|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
|
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)
|
rs79746977
|
0.00009
|
|
NM_024753.5(TTC21B):c.2913dup (p.Val972fs)
|
rs867205119
|
0.00005
|
|
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter)
|
rs771232897
|
0.00004
|
|
NM_024753.5(TTC21B):c.2209G>T (p.Glu737Ter)
|
rs748663904
|
0.00004
|
|
NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter)
|
rs185089786
|
0.00003
|
|
NM_024753.5(TTC21B):c.2758-2A>G
|
rs766132877
|
0.00003
|
|
NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter)
|
rs369159801
|
0.00002
|
|
NM_024753.5(TTC21B):c.2482dup (p.Met828fs)
|
rs906032090
|
0.00002
|
|
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)
|
rs1183062277
|
0.00001
|
|
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)
|
rs779134983
|
0.00001
|
|
NM_024753.5(TTC21B):c.2818C>T (p.Gln940Ter)
|
rs1489728717
|
0.00001
|
|
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter)
|
rs777162250
|
0.00001
|
|
NC_000002.11:g.(?_165946660)_(167168266_?)del
|
|
|
|
NC_000002.11:g.(?_166744769)_(166747518_?)del
|
|
|
|
NC_000002.12:g.165943342del
|
|
|
|
NM_024753.5(TTC21B):c.1001del (p.Met334fs)
|
|
|
|
NM_024753.5(TTC21B):c.1007_1025del (p.Leu336fs)
|
rs2105344608
|
|
|
NM_024753.5(TTC21B):c.1087G>T (p.Gly363Ter)
|
|
|
|
NM_024753.5(TTC21B):c.1088-1G>A
|
|
|
|
NM_024753.5(TTC21B):c.10C>T (p.Gln4Ter)
|
|
|
|
NM_024753.5(TTC21B):c.1126_1127insGT (p.Asp376fs)
|
|
|
|
NM_024753.5(TTC21B):c.1138C>T (p.Gln380Ter)
|
rs749794837
|
|
|
NM_024753.5(TTC21B):c.1162C>T (p.Gln388Ter)
|
|
|
|
NM_024753.5(TTC21B):c.1263_1266dup (p.Leu423fs)
|
rs2105343139
|
|
|
NM_024753.5(TTC21B):c.1320del (p.Phe440fs)
|
rs775836730
|
|
|
NM_024753.5(TTC21B):c.1346T>G (p.Leu449Ter)
|
rs769816345
|
|
|
NM_024753.5(TTC21B):c.140del (p.Thr47fs)
|
|
|
|
NM_024753.5(TTC21B):c.1448_1458del (p.Thr483fs)
|
|
|
|
NM_024753.5(TTC21B):c.1479_1482del (p.Thr494fs)
|
|
|
|
NM_024753.5(TTC21B):c.1575T>G (p.Tyr525Ter)
|
rs199559023
|
|
|
NM_024753.5(TTC21B):c.1725_1726del (p.Lys575fs)
|
|
|
|
NM_024753.5(TTC21B):c.1840del (p.Ser614fs)
|
|
|
|
NM_024753.5(TTC21B):c.1860_1863del (p.Phe620fs)
|
|
|
|
NM_024753.5(TTC21B):c.1942dup (p.Ser648fs)
|
rs2105324384
|
|
|
NM_024753.5(TTC21B):c.1947_1948del (p.Thr650fs)
|
|
|
|
NM_024753.5(TTC21B):c.2070del (p.Arg691fs)
|
|
|
|
NM_024753.5(TTC21B):c.2297_2298del (p.Leu766fs)
|
|
|
|
NM_024753.5(TTC21B):c.2337T>G (p.Tyr779Ter)
|
rs1559053862
|
|
|
NM_024753.5(TTC21B):c.244_248del (p.Lys82fs)
|
|
|
|
NM_024753.5(TTC21B):c.2455G>T (p.Glu819Ter)
|
|
|
|
NM_024753.5(TTC21B):c.2521del (p.Tyr841fs)
|
|
|
|
NM_024753.5(TTC21B):c.2572C>T (p.Arg858Ter)
|
rs895624584
|
|
|
NM_024753.5(TTC21B):c.2614C>T (p.Gln872Ter)
|
|
|
|
NM_024753.5(TTC21B):c.2635C>T (p.Gln879Ter)
|
|
|
|
NM_024753.5(TTC21B):c.264_267dupTAGA
|
rs748514860
|
|
|
NM_024753.5(TTC21B):c.2692C>T (p.Arg898Ter)
|
rs1685569880
|
|
|
NM_024753.5(TTC21B):c.2979_2982del (p.Asp994fs)
|
|
|
|
NM_024753.5(TTC21B):c.3044del (p.Arg1015fs)
|
rs2105292027
|
|
|
NM_024753.5(TTC21B):c.3045del (p.Asn1016fs)
|
rs2105292022
|
|
|
NM_024753.5(TTC21B):c.3076C>T (p.Gln1026Ter)
|
rs2105291990
|
|
|
NM_024753.5(TTC21B):c.3112G>T (p.Glu1038Ter)
|
rs2105291727
|
|
|
NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter)
|
|
|
|
NM_024753.5(TTC21B):c.3144del (p.Ala1049fs)
|
rs2105291679
|
|
|
NM_024753.5(TTC21B):c.3164G>A (p.Trp1055Ter)
|
rs772612775
|
|
|
NM_024753.5(TTC21B):c.3380dup (p.Asn1127fs)
|
|
|
|
NM_024753.5(TTC21B):c.3383_3384del (p.Tyr1128fs)
|
rs1553506530
|
|
|
NM_024753.5(TTC21B):c.3533dup (p.Asn1178fs)
|
|
|
|
NM_024753.5(TTC21B):c.3592_3596del (p.Lys1198fs)
|
|
|
|
NM_024753.5(TTC21B):c.3641_3657del (p.Asp1214fs)
|
|
|
|
NM_024753.5(TTC21B):c.36C>G (p.Tyr12Ter)
|
|
|
|
NM_024753.5(TTC21B):c.3702T>G (p.Tyr1234Ter)
|
|
|
|
NM_024753.5(TTC21B):c.3731_3732del (p.Glu1244fs)
|
|
|
|
NM_024753.5(TTC21B):c.433del (p.His145fs)
|
|
|
|
NM_024753.5(TTC21B):c.459del (p.Thr154fs)
|
|
|
|
NM_024753.5(TTC21B):c.913del (p.Ile305fs)
|
|
|
|
NM_024753.5(TTC21B):c.996C>A (p.Tyr332Ter)
|
|
|