| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
|
c.252_253delinsG |
2 |
84 |
Sm, NM |
|
Small rearrangement |
indels |
indels |
2  |
|
|
|
c.431_432delinsAA |
2 |
145 |
Ju, Sm,NM,HD |
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1780 |
02-BO14-J05A-942 | Male |
Heterozygous |
CAUSAL |
|
27 |
|
|
c.570_571delinsC |
3 |
190 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
indels |
indels |
3  |
|
|
|
c.570_571delinsC
|
3 |
190 |
Ju,Sm,NMH,HD,NM |
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 54 |
04-DE12-J05A-962 | Male |
Heterozygous |
CAUSAL |
W1069 |
0 |
|
|
c.IVS3-1delinsTT (c.655-1delinsTT) |
4 |
219 |
|
|
Small rearrangement |
Tv |
delinsTT |
2  |
|
|
|
c.1229_1243delinsG |
9 |
411 |
Ju,Pem,NM,RP,HD,CH |
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 925 |
03-PO14-C08R-970 | Female |
Heterozygous |
CAUSAL |
|
0 |
|
|
c.1252_1269delinsAAATGT |
9 |
418 |
|
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1986 |
04-RA14-E13-978 | Female |
|
LIKELY CAUSAL |
|
0 |
|
|
c.1378_1378delinsAATAAG |
10 |
460 |
Pem,NM,CH |
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1657 |
02-BO21-F01B-969 | Male |
Heterozygous |
CAUSAL |
|
0 |
|
|
c.1378_1378delinsAATAAGT |
10 |
460 |
Pem,NM,CH |
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1689 |
02-RO19-E13M-003 | Female |
Heterozygous |
CAUSAL |
|
0 |
|
|
c.1378_1378delinsACATAAT |
10 |
460 |
Pem,NM,CH |
|
Small rearrangement |
indels |
indels |
11  |
|
|
|
c.1478_1479delinsA |
10 |
494 |
Sm3,CH |
|
Small rearrangement |
indels |
indels |
4  |
|
|
|
c.1567_1568delinsA |
10 |
523 |
Sm3,CH |
|
Small rearrangement |
indels |
indels |
5  |
|
|
|
c.1691_1694delinsCCAACGAAAATGAAG |
10 |
565 |
Sm,ASK,CH |
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1184 |
03-JE01-L09L-946 | Female |
Heterozygous |
CAUSAL |
|
0 |
|
|
c.1691_1694delinsCCACCAAGATGAA |
10 |
565 |
|
|
Small rearrangement |
indels |
indels |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Variation class |
Family ID |
References |
| 1957 |
04-JE01-Y15-004 | Male |
|
LIKELY CAUSAL |
|
0 |
|