NM_000481.4(AMT):c.-1G>A
|
rs143841175
|
0.00328
|
NM_032316.3(NICN1):c.*2307G>C
|
rs544461335
|
0.00097
|
NM_032316.3(NICN1):c.*2247T>C
|
rs750502117
|
0.00021
|
NM_032316.3(NICN1):c.*2177G>A
|
rs573551723
|
0.00009
|
NM_000481.4(AMT):c.13G>T (p.Val5Leu)
|
rs764032357
|
0.00006
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
NM_000481.4(AMT):c.43C>T (p.Leu15=)
|
rs775112005
|
0.00002
|
NM_000481.4(AMT):c.78T>C (p.Leu26=)
|
rs764624214
|
0.00002
|
NM_032316.3(NICN1):c.*2157G>A
|
rs1244431682
|
0.00002
|
NM_000481.4(AMT):c.22G>A (p.Val8Met)
|
rs759853191
|
0.00001
|
NM_000481.4(AMT):c.29G>A (p.Arg10His)
|
rs150649086
|
0.00001
|
NM_000481.4(AMT):c.46C>T (p.Gln16Ter)
|
rs2049124862
|
0.00001
|
NM_000481.4(AMT):c.52T>C (p.Phe18Leu)
|
rs778523705
|
0.00001
|
NM_000481.4(AMT):c.54C>T (p.Phe18=)
|
rs914716059
|
0.00001
|
NM_000481.4(AMT):c.59C>T (p.Pro20Leu)
|
rs749087037
|
0.00001
|
NM_000481.4(AMT):c.60G>A (p.Pro20=)
|
rs374750709
|
0.00001
|
NM_000481.4(AMT):c.84C>T (p.Cys28=)
|
rs763223038
|
0.00001
|
NM_032316.3(NICN1):c.*2317A>G
|
rs1553638927
|
0.00001
|
NM_032316.3(NICN1):c.*2325C>T
|
rs753743263
|
0.00001
|
NC_000003.11:g.(?_49456384)_(49459947_?)dup
|
|
|
NC_000003.12:g.(?_49421482)_(49424348_?)del
|
|
|
NM_000481.4(AMT):c.10G>C (p.Ala4Pro)
|
rs753829515
|
|
NM_000481.4(AMT):c.10del (p.Ala4fs)
|
|
|
NM_000481.4(AMT):c.12T>A (p.Ala4=)
|
|
|
NM_000481.4(AMT):c.13G>A (p.Val5Ile)
|
|
|
NM_000481.4(AMT):c.13G>C (p.Val5Leu)
|
|
|
NM_000481.4(AMT):c.14dup (p.Ser6fs)
|
rs773988915
|
|
NM_000481.4(AMT):c.15_18del (p.Ser6fs)
|
rs1553638904
|
|
NM_000481.4(AMT):c.16del (p.Ser6fs)
|
rs1553638907
|
|
NM_000481.4(AMT):c.18T>C (p.Ser6=)
|
|
|
NM_000481.4(AMT):c.20_21del (p.Val7fs)
|
rs1575309867
|
|
NM_000481.4(AMT):c.21G>C (p.Val7=)
|
|
|
NM_000481.4(AMT):c.28C>G (p.Arg10Gly)
|
|
|
NM_000481.4(AMT):c.29G>C (p.Arg10Pro)
|
|
|
NM_000481.4(AMT):c.2T>A (p.Met1Lys)
|
rs1266259634
|
|
NM_000481.4(AMT):c.2T>C (p.Met1Thr)
|
rs1266259634
|
|
NM_000481.4(AMT):c.35G>A (p.Gly12Asp)
|
|
|
NM_000481.4(AMT):c.3G>A (p.Met1Ile)
|
rs2107938475
|
|
NM_000481.4(AMT):c.40C>T (p.Arg14Cys)
|
|
|
NM_000481.4(AMT):c.41G>A (p.Arg14His)
|
|
|
NM_000481.4(AMT):c.42C>T (p.Arg14=)
|
rs2107938326
|
|
NM_000481.4(AMT):c.57C>T (p.Pro19=)
|
rs770512923
|
|
NM_000481.4(AMT):c.57_59dup (p.Pro20dup)
|
rs386833686
|
|
NM_000481.4(AMT):c.59del (p.Pro20fs)
|
rs386833686
|
|
NM_000481.4(AMT):c.59dup (p.Ala21fs)
|
rs386833686
|
|
NM_000481.4(AMT):c.61del (p.Ala21fs)
|
rs386833687
|
|
NM_000481.4(AMT):c.62C>T (p.Ala21Val)
|
|
|
NM_000481.4(AMT):c.63del (p.Leu22fs)
|
rs386833688
|
|
NM_000481.4(AMT):c.66G>A (p.Leu22=)
|
rs2107938211
|
|
NM_000481.4(AMT):c.67T>C (p.Cys23Arg)
|
|
|
NM_000481.4(AMT):c.6G>A (p.Gln2=)
|
|
|
NM_000481.4(AMT):c.70C>G (p.Arg24Gly)
|
|
|
NM_000481.4(AMT):c.70C>T (p.Arg24Cys)
|
rs371656220
|
|
NM_000481.4(AMT):c.73C>T (p.Pro25Ser)
|
rs751869343
|
|
NM_000481.4(AMT):c.74del (p.Pro25fs)
|
|
|
NM_000481.4(AMT):c.75A>G (p.Pro25=)
|
|
|
NM_000481.4(AMT):c.77T>A (p.Leu26His)
|
|
|
NM_000481.4(AMT):c.81T>C (p.Ser27=)
|
rs2107938151
|
|
NM_000481.4(AMT):c.86C>T (p.Ala29Val)
|
rs2049122995
|
|
NM_000481.4(AMT):c.87A>G (p.Ala29=)
|
|
|
NM_000481.4(AMT):c.90+10A>G
|
|
|
NM_000481.4(AMT):c.90+10A>T
|
rs1415657857
|
|
NM_000481.4(AMT):c.90+12G>A
|
|
|
NM_000481.4(AMT):c.90+13G>A
|
|
|
NM_000481.4(AMT):c.90+1G>T
|
|
|
NM_000481.4(AMT):c.90+20T>C
|
|
|
NM_000481.4(AMT):c.90+4G>A
|
rs2107938113
|
|
NM_000481.4(AMT):c.90+5G>C
|
|
|
NM_000481.4(AMT):c.90+9G>C
|
rs1447827681
|
|
NM_032316.3(NICN1):c.*2266dup
|
rs886058684
|
|
NM_032316.3(NICN1):c.*2283C>G
|
rs192377809
|
|
NM_032316.3(NICN1):c.*2283C>T
|
rs192377809
|
|
NM_032316.3(NICN1):c.*2359_*2468del
|
rs2049123051
|
|
NM_032316.3(NICN1):c.*634G>C
|
rs1416250958
|
|