AMER2 | Mutation | In-Frame | ENST00000515384.1 |
g.25744837_25744838ins21
|
c.920_921insAAGCCCCGGGCACCCCCCGAG
|
p.Glu307_Pro308ins7
|
damaging
|
UGGT2 | Mutation | In-Frame | ENST00000376747.3 |
g.96555122_96555127del
|
c.2483_2488del
|
p.Ile828_Lys829del
|
damaging
|
ZNF260 | Mutation | In-Frame | ENST00000523638.1 |
g.37005316_37005321del
|
c.820_825del
|
p.Lys274_Pro275del
|
damaging
|
MAST4 | Mutation | In-Frame | ENST00000403625.2 |
g.66461184_66461186del
|
c.6177_6179del
|
p.Ser2060del
|
damaging
|
DTNBP1 | Mutation | In-Frame | ENST00000338950.5 |
g.15663043_15663047del
|
c.54_56+2del
|
p.Gly19del
|
damaging
|
OR6B1 | Mutation | In-Frame | ENST00000408922.2 |
g.143701933_143701935del
|
c.844_846del
|
p.Ser282del
|
damaging
|
MTDH | Mutation | In-Frame | ENST00000336273.3 |
g.98657013_98657015del
|
c.279_281del
|
p.Ala94del
|
damaging
|
FRRS1 | Mutation | Missense | ENST00000287474.5 |
g.100207773C>G
|
c.390G>C
|
p.Trp130Cys
|
probably damaging
|
COL11A1 | Mutation | Missense | ENST00000370096.3 |
g.103444283G>A
|
c.2735C>T
|
p.Pro912Leu
|
possibly damaging
|
NBPF7 | Mutation | Missense | NM_001047980.2 |
g.120384206A>G
|
c.356T>C
|
p.Val119Ala
|
benign
|
LCE1C | Mutation | Missense | ENST00000368768.1 |
g.152777767C>T
|
c.188G>A
|
p.Ser63Asn
|
benign
|
NPR1 | Mutation | Missense | ENST00000368680.3 |
g.153651622G>T
|
c.38G>T
|
p.Arg13Leu
|
benign
|
OR6K6 | Mutation | Missense | ENST00000368144.2 |
g.158724723T>A
|
c.118T>A
|
p.Phe40Ile
|
possibly damaging
|
LY9 | Mutation | Missense | ENST00000263285.6 |
g.160784237C>T
|
c.758C>T
|
p.Thr253Met
|
benign
|
EPHA2 | Mutation | Missense | ENST00000358432.5 |
g.16464614G>A
|
c.1046C>T
|
p.Thr349Met
|
possibly damaging
|
RASAL2 | Mutation | Missense | ENST00000462775.1 |
g.178421723G>A
|
c.1501G>A
|
p.Asp501Asn
|
probably damaging
|
CEP350 | Mutation | Missense | ENST00000367607.3 |
g.179989635A>C
|
c.2726A>C
|
p.Asp909Ala
|
benign
|
LHX4 | Mutation | Missense | ENST00000263726.2 |
g.180240618C>G
|
c.555C>G
|
p.His185Gln
|
probably damaging
|
PIK3C2B | Mutation | Missense | ENST00000367187.3 |
g.204413520A>G
|
c.2711T>C
|
p.Val904Ala
|
probably damaging
|
HSPG2 | Mutation | Missense | ENST00000374695.3 |
g.22155354C>A
|
c.12211G>T
|
p.A4071S
|
possibly damaging
|
CCSAP | Mutation | Missense | ENST00000284617.2 |
g.229462631T>C
|
c.490A>G
|
p.Arg164Gly
|
probably damaging
|
NID1 | Mutation | Missense | ENST00000264187.6 |
g.236143150T>G
|
c.3481A>C
|
p.Lys1161Gln
|
possibly damaging
|
KIF26B | Mutation | Missense | ENST00000407071.2 |
g.245850456A>G
|
c.4171A>G
|
p.Ile1391Val
|
benign
|
SEPN1 | Mutation | Missense | ENST00000361547.2 |
g.26140628T>C
|
c.1561T>C
|
p.Phe521Leu
|
probably damaging
|
ZDHHC18 | Mutation | Missense | ENST00000374142.4 |
g.27176861C>T
|
c.716C>T
|
p.Ala239Val
|
probably damaging
|