UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.118110097G>A | CA371914681 | EXT1 | c.950C>T (p.Thr317Ile) c.318C>T c.73+877C>T (n.73+877C>T) | dbSNP |
| 8 | g.118110097G>C | CA4854299 | EXT1 | c.950C>G (p.Thr317Ser) c.318C>G c.73+877C>G (n.73+877C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110097G= | CA1814088353 | EXT1 | c.950C= (p.Thr317=) c.318C= c.73+877C= (n.73+877C=) | |
| 8 | g.118110097G>T | CA371914682 | EXT1 | c.950C>A (p.Thr317Asn) c.318C>A c.73+877C>A (n.73+877C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.118110098del | CA2697550118 | EXT1 | c.949del (p.Thr317ProfsTer?) c.317del c.73+876del (n.73+876del) | ClinVar |
| 8 | g.118110098T>A | CA371914685 | EXT1 | c.949A>T (p.Thr317Ser) c.317A>T c.73+876A>T (n.73+876A>T) | |
| 8 | g.118110098T>C | CA371914683 | EXT1 | c.949A>G (p.Thr317Ala) c.317A>G c.73+876A>G (n.73+876A>G) | |
| 8 | g.118110098T>G | CA371914684 | EXT1 | c.949A>C (p.Thr317Pro) c.317A>C c.73+876A>C (n.73+876A>C) | |
| 8 | g.118110099G>A | CA462471428 | EXT1 | c.948C>T (p.Asn316=) c.316C>T c.73+875C>T (n.73+875C>T) | dbSNP |
| 8 | g.118110099G>C | CA371914686 | EXT1 | c.948C>G (p.Asn316Lys) c.316C>G c.73+875C>G (n.73+875C>G) | |
| 8 | g.118110099G>T | CA371914687 | EXT1 | c.948C>A (p.Asn316Lys) c.316C>A c.73+875C>A (n.73+875C>A) | |
| 8 | g.118110100T>A | CA371914688 | EXT1 | c.947A>T (p.Asn316Ile) c.315A>T c.73+874A>T (n.73+874A>T) | |
| 8 | g.118110100T>C | CA371914689 | EXT1 | c.947A>G (p.Asn316Ser) c.315A>G c.73+874A>G (n.73+874A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.118110100T>G | CA371914690 | EXT1 | c.947A>C (p.Asn316Thr) c.315A>C c.73+874A>C (n.73+874A>C) | |
| 8 | g.118110100T= | CA1814088355 | EXT1 | c.947A= (p.Asn316=) c.315A= c.73+874A= (n.73+874A=) | |
| 8 | g.118110101T>A | CA371914691 | EXT1 | c.946A>T (p.Asn316Tyr) c.314A>T c.73+873A>T (n.73+873A>T) | |
| 8 | g.118110101T>C | CA371914692 | EXT1 | c.946A>G (p.Asn316Asp) c.314A>G c.73+873A>G (n.73+873A>G) | gnomAD v4 |
| 8 | g.118110101T>G | CA371914693 | EXT1 | c.946A>C (p.Asn316His) c.314A>C c.73+873A>C (n.73+873A>C) | |
| 8 | g.118110102G>A | CA462471429 | EXT1 | c.945C>T (p.Asp315=) c.313C>T c.73+872C>T (n.73+872C>T) | dbSNP |
| 8 | g.118110102G>C | CA371914694 | EXT1 | c.945C>G (p.Asp315Glu) c.313C>G c.73+872C>G (n.73+872C>G) | |
| 8 | g.118110102G= | CA1814088357 | EXT1 | c.945C= (p.Asp315=) c.313C= c.73+872C= (n.73+872C=) | |
| 8 | g.118110102G>T | CA371914695 | EXT1 | c.945C>A (p.Asp315Glu) c.313C>A c.73+872C>A (n.73+872C>A) | |
| 8 | g.118110103T>A | CA371914698 | EXT1 | c.944A>T (p.Asp315Val) c.312A>T c.73+871A>T (n.73+871A>T) | |
| 8 | g.118110103T>C | CA371914697 | EXT1 | c.944A>G (p.Asp315Gly) c.312A>G c.73+871A>G (n.73+871A>G) | |
| 8 | g.118110103T>G | CA371914696 | EXT1 | c.944A>C (p.Asp315Ala) c.312A>C c.73+871A>C (n.73+871A>C) | |
| 8 | g.118110106_118110107del | CA2548052743 | EXT1 | c.943_944del (p.Asp315GlnfsTer5) c.311_312del c.73+870_73+871del (n.73+870_73+871del) | |
| 8 | g.118110104C>A | CA371914699 | EXT1 | c.943G>T (p.Asp315Tyr) c.311G>T c.73+870G>T (n.73+870G>T) | |
| 8 | g.118110104C= | CA1814088359 | EXT1 | c.943G= (p.Asp315=) c.311G= c.73+870G= (n.73+870G=) | |
| 8 | g.118110104C>G | CA371914700 | EXT1 | c.943G>C (p.Asp315His) c.311G>C c.73+870G>C (n.73+870G>C) | |
| 8 | g.118110104C>T | CA371914701 | EXT1 | c.943G>A (p.Asp315Asn) c.311G>A c.73+870G>A (n.73+870G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.118110105T>A | CA371914702 | EXT1 | c.942A>T (p.Arg314Ser) c.310A>T c.73+869A>T (n.73+869A>T) | |
| 8 | g.118110105T>C | CA462471431 | EXT1 | c.942A>G (p.Arg314=) c.310A>G c.73+869A>G (n.73+869A>G) | |
| 8 | g.118110105T>G | CA371914703 | EXT1 | c.942A>C (p.Arg314Ser) c.310A>C c.73+869A>C (n.73+869A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110105T= | CA1814088361 | EXT1 | c.942A= (p.Arg314=) c.310A= c.73+869A= (n.73+869A=) | |
| 8 | g.118110106C>A | CA371914704 | EXT1 | c.941G>T (p.Arg314Ile) c.309G>T c.73+868G>T (n.73+868G>T) | |
| 8 | g.118110106C>G | CA371914705 | EXT1 | c.941G>C (p.Arg314Thr) c.309G>C c.73+868G>C (n.73+868G>C) | dbSNP |
| 8 | g.118110106C>T | CA371914706 | EXT1 | c.941G>A (p.Arg314Lys) c.309G>A c.73+868G>A (n.73+868G>A) | |
| 8 | g.118110107T>A | CA371914707 | EXT1 | c.940A>T (p.Arg314Ter) c.308A>T c.73+867A>T (n.73+867A>T) | |
| 8 | g.118110107T>C | CA371914708 | EXT1 | c.940A>G (p.Arg314Gly) c.308A>G c.73+867A>G (n.73+867A>G) | |
