1 |
DEAF1
|
NM_021008.3(DEAF1): c.683T> G (p.Ile228Ser)
|
single nucleotide variant |
Pathogenic |
rs587777406
|
GRCh38 |
Chromosome 11, 686979: 686979 |
2 |
DEAF1
|
NM_021008.3(DEAF1): c.683T> G (p.Ile228Ser)
|
single nucleotide variant |
Pathogenic |
rs587777406
|
GRCh37 |
Chromosome 11, 686979: 686979 |
3 |
DEAF1
|
NM_021008.3(DEAF1): c.791A> C (p.Gln264Pro)
|
single nucleotide variant |
Uncertain significance |
rs587777407
|
GRCh38 |
Chromosome 11, 686871: 686871 |
4 |
DEAF1
|
NM_021008.3(DEAF1): c.791A> C (p.Gln264Pro)
|
single nucleotide variant |
Uncertain significance |
rs587777407
|
GRCh37 |
Chromosome 11, 686871: 686871 |
5 |
DEAF1
|
NM_021008.3(DEAF1): c.670C> T (p.Arg224Trp)
|
single nucleotide variant |
Pathogenic |
rs587777408
|
GRCh38 |
Chromosome 11, 686992: 686992 |
6 |
DEAF1
|
NM_021008.3(DEAF1): c.670C> T (p.Arg224Trp)
|
single nucleotide variant |
Pathogenic |
rs587777408
|
GRCh37 |
Chromosome 11, 686992: 686992 |
7 |
DEAF1
|
NM_021008.3(DEAF1): c.762A> C (p.Arg254Ser)
|
single nucleotide variant |
Pathogenic |
rs587777409
|
GRCh38 |
Chromosome 11, 686900: 686900 |
8 |
DEAF1
|
NM_021008.3(DEAF1): c.762A> C (p.Arg254Ser)
|
single nucleotide variant |
Pathogenic |
rs587777409
|
GRCh37 |
Chromosome 11, 686900: 686900 |
9 |
DEAF1
|
NM_021008.3(DEAF1): c.634G> A (p.Gly212Ser)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs1057519565
|
GRCh37 |
Chromosome 11, 687941: 687941 |
10 |
DEAF1
|
NM_021008.3(DEAF1): c.634G> A (p.Gly212Ser)
|
single nucleotide variant |
Pathogenic/Likely pathogenic |
rs1057519565
|
GRCh38 |
Chromosome 11, 687941: 687941 |
11 |
DEAF1
|
NM_021008.3(DEAF1): c.1123A> G (p.Thr375Ala)
|
single nucleotide variant |
Uncertain significance |
rs1135401947
|
GRCh38 |
Chromosome 11, 679691: 679691 |
12 |
DEAF1
|
NM_021008.3(DEAF1): c.1123A> G (p.Thr375Ala)
|
single nucleotide variant |
Uncertain significance |
rs1135401947
|
GRCh37 |
Chromosome 11, 679691: 679691 |
13 |
DEAF1
|
NM_021008.3(DEAF1): c.913_915delAAG (p.Lys305del)
|
deletion |
Likely pathogenic |
|
GRCh38 |
Chromosome 11, 681045: 681047 |
14 |
DEAF1
|
NM_021008.3(DEAF1): c.737G> C (p.Arg246Thr)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh37 |
Chromosome 11, 686925: 686925 |
15 |
DEAF1
|
NM_021008.3(DEAF1): c.737G> C (p.Arg246Thr)
|
single nucleotide variant |
Likely pathogenic |
|
GRCh38 |
Chromosome 11, 686925: 686925 |
16 |
DEAF1
|
NM_021008.3(DEAF1): c.913_915delAAG (p.Lys305del)
|
deletion |
Likely pathogenic |
|
GRCh37 |
Chromosome 11, 681045: 681047 |
17 |
DEAF1
|
NM_021008.3(DEAF1): c.700T> A (p.Trp234Arg)
|
single nucleotide variant |
Likely pathogenic |
rs1057524157
|
GRCh37 |
Chromosome 11, 686962: 686962 |
18 |
DEAF1
|
NM_021008.3(DEAF1): c.700T> A (p.Trp234Arg)
|
single nucleotide variant |
Likely pathogenic |
rs1057524157
|
GRCh38 |
Chromosome 11, 686962: 686962 |