Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.161410934A>TCA2578474111GABRB2c.541+41T>A (n.541+41T>A)
n.623+41T>A
c.289+41T>A (n.289+41T>A)
c.61+41T>A (n.61+41T>A)
c.352+41T>A (n.352+41T>A)
 gnomAD v4
5g.161410935A=CA1596016613GABRB2c.541+40T= (n.541+40T=)
n.623+40T=
c.289+40T= (n.289+40T=)
c.61+40T= (n.61+40T=)
c.352+40T= (n.352+40T=)
5g.161410935A>CCA2676313966GABRB2c.541+40T>G (n.541+40T>G)
n.623+40T>G
c.289+40T>G (n.289+40T>G)
c.61+40T>G (n.61+40T>G)
c.352+40T>G (n.352+40T>G)
 gnomAD v4
5g.161410935A>TCA564136773GABRB2c.541+40T>A (n.541+40T>A)
n.623+40T>A
c.289+40T>A (n.289+40T>A)
c.61+40T>A (n.61+40T>A)
c.352+40T>A (n.352+40T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.161410937G>ACA806572582GABRB2c.541+38C>T (n.541+38C>T)
n.623+38C>T
c.289+38C>T (n.289+38C>T)
c.61+38C>T (n.61+38C>T)
c.352+38C>T (n.352+38C>T)
 dbSNP gnomAD v3 gnomAD v4
5g.161410937G=CA1596016614GABRB2c.541+38C= (n.541+38C=)
n.623+38C=
c.289+38C= (n.289+38C=)
c.61+38C= (n.61+38C=)
c.352+38C= (n.352+38C=)
5g.161410937G>TCA650496352GABRB2c.541+38C>A (n.541+38C>A)
n.623+38C>A
c.289+38C>A (n.289+38C>A)
c.61+38C>A (n.61+38C>A)
c.352+38C>A (n.352+38C>A)
 gnomAD v4 COSMIC
5g.161410938C>GCA2676313967GABRB2c.541+37G>C (n.541+37G>C)
n.623+37G>C
c.289+37G>C (n.289+37G>C)
c.61+37G>C (n.61+37G>C)
c.352+37G>C (n.352+37G>C)
 gnomAD v4
5g.161410940G>CCA3543568GABRB2c.541+35C>G (n.541+35C>G)
n.623+35C>G
c.289+35C>G (n.289+35C>G)
c.61+35C>G (n.61+35C>G)
c.352+35C>G (n.352+35C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.161410940G=CA1596016615GABRB2c.541+35C= (n.541+35C=)
n.623+35C=
c.289+35C= (n.289+35C=)
c.61+35C= (n.61+35C=)
c.352+35C= (n.352+35C=)
5g.161410940G>TCA2676313968GABRB2c.541+35C>A (n.541+35C>A)
n.623+35C>A
c.289+35C>A (n.289+35C>A)
c.61+35C>A (n.61+35C>A)
c.352+35C>A (n.352+35C>A)
 gnomAD v4
5g.161410941A=CA1596016616GABRB2c.541+34T= (n.541+34T=)
n.623+34T=
c.289+34T= (n.289+34T=)
c.61+34T= (n.61+34T=)
c.352+34T= (n.352+34T=)
5g.161410941A>TCA3543569GABRB2c.541+34T>A (n.541+34T>A)
n.623+34T>A
c.289+34T>A (n.289+34T>A)
c.61+34T>A (n.61+34T>A)
c.352+34T>A (n.352+34T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.161410942G>ACA2676313969GABRB2c.541+33C>T (n.541+33C>T)
n.623+33C>T
c.289+33C>T (n.289+33C>T)
c.61+33C>T (n.61+33C>T)
c.352+33C>T (n.352+33C>T)
 gnomAD v4
5g.161410942G>TCA2578474112GABRB2c.541+33C>A (n.541+33C>A)
n.623+33C>A
c.289+33C>A (n.289+33C>A)
c.61+33C>A (n.61+33C>A)
c.352+33C>A (n.352+33C>A)
 gnomAD v4
5g.161410943T>ACA131028741GABRB2c.541+32A>T (n.541+32A>T)
n.623+32A>T
c.289+32A>T (n.289+32A>T)
c.61+32A>T (n.61+32A>T)
c.352+32A>T (n.352+32A>T)
 dbSNP
5g.161410943T>CCA2578474113GABRB2c.541+32A>G (n.541+32A>G)
n.623+32A>G
c.289+32A>G (n.289+32A>G)
c.61+32A>G (n.61+32A>G)
c.352+32A>G (n.352+32A>G)
5g.161410943T=CA1596016617GABRB2c.541+32A= (n.541+32A=)
n.623+32A=
c.289+32A= (n.289+32A=)
c.61+32A= (n.61+32A=)
c.352+32A= (n.352+32A=)
5g.161410944C>ACA2676313970GABRB2c.541+31G>T (n.541+31G>T)
n.623+31G>T
c.289+31G>T (n.289+31G>T)
c.61+31G>T (n.61+31G>T)
c.352+31G>T (n.352+31G>T)
 gnomAD v4
5g.161410944C=CA1596016618GABRB2c.541+31G= (n.541+31G=)
n.623+31G=
c.289+31G= (n.289+31G=)
c.61+31G= (n.61+31G=)
c.352+31G= (n.352+31G=)
5g.161410944C>GCA3543570GABRB2c.541+31G>C (n.541+31G>C)
n.623+31G>C
c.289+31G>C (n.289+31G>C)
c.61+31G>C (n.61+31G>C)
c.352+31G>C (n.352+31G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
5g.161410945delCA2578474114GABRB2c.541+31del (n.541+31del)
n.623+31del
c.289+31del (n.289+31del)
c.61+31del (n.61+31del)
c.352+31del (n.352+31del)
5g.161410945C=CA1596016619GABRB2c.541+30G= (n.541+30G=)
n.623+30G=
c.289+30G= (n.289+30G=)
c.61+30G= (n.61+30G=)
c.352+30G= (n.352+30G=)
5g.161410945C>TCA564136778GABRB2c.541+30G>A (n.541+30G>A)
n.623+30G>A
c.289+30G>A (n.289+30G>A)
c.61+30G>A (n.61+30G>A)
c.352+30G>A (n.352+30G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.161410946_161410947delinsAGCA1596016620GABRB2c.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)
5g.161410947delCA1596016621GABRB2c.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
