|
c.6_9dup (p.L4DfsX39)
MYO7A
[14]
|
Acceptor |
Score for acceptor siteincreases from 77 to 82 |
The WT consensus sequenceis not recognized |
One donor site is not recognized |
New acceptor sites are created and other acceptor sites are not recognized |
3 |
|
c.470G>A (p.S157N)
MYO7A
[14]
|
Donor |
Score for the main donorsite decreases from 93 to 60 |
Score for donor site decreasesand a new acceptor site iscreated |
The main donor site isnot recognized |
The main donor site isnot recognized |
4 |
|
c.640G>A (p.G214R)
MYO7A
[22]
|
Acceptor |
Neutral |
The WT consensus sequenceis not recognized |
A new acceptor site is created |
Neutral |
1 |
|
c.721C>G (p.R241G)
MYO7A
[15]
|
Donor |
Three new donor siteare created |
A new acceptor siteis created |
Score for the main acceptor site decreases from 81 to 59 |
A new donor site is created |
4 |
|
c.1097T>C (p.L366P)
MYO7A
[15]
|
Acceptor |
Score for the main acceptorsite decreases from 83 to 77 |
Score for the acceptorsite decreases |
A new acceptor site is created |
Neutral |
3 |
|
c.1342_1343delAG (p.S448LfsX2)
MYO7A
[14]
|
Donor |
The main donor site is notrecognized |
The main donor site and theacceptor site arenot recognized |
The main donor site isnot recognized |
The main donor site isnot recognized |
4 |
|
c.3508G>A (p.E1170K)
MYO7A
[23]
|
Acceptor |
Score for the main acceptorsite decreases from 85 to 77 |
Neutral |
Neutral |
Neutral |
1 |
|
c.3652G>A (p.G1218R)
MYO7A
[15]
|
Acceptor |
A new acceptor siteis created |
A new acceptor siteis created |
A new acceptor site is created |
A new acceptor site is created |
4 |
|
c.5581C>T (p.R1861X)
MYO7A
[22]
|
Acceptor |
Score for the main acceptorsite decreases from 77 to 72 |
Neutral |
Neutral |
Neutral |
1 |
|
c.1086-12G>A
USH1C
[17]
|
Acceptor |
A new acceptor siteis created |
Score for acceptor sitedecreases |
Score for the main acceptor site decreases from 48 to 45 |
The main acceptor site isnot recognized |
4 |
|
c.2289+1G>A
CDH23
[24]
|
Donor |
The main donor site isnot recognized |
The main donor site is notrecognized |
The main donor site isnot recognized |
The main donor site isnot recognized |
4 |
|
c.6049G>A (p.G2017S)
CDH23
[25]
|
Donor |
Neutral |
The main donor site is notrecognized |
The main donor site isnot recognized |
Score for the maindonor site decreasesfrom 89 to 84 |
3 |
|
c.8722+1delG
CDH23
[16]
|
Donor |
Neutral |
The main donor site is notrecognized |
The main donor site isnot recognized |
The main donor site isnot recognized |
3 |
|
c.521A>G (p.N174S)
PCDH15
[18]
|
Acceptor |
Score for the main acceptorsite decreases from 92 to 87 |
The main acceptor site isnot recognized |
Neutral |
Neutral |
2 |
|
c.1304_1305insC (p.T436YfsX12)
PCDH15
[18]
|
Donor |
Score for the main donorsite decreases from 63 to 51 |
The WT consensus sequenceis not recognized |
Score for the maindonor site decreasesfrom 99 to 94 |
Score for the main donor site decreases from 81 to 79 |
3 |
|
c.1737C>G (p.Y579X)
PCDH15
[18]
|
Donor |
Score for the main donorsite decreases from 52 to 37 |
The main donor siteis not recognized |
Neutral |
Neutral |
2 |
|
c.2868+5G>A
PCDH15
[18]
|
Donor |
The main donor site is notrecognized and a newdonor site is created |
The main donor siteis not recognized. |
The main donor site isnot recognized. |
The main donor site isnot recognized. |
4 |
|
c.3717+2dupTT
PCDH15
Present study
|
Donor |
The main donor site isnot recognized |
The main donor siteis not recognized |
The main donor site isnot recognized |
The main donor site isnot recognized |
4 |
