TABLE 4.
PDVs | Contacts | |||||
---|---|---|---|---|---|---|
Variantb | Syndromec | Mutation | Syndromed | Significance | e | f |
IS1M138I | AF | IS4T229S | BrS1 | VUS | S | |
T | DCM1 | IS4-S5V232I | A, BrS1, CVP | CIP | S | |
IS1I141N | BrS1 | IS4T229S | BrS1 | VUS | S | |
F | NS | IS4R225Q | BrS1, LQT3, More | CIP | S | |
W | BrS1, LQT3, More | P/LP | S | |||
IS4A226D | BrS1 | VUS | S | |||
V | BrS1, LQT3, More | CIP | ||||
IS4V232I | A, BrS1, CVP | CIP | ||||
IS2R179P | BrS1 | IS1L128P | BrS1 | VUS | 4 | |
Q | BrS1 | IS2-S3T187S | BrS1 | VUS | ||
I | BrS1 | NP | ||||
A | BrS1, CA | CIP | ||||
IS2-S3T187S | BrS1 | IS2R179P | BrS1 | VUS | 4 | |
I | BrS1, NP | Q | BrS1 | VUS | ||
A | BrS1 | |||||
IS3D197G | BrS1 | IS2K175D | BrS1 | NP | ||
H | BrS1 | IS2E171G | BrS1 | VUS | ||
Y | DCM | |||||
IIS3E795K | BrS1 | IIS4L807P | BrS1, NP | VUS | S | |
IIS4-S5L825P | BrS1 | IIS4F816L | A | VUS | S | |
Y | LQT3 | NP | S | |||
IIIS5V1340L | CVP | VUS | ||||
I | NP, BrS1, A | VUS | ||||
IIS5I848F | A,BrS1, LQT31 | IS4A226V | BrS1, LQT3, More | CIP | S | |
D | BrS1 | VUS | S | |||
IS4I230T | ||||||
IIIS1A1221V | A, BrS1 | IIIS2L1239P | BrS1 | NP | ||
IIIS4R1306L | CVP | IIIS2D1243E | BrS1 | VUS | S | |
H | NP, BrS1 | NG | BrS1, More | VUS | S | |
C | A | IIIS2E1225K | BrS1 | VUS | S | |
S | BrS1 | LQT3, BrS1, A | VUS | S | ||
IIIS4R1316L | BrS1 | IIIS1E1208K | A, NP | VUS | S | |
Q | BrS1 | |||||
IVS2E1574K | BrS11,3 | IVS1I1534S | LQT3 | VUS | S | |
IVS2C1575Y | A, BrS1 | IVS3F1596I | LQT3, BrS1, More | VUS | ||
S | A | |||||
IVS3N1592Y | BrS1 | IVS4R1638P | NP | LP | ||
IVS4-S5I1643L | NP | IVS3I1637T | NS | VUS |
a-e footnotes to Table 1.