Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.8957178G>A | CA338184707 | CA6 | c.301G>A (p.Asp101Asn) c.121G>A (p.Asp41Asn) n.99-1732G>A c.205G>A (p.Asp69Asn) c.25-1732G>A (n.25-1732G>A) c.313G>A (p.Asp105Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8957178G>C | CA338184708 | CA6 | c.301G>C (p.Asp101His) c.121G>C (p.Asp41His) n.99-1732G>C c.205G>C (p.Asp69His) c.25-1732G>C (n.25-1732G>C) c.313G>C (p.Asp105His) | |
1 | g.8957178G= | CA1152580722 | CA6 | c.301G= (p.Asp101=) c.121G= (p.Asp41=) n.99-1732G= c.205G= (p.Asp69=) c.25-1732G= (n.25-1732G=) c.313G= (p.Asp105=) | |
1 | g.8957178G>T | CA338184709 | CA6 | c.301G>T (p.Asp101Tyr) c.121G>T (p.Asp41Tyr) n.99-1732G>T c.205G>T (p.Asp69Tyr) c.25-1732G>T (n.25-1732G>T) c.313G>T (p.Asp105Tyr) | |
1 | g.8957179A= | CA1152580725 | CA6 | c.302A= (p.Asp101=) c.122A= (p.Asp41=) n.99-1731A= c.206A= (p.Asp69=) c.25-1731A= (n.25-1731A=) c.314A= (p.Asp105=) | |
1 | g.8957179A>C | CA338184711 | CA6 | c.302A>C (p.Asp101Ala) c.122A>C (p.Asp41Ala) n.99-1731A>C c.206A>C (p.Asp69Ala) c.25-1731A>C (n.25-1731A>C) c.314A>C (p.Asp105Ala) | |
1 | g.8957179A>G | CA572958 | CA6 | c.302A>G (p.Asp101Gly) c.122A>G (p.Asp41Gly) n.99-1731A>G c.206A>G (p.Asp69Gly) c.25-1731A>G (n.25-1731A>G) c.314A>G (p.Asp105Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8957179A>T | CA338184710 | CA6 | c.302A>T (p.Asp101Val) c.122A>T (p.Asp41Val) n.99-1731A>T c.206A>T (p.Asp69Val) c.25-1731A>T (n.25-1731A>T) c.314A>T (p.Asp105Val) | |
1 | g.8957180C>A | CA338184712 | CA6 | c.303C>A (p.Asp101Glu) c.123C>A (p.Asp41Glu) n.99-1730C>A c.207C>A (p.Asp69Glu) c.25-1730C>A (n.25-1730C>A) c.315C>A (p.Asp105Glu) | gnomAD v4 |
1 | g.8957180C= | CA1143367339 | CA6 | c.303C= (p.Asp101=) c.123C= (p.Asp41=) n.99-1730C= c.207C= (p.Asp69=) c.25-1730C= (n.25-1730C=) c.315C= (p.Asp105=) | |
1 | g.8957180C>G | CA338184713 | CA6 | c.303C>G (p.Asp101Glu) c.123C>G (p.Asp41Glu) n.99-1730C>G c.207C>G (p.Asp69Glu) c.25-1730C>G (n.25-1730C>G) c.315C>G (p.Asp105Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8957180C>T | CA572959 | CA6 | c.303C>T (p.Asp101=) c.123C>T (p.Asp41=) n.99-1730C>T c.207C>T (p.Asp69=) c.25-1730C>T (n.25-1730C>T) c.315C>T (p.Asp105=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957181G>A | CA572960 | CA6 | c.304G>A (p.Gly102Ser) c.124G>A (p.Gly42Ser) n.99-1729G>A c.208G>A (p.Gly70Ser) c.25-1729G>A (n.25-1729G>A) c.316G>A (p.Gly106Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.8957181G>C | CA338184714 | CA6 | c.304G>C (p.Gly102Arg) c.124G>C (p.Gly42Arg) n.99-1729G>C c.208G>C (p.Gly70Arg) c.25-1729G>C (n.25-1729G>C) c.316G>C (p.Gly106Arg) | |
1 | g.8957181G= | CA1146129864 | CA6 | c.304G= (p.Gly102=) c.124G= (p.Gly42=) n.99-1729G= c.208G= (p.Gly70=) c.25-1729G= (n.25-1729G=) c.316G= (p.Gly106=) | |
1 | g.8957181G>T | CA572961 | CA6 | c.304G>T (p.Gly102Cys) c.124G>T (p.Gly42Cys) n.99-1729G>T c.208G>T (p.Gly70Cys) c.25-1729G>T (n.25-1729G>T) c.316G>T (p.Gly106Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8957182G>A | CA338184717 | CA6 | c.305G>A (p.Gly102Asp) c.125G>A (p.Gly42Asp) n.99-1728G>A c.209G>A (p.Gly70Asp) c.25-1728G>A (n.25-1728G>A) c.317G>A (p.Gly106Asp) | gnomAD v4 |
1 | g.8957182G>C | CA338184715 | CA6 | c.305G>C (p.Gly102Ala) c.125G>C (p.Gly42Ala) n.99-1728G>C c.209G>C (p.Gly70Ala) c.25-1728G>C (n.25-1728G>C) c.317G>C (p.Gly106Ala) | |
1 | g.8957182G= | CA1152580736 | CA6 | c.305G= (p.Gly102=) c.125G= (p.Gly42=) n.99-1728G= c.209G= (p.Gly70=) c.25-1728G= (n.25-1728G=) c.317G= (p.Gly106=) | |
1 | g.8957182G>T | CA338184716 | CA6 | c.305G>T (p.Gly102Val) c.125G>T (p.Gly42Val) n.99-1728G>T c.209G>T (p.Gly70Val) c.25-1728G>T (n.25-1728G>T) c.317G>T (p.Gly106Val) | |
