C (p.Arg103=) | |
5 | g.161411021C>A | CA362172212 | GABRB2 | c.495G>T (p.Arg165Ser) n.577G>T c.243G>T (p.Arg81Ser) c.15G>T (p.Arg5Ser) c.306G>T (p.Arg102Ser) | |
5 | g.161411021C= | CA1596016637 | GABRB2 | c.495G= (p.Arg165=) n.577G= c.243G= (p.Arg81=) c.15G= (p.Arg5=) c.306G= (p.Arg102=) | |
5 | g.161411021C>G | CA362172213 | GABRB2 | c.495G>C (p.Arg165Ser) n.577G>C c.243G>C (p.Arg81Ser) c.15G>C (p.Arg5Ser) c.306G>C (p.Arg102Ser) | |
5 | g.161411021C>T | CA447605090 | GABRB2 | c.495G>A (p.Arg165=) n.577G>A c.243G>A (p.Arg81=) c.15G>A (p.Arg5=) c.306G>A (p.Arg102=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.161411022C>A | CA362172214 | GABRB2 | c.494G>T (p.Arg165Met) n.576G>T c.242G>T (p.Arg81Met) c.14G>T (p.Arg5Met) c.305G>T (p.Arg102Met) | |
5 | g.161411022C>G | CA362172215 | GABRB2 | c.494G>C (p.Arg165Thr) n.576G>C c.242G>C (p.Arg81Thr) c.14G>C (p.Arg5Thr) c.305G>C (p.Arg102Thr) | |
5 | g.161411022C>T | CA362172216 | GABRB2 | c.494G>A (p.Arg165Lys) n.576G>A c.242G>A (p.Arg81Lys) c.14G>A (p.Arg5Lys) c.305G>A (p.Arg102Lys) | COSMIC COSMIC |
5 | g.161411023T>A | CA362172217 | GABRB2 | c.493A>T (p.Arg165Trp) n.575A>T c.241A>T (p.Arg81Trp) c.13A>T (p.Arg5Trp) c.304A>T (p.Arg102Trp) | COSMIC COSMIC |
5 | g.161411023T>C | CA362172218 | GABRB2 | c.493A>G (p.Arg165Gly) n.575A>G c.241A>G (p.Arg81Gly) c.13A>G (p.Arg5Gly) c.304A>G (p.Arg102Gly) | |
5 | g.161411023T>G | CA447605091 | GABRB2 | c.493A>C (p.Arg165=) n.575A>C c.241A>C (p.Arg81=) c.13A>C (p.Arg5=) c.304A>C (p.Arg102=) | |
5 | g.161411024T>A | CA447605092 | GABRB2 | c.492A>T (p.Leu164=) n.574A>T c.240A>T (p.Leu80=) c.12A>T (p.Leu4=) c.303A>T (p.Leu101=) | |
5 | g.161411024T>C | CA447605093 | GABRB2 | c.492A>G (p.Leu164=) n.574A>G c.240A>G (p.Leu80=) c.12A>G (p.Leu4=) c.303A>G (p.Leu101=) | |
5 | g.161411024T>G | CA447605094 | GABRB2 | c.492A>C (p.Leu164=) n.574A>C c.240A>C (p.Leu80=) c.12A>C (p.Leu4=) c.303A>C (p.Leu101=) | |
5 | g.161411025A>C | CA362172219 | GABRB2 | c.491T>G (p.Leu164Arg) n.573T>G c.239T>G (p.Leu80Arg) c.11T>G (p.Leu4Arg) c.302T>G (p.Leu101Arg) | |
5 | g.161411025A>G | CA362172220 | GABRB2 | c.491T>C (p.Leu164Pro) n.573T>C c.239T>C (p.Leu80Pro) c.11T>C (p.Leu4Pro) c.302T>C (p.Leu101Pro) | |
5 | g.161411025A>T | CA362172221 | GABRB2 | c.491T>A (p.Leu164Gln) n.573T>A c.239T>A (p.Leu80Gln) c.11T>A (p.Leu4Gln) c.302T>A (p.Leu101Gln) | |
5 | g.161411026G>A | CA3543579 | GABRB2 | c.490C>T (p.Leu164=) n.572C>T c.238C>T (p.Leu80=) c.10C>T (p.Leu4=) c.301C>T (p.Leu101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.161411026G>C | CA362172222 | GABRB2 | c.490C>G (p.Leu164Val) n.572C>G c.238C>G (p.Leu80Val) c.10C>G (p.Leu4Val) c.301C>G (p.Leu101Val) | |