5g.161410947G>ACA2578474115GABRB2c.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
5g.161410947G>CCA2676313971GABRB2c.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
5g.161410947G>TCA2676313972GABRB2c.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
5g.161410948T>ACA2676313973GABRB2c.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
5g.161410949C=CA1596016622GABRB2c.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=)
5g.161410949C>GCA3543571GABRB2c.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
5g.161410950T>CCA2676313974GABRB2c.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
5g.161410951delCA2676313975GABRB2c.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
5g.161410952G=CA1596016623GABRB2c.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=)
5g.161410952G>TCA3543572GABRB2c.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
5g.161410953C>TCA2676313976GABRB2c.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
5g.161410954T>CCA131028742GABRB2c.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
5g.161410954T=CA1596016624GABRB2c.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=)
5g.161410956delCA2676313977GABRB2c.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
5g.161410956G>TCA2676313978GABRB2c.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
5g.161410958T>CCA2676313979GABRB2c.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
5g.161410963A=CA1596016625GABRB2c.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=)
5g.161410963A>CCA806572598GABRB2c.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
5g.161410964G>ACA3543573GABRB2c.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
5g.161410964G=CA1596016626GABRB2c.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=)
5g.161410964G>TCA2676313980GABRB2c.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
5g.161410967C=CA1596016627GABRB2c.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=)
5g.161410967C>TCA1596016628GABRB2c.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
5g.161410968G>ACA3543574GABRB2c.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
5g.161410968G>CCA3543575GABRB2c.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
5g.161410968G=CA1596016629GABRB2c.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=)
5g.161410968G>TCA2676313981GABRB2c.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
5g.161410969A>GCA2710530710GABRB2c.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
5g.161410969A>TCA2676313982GABRB2c.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
5g.161410971T>CCA131028743GABRB2c.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
5g.161410971T=CA1596016630GABRB2c.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=)
5g.161410972T>CCA2676313983GABRB2c.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
5g.161410973A>CCA362172093GABRB2c.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)
5g.161410973A>GCA362172094GABRB2c.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)
5g.161410973A>TCA362172095GABRB2c.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)
5g.161410974C>ACA362172096GABRB2c.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)
5g.161410974C=CA1596016631GABRB2c.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=)
5g.161410974C>GCA362172097GABRB2c.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)
5g.161410974C>TCA3543576GABRB2c.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
5g.161410975A>CCA362172098GABRB2c.541T>G (p.Tyr181Asp)
n.623T>G
c.289T>G (p.Tyr97Asp)
c.61T>G (p.Tyr21Asp)
c.352T>G (p.Tyr118Asp)
5g.161410975A>GCA362172099GABRB2c.541T>C (p.Tyr181His)
n.623T>C
c.289T>C (p.Tyr97His)
c.61T>C (p.Tyr21His)
c.352T>C (p.Tyr118His)
5g.161410975A>TCA362172100GABRB2c.541T>A (p.Tyr181Asn)
n.623T>A
c.289T>A (p.Tyr97Asn)
c.61T>A (p.Tyr21Asn)
c.352T>A (p.Tyr118Asn)
5g.161410976G>ACA447605067GABRB2c.540C>T (p.Ser180=)
n.622C>T
c.288C>T (p.Ser96=)
c.60C>T (p.Ser20=)
c.351C>T (p.Ser117=)
