| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43846414_43846417delinsGAAT | CA2493945223 | ABCG8 | c.322+103_322+106delinsGAAT (p.=) n.882_885delinsGAAT c.334+103_334+106delinsGAAT (p.=) c.106+103_106+106delinsGAAT (p.=) n.824+103_824+106delinsGAAT n.838+103_838+106delinsGAAT | |
| 2 | g.43846419_43846421del | CA532703117 | ABCG8 | c.322+108_322+110del (p.=) n.887_889del c.334+108_334+110del (p.=) c.106+108_106+110del (p.=) n.824+108_824+110del n.838+108_838+110del | dbSNP gnomAD |
| 2 | g.43846418A= | CA2493945224 | ABCG8 | c.322+107A= (p.=) n.886A= c.334+107A= (p.=) c.106+107A= (p.=) n.824+107A= n.838+107A= | |
| 2 | g.43846418A>G | CA532703118 | ABCG8 | c.322+107A>G (p.=) n.886A>G c.334+107A>G (p.=) c.106+107A>G (p.=) n.824+107A>G n.838+107A>G | gnomAD |
| 2 | g.43846419A= | CA2493945225 | ABCG8 | c.322+108A= (p.=) n.887A= c.334+108A= (p.=) c.106+108A= (p.=) n.824+108A= n.838+108A= | |
| 2 | g.43846419A>G | CA2493945226 | ABCG8 | c.322+108A>G (p.=) n.887A>G c.334+108A>G (p.=) c.106+108A>G (p.=) n.824+108A>G n.838+108A>G | |
| 2 | g.43846422C= | CA2493945227 | ABCG8 | c.322+111C= (p.=) n.890C= c.334+111C= (p.=) c.106+111C= (p.=) n.824+111C= n.838+111C= | |
| 2 | g.43846422C>T | CA46434904 | ABCG8 | c.322+111C>T (p.=) n.890C>T c.334+111C>T (p.=) c.106+111C>T (p.=) n.824+111C>T n.838+111C>T | dbSNP gnomAD |
| 2 | g.43846423A= | CA2493945228 | ABCG8 | c.322+112A= (p.=) n.891A= c.334+112A= (p.=) c.106+112A= (p.=) n.824+112A= n.838+112A= | |
| 2 | g.43846423A>C | CA46434906 | ABCG8 | c.322+112A>C (p.=) n.891A>C c.334+112A>C (p.=) c.106+112A>C (p.=) n.824+112A>C n.838+112A>C | dbSNP |
| 2 | g.43846426A= | CA2493945229 | ABCG8 | c.322+115A= (p.=) n.894A= c.334+115A= (p.=) c.106+115A= (p.=) n.824+115A= n.838+115A= | |
| 2 | g.43846426A>C | CA532703119 | ABCG8 | c.322+115A>C (p.=) n.894A>C c.334+115A>C (p.=) c.106+115A>C (p.=) n.824+115A>C n.838+115A>C | gnomAD |
| 2 | g.43846432G>C | CA1029986811 | ABCG8 | c.322+121G>C (p.=) n.900G>C c.334+121G>C (p.=) c.106+121G>C (p.=) n.824+121G>C n.838+121G>C | |
| 2 | g.43846432G= | CA2493945230 | ABCG8 | c.322+121G= (p.=) n.900G= c.334+121G= (p.=) c.106+121G= (p.=) n.824+121G= n.838+121G= | |
| 2 | g.43846434T>C | CA2493945232 | ABCG8 | c.322+123T>C (p.=) n.902T>C c.334+123T>C (p.=) c.106+123T>C (p.=) n.824+123T>C n.838+123T>C | |
| 2 | g.43846434T= | CA2493945231 | ABCG8 | c.322+123T= (p.=) n.902T= c.334+123T= (p.=) c.106+123T= (p.=) n.824+123T= n.838+123T= | |