| 8 | g.118110107T>G | CA462471432 | EXT1 | c.940A>C (p.Arg314=) c.308A>C c.73+867A>C (n.73+867A>C) | |
| 8 | g.118110108G>A | CA462471433 | EXT1 | c.939C>T (p.Asp313=) c.307C>T c.73+866C>T (n.73+866C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.118110108G>C | CA371914709 | EXT1 | c.939C>G (p.Asp313Glu) c.307C>G c.73+866C>G (n.73+866C>G) | gnomAD v4 |
| 8 | g.118110108G= | CA1814088364 | EXT1 | c.939C= (p.Asp313=) c.307C= c.73+866C= (n.73+866C=) | |
| 8 | g.118110108G>T | CA371914710 | EXT1 | c.939C>A (p.Asp313Glu) c.307C>A c.73+866C>A (n.73+866C>A) | |
| 8 | g.118110109T>A | CA371914713 | EXT1 | c.938A>T (p.Asp313Val) c.306A>T c.73+865A>T (n.73+865A>T) | |
| 8 | g.118110109T>C | CA371914711 | EXT1 | c.938A>G (p.Asp313Gly) c.306A>G c.73+865A>G (n.73+865A>G) | |
| 8 | g.118110109T>G | CA371914712 | EXT1 | c.938A>C (p.Asp313Ala) c.306A>C c.73+865A>C (n.73+865A>C) | |
| 8 | g.118110110C>A | CA371914714 | EXT1 | c.937G>T (p.Asp313Tyr) c.305G>T c.73+864G>T (n.73+864G>T) | |
| 8 | g.118110110C>G | CA371914715 | EXT1 | c.937G>C (p.Asp313His) c.305G>C c.73+864G>C (n.73+864G>C) | |
| 8 | g.118110110C>T | CA371914716 | EXT1 | c.937G>A (p.Asp313Asn) c.305G>A c.73+864G>A (n.73+864G>A) | |
| 8 | g.118110110_118110113delinsCACA | CA1814088366 | EXT1 | c.934_937delinsTGTG (p.Cys312=) c.302_305delinsTGTG c.73+861_73+864delinsTGTG (n.73+861_73+864delinsTGTG) | |
| 8 | g.118110111A>C | CA371914717 | EXT1 | c.936T>G (p.Cys312Trp) c.304T>G c.73+863T>G (n.73+863T>G) | |
| 8 | g.118110111A>G | CA462471434 | EXT1 | c.936T>C (p.Cys312=) c.304T>C c.73+863T>C (n.73+863T>C) | COSMIC |
| 8 | g.118110111A>T | CA371914718 | EXT1 | c.936T>A (p.Cys312Ter) c.304T>A c.73+863T>A (n.73+863T>A) | ClinVar dbSNP |
| 8 | g.118110111_118110113del | CA916081524 | EXT1 | c.934_936del (p.Cys312del) c.302_304del c.73+861_73+863del (n.73+861_73+863del) | ClinVar dbSNP |
| 8 | g.118110112_118110117del | CA645562741 | EXT1 | c.931_936del (p.Arg311_Cys312del) c.299_304del c.73+858_73+863del (n.73+858_73+863del) | COSMIC |
| 8 | g.118110112C>A | CA371914719 | EXT1 | c.935G>T (p.Cys312Phe) c.303G>T c.73+862G>T (n.73+862G>T) | |
| 8 | g.118110112C>G | CA371914720 | EXT1 | c.935G>C (p.Cys312Ser) c.303G>C c.73+862G>C (n.73+862G>C) | |
| 8 | g.118110112C>T | CA371914721 | EXT1 | c.935G>A (p.Cys312Tyr) c.303G>A c.73+862G>A (n.73+862G>A) | gnomAD v4 |
| 8 | g.118110113del | CA2695210133 | EXT1 | c.934del (p.Cys312ValfsTer?) c.302del c.73+861del (n.73+861del) | |
| 8 | g.118110113A= | CA1814088370 | EXT1 | c.934T= (p.Cys312=) c.302T= c.73+861T= (n.73+861T=) | |
| 8 | g.118110113A>C | CA371914722 | EXT1 | c.934T>G (p.Cys312Gly) c.302T>G c.73+861T>G (n.73+861T>G) | |
| 8 | g.118110113A>G | CA371914723 | EXT1 | c.934T>C (p.Cys312Arg) c.302T>C c.73+861T>C (n.73+861T>C) | ClinVar dbSNP |
| 8 | g.118110113A>T | CA371914724 | EXT1 | c.934T>A (p.Cys312Ser) c.302T>A c.73+861T>A (n.73+861T>A) | dbSNP |
| 8 | g.118110114G>A | CA4854300 | EXT1 | c.933C>T (p.Arg311=) c.301C>T c.73+860C>T (n.73+860C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.118110114G>C | CA462471437 | EXT1 | c.933C>G (p.Arg311=) c.301C>G c.73+860C>G (n.73+860C>G) | |
| 8 | g.118110114G= | CA1814088372 | EXT1 | c.933C= (p.Arg311=) c.301C= c.73+860C= (n.73+860C=) | |
| 8 | g.118110114G>T | CA462471438 | EXT1 | c.933C>A (p.Arg311=) c.301C>A c.73+860C>A (n.73+860C>A) | |
| 8 | g.118110115C>A | CA4854301 | EXT1 | c.932G>T (p.Arg311Leu) c.300G>T c.73+859G>T (n.73+859G>T) | dbSNP ExAC gnomAD v4 |
| 8 | g.118110115C= | CA1814088374 | EXT1 | c.932G= (p.Arg311=) c.300G= c.73+859G= (n.73+859G=) | |
| 8 | g.118110115C>G | CA371914726 | EXT1 | c.932G>C (p.Arg311Pro) c.300G>C c.73+859G>C (n.73+859G>C) | |
| 8 | g.118110115C>T | CA371914725 | EXT1 | c.932G>A (p.Arg311His) c.300G>A c.73+859G>A (n.73+859G>A) | |
| 8 | g.118110116G>A | CA371914729 | EXT1 | c.931C>T (p.Arg311Cys) c.299C>T c.73+858C>T (n.73+858C>T) | |
| 8 | g.118110116G>C | CA371914727 | EXT1 | c.931C>G (p.Arg311Gly) c.299C>G c.73+858C>G (n.73+858C>G) | |
| 8 | g.118110116G= | CA1814088375 | EXT1 | c.931C= (p.Arg311=) c.299C= c.73+858C= (n.73+858C=) | |
| 8 | g.118110116G>T | CA371914728 | EXT1 | c.931C>A (p.Arg311Ser) c.299C>A c.73+858C>A (n.73+858C>A) | dbSNP |
| 8 | g.118110117A>C | CA462471439 | EXT1 | c.930T>G (p.Ser310=) c.298T>G c.73+857T>G (n.73+857T>G) | |