5g.161410976G>CCA362172101GABRB2c.540C>G (p.Ser180Arg)
n.622C>G
c.288C>G (p.Ser96Arg)
c.60C>G (p.Ser20Arg)
c.351C>G (p.Ser117Arg)
5g.161410976G>TCA362172102GABRB2c.540C>A (p.Ser180Arg)
n.622C>A
c.288C>A (p.Ser96Arg)
c.60C>A (p.Ser20Arg)
c.351C>A (p.Ser117Arg)
5g.161410977C>ACA362172103GABRB2c.539G>T (p.Ser180Ile)
n.621G>T
c.287G>T (p.Ser96Ile)
c.59G>T (p.Ser20Ile)
c.350G>T (p.Ser117Ile)
5g.161410977C>GCA362172104GABRB2c.539G>C (p.Ser180Thr)
n.621G>C
c.287G>C (p.Ser96Thr)
c.59G>C (p.Ser20Thr)
c.350G>C (p.Ser117Thr)
5g.161410977C>TCA362172105GABRB2c.539G>A (p.Ser180Asn)
n.621G>A
c.287G>A (p.Ser96Asn)
c.59G>A (p.Ser20Asn)
c.350G>A (p.Ser117Asn)
5g.161410978T>ACA362172106GABRB2c.538A>T (p.Ser180Cys)
n.620A>T
c.286A>T (p.Ser96Cys)
c.58A>T (p.Ser20Cys)
c.349A>T (p.Ser117Cys)
5g.161410978T>CCA362172107GABRB2c.538A>G (p.Ser180Gly)
n.620A>G
c.286A>G (p.Ser96Gly)
c.58A>G (p.Ser20Gly)
c.349A>G (p.Ser117Gly)
5g.161410978T>GCA362172108GABRB2c.538A>C (p.Ser180Arg)
n.620A>C
c.286A>C (p.Ser96Arg)
c.58A>C (p.Ser20Arg)
c.349A>C (p.Ser117Arg)
5g.161410979C>ACA362172110GABRB2c.537G>T (p.Glu179Asp)
n.619G>T
c.285G>T (p.Glu95Asp)
c.57G>T (p.Glu19Asp)
c.348G>T (p.Glu116Asp)
5g.161410979C>GCA362172109GABRB2c.537G>C (p.Glu179Asp)
n.619G>C
c.285G>C (p.Glu95Asp)
c.57G>C (p.Glu19Asp)
c.348G>C (p.Glu116Asp)
5g.161410979C>TCA447605068GABRB2c.537G>A (p.Glu179=)
n.619G>A
c.285G>A (p.Glu95=)
c.57G>A (p.Glu19=)
c.348G>A (p.Glu116=)
5g.161410980T>ACA362172111GABRB2c.536A>T (p.Glu179Val)
n.618A>T
c.284A>T (p.Glu95Val)
c.56A>T (p.Glu19Val)
c.347A>T (p.Glu116Val)
5g.161410980T>CCA362172112GABRB2c.536A>G (p.Glu179Gly)
n.618A>G
c.284A>G (p.Glu95Gly)
c.56A>G (p.Glu19Gly)
c.347A>G (p.Glu116Gly)
5g.161410980T>GCA362172113GABRB2c.536A>C (p.Glu179Ala)
n.618A>C
c.284A>C (p.Glu95Ala)
c.56A>C (p.Glu19Ala)
c.347A>C (p.Glu116Ala)
5g.161410981C>ACA362172114GABRB2c.535G>T (p.Glu179Ter)
n.617G>T
c.283G>T (p.Glu95Ter)
c.55G>T (p.Glu19Ter)
c.346G>T (p.Glu116Ter)
5g.161410981C>GCA362172115GABRB2c.535G>C (p.Glu179Gln)
n.617G>C
c.283G>C (p.Glu95Gln)
c.55G>C (p.Glu19Gln)
c.346G>C (p.Glu116Gln)
5g.161410981C>TCA362172116GABRB2c.535G>A (p.Glu179Lys)
n.617G>A
c.283G>A (p.Glu95Lys)
c.55G>A (p.Glu19Lys)
c.346G>A (p.Glu116Lys)
 ClinVar
5g.161410982A=CA1596016632GABRB2c.534T= (p.Ile178=)
n.616T=
c.282T= (p.Ile94=)
c.54T= (p.Ile18=)
c.345T= (p.Ile115=)
5g.161410982A>CCA362172117GABRB2c.534T>G (p.Ile178Met)
n.616T>G
c.282T>G (p.Ile94Met)
c.54T>G (p.Ile18Met)
c.345T>G (p.Ile115Met)
5g.161410982A>GCA447605069GABRB2c.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
5g.161410982A>TCA447605070GABRB2c.534T>A (p.Ile178=)
n.616T>A
c.282T>A (p.Ile94=)
c.54T>A (p.Ile18=)
c.345T>A (p.Ile115=)
5g.161410983A>CCA362172120GABRB2c.533T>G (p.Ile178Ser)
n.615T>G
c.281T>G (p.Ile94Ser)
c.53T>G (p.Ile18Ser)
c.344T>G (p.Ile115Ser)
5g.161410983A>GCA362172118GABRB2c.533T>C (p.Ile178Thr)
n.615T>C
c.281T>C (p.Ile94Thr)
c.53T>C (p.Ile18Thr)
c.344T>C (p.Ile115Thr)
5g.161410983A>TCA362172119GABRB2c.533T>A (p.Ile178Asn)
n.615T>A
c.281T>A (p.Ile94Asn)
c.53T>A (p.Ile18Asn)
c.344T>A (p.Ile115Asn)
5g.161410984T>ACA362172121GABRB2c.532A>T (p.Ile178Phe)
n.614A>T
c.280A>T (p.Ile94Phe)
c.52A>T (p.Ile18Phe)
c.343A>T (p.Ile115Phe)
5g.161410984T>CCA362172122GABRB2c.532A>G (p.Ile178Val)
n.614A>G
c.280A>G (p.Ile94Val)
c.52A>G (p.Ile18Val)
c.343A>G (p.Ile115Val)
5g.161410984T>GCA362172123GABRB2c.532A>C (p.Ile178Leu)
n.614A>C
c.280A>C (p.Ile94Leu)
c.52A>C (p.Ile18Leu)
c.343A>C (p.Ile115Leu)
5g.161410985T>ACA362172124GABRB2c.531A>T (p.Glu177Asp)
n.613A>T
c.279A>T (p.Glu93Asp)
c.51A>T (p.Glu17Asp)
c.342A>T (p.Glu114Asp)
5g.161410985T>CCA447605071GABRB2c.531A>G (p.Glu177=)
n.613A>G
c.279A>G (p.Glu93=)
c.51A>G (p.Glu17=)
c.342A>G (p.Glu114=)
5g.161410985T>GCA362172125GABRB2c.531A>C (p.Glu177Asp)
n.613A>C
c.279A>C (p.Glu93Asp)
c.51A>C (p.Glu17Asp)
c.342A>C (p.Glu114Asp)
5g.161410986T>ACA362172126GABRB2c.530A>T (p.Glu177Val)
n.612A>T
c.278A>T (p.Glu93Val)
c.50A>T (p.Glu17Val)
c.341A>T (p.Glu114Val)
5g.161410986T>CCA362172128GABRB2c.530A>G (p.Glu177Gly)
