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_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000481.4(AMT):c.794G>A (p.Arg265His)
|
rs757918826
|
0.00002
|
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.317T>C (p.Ile106Thr)
|
rs1249645541
|
0.00001
|
NM_000481.4(AMT):c.339+1G>A
|
rs1575308129
|
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.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_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
NM_000481.4(AMT):c.996dup (p.His333fs)
|
rs2049025668
|
0.00001
|
NC_000003.12:g.(?_49419700)_(49419798_?)dup
|
|
|
NM_000481.4(AMT):c.1034-1dup
|
rs1238918084
|
|
NM_000481.4(AMT):c.1056del (p.Ser353fs)
|
rs2049022161
|
|
NM_000481.4(AMT):c.1058C>A (p.Ser353Tyr)
|
rs768293167
|
|
NM_000481.4(AMT):c.1063dup (p.Ser355fs)
|
|
|
NM_000481.4(AMT):c.1066_1067del (p.Leu356fs)
|
|
|
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)
|
rs768940499
|
|
NM_000481.4(AMT):c.1087G>A (p.Gly363Ser)
|
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
NM_000481.4(AMT):c.116_117del (p.Leu38_Tyr39insTer)
|
|
|
NM_000481.4(AMT):c.139G>T (p.Gly47Trp)
|
rs121964982
|
|
NM_000481.4(AMT):c.144_148del (p.Lys48fs)
|
rs1553638822
|
|
NM_000481.4(AMT):c.148del (p.Val50fs)
|
rs386833678
|
|
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)
|
rs1483890972
|
|
NM_000481.4(AMT):c.217C>G (p.Arg73Gly)
|
|
|
NM_000481.4(AMT):c.230C>A (p.Ser77Ter)
|
rs386833680
|
|
NM_000481.4(AMT):c.248A>C (p.His83Pro)
|
|
|
NM_000481.4(AMT):c.258+1G>A
|
|
|
NM_000481.4(AMT):c.259-1G>C
|
rs386833681
|
|
NM_000481.4(AMT):c.259-2A>T
|
|
|
NM_000481.4(AMT):c.281G>A (p.Arg94Gln)
|
|
|
NM_000481.4(AMT):c.293T>G (p.Met98Arg)
|
rs2107935989
|
|
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)
|
rs753221440
|
|
NM_000481.4(AMT):c.339+2T>C
|
|
|
NM_000481.4(AMT):c.348_349del (p.Ser117fs)
|
rs1553638649
|
|
NM_000481.4(AMT):c.381_383delinsGG (p.Asp128fs)
|
rs2107933735
|
|
NM_000481.4(AMT):c.383del (p.Asp128fs)
|
rs2107933731
|
|
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.472-2A>T
|
rs2107932966
|
|
NM_000481.4(AMT):c.535del (p.Leu179fs)
|
rs386833685
|
|
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)
|
rs121964986
|
|
NM_000481.4(AMT):c.657dup (p.Val220fs)
|
rs2049058298
|
|
NM_000481.4(AMT):c.664C>A (p.Arg222Ser)
|
rs781466698
|
|
NM_000481.4(AMT):c.665G>T (p.Arg222Leu)
|
rs562695274
|
|
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys)
|
rs386833689
|
|
NM_000481.4(AMT):c.685G>C (p.Asp229His)
|
rs1553638463
|
|
NM_000481.4(AMT):c.695_696+21del
|
rs1553638457
|
|
NM_000481.4(AMT):c.696+1G>A
|
rs1553638460
|
|
NM_000481.4(AMT):c.696+2T>A
|
rs541594122
|
|
NM_000481.4(AMT):c.696G>A (p.Glu232=)
|
rs1352631535
|
|
NM_000481.4(AMT):c.697-1G>A
|
|
|
NM_000481.4(AMT):c.697-2A>C
|
|
|
NM_000481.4(AMT):c.797T>C (p.Leu266Pro)
|
rs2049051428
|
|
NM_000481.4(AMT):c.826G>A (p.Asp276Asn)
|
|
|
NM_000481.4(AMT):c.845C>T (p.Thr282Ile)
|
|
|
NM_000481.4(AMT):c.849dup (p.Val284fs)
|
rs1553638408
|
|
NM_000481.4(AMT):c.875del (p.Leu292fs)
|
rs1553638405
|
|
NM_000481.4(AMT):c.877+5G>A
|
|
|
NM_000481.4(AMT):c.886C>G (p.Arg296Gly)
|
|
|
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)
|
rs1056820947
|
|
NM_000481.4(AMT):c.887G>T (p.Arg296Leu)
|
rs386833690
|
|
NM_000481.4(AMT):c.91-2A>G
|
|
|
NM_000481.4(AMT):c.954_959delinsAAGGCA (p.Arg320His)
|
|
|
NM_000481.4(AMT):c.964_976dup (p.Glu326delinsGlyValAspValTer)
|
|
|
NM_000481.4(AMT):c.970_972del (p.Met324del)
|
rs386833691
|
|
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)
|
rs386833692
|
|
NM_000481.4(AMT):c.982del (p.Ala328fs)
|
rs1553638266
|
|
NM_000481.4(AMT):c.982dup (p.Ala328fs)
|
rs1553638266
|
|
NM_000481.4(AMT):c.987del (p.Met330fs)
|
rs1278265933
|
|
NM_000481.4(AMT):c.991C>T (p.Arg331Trp)
|
|
|
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)
|
rs1368099067
|
|