| 8 | g.118110117A>G | CA462471440 | EXT1 | c.930T>C (p.Ser310=) c.298T>C c.73+857T>C (n.73+857T>C) | |
| 8 | g.118110117A>T | CA462471441 | EXT1 | c.930T>A (p.Ser310=) c.298T>A c.73+857T>A (n.73+857T>A) | |
| 8 | g.118110118G>A | CA184682397 | EXT1 | c.929C>T (p.Ser310Phe) c.297C>T c.73+856C>T (n.73+856C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.118110118G>C | CA371914730 | EXT1 | c.929C>G (p.Ser310Cys) c.297C>G c.73+856C>G (n.73+856C>G) | |
| 8 | g.118110118G= | CA1814088377 | EXT1 | c.929C= (p.Ser310=) c.297C= c.73+856C= (n.73+856C=) | |
| 8 | g.118110118G>T | CA371914731 | EXT1 | c.929C>A (p.Ser310Tyr) c.297C>A c.73+856C>A (n.73+856C>A) | |
| 8 | g.118110119A>C | CA371914732 | EXT1 | c.928T>G (p.Ser310Ala) c.296T>G c.73+855T>G (n.73+855T>G) | |
| 8 | g.118110119A>G | CA371914733 | EXT1 | c.928T>C (p.Ser310Pro) c.296T>C c.73+855T>C (n.73+855T>C) | |
| 8 | g.118110119A>T | CA371914734 | EXT1 | c.928T>A (p.Ser310Thr) c.296T>A c.73+855T>A (n.73+855T>A) | |
| 8 | g.118110120A>C | CA371914735 | EXT1 | c.927T>G (p.Asp309Glu) c.295T>G c.73+854T>G (n.73+854T>G) | |
| 8 | g.118110120A>G | CA462471442 | EXT1 | c.927T>C (p.Asp309=) c.295T>C c.73+854T>C (n.73+854T>C) | |
| 8 | g.118110120A>T | CA371914736 | EXT1 | c.927T>A (p.Asp309Glu) c.295T>A c.73+854T>A (n.73+854T>A) | |
| 8 | g.118110121T>A | CA371914737 | EXT1 | c.926A>T (p.Asp309Val) c.294A>T c.73+853A>T (n.73+853A>T) | |
| 8 | g.118110121T>C | CA371914738 | EXT1 | c.926A>G (p.Asp309Gly) c.294A>G c.73+853A>G (n.73+853A>G) | |
| 8 | g.118110121T>G | CA371914739 | EXT1 | c.926A>C (p.Asp309Ala) c.294A>C c.73+853A>C (n.73+853A>C) | |
| 8 | g.118110122C>A | CA371914740 | EXT1 | c.925G>T (p.Asp309Tyr) c.293G>T c.73+852G>T (n.73+852G>T) | |
| 8 | g.118110122C>G | CA371914742 | EXT1 | c.925G>C (p.Asp309His) c.293G>C c.73+852G>C (n.73+852G>C) | dbSNP gnomAD v4 |
| 8 | g.118110122C>T | CA371914741 | EXT1 | c.925G>A (p.Asp309Asn) c.293G>A c.73+852G>A (n.73+852G>A) | dbSNP |
| 8 | g.118110123C>A | CA371914743 | EXT1 | c.924G>T (p.Lys308Asn) c.292G>T c.73+851G>T (n.73+851G>T) | dbSNP COSMIC |
| 8 | g.118110123C= | CA1814088380 | EXT1 | c.924G= (p.Lys308=) c.292G= c.73+851G= (n.73+851G=) | |
| 8 | g.118110123C>G | CA371914744 | EXT1 | c.924G>C (p.Lys308Asn) c.292G>C c.73+851G>C (n.73+851G>C) | |
| 8 | g.118110123C>T | CA4854302 | EXT1 | c.924G>A (p.Lys308=) c.292G>A c.73+851G>A (n.73+851G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110124T>A | CA371914745 | EXT1 | c.923A>T (p.Lys308Met) c.291A>T c.73+850A>T (n.73+850A>T) | |
| 8 | g.118110124T>C | CA4854303 | EXT1 | c.923A>G (p.Lys308Arg) c.291A>G c.73+850A>G (n.73+850A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110124T>G | CA371914746 | EXT1 | c.923A>C (p.Lys308Thr) c.291A>C c.73+850A>C (n.73+850A>C) | gnomAD v4 |
| 8 | g.118110124T= | CA1814088382 | EXT1 | c.923A= (p.Lys308=) c.291A= c.73+850A= (n.73+850A=) | |
| 8 | g.118110125T>A | CA371914747 | EXT1 | c.922A>T (p.Lys308Ter) c.290A>T c.73+849A>T (n.73+849A>T) | |
| 8 | g.118110125T>C | CA371914748 | EXT1 | c.922A>G (p.Lys308Glu) c.290A>G c.73+849A>G (n.73+849A>G) | |
| 8 | g.118110125T>G | CA371914749 | EXT1 | c.922A>C (p.Lys308Gln) c.290A>C c.73+849A>C (n.73+849A>C) | gnomAD v4 |
| 8 | g.118110126G>A | CA462471443 | EXT1 | c.921C>T (p.His307=) c.289C>T c.73+848C>T (n.73+848C>T) | |
| 8 | g.118110126G>C | CA371914750 | EXT1 | c.921C>G (p.His307Gln) c.289C>G c.73+848C>G (n.73+848C>G) | |
| 8 | g.118110126G>T | CA371914751 | EXT1 | c.921C>A (p.His307Gln) c.289C>A c.73+848C>A (n.73+848C>A) | |
| 8 | g.118110127T>A | CA371914753 | EXT1 | c.920A>T (p.His307Leu) c.288A>T c.73+847A>T (n.73+847A>T) | |
| 8 | g.118110127T>C | CA371914754 | EXT1 | c.920A>G (p.His307Arg) c.288A>G c.73+847A>G (n.73+847A>G) | |
| 8 | g.118110127T>G | CA371914752 | EXT1 | c.920A>C (p.His307Pro) c.288A>C c.73+847A>C (n.73+847A>C) | gnomAD v4 |
| 8 | g.118110128G>A | CA371914755 | EXT1 | c.919C>T (p.His307Tyr) c.287C>T c.73+846C>T (n.73+846C>T) | gnomAD v4 |
| 8 | g.118110128G>C | CA371914756 | EXT1 | c.919C>G (p.His307Asp) c.287C>G c.73+846C>G (n.73+846C>G) | |
| 8 | g.118110128G>T | CA371914757 | EXT1 | c.919C>A (p.His307Asn) c.287C>A c.73+846C>A (n.73+846C>A) | |
| 8 | g.118110129del | CA2695210134 | EXT1 | c.918del (p.Lys306AsnfsTer?) c.286del c.73+845del (n.73+845del) | |
| 8 | g.118110129C>A | CA371914758 | EXT1 | c.918G>T (p.Lys306Asn) c.286G>T c.73+845G>T (n.73+845G>T) | dbSNP |
