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 |
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1 | X | 138612942 | A | T | ENST00000218099 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000218099 | F9 | 1 | FA9_HUMAN | c.19A>T | p.I7F | non-syn | rs150190385 | 0.00191 | T=9/A=6719;T=1/A=3834;T=10/A=10553 | - | DAMAGING | B | HGMD | het | 2 |
2 | X | 138612942 | A | T | ENST00000218099 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000218099 | F9 | 1 | FA9_HUMAN | c.19A>T | p.I7F | non-syn | rs150190385 | 0.00191 | T=9/A=6719;T=1/A=3834;T=10/A=10553 | - | DAMAGING | B | HGMD | hom | 1 |
3 | X | 138612942 | A | T | ENST00000394090 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000377650 | F9 | 1 | - | c.19A>T | p.I7F | non-syn | rs150190385 | 0.00191 | T=9/A=6719;T=1/A=3834;T=10/A=10553 | - | DAMAGING | B | HGMD | het | 2 |
4 | X | 138612942 | A | T | ENST00000394090 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000377650 | F9 | 1 | - | c.19A>T | p.I7F | non-syn | rs150190385 | 0.00191 | T=9/A=6719;T=1/A=3834;T=10/A=10553 | - | DAMAGING | B | HGMD | hom | 1 |
5 | X | 138612942 | A | T | ENST00000479617 | ENSG00000101981 | 138612917 | 138645617 | - | F9 | 1 | - | c.26A>T | p.D9V | non-syn | rs150190385 | 0.00191 | T=9/A=6719;T=1/A=3834;T=10/A=10553 | - | DAMAGING | B | HGMD | het | 2 |
6 | X | 138612942 | A | T | ENST00000479617 | ENSG00000101981 | 138612917 | 138645617 | - | F9 | 1 | - | c.26A>T | p.D9V | non-syn | rs150190385 | 0.00191 | T=9/A=6719;T=1/A=3834;T=10/A=10553 | - | DAMAGING | B | HGMD | hom | 1 |
7 | X | 138619169 | T | G | ENST00000218099 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000218099 | F9 | 1 | FA9_HUMAN | c.89T>G | p.V30G | non-syn | NA | - | - | lod=47:381 | DAMAGING | D | - | het | 1 |
8 | X | 138619169 | T | G | ENST00000394090 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000377650 | F9 | 1 | - | c.89T>G | p.V30G | non-syn | NA | - | - | lod=47:381 | DAMAGING | D | - | het | 1 |
9 | X | 138619169 | T | G | ENST00000479617 | ENSG00000101981 | 138612917 | 138645617 | - | F9 | 1 | - | c.96T>G | p.S32R | non-syn | NA | - | - | lod=47:381 | DAMAGING | D | - | het | 1 |
10 | X | 138619330 | A | G | ENST00000218099 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000218099 | F9 | 1 | FA9_HUMAN | c.250A>G | p.T84A | non-syn | rs201120367 | - | G=1/A=6727;G=0/A=3835;G=1/A=10562 | lod=192:531 | DAMAGING | B | HGMD | het | 1 |
11 | X | 138619330 | A | G | ENST00000218099 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000218099 | F9 | 1 | FA9_HUMAN | c.250A>G | p.T84A | non-syn | rs201120367 | - | G=1/A=6727;G=0/A=3835;G=1/A=10562 | lod=192:531 | DAMAGING | B | HGMD | hom | 1 |
12 | X | 138619330 | A | G | ENST00000394090 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000377650 | F9 | 1 | - | c.250A>G | p.T84A | non-syn | rs201120367 | - | G=1/A=6727;G=0/A=3835;G=1/A=10562 | lod=192:531 | DAMAGING | B | HGMD | het | 1 |
13 | X | 138619330 | A | G | ENST00000394090 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000377650 | F9 | 1 | - | c.250A>G | p.T84A | non-syn | rs201120367 | - | G=1/A=6727;G=0/A=3835;G=1/A=10562 | lod=192:531 | DAMAGING | B | HGMD | hom | 1 |
14 | X | 138619330 | A | G | ENST00000479617 | ENSG00000101981 | 138612917 | 138645617 | - | F9 | 1 | - | - | - | +15bp 5'_splice_site | rs201120367 | - | G=1/A=6727;G=0/A=3835;G=1/A=10562 | lod=192:531 | DAMAGING | B | HGMD | het | 1 |
15 | X | 138619330 | A | G | ENST00000479617 | ENSG00000101981 | 138612917 | 138645617 | - | F9 | 1 | - | - | - | +15bp 5'_splice_site | rs201120367 | - | G=1/A=6727;G=0/A=3835;G=1/A=10562 | lod=192:531 | DAMAGING | B | HGMD | hom | 1 |
16 | X | 138623355 | A | G | ENST00000218099 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000218099 | F9 | 1 | FA9_HUMAN | - | - | +7bp 5'_splice_site | rs6049 | 0.1161 | G=4/A=6724;G=514/A=3321;G=518/A=10045 | - | - | - | - | het | 4 |
17 | X | 138623355 | A | G | ENST00000218099 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000218099 | F9 | 1 | FA9_HUMAN | - | - | +7bp 5'_splice_site | rs6049 | 0.1161 | G=4/A=6724;G=514/A=3321;G=518/A=10045 | - | - | - | - | hom | 4 |
18 | X | 138623355 | A | G | ENST00000479617 | ENSG00000101981 | 138612917 | 138645617 | - | F9 | 1 | - | - | - | +7bp 5'_splice_site | rs6049 | 0.1161 | G=4/A=6724;G=514/A=3321;G=518/A=10045 | - | - | - | - | het | 4 |
19 | X | 138623355 | A | G | ENST00000479617 | ENSG00000101981 | 138612917 | 138645617 | - | F9 | 1 | - | - | - | +7bp 5'_splice_site | rs6049 | 0.1161 | G=4/A=6724;G=514/A=3321;G=518/A=10045 | - | - | - | - | hom | 4 |
20 | X | 138623358 | T | G | ENST00000218099 | ENSG00000101981 | 138612917 | 138645617 | ENSP00000218099 | F9 | 1 | FA9_HUMAN | - | - | +10bp 5'_splice_site | NA | - | G=17/T=6711;G=1/T=3834;G=18/T=10545 | - | - | - | - | hom | 5 |