DEDD | Mutation | In-Frame | ENST00000368006.3 |
g.161092121_161092122ins60
|
c.772_773insTTAAAAGCTTATCGATTATCAAATGTCTCAAAATAATTTCTGAATTTTATATTCTTTTTT
|
p.Ala258delins21
|
damaging
|
SDS | Mutation | In-Frame | ENST00000257549.4 |
g.113830948_113830950del
|
c.783_785del
|
p.Asp261del (Splice)
|
damaging
|
SPTBN4 | Mutation | In-Frame | ENST00000352632.3 |
g.41074120_41074128del
|
c.6888_6896del
|
p.Glu2297_Arg2299del
|
damaging
|
ALMS1 | Mutation | In-Frame | ENST00000264448.6 |
g.73717400_73717402delTCA
|
c.8315_8317del
|
p.S2774del
|
damaging
|
UBE4B | Mutation | Missense | ENST00000253251.8 |
g.10165756C>T
|
c.763C>T
|
p.Pro255Ser
|
probably damaging
|
CASQ2 | Mutation | Missense | ENST00000261448.5 |
g.116280896T>G
|
c.481A>C
|
p.Ile161Leu
|
benign
|
WDR3 | Mutation | Missense | ENST00000349139.5 |
g.118486168G>T
|
c.1247G>T
|
p.Ser416Ile
|
possibly damaging
|
ISG20L2 | Mutation | Missense | ENST00000313146.6 |
g.156693245T>A
|
c.958A>T
|
p.Ser320Cys
|
probably damaging
|
ISG20L2 | Mutation | Missense | ENST00000313146.6 |
g.156693246C>A
|
c.957G>T
|
p.Lys319Asn
|
benign
|
PVRL4 | Mutation | Missense | ENST00000368012.3 |
g.161044518C>T
|
c.883G>A
|
p.Val295Met
|
benign
|
DUSP27 | Mutation | Missense | ENST00000271385.5 |
g.167095864G>A
|
c.1496G>A
|
p.Ser499Asn
|
benign
|
UBR4 | Mutation | Missense | ENST00000375217.2 |
g.19487604G>C
|
c.5213C>G
|
p.Ser1738Cys
|
probably damaging
|
HTR6 | Mutation | Missense | ENST00000289753.1 |
g.20005620G>A
|
c.1082G>A
|
p.Arg361Gln
|
benign
|
TMCO4 | Mutation | Missense | ENST00000294543.6 |
g.20097862A>G
|
c.293T>C
|
p.Val98Ala
|
benign
|
SLC26A9 | Mutation | Missense | ENST00000340781.4 |
g.205901160G>T
|
c.380C>A
|
p.Thr127Asn
|
probably damaging
|
PIGR | Mutation | Missense | ENST00000356495.4 |
g.207106335C>T
|
c.1882G>A
|
p.Gly628Ser
|
benign
|
RAP1GAP | Mutation | Missense | ENST00000374763.2 |
g.21930396T>C
|
c.1438A>G
|
p.Ile480Val
|
damaging
|
CAPN2 | Mutation | Missense | ENST00000295006.5 |
g.223905492T>C
|
c.266T>C
|
p.Ile89Thr
|
benign
|
DNAH14 | Mutation | Missense | ENST00000430092.1 |
g.225284926C>T
|
c.3680C>T
|
p.Ser1227Phe
|
probably damaging
|
DNAH14 | Mutation | Missense | ENST00000430092.1 |
g.225534194T>C
|
c.10855T>C
|
p.Cys3619Arg
|
probably damaging
|
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228463548C>A
|
c.6041C>A
|
p.Pro2014Gln
|
probably damaging
|
OBSCN | Mutation | Missense | ENST00000422127.1 |
g.228560647T>C
|
c.22168T>C
|
p.Ser7390Pro
|
benign
|
URB2 | Mutation | Missense | ENST00000258243.2 |
g.229773793A>G
|
c.3433A>G
|
p.Arg1145Gly
|
benign
|
TSNAX | Mutation | Missense | ENST00000366639.4 |
g.231673018C>T
|
c.181C>T
|
p.Arg61Trp
|
probably damaging
|
OPN3 | Mutation | Missense | ENST00000366554.2 |
g.241767861G>C
|
c.394C>G
|
p.Leu132Val
|
probably damaging
|