Mutations List
Please return to Search Results/Clinical Outcomes page to search for individual patient results.
H773dup
20
Insertion - In frame
H773dup, p.H773dup, c.2317_2319dup
H773dup3
20
Insertion - In frame
H773dup3, p.H773dup3, His773dup3, H773dupH Exon 20
H773L
20
Substitution - Missense
H773L, p.H773L, His773Leu, c.2318A>T
H835L
21
Substitution - Missense
H835L, p.H835L, His835Leu, c.2504A>T
H870R
21
Substitution - Missense
H870R, p.H870R, His870Arg, c.2609A>G
I706T
18
Substitution - Missense
I706T, p.I706T, Ile706Thr
I740V
19
Substitution - Missense
I740V, p.I740V, Ile740Val, c.2218A>G
Ins20
Insertion - Unknown
Ins20
K716E
18
Substitution - Missense
K716E, p.K716E, Lys716Glu, c.2146A>G
K739_1744dup6
Duplication - Unknown
K739_1744dup6, p.K739_1744dup6, Lys739_1744dup6
K745_E746insIPVAIK
19
K745_E746insIPVAIK, c.2217_2234dup
L50R
2
Substitution - Missense
L50R, p.L50R, Leu50Arg
L62R
2
Substitution - Missense
L62R, p.L62R, Leu62Arg, c.185T>G
L718Q
18
Substitution - Missense
L718Q, p.L718Q, Leu718Gln, c.2153T>A
L718V
18
Substitution - Missense
L718V, p.L718V, Leu718Val
L730R
19
Substitution - Missense
L730R, p.L730R, Leu730Arg, c.2189T>G
L747_P753>Q
19
Deletion - Unknown
L747_P753>Q, p.L747_P753>Q, Leu747_Pro753>Gln
L747P
19
Substitution - Missense
L747P, p.L747P, Leu747Pro, c.2239_2240TT>CC
L747S
19
Substitution - Missense
L747S, p.L747S, Leu747Ser, c.2240T>C
L747V
19
Substitution - Missense
L747V, p.L747V, Leu747Val
