NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln)
|
rs281864970
|
0.00003
|
NM_024312.5(GNPTAB):c.2715+2T>G
|
rs281865001
|
0.00002
|
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=)
|
rs281865025
|
0.00002
|
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)
|
rs281864969
|
0.00001
|
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)
|
rs281865026
|
0.00001
|
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)
|
rs281864980
|
0.00001
|
NM_024312.5(GNPTAB):c.2715+1G>A
|
rs281865031
|
0.00001
|
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)
|
rs137852897
|
0.00001
|
NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr)
|
rs281864947
|
0.00001
|
NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr)
|
rs281864973
|
|
NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala)
|
rs137852895
|
|
NM_024312.5(GNPTAB):c.1285-2A>G
|
rs281864974
|
|
NM_024312.5(GNPTAB):c.1325G>A (p.Cys442Tyr)
|
rs281864975
|
|
NM_024312.5(GNPTAB):c.1385dup (p.Asp462fs)
|
rs281864978
|
|
NM_024312.5(GNPTAB):c.168T>A (p.Tyr56Ter)
|
rs281864950
|
|
NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly)
|
rs142172397
|
|
NM_024312.5(GNPTAB):c.229GTT[1] (p.Val78del)
|
rs281864952
|
|
NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu)
|
rs281864953
|
|
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs)
|
rs281865029
|
|
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)
|
rs281864999
|
|
NM_024312.5(GNPTAB):c.2777A>C (p.Gln926Pro)
|
rs281865002
|
|
NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr)
|
rs281865004
|
|
NM_024312.5(GNPTAB):c.2867A>G (p.His956Arg)
|
rs281865005
|
|
NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs)
|
rs281865018
|
|
NM_024312.5(GNPTAB):c.3458A>G (p.Asn1153Ser)
|
rs281865019
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)
|
rs35333334
|
|
NM_024312.5(GNPTAB):c.517_518insA (p.Pro173fs)
|
rs281864957
|
|
NM_024312.5(GNPTAB):c.571+3A>C
|
rs281864960
|
|