| 2 | g.43846437G>C | CA532703120 | ABCG8 | c.322+126G>C (p.=) n.905G>C c.334+126G>C (p.=) c.106+126G>C (p.=) n.824+126G>C n.838+126G>C | gnomAD |
| 2 | g.43846437G= | CA2493945233 | ABCG8 | c.322+126G= (p.=) n.905G= c.334+126G= (p.=) c.106+126G= (p.=) n.824+126G= n.838+126G= | |
| 2 | g.43846440C= | CA2493945234 | ABCG8 | c.322+129C= (p.=) n.908C= c.334+129C= (p.=) c.106+129C= (p.=) n.824+129C= n.838+129C= | |
| 2 | g.43846440C>T | CA2493945235 | ABCG8 | c.322+129C>T (p.=) n.908C>T c.334+129C>T (p.=) c.106+129C>T (p.=) n.824+129C>T n.838+129C>T | |
| 2 | g.43846442C= | CA2493945236 | ABCG8 | c.322+131C= (p.=) n.910C= c.334+131C= (p.=) c.106+131C= (p.=) n.824+131C= n.838+131C= | |
| 2 | g.43846442C>G | CA1029986813 | ABCG8 | c.322+131C>G (p.=) n.910C>G c.334+131C>G (p.=) c.106+131C>G (p.=) n.824+131C>G n.838+131C>G | |
| 2 | g.43846444G>C | CA46434910 | ABCG8 | c.322+133G>C (p.=) n.912G>C c.334+133G>C (p.=) c.106+133G>C (p.=) n.824+133G>C n.838+133G>C | dbSNP gnomAD |
| 2 | g.43846444G= | CA2493945237 | ABCG8 | c.322+133G= (p.=) n.912G= c.334+133G= (p.=) c.106+133G= (p.=) n.824+133G= n.838+133G= | |
| 2 | g.43846445G>C | CA2493945239 | ABCG8 | c.322+134G>C (p.=) n.913G>C c.334+134G>C (p.=) c.106+134G>C (p.=) n.824+134G>C n.838+134G>C | |
| 2 | g.43846445G= | CA2493945238 | ABCG8 | c.322+134G= (p.=) n.913G= c.334+134G= (p.=) c.106+134G= (p.=) n.824+134G= n.838+134G= | |
| 2 | g.43846446T>C | CA769063080 | ABCG8 | c.322+135T>C (p.=) n.914T>C c.334+135T>C (p.=) c.106+135T>C (p.=) n.824+135T>C n.838+135T>C | |
| 2 | g.43846446T= | CA2493945240 | ABCG8 | c.322+135T= (p.=) n.914T= c.334+135T= (p.=) c.106+135T= (p.=) n.824+135T= n.838+135T= | |
| 2 | g.43846451G>C | CA46434919 | ABCG8 | c.322+140G>C (p.=) n.919G>C c.334+140G>C (p.=) c.106+140G>C (p.=) n.824+140G>C n.838+140G>C | dbSNP |
| 2 | g.43846451G= | CA2493945241 | ABCG8 | c.322+140G= (p.=) n.919G= c.334+140G= (p.=) c.106+140G= (p.=) n.824+140G= n.838+140G= | |
| 2 | g.43846454C>A | CA532703121 | ABCG8 | c.322+143C>A (p.=) n.922C>A c.334+143C>A (p.=) c.106+143C>A (p.=) n.824+143C>A n.838+143C>A | gnomAD |
| 2 | g.43846454C= | CA2493945242 | ABCG8 | c.322+143C= (p.=) n.922C= c.334+143C= (p.=) c.106+143C= (p.=) n.824+143C= n.838+143C= | |
| 2 | g.43846454C>G | CA46434929 | ABCG8 | c.322+143C>G (p.=) n.922C>G c.334+143C>G (p.=) c.106+143C>G (p.=) n.824+143C>G n.838+143C>G | dbSNP |