| 8 | g.118110129C= | CA1814088384 | EXT1 | c.918G= (p.Lys306=) c.286G= c.73+845G= (n.73+845G=) | |
| 8 | g.118110129C>G | CA371914759 | EXT1 | c.918G>C (p.Lys306Asn) c.286G>C c.73+845G>C (n.73+845G>C) | |
| 8 | g.118110129C>T | CA184682400 | EXT1 | c.918G>A (p.Lys306=) c.286G>A c.73+845G>A (n.73+845G>A) | dbSNP gnomAD v4 |
| 8 | g.118110130T>A | CA371914760 | EXT1 | c.917A>T (p.Lys306Met) c.285A>T c.73+844A>T (n.73+844A>T) | |
| 8 | g.118110130T>C | CA371914761 | EXT1 | c.917A>G (p.Lys306Arg) c.285A>G c.73+844A>G (n.73+844A>G) | |
| 8 | g.118110130T>G | CA371914762 | EXT1 | c.917A>C (p.Lys306Thr) c.285A>C c.73+844A>C (n.73+844A>C) | |
| 8 | g.118110133dup | CA16618588 | EXT1 | c.917dup (p.His307AlafsTer7) c.285dup c.73+844dup (n.73+844dup) | ClinVar dbSNP |
| 8 | g.118110133del | CA2695210135 | EXT1 | c.917del (p.Lys306SerfsTer?) c.285del c.73+844del (n.73+844del) | |
| 8 | g.118110131T>A | CA371914763 | EXT1 | c.916A>T (p.Lys306Ter) c.284A>T c.73+843A>T (n.73+843A>T) | |
| 8 | g.118110131T>C | CA371914764 | EXT1 | c.916A>G (p.Lys306Glu) c.284A>G c.73+843A>G (n.73+843A>G) | |
| 8 | g.118110131T>G | CA371914765 | EXT1 | c.916A>C (p.Lys306Gln) c.284A>C c.73+843A>C (n.73+843A>C) | |
| 8 | g.118110132T>A | CA371914766 | EXT1 | c.915A>T (p.Gln305His) c.283A>T c.73+842A>T (n.73+842A>T) | |
| 8 | g.118110132T>C | CA462471444 | EXT1 | c.915A>G (p.Gln305=) c.283A>G c.73+842A>G (n.73+842A>G) | |
| 8 | g.118110132T>G | CA371914767 | EXT1 | c.915A>C (p.Gln305His) c.283A>C c.73+842A>C (n.73+842A>C) | |
| 8 | g.118110133T>A | CA371914770 | EXT1 | c.914A>T (p.Gln305Leu) c.282A>T c.73+841A>T (n.73+841A>T) | |
| 8 | g.118110133T>C | CA371914769 | EXT1 | c.914A>G (p.Gln305Arg) c.282A>G c.73+841A>G (n.73+841A>G) | ClinVar gnomAD v4 |
| 8 | g.118110133T>G | CA371914768 | EXT1 | c.914A>C (p.Gln305Pro) c.282A>C c.73+841A>C (n.73+841A>C) | |
| 8 | g.118110134G>A | CA371914771 | EXT1 | c.913C>T (p.Gln305Ter) c.281C>T c.73+840C>T (n.73+840C>T) | ClinVar dbSNP |
| 8 | g.118110134G>C | CA371914772 | EXT1 | c.913C>G (p.Gln305Glu) c.281C>G c.73+840C>G (n.73+840C>G) | |
| 8 | g.118110134G= | CA1814088388 | EXT1 | c.913C= (p.Gln305=) c.281C= c.73+840C= (n.73+840C=) | |
| 8 | g.118110134G>T | CA371914773 | EXT1 | c.913C>A (p.Gln305Lys) c.281C>A c.73+840C>A (n.73+840C>A) | gnomAD v4 |
| 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) | |
| 8 | g.118110148T>C | CA4854304 | EXT1 | c.899A>G (p.His300Arg) c.267A>G c.73+826A>G (n.73+826A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.118110148T>G | CA371914807 | EXT1 | c.899A>C (p.His300Pro) c.267A>C c.73+826A>C (n.73+826A>C) | dbSNP |
| 8 | g.118110148T= | CA1814088404 | EXT1 | c.899A= (p.His300=) c.267A= c.73+826A= (n.73+826A=) | |
| 8 | g.118110149G>A | CA371914809 | EXT1 | c.898C>T (p.His300Tyr) c.266C>T c.73+825C>T (n.73+825C>T) | dbSNP |
| 8 | g.118110149G>C | CA371914810 | EXT1 | c.898C>G (p.His300Asp) c.266C>G c.73+825C>G (n.73+825C>G) | |
| 8 | g.118110149G>T | CA371914811 | EXT1 | c.898C>A (p.His300Asn) c.266C>A c.73+825C>A (n.73+825C>A) | |
| 8 | g.118110150C>A | CA371914812 | EXT1 | c.897G>T (p.Lys299Asn) c.265G>T c.73+824G>T (n.73+824G>T) | |
| 8 | g.118110150C= | CA1814088408 | EXT1 | c.897G= (p.Lys299=) c.265G= c.73+824G= (n.73+824G=) | |
| 8 | g.118110150C>G | CA371914813 | EXT1 | c.897G>C (p.Lys299Asn) c.265G>C c.73+824G>C (n.73+824G>C) | |
| 8 | g.118110150C>T | CA184682403 | EXT1 | c.897G>A (p.Lys299=) c.265G>A c.73+824G>A (n.73+824G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.118110151T>A | CA371914814 | EXT1 | c.896A>T (p.Lys299Met) c.264A>T c.73+823A>T (n.73+823A>T) | dbSNP |
| 8 | g.118110151T>C | CA371914815 | EXT1 | c.896A>G (p.Lys299Arg) c.264A>G c.73+823A>G (n.73+823A>G) | |
| 8 | g.118110151T>G | CA371914816 | EXT1 | c.896A>C (p.Lys299Thr) c.264A>C c.73+823A>C (n.73+823A>C) | gnomAD v4 |
| 8 | g.118110152del | CA2781897728 | EXT1 | c.896del (p.Lys299SerfsTer?) c.264del c.73+823del (n.73+823del) | |
| 8 | g.118110152T>A | CA371914817 | EXT1 | c.895A>T (p.Lys299Ter) c.263A>T c.73+822A>T (n.73+822A>T) | |
| 8 | g.118110152T>C | CA371914818 | EXT1 | c.895A>G (p.Lys299Glu) c.263A>G c.73+822A>G (n.73+822A>G) | |
| 8 | g.118110152T>G | CA371914819 | EXT1 | c.895A>C (p.Lys299Gln) c.263A>C c.73+822A>C (n.73+822A>C) | |
| 8 | g.118110153G>A | CA462645049 | EXT1 | c.894C>T (p.Cys298=) c.262C>T c.73+821C>T (n.73+821C>T) | dbSNP |
