No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
---|
1 | 2 | 219919305 | C | -G | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 1 |
2 | 2 | 219919629 | A | G | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 2 |
3 | 2 | 219919730 | C | T | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 3 |
4 | 2 | 219919754 | G | C | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | - | - | 3'_UTR | rs3099 | 0.6355 | - | - | - | - | - | hom | 249 |
5 | 2 | 219919754 | G | C | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | - | - | 3'_UTR | rs3099 | 0.6355 | - | - | - | - | - | het | 320 |
6 | 2 | 219919846 | T | A | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 5 |
7 | 2 | 219919904 | C | A | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | - | - | 3'_UTR | rs76709099 | 0.0426 | - | - | - | - | - | het | 3 |
8 | 2 | 219919971 | C | G | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.1194G>C | p.E398D | non-syn | NA | - | - | - | TOLERATED | B | - | het | 2 |
9 | 2 | 219920037 | A | G | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.1128T>C | p.T376T | syn | rs394452 | 0.803 | G=6852/A=1748;G=4222/A=184;G=11074/A=1932 | - | - | - | - | het | 256 |
10 | 2 | 219920037 | A | G | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.1128T>C | p.T376T | syn | rs394452 | 0.803 | G=6852/A=1748;G=4222/A=184;G=11074/A=1932 | - | - | - | - | hom | 570 |
11 | 2 | 219920196 | G | A | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.969C>T | p.H323H | syn | rs76578869 | 0.0541 | A=4/G=8594;A=256/G=4148;A=260/G=12742 | - | - | - | - | het | 4 |
12 | 2 | 219920240 | C | T | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.925G>A | p.V309M | non-syn | NA | - | - | - | TOLERATED | B | - | het | 1 |
13 | 2 | 219920274 | G | A | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.891C>T | p.H297H | syn | NA | - | - | lod=194:532 | - | - | - | het | 1 |
14 | 2 | 219920292 | C | T | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.873G>A | p.R291R | syn | rs149554120 | 0.007 | T=23/C=8575;T=1/C=4401;T=24/C=12976 | lod=26:317 | - | - | - | het | 1 |
15 | 2 | 219920307 | C | T | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.858G>A | p.P286P | syn | rs146055831 | 0.0065 | T=1/C=8599;T=19/C=4387;T=20/C=12986 | - | - | - | - | het | 1 |
16 | 2 | 219920308 | G | A | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.857C>T | p.P286L | non-syn | rs140093604 | 0.0041 | A=8/G=8592;A=1/G=4405;A=9/G=12997 | - | TOLERATED | D | - | het | 1 |
17 | 2 | 219920346 | G | A | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.819C>T | p.P273P | syn | rs61747697 | 0.0247 | A=2/G=8598;A=114/G=4292;A=116/G=12890 | lod=16:265 | - | - | - | het | 7 |
18 | 2 | 219920410 | T | C | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.755A>G | p.H252R | non-syn | rs76479554 | 0.0636 | C=4/T=8596;C=255/T=4151;C=259/T=12747 | - | TOLERATED | B | - | het | 5 |
19 | 2 | 219920412 | A | G | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.753T>C | p.P251P | syn | rs3731881 | 0.6103 | G=5732/A=2868;G=1999/A=2407;G=7731/A=5275 | lod=26:317 | - | - | - | hom | 414 |
20 | 2 | 219920412 | A | G | ENST00000295731 | ENSG00000163501 | 219919142 | 219925189 | ENSP00000295731 | IHH | -1 | IHH_HUMAN | c.753T>C | p.P251P | syn | rs3731881 | 0.6103 | G=5732/A=2868;G=1999/A=2407;G=7731/A=5275 | lod=26:317 | - | - | - | het | 452 |