DNA | Type |
c. 238G>A | missense |
c. 3301C>T | Missense |
c. 353delG | PTC |
c. 3602G>A | missense |
c. 4018C>T | nonsense |
c. 4027C>T | Nonsense |
c. 409C>T | nonsense |
c. 4888C>T | nonsense |
c. 4894C>T | nonsense |
c. 5047C>T | nonsense |
c. 5287C>T | nonsense |
c. 5314C>T | missense |
c. 553C>T | nonsense |
c. 5870G>A | missense |
c. 5932C>T | nonsense |
c. 6022C>T | missense |
c. 6022C>G | missense |
c. 6180G>A | missense |
c. 6187C>G | missense |
c. 6187C>T | missense |
c. 6205G>A | missense |
c. 6781C>T | nonsense |
c. 6889G>T | missense |
c. 8102G>A | Missense |
c. 7012C>T | nonsense |
c. 706C>T | nonsense |
c. 7272C>T | nonsense |
c. 7411C>T | nonsense |
c. 751C>T | nonsense |
c. 7828C>T | nonsense |
c. 7865G>A | missense |
c. 7864C>T | missense |
c. 8053C>T | nonsense |
c. 8233C>T | nonsense |
c. 8371C>T | missense |
c. 8440C>T | nonsense |
c. 1264dupC | Framshift/PTC |
c. 1573C>T | Nonsense |
c. 1732C>T | Nonsense |
c. 1873C>T | PTC |
c. 2005C>T | Nonsense |
c. 2044C>T | PTC |
c. 2729G>A | Missense |
c. 344dupG | PTC |
c. 4767delA | PTC |
c. 7547_7551dupA | PTC |
c. 120G>A | Missense |
c. 1911T>C | Missense |
c. 6527dupC | PTC |
c. 4588C>T | nonsense |
c. 479dupA | PTC |
c. 565C>T | Nonsense |
c. 5771A>G | Missense |
c. 6215A>G | Missense |
c. 6508C>T | nonsense |
c. 7249C>T | Nonsense |
c. 793C>T | nonsense |
c. 841C>T | Nonsense |
c. 8479C>T | Nonsense |
c. 1921C>T | Nonsense |
c. 7371insA | Missense |
c. 3631C>T | nonsense |
c. 4602G>T | Missense |
c. 6100G>A | Missense |
c. 6103delG | PTC |
c. 8569G>T | Nonsense |
c. 4012G>A | Missense |
c. 4172_4173insC | PTC |
c. 4198delG | PTC |
c. 4448G>A | Missense |
c. 4520G>T | Missense |
c. 448G>A | Missense |
c. 4546G>A | Missense |
c. 4565G>A | Missense |
c. 4669G>A | missense |
c. 4573G>A | missense |
c. 4714G>A | Missense |
c. 4783G>C | Missense |
c. 4864G>C | Missense |
c. 4864G>C | missense |
c. 5572delG | Missense |
c. 5155G>C | Missense |
c. 5291G>A | Missense |
c. 5300G>A | Missense |
c. 5659G>A | missense |
c. 5720G>A | Missense |
c. 6016G>A | Missense |
c. 6025G>A | missense |
c. 6082G>A | Missense |
c. 6081insC | PTC |
c. 6091G>A | Missense |
c. 6101G>C | Missense |
c. 6110G>A | Missense |
c. 6119G>T | Missense |
c. 6118G>A | Missense |
c. 6127G>A | Missense |
c. 6128G>A | Missense |
c. 6137G>T | Missense |
c. 6146G>A | Missense |
c. 6044G>A | Missense |
c. 6163G>A | Missense |
c. 6164G>A | Missense |
c. 6182G>T | Missense |
c. 6190G>A | Missense |
c. 6191G>A | Missense |
c. 6209G>A | Missense |
c. 6217G>A | missense |
c. 6218G>A | Missense |
c. 6227 G>A | Missense |
c. 6235 G>A | Missense |
c. 6236 G>A | Missense |
c. 6358G>A | missense |
c. 6395 G>A | Missense |
c. 6574 G>A | Missense |
c. 6601G>A | missense |
c. 6619G>C | Missense |
c. 6638delG | PTC |
c. 6646G>T | nonsense |
c. 6716G>A | Missense |
c. 6724G>A | Missense |
c. 6725G>A | Missense |
c. 6752G>A | Missense |
c. 6788G>A | Missense |
c. 6788G>A | Missense |
c. 6859G>A | Missense |
c. 7042G>C | Missense |
c. 7051G>A | Missense |
c. 7957G>A | Missense |
c. 7097G>C | Missense |
