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.118110143del | CA2695210136 | EXT1 | c.906del (p.Asp303ThrfsTer?) c.274del c.73+833del (n.73+833del) | |
| 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 |
| 8 | g.118110198T>A | CA371914920 | EXT1 | c.849A>T (p.Leu283Phe) c.217A>T c.73+776A>T (n.73+776A>T) | |
| 8 | g.118110198T>C | CA462645078 | EXT1 | c.849A>G (p.Leu283=) c.217A>G c.73+776A>G (n.73+776A>G) | |
| 8 | g.118110198T>G | CA371914921 | EXT1 | c.849A>C (p.Leu283Phe) c.217A>C c.73+776A>C (n.73+776A>C) | |
| 8 | g.118110199A>C | CA371914922 | EXT1 | c.848T>G (p.Leu283Ter) c.216T>G c.73+775T>G (n.73+775T>G) | |
| 8 | g.118110199A>G | CA371914923 | EXT1 | c.848T>C (p.Leu283Ser) c.216T>C c.73+775T>C (n.73+775T>C) | |
| 8 | g.118110199A>T | CA371914924 | EXT1 | c.848T>A (p.Leu283Ter) c.216T>A c.73+775T>A (n.73+775T>A) | gnomAD v4 |
| 8 | g.118110200A>C | CA371914926 | EXT1 | c.847T>G (p.Leu283Val) c.215T>G c.73+774T>G (n.73+774T>G) | |
| 8 | g.118110200A>G | CA462645079 | EXT1 | c.847T>C (p.Leu283=) c.215T>C c.73+774T>C (n.73+774T>C) | |
| 8 | g.118110200A>T | CA371914925 | EXT1 | c.847T>A (p.Leu283Ile) c.215T>A c.73+774T>A (n.73+774T>A) | |
| 8 | g.118110200_118110201delinsAG | CA1814088461 | EXT1 | c.846_847delinsCT (p.Ala282=) c.214_215delinsCT c.73+773_73+774delinsCT (n.73+773_73+774delinsCT) | |
| 8 | g.118110201G>A | CA462645080 | EXT1 | c.846C>T (p.Ala282=) c.214C>T c.73+773C>T (n.73+773C>T) | |
| 8 | g.118110201G>C | CA462645081 | EXT1 | c.846C>G (p.Ala282=) c.214C>G c.73+773C>G (n.73+773C>G) | gnomAD v4 |
| 8 | g.118110201G>T | CA462645082 | EXT1 | c.846C>A (p.Ala282=) c.214C>A c.73+773C>A (n.73+773C>A) | |
| 8 | g.118110202del | CA658797139 | EXT1 | c.846del (p.Leu283TyrfsTer?) c.214del c.73+773del (n.73+773del) | ClinVar dbSNP |
| 8 | g.118110202G>A | CA184682410 | EXT1 | c.845C>T (p.Ala282Val) c.213C>T c.73+772C>T (n.73+772C>T) | ClinVar dbSNP |
| 8 | g.118110202G>C | CA371914927 | EXT1 | c.845C>G (p.Ala282Gly) c.213C>G c.73+772C>G (n.73+772C>G) | |
| 8 | g.118110202G= | CA1814088464 | EXT1 | c.845C= (p.Ala282=) c.213C= c.73+772C= (n.73+772C=) | |
| 8 | g.118110202G>T | CA371914928 | EXT1 | c.845C>A (p.Ala282Asp) c.213C>A c.73+772C>A (n.73+772C>A) | dbSNP |
| 8 | g.118110203C>A | CA371914929 | EXT1 | c.844G>T (p.Ala282Ser) c.212G>T c.73+771G>T (n.73+771G>T) | |
| 8 | g.118110203C>G | CA371914930 | EXT1 | c.844G>C (p.Ala282Pro) c.212G>C c.73+771G>C (n.73+771G>C) | dbSNP |
