| Sample ID . | Gene . | RefSeq ID . | Location . | Base change: Amino Acid Alteration . | Type . | Min depth . | Function . | dbSNP ID . | 1000G . | gnomAD . | gnomAD East Asians . | SIFT . | Polyphen2 . | Mutation taster . | CADD . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F1: II-5 | KCTD19 | NM_001100915 | Chr16: 67337064 | c.G628A: p.E210K | Homozygous | 56 | Missense | NA | NA | NA | NA | D | D | D | 33 |
| F2: II-1 | KCTD19 | NM_001100915 | Chr16: 67333359 | c.C893T: p.P298L | Homozygous | 250 | Missense | NA | NA | 0.00001603 | NA | D | D | D | 33 |
| F3: II-1 | KCTD19 | NM_001100915 | Chr16: 67325650 | c.G2309A: p.G770D | Homozygous | 150 | Missense | NA | NA | NA | NA | D | D | D | 28 |
| Sample ID . | Gene . | RefSeq ID . | Location . | Base change: Amino Acid Alteration . | Type . | Min depth . | Function . | dbSNP ID . | 1000G . | gnomAD . | gnomAD East Asians . | SIFT . | Polyphen2 . | Mutation taster . | CADD . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F1: II-5 | KCTD19 | NM_001100915 | Chr16: 67337064 | c.G628A: p.E210K | Homozygous | 56 | Missense | NA | NA | NA | NA | D | D | D | 33 |
| F2: II-1 | KCTD19 | NM_001100915 | Chr16: 67333359 | c.C893T: p.P298L | Homozygous | 250 | Missense | NA | NA | 0.00001603 | NA | D | D | D | 33 |
| F3: II-1 | KCTD19 | NM_001100915 | Chr16: 67325650 | c.G2309A: p.G770D | Homozygous | 150 | Missense | NA | NA | NA | NA | D | D | D | 28 |
The human genome assembly version GRCh37/hg19 was used in this study. The variant is considered deleterious when its CADD score >4. NA, not available; 1000G, 1000 Genomes project; D, damaging/disease causing.
| Sample ID . | Gene . | RefSeq ID . | Location . | Base change: Amino Acid Alteration . | Type . | Min depth . | Function . | dbSNP ID . | 1000G . | gnomAD . | gnomAD East Asians . | SIFT . | Polyphen2 . | Mutation taster . | CADD . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F1: II-5 | KCTD19 | NM_001100915 | Chr16: 67337064 | c.G628A: p.E210K | Homozygous | 56 | Missense | NA | NA | NA | NA | D | D | D | 33 |
| F2: II-1 | KCTD19 | NM_001100915 | Chr16: 67333359 | c.C893T: p.P298L | Homozygous | 250 | Missense | NA | NA | 0.00001603 | NA | D | D | D | 33 |
| F3: II-1 | KCTD19 | NM_001100915 | Chr16: 67325650 | c.G2309A: p.G770D | Homozygous | 150 | Missense | NA | NA | NA | NA | D | D | D | 28 |
| Sample ID . | Gene . | RefSeq ID . | Location . | Base change: Amino Acid Alteration . | Type . | Min depth . | Function . | dbSNP ID . | 1000G . | gnomAD . | gnomAD East Asians . | SIFT . | Polyphen2 . | Mutation taster . | CADD . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F1: II-5 | KCTD19 | NM_001100915 | Chr16: 67337064 | c.G628A: p.E210K | Homozygous | 56 | Missense | NA | NA | NA | NA | D | D | D | 33 |
| F2: II-1 | KCTD19 | NM_001100915 | Chr16: 67333359 | c.C893T: p.P298L | Homozygous | 250 | Missense | NA | NA | 0.00001603 | NA | D | D | D | 33 |
| F3: II-1 | KCTD19 | NM_001100915 | Chr16: 67325650 | c.G2309A: p.G770D | Homozygous | 150 | Missense | NA | NA | NA | NA | D | D | D | 28 |
The human genome assembly version GRCh37/hg19 was used in this study. The variant is considered deleterious when its CADD score >4. NA, not available; 1000G, 1000 Genomes project; D, damaging/disease causing.
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