1 | g.8957182_8957183insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT | CA521451251 | CA6 | c.305_306insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT (p.Gly102_Thr103insTrpGluAlaGluAlaGlyGlySerLeuGluVal) c.125_126insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT (p.Gly42_Thr43insTrpGluAlaGluAlaGlyGlySerLeuGluVal) n.99-1728_99-1727insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT c.209_210insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT (p.Gly70_Thr71insTrpGluAlaGluAlaGlyGlySerLeuGluVal) c.25-1728_25-1727insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT (n.25-1728_25-1727insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT) c.317_318insTTGGGAGGCTGAGGCAGGTGGATCACTTGAGGT (p.Gly106_Thr107insTrpGluAlaGluAlaGlyGlySerLeuGluVal) | dbSNP gnomAD v2 |
1 | g.8957183C>A | CA415858685 | CA6 | c.306C>A (p.Gly102=) c.126C>A (p.Gly42=) n.99-1727C>A c.210C>A (p.Gly70=) c.25-1727C>A (n.25-1727C>A) c.318C>A (p.Gly106=) | gnomAD v4 |
1 | g.8957183C= | CA1152580744 | CA6 | c.306C= (p.Gly102=) c.126C= (p.Gly42=) n.99-1727C= c.210C= (p.Gly70=) c.25-1727C= (n.25-1727C=) c.318C= (p.Gly106=) | |
1 | g.8957183C>G | CA415858687 | CA6 | c.306C>G (p.Gly102=) c.126C>G (p.Gly42=) n.99-1727C>G c.210C>G (p.Gly70=) c.25-1727C>G (n.25-1727C>G) c.318C>G (p.Gly106=) | |
1 | g.8957183C>T | CA17706769 | CA6 | c.306C>T (p.Gly102=) c.126C>T (p.Gly42=) n.99-1727C>T c.210C>T (p.Gly70=) c.25-1727C>T (n.25-1727C>T) c.318C>T (p.Gly106=) | dbSNP gnomAD v4 |
1 | g.8957184A= | CA1152580748 | CA6 | c.307A= (p.Thr103=) c.127A= (p.Thr43=) n.99-1726A= c.211A= (p.Thr71=) c.25-1726A= (n.25-1726A=) c.319A= (p.Thr107=) | |
1 | g.8957184A>C | CA338184718 | CA6 | c.307A>C (p.Thr103Pro) c.127A>C (p.Thr43Pro) n.99-1726A>C c.211A>C (p.Thr71Pro) c.25-1726A>C (n.25-1726A>C) c.319A>C (p.Thr107Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957184A>G | CA338184719 | CA6 | c.307A>G (p.Thr103Ala) c.127A>G (p.Thr43Ala) n.99-1726A>G c.211A>G (p.Thr71Ala) c.25-1726A>G (n.25-1726A>G) c.319A>G (p.Thr107Ala) | dbSNP gnomAD v3 |
1 | g.8957184A>T | CA338184720 | CA6 | c.307A>T (p.Thr103Ser) c.127A>T (p.Thr43Ser) n.99-1726A>T c.211A>T (p.Thr71Ser) c.25-1726A>T (n.25-1726A>T) c.319A>T (p.Thr107Ser) | |
1 | g.8957185C>A | CA338184721 | CA6 | c.308C>A (p.Thr103Asn) c.128C>A (p.Thr43Asn) n.99-1725C>A c.212C>A (p.Thr71Asn) c.25-1725C>A (n.25-1725C>A) c.320C>A (p.Thr107Asn) | |
1 | g.8957185C>G | CA338184722 | CA6 | c.308C>G (p.Thr103Ser) c.128C>G (p.Thr43Ser) n.99-1725C>G c.212C>G (p.Thr71Ser) c.25-1725C>G (n.25-1725C>G) c.320C>G (p.Thr107Ser) | |
1 | g.8957185C>T | CA338184723 | CA6 | c.308C>T (p.Thr103Ile) c.128C>T (p.Thr43Ile) n.99-1725C>T c.212C>T (p.Thr71Ile) c.25-1725C>T (n.25-1725C>T) c.320C>T (p.Thr107Ile) | |
1 | g.8957186T>A | CA415858704 | CA6 | c.309T>A (p.Thr103=) c.129T>A (p.Thr43=) n.99-1724T>A c.213T>A (p.Thr71=) c.25-1724T>A (n.25-1724T>A) c.321T>A (p.Thr107=) | |
1 | g.8957186T>C | CA415858701 | CA6 | c.309T>C (p.Thr103=) c.129T>C (p.Thr43=) n.99-1724T>C c.213T>C (p.Thr71=) c.25-1724T>C (n.25-1724T>C) c.321T>C (p.Thr107=) | gnomAD v4 |
1 | g.8957186T>G | CA415858702 | CA6 | c.309T>G (p.Thr103=) c.129T>G (p.Thr43=) n.99-1724T>G c.213T>G (p.Thr71=) c.25-1724T>G (n.25-1724T>G) c.321T>G (p.Thr107=) | |
1 | g.8957187G>A | CA338184725 | CA6 | c.310G>A (p.Val104Ile) c.130G>A (p.Val44Ile) n.99-1723G>A c.214G>A (p.Val72Ile) c.25-1723G>A (n.25-1723G>A) c.322G>A (p.Val108Ile) | |
1 | g.8957187G>C | CA338184726 | CA6 | c.310G>C (p.Val104Leu) c.130G>C (p.Val44Leu) n.99-1723G>C c.214G>C (p.Val72Leu) c.25-1723G>C (n.25-1723G>C) c.322G>C (p.Val108Leu) | |
1 | g.8957187G>T | CA338184724 | CA6 | c.310G>T (p.Val104Leu) c.130G>T (p.Val44Leu) n.99-1723G>T c.214G>T (p.Val72Leu) c.25-1723G>T (n.25-1723G>T) c.322G>T (p.Val108Leu) | |
1 | g.8957188T>A | CA338184727 | CA6 | c.311T>A (p.Val104Glu) c.131T>A (p.Val44Glu) n.99-1722T>A c.215T>A (p.Val72Glu) c.25-1722T>A (n.25-1722T>A) c.323T>A (p.Val108Glu) | |