| 8 | g.118110203C>T | CA371914931 | EXT1 | c.844G>A (p.Ala282Thr) c.212G>A c.73+771G>A (n.73+771G>A) | ClinVar gnomAD v4 |
| 8 | g.118110204A>C | CA371914932 | EXT1 | c.843T>G (p.Asn281Lys) c.211T>G c.73+770T>G (n.73+770T>G) | |
| 8 | g.118110204A>G | CA462645083 | EXT1 | c.843T>C (p.Asn281=) c.211T>C c.73+770T>C (n.73+770T>C) | gnomAD v4 |
| 8 | g.118110204A>T | CA371914933 | EXT1 | c.843T>A (p.Asn281Lys) c.211T>A c.73+770T>A (n.73+770T>A) | |
| 8 | g.118110205T>A | CA371914934 | EXT1 | c.842A>T (p.Asn281Ile) c.210A>T c.73+769A>T (n.73+769A>T) | |
| 8 | g.118110205T>C | CA371914935 | EXT1 | c.842A>G (p.Asn281Ser) c.210A>G c.73+769A>G (n.73+769A>G) | |
| 8 | g.118110205T>G | CA371914936 | EXT1 | c.842A>C (p.Asn281Thr) c.210A>C c.73+769A>C (n.73+769A>C) | ClinVar |
| 8 | g.118110206T>A | CA371914937 | EXT1 | c.841A>T (p.Asn281Tyr) c.209A>T c.73+768A>T (n.73+768A>T) | |
| 8 | g.118110206T>C | CA371914938 | EXT1 | c.841A>G (p.Asn281Asp) c.209A>G c.73+768A>G (n.73+768A>G) | dbSNP |
| 8 | g.118110206T>G | CA371914939 | EXT1 | c.841A>C (p.Asn281His) c.209A>C c.73+768A>C (n.73+768A>C) | |
| 8 | g.118110206T= | CA1814088467 | EXT1 | c.841A= (p.Asn281=) c.209A= c.73+768A= (n.73+768A=) | |
| 8 | g.118110207C>A | CA371914940 | EXT1 | c.840G>T (p.Arg280Ser) c.208G>T c.73+767G>T (n.73+767G>T) | |
| 8 | g.118110207C= | CA1814088470 | EXT1 | c.840G= (p.Arg280=) c.208G= c.73+767G= (n.73+767G=) | |
| 8 | g.118110207C>G | CA371914941 | EXT1 | c.840G>C (p.Arg280Ser) c.208G>C c.73+767G>C (n.73+767G>C) | ClinVar dbSNP |
| 8 | g.118110207C>T | CA462645084 | EXT1 | c.840G>A (p.Arg280=) c.208G>A c.73+767G>A (n.73+767G>A) | |
| 8 | g.118110208C>A | CA371914942 | EXT1 | c.839G>T (p.Arg280Met) c.207G>T c.73+766G>T (n.73+766G>T) | |
| 8 | g.118110208C= | CA1814088473 | EXT1 | c.839G= (p.Arg280=) c.207G= c.73+766G= (n.73+766G=) | |
| 8 | g.118110208C>G | CA371914943 | EXT1 | c.839G>C (p.Arg280Thr) c.207G>C c.73+766G>C (n.73+766G>C) | ClinVar dbSNP |
| 8 | g.118110208C>T | CA371914944 | EXT1 | c.839G>A (p.Arg280Lys) c.207G>A c.73+766G>A (n.73+766G>A) | |
| 8 | g.118110208_118110209del | CA2695210144 | EXT1 | c.838_839del (p.Arg280GlufsTer8) c.206_207del c.73+765_73+766del (n.73+765_73+766del) | |
| 8 | g.118110209T>A | CA371914945 | EXT1 | c.838A>T (p.Arg280Trp) c.206A>T c.73+765A>T (n.73+765A>T) | ClinVar |
| 8 | g.118110209T>C | CA371914946 | EXT1 | c.838A>G (p.Arg280Gly) c.206A>G c.73+765A>G (n.73+765A>G) | ClinVar dbSNP |
| 8 | g.118110209T>G | CA462645085 | EXT1 | c.838A>C (p.Arg280=) c.206A>C c.73+765A>C (n.73+765A>C) | |
