 |
 |
 |
 |
 |
 |
 |
 |
 |
01 |
c.9dupA (Reported 2 times) |
- |
Duplication |
Frameshift |
p.(Arg4Thrfs*33) |
- |
- |
P3H1_00037 |
01 |
c.26T>C (Reported 2 times) |
- |
Substitution |
Missense |
p.Leu9Pro |
- |
- |
P3H1_00041 |
01 |
c.95_99delinsA |
- |
Insertion/Deletion |
Frameshift |
p.(Met32Lysfs*24) |
- |
- |
LEPRE1_00045 |
01 |
c.105_120del |
- |
Deletion |
Frameshift |
p.(Asp36Argfs*16) |
- |
- |
P3H1_00035 |
01 |
c.138C>A (Reported 2 times) |
- |
Substitution |
Nonsense |
c.(Tyr46*) |
- |
- |
LEPRE1_00055 |
01 |
c.232delC (Reported 7 times) |
- |
Deletion |
Frameshift |
p.(Gln78Serfs*30) |
- |
- |
P3H1_00005 |
01 |
c.392C>A (Reported 2 times) |
- |
Substitution |
Nonsense |
p.(Ser131*) |
- |
- |
P3H1_00006 |
01 |
c.401_402del (Reported 2 times) |
- |
Deletion |
Frameshift |
p.(Glu134Glyfs*41) |
- |
- |
LEPRE1_00026 |
01 |
c.428G>C |
- |
Substitution |
Missense |
p.(Arg143Pro) |
- |
- |
P3H1_00040 |
01 |
c.439_441del (Reported 2 times) |
- |
Deletion |
In-frame deletion |
p.(Asn147del) |
- |
- |
LEPRE1_00037 |
02 |
c.484del |
- |
Deletion |
Frameshift |
p.(Ala162Leufs*22) |
- |
- |
LEPRE1_00031 |
02 |
c.570_571del (Reported 2 times) |
- |
Deletion |
Frameshift |
p.(Gly191Serfs*10) |
- |
- |
LEPRE1_00038 |
02i |
c.618+1G>A |
- |
Substitution |
Splice site |
- |
- |
- |
LEPRE1_00046 |
03 |
c.628C>T (Reported 2 times) |
- |
Substitution |
Nonsense |
p.(Arg210*) |
- |
- |
P3H1_00015 |
03 |
c.747delC |
- |
Deletion |
Frameshift |
p.(Tyr250Metfs*87) |
- |
NlaIV - |
P3H1_00003 |
03 |
c.765C>A (Reported 2 times) |
- |
Substitution |
Nonsense |
p.(Tyr255*) |
- |
- |
P3H1_00009 |
04 |
c.838C>T |
- |
Substitution |
Nonsense |
p.(Gln280*) |
- |
- |
LEPRE1_00036 |
04 |
c.879_880del (Reported 2 times) |
- |
Deletion |
Frameshift |
p.(Lys294Alafs*3) |
- |
- |
P3H1_00051 |
04 |
c.927delT (Reported 2 times) |
- |
Deletion |
Frameshift |
p.(Phe309Leufs*28) |
- |
- |
LEPRE1_00035 |
04 |
c.933C>G (Reported 2 times) |
- |
Substitution |
Nonsense |
p.(Tyr311*) |
- |
- |
P3H1_00007 |
05 |
c.1026del |
- |
Deletion |
Frameshift |
p.(Tyr343Ilefs*56) |
- |
- |
P3H1_00049 |
05 |
c.1045G>A (Reported 2 times) |
dbSNP |
Substitution |
Missense |
p.(Gly349Arg) |
- |
- |
P3H1_00025 |
05i |
c.1080+1G>T (Reported 63 times) |
- |
Substitution |
Splice site |
- |
- |
BslI + |
P3H1_00001 |
06 |
c.1087A>G |
- |
Substitution |
Missense |
p.(Lys363Glu) |
- |
- |
P3H1_00026 |
06 |
c.1102C>T |
- |
Substitution |
Nonsense |
p.(Arg368*) |