1 | g.8957188T>C | CA338184729 | CA6 | c.311T>C (p.Val104Ala) c.131T>C (p.Val44Ala) n.99-1722T>C c.215T>C (p.Val72Ala) c.25-1722T>C (n.25-1722T>C) c.323T>C (p.Val108Ala) | |
1 | g.8957188T>G | CA338184728 | CA6 | c.311T>G (p.Val104Gly) c.131T>G (p.Val44Gly) n.99-1722T>G c.215T>G (p.Val72Gly) c.25-1722T>G (n.25-1722T>G) c.323T>G (p.Val108Gly) | |
1 | g.8957189A>C | CA415858715 | CA6 | c.312A>C (p.Val104=) c.132A>C (p.Val44=) n.99-1721A>C c.216A>C (p.Val72=) c.25-1721A>C (n.25-1721A>C) c.324A>C (p.Val108=) | |
1 | g.8957189A>G | CA415858716 | CA6 | c.312A>G (p.Val104=) c.132A>G (p.Val44=) n.99-1721A>G c.216A>G (p.Val72=) c.25-1721A>G (n.25-1721A>G) c.324A>G (p.Val108=) | gnomAD v4 |
1 | g.8957189A>T | CA415858719 | CA6 | c.312A>T (p.Val104=) c.132A>T (p.Val44=) n.99-1721A>T c.216A>T (p.Val72=) c.25-1721A>T (n.25-1721A>T) c.324A>T (p.Val108=) | |
1 | g.8957190T>A | CA338184730 | CA6 | c.313T>A (p.Tyr105Asn) c.133T>A (p.Tyr45Asn) n.99-1720T>A c.217T>A (p.Tyr73Asn) c.25-1720T>A (n.25-1720T>A) c.325T>A (p.Tyr109Asn) | |
1 | g.8957190T>C | CA338184732 | CA6 | c.313T>C (p.Tyr105His) c.133T>C (p.Tyr45His) n.99-1720T>C c.217T>C (p.Tyr73His) c.25-1720T>C (n.25-1720T>C) c.325T>C (p.Tyr109His) | dbSNP |
1 | g.8957190T>G | CA338184731 | CA6 | c.313T>G (p.Tyr105Asp) c.133T>G (p.Tyr45Asp) n.99-1720T>G c.217T>G (p.Tyr73Asp) c.25-1720T>G (n.25-1720T>G) c.325T>G (p.Tyr109Asp) | |
1 | g.8957190T= | CA1152580750 | CA6 | c.313T= (p.Tyr105=) c.133T= (p.Tyr45=) n.99-1720T= c.217T= (p.Tyr73=) c.25-1720T= (n.25-1720T=) c.325T= (p.Tyr109=) | |
1 | g.8957191A>C | CA338184733 | CA6 | c.314A>C (p.Tyr105Ser) c.134A>C (p.Tyr45Ser) n.99-1719A>C c.218A>C (p.Tyr73Ser) c.25-1719A>C (n.25-1719A>C) c.326A>C (p.Tyr109Ser) | |
1 | g.8957191A>G | CA338184735 | CA6 | c.314A>G (p.Tyr105Cys) c.134A>G (p.Tyr45Cys) n.99-1719A>G c.218A>G (p.Tyr73Cys) c.25-1719A>G (n.25-1719A>G) c.326A>G (p.Tyr109Cys) | |
1 | g.8957191A>T | CA338184734 | CA6 | c.314A>T (p.Tyr105Phe) c.134A>T (p.Tyr45Phe) n.99-1719A>T c.218A>T (p.Tyr73Phe) c.25-1719A>T (n.25-1719A>T) c.326A>T (p.Tyr109Phe) | |
1 | g.8957192C>A | CA338184736 | CA6 | c.315C>A (p.Tyr105Ter) c.135C>A (p.Tyr45Ter) n.99-1718C>A c.219C>A (p.Tyr73Ter) c.25-1718C>A (n.25-1718C>A) c.327C>A (p.Tyr109Ter) | |
1 | g.8957192C= | CA1152580755 | CA6 | c.315C= (p.Tyr105=) c.135C= (p.Tyr45=) n.99-1718C= c.219C= (p.Tyr73=) c.25-1718C= (n.25-1718C=) c.327C= (p.Tyr109=) | |
1 | g.8957192C>G | CA338184737 | CA6 | c.315C>G (p.Tyr105Ter) c.135C>G (p.Tyr45Ter) n.99-1718C>G c.219C>G (p.Tyr73Ter) c.25-1718C>G (n.25-1718C>G) c.327C>G (p.Tyr109Ter) | |
1 | g.8957192C>T | CA415858735 | CA6 | c.315C>T (p.Tyr105=) c.135C>T (p.Tyr45=) n.99-1718C>T c.219C>T (p.Tyr73=) c.25-1718C>T (n.25-1718C>T) c.327C>T (p.Tyr109=) | dbSNP gnomAD v4 |
1 | g.8957193A>C | CA338184738 | CA6 | c.316A>C (p.Ile106Leu) c.136A>C (p.Ile46Leu) n.99-1717A>C c.220A>C (p.Ile74Leu) c.25-1717A>C (n.25-1717A>C) c.328A>C (p.Ile110Leu) | |
1 | g.8957193A>G | CA338184740 | CA6 | c.316A>G (p.Ile106Val) c.136A>G (p.Ile46Val) n.99-1717A>G c.220A>G (p.Ile74Val) c.25-1717A>G (n.25-1717A>G) c.328A>G (p.Ile110Val) | |
1 | g.8957193A>T | CA338184739 | CA6 | c.316A>T (p.Ile106Leu) c.136A>T (p.Ile46Leu) n.99-1717A>T c.220A>T (p.Ile74Leu) c.25-1717A>T (n.25-1717A>T) c.328A>T (p.Ile110Leu) | |
1 | g.8957194T>A | CA338184741 | CA6 | c.317T>A (p.Ile106Lys) c.137T>A (p.Ile46Lys) n.99-1716T>A c.221T>A (p.Ile74Lys) c.25-1716T>A (n.25-1716T>A) c.329T>A (p.Ile110Lys) | |
1 | g.8957194T>C | CA338184742 | CA6 | c.317T>C (p.Ile106Thr) c.137T>C (p.Ile46Thr) n.99-1716T>C c.221T>C (p.Ile74Thr) c.25-1716T>C (n.25-1716T>C) c.329T>C (p.Ile110Thr) | |
1 | g.8957194T>G | CA338184743 | CA6 | c.317T>G (p.Ile106Arg) c.137T>G (p.Ile46Arg) n.99-1716T>G c.221T>G (p.Ile74Arg) c.25-1716T>G (n.25-1716T>G) c.329T>G (p.Ile110Arg) | gnomAD v4 |
1 | g.8957194T= | CA1152580760 | CA6 | c.317T= (p.Ile106=) c.137T= (p.Ile46=) n.99-1716T= c.221T= (p.Ile74=) c.25-1716T= (n.25-1716T=) c.329T= (p.Ile110=) | |
