NT5DC3 | Mutation | In-Frame | ENST00000392876.3 |
g.104186946_104186948del
|
c.1013_1015del
|
p.Lys338del
|
damaging
|
FLII | Mutation | In-Frame | ENST00000327031.4 |
g.18150110_18150112del
|
c.2847_2849del
|
p.Glu950del
|
damaging
|
SUPT20HL1 | Mutation | In-Frame | NM_001136234.1 |
g.24382519_24382536del
|
c.1642_1659del
|
p.Pro548_Ala553del
|
damaging
|
SORBS2 | Mutation | In-Frame | ENST00000284776.7 |
g.186533019_186533021del
|
c.2997_2999del
|
p.Lys999del
|
damaging
|
AMPD1 | Mutation | Missense | ENST00000369538.3 |
g.115238109G>A
|
c.83C>T
|
p.Ser28Leu
|
damaging
|
NPPB | Mutation | Missense | ENST00000376468.3 |
g.11918421G>A
|
c.238C>T
|
p.Arg80Trp
|
possibly damaging
|
MFN2 | Mutation | Missense | ENST00000235329.5 |
g.12064980G>A
|
c.1491G>A
|
p.Met497Ile
|
benign
|
SCNN1D | Mutation | Missense | ENST00000379101.4 |
g.1219428C>T
|
c.422C>T
|
p.Thr141Met
|
benign
|
GLTPD1 | Mutation | Missense | ENST00000343938.4 |
g.1263017G>C
|
c.519G>C
|
p.Glu173Asp
|
benign
|
PRAMEF1 | Mutation | Missense | ENST00000332296.7 |
g.12854528T>C
|
c.752T>C
|
p.Leu251Pro
|
possibly damaging
|
PRDM2 | Mutation | Missense | ENST00000235372.7 |
g.14108437G>A
|
c.4147G>A
|
p.Val1383Met
|
probably damaging
|
POLR3C | Mutation | Missense | ENST00000334163.3 |
g.145597044G>A
|
c.1081C>T
|
p.Arg361Cys
|
probably damaging
|
ANP32E | Mutation | Missense | ENST00000314136.8 |
g.150199042C>A
|
c.579G>T
|
p.Glu193Asp
|
benign
|
NUP210L | Mutation | Missense | ENST00000271854.3 |
g.154026847C>T
|
c.3340G>A
|
p.Val1114Ile
|
benign
|
HAX1 | Mutation | Missense | ENST00000328703.7 |
g.154247666C>T
|
c.593C>T
|
p.Pro198Leu
|
possibly damaging
|
PKLR | Mutation | Missense | ENST00000392414.3 |
g.155270674T>C
|
c.5A>G
|
p.Glu2Gly (Splice)
|
benign
|
PRCC | Mutation | Missense | ENST00000271526.4 |
g.156737907C>T
|
c.344C>T
|
p.Pro115Leu
|
benign
|
FHAD1 | Mutation | Missense | ENST00000358897.4 |
g.15675557C>T
|
c.2300C>T
|
p.Ala767Val
|
possibly damaging
|
SH2D2A | Mutation | Missense | ENST00000368199.3 |
g.156777059C>T
|
c.1081G>A
|
p.Ala361Thr
|
benign
|
VSIG8 | Mutation | Missense | ENST00000368100.1 |
g.159827753C>T
|
c.434G>A
|
p.Arg145Gln
|
probably damaging
|
POGK | Mutation | Missense | ENST00000367875.1 |
g.166816764G>A
|
c.293G>A
|
p.Arg98His
|
possibly damaging
|
DUSP27 | Mutation | Missense | ENST00000271385.5 |
g.167096794C>T
|
c.2426C>T
|
p.Ala809Val
|
benign
|
PADI3 | Mutation | Missense | ENST00000375460.3 |
g.17586111G>C
|
c.131G>C
|
p.Gly44Ala
|
probably damaging
|
XPR1 | Mutation | Missense | ENST00000367590.4 |
g.180849367G>A
|
c.1964G>A
|
p.Arg655His
|
probably damaging
|
PLA2G4A | Mutation | Missense | ENST00000367466.3 |
g.186925434C>A
|
c.1537C>A
|
p.Gln513Lys
|
benign
|