SIGLEC6 | Mutation | In-Frame | ENST00000343300.4 |
g.52034110_52034115del
|
c.526_531del
|
p.Thr176_Pro177del
|
damaging
|
CEP19 | Mutation | In-Frame | ENST00000409690.3 |
g.196434521_196434523del
|
c.403_405del
|
p.Lys135del
|
damaging
|
CITED2 | Mutation | In-Frame | ENST00000367651.2 |
g.139694491_139694502del
|
c.580_591del
|
p.Gly194_Gly197del
|
damaging
|
AP4B1 | Mutation | Missense | ENST00000256658.4 |
g.114442556C>A
|
c.1084G>T
|
p.Asp362Tyr
|
probably damaging
|
SLC22A15 | Mutation | Missense | ENST00000369503.4 |
g.116579932G>A
|
c.1094G>A
|
p.Arg365Gln
|
probably damaging
|
MTHFR | Mutation | Missense | ENST00000376590.3 |
g.11863022C>T
|
c.152G>A
|
p.Arg51Gln
|
probably damaging
|
DVL1 | Mutation | Missense | ENST00000378891.5 |
g.1271557C>T
|
c.1978G>A
|
p.Gly660Arg
|
probably damaging
|
C1orf51 | Mutation | Missense | ENST00000290363.5 |
g.150259184A>T
|
c.976A>T
|
p.Met326Leu
|
benign
|
BNIPL | Mutation | Missense | ENST00000368931.3 |
g.151010995G>C
|
c.153G>C
|
p.Glu51Asp
|
probably damaging
|
IVL | Mutation | Missense | ENST00000368764.3 |
g.152882410A>G
|
c.137A>G
|
p.Lys46Arg
|
probably damaging
|
NPR1 | Mutation | Missense | ENST00000368680.3 |
g.153651622G>T
|
c.38G>T
|
p.Arg13Leu
|
benign
|
MIB2 | Mutation | Missense | ENST00000357210.4 |
g.1560479G>A
|
c.809G>A
|
p.Arg270His
|
probably damaging
|
SPEN | Mutation | Missense | ENST00000375759.3 |
g.16235857G>C
|
c.923G>C
|
p.Arg308Pro
|
probably damaging
|
DCAF6 | Mutation | Missense | ENST00000312263.6 |
g.167944183C>G
|
c.368C>G
|
p.Thr123Ser
|
probably damaging
|
ALDH4A1 | Mutation | Missense | ENST00000290597.5 |
g.19209807G>A
|
c.569C>T
|
p.Pro190Leu
|
benign
|
IGFN1 | Mutation | Missense | ENST00000335211.4 |
g.201186421C>T
|
c.9602C>T
|
p.Pro3201Leu
|
probably damaging
|
PLEKHA6 | Mutation | Missense | ENST00000272203.3 |
g.204199666T>A
|
c.2458A>T
|
p.Ser820Cys
|
probably damaging
|
HSPG2 | Mutation | Missense | ENST00000374695.3 |
g.22158206C>T
|
c.11291G>A
|
p.Arg3764His
|
probably damaging
|
CDC42BPA | Mutation | Missense | ENST00000366769.3 |
g.227182658C>T
|
c.4894G>A
|
p.Ala1632Thr
|
probably damaging
|
OR2T4 | Mutation | Missense | ENST00000366475.1 |
g.248524992A>G
|
c.110A>G
|
p.Asn37Ser
|
benign
|
AUNIP | Mutation | Missense | ENST00000374298.3 |
g.26161924C>T
|
c.634G>A
|
p.Glu212Lys
|
benign
|
PTPRU | Mutation | Missense | ENST00000323874.8 |
g.29581862A>T
|
c.149A>T
|
p.Gln50Leu
|
possibly damaging
|
TRIM62 | Mutation | Missense | ENST00000291416.5 |
g.33625445G>A
|
c.605C>T
|
p.Ala202Val
|
benign
|
MEGF6 | Mutation | Missense | ENST00000356575.4 |
g.3511910C>T
|
c.368G>A
|
p.Cys123Tyr
|
probably damaging
|
YIPF1 | Mutation | Missense | ENST00000072644.1 |
g.54332570G>A
|
c.509C>T
|
p.Ala170Val
|
benign
|