1 | g.8957195A= | CA1152580763 | CA6 | c.318A= (p.Ile106=) c.138A= (p.Ile46=) n.99-1715A= c.222A= (p.Ile74=) c.25-1715A= (n.25-1715A=) c.330A= (p.Ile110=) | |
1 | g.8957195A>C | CA415858748 | CA6 | c.318A>C (p.Ile106=) c.138A>C (p.Ile46=) n.99-1715A>C c.222A>C (p.Ile74=) c.25-1715A>C (n.25-1715A>C) c.330A>C (p.Ile110=) | |
1 | g.8957195A>G | CA338184744 | CA6 | c.318A>G (p.Ile106Met) c.138A>G (p.Ile46Met) n.99-1715A>G c.222A>G (p.Ile74Met) c.25-1715A>G (n.25-1715A>G) c.330A>G (p.Ile110Met) | gnomAD v4 |
1 | g.8957195A>T | CA415858752 | CA6 | c.318A>T (p.Ile106=) c.138A>T (p.Ile46=) n.99-1715A>T c.222A>T (p.Ile74=) c.25-1715A>T (n.25-1715A>T) c.330A>T (p.Ile110=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8957195dup | CA572962 | CA6 | c.318dup (p.Ala107SerfsTer19) c.138dup (p.Ala47SerfsTer19) n.99-1715dup c.222dup (p.Ala75SerfsTer19) c.25-1715dup (n.25-1715dup) c.330dup (p.Ala111SerfsTer19) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8957196G>A | CA17706792 | CA6 | c.319G>A (p.Ala107Thr) c.139G>A (p.Ala47Thr) n.99-1714G>A c.223G>A (p.Ala75Thr) c.25-1714G>A (n.25-1714G>A) c.331G>A (p.Ala111Thr) | dbSNP |
1 | g.8957196G>C | CA338184746 | CA6 | c.319G>C (p.Ala107Pro) c.139G>C (p.Ala47Pro) n.99-1714G>C c.223G>C (p.Ala75Pro) c.25-1714G>C (n.25-1714G>C) c.331G>C (p.Ala111Pro) | |
1 | g.8957196G= | CA1140690138 | CA6 | c.319G= (p.Ala107=) c.139G= (p.Ala47=) n.99-1714G= c.223G= (p.Ala75=) c.25-1714G= (n.25-1714G=) c.331G= (p.Ala111=) | |
1 | g.8957196G>T | CA338184745 | CA6 | c.319G>T (p.Ala107Ser) c.139G>T (p.Ala47Ser) n.99-1714G>T c.223G>T (p.Ala75Ser) c.25-1714G>T (n.25-1714G>T) c.331G>T (p.Ala111Ser) | |
1 | g.8957197C>A | CA338184747 | CA6 | c.320C>A (p.Ala107Asp) c.140C>A (p.Ala47Asp) n.99-1713C>A c.224C>A (p.Ala75Asp) c.25-1713C>A (n.25-1713C>A) c.332C>A (p.Ala111Asp) | |
1 | g.8957197C>G | CA338184748 | CA6 | c.320C>G (p.Ala107Gly) c.140C>G (p.Ala47Gly) n.99-1713C>G c.224C>G (p.Ala75Gly) c.25-1713C>G (n.25-1713C>G) c.332C>G (p.Ala111Gly) | |
1 | g.8957197C>T | CA338184749 | CA6 | c.320C>T (p.Ala107Val) c.140C>T (p.Ala47Val) n.99-1713C>T c.224C>T (p.Ala75Val) c.25-1713C>T (n.25-1713C>T) c.332C>T (p.Ala111Val) | |
1 | g.8957198C>A | CA415858765 | CA6 | c.321C>A (p.Ala107=) c.141C>A (p.Ala47=) n.99-1712C>A c.225C>A (p.Ala75=) c.25-1712C>A (n.25-1712C>A) c.333C>A (p.Ala111=) | |
1 | g.8957198C>G | CA415858767 | CA6 | c.321C>G (p.Ala107=) c.141C>G (p.Ala47=) n.99-1712C>G c.225C>G (p.Ala75=) c.25-1712C>G (n.25-1712C>G) c.333C>G (p.Ala111=) | |
1 | g.8957198C>T | CA415858769 | CA6 | c.321C>T (p.Ala107=) c.141C>T (p.Ala47=) n.99-1712C>T c.225C>T (p.Ala75=) c.25-1712C>T (n.25-1712C>T) c.333C>T (p.Ala111=) | |
1 | g.8957199C>A | CA338184750 | CA6 | c.322C>A (p.Gln108Lys) c.142C>A (p.Gln48Lys) n.99-1711C>A c.226C>A (p.Gln76Lys) c.25-1711C>A (n.25-1711C>A) c.334C>A (p.Gln112Lys) | gnomAD v4 |
1 | g.8957199C= | CA1145407338 | CA6 | c.322C= (p.Gln108=) c.142C= (p.Gln48=) n.99-1711C= c.226C= (p.Gln76=) c.25-1711C= (n.25-1711C=) c.334C= (p.Gln112=) | |
1 | g.8957199C>G | CA338184751 | CA6 | c.322C>G (p.Gln108Glu) c.142C>G (p.Gln48Glu) n.99-1711C>G c.226C>G (p.Gln76Glu) c.25-1711C>G (n.25-1711C>G) c.334C>G (p.Gln112Glu) | |
1 | g.8957199C>T | CA17706793 | CA6 | c.322C>T (p.Gln108Ter) c.142C>T (p.Gln48Ter) n.99-1711C>T c.226C>T (p.Gln76Ter) c.25-1711C>T (n.25-1711C>T) c.334C>T (p.Gln112Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8957200A>C | CA338184752 | CA6 | c.323A>C (p.Gln108Pro) c.143A>C (p.Gln48Pro) n.99-1710A>C c.227A>C (p.Gln76Pro) c.25-1710A>C (n.25-1710A>C) c.335A>C (p.Gln112Pro) | |
1 | g.8957200A>G | CA338184754 | CA6 | c.323A>G (p.Gln108Arg) c.143A>G (p.Gln48Arg) n.99-1710A>G c.227A>G (p.Gln76Arg) c.25-1710A>G (n.25-1710A>G) c.335A>G (p.Gln112Arg) | gnomAD v4 |