| 8 | g.118110153G>C | CA371914820 | EXT1 | c.894C>G (p.Cys298Trp) c.262C>G c.73+821C>G (n.73+821C>G) | |
| 8 | g.118110153G>T | CA371914821 | EXT1 | c.894C>A (p.Cys298Ter) c.262C>A c.73+821C>A (n.73+821C>A) | |
| 8 | g.118110154C>A | CA371914823 | EXT1 | c.893G>T (p.Cys298Phe) c.261G>T c.73+820G>T (n.73+820G>T) | |
| 8 | g.118110154C>G | CA371914824 | EXT1 | c.893G>C (p.Cys298Ser) c.261G>C c.73+820G>C (n.73+820G>C) | |
| 8 | g.118110154C>T | CA371914825 | EXT1 | c.893G>A (p.Cys298Tyr) c.261G>A c.73+820G>A (n.73+820G>A) | dbSNP |
| 8 | g.118110155A>C | CA371914826 | EXT1 | c.892T>G (p.Cys298Gly) c.260T>G c.73+819T>G (n.73+819T>G) | |
| 8 | g.118110155A>G | CA371914827 | EXT1 | c.892T>C (p.Cys298Arg) c.260T>C c.73+819T>C (n.73+819T>C) | |
| 8 | g.118110155A>T | CA371914828 | EXT1 | c.892T>A (p.Cys298Ser) c.260T>A c.73+819T>A (n.73+819T>A) | dbSNP |
| 8 | g.118110156G>A | CA462645050 | EXT1 | c.891C>T (p.Thr297=) c.259C>T c.73+818C>T (n.73+818C>T) | dbSNP COSMIC |
| 8 | g.118110156G>C | CA462645051 | EXT1 | c.891C>G (p.Thr297=) c.259C>G c.73+818C>G (n.73+818C>G) | |
| 8 | g.118110156G>T | CA462645052 | EXT1 | c.891C>A (p.Thr297=) c.259C>A c.73+818C>A (n.73+818C>A) | |
| 8 | g.118110157G>A | CA371914829 | EXT1 | c.890C>T (p.Thr297Ile) c.258C>T c.73+817C>T (n.73+817C>T) | dbSNP |
| 8 | g.118110157G>C | CA371914830 | EXT1 | c.890C>G (p.Thr297Ser) c.258C>G c.73+817C>G (n.73+817C>G) | |
| 8 | g.118110157G>T | CA371914831 | EXT1 | c.890C>A (p.Thr297Asn) c.258C>A c.73+817C>A (n.73+817C>A) | |
| 8 | g.118110158T>A | CA371914832 | EXT1 | c.889A>T (p.Thr297Ser) c.257A>T c.73+816A>T (n.73+816A>T) | ClinVar dbSNP gnomAD v4 |
| 8 | g.118110158T>C | CA371914833 | EXT1 | c.889A>G (p.Thr297Ala) c.257A>G c.73+816A>G (n.73+816A>G) | |
| 8 | g.118110158T>G | CA371914834 | EXT1 | c.889A>C (p.Thr297Pro) c.257A>C c.73+816A>C (n.73+816A>C) | |
| 8 | g.118110158T= | CA1814088410 | EXT1 | c.889A= (p.Thr297=) c.257A= c.73+816A= (n.73+816A=) | |
| 8 | g.118110159G>A | CA462645055 | EXT1 | c.888C>T (p.Thr296=) c.256C>T c.73+815C>T (n.73+815C>T) | dbSNP |
| 8 | g.118110159G>C | CA462645054 | EXT1 | c.888C>G (p.Thr296=) c.256C>G c.73+815C>G (n.73+815C>G) | |
| 8 | g.118110159G>T | CA462645053 | EXT1 | c.888C>A (p.Thr296=) c.256C>A c.73+815C>A (n.73+815C>A) | |
| 8 | g.118110160del | CA2695210138 | EXT1 | c.888del (p.Thr297ProfsTer?) c.256del c.73+815del (n.73+815del) | |
| 8 | g.118110160G>A | CA371914837 | EXT1 | c.887C>T (p.Thr296Ile) c.255C>T c.73+814C>T (n.73+814C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.118110160G>C | CA371914836 | EXT1 | c.887C>G (p.Thr296Ser) c.255C>G c.73+814C>G (n.73+814C>G) | gnomAD v4 |
| 8 | g.118110160G= | CA1814088412 | EXT1 | c.887C= (p.Thr296=) c.255C= c.73+814C= (n.73+814C=) | |
| 8 | g.118110160G>T | CA371914835 | EXT1 | c.887C>A (p.Thr296Asn) c.255C>A c.73+814C>A (n.73+814C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.118110161T>A | CA371914838 | EXT1 | c.886A>T (p.Thr296Ser) c.254A>T c.73+813A>T (n.73+813A>T) | |
| 8 | g.118110161T>C | CA371914839 | EXT1 | c.886A>G (p.Thr296Ala) c.254A>G c.73+813A>G (n.73+813A>G) | |
| 8 | g.118110161T>G | CA371914840 | EXT1 | c.886A>C (p.Thr296Pro) c.254A>C c.73+813A>C (n.73+813A>C) | dbSNP |
| 8 | g.118110162G>A | CA462645056 | EXT1 | c.885C>T (p.Leu295=) c.253C>T c.73+812C>T (n.73+812C>T) | dbSNP gnomAD v4 |
| 8 | g.118110162G>C | CA462645057 | EXT1 | c.885C>G (p.Leu295=) c.253C>G c.73+812C>G (n.73+812C>G) | |
| 8 | g.118110162G>T | CA462645058 | EXT1 | c.885C>A (p.Leu295=) c.253C>A c.73+812C>A (n.73+812C>A) | |
| 8 | g.118110163A>C | CA371914841 | EXT1 | c.884T>G (p.Leu295Arg) c.252T>G c.73+811T>G (n.73+811T>G) | |
| 8 | g.118110163A>G | CA371914842 | EXT1 | c.884T>C (p.Leu295Pro) c.252T>C c.73+811T>C (n.73+811T>C) | dbSNP |
| 8 | g.118110163A>T | CA371914843 | EXT1 | c.884T>A (p.Leu295His) c.252T>A c.73+811T>A (n.73+811T>A) | dbSNP |
| 8 | g.118110164G>A | CA371914844 | EXT1 | c.883C>T (p.Leu295Phe) c.251C>T c.73+810C>T (n.73+810C>T) | dbSNP |
| 8 | g.118110164G>C | CA371914845 | EXT1 | c.883C>G (p.Leu295Val) c.251C>G c.73+810C>G (n.73+810C>G) | gnomAD v4 |
| 8 | g.118110164G>T | CA371914846 | EXT1 | c.883C>A (p.Leu295Ile) c.251C>A c.73+810C>A (n.73+810C>A) | |
| 8 | g.118110165G>A | CA462645059 | EXT1 | c.882C>T (p.Leu294=) c.250C>T c.73+809C>T (n.73+809C>T) | gnomAD v4 |
| 8 | g.118110165G>C | CA462645060 | EXT1 | c.882C>G (p.Leu294=) c.250C>G c.73+809C>G (n.73+809C>G) | |
