AXDND1 | Mutation | In-Frame | ENST00000367618.3 |
g.179504043_179504045del
|
c.2977_2979del
|
p.Gln993del
|
damaging
|
TMEM180 | Mutation | In-Frame | ENST00000238936.4 |
g.104230726_104230728del
|
c.556_558del
|
p.Lys186del
|
damaging
|
TTN | Mutation | In-Frame | ENST00000342992.6 |
g.179422685_179422687del
|
c.79690_79692del
|
p.Ile26564del
|
damaging
|
NCL | Mutation | In-Frame | ENST00000322723.4 |
g.232325460_232325462del
|
c.729_731del
|
p.Glu243del
|
damaging
|
PRIMPOL | Mutation | In-Frame | ENST00000314970.6 |
g.185615681_185615683del
|
c.1431_1433del
|
p.Glu478del
|
damaging
|
SYCP1 | Mutation | Missense | ENST00000369518.1 |
g.115524039G>A
|
c.2465G>A
|
p.Arg822Gln
|
benign
|
DRAXIN | Mutation | Missense | ENST00000294485.5 |
g.11766524G>A
|
c.209G>A
|
p.Gly70Asp
|
possibly damaging
|
CLCN6 | Mutation | Missense | ENST00000312413.6 |
g.11888268G>A
|
c.946G>A
|
p.Glu316Lys
|
benign
|
GLTPD1 | Mutation | Missense | ENST00000343938.4 |
g.1262701G>A
|
c.203G>A
|
p.Arg68Lys
|
possibly damaging
|
TCHH | Mutation | Missense | ENST00000368804.1 |
g.152080879C>T
|
c.4814G>A
|
p.Arg1605His
|
possibly damaging
|
KPRP | Mutation | Missense | ENST00000368773.1 |
g.152732959C>T
|
c.895C>T
|
p.Arg299Cys
|
probably damaging
|
CRTC2 | Mutation | Missense | ENST00000368633.1 |
g.153921613A>T
|
c.1652T>A
|
p.Met551Lys
|
benign
|
MUC1 | Mutation | Missense | ENST00000368395.1 |
g.155159989G>A
|
c.1145C>T
|
p.Ala382Val
|
probably damaging
|
FBLIM1 | Mutation | Missense | ENST00000332305.5 |
g.16091618C>T
|
c.140C>T
|
p.Ala47Val
|
benign
|
SPEN | Mutation | Missense | ENST00000375759.3 |
g.16260782G>A
|
c.8047G>A
|
p.Val2683Met
|
probably damaging
|
ZBTB17 | Mutation | Missense | ENST00000375733.2 |
g.16273459C>G
|
c.365G>C
|
p.Gly122Ala
|
benign
|
CDK11A | Mutation | Missense | ENST00000378633.1 |
g.1635549G>T
|
c.1732C>A
|
p.Pro578Thr
|
damaging
|
FMO3 | Mutation | Missense | ENST00000367755.4 |
g.171077348C>T
|
c.613C>T
|
p.Arg205Cys
|
benign
|
BRINP2 | Mutation | Missense | ENST00000361539.4 |
g.177250522G>A
|
c.2210G>A
|
p.Arg737Gln
|
possibly damaging
|
CNTN2 | Mutation | Missense | ENST00000331830.4 |
g.205035023C>T
|
c.1802C>T
|
p.Thr601Ile
|
possibly damaging
|
RASSF5 | Mutation | Missense | ENST00000355294.4 |
g.206757771G>A
|
c.743G>A
|
p.Arg248Gln
|
probably damaging
|
RPS6KC1 | Mutation | Missense | ENST00000366960.3 |
g.213415059A>G
|
c.2240A>G
|
p.Lys747Arg
|
benign
|
OBSCN | Mutation | Missense | ENST00000284548.11 |
g.228471318G>A
|
c.8852G>A
|
p.Gly2951Asp
|
benign
|
OR2L13 | Mutation | Missense | ENST00000358120.2 |
g.248263191G>A
|
c.514G>A
|
p.Ala172Thr
|
possibly damaging
|
UBXN11 | Mutation | Missense | ENST00000314675.7 |
g.26628211C>T
|
c.74G>A
|
p.Arg25Lys (Splice)
|
benign
|