| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.IVS70+1G>A (c.10223+1G>A) |
70-71 |
3408 |
|
|
Small rearrangement |
Ts |
G->A |
9  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6968 |
---MD_FR#F69154154m1 | M |
|
FR |
|
0 |
| 1073 |
---MD_CH#85 | M |
|
CH |
|
0 |
| 6964 |
---MD_FR#F3417510511 | M |
|
FR |
|
0 |
| 12052 |
---MD_JP#20100617-01 | M |
|
JP |
|
0 |
| 6980 |
---MD_FR#F754248011 | M |
|
FR |
|
0 |
| 6982 |
---MD_FR#F751511011 | M |
|
FR |
|
0 |
| 6988 |
---MD_FR#F754062111 | M |
|
FR |
|
0 |
| 6984 |
---MD_FR#F754062011 | M |
|
FR |
|
0 |
| 6976 |
---MD_FR#F37C154506991 | M |
|
FR |
|
0 |
|
|
c.IVS70+1G>T (c.10223+1G>T) |
70-71 |
3408 |
|
|
Small rearrangement |
Tv |
G->T |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 10061 |
---MD_HU#2763 | M |
|
HU |
|
0 |
| 10059 |
---MD_HU#2762 | M |
|
HU |
|
0 |
|
|
c.IVS70+2InsT (c.10223+2InsT) |
70-71 |
3408 |
|
|
Small rearrangement |
Tv |
InsT |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6974 |
---MD_FR#F3451425161 | M |
|
FR |
|
0 |
| 6966 |
---MD_FR#F69145376m1 | M |
|
FR |
|
0 |
|
|
c.IVS70+3G>C (c.10223+3G>C) |
70-71 |
3408 |
|
|
Small rearrangement |
Tv |
G->C |
3  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11346 |
---MD_JP#20090918-04 | M |
|
JP |
|
0 |
| 6970 |
---MD_FR#F69221070m1 | M |
|
FR |
|
0 |
| 6978 |
---MD_FR#F753804011 | M |
|
FR |
|
0 |
|
|
c.IVS70+5G>A (c.10223+5G>A) |
70-71 |
3408 |
|
|
Small rearrangement |
Ts |
G->A |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6972 |
---MD_FR#F372057803391 | M |
|
FR |
|
0 |
| 6986 |
---MD_FR#F754757011 | M |
|
FR |
|
0 |
|
|
c.IVS70-1InsT (c.10224-1InsT) |
70-71 |
3408 |
|
|
Small rearrangement |
Tv |
InsT |
2  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 11640 |
---MD_JP#20091204-02 | M |
|
JP |
|
0 |
| 11638 |
---MD_JP#20091204-01 | M |
|
JP |
|
0 |
|