| 8 | g.118110165G>T | CA462645061 | EXT1 | c.882C>A (p.Leu294=) c.250C>A c.73+809C>A (n.73+809C>A) | |
| 8 | g.118110166A>C | CA371914847 | EXT1 | c.881T>G (p.Leu294Arg) c.249T>G c.73+808T>G (n.73+808T>G) | |
| 8 | g.118110166A>G | CA371914848 | EXT1 | c.881T>C (p.Leu294Pro) c.249T>C c.73+808T>C (n.73+808T>C) | |
| 8 | g.118110166A>T | CA371914849 | EXT1 | c.881T>A (p.Leu294His) c.249T>A c.73+808T>A (n.73+808T>A) | |
| 8 | g.118110167G>A | CA371914851 | EXT1 | c.880C>T (p.Leu294Phe) c.248C>T c.73+807C>T (n.73+807C>T) | dbSNP |
| 8 | g.118110167G>C | CA4854305 | EXT1 | c.880C>G (p.Leu294Val) c.248C>G c.73+807C>G (n.73+807C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.118110167G= | CA1814088415 | EXT1 | c.880C= (p.Leu294=) c.248C= c.73+807C= (n.73+807C=) | |
| 8 | g.118110167G>T | CA371914850 | EXT1 | c.880C>A (p.Leu294Ile) c.248C>A c.73+807C>A (n.73+807C>A) | |
| 8 | g.118110168C>A | CA462645062 | EXT1 | c.879G>T (p.Val293=) c.247G>T c.73+806G>T (n.73+806G>T) | gnomAD v4 |
| 8 | g.118110168C>G | CA462645063 | EXT1 | c.879G>C (p.Val293=) c.247G>C c.73+806G>C (n.73+806G>C) | |
| 8 | g.118110168C>T | CA462645064 | EXT1 | c.879G>A (p.Val293=) c.247G>A c.73+806G>A (n.73+806G>A) | |
| 8 | g.118110169A>C | CA371914852 | EXT1 | c.878T>G (p.Val293Gly) c.246T>G c.73+805T>G (n.73+805T>G) | dbSNP |
| 8 | g.118110169A>G | CA371914853 | EXT1 | c.878T>C (p.Val293Ala) c.246T>C c.73+805T>C (n.73+805T>C) | |
| 8 | g.118110169A>T | CA371914854 | EXT1 | c.878T>A (p.Val293Glu) c.246T>A c.73+805T>A (n.73+805T>A) | dbSNP |
| 8 | g.118110170C>A | CA371914855 | EXT1 | c.877G>T (p.Val293Leu) c.245G>T c.73+804G>T (n.73+804G>T) | dbSNP COSMIC |
| 8 | g.118110170C>G | CA371914856 | EXT1 | c.877G>C (p.Val293Leu) c.245G>C c.73+804G>C (n.73+804G>C) | gnomAD v4 |
| 8 | g.118110170C>T | CA371914857 | EXT1 | c.877G>A (p.Val293Met) c.245G>A c.73+804G>A (n.73+804G>A) | |
| 8 | g.118110171A= | CA1814088418 | EXT1 | c.876T= (p.Val292=) c.244T= c.73+803T= (n.73+803T=) | |
| 8 | g.118110171A>C | CA462645065 | EXT1 | c.876T>G (p.Val292=) c.244T>G c.73+803T>G (n.73+803T>G) | |
| 8 | g.118110171A>G | CA4854306 | EXT1 | c.876T>C (p.Val292=) c.244T>C c.73+803T>C (n.73+803T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.118110171A>T | CA462645066 | EXT1 | c.876T>A (p.Val292=) c.244T>A c.73+803T>A (n.73+803T>A) | |
| 8 | g.118110172dup | CA2695210139 | EXT1 | c.876dup (p.Val293CysfsTer21) c.244dup c.73+803dup (n.73+803dup) | |
| 8 | g.118110172A>C | CA371914858 | EXT1 | c.875T>G (p.Val292Gly) c.243T>G c.73+802T>G (n.73+802T>G) | gnomAD v4 |
| 8 | g.118110172A>G | CA371914859 | EXT1 | c.875T>C (p.Val292Ala) c.243T>C c.73+802T>C (n.73+802T>C) | dbSNP |
| 8 | g.118110172A>T | CA371914860 | EXT1 | c.875T>A (p.Val292Asp) c.243T>A c.73+802T>A (n.73+802T>A) | |
| 8 | g.118110173C>A | CA371914861 | EXT1 | c.874G>T (p.Val292Phe) c.242G>T c.73+801G>T (n.73+801G>T) | ClinVar dbSNP gnomAD v4 |
| 8 | g.118110173C= | CA1814088422 | EXT1 | c.874G= (p.Val292=) c.242G= c.73+801G= (n.73+801G=) | |
| 8 | g.118110173C>G | CA371914862 | EXT1 | c.874G>C (p.Val292Leu) c.242G>C c.73+801G>C (n.73+801G>C) | |
| 8 | g.118110173C>T | CA371914863 | EXT1 | c.874G>A (p.Val292Ile) c.242G>A c.73+801G>A (n.73+801G>A) | dbSNP gnomAD v4 |
| 8 | g.118110174G>A | CA4854307 | EXT1 | c.873C>T (p.Asp291=) c.241C>T c.73+800C>T (n.73+800C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110174G>C | CA184682407 | EXT1 | c.873C>G (p.Asp291Glu) c.241C>G c.73+800C>G (n.73+800C>G) | ClinVar dbSNP |
| 8 | g.118110174G= | CA1814088427 | EXT1 | c.873C= (p.Asp291=) c.241C= c.73+800C= (n.73+800C=) | |
| 8 | g.118110174G>T | CA371914864 | EXT1 | c.873C>A (p.Asp291Glu) c.241C>A c.73+800C>A (n.73+800C>A) | gnomAD v4 |
| 8 | g.118110175T>A | CA371914865 | EXT1 | c.872A>T (p.Asp291Val) c.240A>T c.73+799A>T (n.73+799A>T) | |
| 8 | g.118110175T>C | CA371914866 | EXT1 | c.872A>G (p.Asp291Gly) c.240A>G c.73+799A>G (n.73+799A>G) | |
| 8 | g.118110175T>G | CA371914867 | EXT1 | c.872A>C (p.Asp291Ala) c.240A>C c.73+799A>C (n.73+799A>C) | dbSNP |
| 8 | g.118110175T= | CA1814088430 | EXT1 | c.872A= (p.Asp291=) c.240A= c.73+799A= (n.73+799A=) | |
| 8 | g.118110176C>A | CA371914868 | EXT1 | c.871G>T (p.Asp291Tyr) c.239G>T c.73+798G>T (n.73+798G>T) | |
| 8 | g.118110176C= | CA1814088432 | EXT1 | c.871G= (p.Asp291=) c.239G= c.73+798G= (n.73+798G=) | |