c. 7096G>T | Missense |
c. 7097G>T | Missense |
c. 7237G>A | Missense |
c. 7289dupC | PTC |
c. 7442G>A | missense |
c. 7512_7513insA | PTC |
c. 7723G>A | Missense |
c. 7768G>C | Missense |
c. 7769G>A | Missense |
c. 7805G>A | Missense |
c. 8013G>T | Missense |
c. 8020G>C | Missense |
c. 8021G>A | Missense |
c. 8038G>A | Missense |
c. 8083G>A | Missense |
c. 8137G>A | Missense |
c. 8165G>A | Missense |
c. 8219G>C | Missense |
c. 8227G>A | Missense |
c. 8245G>A | Missense |
c. 8278G>A | Missense |
c. 8279G>A | missense |
c. 8323G>A | Missense |
c. 925_944dup | PTC |
c. 4274T>C | missense |
c. 5124G>A | sysnomous |
c. 611T>G | Missense |
c. 6238C>T | missense |
c. 191T>C | missense |
c. 2226insT | Framshift/PTC |
c. 425A>G | Missense |
c. 5856G>A | Missense |
c. 8393T>A | Missense |
c. 2449 A>G | Missense |
c. 2471dupG | Framshift/PTC |
c. 3386delC | PTC |
c. 4997dupG | PTC |
c. 4011G>A | Missense |
c. 4228C>T | Missense |
c. 4295insC | PTC |
c. 5662insG | PTC |
c. 5820G>A | synonymous |
c. 5819C>T | missense |
c. 8133C>T | Missense |
c. 7313C>T | Missense |
c. 1370C>T | Missense |
c. 7313C>G | Missense |
c. 6818G>A | missense |
c. 356_357delCA | PTC |
c. 2387G>A | Nonsense |
c. 2699G>A | Nonsense |
c. 2927G>A | Nonsense |
c. 6501G>A | nonsense |
c. 5131insCTCAC | nonsense |
c. 933C>T | synonymous |
c. 3474del | Nonsense |
c. 4879G>A | missense |
c. 497dupA | PTC |
c. 642dup | PTC |
c. 7344G>A | synonymous |
c. 6181C>G | missense |
c. 1358-1G>A | Splice |
c. 1452_1453del | Frameshift |
c. 1474del8 | Frameshift/PTC |
c. 1507+1G>C | Splice |
c. 1615_1665del51 | Frameshift/PTC |
c. 1633C>T | PTC |
c. 1842-2A>C | Splice |
c. 2710+1G>A | Splice |
c. 2858_2859del | Framshift |
c. 3277-1G>C | Splice |
c. 3551-3T>G | splice |
c. 3625_3635del | PTC |
c. 3832-1G>A | splice |
c. 3839delC | PTC |
c. 3G>A | nonsense |
c. 4048-1G>A | splice |
c. 4119+1G>T | splice |
c. 4249delA | PTC |
c. 426+1G>A | splice |
c. 434insGCAT | PTC |
c. 4518+2delT | PTC |
c. 4818+18A>T | splice |
c. 5097+1G>C | splice |
c. 5236-23A>G | PTC |
c. 5261insC | insertions |
c. 5265G>A | Missense |
c. 5281-2A>G | splice |
c. 5532+5G>A | splice |
c. 5604+2G>C | splice |
c. 5818delC | PTC |
c. 5888G>A | |
c. 5924_5927del | PTC |
c. 5982-2A>G | splice |
c. 6017_6019del | PTC |
c. 6075delC | PTC |
c. 6268_6269del | PTC |
c. 6329dup | PTC |
c. 6339delG | PTC |
c. 6341delG | PTC |
c. 6501+1G>C | splice |
c. 6573+1G>C | splice |
c. 6573+1G>T | splice |
c. 6619-2A>C | splice |
c. 6751-1G>A | splice |
c. 682+1G>A | splice |
c. 6831+3A>G | splice |
c. 6900+1delG | PTC |
c. 6900G>A | missense |
c. 7759-19del15ins4 | insertion/deletion |
c. 7786delG | PTC |
c. 7795-1G>A | splice |
c. 7876_7902del | PTC |
c. 7930-1G>C | splice |
c. 8046+1G>T | splice |
c. 8069del17incG>A | insertion/deletion |
c. 8109+2T>A | splice |
c. 8244insC | splice |
c. 8358+1G>C | splice |
c. 847-1G>T | splice |
c. 976+1G>A | splice |
c. IVS21-2A>G | splice |
c. IVS39+5G>C | splice |
c. IVS41-1G>C | splice |
c. 4824_4831del | PTC |
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