84438 |
c.247C>T |
p.Q83* |
Chr.18:
51047293-51047293
on Build GRCh38
|
14104 |
c.1_*del |
p.0 |
Chr.18:
51047047-51078467
on Build GRCh38
|
7212309 |
c.188delC |
p.T63fs*31 |
Chr.18:
51047234-51047234
on Build GRCh38
|
14100 |
c.128T>C |
p.L43S |
Chr.18:
51047174-51047174
on Build GRCh38
|
30780 |
c.227G>T |
p.R76I |
Chr.18:
51047273-51047273
on Build GRCh38
|
5003169 |
c.147_148insAA |
p.D52fs*7 |
Chr.18:
51047193-51047194
on Build GRCh38
|
6476000 |
c.229A>G |
p.T77A |
Chr.18:
51047275-51047275
on Build GRCh38
|
30782 |
c.161T>C |
p.L54S |
Chr.18:
51047207-51047207
on Build GRCh38
|
4336375 |
c.147_148insA |
p.D52fs*2 |
Chr.18:
51047193-51047194
on Build GRCh38
|
6476037 |
c.246T>C |
p.L82L |
Chr.18:
51047292-51047292
on Build GRCh38
|
3422224 |
c.140T>A |
p.L47Q |
Chr.18:
51047186-51047186
on Build GRCh38
|
6784669 |
c.137A>G |
p.K46R |
Chr.18:
51047183-51047183
on Build GRCh38
|
3772572 |
c.208A>T |
p.K70* |
Chr.18:
51047254-51047254
on Build GRCh38
|
5730625 |
c.147G>C |
p.E49D |
Chr.18:
51047193-51047193
on Build GRCh38
|
4619094 |
c.125G>T |
p.S42I |
Chr.18:
51047171-51047171
on Build GRCh38
|
1389023 |
c.129G>T |
p.L43F |
Chr.18:
51047175-51047175
on Build GRCh38
|
14144 |
c.153A>G |
p.K51K |
Chr.18:
51047199-51047199
on Build GRCh38
|
6979299 |
c.212_249+374del412 |
p.? |
Chr.18:
51047258-51047669
on Build GRCh38
|
5730626 |
c.147G>C |
p.E49D |
Chr.18:
51047193-51047193
on Build GRCh38
|
6933405 |
c.235_249+12>T |
p.? |
Chr.18:
51047281-51047307
on Build GRCh38
|
6934105 |
c.249+1G>A |
p.? |
Chr.18:
51047296-51047296
on Build GRCh38
|
6475933 |
c.167C>A |
p.S56Y |
Chr.18:
51047213-51047213
on Build GRCh38
|
5001102 |
c.145G>T |
p.E49* |
Chr.18:
51047191-51047191
on Build GRCh38
|
7410348 |
c.147_147delG |
p.D52fs*6 |
Chr.18:
51047193-51047193
on Build GRCh38
|
49085 |
c.170T>A |
p.L57* |
Chr.18:
51047216-51047216
on Build GRCh38
|
4809260 |
c.129G>T |
p.L43F |
Chr.18:
51047175-51047175
on Build GRCh38
|
6969830 |
c.188_189insA |
p.N64fs*6 |
Chr.18:
51047234-51047235
on Build GRCh38
|
6925891 |
c.147_148GA>TT |
p.E49_K50>D* |
Chr.18:
51047193-51047194
on Build GRCh38
|
5732151 |
c.182T>C |
p.I61T |
Chr.18:
51047228-51047228
on Build GRCh38
|
6957785 |
c.216_217insA |
p.T73fs*31 |
Chr.18:
51047262-51047263
on Build GRCh38
|
6784686 |
c.249+2T>C |
p.? |
Chr.18:
51047297-51047297
on Build GRCh38
|
6362031 |
c.223C>A |
p.Q75K |
Chr.18:
51047269-51047269
on Build GRCh38
|
6973678 |
c.181A>G |
p.I61V |
Chr.18:
51047227-51047227
on Build GRCh38
|
6362032 |
c.223C>A |
p.Q75K |
Chr.18:
51047269-51047269
on Build GRCh38
|
4072503 |
c.178G>C |
p.A60P |
Chr.18:
51047224-51047224
on Build GRCh38
|
6943827 |
c.157_158ins13 |
p.T59fs*15 |
Chr.18:
51047203-51047204
on Build GRCh38
|
6854017 |
c.137A>C |
p.K46T |
Chr.18:
51047183-51047183
on Build GRCh38
|
7197202 |
c.182T>G |
p.I61R |
Chr.18:
51047228-51047228
on Build GRCh38
|
6191496 |
c.157G>A |
p.E53K |
Chr.18:
51047203-51047203
on Build GRCh38
|
5003311 |
c.169T>G |
p.L57V |
Chr.18:
51047215-51047215
on Build GRCh38
|
1611278 |
c.220_221insT |
p.Q75fs*29 |
Chr.18:
51047266-51047267
on Build GRCh38
|
6979300 |
c.212_249+374del412 |
p.? |
Chr.18:
51047258-51047669
on Build GRCh38
|
988903 |
c.209A>C |
p.K70T |
Chr.18:
51047255-51047255
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|
6475932 |
c.167C>A |
p.S56Y |
Chr.18:
51047213-51047213
on Build GRCh38
|
6973212 |
c.181_182insT |
p.T62fs*8 |
Chr.18:
51047227-51047228
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|
3787509 |
c.170T>C |
p.L57S |
Chr.18:
51047216-51047216
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|
218556 |
c.131T>G |
p.V44G |
Chr.18:
51047177-51047177
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|
4619093 |
c.125G>T |
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Chr.18:
51047171-51047171
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|
6571884 |
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Chr.18:
51047297-51047297
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|
7197201 |
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51047228-51047228
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|
6925890 |
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p.E49_K50>D* |
Chr.18:
51047193-51047194
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|
1151802 |
c.193G>A |
p.G65R |
Chr.18:
51047239-51047239
on Build GRCh38
|
6957786 |
c.216_217insA |
p.T73fs*31 |
Chr.18:
51047262-51047263
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|
6784670 |
c.137A>G |
p.K46R |
Chr.18:
51047183-51047183
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|
5600530 |
c.219C>T |
p.T73T |
Chr.18:
51047265-51047265
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|
5600531 |
c.219C>T |
p.T73T |
Chr.18:
51047265-51047265
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|
6475998 |
c.155A>G |
p.D52G |
Chr.18:
51047201-51047201
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|
