| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.118108274_118110927del | CA916081523 | EXT1 | c.124_962+1815del c.73+51_73+2704del (n.73+51_73+2704del) | ClinVar |
| 8 | g.118109691_118110512del | CA2499219105 | EXT1 | c.540_962+399del c.73+467_73+1288del (n.73+467_73+1288del) | ClinVar dbSNP |
| 8 | g.118110135C>A | CA371914774 | EXT1 | c.912G>T (p.Trp304Cys) c.280G>T c.73+839G>T (n.73+839G>T) | dbSNP |
| 8 | g.118110135C= | CA1814088394 | EXT1 | c.912G= (p.Trp304=) c.280G= c.73+839G= (n.73+839G=) | |
| 8 | g.118110135C>G | CA371914775 | EXT1 | c.912G>C (p.Trp304Cys) c.280G>C c.73+839G>C (n.73+839G>C) | |
| 8 | g.118110135C>T | CA371914776 | EXT1 | c.912G>A (p.Trp304Ter) c.280G>A c.73+839G>A (n.73+839G>A) | ClinVar dbSNP |
| 8 | g.118110136C>A | CA371914777 | EXT1 | c.911G>T (p.Trp304Leu) c.279G>T c.73+838G>T (n.73+838G>T) | dbSNP |
| 8 | g.118110136C>G | CA371914778 | EXT1 | c.911G>C (p.Trp304Ser) c.279G>C c.73+838G>C (n.73+838G>C) | |
| 8 | g.118110136C>T | CA371914779 | EXT1 | c.911G>A (p.Trp304Ter) c.279G>A c.73+838G>A (n.73+838G>A) | |
| 8 | g.118110137A= | CA1814088396 | EXT1 | c.910T= (p.Trp304=) c.278T= c.73+837T= (n.73+837T=) | |
| 8 | g.118110137A>C | CA371914780 | EXT1 | c.910T>G (p.Trp304Gly) c.278T>G c.73+837T>G (n.73+837T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.118110137A>G | CA371914781 | EXT1 | c.910T>C (p.Trp304Arg) c.278T>C c.73+837T>C (n.73+837T>C) | |
| 8 | g.118110137A>T | CA371914782 | EXT1 | c.910T>A (p.Trp304Arg) c.278T>A c.73+837T>A (n.73+837T>A) | ClinVar dbSNP |
| 8 | g.118110138G>A | CA462471445 | EXT1 | c.909C>T (p.Asp303=) c.277C>T c.73+836C>T (n.73+836C>T) | |
| 8 | g.118110138G>C | CA371914783 | EXT1 | c.909C>G (p.Asp303Glu) c.277C>G c.73+836C>G (n.73+836C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110138G= | CA1814088398 | EXT1 | c.909C= (p.Asp303=) c.277C= c.73+836C= (n.73+836C=) | |
| 8 | g.118110138G>T | CA371914784 | EXT1 | c.909C>A (p.Asp303Glu) c.277C>A c.73+836C>A (n.73+836C>A) | |
| 8 | g.118110139T>A | CA371914786 | EXT1 | c.908A>T (p.Asp303Val) c.276A>T c.73+835A>T (n.73+835A>T) | |
| 8 | g.118110139T>C | CA371914787 | EXT1 | c.908A>G (p.Asp303Gly) c.276A>G c.73+835A>G (n.73+835A>G) | |
| 8 | g.118110139T>G | CA371914785 | EXT1 | c.908A>C (p.Asp303Ala) c.276A>C c.73+835A>C (n.73+835A>C) | |
| 8 | g.118110140del | CA2573142820 | EXT1 | c.907del (p.Asp303ThrfsTer?) c.275del c.73+834del (n.73+834del) | ClinVar dbSNP |
| 8 | g.118110140C>A | CA371914789 | EXT1 | c.907G>T (p.Asp303Tyr) c.275G>T c.73+834G>T (n.73+834G>T) | gnomAD v4 |
| 8 | g.118110140C>G | CA371914788 | EXT1 | c.907G>C (p.Asp303His) c.275G>C c.73+834G>C (n.73+834G>C) | |
| 8 | g.118110140C>T | CA371914790 | EXT1 | c.907G>A (p.Asp303Asn) c.275G>A c.73+834G>A (n.73+834G>A) | gnomAD v4 |
