NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter)
|
rs768907730
|
0.00004
|
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter)
|
rs80338882
|
0.00001
|
NM_003227.4(TFR2):c.1409G>T (p.Ser470Ile)
|
rs772104483
|
0.00001
|
NM_003227.4(TFR2):c.1606-2A>G
|
rs750609759
|
0.00001
|
NM_003227.4(TFR2):c.1870C>T (p.Gln624Ter)
|
rs1220336558
|
0.00001
|
NC_000007.14:g.(?_100640676)_(100641519_?)del
|
|
|
NC_000007.14:g.(?_100640680)_(100641515_?)del
|
|
|
NM_003227.4(TFR2):c.1071_1075del (p.Gln357fs)
|
|
|
NM_003227.4(TFR2):c.1115_1116del (p.Lys372fs)
|
rs1803418157
|
|
NM_003227.4(TFR2):c.1132dup (p.Gln378fs)
|
|
|
NM_003227.4(TFR2):c.1163del (p.Pro388fs)
|
rs1422733588
|
|
NM_003227.4(TFR2):c.1179del (p.Pro395fs)
|
|
|
NM_003227.4(TFR2):c.124del (p.Glu42fs)
|
|
|
NM_003227.4(TFR2):c.1286dup (p.Gly430fs)
|
|
|
NM_003227.4(TFR2):c.1288G>A (p.Gly430Arg)
|
rs780902940
|
|
NM_003227.4(TFR2):c.1288G>C (p.Gly430Arg)
|
|
|
NM_003227.4(TFR2):c.1362_1363insT (p.Arg455fs)
|
|
|
NM_003227.4(TFR2):c.1398del (p.Arg468fs)
|
rs773050231
|
|
NM_003227.4(TFR2):c.1467G>A (p.Trp489Ter)
|
|
|
NM_003227.4(TFR2):c.1467_1468delinsAT (p.Trp489_Leu490delinsTer)
|
|
|
NM_003227.4(TFR2):c.1470del (p.Glu491fs)
|
|
|
NM_003227.4(TFR2):c.1629del (p.Gln544fs)
|
rs749211542
|
|
NM_003227.4(TFR2):c.1638_1639del (p.Leu546_Tyr547insTer)
|
rs1803309728
|
|
NM_003227.4(TFR2):c.1746del (p.Val583fs)
|
rs1562838535
|
|
NM_003227.4(TFR2):c.17del (p.Gly6fs)
|
|
|
NM_003227.4(TFR2):c.1811dup (p.Tyr604Ter)
|
rs1803297757
|
|
NM_003227.4(TFR2):c.1812T>G (p.Tyr604Ter)
|
|
|
NM_003227.4(TFR2):c.183_211del (p.Leu62fs)
|
|
|
NM_003227.4(TFR2):c.1841dup (p.Leu615fs)
|
|
|
NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1])
|
rs80338888
|
|
NM_003227.4(TFR2):c.18dup (p.Leu7fs)
|
|
|
NM_003227.4(TFR2):c.192del (p.Arg65fs)
|
|
|
NM_003227.4(TFR2):c.1938C>A (p.Tyr646Ter)
|
rs1324815806
|
|
NM_003227.4(TFR2):c.1938C>G (p.Tyr646Ter)
|
|
|
NM_003227.4(TFR2):c.1942del (p.Asp648fs)
|
|
|
NM_003227.4(TFR2):c.2183dup (p.Phe729fs)
|
rs1803096138
|
|
NM_003227.4(TFR2):c.2227_2228del (p.Ala743fs)
|
rs1463281712
|
|
NM_003227.4(TFR2):c.2236dup (p.Asp746fs)
|
rs777027788
|
|
NM_003227.4(TFR2):c.2281dup (p.Ala761fs)
|
|
|
NM_003227.4(TFR2):c.252C>A (p.Tyr84Ter)
|
|
|
NM_003227.4(TFR2):c.253del (p.Leu85fs)
|
rs1426704853
|
|
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter)
|
rs80338878
|
|
NM_003227.4(TFR2):c.318del (p.Ser107fs)
|
rs2131327564
|
|
NM_003227.4(TFR2):c.33+1del
|
rs1803699632
|
|
NM_003227.4(TFR2):c.34C>T (p.Gln12Ter)
|
rs2131328001
|
|
NM_003227.4(TFR2):c.401_402dup (p.Leu135fs)
|
rs1388444100
|
|
NM_003227.4(TFR2):c.405_406del (p.Tyr136fs)
|
rs868823304
|
|
NM_003227.4(TFR2):c.484del (p.Leu162fs)
|
rs2131320933
|
|
NM_003227.4(TFR2):c.523_524del (p.Leu175fs)
|
|
|
NM_003227.4(TFR2):c.529C>T (p.Gln177Ter)
|
|
|
NM_003227.4(TFR2):c.58C>T (p.Gln20Ter)
|
|
|
NM_003227.4(TFR2):c.63_66del (p.Val22fs)
|
|
|
NM_003227.4(TFR2):c.63del (p.Val22fs)
|
rs2131327975
|
|
NM_003227.4(TFR2):c.661G>T (p.Gly221Ter)
|
rs763292953
|
|
NM_003227.4(TFR2):c.689_690del (p.Asp230fs)
|
|
|
NM_003227.4(TFR2):c.73del (p.Arg25fs)
|
|
|
NM_003227.4(TFR2):c.745del (p.His249fs)
|
rs2131320223
|
|
NM_003227.4(TFR2):c.750del (p.His249_Tyr250insTer)
|
|
|
NM_003227.4(TFR2):c.753_756del (p.Arg252fs)
|
|
|
NM_003227.4(TFR2):c.829dup (p.Val277fs)
|
|
|
NM_003227.4(TFR2):c.862C>T (p.Gln288Ter)
|
rs1398396879
|
|
NM_003227.4(TFR2):c.867del (p.Phe290fs)
|
|
|
NM_003227.4(TFR2):c.88dup (p.Arg30fs)
|
rs80338877
|
|
NM_003227.4(TFR2):c.960T>G (p.Tyr320Ter)
|
rs1584459683
|
|
NM_003227.4(TFR2):c.990del (p.Tyr331fs)
|
|
|