NM_024312.5(GNPTAB):c.3335+6T>G
|
rs34788341
|
0.00005
|
NM_024312.5(GNPTAB):c.3335+1G>A
|
rs34940801
|
0.00003
|
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter)
|
rs35878526
|
0.00003
|
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=)
|
rs281865025
|
0.00002
|
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)
|
rs34159654
|
0.00001
|
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)
|
rs281865026
|
0.00001
|
NM_024312.5(GNPTAB):c.2715+1G>A
|
rs281865031
|
0.00001
|
NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter)
|
rs137852896
|
0.00001
|
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)
|
rs137852897
|
0.00001
|
NM_024312.4(GNPTAB):c.118-?_203+?dup86
|
|
|
NM_024312.4(GNPTAB):c.1738TATA[3] (p.Ser581Ilefs)
|
rs34924076
|
|
NM_024312.4(GNPTAB):c.555_556ins296 (p.?)
|
|
|
NM_024312.4(GNPTAB):c.[2783A>G;2864C>T]]
|
|
|
NM_024312.4(GNPTAB):c.[3388_3389insC;3392C>T]
|
|
|
NM_024312.4(GNPTAB):c.[545T>A;614A>C]
|
|
|
NM_024312.4:c.750+3A>C
|
|
|
NM_024312.5(GNPTAB):c.118-2A>G
|
rs281865023
|
|
NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala)
|
rs137852895
|
|
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs)
|
rs36007394
|
|
NM_024312.5(GNPTAB):c.1625_1626insC (p.Glu542fs)
|
rs281865027
|
|
NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly)
|
rs142172397
|
|
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)
|
rs34901902
|
|
NM_024312.5(GNPTAB):c.2188delinsAAA (p.Leu730fs)
|
rs34161232
|
|
NM_024312.5(GNPTAB):c.2533C>T (p.Gln845Ter)
|
rs281865028
|
|
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs)
|
rs281865029
|
|
NM_024312.5(GNPTAB):c.2659dup (p.Ser887fs)
|
rs281865030
|
|
NM_024312.5(GNPTAB):c.2918dup (p.Pro974_Glu975insTer)
|
rs281865032
|
|
NM_024312.5(GNPTAB):c.3145_3146insC (p.Gly1049fs)
|
rs281865033
|
|
NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter)
|
rs137852898
|
|
NM_024312.5(GNPTAB):c.3231_3234dup (p.Tyr1079fs)
|
rs34256381
|
|
NM_024312.5(GNPTAB):c.3249+1G>A
|
rs281865012
|
|
NM_024312.5(GNPTAB):c.3252del (p.Pro1085fs)
|
rs281865035
|
|
NM_024312.5(GNPTAB):c.3434+1G>A
|
rs281865036
|
|
NM_024312.5(GNPTAB):c.3435-1G>A
|
rs281865037
|
|
NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs)
|
rs281865038
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024312.5(GNPTAB):c.3569dup (p.Asn1190fs)
|
rs281865039
|
|
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)
|
rs35333334
|
|
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val)
|
rs34946266
|
|
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs)
|
rs281865024
|
|
NM_024312.5(GNPTAB):c.850del (p.Thr284fs)
|
rs34517004
|
|