1 | g.8957200A>T | CA338184753 | CA6 | c.323A>T (p.Gln108Leu) c.143A>T (p.Gln48Leu) n.99-1710A>T c.227A>T (p.Gln76Leu) c.25-1710A>T (n.25-1710A>T) c.335A>T (p.Gln112Leu) | |
1 | g.8957201G>A | CA415858782 | CA6 | c.324G>A (p.Gln108=) c.144G>A (p.Gln48=) n.99-1709G>A c.228G>A (p.Gln76=) c.25-1709G>A (n.25-1709G>A) c.336G>A (p.Gln112=) | |
1 | g.8957201G>C | CA338184755 | CA6 | c.324G>C (p.Gln108His) c.144G>C (p.Gln48His) n.99-1709G>C c.228G>C (p.Gln76His) c.25-1709G>C (n.25-1709G>C) c.336G>C (p.Gln112His) | |
1 | g.8957201G>T | CA338184756 | CA6 | c.324G>T (p.Gln108His) c.144G>T (p.Gln48His) n.99-1709G>T c.228G>T (p.Gln76His) c.25-1709G>T (n.25-1709G>T) c.336G>T (p.Gln112His) | |
1 | g.8957202C>A | CA338184757 | CA6 | c.325C>A (p.Gln109Lys) c.145C>A (p.Gln49Lys) n.99-1708C>A c.229C>A (p.Gln77Lys) c.25-1708C>A (n.25-1708C>A) c.337C>A (p.Gln113Lys) | |
1 | g.8957202C>G | CA338184758 | CA6 | c.325C>G (p.Gln109Glu) c.145C>G (p.Gln49Glu) n.99-1708C>G c.229C>G (p.Gln77Glu) c.25-1708C>G (n.25-1708C>G) c.337C>G (p.Gln113Glu) | |
1 | g.8957202C>T | CA338184759 | CA6 | c.325C>T (p.Gln109Ter) c.145C>T (p.Gln49Ter) n.99-1708C>T c.229C>T (p.Gln77Ter) c.25-1708C>T (n.25-1708C>T) c.337C>T (p.Gln113Ter) | |
1 | g.8957203A>C | CA338184760 | CA6 | c.326A>C (p.Gln109Pro) c.146A>C (p.Gln49Pro) n.99-1707A>C c.230A>C (p.Gln77Pro) c.25-1707A>C (n.25-1707A>C) c.338A>C (p.Gln113Pro) | |
1 | g.8957203A>G | CA338184761 | CA6 | c.326A>G (p.Gln109Arg) c.146A>G (p.Gln49Arg) n.99-1707A>G c.230A>G (p.Gln77Arg) c.25-1707A>G (n.25-1707A>G) c.338A>G (p.Gln113Arg) | gnomAD v4 |
1 | g.8957203A>T | CA338184762 | CA6 | c.326A>T (p.Gln109Leu) c.146A>T (p.Gln49Leu) n.99-1707A>T c.230A>T (p.Gln77Leu) c.25-1707A>T (n.25-1707A>T) c.338A>T (p.Gln113Leu) | |
1 | g.8957204G>A | CA415858795 | CA6 | c.327G>A (p.Gln109=) c.147G>A (p.Gln49=) n.99-1706G>A c.231G>A (p.Gln77=) c.25-1706G>A (n.25-1706G>A) c.339G>A (p.Gln113=) | |
1 | g.8957204G>C | CA338184763 | CA6 | c.327G>C (p.Gln109His) c.147G>C (p.Gln49His) n.99-1706G>C c.231G>C (p.Gln77His) c.25-1706G>C (n.25-1706G>C) c.339G>C (p.Gln113His) | |
1 | g.8957204G>T | CA338184764 | CA6 | c.327G>T (p.Gln109His) c.147G>T (p.Gln49His) n.99-1706G>T c.231G>T (p.Gln77His) c.25-1706G>T (n.25-1706G>T) c.339G>T (p.Gln113His) | |
1 | g.8957205A= | CA1152580768 | CA6 | c.328A= (p.Met110=) c.148A= (p.Met50=) n.99-1705A= c.232A= (p.Met78=) c.25-1705A= (n.25-1705A=) c.340A= (p.Met114=) | |
1 | g.8957205A>C | CA338184765 | CA6 | c.328A>C (p.Met110Leu) c.148A>C (p.Met50Leu) n.99-1705A>C c.232A>C (p.Met78Leu) c.25-1705A>C (n.25-1705A>C) c.340A>C (p.Met114Leu) | |
1 | g.8957205A>G | CA338184767 | CA6 | c.328A>G (p.Met110Val) c.148A>G (p.Met50Val) n.99-1705A>G c.232A>G (p.Met78Val) c.25-1705A>G (n.25-1705A>G) c.340A>G (p.Met114Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957205A>T | CA338184766 | CA6 | c.328A>T (p.Met110Leu) c.148A>T (p.Met50Leu) n.99-1705A>T c.232A>T (p.Met78Leu) c.25-1705A>T (n.25-1705A>T) c.340A>T (p.Met114Leu) | |
1 | g.8957206T>A | CA572963 | CA6 | c.329T>A (p.Met110Lys) c.149T>A (p.Met50Lys) n.99-1704T>A c.233T>A (p.Met78Lys) c.25-1704T>A (n.25-1704T>A) c.341T>A (p.Met114Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8957206T>C | CA338184768 | CA6 | c.329T>C (p.Met110Thr) c.149T>C (p.Met50Thr) n.99-1704T>C c.233T>C (p.Met78Thr) c.25-1704T>C (n.25-1704T>C) c.341T>C (p.Met114Thr) | |
1 | g.8957206T>G | CA338184769 | CA6 | c.329T>G (p.Met110Arg) c.149T>G (p.Met50Arg) n.99-1704T>G c.233T>G (p.Met78Arg) c.25-1704T>G (n.25-1704T>G) c.341T>G (p.Met114Arg) | |
1 | g.8957206T= | CA1152580771 | CA6 | c.329T= (p.Met110=) c.149T= (p.Met50=) n.99-1704T= c.233T= (p.Met78=) c.25-1704T= (n.25-1704T=) c.341T= (p.Met114=) | |
1 | g.8957207G>A | CA338184770 | CA6 | c.330G>A (p.Met110Ile) c.150G>A (p.Met50Ile) n.99-1703G>A c.234G>A (p.Met78Ile) c.25-1703G>A (n.25-1703G>A) c.342G>A (p.Met114Ile) | gnomAD v4 |