- |
- |
P3H1_00016 |
06 |
c.1120G>T (Reported 3 times) |
- |
Substitution |
Nonsense |
p.(Glu374*) |
- |
- |
LEPRE1_00039 |
06 |
c.1170G>A |
- |
Substitution |
Splice site |
- |
- |
- |
LEPRE1_00052 |
06 |
c.1170G>C (Reported 2 times) |
- |
Substitution |
Splice site |
- |
- |
- |
P3H1_00046 |
06i |
c.1170+2T>A (Reported 2 times) |
- |
Substitution |
Splice site |
- |
- |
- |
P3H1_00012 |
06i |
c.1170+5G>C (Reported 7 times) |
- |
Substitution |
Splice site |
- |
- |
- |
P3H1_00013 |
07 |
c.1223+2T>G (Reported 2 times) |
- |
Substitution |
Splice site |
- |
- |
- |
LEPRE1_00034 |
08 |
c.1244dup |
- |
Duplication |
Frameshift |
p.(Arg416Thrfs*40) |
- |
- |
LEPRE1_00054 |
08 |
c.1300G>T |
- |
Substitution |
Nonsense |
p.(Glu434*) |
- |
- |
LEPRE1_00051 |
08 |
c.1345G>A (Reported 2 times) |
- |
Substitution |
Missense |
p.(Gly449Ser) |
- |
- |
LEPRE1_00040 |
08 |
c.1345G>C (Reported 2 times) |
- |
Substitution |
Missense |
p.(Gly449Arg) |
- |
- |
LEPRE1_00041 |
08i |
c.1346-1G>C (Reported 4 times) |
- |
Substitution |
Splice site |
- |
- |
- |
P3H1_00043 |
09 |
c.1346-340_1473+36del (Reported 4 times) |
- |
Deletion |
Frameshift |
- |
- |
- |
P3H1_00011 |
09 |
c.1365_1366delinsC (Reported 2 times) |
- |
Insertion/Deletion |
Frameshift |
p.(Glu455Aspfs*7) |
- |
- |
P3H1_00014 |
09 |
c.1383_1389dup (Reported 3 times) |
- |
Duplication |
Frameshift |
p.(Lys464Glufs*19) |
- |
Hpy188I + |
P3H1_00010 |
09 |
c.1459C>T |
- |
Substitution |
Nonsense |
p.(Gln487*) |
- |
- |
LEPRE1_00053 |
09 |
c.1466T>C |
- |
Substitution |
Missense |
p.(Leu489Pro) |
- |
- |
LEPRE1_00027 |
09i |
c.1473+1G>T |
- |
Substitution |
Splice site |
- |
- |
MseI + |
P3H1_00002 |
09i |
c.1473+3A>C |
- |
Substitution |
Splice site |
- |
- |
- |
LEPRE1_00029 |
10 |
c.1501C>T |
- |
Substitution |
Missense |
p.(Arg501Trp) |
- |
- |
P3H1_00029 |
10 |
c.1517C>G |
dbSNP |
Substitution |
Missense |
p.(Pro506Arg) |
- |
- |
P3H1_00024 |
10 |
c.1554_1555del |
- |
Deletion |
Frameshift |
:p.(Phe519Glnfs*63) |
- |
- |
LEPRE1_00047 |
11 |
c.1636C>T (Reported 4 times) |
- |
Substitution |
Missense |
p.(Arg546Trp) |
- |
- |
P3H1_00047 |
11 |
c.1646T>G |
- |
Substitution |
Missense |
p.(Met549Arg) |
- |
- |
P3H1_00039 |
11 |
c.1647G>A (Reported 2 times) |
dbSNP |
Substitution |
Missense |
p.(Met549Ile) |
- |
- |
P3H1_00023 |
11 |
c.1656C>A (Reported 2 times) |
- |
Substitution |
Nonsense |
p.(Tyr552*) |
- |
Tsp509I + |
P3H1_00004 |
11 |
c.1675dupC |
- |