n.612A>G
c.278A>G (p.Glu93Gly)
c.50A>G (p.Glu17Gly)
c.341A>G (p.Glu114Gly)
5g.161410986T>GCA362172127GABRB2c.530A>C (p.Glu177Ala)
n.612A>C
c.278A>C (p.Glu93Ala)
c.50A>C (p.Glu17Ala)
c.341A>C (p.Glu114Ala)
5g.161410987C>ACA362172129GABRB2c.529G>T (p.Glu177Ter)
n.611G>T
c.277G>T (p.Glu93Ter)
c.49G>T (p.Glu17Ter)
c.340G>T (p.Glu114Ter)
5g.161410987C>GCA362172130GABRB2c.529G>C (p.Glu177Gln)
n.611G>C
c.277G>C (p.Glu93Gln)
c.49G>C (p.Glu17Gln)
c.340G>C (p.Glu114Gln)
5g.161410987C>TCA362172131GABRB2c.529G>A (p.Glu177Lys)
n.611G>A
c.277G>A (p.Glu93Lys)
c.49G>A (p.Glu17Lys)
c.340G>A (p.Glu114Lys)
5g.161410988C>ACA362172132GABRB2c.528G>T (p.Leu176Phe)
n.610G>T
c.276G>T (p.Leu92Phe)
c.48G>T (p.Leu16Phe)
c.339G>T (p.Leu113Phe)
 COSMIC COSMIC
5g.161410988C=CA1596016633GABRB2c.528G= (p.Leu176=)
n.610G=
c.276G= (p.Leu92=)
c.48G= (p.Leu16=)
c.339G= (p.Leu113=)
5g.161410988C>GCA362172133GABRB2c.528G>C (p.Leu176Phe)
n.610G>C
c.276G>C (p.Leu92Phe)
c.48G>C (p.Leu16Phe)
c.339G>C (p.Leu113Phe)
5g.161410988C>TCA447605072GABRB2c.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
5g.161410989A>CCA362172134GABRB2c.527T>G (p.Leu176Trp)
n.609T>G
c.275T>G (p.Leu92Trp)
c.47T>G (p.Leu16Trp)
c.338T>G (p.Leu113Trp)
5g.161410989A>GCA362172135GABRB2c.527T>C (p.Leu176Ser)
n.609T>C
c.275T>C (p.Leu92Ser)
c.47T>C (p.Leu16Ser)
c.338T>C (p.Leu113Ser)
5g.161410989A>TCA362172136GABRB2c.527T>A (p.Leu176Ter)
n.609T>A
c.275T>A (p.Leu92Ter)
c.47T>A (p.Leu16Ter)
c.338T>A (p.Leu113Ter)
5g.161410990A>CCA362172137GABRB2c.526T>G (p.Leu176Val)
n.608T>G
c.274T>G (p.Leu92Val)
c.46T>G (p.Leu16Val)
c.337T>G (p.Leu113Val)
5g.161410990A>GCA447605073GABRB2c.526T>C (p.Leu176=)
n.608T>C
c.274T>C (p.Leu92=)
c.46T>C (p.Leu16=)
c.337T>C (p.Leu113=)
 gnomAD v4
5g.161410990A>TCA362172138GABRB2c.526T>A (p.Leu176Met)
n.608T>A
c.274T>A (p.Leu92Met)
c.46T>A (p.Leu16Met)
c.337T>A (p.Leu113Met)
5g.161410991G>ACA3543577GABRB2c.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
5g.161410991G>CCA447605075GABRB2c.525C>G (p.Thr175=)
n.607C>G
c.273C>G (p.Thr91=)
c.45C>G (p.Thr15=)
c.336C>G (p.Thr112=)
5g.161410991G=CA1596016634GABRB2c.525C= (p.Thr175=)
n.607C=
c.273C= (p.Thr91=)
c.45C= (p.Thr15=)
c.336C= (p.Thr112=)
5g.161410991G>TCA447605074GABRB2c.525C>A (p.Thr175=)
n.607C>A
c.273C>A (p.Thr91=)
c.45C>A (p.Thr15=)
c.336C>A (p.Thr112=)
5g.161410992G>ACA362172141GABRB2c.524C>T (p.Thr175Ile)
n.606C>T
c.272C>T (p.Thr91Ile)
c.44C>T (p.Thr15Ile)
c.335C>T (p.Thr112Ile)
5g.161410992G>CCA362172140GABRB2c.524C>G (p.Thr175Ser)
n.606C>G
c.272C>G (p.Thr91Ser)
c.44C>G (p.Thr15Ser)
c.335C>G (p.Thr112Ser)
5g.161410992G>TCA362172139GABRB2c.524C>A (p.Thr175Asn)
n.606C>A
c.272C>A (p.Thr91Asn)
c.44C>A (p.Thr15Asn)
c.335C>A (p.Thr112Asn)
5g.161410993T>ACA362172142GABRB2c.523A>T (p.Thr175Ser)
n.605A>T
c.271A>T (p.Thr91Ser)
c.43A>T (p.Thr15Ser)
c.334A>T (p.Thr112Ser)
5g.161410993T>CCA362172143GABRB2c.523A>G (p.Thr175Ala)
n.605A>G
c.271A>G (p.Thr91Ala)
c.43A>G (p.Thr15Ala)
c.334A>G (p.Thr112Ala)
5g.161410993T>GCA362172144GABRB2c.523A>C (p.Thr175Pro)
n.605A>C
c.271A>C (p.Thr91Pro)
c.43A>C (p.Thr15Pro)
c.334A>C (p.Thr112Pro)
 COSMIC COSMIC
5g.161410994G>ACA447605076GABRB2c.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
5g.161410994G>CCA362172145GABRB2c.522C>G (p.Cys174Trp)
n.604C>G
c.270C>G (p.Cys90Trp)
c.42C>G (p.Cys14Trp)
c.333C>G (p.Cys111Trp)
5g.161410994G>TCA362172146GABRB2c.522C>A (p.Cys174Ter)
n.604C>A
c.270C>A (p.Cys90Ter)
c.42C>A (p.Cys14Ter)
c.333C>A (p.Cys111Ter)
5g.161410995C>ACA362172147GABRB2c.521G>T (p.Cys174Phe)
n.603G>T
c.269G>T (p.Cys90Phe)
c.41G>T (p.Cys14Phe)
c.332G>T (p.Cys111Phe)
 gnomAD v4
5g.161410995C>GCA362172148GABRB2c.521G>C (p.Cys174Ser)
n.603G>C
c.269G>C (p.Cys90Ser)
c.41G>C (p.Cys14Ser)
c.332G>C (p.Cys111Ser)
5g.161410995C>TCA362172149GABRB2c.521G>A (p.Cys174Tyr)
n.603G>A
c.269G>A (p.Cys90Tyr)
c.41G>A (p.Cys14Tyr)
c.332G>A (p.Cys111Tyr)
5g.161410996A>CCA362172150GABRB2c.520T>G (p.Cys174Gly)
n.602T>G
c.268T>G (p.Cys90Gly)
c.40T>G (p.Cys14Gly)
c.331T>G (p.Cys111Gly)
5g.161410996A>GCA362172151GABRB2c.520T>C (p.Cys174Arg)