5 | g.161411026G= | CA1596016638 | GABRB2 | c.490C= (p.Leu164=) n.572C= c.238C= (p.Leu80=) c.10C= (p.Leu4=) c.301C= (p.Leu101=) | |
5 | g.161411026G>T | CA362172223 | GABRB2 | c.490C>A (p.Leu164Ile) n.572C>A c.238C>A (p.Leu80Ile) c.10C>A (p.Leu4Ile) c.301C>A (p.Leu101Ile) | |
5 | g.161411027G>A | CA447605095 | GABRB2 | c.489C>T (p.Asp163=) n.571C>T c.237C>T (p.Asp79=) c.9C>T (p.Asp3=) c.300C>T (p.Asp100=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.161411027G>C | CA362172224 | GABRB2 | c.489C>G (p.Asp163Glu) n.571C>G c.237C>G (p.Asp79Glu) c.9C>G (p.Asp3Glu) c.300C>G (p.Asp100Glu) | |
5 | g.161411027G= | CA1596016639 | GABRB2 | c.489C= (p.Asp163=) n.571C= c.237C= (p.Asp79=) c.9C= (p.Asp3=) c.300C= (p.Asp100=) | |
5 | g.161411027G>T | CA362172225 | GABRB2 | c.489C>A (p.Asp163Glu) n.571C>A c.237C>A (p.Asp79Glu) c.9C>A (p.Asp3Glu) c.300C>A (p.Asp100Glu) | |
5 | g.161411028T>A | CA362172226 | GABRB2 | c.488A>T (p.Asp163Val) n.570A>T c.236A>T (p.Asp79Val) c.8A>T (p.Asp3Val) c.299A>T (p.Asp100Val) | |
5 | g.161411028T>C | CA362172227 | GABRB2 | c.488A>G (p.Asp163Gly) n.570A>G c.236A>G (p.Asp79Gly) c.8A>G (p.Asp3Gly) c.299A>G (p.Asp100Gly) | gnomAD v4 |
5 | g.161411028T>G | CA362172228 | GABRB2 | c.488A>C (p.Asp163Ala) n.570A>C c.236A>C (p.Asp79Ala) c.8A>C (p.Asp3Ala) c.299A>C (p.Asp100Ala) | |
5 | g.161411029C>A | CA362172229 | GABRB2 | c.487G>T (p.Asp163Tyr) n.569G>T c.235G>T (p.Asp79Tyr) c.7G>T (p.Asp3Tyr) c.298G>T (p.Asp100Tyr) | |
5 | g.161411029C>G | CA362172230 | GABRB2 | c.487G>C (p.Asp163His) n.569G>C c.235G>C (p.Asp79His) c.7G>C (p.Asp3His) c.298G>C (p.Asp100His) | COSMIC COSMIC |
5 | g.161411029C>T | CA362172231 | GABRB2 | c.487G>A (p.Asp163Asn) n.569G>A c.235G>A (p.Asp79Asn) c.7G>A (p.Asp3Asn) c.298G>A (p.Asp100Asn) | |
5 | g.161411030C>A | CA362172232 | GABRB2 | c.486G>T (p.Met162Ile) n.568G>T c.234G>T (p.Met78Ile) c.6G>T (p.Met2Ile) c.297G>T (p.Met99Ile) | |
5 | g.161411030C>G | CA362172233 | GABRB2 | c.486G>C (p.Met162Ile) n.568G>C c.234G>C (p.Met78Ile) c.6G>C (p.Met2Ile) c.297G>C (p.Met99Ile) | |
5 | g.161411030C>T | CA362172234 | GABRB2 | c.486G>A (p.Met162Ile) n.568G>A c.234G>A (p.Met78Ile) c.6G>A (p.Met2Ile) c.297G>A (p.Met99Ile) | |
5 | g.161411031A= | CA1596016640 | GABRB2 | c.485T= (p.Met162=) n.567T= c.233T= (p.Met78=) c.5T= (p.Met2=) c.296T= (p.Met99=) | |
5 | g.161411031A>C | CA362172237 | GABRB2 | c.485T>G (p.Met162Arg) n.567T>G c.233T>G (p.Met78Arg) c.5T>G (p.Met2Arg) c.296T>G (p.Met99Arg) | ClinVar dbSNP |
