DNAH17 | Mutation | In-Frame | NM_173628.3 |
g.76506522_76506527del
|
c.4175_4180del
|
p.Ser1392_Glu1394delinsLys
|
damaging
| Huh7 |
DNAH17 | Mutation | Missense | NM_173628.3 |
g.76482086C>T
|
c.7231G>A
|
p.Asp2406Asn
|
damaging
| B1 |
DNAH17 | Mutation | Missense | ENST00000389840.5 |
g.76526474G>A
|
c.3235C>T
|
p.Arg1079Cys
|
damaging
| SNU398 |
DNAH17 | Mutation | Missense | NM_173628.3 |
g.76490800G>A
|
c.6145C>T
|
p.Arg2044Trp
|
damaging
| SNU449 |
DNAH17 | Mutation | Missense | NM_173628.3 |
g.76506520C>G
|
c.4182G>C
|
p.Glu1391Asp
|
damaging
| Huh7 |
DNAH17 | Mutation | Missense | NM_173628.3 |
g.76447592C>T
|
c.10693G>A
|
p.Ala3560Thr
|
damaging
| PLC.PRF5 |
DNAH17 | Mutation | Missense | NM_173628.3 |
g.76457765G>A
|
c.9200C>T
|
p.Ala3062Val
|
damaging
| PLC.PRF5 |
DNAH17 | Mutation | Missense | NM_173628.3 |
g.76490152A>C
|
c.6374T>G
|
p.Phe2120Cys
|
damaging
| PLC.PRF5 |
DNAH17 | Mutation | Missense | NM_173628.3 |
g.76491052G>A
|
c.6031C>T
|
p.Leu2006Phe
|
damaging
| HLE |
DNAH17 | Mutation | Missense | NM_173628.3 |
g.76491052G>A
|
c.6031C>T
|
p.Leu2006Phe
|
damaging
| HLF |
DNAH17 | Mutation | Truncating | ENST00000389840.5 |
g.76554338_76554341del
|
c.2032-5_2032-2del
|
p.L380_splice
|
damaging
| Mahlavu |