n.602T>C
c.268T>C (p.Cys90Arg)
c.40T>C (p.Cys14Arg)
c.331T>C (p.Cys111Arg)
5g.161410996A>TCA362172152GABRB2c.520T>A (p.Cys174Ser)
n.602T>A
c.268T>A (p.Cys90Ser)
c.40T>A (p.Cys14Ser)
c.331T>A (p.Cys111Ser)
5g.161410997G>ACA447605077GABRB2c.519C>T (p.Asn173=)
n.601C>T
c.267C>T (p.Asn89=)
c.39C>T (p.Asn13=)
c.330C>T (p.Asn110=)
5g.161410997G>CCA362172153GABRB2c.519C>G (p.Asn173Lys)
n.601C>G
c.267C>G (p.Asn89Lys)
c.39C>G (p.Asn13Lys)
c.330C>G (p.Asn110Lys)
5g.161410997G>TCA362172154GABRB2c.519C>A (p.Asn173Lys)
n.601C>A
c.267C>A (p.Asn89Lys)
c.39C>A (p.Asn13Lys)
c.330C>A (p.Asn110Lys)
5g.161410998T>ACA362172157GABRB2c.518A>T (p.Asn173Ile)
n.600A>T
c.266A>T (p.Asn89Ile)
c.38A>T (p.Asn13Ile)
c.329A>T (p.Asn110Ile)
5g.161410998T>CCA362172156GABRB2c.518A>G (p.Asn173Ser)
n.600A>G
c.266A>G (p.Asn89Ser)
c.38A>G (p.Asn13Ser)
c.329A>G (p.Asn110Ser)
5g.161410998T>GCA362172155GABRB2c.518A>C (p.Asn173Thr)
n.600A>C
c.266A>C (p.Asn89Thr)
c.38A>C (p.Asn13Thr)
c.329A>C (p.Asn110Thr)
5g.161410999T>ACA362172158GABRB2c.517A>T (p.Asn173Tyr)
n.599A>T
c.265A>T (p.Asn89Tyr)
c.37A>T (p.Asn13Tyr)
c.328A>T (p.Asn110Tyr)
5g.161410999T>CCA362172159GABRB2c.517A>G (p.Asn173Asp)
n.599A>G
c.265A>G (p.Asn89Asp)
c.37A>G (p.Asn13Asp)
c.328A>G (p.Asn110Asp)
5g.161410999T>GCA362172160GABRB2c.517A>C (p.Asn173His)
n.599A>C
c.265A>C (p.Asn89His)
c.37A>C (p.Asn13His)
c.328A>C (p.Asn110His)
5g.161411000T>ACA362172161GABRB2c.516A>T (p.Gln172His)
n.598A>T
c.264A>T (p.Gln88His)
c.36A>T (p.Gln12His)
c.327A>T (p.Gln109His)
5g.161411000T>CCA447605078GABRB2c.516A>G (p.Gln172=)
n.598A>G
c.264A>G (p.Gln88=)
c.36A>G (p.Gln12=)
c.327A>G (p.Gln109=)
5g.161411000T>GCA362172162GABRB2c.516A>C (p.Gln172His)
n.598A>C
c.264A>C (p.Gln88His)
c.36A>C (p.Gln12His)
c.327A>C (p.Gln109His)
5g.161411001T>ACA362172163GABRB2c.515A>T (p.Gln172Leu)
n.597A>T
c.263A>T (p.Gln88Leu)
c.35A>T (p.Gln12Leu)
c.326A>T (p.Gln109Leu)
5g.161411001T>CCA362172164GABRB2c.515A>G (p.Gln172Arg)
n.597A>G
c.263A>G (p.Gln88Arg)
c.35A>G (p.Gln12Arg)
c.326A>G (p.Gln109Arg)
5g.161411001T>GCA362172165GABRB2c.515A>C (p.Gln172Pro)
n.597A>C
c.263A>C (p.Gln88Pro)
c.35A>C (p.Gln12Pro)
c.326A>C (p.Gln109Pro)
5g.161411002G>ACA362172166GABRB2c.514C>T (p.Gln172Ter)
n.596C>T
c.262C>T (p.Gln88Ter)
c.34C>T (p.Gln12Ter)
c.325C>T (p.Gln109Ter)
5g.161411002G>CCA362172167GABRB2c.514C>G (p.Gln172Glu)
n.596C>G
c.262C>G (p.Gln88Glu)
c.34C>G (p.Gln12Glu)
c.325C>G (p.Gln109Glu)
5g.161411002G>TCA362172168GABRB2c.514C>A (p.Gln172Lys)
n.596C>A
c.262C>A (p.Gln88Lys)
c.34C>A (p.Gln12Lys)
c.325C>A (p.Gln109Lys)
5g.161411003T>ACA362172169GABRB2c.513A>T (p.Glu171Asp)
n.595A>T
c.261A>T (p.Glu87Asp)
c.33A>T (p.Glu11Asp)
c.324A>T (p.Glu108Asp)
5g.161411003T>CCA3543578GABRB2c.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
5g.161411003T>GCA362172170GABRB2c.513A>C (p.Glu171Asp)
n.595A>C
c.261A>C (p.Glu87Asp)
c.33A>C (p.Glu11Asp)
c.324A>C (p.Glu108Asp)
5g.161411003T=CA1596016635GABRB2c.513A= (p.Glu171=)
n.595A=
c.261A= (p.Glu87=)
c.33A= (p.Glu11=)
c.324A= (p.Glu108=)
5g.161411004T>ACA362172172GABRB2c.512A>T (p.Glu171Val)
n.594A>T
c.260A>T (p.Glu87Val)
c.32A>T (p.Glu11Val)
c.323A>T (p.Glu108Val)
5g.161411004T>CCA362172173GABRB2c.512A>G (p.Glu171Gly)
n.594A>G
c.260A>G (p.Glu87Gly)
c.32A>G (p.Glu11Gly)
c.323A>G (p.Glu108Gly)
5g.161411004T>GCA362172171GABRB2c.512A>C (p.Glu171Ala)
n.594A>C
c.260A>C (p.Glu87Ala)
c.32A>C (p.Glu11Ala)
c.323A>C (p.Glu108Ala)
5g.161411005C>ACA362172174GABRB2c.511G>T (p.Glu171Ter)
n.593G>T
c.259G>T (p.Glu87Ter)
c.31G>T (p.Glu11Ter)
c.322G>T (p.Glu108Ter)
5g.161411005C>GCA362172175GABRB2c.511G>C (p.Glu171Gln)
n.593G>C
c.259G>C (p.Glu87Gln)
c.31G>C (p.Glu11Gln)
c.322G>C (p.Glu108Gln)
5g.161411005C>TCA362172176GABRB2c.511G>A (p.Glu171Lys)
n.593G>A
c.259G>A (p.Glu87Lys)
c.31G>A (p.Glu11Lys)
c.322G>A (p.Glu108Lys)
5g.161411006A>CCA362172177GABRB2c.510T>G (p.Asp170Glu)
n.592T>G
c.258T>G (p.Asp86Glu)
c.30T>G (p.Asp10Glu)
c.321T>G (p.Asp107Glu)
5g.161411006A>GCA447605079GABRB2c.510T>C (p.Asp170=)
n.592T>C
c.258T>C (p.Asp86=)
