NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs)
|
rs386833988
|
0.00007
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
NM_000027.4(AGA):c.439T>C (p.Ser147Pro)
|
rs386833428
|
0.00003
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
NM_000027.4(AGA):c.503G>A (p.Trp168Ter)
|
rs386833430
|
0.00002
|
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=)
|
rs386833990
|
0.00002
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
NM_000027.4(AGA):c.395-8A>G
|
rs386833426
|
0.00001
|
NM_000027.4(AGA):c.404T>C (p.Phe135Ser)
|
rs386833427
|
0.00001
|
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)
|
rs386833434
|
0.00001
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
NM_000027.4(AGA):c.940+1G>T
|
rs386833437
|
0.00001
|
NM_002299.4(LCT):c.4087G>A (p.Gly1363Ser)
|
rs386833833
|
0.00001
|
NM_012434.5(SLC17A5):c.1007_1008del (p.Leu336fs)
|
rs386833987
|
0.00001
|
NM_012434.5(SLC17A5):c.95-1G>C
|
rs386833995
|
0.00001
|
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer)
|
rs386833417
|
|
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala42_Ala43insAspAla)
|
rs386833418
|
|
NM_000027.4(AGA):c.192T>A (p.Cys64Ter)
|
rs386833419
|
|
NM_000027.4(AGA):c.200_201del (p.Glu67fs)
|
rs386833420
|
|
NM_000027.4(AGA):c.299G>A (p.Gly100Glu)
|
rs386833421
|
|
NM_000027.4(AGA):c.336del (p.Ile112fs)
|
rs386833422
|
|
NM_000027.4(AGA):c.346C>T (p.Arg116Trp)
|
rs386833423
|
|
NM_000027.4(AGA):c.369_373del (p.His124fs)
|
rs386833424
|
|
NM_000027.4(AGA):c.373_376del (p.Thr125fs)
|
rs386833425
|
|
NM_000027.4(AGA):c.44T>G (p.Leu15Arg)
|
rs386833429
|
|
NM_000027.4(AGA):c.754G>C (p.Gly252Arg)
|
rs386833432
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer)
|
rs386833435
|
|
NM_002299.4(LCT):c.1692_1696del (p.Val565fs)
|
rs386833832
|
|
NM_002299.4(LCT):c.4419C>G (p.Tyr1473Ter)
|
rs386833834
|
|
NM_002299.4(LCT):c.4834G>T (p.Glu1612Ter)
|
rs386833835
|
|
NM_002299.4(LCT):c.4998_5001del (p.Ser1666fs)
|
rs386833836
|
|
NM_002299.4(LCT):c.5387del (p.Asp1796fs)
|
rs386833837
|
|
NM_002299.4(LCT):c.653_654del (p.Ser218fs)
|
rs386833838
|
|
NM_012434.5(SLC17A5):c.1226G>A (p.Gly409Glu)
|
rs386833989
|
|
NM_012434.5(SLC17A5):c.309G>A (p.Trp103Ter)
|
rs386833991
|
|
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del)
|
rs386833994
|
|
NM_012434.5(SLC17A5):c.983G>A (p.Gly328Glu)
|
rs386833996
|
|