5 | g.161411031A>G | CA362172236 | GABRB2 | c.485T>C (p.Met162Thr) n.567T>C c.233T>C (p.Met78Thr) c.5T>C (p.Met2Thr) c.296T>C (p.Met99Thr) | |
5 | g.161411031A>T | CA362172235 | GABRB2 | c.485T>A (p.Met162Lys) n.567T>A c.233T>A (p.Met78Lys) c.5T>A (p.Met2Lys) c.296T>A (p.Met99Lys) | |
5 | g.161411032T>A | CA362172240 | GABRB2 | c.484A>T (p.Met162Leu) n.566A>T c.232A>T (p.Met78Leu) c.4A>T (p.Met2Leu) c.295A>T (p.Met99Leu) | |
5 | g.161411032T>C | CA362172238 | GABRB2 | c.484A>G (p.Met162Val) n.566A>G c.232A>G (p.Met78Val) c.4A>G (p.Met2Val) c.295A>G (p.Met99Val) | |
5 | g.161411032T>G | CA362172239 | GABRB2 | c.484A>C (p.Met162Leu) n.566A>C c.232A>C (p.Met78Leu) c.4A>C (p.Met2Leu) c.295A>C (p.Met99Leu) | |
5 | g.161411033C>A | CA362172241 | GABRB2 | c.483G>T (p.Met161Ile) n.565G>T c.231G>T (p.Met77Ile) c.3G>T (p.Met1Ile) c.294G>T (p.Met98Ile) | |
5 | g.161411033C= | CA1596016641 | GABRB2 | c.483G= (p.Met161=) n.565G= c.231G= (p.Met77=) c.3G= (p.Met1=) c.294G= (p.Met98=) | |
5 | g.161411033C>G | CA362172242 | GABRB2 | c.483G>C (p.Met161Ile) n.565G>C c.231G>C (p.Met77Ile) c.3G>C (p.Met1Ile) c.294G>C (p.Met98Ile) | |
5 | g.161411033C>T | CA362172243 | GABRB2 | c.483G>A (p.Met161Ile) n.565G>A c.231G>A (p.Met77Ile) c.3G>A (p.Met1Ile) c.294G>A (p.Met98Ile) | dbSNP |
5 | g.161411034A= | CA1596016642 | GABRB2 | c.482T= (p.Met161=) n.564T= c.230T= (p.Met77=) c.2T= (p.Met1=) c.293T= (p.Met98=) | |
5 | g.161411034A>C | CA362172244 | GABRB2 | c.482T>G (p.Met161Arg) n.564T>G c.230T>G (p.Met77Arg) c.2T>G (p.Met1Arg) c.293T>G (p.Met98Arg) | |
5 | g.161411034A>G | CA16604729 | GABRB2 | c.482T>C (p.Met161Thr) n.564T>C c.230T>C (p.Met77Thr) c.2T>C (p.Met1Thr) c.293T>C (p.Met98Thr) | ClinVar dbSNP |
5 | g.161411034A>T | CA362172245 | GABRB2 | c.482T>A (p.Met161Lys) n.564T>A c.230T>A (p.Met77Lys) c.2T>A (p.Met1Lys) c.293T>A (p.Met98Lys) | |
5 | g.161411035T>A | CA362172246 | GABRB2 | c.481A>T (p.Met161Leu) n.563A>T c.229A>T (p.Met77Leu) c.1A>T (p.Met1Leu) c.292A>T (p.Met98Leu) | |
5 | g.161411035T>C | CA362172247 | GABRB2 | c.481A>G (p.Met161Val) n.563A>G c.229A>G (p.Met77Val) c.1A>G (p.Met1Val) c.292A>G (p.Met98Val) | |
5 | g.161411035T>G | CA362172248 | GABRB2 | c.481A>C (p.Met161Leu) n.563A>C c.229A>C (p.Met77Leu) c.1A>C (p.Met1Leu) c.292A>C (p.Met98Leu) | |
5 | g.161411036G>A | CA447605096 | GABRB2 | c.480C>T (p.Cys160=) n.562C>T c.228C>T (p.Cys76=) c.-1C>T (n.-1C>T) c.291C>T (p.Cys97=) | dbSNP |
5 | g.161411036G>C | CA362172249 | GABRB2 | c.480C>G (p.Cys160Trp) n.562C>G c.228C>G (p.Cys76Trp) c.-1C>G (n.-1C>G) c.291C>G (p.Cys97Trp) | |
