6438178 |
c.416A>T |
p.D139V |
Chr.13:
48345115-48345115
on Build GRCh38
|
3936342 |
c.452T>C |
p.L151P |
Chr.13:
48345151-48345151
on Build GRCh38
|
13413 |
c.473T>A |
p.L158* |
Chr.13:
48345172-48345172
on Build GRCh38
|
7091266 |
c.427_428delAA |
p.K143fs*2 |
Chr.13:
48345126-48345127
on Build GRCh38
|
6942233 |
c.488G>A |
p.S163N |
Chr.13:
48345187-48345187
on Build GRCh38
|
6910011 |
c.468delT |
p.D156fs*19 |
Chr.13:
48345167-48345167
on Build GRCh38
|
4990377 |
c.411A>T |
p.E137D |
Chr.13:
48345110-48345110
on Build GRCh38
|
862 |
c.413T>G |
p.I138S |
Chr.13:
48345112-48345112
on Build GRCh38
|
303840 |
c.441_442insC |
p.M148fs*9 |
Chr.13:
48345140-48345141
on Build GRCh38
|
860 |
c.473T>C |
p.L158S |
Chr.13:
48345172-48345172
on Build GRCh38
|
6947779 |
c.443_444delTG |
p.M148fs*8 |
Chr.13:
48345142-48345143
on Build GRCh38
|
18651 |
c.265_607del343 |
p.? |
Chr.13:
48342599-48349023
on Build GRCh38
|
4047918 |
c.400T>G |
p.L134V |
Chr.13:
48345099-48345099
on Build GRCh38
|
937 |
c.401_404delTACT |
p.L134fs*1 |
Chr.13:
48345100-48345103
on Build GRCh38
|
19551 |
c.265_2787del2523 |
p.? |
Chr.13:
48342599-48480071
on Build GRCh38
|
6914501 |
c.446C>A |
p.S149* |
Chr.13:
48345145-48345145
on Build GRCh38
|
947785 |
c.440C>T |
p.A147V |
Chr.13:
48345139-48345139
on Build GRCh38
|
6938721 |
c.427_466del40 |
p.K143fs*19 |
Chr.13:
48345126-48345165
on Build GRCh38
|
6945768 |
c.487_500+2del16 |
p.? |
Chr.13:
48345186-48345201
on Build GRCh38
|
6906889 |
c.441_442delTA |
p.M148fs*8 |
Chr.13:
48345140-48345141
on Build GRCh38
|
6531766 |
c.466G>C |
p.D156H |
Chr.13:
48345165-48345165
on Build GRCh38
|
7346553 |
c.496G>A |
p.E166K |
Chr.13:
48345195-48345195
on Build GRCh38
|
5731128 |
c.467delA |
p.D156fs*19 |
Chr.13:
48345166-48345166
on Build GRCh38
|
5660463 |
c.408A>G |
p.K136K |
Chr.13:
48345107-48345107
on Build GRCh38
|
6503564 |
c.481C>T |
p.L161F |
Chr.13:
48345180-48345180
on Build GRCh38
|
6943892 |
c.417_418insA |
p.T140fs*6 |
Chr.13:
48345116-48345117
on Build GRCh38
|
6920656 |
c.478G>T |
p.A160S |
Chr.13:
48345177-48345177
on Build GRCh38
|
391280 |
c.465delT |
p.Y155fs*1 |
Chr.13:
48345164-48345164
on Build GRCh38
|
6932997 |
c.393_394insT |
p.N133fs*1 |
Chr.13:
48345092-48345093
on Build GRCh38
|
6842520 |
c.466_466delG |
p.D156fs*19 |
Chr.13:
48345165-48345165
on Build GRCh38
|
6949852 |
c.446_447insA |
p.R150fs*7 |
Chr.13:
48345145-48345146
on Build GRCh38
|
5702489 |
c.430_431GT>AG |
p.V144S |
Chr.13:
48345129-48345130
on Build GRCh38
|
6975067 |
c.493_500+109del117 |
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Chr.13:
48345192-48345308
on Build GRCh38
|
5369762 |
c.460A>T |
p.K154* |
Chr.13:
48345159-48345159
on Build GRCh38
|
13403 |
c.496G>T |
p.E166* |
Chr.13:
48345195-48345195
on Build GRCh38
|
147686 |
c.450A>T |
p.R150S |
Chr.13:
48345149-48345149
on Build GRCh38
|
890 |
c.409G>T |
p.E137* |
Chr.13:
48345108-48345108
on Build GRCh38
|
326324 |
c.381-2A>T |
p.? |
Chr.13:
48345078-48345078
on Build GRCh38
|
4047920 |
c.470T>C |
p.V157A |
Chr.13:
48345169-48345169
on Build GRCh38
|
6438188 |
c.397_397delA |
p.N133fs*3 |
Chr.13:
48345096-48345096
on Build GRCh38
|
5701114 |
c.404_405insT |
p.E137fs*3 |
Chr.13:
48345103-48345104
on Build GRCh38
|
4603936 |
c.464_465insTGATG |
p.L158fs*19 |
Chr.13:
48345163-48345164
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|
1027 |
c.500+2delT |
p.? |
Chr.13:
48345201-48345201
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|
947786 |
c.443T>C |
p.M148T |
Chr.13:
48345142-48345142
on Build GRCh38
|
5575598 |
c.401_402insA |
p.L135fs*5 |
Chr.13:
48345100-48345101
on Build GRCh38
|
5701004 |
c.431delT |
p.D145fs*8 |
Chr.13:
48345130-48345130
on Build GRCh38
|
19545 |
c.1_*del |
p.0 |
Chr.13:
48303913-48480071
on Build GRCh38
|
5030962 |
c.465T>A |
p.Y155* |
Chr.13:
48345164-48345164
on Build GRCh38
|
5700973 |
c.381-1G>T |
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Chr.13:
48345079-48345079
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|
1045 |
c.484_485TT>C |
p.F162fs*13 |
Chr.13:
48345183-48345184
on Build GRCh38
|
6926955 |
c.488G>T |
p.S163I |
Chr.13:
48345187-48345187
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|