1 | g.8957207G>C | CA338184771 | CA6 | c.330G>C (p.Met110Ile) c.150G>C (p.Met50Ile) n.99-1703G>C c.234G>C (p.Met78Ile) c.25-1703G>C (n.25-1703G>C) c.342G>C (p.Met114Ile) | |
1 | g.8957207G>T | CA338184772 | CA6 | c.330G>T (p.Met110Ile) c.150G>T (p.Met50Ile) n.99-1703G>T c.234G>T (p.Met78Ile) c.25-1703G>T (n.25-1703G>T) c.342G>T (p.Met114Ile) | |
1 | g.8957208C>A | CA338184773 | CA6 | c.331C>A (p.His111Asn) c.151C>A (p.His51Asn) n.99-1702C>A c.235C>A (p.His79Asn) c.25-1702C>A (n.25-1702C>A) c.343C>A (p.His115Asn) | gnomAD v4 |
1 | g.8957208C= | CA1152580772 | CA6 | c.331C= (p.His111=) c.151C= (p.His51=) n.99-1702C= c.235C= (p.His79=) c.25-1702C= (n.25-1702C=) c.343C= (p.His115=) | |
1 | g.8957208C>G | CA338184774 | CA6 | c.331C>G (p.His111Asp) c.151C>G (p.His51Asp) n.99-1702C>G c.235C>G (p.His79Asp) c.25-1702C>G (n.25-1702C>G) c.343C>G (p.His115Asp) | |
1 | g.8957208C>T | CA338184775 | CA6 | c.331C>T (p.His111Tyr) c.151C>T (p.His51Tyr) n.99-1702C>T c.235C>T (p.His79Tyr) c.25-1702C>T (n.25-1702C>T) c.343C>T (p.His115Tyr) | dbSNP |
1 | g.8957209A= | CA1152580775 | CA6 | c.332A= (p.His111=) c.152A= (p.His51=) n.99-1701A= c.236A= (p.His79=) c.25-1701A= (n.25-1701A=) c.344A= (p.His115=) | |
1 | g.8957209A>C | CA338184776 | CA6 | c.332A>C (p.His111Pro) c.152A>C (p.His51Pro) n.99-1701A>C c.236A>C (p.His79Pro) c.25-1701A>C (n.25-1701A>C) c.344A>C (p.His115Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8957209A>G | CA338184777 | CA6 | c.332A>G (p.His111Arg) c.152A>G (p.His51Arg) n.99-1701A>G c.236A>G (p.His79Arg) c.25-1701A>G (n.25-1701A>G) c.344A>G (p.His115Arg) | gnomAD v4 |
1 | g.8957209A>T | CA338184778 | CA6 | c.332A>T (p.His111Leu) c.152A>T (p.His51Leu) n.99-1701A>T c.236A>T (p.His79Leu) c.25-1701A>T (n.25-1701A>T) c.344A>T (p.His115Leu) | |
1 | g.8957210C>A | CA338184779 | CA6 | c.333C>A (p.His111Gln) c.153C>A (p.His51Gln) n.99-1700C>A c.237C>A (p.His79Gln) c.25-1700C>A (n.25-1700C>A) c.345C>A (p.His115Gln) | gnomAD v4 |
1 | g.8957210C>G | CA338184780 | CA6 | c.333C>G (p.His111Gln) c.153C>G (p.His51Gln) n.99-1700C>G c.237C>G (p.His79Gln) c.25-1700C>G (n.25-1700C>G) c.345C>G (p.His115Gln) | |
1 | g.8957210C>T | CA415858828 | CA6 | c.333C>T (p.His111=) c.153C>T (p.His51=) n.99-1700C>T c.237C>T (p.His79=) c.25-1700C>T (n.25-1700C>T) c.345C>T (p.His115=) | gnomAD v4 |
1 | g.8957211T>A | CA338184781 | CA6 | c.334T>A (p.Phe112Ile) c.154T>A (p.Phe52Ile) n.99-1699T>A c.238T>A (p.Phe80Ile) c.25-1699T>A (n.25-1699T>A) c.346T>A (p.Phe116Ile) | |
1 | g.8957211T>C | CA338184782 | CA6 | c.334T>C (p.Phe112Leu) c.154T>C (p.Phe52Leu) n.99-1699T>C c.238T>C (p.Phe80Leu) c.25-1699T>C (n.25-1699T>C) c.346T>C (p.Phe116Leu) | |
1 | g.8957211T>G | CA338184783 | CA6 | c.334T>G (p.Phe112Val) c.154T>G (p.Phe52Val) n.99-1699T>G c.238T>G (p.Phe80Val) c.25-1699T>G (n.25-1699T>G) c.346T>G (p.Phe116Val) | |
1 | g.8957212T>A | CA338184784 | CA6 | c.335T>A (p.Phe112Tyr) c.155T>A (p.Phe52Tyr) n.99-1698T>A c.239T>A (p.Phe80Tyr) c.25-1698T>A (n.25-1698T>A) c.347T>A (p.Phe116Tyr) | |
1 | g.8957212T>C | CA338184785 | CA6 | c.335T>C (p.Phe112Ser) c.155T>C (p.Phe52Ser) n.99-1698T>C c.239T>C (p.Phe80Ser) c.25-1698T>C (n.25-1698T>C) c.347T>C (p.Phe116Ser) | gnomAD v4 |
1 | g.8957212T>G | CA338184786 | CA6 | c.335T>G (p.Phe112Cys) c.155T>G (p.Phe52Cys) n.99-1698T>G c.239T>G (p.Phe80Cys) c.25-1698T>G (n.25-1698T>G) c.347T>G (p.Phe116Cys) | |
1 | g.8957213T>A | CA338184787 | CA6 | c.336T>A (p.Phe112Leu) c.156T>A (p.Phe52Leu) n.99-1697T>A c.240T>A (p.Phe80Leu) c.25-1697T>A (n.25-1697T>A) c.348T>A (p.Phe116Leu) | |
1 | g.8957213T>C | CA415858844 | CA6 | c.336T>C (p.Phe112=) c.156T>C (p.Phe52=) n.99-1697T>C c.240T>C (p.Phe80=) c.25-1697T>C (n.25-1697T>C) c.348T>C (p.Phe116=) | |
1 | g.8957213T>G | CA338184788 | CA6 | c.336T>G (p.Phe112Leu) c.156T>G (p.Phe52Leu) n.99-1697T>G c.240T>G (p.Phe80Leu) c.25-1697T>G (n.25-1697T>G) c.348T>G (p.Phe116Leu) | |