5 | g.161411036G= | CA1596016643 | GABRB2 | c.480C= (p.Cys160=) n.562C= c.228C= (p.Cys76=) c.-1C= (n.-1C=) c.291C= (p.Cys97=) | |
5 | g.161411036G>T | CA362172250 | GABRB2 | c.480C>A (p.Cys160Ter) n.562C>A c.228C>A (p.Cys76Ter) c.-1C>A (n.-1C>A) c.291C>A (p.Cys97Ter) | COSMIC COSMIC |
5 | g.161411037C>A | CA362172254 | GABRB2 | c.479G>T (p.Cys160Phe) n.561G>T c.227G>T (p.Cys76Phe) c.-2G>T (n.-2G>T) c.290G>T (p.Cys97Phe) | |
5 | g.161411037C>G | CA362172251 | GABRB2 | c.479G>C (p.Cys160Ser) n.561G>C c.227G>C (p.Cys76Ser) c.-2G>C (n.-2G>C) c.290G>C (p.Cys97Ser) | |
5 | g.161411037C>T | CA362172252 | GABRB2 | c.479G>A (p.Cys160Tyr) n.561G>A c.227G>A (p.Cys76Tyr) c.-2G>A (n.-2G>A) c.290G>A (p.Cys97Tyr) | |
5 | g.161411038A>C | CA362172255 | GABRB2 | c.478T>G (p.Cys160Gly) n.560T>G c.226T>G (p.Cys76Gly) c.-3T>G (n.-3T>G) c.289T>G (p.Cys97Gly) | |
5 | g.161411038A>G | CA362172256 | GABRB2 | c.478T>C (p.Cys160Arg) n.560T>C c.226T>C (p.Cys76Arg) c.-3T>C (n.-3T>C) c.289T>C (p.Cys97Arg) | |
5 | g.161411038A>T | CA362172257 | GABRB2 | c.478T>A (p.Cys160Ser) n.560T>A c.226T>A (p.Cys76Ser) c.-3T>A (n.-3T>A) c.289T>A (p.Cys97Ser) | |
5 | g.161411039G>A | CA447605097 | GABRB2 | c.477C>T (p.Ala159=) n.559C>T c.225C>T (p.Ala75=) c.-4C>T (n.-4C>T) c.288C>T (p.Ala96=) | dbSNP gnomAD v4 |
5 | g.161411039G>C | CA447605099 | GABRB2 | c.477C>G (p.Ala159=) n.559C>G c.225C>G (p.Ala75=) c.-4C>G (n.-4C>G) c.288C>G (p.Ala96=) | |
5 | g.161411039G>T | CA447605098 | GABRB2 | c.477C>A (p.Ala159=) n.559C>A c.225C>A (p.Ala75=) c.-4C>A (n.-4C>A) c.288C>A (p.Ala96=) | |
5 | g.161411040G>A | CA362172258 | GABRB2 | c.476C>T (p.Ala159Val) n.558C>T c.224C>T (p.Ala75Val) c.-5C>T (n.-5C>T) c.287C>T (p.Ala96Val) | |
5 | g.161411040G>C | CA362172259 | GABRB2 | c.476C>G (p.Ala159Gly) n.558C>G c.224C>G (p.Ala75Gly) c.-5C>G (n.-5C>G) c.287C>G (p.Ala96Gly) | |
5 | g.161411040G>T | CA362172260 | GABRB2 | c.476C>A (p.Ala159Asp) n.558C>A c.224C>A (p.Ala75Asp) c.-5C>A (n.-5C>A) c.287C>A (p.Ala96Asp) | |
5 | g.161411041C>A | CA362172261 | GABRB2 | c.475G>T (p.Ala159Ser) n.557G>T c.223G>T (p.Ala75Ser) c.-6G>T (n.-6G>T) c.286G>T (p.Ala96Ser) | ClinVar dbSNP |
5 | g.161411041C= | CA1596016644 | GABRB2 | c.475G= (p.Ala159=) n.557G= c.223G= (p.Ala75=) c.-6G= (n.-6G=) c.286G= (p.Ala96=) | |
5 | g.161411041C>G | CA362172262 | GABRB2 | c.475G>C (p.Ala159Pro) n.557G>C c.223G>C (p.Ala75Pro) c.-6G>C (n.-6G>C) c.286G>C (p.Ala96Pro) | |
5 | g.161411041C>T | CA362172263 | GABRB2 | c.475G>A (p.Ala159Thr) n.557G>A c.223G>A (p.Ala75Thr) c.-6G>A (n.-6G>A) c.286G>A (p.Ala96Thr) | COSMIC COSMIC |
