NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
|
rs119455954
|
0.00005
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)
|
rs756564767
|
0.00004
|
NM_000391.4(TPP1):c.827A>T (p.Asp276Val)
|
rs763162812
|
0.00003
|
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)
|
rs121908200
|
0.00002
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00002
|
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg)
|
rs121908195
|
0.00002
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg)
|
rs119455953
|
0.00001
|
NM_000391.4(TPP1):c.1340G>A (p.Arg447His)
|
rs119455956
|
0.00001
|
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)
|
rs398122959
|
0.00001
|
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)
|
rs1184563885
|
0.00001
|
NM_000391.4(TPP1):c.1593dup (p.Glu532fs)
|
rs1216139602
|
0.00001
|
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)
|
rs121908195
|
0.00001
|
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys)
|
rs28940573
|
0.00001
|
NM_000391.4(TPP1):c.617G>A (p.Arg206His)
|
rs121908209
|
0.00001
|
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)
|
rs796053439
|
0.00001
|
NM_000391.4(TPP1):c.851G>T (p.Gly284Val)
|
rs119455957
|
0.00001
|
NM_000391.4(TPP1):c.887-10A>G
|
rs755445790
|
0.00001
|
NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)
|
|
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
|
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp)
|
rs886037833
|
|
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)
|
rs1554901784
|
|
NM_000391.4(TPP1):c.1075+2T>C
|
rs1855583482
|
|
NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter)
|
rs1564854729
|
|
NM_000391.4(TPP1):c.1146-199G>A
|
|
|
NM_000391.4(TPP1):c.1266_1266+1delinsTACAAACAAACA
|
|
|
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter)
|
rs2134598107
|
|
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)
|
rs786204753
|
|
NM_000391.4(TPP1):c.1450dup (p.Ile484fs)
|
|
|
NM_000391.4(TPP1):c.1496dup (p.Leu500fs)
|
rs756963463
|
|
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer)
|
rs763961289
|
|
NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)
|
rs1554901472
|
|
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter)
|
rs2134590423
|
|
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs)
|
rs759664259
|
|
NM_000391.4(TPP1):c.182_184delinsC (p.Leu61fs)
|
|
|
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)
|
rs1554902216
|
|
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)
|
rs759080581
|
|
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter)
|
rs1564855860
|
|
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)
|
rs202189057
|
|
NM_000391.4(TPP1):c.357dup (p.Leu120fs)
|
rs1554902085
|
|
NM_000391.4(TPP1):c.380+5G>A
|
rs1564855725
|
|
NM_000391.4(TPP1):c.509-1G>A
|
rs56144125
|
|
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter)
|
rs752164603
|
|
NM_000391.4(TPP1):c.687+1G>C
|
rs1465284719
|
|
NM_000391.4(TPP1):c.688-1G>T
|
rs1855593862
|
|
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter)
|
rs1405952769
|
|
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)
|
rs119455958
|
|
NM_000391.4(TPP1):c.89+1G>A
|
rs1855631590
|
|
NM_000391.4(TPP1):c.899del (p.Gly300fs)
|
rs2134593910
|
|
NM_000391.4(TPP1):c.972_979del (p.Ser324fs)
|
rs778232650
|
|
NM_000391.4(TPP1):c.987_989del (p.Glu329del)
|
rs1222920812
|
|