FRRS1 | Mutation | Missense | ENST00000287474.5 |
g.100181170G>C
|
c.1295C>G
|
p.Pro432Arg
|
probably damaging
|
CLCN6 | Mutation | Missense | ENST00000346436.6 |
g.11889290G>A
|
c.1159G>A
|
p.Val387Met
|
possibly damaging
|
PRDM2 | Mutation | Missense | ENST00000235372.7 |
g.14108437G>A
|
c.4147G>A
|
p.Val1383Met
|
probably damaging
|
ANKRD35 | Mutation | Missense | ENST00000355594.4 |
g.145562029G>A
|
c.1717G>A
|
p.Ala573Thr
|
benign
|
POLR3C | Mutation | Missense | ENST00000334163.3 |
g.145608572A>T
|
c.235T>A
|
p.Cys79Ser
|
benign
|
BOLA1 | Mutation | Missense | ENST00000369150.1 |
g.149871937C>G
|
c.325C>G
|
p.Arg109Gly
|
possibly damaging
|
SLC27A3 | Mutation | Missense | ENST00000368661.3 |
g.153750994G>A
|
c.1553G>A
|
p.Arg518Gln
|
probably damaging
|
GON4L | Mutation | Missense | ENST00000271883.5 |
g.155735220G>C
|
c.4044C>G
|
p.Ile1348Met
|
possibly damaging
|
MEF2D | Mutation | Missense | ENST00000348159.4 |
g.156437790T>C
|
c.1549A>G
|
p.Thr517Ala
|
benign
|
NTRK1 | Mutation | Missense | ENST00000524377.1 |
g.156851255G>A
|
c.2212G>A
|
p.Asp738Asn
|
benign
|
CD5L | Mutation | Missense | ENST00000368174.4 |
g.157803222A>C
|
c.799T>G
|
p.Ser267Ala
|
possibly damaging
|
ATP1A4 | Mutation | Missense | ENST00000368081.4 |
g.160121869T>A
|
c.39T>A
|
p.His13Gln
|
benign
|
COPA | Mutation | Missense | ENST00000241704.7 |
g.160260301T>C
|
c.3596A>G
|
p.Gln1199Arg
|
benign
|
ADCY10 | Mutation | Missense | ENST00000367851.4 |
g.167847771T>C
|
c.1319A>G
|
p.Tyr440Cys
|
probably damaging
|
RC3H1 | Mutation | Missense | ENST00000258349.4 |
g.173934064C>T
|
c.1529G>A
|
p.Arg510Gln
|
probably damaging
|
PAPPA2 | Mutation | Missense | ENST00000367661.3 |
g.176526264G>A
|
c.806G>A
|
p.Arg269Gln
|
possibly damaging
|
ASTN1 | Mutation | Missense | ENST00000361833.2 |
g.177133577A>G
|
c.236T>C
|
p.Val79Ala
|
benign
|
LAMC1 | Mutation | Missense | ENST00000258341.4 |
g.183083801T>A
|
c.1157T>A
|
p.Phe386Tyr
|
benign
|
LAMC2 | Mutation | Missense | ENST00000264144.4 |
g.183194828C>T
|
c.1039C>T
|
p.Arg347Cys
|
probably damaging
|
HMCN1 | Mutation | Missense | ENST00000271588.4 |
g.186031042G>A
|
c.7372G>A
|
p.Val2458Ile
|
benign
|
IGFN1 | Mutation | Missense | ENST00000335211.4 |
g.201196334T>C
|
c.11111T>C
|
p.Ile3704Thr (Splice)
|
benign
|
CR1L | Mutation | Missense | ENST00000508064.2 |
g.207850773C>T
|
c.137C>T
|
p.Pro46Leu
|
benign
|
PTPN14 | Mutation | Missense | ENST00000366956.5 |
g.214557892C>T
|
c.1306G>A
|
p.Val436Met
|
probably damaging
|
OBSCN | Mutation | Missense | ENST00000570156.2 |
g.228447336C>A
|
c.4996C>A
|
p.L1666M
|
NA
|
ASAP3 | Mutation | Missense | ENST00000336689.3 |
g.23777981T>C
|
c.464A>G
|
p.Glu155Gly
|
probably damaging
|