Duplication |
Frameshift |
p.(Leu559Profs*24) |
- |
- |
LEPRE1_00030 |
11 |
c.1716C>T |
dbSNP |
Substitution |
Silent |
p.(=) |
- |
- |
P3H1_00022 |
11i |
c.1720+5G>A |
- |
Substitution |
Splice site |
- |
- |
- |
LEPRE1_00048 |
11i |
c.1720+52C>T |
- |
Substitution |
Other |
- |
- |
- |
P3H1_00028 |
12 |
c.1812C>T (Reported 2 times) |
dbSNP |
Substitution |
Silent |
p.(Pro604=) |
- |
- |
P3H1_00021 |
12i |
c.1839-30G>A |
- |
Substitution |
Other |
- |
- |
- |
P3H1_00031 |
13i |
c.1914+1G>A (Reported 2 times) |
- |
Substitution |
Splice site |
- |
- |
- |
P3H1_00053 |
13 |
c.1838+2T>C |
- |
Substitution |
Splice site |
- |
- |
- |
P3H1_00052 |
13 |
c.1881_1882del (Reported 3 times) |
- |
Deletion |
Frameshift |
p.(Phe627Leufs*4) |
- |
- |
LEPRE1_00042 |
13i |
c.1914+1G>A (Reported 4 times) |
- |
Substitution |
Splice site |
- |
- |
- |
LEPRE1_00044 |
13i |
c.1915-20T>G |
- |
Substitution |
Other |
- |
- |
- |
P3H1_00032 |
13i |
c.1915-1G>A |
- |
Substitution |
Splice site |
- |
- |
- |
LEPRE1_00028 |
14 |
c.1924_1934del |
- |
Deletion |
Frameshift |
p.(Gln642Trpfs*11) |
- |
BslI - |
P3H1_00018 |
14 |
c.1930C>A |
dbSNP |
Substitution |
Missense |
p.(Gln644Lys) |
- |
- |
P3H1_00020 |
14 |
c.1948G>C |
- |
Substitution |
Missense |
p.Gly650Arg |
- |
- |
P3H1_00038 |
14 |
c.1996delA |
- |
Deletion |
Frameshift |
p.(Arg666Glyfs*29) |
- |
- |
LEPRE1_00049 |
14 |
c.2014dup (Reported 2 times) |
- |
Duplication |
Frameshift |
p.(Ile672Asnfs*21) |
- |
- |
LEPRE1_00043 |
14 |
c.2024G>T |
- |
Substitution |
Missense |
p.(Trp675Leu) |
- |
- |
P3H1_00027 |
14 |
c.2041C>T (Reported 6 times) |
- |
Substitution |
Nonsense |
p.(Arg681*) |
- |
- |
P3H1_00008 |
14i |
c.2055+17C>T |
- |
Substitution |
Other |
- |
- |
- |
P3H1_00033 |
14i |
c.2055+18G>A (Reported 3 times) |
- |
Substitution |
Splice site |
- |
- |
- |
P3H1_00017 |
14i |
c.2055+74T>A |
- |
Substitution |
Other |
- |
- |
- |
P3H1_00034 |
14i |
c.2056-1G>A (Reported 2 times) |
- |
Substitution |
Splice site |
- |
- |
- |
LEPRE1_00033 |
15 |
c.2143C>T |
- |
Substitution |
Nonsense |
p.(Gln715*) |
- |
- |
P3H1_00044 |
15 |
c.2148_2149delinsA |
- |
Insertion/Deletion |
Frameshift |
p.(Glu719Asnfs*29) |
- |
- |
LEPRE1_00050 |
15 |
c.2155dupC |
- |
Duplication |
Frameshift |
p.(Glu719Glyfs*11) |
- |
- |
LEPRE1_00032 |
15 |
c.2164C>T |
- |
Substitution |
Nonsense |
p.(Gln722*) |
- |
- |
P3H1_00036 |
15 |
c.*73C>T |
dbSNP |
Substitution |
UTR variant |
- |
- |
- |
P3H1_00019 |