1 |
LHX3
|
NM_178138.5(LHX3): c.332A> G (p.Tyr111Cys)
|
single nucleotide variant |
Pathogenic |
rs104894117
|
GRCh37 |
Chromosome 9, 139091646: 139091646 |
2 |
LHX3
|
NM_178138.5(LHX3): c.332A> G (p.Tyr111Cys)
|
single nucleotide variant |
Pathogenic |
rs104894117
|
GRCh38 |
Chromosome 9, 136199800: 136199800 |
3 |
LHX3
|
NM_178138.5(LHX3): c.452_454+20del23
|
deletion |
Pathogenic |
rs587776711
|
GRCh37 |
Chromosome 9, 139091504: 139091526 |
4 |
LHX3
|
NM_178138.5(LHX3): c.452_454+20del23
|
deletion |
Pathogenic |
rs587776711
|
GRCh38 |
Chromosome 9, 136199658: 136199680 |
5 |
LHX3
|
NM_178138.5(LHX3): c.96delT (p.Gly33Alafs)
|
deletion |
Pathogenic |
rs587776712
|
GRCh38 |
Chromosome 9, 136200737: 136200737 |
6 |
LHX3
|
NM_178138.5(LHX3): c.96delT (p.Gly33Alafs)
|
deletion |
Pathogenic |
rs587776712
|
GRCh37 |
Chromosome 9, 139092583: 139092583 |
7 |
LHX3
|
NM_178138.5(LHX3): c.629C> T (p.Ala210Val)
|
single nucleotide variant |
Pathogenic |
rs137854503
|
GRCh37 |
Chromosome 9, 139090644: 139090644 |
8 |
LHX3
|
NM_178138.5(LHX3): c.629C> T (p.Ala210Val)
|
single nucleotide variant |
Pathogenic |
rs137854503
|
GRCh38 |
Chromosome 9, 136198798: 136198798 |
9 |
LHX3
|
NM_178138.5(LHX3): c.287_288delGCinsTCCT (p.Gly96Valfs)
|
indel |
Pathogenic |
rs137854504
|
GRCh37 |
Chromosome 9, 139091690: 139091691 |
10 |
LHX3
|
NM_178138.5(LHX3): c.287_288delGCinsTCCT (p.Gly96Valfs)
|
indel |
Pathogenic |
rs137854504
|
GRCh38 |
Chromosome 9, 136199844: 136199845 |
11 |
LHX3
|
NC_000009.12: g.(?_136197325)_(136205012_?)del
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 9, 136197325: 136205012 |
12 |
LHX3
|
NM_178138.5(LHX3): c.672G> A (p.Trp224Ter)
|
single nucleotide variant |
Pathogenic |
rs137854505
|
GRCh37 |
Chromosome 9, 139090601: 139090601 |
13 |
LHX3
|
NM_178138.5(LHX3): c.672G> A (p.Trp224Ter)
|
single nucleotide variant |
Pathogenic |
rs137854505
|
GRCh38 |
Chromosome 9, 136198755: 136198755 |
14 |
LHX3
|
NG_008097.1: g.8826_11912del3087
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 9, 136198198: 136201284 |
15 |
LHX3
|
NM_178138.5(LHX3): c.133A> T (p.Lys45Ter)
|
single nucleotide variant |
Pathogenic |
rs137854506
|
GRCh37 |
Chromosome 9, 139092546: 139092546 |
16 |
LHX3
|
NM_178138.5(LHX3): c.133A> T (p.Lys45Ter)
|
single nucleotide variant |
Pathogenic |
rs137854506
|
GRCh38 |
Chromosome 9, 136200700: 136200700 |