5 | g.161411042A>C | CA447605100 | GABRB2 | c.474T>G (p.Ala158=) n.556T>G c.222T>G (p.Ala74=) c.-7T>G (n.-7T>G) c.285T>G (p.Ala95=) | |
5 | g.161411042A>G | CA447605101 | GABRB2 | c.474T>C (p.Ala158=) n.556T>C c.222T>C (p.Ala74=) c.-7T>C (n.-7T>C) c.285T>C (p.Ala95=) | |
5 | g.161411042A>T | CA447605102 | GABRB2 | c.474T>A (p.Ala158=) n.556T>A c.222T>A (p.Ala74=) c.-7T>A (n.-7T>A) c.285T>A (p.Ala95=) | |
5 | g.161411043G>A | CA362172264 | GABRB2 | c.473C>T (p.Ala158Val) n.555C>T c.221C>T (p.Ala74Val) c.-8C>T (n.-8C>T) c.284C>T (p.Ala95Val) | |
5 | g.161411043G>C | CA362172265 | GABRB2 | c.473C>G (p.Ala158Gly) n.555C>G c.221C>G (p.Ala74Gly) c.-8C>G (n.-8C>G) c.284C>G (p.Ala95Gly) | |
5 | g.161411043G>T | CA362172266 | GABRB2 | c.473C>A (p.Ala158Asp) n.555C>A c.221C>A (p.Ala74Asp) c.-8C>A (n.-8C>A) c.284C>A (p.Ala95Asp) | |
5 | g.161411044C>A | CA362172268 | GABRB2 | c.472G>T (p.Ala158Ser) n.554G>T c.220G>T (p.Ala74Ser) c.-9G>T (n.-9G>T) c.283G>T (p.Ala95Ser) | |
5 | g.161411044C>G | CA362172269 | GABRB2 | c.472G>C (p.Ala158Pro) n.554G>C c.220G>C (p.Ala74Pro) c.-9G>C (n.-9G>C) c.283G>C (p.Ala95Pro) | |
5 | g.161411044C>T | CA362172267 | GABRB2 | c.472G>A (p.Ala158Thr) n.554G>A c.220G>A (p.Ala74Thr) c.-9G>A (n.-9G>A) c.283G>A (p.Ala95Thr) | |
5 | g.161411045T>A | CA447605103 | GABRB2 | c.471A>T (p.Thr157=) n.553A>T c.219A>T (p.Thr73=) c.-10A>T (n.-10A>T) c.282A>T (p.Thr94=) | |
5 | g.161411045T>C | CA447605104 | GABRB2 | c.471A>G (p.Thr157=) n.553A>G c.219A>G (p.Thr73=) c.-10A>G (n.-10A>G) c.282A>G (p.Thr94=) | |
5 | g.161411045T>G | CA447605105 | GABRB2 | c.471A>C (p.Thr157=) n.553A>C c.219A>C (p.Thr73=) c.-10A>C (n.-10A>C) c.282A>C (p.Thr94=) | |
5 | g.161411046G>A | CA362172270 | GABRB2 | c.470C>T (p.Thr157Ile) n.552C>T c.218C>T (p.Thr73Ile) c.-11C>T (n.-11C>T) c.281C>T (p.Thr94Ile) | |
5 | g.161411046G>C | CA362172271 | GABRB2 | c.470C>G (p.Thr157Arg) n.552C>G c.218C>G (p.Thr73Arg) c.-11C>G (n.-11C>G) c.281C>G (p.Thr94Arg) | |
5 | g.161411046G>T | CA362172272 | GABRB2 | c.470C>A (p.Thr157Lys) n.552C>A c.218C>A (p.Thr73Lys) c.-11C>A (n.-11C>A) c.281C>A (p.Thr94Lys) | |
5 | g.161411047T>A | CA362172273 | GABRB2 | c.469A>T (p.Thr157Ser) n.551A>T c.217A>T (p.Thr73Ser) c.-12A>T (n.-12A>T) c.280A>T (p.Thr94Ser) | |
5 | g.161411047T>C | CA362172274 | GABRB2 | c.469A>G (p.Thr157Ala) n.551A>G c.217A>G (p.Thr73Ala) c.-12A>G (n.-12A>G) c.280A>G (p.Thr94Ala) | |
5 | g.161411047T>G | CA362172275 | GABRB2 | c.469A>C (p.Thr157Pro) n.551A>C c.217A>C (p.Thr73Pro) c.-12A>C (n.-12A>C) c.280A>C (p.Thr94Pro) |