| 2 | g.43846455A= | CA2493945243 | ABCG8 | c.322+144A= (p.=) n.923A= c.334+144A= (p.=) c.106+144A= (p.=) n.824+144A= n.838+144A= | |
| 2 | g.43846455A>G | CA1029986815 | ABCG8 | c.322+144A>G (p.=) n.923A>G c.334+144A>G (p.=) c.106+144A>G (p.=) n.824+144A>G n.838+144A>G | |
| 2 | g.43846456G>C | CA769063085 | ABCG8 | c.322+145G>C (p.=) n.924G>C c.334+145G>C (p.=) c.106+145G>C (p.=) n.824+145G>C n.838+145G>C | |
| 2 | g.43846456G= | CA2493945244 | ABCG8 | c.322+145G= (p.=) n.924G= c.334+145G= (p.=) c.106+145G= (p.=) n.824+145G= n.838+145G= | |
| 2 | g.43846458C= | CA2493945245 | ABCG8 | c.322+147C= (p.=) n.926C= c.334+147C= (p.=) c.106+147C= (p.=) n.824+147C= n.838+147C= | |
| 2 | g.43846458C>G | CA1029986817 | ABCG8 | c.322+147C>G (p.=) n.926C>G c.334+147C>G (p.=) c.106+147C>G (p.=) n.824+147C>G n.838+147C>G | |
| 2 | g.43846458C>T | CA46434932 | ABCG8 | c.322+147C>T (p.=) n.926C>T c.334+147C>T (p.=) c.106+147C>T (p.=) n.824+147C>T n.838+147C>T | dbSNP gnomAD |
| 2 | g.43846463C= | CA2493945246 | ABCG8 | c.322+152C= (p.=) n.931C= c.334+152C= (p.=) c.106+152C= (p.=) n.824+152C= n.838+152C= | |
| 2 | g.43846463C>G | CA2493945247 | ABCG8 | c.322+152C>G (p.=) n.931C>G c.334+152C>G (p.=) c.106+152C>G (p.=) n.824+152C>G n.838+152C>G | |
| 2 | g.43846465G>A | CA1029986822 | ABCG8 | c.322+154G>A (p.=) n.933G>A c.334+154G>A (p.=) c.106+154G>A (p.=) n.824+154G>A n.838+154G>A | |
| 2 | g.43846465G= | CA2493945248 | ABCG8 | c.322+154G= (p.=) n.933G= c.334+154G= (p.=) c.106+154G= (p.=) n.824+154G= n.838+154G= | |
| 2 | g.43846466G>A | CA2493945250 | ABCG8 | c.322+155G>A (p.=) n.934G>A c.334+155G>A (p.=) c.106+155G>A (p.=) n.824+155G>A n.838+155G>A | |
| 2 | g.43846466G= | CA2493945249 | ABCG8 | c.322+155G= (p.=) n.934G= c.334+155G= (p.=) c.106+155G= (p.=) n.824+155G= n.838+155G= | |
| 2 | g.43846467G= | CA2493945251 | ABCG8 | c.322+156G= (p.=) n.935G= c.334+156G= (p.=) c.106+156G= (p.=) n.824+156G= n.838+156G= | |
| 2 | g.43846467G>T | CA1029986825 | ABCG8 | c.322+156G>T (p.=) n.935G>T c.334+156G>T (p.=) c.106+156G>T (p.=) n.824+156G>T n.838+156G>T | |
| 2 | g.43846471A= | CA2493945252 | ABCG8 | c.322+160A= (p.=) n.939A= c.334+160A= (p.=) c.106+160A= (p.=) n.824+160A= n.838+160A= | |
| 2 | g.43846471A>C | CA532703122 | ABCG8 | c.322+160A>C (p.=) n.939A>C c.334+160A>C (p.=) c.106+160A>C (p.=) n.824+160A>C n.838+160A>C | gnomAD |