Variants Identified in Sequencing of KCNJ18 in the Current Study and Their Genotypic Distribution in Participants With TPP, Participants With Graves Disease Without TPP, and Healthy Control Subjects
| . | . | . | TPP (n = 13) . | Graves Diseasea (n = 8) . | Control (n = 8) . | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNV . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | 9 . | 10 . | 11 . | 12 . | 13 . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | ||
| SNV1 | 116A>G | R39Q | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| SNV2 | 119A>G | R40H | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| SNV3 | 167A>C | A56Q | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| SNV4 | 298G>A | V100I | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 |
| SNV5 | 433G>A | G145S | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 |
| SNV6 | 745G>A | I249V | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| . | . | . | TPP (n = 13) . | Graves Diseasea (n = 8) . | Control (n = 8) . | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNV . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | 9 . | 10 . | 11 . | 12 . | 13 . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | ||
| SNV1 | 116A>G | R39Q | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| SNV2 | 119A>G | R40H | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| SNV3 | 167A>C | A56Q | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| SNV4 | 298G>A | V100I | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 |
| SNV5 | 433G>A | G145S | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 |
| SNV6 | 745G>A | I249V | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
Variant numbers: 1, major allele; 2, minor allele.
Graves disease without TPP episode.
Variants Identified in Sequencing of KCNJ18 in the Current Study and Their Genotypic Distribution in Participants With TPP, Participants With Graves Disease Without TPP, and Healthy Control Subjects
| . | . | . | TPP (n = 13) . | Graves Diseasea (n = 8) . | Control (n = 8) . | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNV . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | 9 . | 10 . | 11 . | 12 . | 13 . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | ||
| SNV1 | 116A>G | R39Q | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| SNV2 | 119A>G | R40H | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| SNV3 | 167A>C | A56Q | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| SNV4 | 298G>A | V100I | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 |
| SNV5 | 433G>A | G145S | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 |
| SNV6 | 745G>A | I249V | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| . | . | . | TPP (n = 13) . | Graves Diseasea (n = 8) . | Control (n = 8) . | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNV . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | 9 . | 10 . | 11 . | 12 . | 13 . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | 8 . | ||
| SNV1 | 116A>G | R39Q | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| SNV2 | 119A>G | R40H | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| SNV3 | 167A>C | A56Q | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
| SNV4 | 298G>A | V100I | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 |
| SNV5 | 433G>A | G145S | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 |
| SNV6 | 745G>A | I249V | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/1 | 2/2 | 2/2 | 1/1 | 1/1 | 1/1 | 1/1 | 1/2 | 1/1 | 1/2 |
Variant numbers: 1, major allele; 2, minor allele.
Graves disease without TPP episode.
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