| 8 | g.118110209T= | CA1814088481 | EXT1 | c.838A= (p.Arg280=) c.206A= c.73+765A= (n.73+765A=) | |
| 8 | g.118110210G>A | CA462645086 | EXT1 | c.837C>T (p.Thr279=) c.205C>T c.73+764C>T (n.73+764C>T) | dbSNP |
| 8 | g.118110210G>C | CA462645087 | EXT1 | c.837C>G (p.Thr279=) c.205C>G c.73+764C>G (n.73+764C>G) | |
| 8 | g.118110210G>T | CA462645088 | EXT1 | c.837C>A (p.Thr279=) c.205C>A c.73+764C>A (n.73+764C>A) | |
| 8 | g.118110211dup | CA2573142822 | EXT1 | c.837dup (p.Arg280GlnfsTer9) c.205dup c.73+764dup (n.73+764dup) | ClinVar dbSNP |
| 8 | g.118110211del | CA2718211743 | EXT1 | c.837del (p.Arg280GlyfsTer?) c.205del c.73+764del (n.73+764del) | dbSNP |
| 8 | g.118110211G>A | CA371914947 | EXT1 | c.836C>T (p.Thr279Ile) c.204C>T c.73+763C>T (n.73+763C>T) | |
| 8 | g.118110211G>C | CA371914948 | EXT1 | c.836C>G (p.Thr279Ser) c.204C>G c.73+763C>G (n.73+763C>G) | |
| 8 | g.118110211G>T | CA371914949 | EXT1 | c.836C>A (p.Thr279Asn) c.204C>A c.73+763C>A (n.73+763C>A) | |
| 8 | g.118110212T>A | CA371914950 | EXT1 | c.835A>T (p.Thr279Ser) c.203A>T c.73+762A>T (n.73+762A>T) | |
| 8 | g.118110212T>C | CA371914951 | EXT1 | c.835A>G (p.Thr279Ala) c.203A>G c.73+762A>G (n.73+762A>G) | |
| 8 | g.118110212T>G | CA371914952 | EXT1 | c.835A>C (p.Thr279Pro) c.203A>C c.73+762A>C (n.73+762A>C) | |
| 8 | g.118110213G>A | CA462645089 | EXT1 | c.834C>T (p.Asp278=) c.202C>T c.73+761C>T (n.73+761C>T) | |
| 8 | g.118110213G>C | CA371914953 | EXT1 | c.834C>G (p.Asp278Glu) c.202C>G c.73+761C>G (n.73+761C>G) | |
| 8 | g.118110213G>T | CA371914954 | EXT1 | c.834C>A (p.Asp278Glu) c.202C>A c.73+761C>A (n.73+761C>A) | gnomAD v4 |
| 8 | g.118110214T>A | CA371914955 | EXT1 | c.833A>T (p.Asp278Val) c.201A>T c.73+760A>T (n.73+760A>T) | |
| 8 | g.118110214T>C | CA371914956 | EXT1 | c.833A>G (p.Asp278Gly) c.201A>G c.73+760A>G (n.73+760A>G) | |
| 8 | g.118110214T>G | CA4854310 | EXT1 | c.833A>C (p.Asp278Ala) c.201A>C c.73+760A>C (n.73+760A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.118110214T= | CA1814088485 | EXT1 | c.833A= (p.Asp278=) c.201A= c.73+760A= (n.73+760A=) | |
| 8 | g.118110215C>A | CA371914957 | EXT1 | c.832G>T (p.Asp278Tyr) c.200G>T c.73+759G>T (n.73+759G>T) | ClinVar dbSNP |
| 8 | g.118110215C>G | CA371914958 | EXT1 | c.832G>C (p.Asp278His) c.200G>C c.73+759G>C (n.73+759G>C) | dbSNP |
| 8 | g.118110215C>T | CA371914959 | EXT1 | c.832G>A (p.Asp278Asn) c.200G>A c.73+759G>A (n.73+759G>A) | |
| 8 | g.118110216T>A | CA462645090 | EXT1 | c.831A>T (p.Ser277=) c.199A>T c.73+758A>T (n.73+758A>T) | |
