NM_033109.5(PNPT1):c.1390C>A (p.Arg464=)
|
rs2627765
|
0.48848
|
NM_033109.5(PNPT1):c.1074-19A>G
|
rs782637
|
0.45197
|
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val)
|
rs782572
|
0.44915
|
NM_033109.5(PNPT1):c.1738+9G>C
|
rs7584120
|
0.18938
|
NM_033109.5(PNPT1):c.1768A>G (p.Asn590Asp)
|
rs7594497
|
0.14820
|
NM_033109.5(PNPT1):c.1074-15C>T
|
rs76693423
|
0.03200
|
NM_033109.5(PNPT1):c.2070-5T>C
|
rs145739483
|
0.00699
|
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=)
|
rs146111948
|
0.00507
|
NM_033109.5(PNPT1):c.944A>G (p.Lys315Arg)
|
rs35405862
|
0.00492
|
NM_033109.5(PNPT1):c.906C>T (p.Tyr302=)
|
rs149239772
|
0.00318
|
NM_033109.5(PNPT1):c.566-6T>C
|
rs190658831
|
0.00311
|
NM_033109.5(PNPT1):c.1074-4A>T
|
rs146742085
|
0.00287
|
NM_033109.5(PNPT1):c.852G>C (p.Val284=)
|
rs139091915
|
0.00259
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_033109.5(PNPT1):c.1632C>T (p.Asp544=)
|
rs146554440
|
0.00083
|
NM_033109.5(PNPT1):c.1938G>A (p.Thr646=)
|
rs201681772
|
0.00078
|
NM_033109.5(PNPT1):c.2149-18T>A
|
rs142979302
|
0.00042
|
NM_033109.5(PNPT1):c.1248-16T>C
|
rs374813287
|
0.00041
|
NM_033109.5(PNPT1):c.2149-11T>G
|
rs138300494
|
0.00036
|
NM_033109.5(PNPT1):c.2149-19T>C
|
rs370060385
|
0.00009
|
NM_033109.5(PNPT1):c.516C>T (p.Gly172=)
|
rs372627112
|
0.00009
|
NM_033109.5(PNPT1):c.2014-19G>C
|
rs745401550
|
0.00003
|
NM_033109.5(PNPT1):c.1074-12A>G
|
rs374508862
|
0.00002
|
NM_033109.5(PNPT1):c.1284+10A>C
|
rs780025637
|
0.00002
|
NM_033109.5(PNPT1):c.1442-4A>G
|
rs1027454741
|
0.00002
|
NM_033109.5(PNPT1):c.251C>T (p.Ala84Val)
|
rs145552327
|
0.00002
|
NM_033109.5(PNPT1):c.680-10C>T
|
rs1553499878
|
0.00002
|
NM_033109.5(PNPT1):c.423C>T (p.Leu141=)
|
rs777911727
|
0.00001
|
NM_033109.5(PNPT1):c.977-4A>G
|
rs778656630
|
0.00001
|
NM_033109.4(PNPT1):c.-48G>A
|
rs747523552
|
|
NM_033109.5(PNPT1):c.*11dup
|
rs35916020
|
|
NM_033109.5(PNPT1):c.1068C>G (p.Tyr356Ter)
|
rs879255427
|
|
NM_033109.5(PNPT1):c.1176+7T>C
|
rs1057522265
|
|
NM_033109.5(PNPT1):c.1674+20del
|
rs149526231
|
|
NM_033109.5(PNPT1):c.1906+10delinsCAT
|
rs1064795243
|
|
NM_033109.5(PNPT1):c.2070-16A>C
|
rs768971285
|
|
NM_033109.5(PNPT1):c.2148+8G>C
|
|
|
NM_033109.5(PNPT1):c.2149-13dup
|
rs532500568
|
|
NM_033109.5(PNPT1):c.223-13C>G
|
rs200156764
|
|
NM_033109.5(PNPT1):c.404-10C>A
|
rs1057522292
|
|
NM_033109.5(PNPT1):c.404-5G>T
|
rs1156874425
|
|
NM_033109.5(PNPT1):c.429A>G (p.Pro143=)
|
rs758544175
|
|
NM_033109.5(PNPT1):c.454-18dup
|
rs1064794498
|
|
NM_033109.5(PNPT1):c.861T>A (p.Thr287=)
|
rs150220872
|
|