NM_000481.4(AMT):c.635T>C (p.Val212Ala)
|
rs201141125
|
0.00024
|
NM_000170.3(GLDC):c.2518A>G (p.Met840Val)
|
rs781693346
|
0.00011
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)
|
rs386833680
|
0.00006
|
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)
|
rs1126422
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000170.3(GLDC):c.2809C>T (p.Arg937Cys)
|
rs766928717
|
0.00002
|
NM_000481.4(AMT):c.794G>A (p.Arg265His)
|
rs757918826
|
0.00002
|
NM_000170.3(GLDC):c.1078G>C (p.Val360Leu)
|
rs373482451
|
0.00001
|
NM_000481.4(AMT):c.139G>A (p.Gly47Arg)
|
rs121964982
|
0.00001
|
NM_000481.4(AMT):c.212A>C (p.His71Pro)
|
rs1053797603
|
0.00001
|
NM_000481.4(AMT):c.350C>T (p.Ser117Leu)
|
rs769468125
|
0.00001
|
NM_000481.4(AMT):c.46C>T (p.Gln16Ter)
|
rs2049124862
|
0.00001
|
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)
|
rs558998633
|
0.00001
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
NM_000481.4(AMT):c.665G>A (p.Arg222His)
|
rs562695274
|
0.00001
|
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)
|
rs779483959
|
0.00001
|
NM_000481.4(AMT):c.826G>C (p.Asp276His)
|
rs121964984
|
0.00001
|
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)
|
rs766422988
|
0.00001
|
NM_000170.3(GLDC):c.1059-1G>T
|
rs1587958061
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.1871C>G (p.Ala624Gly)
|
rs779980470
|
|
NM_000170.3(GLDC):c.2052+1G>A
|
rs765906340
|
|
NM_000170.3(GLDC):c.2186C>A (p.Ala729Glu)
|
|
|
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser)
|
rs386833551
|
|
NM_000170.3(GLDC):c.793del (p.Gln265fs)
|
rs386833586
|
|
NM_000170.3(GLDC):c.83C>T (p.Pro28Leu)
|
rs1819724719
|
|
NM_000481.4(AMT):c.1056del (p.Ser353fs)
|
rs2049022161
|
|
NM_000481.4(AMT):c.1063dup (p.Ser355fs)
|
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
NM_000481.4(AMT):c.1107_1108del (p.Tyr369_Ser370delinsTer)
|
rs2049020585
|
|
NM_000481.4(AMT):c.116_117del (p.Leu38_Tyr39insTer)
|
|
|
NM_000481.4(AMT):c.14dup (p.Ser6fs)
|
rs773988915
|
|
NM_000481.4(AMT):c.15_18del (p.Ser6fs)
|
rs1553638904
|
|
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)
|
rs1483890972
|
|
NM_000481.4(AMT):c.259-2A>T
|
|
|
NM_000481.4(AMT):c.339+2T>C
|
|
|
NM_000481.4(AMT):c.419dup (p.Tyr141fs)
|
|
|
NM_000481.4(AMT):c.434A>T (p.Asn145Ile)
|
rs386833682
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
NM_000481.4(AMT):c.471+2_471+7del
|
|
|
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)
|
rs121964986
|
|
NM_000481.4(AMT):c.657dup (p.Val220fs)
|
rs2049058298
|
|
NM_000481.4(AMT):c.665G>T (p.Arg222Leu)
|
rs562695274
|
|
NM_000481.4(AMT):c.696G>A (p.Glu232=)
|
rs1352631535
|
|
NM_000481.4(AMT):c.964_976dup (p.Glu326delinsGlyValAspValTer)
|
|
|
NM_000481.4(AMT):c.982dup (p.Ala328fs)
|
rs1553638266
|
|