| 8 | g.118110216T>C | CA4854311 | EXT1 | c.831A>G (p.Ser277=) c.199A>G c.73+758A>G (n.73+758A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.118110216T>G | CA462645091 | EXT1 | c.831A>C (p.Ser277=) c.199A>C c.73+758A>C (n.73+758A>C) | |
| 8 | g.118110216T= | CA1814088491 | EXT1 | c.831A= (p.Ser277=) c.199A= c.73+758A= (n.73+758A=) | |
| 8 | g.118110217G>A | CA371914962 | EXT1 | c.830C>T (p.Ser277Leu) c.198C>T c.73+757C>T (n.73+757C>T) | dbSNP COSMIC |
| 8 | g.118110217G>C | CA371914961 | EXT1 | c.830C>G (p.Ser277Ter) c.198C>G c.73+757C>G (n.73+757C>G) | ClinVar |
| 8 | g.118110217G>T | CA371914960 | EXT1 | c.830C>A (p.Ser277Ter) c.198C>A c.73+757C>A (n.73+757C>A) | |
| 8 | g.118110218A= | CA1814088494 | EXT1 | c.829T= (p.Ser277=) c.197T= c.73+756T= (n.73+756T=) | |
| 8 | g.118110218A>C | CA371914963 | EXT1 | c.829T>G (p.Ser277Ala) c.197T>G c.73+756T>G (n.73+756T>G) | dbSNP |
| 8 | g.118110218A>G | CA371914964 | EXT1 | c.829T>C (p.Ser277Pro) c.197T>C c.73+756T>C (n.73+756T>C) | |
| 8 | g.118110218A>T | CA371914965 | EXT1 | c.829T>A (p.Ser277Thr) c.197T>A c.73+756T>A (n.73+756T>A) | |
| 8 | g.118110219T>A | CA462645092 | EXT1 | c.828A>T (p.Gly276=) c.196A>T c.73+755A>T (n.73+755A>T) | |
| 8 | g.118110219T>C | CA462645093 | EXT1 | c.828A>G (p.Gly276=) c.196A>G c.73+755A>G (n.73+755A>G) | COSMIC |
| 8 | g.118110219T>G | CA462645094 | EXT1 | c.828A>C (p.Gly276=) c.196A>C c.73+755A>C (n.73+755A>C) | |
| 8 | g.118110220C>A | CA371914966 | EXT1 | c.827G>T (p.Gly276Val) c.195G>T c.73+754G>T (n.73+754G>T) | |
| 8 | g.118110220C= | CA1814088495 | EXT1 | c.827G= (p.Gly276=) c.195G= c.73+754G= (n.73+754G=) | |
| 8 | g.118110220C>G | CA371914967 | EXT1 | c.827G>C (p.Gly276Ala) c.195G>C c.73+754G>C (n.73+754G>C) | |
| 8 | g.118110220C>T | CA184682413 | EXT1 | c.827G>A (p.Gly276Glu) c.195G>A c.73+754G>A (n.73+754G>A) | dbSNP |
| 8 | g.118110221C>A | CA371914968 | EXT1 | c.826G>T (p.Gly276Ter) c.194G>T c.73+753G>T (n.73+753G>T) | dbSNP |
| 8 | g.118110221C>G | CA371914970 | EXT1 | c.826G>C (p.Gly276Arg) c.194G>C c.73+753G>C (n.73+753G>C) | |
| 8 | g.118110221C>T | CA371914969 | EXT1 | c.826G>A (p.Gly276Arg) c.194G>A c.73+753G>A (n.73+753G>A) | dbSNP |
| 8 | g.118110222T>A | CA462645096 | EXT1 | c.825A>T (p.Ile275=) c.193A>T c.73+752A>T (n.73+752A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110222T>C | CA371914971 | EXT1 | c.825A>G (p.Ile275Met) c.193A>G c.73+752A>G (n.73+752A>G) | |