| 8 | g.118110176C>G | CA371914869 | EXT1 | c.871G>C (p.Asp291His) c.239G>C c.73+798G>C (n.73+798G>C) | |
| 8 | g.118110176C>T | CA371914870 | EXT1 | c.871G>A (p.Asp291Asn) c.239G>A c.73+798G>A (n.73+798G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.118110177C>A | CA371914871 | EXT1 | c.870G>T (p.Glu290Asp) c.238G>T c.73+797G>T (n.73+797G>T) | |
| 8 | g.118110177C>G | CA371914872 | EXT1 | c.870G>C (p.Glu290Asp) c.238G>C c.73+797G>C (n.73+797G>C) | |
| 8 | g.118110177C>T | CA462645067 | EXT1 | c.870G>A (p.Glu290=) c.238G>A c.73+797G>A (n.73+797G>A) | dbSNP |
| 8 | g.118110178T>A | CA371914873 | EXT1 | c.869A>T (p.Glu290Val) c.237A>T c.73+796A>T (n.73+796A>T) | |
| 8 | g.118110178T>C | CA371914874 | EXT1 | c.869A>G (p.Glu290Gly) c.237A>G c.73+796A>G (n.73+796A>G) | |
| 8 | g.118110178T>G | CA371914875 | EXT1 | c.869A>C (p.Glu290Ala) c.237A>C c.73+796A>C (n.73+796A>C) | |
| 8 | g.118110179C>A | CA371914876 | EXT1 | c.868G>T (p.Glu290Ter) c.236G>T c.73+795G>T (n.73+795G>T) | ClinVar dbSNP |
| 8 | g.118110179C= | CA1814088434 | EXT1 | c.868G= (p.Glu290=) c.236G= c.73+795G= (n.73+795G=) | |
| 8 | g.118110179C>G | CA4854308 | EXT1 | c.868G>C (p.Glu290Gln) c.236G>C c.73+795G>C (n.73+795G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.118110179C>T | CA371914877 | EXT1 | c.868G>A (p.Glu290Lys) c.236G>A c.73+795G>A (n.73+795G>A) | |
| 8 | g.118110181_118110182del | CA2695210140 | EXT1 | c.867_868del (p.Glu290GlyfsTer23) c.235_236del c.73+794_73+795del (n.73+794_73+795del) | |
| 8 | g.118110180C>A | CA462645068 | EXT1 | c.867G>T (p.Gly289=) c.235G>T c.73+794G>T (n.73+794G>T) | dbSNP |
| 8 | g.118110180C>G | CA462645070 | EXT1 | c.867G>C (p.Gly289=) c.235G>C c.73+794G>C (n.73+794G>C) | |
| 8 | g.118110180C>T | CA462645069 | EXT1 | c.867G>A (p.Gly289=) c.235G>A c.73+794G>A (n.73+794G>A) | |
| 8 | g.118110181C>A | CA371914879 | EXT1 | c.866G>T (p.Gly289Val) c.234G>T c.73+793G>T (n.73+793G>T) | dbSNP |
| 8 | g.118110181C>G | CA371914880 | EXT1 | c.866G>C (p.Gly289Ala) c.234G>C c.73+793G>C (n.73+793G>C) | gnomAD v4 |
| 8 | g.118110181C>T | CA371914878 | EXT1 | c.866G>A (p.Gly289Glu) c.234G>A c.73+793G>A (n.73+793G>A) | dbSNP |
| 8 | g.118110182C>A | CA371914881 | EXT1 | c.865G>T (p.Gly289Trp) c.233G>T c.73+792G>T (n.73+792G>T) | dbSNP |
| 8 | g.118110182C>G | CA371914882 | EXT1 | c.865G>C (p.Gly289Arg) c.233G>C c.73+792G>C (n.73+792G>C) | |
| 8 | g.118110182C>T | CA371914883 | EXT1 | c.865G>A (p.Gly289Arg) c.233G>A c.73+792G>A (n.73+792G>A) | dbSNP |
| 8 | g.118110183del | CA2695210141 | EXT1 | c.864del (p.Asn288LysfsTer?) c.232del c.73+791del (n.73+791del) | |
| 8 | g.118110183G>A | CA462645071 | EXT1 | c.864C>T (p.Asn288=) c.232C>T c.73+791C>T (n.73+791C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110183G>C | CA371914884 | EXT1 | c.864C>G (p.Asn288Lys) c.232C>G c.73+791C>G (n.73+791C>G) | dbSNP |
| 8 | g.118110183G= | CA1814088438 | EXT1 | c.864C= (p.Asn288=) c.232C= c.73+791C= (n.73+791C=) | |
| 8 | g.118110183G>T | CA371914885 | EXT1 | c.864C>A (p.Asn288Lys) c.232C>A c.73+791C>A (n.73+791C>A) | COSMIC |
| 8 | g.118110184T>A | CA371914886 | EXT1 | c.863A>T (p.Asn288Ile) c.231A>T c.73+790A>T (n.73+790A>T) | |
| 8 | g.118110184T>C | CA371914887 | EXT1 | c.863A>G (p.Asn288Ser) c.231A>G c.73+790A>G (n.73+790A>G) | gnomAD v4 |
| 8 | g.118110184T>G | CA371914888 | EXT1 | c.863A>C (p.Asn288Thr) c.231A>C c.73+790A>C (n.73+790A>C) | gnomAD v4 |
| 8 | g.118110185T>A | CA371914889 | EXT1 | c.862A>T (p.Asn288Tyr) c.230A>T c.73+789A>T (n.73+789A>T) | |
| 8 | g.118110185T>C | CA371914890 | EXT1 | c.862A>G (p.Asn288Asp) c.230A>G c.73+789A>G (n.73+789A>G) | |
| 8 | g.118110185T>G | CA371914891 | EXT1 | c.862A>C (p.Asn288His) c.230A>C c.73+789A>C (n.73+789A>C) | |
| 8 | g.118110186A>C | CA371914892 | EXT1 | c.861T>G (p.His287Gln) c.229T>G c.73+788T>G (n.73+788T>G) | |
| 8 | g.118110186A>G | CA462645072 | EXT1 | c.861T>C (p.His287=) c.229T>C c.73+788T>C (n.73+788T>C) | |
| 8 | g.118110186A>T | CA371914893 | EXT1 | c.861T>A (p.His287Gln) c.229T>A c.73+788T>A (n.73+788T>A) | |
| 8 | g.118110187T>A | CA371914894 | EXT1 | c.860A>T (p.His287Leu) c.228A>T c.73+787A>T (n.73+787A>T) | dbSNP |
| 8 | g.118110187T>C | CA371914896 | EXT1 | c.860A>G (p.His287Arg) c.228A>G c.73+787A>G (n.73+787A>G) | dbSNP gnomAD v4 |
| 8 | g.118110187T>G | CA371914895 | EXT1 | c.860A>C (p.His287Pro) c.228A>C c.73+787A>C (n.73+787A>C) | gnomAD v4 |
