ARHGAP29 | Mutation | In-Frame | ENST00000260526.6 |
g.94640194_94640199del
|
c.3012_3017del
|
p.Asn1004_Val1006delinsLys
|
damaging
|
C10orf90 | Mutation | In-Frame | ENST00000284694.7 |
g.128192896_128192897insCGA
|
c.872_873insTCG
|
p.Ser291_Leu292insArg
|
damaging
|
TRIM44 | Mutation | In-Frame | ENST00000299413.5 |
g.35684956_35684973del
|
c.297_314del
|
p.Ser107_Glu112del
|
damaging
|
RNF10 | Mutation | In-Frame | ENST00000325954.4 |
g.120984355_120984356insGCA
|
c.305_306insGCA
|
p.Gly102_Ser103insHis
|
damaging
|
ARNTL2 | Mutation | In-Frame | ENST00000266503.5 |
g.27523083_27523084insCGTGGTGGT
|
c.204_205insCGTGGTGGT
|
p.Lys68_Val69insArgGlyGly
|
damaging
|
CEP128 | Mutation | In-Frame | ENST00000216517.6 |
g.81307094_81307096del
|
c.779_781del
|
p.Glu260del
|
damaging
|
DNMT1 | Mutation | In-Frame | ENST00000340748.4 |
g.10251514_10251522del
|
c.3410_3418del
|
p.Pro1137_Leu1139del
|
damaging
|
HNRNPCL1 | Mutation | Missense | ENST00000317869.6 |
g.12907365C>T
|
c.778G>A
|
p.Glu260Lys
|
possibly damaging
|
THBS3 | Mutation | Missense | ENST00000368378.3 |
g.155167407A>C
|
c.2346T>G
|
p.His782Gln
|
probably damaging
|
PEAR1 | Mutation | Missense | ENST00000292357.7 |
g.156878523G>A
|
c.1192G>A
|
p.Asp398Asn
|
possibly damaging
|
LHX4 | Mutation | Missense | ENST00000263726.2 |
g.180241084G>C
|
c.721G>C
|
p.Glu241Gln
|
benign
|
ELF3 | Mutation | Missense | ENST00000359651.3 |
g.201981475C>T
|
c.389C>T
|
p.Ser130Phe
|
benign
|
MIA3 | Mutation | Missense | ENST00000344441.6 |
g.222801973G>T
|
c.1411G>T
|
p.Val471Phe
|
possibly damaging
|
OR2T33 | Mutation | Missense | ENST00000318021.2 |
g.248436227C>T
|
c.890G>A
|
p.Gly297Glu
|
benign
|
OR2T33 | Mutation | Missense | ENST00000318021.2 |
g.248436245T>C
|
c.872A>G
|
p.Lys291Arg
|
benign
|
ZCCHC17 | Mutation | Missense | ENST00000344147.5 |
g.31819535G>T
|
c.366G>T
|
p.Lys122Asn
|
possibly damaging
|
CSMD2 | Mutation | Missense | ENST00000241312.4 |
g.33985512G>A
|
c.10204C>T
|
p.Arg3546Cys
|
benign
|
EXO5 | Mutation | Missense | ENST00000296380.4 |
g.40981256C>A
|
c.1040C>A
|
p.Thr347Asn
|
benign
|
ACOT7 | Mutation | Missense | ENST00000361521.4 |
g.6453428G>T
|
c.32C>A
|
p.Pro11Gln
|
benign
|
TCF7L2 | Mutation | Missense | ENST00000349937.2 |
g.114711316C>G
|
c.331C>G
|
p.Leu111Val
|
benign
|
KIAA1598 | Mutation | Missense | ENST00000260777.10 |
g.118728190C>T
|
c.145G>A
|
p.Val49Ile
|
benign
|
PRLHR | Mutation | Missense | ENST00000239032.2 |
g.120354591C>A
|
c.166G>T
|
p.Val56Leu
|
benign
|
FUT11 | Mutation | Missense | ENST00000372841.3 |
g.75532458T>C
|
c.367T>C
|
p.Tyr123His
|
probably damaging
|
SORBS1 | Mutation | Missense | ENST00000361941.3 |
g.97111094C>G
|
c.2254G>C
|
p.Glu752Gln
|
probably damaging
|
GRIA4 | Mutation | Missense | ENST00000282499.5 |
g.105774602G>C
|
c.948G>C
|
p.Arg316Ser
|
benign
|