| 8 | g.118110222T>G | CA462645095 | EXT1 | c.825A>C (p.Ile275=) c.193A>C c.73+752A>C (n.73+752A>C) | |
| 8 | g.118110222T= | CA1814088498 | EXT1 | c.825A= (p.Ile275=) c.193A= c.73+752A= (n.73+752A=) | |
| 8 | g.118110223A>C | CA371914972 | EXT1 | c.824T>G (p.Ile275Arg) c.192T>G c.73+751T>G (n.73+751T>G) | |
| 8 | g.118110223A>G | CA371914973 | EXT1 | c.824T>C (p.Ile275Thr) c.192T>C c.73+751T>C (n.73+751T>C) | |
| 8 | g.118110223A>T | CA371914974 | EXT1 | c.824T>A (p.Ile275Lys) c.192T>A c.73+751T>A (n.73+751T>A) | |
| 8 | g.118110223_118110229delinsATCCCTG | CA1814088501 | EXT1 | c.818_824delinsCAGGGAT (p.Thr273=) c.186_192delinsCAGGGAT c.73+745_73+751delinsCAGGGAT (n.73+745_73+751delinsCAGGGAT) | |
| 8 | g.118110224T>A | CA371914975 | EXT1 | c.823A>T (p.Ile275Leu) c.191A>T c.73+750A>T (n.73+750A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.118110224T>C | CA4854312 | EXT1 | c.823A>G (p.Ile275Val) c.191A>G c.73+750A>G (n.73+750A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.118110224T>G | CA371914976 | EXT1 | c.823A>C (p.Ile275Leu) c.191A>C c.73+750A>C (n.73+750A>C) | |
| 8 | g.118110224T= | CA1814088509 | EXT1 | c.823A= (p.Ile275=) c.191A= c.73+750A= (n.73+750A=) | |
| 8 | g.118110224_118110225delinsTC | CA1814088505 | EXT1 | c.822_823delinsGA (p.Gly274=) c.190_191delinsGA c.73+749_73+750delinsGA (n.73+749_73+750delinsGA) | |
| 8 | g.118110224_118110229delinsGCCTT | CA1139660740 | EXT1 | c.818_823delinsAAGGC (p.Thr273LysfsTer3) c.186_191delinsAAGGC c.73+745_73+750delinsAAGGC (n.73+745_73+750delinsAAGGC) | ClinVar dbSNP |
| 8 | g.118110225C>A | CA462645097 | EXT1 | c.822G>T (p.Gly274=) c.190G>T c.73+749G>T (n.73+749G>T) | gnomAD v4 |
| 8 | g.118110225C>G | CA462645098 | EXT1 | c.822G>C (p.Gly274=) c.190G>C c.73+749G>C (n.73+749G>C) | dbSNP COSMIC |
| 8 | g.118110225C>T | CA462645099 | EXT1 | c.822G>A (p.Gly274=) c.190G>A c.73+749G>A (n.73+749G>A) | |
| 8 | g.118110227del | CA1139660741 | EXT1 | c.822del (p.Ile275Ter) c.190del c.73+749del (n.73+749del) | ClinVar dbSNP |
| 8 | g.118110226_118110227del | CA2695210145 | EXT1 | c.821_822del (p.Gly274AspfsTer14) c.189_190del c.73+748_73+749del (n.73+748_73+749del) | |
| 8 | g.118110226C>A | CA371914977 | EXT1 | c.821G>T (p.Gly274Val) c.189G>T c.73+748G>T (n.73+748G>T) | |
| 8 | g.118110226C>G | CA371914979 | EXT1 | c.821G>C (p.Gly274Ala) c.189G>C c.73+748G>C (n.73+748G>C) | |
| 8 | g.118110226C>T | CA371914978 | EXT1 | c.821G>A (p.Gly274Glu) c.189G>A c.73+748G>A (n.73+748G>A) | |