c.30T>C (p.Asp10=)
c.321T>C (p.Asp107=)
5g.161411006A>TCA362172178GABRB2c.510T>A (p.Asp170Glu)
n.592T>A
c.258T>A (p.Asp86Glu)
c.30T>A (p.Asp10Glu)
c.321T>A (p.Asp107Glu)
5g.161411007T>ACA362172179GABRB2c.509A>T (p.Asp170Val)
n.591A>T
c.257A>T (p.Asp86Val)
c.29A>T (p.Asp10Val)
c.320A>T (p.Asp107Val)
5g.161411007T>CCA362172180GABRB2c.509A>G (p.Asp170Gly)
n.591A>G
c.257A>G (p.Asp86Gly)
c.29A>G (p.Asp10Gly)
c.320A>G (p.Asp107Gly)
5g.161411007T>GCA362172181GABRB2c.509A>C (p.Asp170Ala)
n.591A>C
c.257A>C (p.Asp86Ala)
c.29A>C (p.Asp10Ala)
c.320A>C (p.Asp107Ala)
5g.161411008C>ACA362172183GABRB2c.508G>T (p.Asp170Tyr)
n.590G>T
c.256G>T (p.Asp86Tyr)
c.28G>T (p.Asp10Tyr)
c.319G>T (p.Asp107Tyr)
5g.161411008C>GCA362172184GABRB2c.508G>C (p.Asp170His)
n.590G>C
c.256G>C (p.Asp86His)
c.28G>C (p.Asp10His)
c.319G>C (p.Asp107His)
5g.161411008C>TCA362172185GABRB2c.508G>A (p.Asp170Asn)
n.590G>A
c.256G>A (p.Asp86Asn)
c.28G>A (p.Asp10Asn)
c.319G>A (p.Asp107Asn)
5g.161411009C>ACA447605081GABRB2c.507G>T (p.Leu169=)
n.589G>T
c.255G>T (p.Leu85=)
c.27G>T (p.Leu9=)
c.318G>T (p.Leu106=)
5g.161411009C=CA1596016636GABRB2c.507G= (p.Leu169=)
n.589G=
c.255G= (p.Leu85=)
c.27G= (p.Leu9=)
c.318G= (p.Leu106=)
5g.161411009C>GCA447605082GABRB2c.507G>C (p.Leu169=)
n.589G>C
c.255G>C (p.Leu85=)
c.27G>C (p.Leu9=)
c.318G>C (p.Leu106=)
5g.161411009C>TCA447605080GABRB2c.507G>A (p.Leu169=)
n.589G>A
c.255G>A (p.Leu85=)
c.27G>A (p.Leu9=)
c.318G>A (p.Leu106=)
 dbSNP
5g.161411010A>CCA362172186GABRB2c.506T>G (p.Leu169Arg)
n.588T>G
c.254T>G (p.Leu85Arg)
c.26T>G (p.Leu9Arg)
c.317T>G (p.Leu106Arg)
5g.161411010A>GCA362172187GABRB2c.506T>C (p.Leu169Pro)
n.588T>C
c.254T>C (p.Leu85Pro)
c.26T>C (p.Leu9Pro)
c.317T>C (p.Leu106Pro)
5g.161411010A>TCA362172188GABRB2c.506T>A (p.Leu169Gln)
n.588T>A
c.254T>A (p.Leu85Gln)
c.26T>A (p.Leu9Gln)
c.317T>A (p.Leu106Gln)
5g.161411011G>ACA447605083GABRB2c.505C>T (p.Leu169=)
n.587C>T
c.253C>T (p.Leu85=)
c.25C>T (p.Leu9=)
c.316C>T (p.Leu106=)
5g.161411011G>CCA362172189GABRB2c.505C>G (p.Leu169Val)
n.587C>G
c.253C>G (p.Leu85Val)
c.25C>G (p.Leu9Val)
c.316C>G (p.Leu106Val)
5g.161411011G>TCA362172190GABRB2c.505C>A (p.Leu169Met)
n.587C>A
c.253C>A (p.Leu85Met)
c.25C>A (p.Leu9Met)
c.316C>A (p.Leu106Met)
5g.161411012T>ACA447605084GABRB2c.504A>T (p.Pro168=)
n.586A>T
c.252A>T (p.Pro84=)
c.24A>T (p.Pro8=)
c.315A>T (p.Pro105=)
5g.161411012T>CCA447605086GABRB2c.504A>G (p.Pro168=)
n.586A>G
c.252A>G (p.Pro84=)
c.24A>G (p.Pro8=)
c.315A>G (p.Pro105=)
5g.161411012T>GCA447605085GABRB2c.504A>C (p.Pro168=)
n.586A>C
c.252A>C (p.Pro84=)
c.24A>C (p.Pro8=)
c.315A>C (p.Pro105=)
5g.161411013G>ACA362172191GABRB2c.503C>T (p.Pro168Leu)
n.585C>T
c.251C>T (p.Pro84Leu)
c.23C>T (p.Pro8Leu)
c.314C>T (p.Pro105Leu)
5g.161411013G>CCA362172192GABRB2c.503C>G (p.Pro168Arg)
n.585C>G
c.251C>G (p.Pro84Arg)
c.23C>G (p.Pro8Arg)
c.314C>G (p.Pro105Arg)
5g.161411013G>TCA362172193GABRB2c.503C>A (p.Pro168Gln)
n.585C>A
c.251C>A (p.Pro84Gln)
c.23C>A (p.Pro8Gln)
c.314C>A (p.Pro105Gln)
5g.161411015dupCA2567463274GABRB2c.503dup (p.Leu169ThrfsTer3)
n.585dup
c.251dup (p.Leu85ThrfsTer3)
c.23dup (p.Leu9ThrfsTer3)
c.314dup (p.Leu106ThrfsTer3)
5g.161411015delCA2739272772GABRB2c.503del (p.Pro168HisfsTer?)
n.585del
c.251del (p.Pro84HisfsTer17)
c.251del (p.Pro84HisfsTer?)
c.23del (p.Pro8HisfsTer?)
c.314del (p.Pro105HisfsTer?)
 ClinVar
5g.161411014G>ACA362172194GABRB2c.502C>T (p.Pro168Ser)
n.584C>T
c.250C>T (p.Pro84Ser)
c.22C>T (p.Pro8Ser)
c.313C>T (p.Pro105Ser)
5g.161411014G>CCA362172195GABRB2c.502C>G (p.Pro168Ala)
n.584C>G
c.250C>G (p.Pro84Ala)
c.22C>G (p.Pro8Ala)
c.313C>G (p.Pro105Ala)
5g.161411014G>TCA362172196GABRB2c.502C>A (p.Pro168Thr)
n.584C>A
c.250C>A (p.Pro84Thr)
c.22C>A (p.Pro8Thr)
c.313C>A (p.Pro105Thr)
5g.161411015G>ACA447605087GABRB2c.501C>T (p.Tyr167=)
n.583C>T
c.249C>T (p.Tyr83=)
c.21C>T (p.Tyr7=)
c.312C>T (p.Tyr104=)
5g.161411015G>CCA362172197GABRB2c.501C>G (p.Tyr167Ter)
n.583C>G
c.249C>G (p.Tyr83Ter)
c.21C>G (p.Tyr7Ter)
c.312C>G (p.Tyr104Ter)
5g.161411015G>TCA362172198GABRB2c.501C>A (p.Tyr167Ter)
n.583C>A
c.249C>A (p.Tyr83Ter)