| 8 | g.118110141T>A | CA371914791 | EXT1 | c.906A>T (p.Lys302Asn) c.274A>T c.73+833A>T (n.73+833A>T) | |
| 8 | g.118110141T>C | CA462645044 | EXT1 | c.906A>G (p.Lys302=) c.274A>G c.73+833A>G (n.73+833A>G) | |
| 8 | g.118110141T>G | CA371914792 | EXT1 | c.906A>C (p.Lys302Asn) c.274A>C c.73+833A>C (n.73+833A>C) | |
| 8 | g.118110143del | CA2695210136 | EXT1 | c.906del (p.Asp303ThrfsTer?) c.274del c.73+833del (n.73+833del) | |
| 8 | g.118110142T>A | CA371914793 | EXT1 | c.905A>T (p.Lys302Ile) c.273A>T c.73+832A>T (n.73+832A>T) | |
| 8 | g.118110142T>C | CA371914795 | EXT1 | c.905A>G (p.Lys302Arg) c.273A>G c.73+832A>G (n.73+832A>G) | ClinVar |
| 8 | g.118110142T>G | CA371914794 | EXT1 | c.905A>C (p.Lys302Thr) c.273A>C c.73+832A>C (n.73+832A>C) | |
| 8 | g.118110143T>A | CA371914796 | EXT1 | c.904A>T (p.Lys302Ter) c.272A>T c.73+831A>T (n.73+831A>T) | |
| 8 | g.118110143T>C | CA371914797 | EXT1 | c.904A>G (p.Lys302Glu) c.272A>G c.73+831A>G (n.73+831A>G) | |
| 8 | g.118110143T>G | CA371914798 | EXT1 | c.904A>C (p.Lys302Gln) c.272A>C c.73+831A>C (n.73+831A>C) | |
| 8 | g.118110144G>A | CA462645045 | EXT1 | c.903C>T (p.Gly301=) c.271C>T c.73+830C>T (n.73+830C>T) | dbSNP gnomAD v4 |
| 8 | g.118110144G>C | CA462645046 | EXT1 | c.903C>G (p.Gly301=) c.271C>G c.73+830C>G (n.73+830C>G) | dbSNP |
| 8 | g.118110144G= | CA1814088402 | EXT1 | c.903C= (p.Gly301=) c.271C= c.73+830C= (n.73+830C=) | |
| 8 | g.118110144G>T | CA462645047 | EXT1 | c.903C>A (p.Gly301=) c.271C>A c.73+830C>A (n.73+830C>A) | gnomAD v4 |
| 8 | g.118110145C>A | CA371914799 | EXT1 | c.902G>T (p.Gly301Val) c.270G>T c.73+829G>T (n.73+829G>T) | dbSNP |
| 8 | g.118110145C>G | CA371914800 | EXT1 | c.902G>C (p.Gly301Ala) c.270G>C c.73+829G>C (n.73+829G>C) | dbSNP |
| 8 | g.118110145C>T | CA371914801 | EXT1 | c.902G>A (p.Gly301Asp) c.270G>A c.73+829G>A (n.73+829G>A) | dbSNP |
| 8 | g.118110146del | CA2695210137 | EXT1 | c.902del (p.Gly301AlafsTer?) c.270del c.73+829del (n.73+829del) | |
| 8 | g.118110146C>A | CA371914802 | EXT1 | c.901G>T (p.Gly301Cys) c.269G>T c.73+828G>T (n.73+828G>T) | |
| 8 | g.118110146C>G | CA371914803 | EXT1 | c.901G>C (p.Gly301Arg) c.269G>C c.73+828G>C (n.73+828G>C) | |
| 8 | g.118110146C>T | CA371914804 | EXT1 | c.901G>A (p.Gly301Ser) c.269G>A c.73+828G>A (n.73+828G>A) | ClinVar |
| 8 | g.118110147A= | CA1814088403 | EXT1 | c.900T= (p.His300=) c.268T= c.73+827T= (n.73+827T=) | |
| 8 | g.118110147A>C | CA371914805 | EXT1 | c.900T>G (p.His300Gln) c.268T>G c.73+827T>G (n.73+827T>G) | |
| 8 | g.118110147A>G | CA462645048 | EXT1 | c.900T>C (p.His300=) c.268T>C c.73+827T>C (n.73+827T>C) | dbSNP |
| 8 | g.118110147A>T | CA371914806 | EXT1 | c.900T>A (p.His300Gln) c.268T>A c.73+827T>A (n.73+827T>A) | |
| 8 | g.118110148T>A | CA371914808 | EXT1 | c.899A>T (p.His300Leu) c.267A>T c.73+826A>T (n.73+826A>T) |