| 8 | g.118110226_118110228delinsCCT | CA1814088514 | EXT1 | c.819_821delinsAGG (p.Thr273=) c.187_189delinsAGG c.73+746_73+748delinsAGG (n.73+746_73+748delinsAGG) | |
| 8 | g.118110227C>A | CA371914980 | EXT1 | c.820G>T (p.Gly274Trp) c.188G>T c.73+747G>T (n.73+747G>T) | |
| 8 | g.118110227C>G | CA371914981 | EXT1 | c.820G>C (p.Gly274Arg) c.188G>C c.73+747G>C (n.73+747G>C) | dbSNP |
| 8 | g.118110227C>T | CA371914982 | EXT1 | c.820G>A (p.Gly274Arg) c.188G>A c.73+747G>A (n.73+747G>A) | |
| 8 | g.118110227_118110228del | CA10602972 | EXT1 | c.819_820del (p.Gly274AspfsTer14) c.187_188del c.73+746_73+747del (n.73+746_73+747del) | ClinVar dbSNP |
| 8 | g.118110228T>A | CA462645101 | EXT1 | c.819A>T (p.Thr273=) c.187A>T c.73+746A>T (n.73+746A>T) | dbSNP |
| 8 | g.118110228T>C | CA462645103 | EXT1 | c.819A>G (p.Thr273=) c.187A>G c.73+746A>G (n.73+746A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110228T>G | CA462645105 | EXT1 | c.819A>C (p.Thr273=) c.187A>C c.73+746A>C (n.73+746A>C) | |
| 8 | g.118110228T= | CA1814088521 | EXT1 | c.819A= (p.Thr273=) c.187A= c.73+746A= (n.73+746A=) | |
| 8 | g.118110229G>A | CA371914985 | EXT1 | c.818C>T (p.Thr273Ile) c.186C>T c.73+745C>T (n.73+745C>T) | |
| 8 | g.118110229G>C | CA371914983 | EXT1 | c.818C>G (p.Thr273Arg) c.186C>G c.73+745C>G (n.73+745C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.118110229G= | CA1814088523 | EXT1 | c.818C= (p.Thr273=) c.186C= c.73+745C= (n.73+745C=) | |
| 8 | g.118110229G>T | CA371914984 | EXT1 | c.818C>A (p.Thr273Lys) c.186C>A c.73+745C>A (n.73+745C>A) | |
| 8 | g.118110230T>A | CA371914986 | EXT1 | c.817A>T (p.Thr273Ser) c.185A>T c.73+744A>T (n.73+744A>T) | dbSNP COSMIC |
| 8 | g.118110230T>C | CA4854313 | EXT1 | c.817A>G (p.Thr273Ala) c.185A>G c.73+744A>G (n.73+744A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110230T>G | CA371914987 | EXT1 | c.817A>C (p.Thr273Pro) c.185A>C c.73+744A>C (n.73+744A>C) | |
| 8 | g.118110230T= | CA1814088525 | EXT1 | c.817A= (p.Thr273=) c.185A= c.73+744A= (n.73+744A=) | |
| 8 | g.118110231C>A | CA462645110 | EXT1 | c.816G>T (p.Leu272=) c.184G>T c.73+743G>T (n.73+743G>T) | |
| 8 | g.118110231C>G | CA462645111 | EXT1 | c.816G>C (p.Leu272=) c.184G>C c.73+743G>C (n.73+743G>C) | |
| 8 | g.118110231C>T | CA462645113 | EXT1 | c.816G>A (p.Leu272=) c.184G>A c.73+743G>A (n.73+743G>A) | dbSNP gnomAD v4 |
| 8 | g.118110232del | CA2695210146 | EXT1 | c.815del (p.Leu272ArgfsTer4) c.183del c.73+742del (n.73+742del) | |
| 8 | g.118110232A>C | CA371914988 | EXT1 | c.815T>G (p.Leu272Arg) c.183T>G c.73+742T>G (n.73+742T>G) | |