1 | g.8957214C>A | CA338184789 | CA6 | c.337C>A (p.His113Asn) c.157C>A (p.His53Asn) n.99-1696C>A c.241C>A (p.His81Asn) c.25-1696C>A (n.25-1696C>A) c.349C>A (p.His117Asn) | |
1 | g.8957214C= | CA1143387258 | CA6 | c.337C= (p.His113=) c.157C= (p.His53=) n.99-1696C= c.241C= (p.His81=) c.25-1696C= (n.25-1696C=) c.349C= (p.His117=) | |
1 | g.8957214C>G | CA338184790 | CA6 | c.337C>G (p.His113Asp) c.157C>G (p.His53Asp) n.99-1696C>G c.241C>G (p.His81Asp) c.25-1696C>G (n.25-1696C>G) c.349C>G (p.His117Asp) | |
1 | g.8957214C>T | CA572964 | CA6 | c.337C>T (p.His113Tyr) c.157C>T (p.His53Tyr) n.99-1696C>T c.241C>T (p.His81Tyr) c.25-1696C>T (n.25-1696C>T) c.349C>T (p.His117Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957215A>C | CA338184792 | CA6 | c.338A>C (p.His113Pro) c.158A>C (p.His53Pro) n.99-1695A>C c.242A>C (p.His81Pro) c.25-1695A>C (n.25-1695A>C) c.350A>C (p.His117Pro) | |
1 | g.8957215A>G | CA338184793 | CA6 | c.338A>G (p.His113Arg) c.158A>G (p.His53Arg) n.99-1695A>G c.242A>G (p.His81Arg) c.25-1695A>G (n.25-1695A>G) c.350A>G (p.His117Arg) | |
1 | g.8957215A>T | CA338184791 | CA6 | c.338A>T (p.His113Leu) c.158A>T (p.His53Leu) n.99-1695A>T c.242A>T (p.His81Leu) c.25-1695A>T (n.25-1695A>T) c.350A>T (p.His117Leu) | |
1 | g.8957216C>A | CA338184795 | CA6 | c.339C>A (p.His113Gln) c.159C>A (p.His53Gln) n.99-1694C>A c.243C>A (p.His81Gln) c.25-1694C>A (n.25-1694C>A) c.351C>A (p.His117Gln) | COSMIC |
1 | g.8957216C>G | CA338184794 | CA6 | c.339C>G (p.His113Gln) c.159C>G (p.His53Gln) n.99-1694C>G c.243C>G (p.His81Gln) c.25-1694C>G (n.25-1694C>G) c.351C>G (p.His117Gln) | |
1 | g.8957216C>T | CA415858860 | CA6 | c.339C>T (p.His113=) c.159C>T (p.His53=) n.99-1694C>T c.243C>T (p.His81=) c.25-1694C>T (n.25-1694C>T) c.351C>T (p.His117=) | gnomAD v4 |
1 | g.8957217T>A | CA338184796 | CA6 | c.340T>A (p.Trp114Arg) c.160T>A (p.Trp54Arg) n.99-1693T>A c.244T>A (p.Trp82Arg) c.25-1693T>A (n.25-1693T>A) c.352T>A (p.Trp118Arg) | |
1 | g.8957217T>C | CA338184797 | CA6 | c.340T>C (p.Trp114Arg) c.160T>C (p.Trp54Arg) n.99-1693T>C c.244T>C (p.Trp82Arg) c.25-1693T>C (n.25-1693T>C) c.352T>C (p.Trp118Arg) | dbSNP gnomAD v4 |
1 | g.8957217T>G | CA338184798 | CA6 | c.340T>G (p.Trp114Gly) c.160T>G (p.Trp54Gly) n.99-1693T>G c.244T>G (p.Trp82Gly) c.25-1693T>G (n.25-1693T>G) c.352T>G (p.Trp118Gly) | |
1 | g.8957217T= | CA1152580779 | CA6 | c.340T= (p.Trp114=) c.160T= (p.Trp54=) n.99-1693T= c.244T= (p.Trp82=) c.25-1693T= (n.25-1693T=) c.352T= (p.Trp118=) | |
1 | g.8957218G>A | CA338184799 | CA6 | c.341G>A (p.Trp114Ter) c.161G>A (p.Trp54Ter) n.99-1692G>A c.245G>A (p.Trp82Ter) c.25-1692G>A (n.25-1692G>A) c.353G>A (p.Trp118Ter) | |
1 | g.8957218G>C | CA338184800 | CA6 | c.341G>C (p.Trp114Ser) c.161G>C (p.Trp54Ser) n.99-1692G>C c.245G>C (p.Trp82Ser) c.25-1692G>C (n.25-1692G>C) c.353G>C (p.Trp118Ser) | |
1 | g.8957218G>T | CA338184801 | CA6 | c.341G>T (p.Trp114Leu) c.161G>T (p.Trp54Leu) n.99-1692G>T c.245G>T (p.Trp82Leu) c.25-1692G>T (n.25-1692G>T) c.353G>T (p.Trp118Leu) | |
1 | g.8957219G>A | CA338184802 | CA6 | c.342G>A (p.Trp114Ter) c.162G>A (p.Trp54Ter) n.99-1691G>A c.246G>A (p.Trp82Ter) c.25-1691G>A (n.25-1691G>A) c.354G>A (p.Trp118Ter) | |
1 | g.8957219G>C | CA338184803 | CA6 | c.342G>C (p.Trp114Cys) c.162G>C (p.Trp54Cys) n.99-1691G>C c.246G>C (p.Trp82Cys) c.25-1691G>C (n.25-1691G>C) c.354G>C (p.Trp118Cys) | |
1 | g.8957219G= | CA1152580782 | CA6 | c.342G= (p.Trp114=) c.162G= (p.Trp54=) n.99-1691G= c.246G= (p.Trp82=) c.25-1691G= (n.25-1691G=) c.354G= (p.Trp118=) | |
1 | g.8957219G>T | CA338184804 | CA6 | c.342G>T (p.Trp114Cys) c.162G>T (p.Trp54Cys) n.99-1691G>T c.246G>T (p.Trp82Cys) c.25-1691G>T (n.25-1691G>T) c.354G>T (p.Trp118Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8957220G>A | CA338184805 | CA6 | c.343G>A (p.Gly115Arg) c.163G>A (p.Gly55Arg) n.99-1690G>A c.247G>A (p.Gly83Arg) c.25-1690G>A (n.25-1690G>A) c.355G>A (p.Gly119Arg) | |
