NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
NM_004415.4(DSP):c.6310del (p.Thr2104fs)
|
rs730880092
|
0.00003
|
NM_004415.4(DSP):c.2436+2T>C
|
rs774514264
|
0.00001
|
NM_004415.4(DSP):c.5940dup (p.Tyr1981fs)
|
rs1561701721
|
0.00001
|
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
NM_004415.4(DSP):c.1063C>T (p.Gln355Ter)
|
rs1561686893
|
|
NM_004415.4(DSP):c.1138C>T (p.Gln380Ter)
|
|
|
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)
|
rs397516915
|
|
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter)
|
rs761380979
|
|
NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del)
|
rs193922668
|
|
NM_004415.4(DSP):c.1520C>T (p.Ser507Phe)
|
rs1240326550
|
|
NM_004415.4(DSP):c.171T>A (p.Cys57Ter)
|
rs1758487010
|
|
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
|
rs1581805658
|
|
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter)
|
rs1561690319
|
|
NM_004415.4(DSP):c.2130+1G>A
|
rs727505115
|
|
NM_004415.4(DSP):c.2131-3_2131del
|
|
|
NM_004415.4(DSP):c.2437-1G>C
|
rs1057517903
|
|
NM_004415.4(DSP):c.2907del (p.Ser970fs)
|
rs2113688929
|
|
NM_004415.4(DSP):c.2980dup (p.Gln994fs)
|
rs1581813564
|
|
NM_004415.4(DSP):c.3451G>T (p.Glu1151Ter)
|
|
|
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter)
|
rs1759359916
|
|
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)
|
rs1561698362
|
|
NM_004415.4(DSP):c.4332dup (p.Gln1445fs)
|
rs1561698714
|
|
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter)
|
rs28763965
|
|
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs)
|
rs2113694673
|
|
NM_004415.4(DSP):c.5320_5321del (p.Gln1774fs)
|
|
|
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)
|
rs774763657
|
|
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter)
|
rs2113698710
|
|
NM_004415.4(DSP):c.5792_5793insGAGTTAGATA (p.Glu1931_Arg1932insSerTer)
|
|
|
NM_004415.4(DSP):c.6370_6373del (p.Leu2124fs)
|
rs1759529582
|
|
NM_004415.4(DSP):c.6451dup (p.Arg2151fs)
|
rs1759533568
|
|
NM_004415.4(DSP):c.6463delinsCT (p.Asp2155fs)
|
rs1561702549
|
|
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter)
|
rs141026028
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
NM_004415.4(DSP):c.6537_6538del (p.Lys2180fs)
|
|
|
NM_004415.4(DSP):c.6936_6957del (p.Glu2313fs)
|
rs2113701305
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter)
|
rs2113701867
|
|
NM_004415.4(DSP):c.7438C>T (p.Gln2480Ter)
|
|
|
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs)
|
rs763560697
|
|
NM_004415.4(DSP):c.801_820dup (p.Asn274fs)
|
|
|
NM_004415.4(DSP):c.8029C>T (p.Gln2677Ter)
|
rs2113703930
|
|
NM_004415.4(DSP):c.8075del (p.Gln2692fs)
|
|
|
NM_004415.4(DSP):c.8082_8085del (p.Ala2694_Phe2695insTer)
|
|
|