| 8 | g.118110232A>G | CA371914989 | EXT1 | c.815T>C (p.Leu272Pro) c.183T>C c.73+742T>C (n.73+742T>C) | COSMIC |
| 8 | g.118110232A>T | CA371914990 | EXT1 | c.815T>A (p.Leu272Gln) c.183T>A c.73+742T>A (n.73+742T>A) | |
| 8 | g.118110233G>A | CA462645117 | EXT1 | c.814C>T (p.Leu272=) c.182C>T c.73+741C>T (n.73+741C>T) | |
| 8 | g.118110233G>C | CA371914991 | EXT1 | c.814C>G (p.Leu272Val) c.182C>G c.73+741C>G (n.73+741C>G) | |
| 8 | g.118110233G>T | CA371914992 | EXT1 | c.814C>A (p.Leu272Met) c.182C>A c.73+741C>A (n.73+741C>A) | dbSNP |
| 8 | g.118110234G>A | CA462645120 | EXT1 | c.813C>T (p.Tyr271=) c.181C>T c.73+740C>T (n.73+740C>T) | dbSNP |
| 8 | g.118110234G>C | CA371914993 | EXT1 | c.813C>G (p.Tyr271Ter) c.181C>G c.73+740C>G (n.73+740C>G) | |
| 8 | g.118110234G>T | CA371914994 | EXT1 | c.813C>A (p.Tyr271Ter) c.181C>A c.73+740C>A (n.73+740C>A) | COSMIC |
| 8 | g.118110235T>A | CA371914995 | EXT1 | c.812A>T (p.Tyr271Phe) c.180A>T c.73+739A>T (n.73+739A>T) | |
| 8 | g.118110235T>C | CA16618590 | EXT1 | c.812A>G (p.Tyr271Cys) c.180A>G c.73+739A>G (n.73+739A>G) | ClinVar dbSNP |
| 8 | g.118110235T>G | CA371914996 | EXT1 | c.812A>C (p.Tyr271Ser) c.180A>C c.73+739A>C (n.73+739A>C) | |
| 8 | g.118110235T= | CA1814088530 | EXT1 | c.812A= (p.Tyr271=) c.180A= c.73+739A= (n.73+739A=) | |
| 8 | g.118110236A>C | CA371914997 | EXT1 | c.811T>G (p.Tyr271Asp) c.179T>G c.73+738T>G (n.73+738T>G) | |
| 8 | g.118110236A>G | CA371914999 | EXT1 | c.811T>C (p.Tyr271His) c.179T>C c.73+738T>C (n.73+738T>C) | |
| 8 | g.118110236A>T | CA371914998 | EXT1 | c.811T>A (p.Tyr271Asn) c.179T>A c.73+738T>A (n.73+738T>A) | dbSNP |
| 8 | g.118110236_118110239delinsACCT | CA1814088532 | EXT1 | c.808_811delinsAGGT (p.Arg270=) c.176_179delinsAGGT c.73+735_73+738delinsAGGT (n.73+735_73+738delinsAGGT) | |
| 8 | g.118110237C>A | CA371915000 | EXT1 | c.810G>T (p.Arg270Ser) c.178G>T c.73+737G>T (n.73+737G>T) | |
| 8 | g.118110237C= | CA1814088536 | EXT1 | c.810G= (p.Arg270=) c.178G= c.73+737G= (n.73+737G=) | |
| 8 | g.118110237C>G | CA371915001 | EXT1 | c.810G>C (p.Arg270Ser) c.178G>C c.73+737G>C (n.73+737G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.118110237C>T | CA462645128 | EXT1 | c.810G>A (p.Arg270=) c.178G>A c.73+737G>A (n.73+737G>A) | dbSNP gnomAD v4 |
| 8 | g.118110238_118110240del | CA238560 | EXT1 | c.808_810del (p.Arg270del) c.176_178del c.73+735_73+737del (n.73+735_73+737del) | ClinVar dbSNP |