| 8 | g.118110187T= | CA1814088440 | EXT1 | c.860A= (p.His287=) c.228A= c.73+787A= (n.73+787A=) | |
| 8 | g.118110188G>A | CA371914897 | EXT1 | c.859C>T (p.His287Tyr) c.227C>T c.73+786C>T (n.73+786C>T) | |
| 8 | g.118110188G>C | CA371914898 | EXT1 | c.859C>G (p.His287Asp) c.227C>G c.73+786C>G (n.73+786C>G) | |
| 8 | g.118110188G>T | CA371914899 | EXT1 | c.859C>A (p.His287Asn) c.227C>A c.73+786C>A (n.73+786C>A) | |
| 8 | g.118110189del | CA2695210142 | EXT1 | c.859del (p.His287IlefsTer?) c.227del c.73+786del (n.73+786del) | |
| 8 | g.118110189G>A | CA462645073 | EXT1 | c.858C>T (p.Val286=) c.226C>T c.73+785C>T (n.73+785C>T) | gnomAD v4 |
| 8 | g.118110189G>C | CA462645074 | EXT1 | c.858C>G (p.Val286=) c.226C>G c.73+785C>G (n.73+785C>G) | dbSNP |
| 8 | g.118110189G>T | CA462645075 | EXT1 | c.858C>A (p.Val286=) c.226C>A c.73+785C>A (n.73+785C>A) | |
| 8 | g.118110190A>C | CA371914900 | EXT1 | c.857T>G (p.Val286Gly) c.225T>G c.73+784T>G (n.73+784T>G) | |
| 8 | g.118110190A>G | CA371914901 | EXT1 | c.857T>C (p.Val286Ala) c.225T>C c.73+784T>C (n.73+784T>C) | |
| 8 | g.118110190A>T | CA371914902 | EXT1 | c.857T>A (p.Val286Asp) c.225T>A c.73+784T>A (n.73+784T>A) | |
| 8 | g.118110191C>A | CA4854309 | EXT1 | c.856G>T (p.Val286Phe) c.224G>T c.73+783G>T (n.73+783G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110191C= | CA1814088442 | EXT1 | c.856G= (p.Val286=) c.224G= c.73+783G= (n.73+783G=) | |
| 8 | g.118110191C>G | CA371914903 | EXT1 | c.856G>C (p.Val286Leu) c.224G>C c.73+783G>C (n.73+783G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.118110191C>T | CA371914904 | EXT1 | c.856G>A (p.Val286Ile) c.224G>A c.73+783G>A (n.73+783G>A) | dbSNP |
| 8 | g.118110192G>A | CA462645076 | EXT1 | c.855C>T (p.His285=) c.223C>T c.73+782C>T (n.73+782C>T) | ClinVar dbSNP gnomAD v4 |
| 8 | g.118110192G>C | CA371914905 | EXT1 | c.855C>G (p.His285Gln) c.223C>G c.73+782C>G (n.73+782C>G) | |
| 8 | g.118110192G= | CA1814088445 | EXT1 | c.855C= (p.His285=) c.223C= c.73+782C= (n.73+782C=) | |
| 8 | g.118110192G>T | CA371914906 | EXT1 | c.855C>A (p.His285Gln) c.223C>A c.73+782C>A (n.73+782C>A) | |
| 8 | g.118110193T>A | CA371914909 | EXT1 | c.854A>T (p.His285Leu) c.222A>T c.73+781A>T (n.73+781A>T) | |
| 8 | g.118110193T>C | CA371914908 | EXT1 | c.854A>G (p.His285Arg) c.222A>G c.73+781A>G (n.73+781A>G) | |
| 8 | g.118110193T>G | CA371914907 | EXT1 | c.854A>C (p.His285Pro) c.222A>C c.73+781A>C (n.73+781A>C) | dbSNP gnomAD v4 |
| 8 | g.118110193T= | CA1814088449 | EXT1 | c.854A= (p.His285=) c.222A= c.73+781A= (n.73+781A=) | |
| 8 | g.118110193dup | CA16618589 | EXT1 | c.854dup (p.His285GlnfsTer4) c.222dup c.73+781dup (n.73+781dup) | ClinVar dbSNP |
| 8 | g.118110194G>A | CA371914911 | EXT1 | c.853C>T (p.His285Tyr) c.221C>T c.73+780C>T (n.73+780C>T) | dbSNP |
| 8 | g.118110194G>C | CA371914910 | EXT1 | c.853C>G (p.His285Asp) c.221C>G c.73+780C>G (n.73+780C>G) | |
| 8 | g.118110194G>T | CA371914912 | EXT1 | c.853C>A (p.His285Asn) c.221C>A c.73+780C>A (n.73+780C>A) | |
| 8 | g.118110195A= | CA1814088454 | EXT1 | c.852T= (p.Tyr284=) c.220T= c.73+779T= (n.73+779T=) | |
| 8 | g.118110195A>C | CA371914913 | EXT1 | c.852T>G (p.Tyr284Ter) c.220T>G c.73+779T>G (n.73+779T>G) | |
| 8 | g.118110195A>G | CA462645077 | EXT1 | c.852T>C (p.Tyr284=) c.220T>C c.73+779T>C (n.73+779T>C) | |
| 8 | g.118110195A>T | CA16605945 | EXT1 | c.852T>A (p.Tyr284Ter) c.220T>A c.73+779T>A (n.73+779T>A) | ClinVar dbSNP |
| 8 | g.118110195dup | CA2695210143 | EXT1 | c.852dup (p.His285SerfsTer4) c.220dup c.73+779dup (n.73+779dup) | |
| 8 | g.118110196T>A | CA371914914 | EXT1 | c.851A>T (p.Tyr284Phe) c.219A>T c.73+778A>T (n.73+778A>T) | |
| 8 | g.118110196T>C | CA371914915 | EXT1 | c.851A>G (p.Tyr284Cys) c.219A>G c.73+778A>G (n.73+778A>G) | gnomAD v4 |
| 8 | g.118110196T>G | CA371914916 | EXT1 | c.851A>C (p.Tyr284Ser) c.219A>C c.73+778A>C (n.73+778A>C) | |
| 8 | g.118110197A= | CA1814088456 | EXT1 | c.850T= (p.Tyr284=) c.218T= c.73+777T= (n.73+777T=) | |
| 8 | g.118110197A>C | CA371914917 | EXT1 | c.850T>G (p.Tyr284Asp) c.218T>G c.73+777T>G (n.73+777T>G) | |
| 8 | g.118110197A>G | CA371914918 | EXT1 | c.850T>C (p.Tyr284His) c.218T>C c.73+777T>C (n.73+777T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.118110197A>T | CA371914919 | EXT1 | c.850T>A (p.Tyr284Asn) c.218T>A c.73+777T>A (n.73+777T>A) | dbSNP gnomAD v3 gnomAD v4 |