Research Article
Whole-Exome Sequencing Identifies a Novel TRPM4 Mutation in a Chinese Family with Atrioventricular Block
Table 2
Variants identified by WES in combination with cardiomyopathy-related gene filter in the family.
| | CHR | POS | RB | AB | Gene name | AA change | MutationTaster | PolyPhen-2 | SIFT | ACMG statement |
| | chr1 | 100342136 | G | A | AGL | AGL:NM_000645:exon9:c.G1355A:p.R452Q | Disease causing (1) | Probably damaging (0.902) | Tolerated (0.065) | BS4 | | chr1 | 228527780 | C | T | OBSCN | OBSCN:NM_001098623:exon70:c.C17393T:p.T5798M | Polymorphism (0.977) | Probably damaging (0.877) | Damaging (0.024) | BS4 | | chr6 | 170598799 | G | A | DLL1 | DLL1:NM_005618:exon2:c.C152T:p.P51L | Polymorphism (0.998) | Benign (0.037) | Tolerated (0.71) | BP4 | | chr7 | 154379618 | G | C | DPP6 | DPP6:NM_001290253:exon6:c.G886C:p.V296L | Disease causing (1) | Benign (0.033) | Damaging (0) | BS4 | | chr11 | 2906376 | A | C | CDKN1C | CDKN1C:NM_000076:exon1:c.T344G:p.V115G | Polymorphism (1) | Benign (0.011) | Tolerated (0.089) | BP4 | | chr12 | 116445394 | T | C | MED13L | MED13L:NM_015335:exon11:c.A2060G:p.Q687R | Polymorphism (0.902) | Benign (0.001) | Tolerated (0.859) | BP4 | | chr19 | 49703979 | C | T | TRPM4 | TRPM4:NM_001195227:exon18:c.C2455T:p.R819C | Disease causing (1) | Damaging (1) | Damaging (0) | PM2, PP1, PP3, PM1 | | chr20 | 10393636 | G | A | MKKS | MKKS:NM_018848:exon3:c.C527T:p.A176V | Polymorphism (1) | Benign (0.011) | Tolerated (0.256) | BP4 | | chr20 | 10393860 | G | T | MKKS | MKKS:NM_018848:exon3:c.C303A:p.N101K | Polymorphism (0.965) | Benign (0.324) | Tolerated (0.216) | BP4 | | chr21 | 43531589 | G | C | UMODL1 | UMODL1:NM_001199527:exon11:c.G2041C:p.D681H | Polymorphism (1) | Benign (0.007) | Damaging (0.011) | BP4 |
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CHR = chromosome; POS = position; RB = reference sequence base; AB = alternative base identified.
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