c.21C>A (p.Tyr7Ter)
c.312C>A (p.Tyr104Ter)
5g.161411016T>ACA362172199GABRB2c.500A>T (p.Tyr167Phe)
n.582A>T
c.248A>T (p.Tyr83Phe)
c.20A>T (p.Tyr7Phe)
c.311A>T (p.Tyr104Phe)
5g.161411016T>CCA362172200GABRB2c.500A>G (p.Tyr167Cys)
n.582A>G
c.248A>G (p.Tyr83Cys)
c.20A>G (p.Tyr7Cys)
c.311A>G (p.Tyr104Cys)
5g.161411016T>GCA362172201GABRB2c.500A>C (p.Tyr167Ser)
n.582A>C
c.248A>C (p.Tyr83Ser)
c.20A>C (p.Tyr7Ser)
c.311A>C (p.Tyr104Ser)
5g.161411017A>CCA362172202GABRB2c.499T>G (p.Tyr167Asp)
n.581T>G
c.247T>G (p.Tyr83Asp)
c.19T>G (p.Tyr7Asp)
c.310T>G (p.Tyr104Asp)
5g.161411017A>GCA362172204GABRB2c.499T>C (p.Tyr167His)
n.581T>C
c.247T>C (p.Tyr83His)
c.19T>C (p.Tyr7His)
c.310T>C (p.Tyr104His)
5g.161411017A>TCA362172203GABRB2c.499T>A (p.Tyr167Asn)
n.581T>A
c.247T>A (p.Tyr83Asn)
c.19T>A (p.Tyr7Asn)
c.310T>A (p.Tyr104Asn)
 COSMIC
5g.161411018C>ACA362172205GABRB2c.498G>T (p.Arg166Ser)
n.580G>T
c.246G>T (p.Arg82Ser)
c.18G>T (p.Arg6Ser)
c.309G>T (p.Arg103Ser)
5g.161411018C>GCA362172206GABRB2c.498G>C (p.Arg166Ser)
n.580G>C
c.246G>C (p.Arg82Ser)
c.18G>C (p.Arg6Ser)
c.309G>C (p.Arg103Ser)
5g.161411018C>TCA447605088GABRB2c.498G>A (p.Arg166=)
n.580G>A
c.246G>A (p.Arg82=)
c.18G>A (p.Arg6=)
c.309G>A (p.Arg103=)
 gnomAD v4
5g.161411019C>ACA362172207GABRB2c.497G>T (p.Arg166Met)
n.579G>T
c.245G>T (p.Arg82Met)
c.17G>T (p.Arg6Met)
c.308G>T (p.Arg103Met)
5g.161411019C>GCA362172209GABRB2c.497G>C (p.Arg166Thr)
n.579G>C
c.245G>C (p.Arg82Thr)
c.17G>C (p.Arg6Thr)
c.308G>C (p.Arg103Thr)
5g.161411019C>TCA362172208GABRB2c.497G>A (p.Arg166Lys)
n.579G>A
c.245G>A (p.Arg82Lys)
c.17G>A (p.Arg6Lys)
c.308G>A (p.Arg103Lys)
5g.161411020T>ACA362172210GABRB2c.496A>T (p.Arg166Trp)
n.578A>T
c.244A>T (p.Arg82Trp)
c.16A>T (p.Arg6Trp)
c.307A>T (p.Arg103Trp)
 COSMIC COSMIC
5g.161411020T>CCA362172211GABRB2c.496A>G (p.Arg166Gly)
n.578A>G
c.244A>G (p.Arg82Gly)
c.16A>G (p.Arg6Gly)
c.307A>G (p.Arg103Gly)
5g.161411020T>GCA447605089GABRB2c.496A>C (p.Arg166=)
n.578A>C
c.244A>C (p.Arg82=)
c.16A>C (p.Arg6=)
c.307A>C (p.Arg103=)
5g.161411021C>ACA362172212GABRB2c.495G>T (p.Arg165Ser)
n.577G>T
c.243G>T (p.Arg81Ser)
c.15G>T (p.Arg5Ser)
c.306G>T (p.Arg102Ser)
5g.161411021C=CA1596016637GABRB2c.495G= (p.Arg165=)
n.577G=
c.243G= (p.Arg81=)
c.15G= (p.Arg5=)
c.306G= (p.Arg102=)
5g.161411021C>GCA362172213GABRB2c.495G>C (p.Arg165Ser)
n.577G>C
c.243G>C (p.Arg81Ser)
c.15G>C (p.Arg5Ser)
c.306G>C (p.Arg102Ser)
5g.161411021C>TCA447605090GABRB2c.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
5g.161411022C>ACA362172214GABRB2c.494G>T (p.Arg165Met)
n.576G>T
c.242G>T (p.Arg81Met)
c.14G>T (p.Arg5Met)
c.305G>T (p.Arg102Met)
5g.161411022C>GCA362172215GABRB2c.494G>C (p.Arg165Thr)
n.576G>C
c.242G>C (p.Arg81Thr)
c.14G>C (p.Arg5Thr)
c.305G>C (p.Arg102Thr)
5g.161411022C>TCA362172216GABRB2c.494G>A (p.Arg165Lys)
n.576G>A
c.242G>A (p.Arg81Lys)
c.14G>A (p.Arg5Lys)
c.305G>A (p.Arg102Lys)
 COSMIC COSMIC
5g.161411023T>ACA362172217GABRB2c.493A>T (p.Arg165Trp)
n.575A>T
c.241A>T (p.Arg81Trp)
c.13A>T (p.Arg5Trp)
c.304A>T (p.Arg102Trp)
 COSMIC COSMIC
5g.161411023T>CCA362172218GABRB2c.493A>G (p.Arg165Gly)
n.575A>G
c.241A>G (p.Arg81Gly)
c.13A>G (p.Arg5Gly)
c.304A>G (p.Arg102Gly)
5g.161411023T>GCA447605091GABRB2c.493A>C (p.Arg165=)
n.575A>C
c.241A>C (p.Arg81=)
c.13A>C (p.Arg5=)
c.304A>C (p.Arg102=)
5g.161411024T>ACA447605092GABRB2c.492A>T (p.Leu164=)
n.574A>T
c.240A>T (p.Leu80=)
c.12A>T (p.Leu4=)
c.303A>T (p.Leu101=)
5g.161411024T>CCA447605093GABRB2c.492A>G (p.Leu164=)
n.574A>G
c.240A>G (p.Leu80=)
c.12A>G (p.Leu4=)
c.303A>G (p.Leu101=)
5g.161411024T>GCA447605094GABRB2c.492A>C (p.Leu164=)
n.574A>C
c.240A>C (p.Leu80=)
c.12A>C (p.Leu4=)
c.303A>C (p.Leu101=)
5g.161411025A>CCA362172219GABRB2c.491T>G (p.Leu164Arg)
n.573T>G
c.239T>G (p.Leu80Arg)
c.11T>G (p.Leu4Arg)
c.302T>G (p.Leu101Arg)
5g.161411025A>GCA362172220GABRB2c.491T>C (p.Leu164Pro)
n.573T>C
c.239T>C (p.Leu80Pro)
c.11T>C (p.Leu4Pro)
c.302T>C (p.Leu101Pro)
5g.161411025A>TCA362172221GABRB2c.491T>A (p.Leu164Gln)
n.573T>A
c.239T>A (p.Leu80Gln)
c.11T>A (p.Leu4Gln)
c.302T>A (p.Leu101Gln)