| 8 | g.118110238C>A | CA371915002 | EXT1 | c.809G>T (p.Arg270Met) c.177G>T c.73+736G>T (n.73+736G>T) | dbSNP |
| 8 | g.118110238C= | CA1814088546 | EXT1 | c.809G= (p.Arg270=) c.177G= c.73+736G= (n.73+736G=) | |
| 8 | g.118110238C>G | CA371915003 | EXT1 | c.809G>C (p.Arg270Thr) c.177G>C c.73+736G>C (n.73+736G>C) | ClinVar gnomAD v4 |
| 8 | g.118110238C>T | CA371915004 | EXT1 | c.809G>A (p.Arg270Lys) c.177G>A c.73+736G>A (n.73+736G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.118110239T>A | CA371915005 | EXT1 | c.808A>T (p.Arg270Trp) c.176A>T c.73+735A>T (n.73+735A>T) | |
| 8 | g.118110239T>C | CA371915006 | EXT1 | c.808A>G (p.Arg270Gly) c.176A>G c.73+735A>G (n.73+735A>G) | |
| 8 | g.118110239T>G | CA462645133 | EXT1 | c.808A>C (p.Arg270=) c.176A>C c.73+735A>C (n.73+735A>C) | COSMIC |
| 8 | g.118110240C>A | CA371915007 | EXT1 | c.807G>T (p.Lys269Asn) c.175G>T c.73+734G>T (n.73+734G>T) | COSMIC |
| 8 | g.118110240C>G | CA371915008 | EXT1 | c.807G>C (p.Lys269Asn) c.175G>C c.73+734G>C (n.73+734G>C) | |
| 8 | g.118110240C>T | CA462645136 | EXT1 | c.807G>A (p.Lys269=) c.175G>A c.73+734G>A (n.73+734G>A) | gnomAD v4 |
| 8 | g.118110240_118110241insG | CA2695210147 | EXT1 | c.806_807insC (p.Lys269AsnfsTer20) c.174_175insC c.73+733_73+734insC (n.73+733_73+734insC) | |
| 8 | g.118110241T>A | CA371915009 | EXT1 | c.806A>T (p.Lys269Met) c.174A>T c.73+733A>T (n.73+733A>T) | |
| 8 | g.118110241T>C | CA371915010 | EXT1 | c.806A>G (p.Lys269Arg) c.174A>G c.73+733A>G (n.73+733A>G) | |
| 8 | g.118110241T>G | CA371915011 | EXT1 | c.806A>C (p.Lys269Thr) c.174A>C c.73+733A>C (n.73+733A>C) | |
| 8 | g.118110242T>A | CA371915012 | EXT1 | c.805A>T (p.Lys269Ter) c.173A>T c.73+732A>T (n.73+732A>T) | |
| 8 | g.118110242T>C | CA371915014 | EXT1 | c.805A>G (p.Lys269Glu) c.173A>G c.73+732A>G (n.73+732A>G) | gnomAD v4 |
| 8 | g.118110242T>G | CA371915013 | EXT1 | c.805A>C (p.Lys269Gln) c.173A>C c.73+732A>C (n.73+732A>C) | |
| 8 | g.118110243C>A | CA462645144 | EXT1 | c.804G>T (p.Gly268=) c.172G>T c.73+731G>T (n.73+731G>T) | |
| 8 | g.118110243C>G | CA462645142 | EXT1 | c.804G>C (p.Gly268=) c.172G>C c.73+731G>C (n.73+731G>C) | |
| 8 | g.118110243C>T | CA462645141 | EXT1 | c.804G>A (p.Gly268=) c.172G>A c.73+731G>A (n.73+731G>A) | gnomAD v4 |
| 8 | g.118110246del | CA2695210149 | EXT1 | c.804del (p.Lys269ArgfsTer4) c.172del c.73+731del (n.73+731del) | |
| 8 | g.118110245_118110246del | CA2695210148 | EXT1 | c.803_804del (p.Gly268GlufsTer20) c.171_172del c.73+730_73+731del (n.73+730_73+731del) |