7212310 |
c.188delC |
p.T63fs*31 |
Chr.18:
51047234-51047234
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|
6571883 |
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Chr.18:
51047297-51047297
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|
169637 |
c.169T>G |
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Chr.18:
51047215-51047215
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|
6943826 |
c.157_158ins13 |
p.T59fs*15 |
Chr.18:
51047203-51047204
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|
6476009 |
c.141G>A |
p.L47L |
Chr.18:
51047187-51047187
on Build GRCh38
|
6969831 |
c.188_189insA |
p.N64fs*6 |
Chr.18:
51047234-51047235
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|
6934104 |
c.249+1G>A |
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Chr.18:
51047296-51047296
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|
6475997 |
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51047201-51047201
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|
6784687 |
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Chr.18:
51047297-51047297
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|
1389024 |
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Chr.18:
51047216-51047216
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|
6968003 |
c.241A>G |
p.R81G |
Chr.18:
51047287-51047287
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|
6979474 |
c.202_249+36del84 |
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Chr.18:
51047248-51047331
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|
5732152 |
c.182T>C |
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51047228-51047228
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|
6968004 |
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51047287-51047287
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|
1151372 |
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51047203-51047203
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|
5369898 |
c.216_216delT |
p.T73fs*21 |
Chr.18:
51047262-51047262
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|
5003170 |
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p.D52fs*7 |
Chr.18:
51047193-51047194
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|
6935545 |
c.234G>T |
p.L78F |
Chr.18:
51047280-51047280
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|
14091 |
c.153_154insA |
p.K51fs*2 |
Chr.18:
51047199-51047200
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|
6475999 |
c.229A>G |
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Chr.18:
51047275-51047275
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|
7346438 |
c.140T>C |
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Chr.18:
51047186-51047186
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|
2879534 |
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51047193-51047194
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|
6935544 |
c.234G>T |
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Chr.18:
51047280-51047280
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|
6973213 |
c.181_182insT |
p.T62fs*8 |
Chr.18:
51047227-51047228
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|
6933406 |
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Chr.18:
51047281-51047307
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|
6982896 |
c.161T>C |
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51047207-51047207
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|
6476036 |
c.246T>C |
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51047292-51047292
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|
1151612 |
c.135G>T |
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51047181-51047181
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5001101 |
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51047191-51047191
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|
297395 |
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51047152-51047181
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|
4072502 |
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51047224-51047224
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|
3772573 |
c.208A>T |
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51047254-51047254
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|
6476008 |
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51047187-51047187
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|
6979475 |
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Chr.18:
51047248-51047331
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|
5065900 |
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51047186-51047186
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|
6973677 |
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51047227-51047227
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