5g.161411026G>ACA3543579GABRB2c.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
5g.161411026G>CCA362172222GABRB2c.490C>G (p.Leu164Val)
n.572C>G
c.238C>G (p.Leu80Val)
c.10C>G (p.Leu4Val)
c.301C>G (p.Leu101Val)
5g.161411026G=CA1596016638GABRB2c.490C= (p.Leu164=)
n.572C=
c.238C= (p.Leu80=)
c.10C= (p.Leu4=)
c.301C= (p.Leu101=)
5g.161411026G>TCA362172223GABRB2c.490C>A (p.Leu164Ile)
n.572C>A
c.238C>A (p.Leu80Ile)
c.10C>A (p.Leu4Ile)
c.301C>A (p.Leu101Ile)
5g.161411027G>ACA447605095GABRB2c.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
5g.161411027G>CCA362172224GABRB2c.489C>G (p.Asp163Glu)
n.571C>G
c.237C>G (p.Asp79Glu)
c.9C>G (p.Asp3Glu)
c.300C>G (p.Asp100Glu)
5g.161411027G=CA1596016639GABRB2c.489C= (p.Asp163=)
n.571C=
c.237C= (p.Asp79=)
c.9C= (p.Asp3=)
c.300C= (p.Asp100=)
5g.161411027G>TCA362172225GABRB2c.489C>A (p.Asp163Glu)
n.571C>A
c.237C>A (p.Asp79Glu)
c.9C>A (p.Asp3Glu)
c.300C>A (p.Asp100Glu)
5g.161411028T>ACA362172226GABRB2c.488A>T (p.Asp163Val)
n.570A>T
c.236A>T (p.Asp79Val)
c.8A>T (p.Asp3Val)
c.299A>T (p.Asp100Val)
5g.161411028T>CCA362172227GABRB2c.488A>G (p.Asp163Gly)
n.570A>G
c.236A>G (p.Asp79Gly)
c.8A>G (p.Asp3Gly)
c.299A>G (p.Asp100Gly)
 gnomAD v4
5g.161411028T>GCA362172228GABRB2c.488A>C (p.Asp163Ala)
n.570A>C
c.236A>C (p.Asp79Ala)
c.8A>C (p.Asp3Ala)
c.299A>C (p.Asp100Ala)
5g.161411029C>ACA362172229GABRB2c.487G>T (p.Asp163Tyr)
n.569G>T
c.235G>T (p.Asp79Tyr)
c.7G>T (p.Asp3Tyr)
c.298G>T (p.Asp100Tyr)
5g.161411029C>GCA362172230GABRB2c.487G>C (p.Asp163His)
n.569G>C
c.235G>C (p.Asp79His)
c.7G>C (p.Asp3His)
c.298G>C (p.Asp100His)
 COSMIC COSMIC
5g.161411029C>TCA362172231GABRB2c.487G>A (p.Asp163Asn)
n.569G>A
c.235G>A (p.Asp79Asn)
c.7G>A (p.Asp3Asn)
c.298G>A (p.Asp100Asn)
5g.161411030C>ACA362172232GABRB2c.486G>T (p.Met162Ile)
n.568G>T
c.234G>T (p.Met78Ile)
c.6G>T (p.Met2Ile)
c.297G>T (p.Met99Ile)
5g.161411030C>GCA362172233GABRB2c.486G>C (p.Met162Ile)
n.568G>C
c.234G>C (p.Met78Ile)
c.6G>C (p.Met2Ile)
c.297G>C (p.Met99Ile)
5g.161411030C>TCA362172234GABRB2c.486G>A (p.Met162Ile)
n.568G>A
c.234G>A (p.Met78Ile)
c.6G>A (p.Met2Ile)
c.297G>A (p.Met99Ile)
5g.161411031A=CA1596016640GABRB2c.485T= (p.Met162=)
n.567T=
c.233T= (p.Met78=)
c.5T= (p.Met2=)
c.296T= (p.Met99=)
5g.161411031A>CCA362172237GABRB2c.485T>G (p.Met162Arg)
n.567T>G
c.233T>G (p.Met78Arg)
c.5T>G (p.Met2Arg)
c.296T>G (p.Met99Arg)
 ClinVar dbSNP
5g.161411031A>GCA362172236GABRB2c.485T>C (p.Met162Thr)
n.567T>C
c.233T>C (p.Met78Thr)
c.5T>C (p.Met2Thr)
c.296T>C (p.Met99Thr)
5g.161411031A>TCA362172235GABRB2c.485T>A (p.Met162Lys)
n.567T>A
c.233T>A (p.Met78Lys)
c.5T>A (p.Met2Lys)
c.296T>A (p.Met99Lys)
5g.161411032T>ACA362172240GABRB2c.484A>T (p.Met162Leu)
n.566A>T
c.232A>T (p.Met78Leu)
c.4A>T (p.Met2Leu)
c.295A>T (p.Met99Leu)
5g.161411032T>CCA362172238GABRB2c.484A>G (p.Met162Val)
n.566A>G
c.232A>G (p.Met78Val)
c.4A>G (p.Met2Val)
c.295A>G (p.Met99Val)
5g.161411032T>GCA362172239GABRB2c.484A>C (p.Met162Leu)
n.566A>C
c.232A>C (p.Met78Leu)
c.4A>C (p.Met2Leu)
c.295A>C (p.Met99Leu)
5g.161411033C>ACA362172241GABRB2c.483G>T (p.Met161Ile)
n.565G>T
c.231G>T (p.Met77Ile)
c.3G>T (p.Met1Ile)
c.294G>T (p.Met98Ile)
5g.161411033C=CA1596016641GABRB2c.483G= (p.Met161=)
n.565G=
c.231G= (p.Met77=)
c.3G= (p.Met1=)
c.294G= (p.Met98=)
5g.161411033C>GCA362172242GABRB2c.483G>C (p.Met161Ile)
n.565G>C
c.231G>C (p.Met77Ile)
c.3G>C (p.Met1Ile)
c.294G>C (p.Met98Ile)
5g.161411033C>TCA362172243GABRB2c.483G>A (p.Met161Ile)
n.565G>A
c.231G>A (p.Met77Ile)
c.3G>A (p.Met1Ile)
c.294G>A (p.Met98Ile)
 dbSNP
5g.161411034A=CA1596016642GABRB2c.482T= (p.Met161=)
n.564T=
c.230T= (p.Met77=)
c.2T= (p.Met1=)
c.293T= (p.Met98=)
5g.161411034A>CCA362172244GABRB2c.482T>G (p.Met161Arg)
n.564T>G
c.230T>G (p.Met77Arg)
c.2T>G (p.Met1Arg)
c.293T>G (p.Met98Arg)
5g.161411034A>GCA16604729GABRB2c.482T>C (p.Met161Thr)
n.564T>C
c.230T>C (p.Met77Thr)
c.2T>C (p.Met1Thr)
c.293T>C (p.Met98Thr)
 ClinVar dbSNP
5g.161411034A>TCA362172245GABRB2c.482T>A (p.Met161Lys)
n.564T>A
c.230T>A (p.Met77Lys)
c.2T>A (p.Met1Lys)
c.293T>A (p.Met98Lys)

Number of alleles fetched