1 | g.8957220G>C | CA338184806 | CA6 | c.343G>C (p.Gly115Arg) c.163G>C (p.Gly55Arg) n.99-1690G>C c.247G>C (p.Gly83Arg) c.25-1690G>C (n.25-1690G>C) c.355G>C (p.Gly119Arg) | |
1 | g.8957220G>T | CA338184807 | CA6 | c.343G>T (p.Gly115Ter) c.163G>T (p.Gly55Ter) n.99-1690G>T c.247G>T (p.Gly83Ter) c.25-1690G>T (n.25-1690G>T) c.355G>T (p.Gly119Ter) | |
1 | g.8957221G>A | CA338184808 | CA6 | c.344G>A (p.Gly115Glu) c.164G>A (p.Gly55Glu) n.99-1689G>A c.248G>A (p.Gly83Glu) c.25-1689G>A (n.25-1689G>A) c.356G>A (p.Gly119Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957221G>C | CA338184810 | CA6 | c.344G>C (p.Gly115Ala) c.164G>C (p.Gly55Ala) n.99-1689G>C c.248G>C (p.Gly83Ala) c.25-1689G>C (n.25-1689G>C) c.356G>C (p.Gly119Ala) | |
1 | g.8957221G= | CA1152580785 | CA6 | c.344G= (p.Gly115=) c.164G= (p.Gly55=) n.99-1689G= c.248G= (p.Gly83=) c.25-1689G= (n.25-1689G=) c.356G= (p.Gly119=) | |
1 | g.8957221G>T | CA338184809 | CA6 | c.344G>T (p.Gly115Val) c.164G>T (p.Gly55Val) n.99-1689G>T c.248G>T (p.Gly83Val) c.25-1689G>T (n.25-1689G>T) c.356G>T (p.Gly119Val) | |
1 | g.8957222del | CA2643090651 | CA6 | c.345del (p.Gly116ValfsTer19) c.165del (p.Gly56ValfsTer19) n.99-1688del c.249del (p.Gly84ValfsTer19) c.25-1688del (n.25-1688del) c.357del (p.Gly120ValfsTer19) | gnomAD v4 |
1 | g.8957222A>C | CA415858883 | CA6 | c.345A>C (p.Gly115=) c.165A>C (p.Gly55=) n.99-1688A>C c.249A>C (p.Gly83=) c.25-1688A>C (n.25-1688A>C) c.357A>C (p.Gly119=) | |
1 | g.8957222A>G | CA415858882 | CA6 | c.345A>G (p.Gly115=) c.165A>G (p.Gly55=) n.99-1688A>G c.249A>G (p.Gly83=) c.25-1688A>G (n.25-1688A>G) c.357A>G (p.Gly119=) | |
1 | g.8957222A>T | CA415858881 | CA6 | c.345A>T (p.Gly115=) c.165A>T (p.Gly55=) n.99-1688A>T c.249A>T (p.Gly83=) c.25-1688A>T (n.25-1688A>T) c.357A>T (p.Gly119=) | |
1 | g.8957222_8957223delinsAG | CA1152580789 | CA6 | c.345_346delinsAG (p.Gly115=) c.165_166delinsAG (p.Gly55=) n.99-1688_99-1687delinsAG c.249_250delinsAG (p.Gly83=) c.25-1688_25-1687delinsAG (n.25-1688_25-1687delinsAG) c.357_358delinsAG (p.Gly119=) | |
1 | g.8957223G>A | CA338184811 | CA6 | c.346G>A (p.Gly116Ser) c.166G>A (p.Gly56Ser) n.99-1687G>A c.250G>A (p.Gly84Ser) c.25-1687G>A (n.25-1687G>A) c.358G>A (p.Gly120Ser) | gnomAD v4 |
1 | g.8957223G>C | CA338184812 | CA6 | c.346G>C (p.Gly116Arg) c.166G>C (p.Gly56Arg) n.99-1687G>C c.250G>C (p.Gly84Arg) c.25-1687G>C (n.25-1687G>C) c.358G>C (p.Gly120Arg) | |
1 | g.8957223G>T | CA338184813 | CA6 | c.346G>T (p.Gly116Cys) c.166G>T (p.Gly56Cys) n.99-1687G>T c.250G>T (p.Gly84Cys) c.25-1687G>T (n.25-1687G>T) c.358G>T (p.Gly120Cys) | |
1 | g.8957224del | CA572965 | CA6 | c.347del (p.Gly116ValfsTer19) c.167del (p.Gly56ValfsTer19) n.99-1686del c.251del (p.Gly84ValfsTer19) c.25-1686del (n.25-1686del) c.359del (p.Gly120ValfsTer19) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957224G>A | CA338184814 | CA6 | c.347G>A (p.Gly116Asp) c.167G>A (p.Gly56Asp) n.99-1686G>A c.251G>A (p.Gly84Asp) c.25-1686G>A (n.25-1686G>A) c.359G>A (p.Gly120Asp) | |
1 | g.8957224G>C | CA338184815 | CA6 | c.347G>C (p.Gly116Ala) c.167G>C (p.Gly56Ala) n.99-1686G>C c.251G>C (p.Gly84Ala) c.25-1686G>C (n.25-1686G>C) c.359G>C (p.Gly120Ala) | |
1 | g.8957224G= | CA1152580793 | CA6 | c.347G= (p.Gly116=) c.167G= (p.Gly56=) n.99-1686G= c.251G= (p.Gly84=) c.25-1686G= (n.25-1686G=) c.359G= (p.Gly120=) | |
1 | g.8957224G>T | CA17706836 | CA6 | c.347G>T (p.Gly116Val) c.167G>T (p.Gly56Val) n.99-1686G>T c.251G>T (p.Gly84Val) c.25-1686G>T (n.25-1686G>T) c.359G>T (p.Gly120Val) | dbSNP |
1 | g.8957225T>A | CA415858884 | CA6 | c.348T>A (p.Gly116=) c.168T>A (p.Gly56=) n.99-1685T>A c.252T>A (p.Gly84=) c.25-1685T>A (n.25-1685T>A) c.360T>A (p.Gly120=) | |
1 | g.8957225T>C | CA415858885 | CA6 | c.348T>C (p.Gly116=) c.168T>C (p.Gly56=) n.99-1685T>C c.252T>C (p.Gly84=) c.25-1685T>C (n.25-1685T>C) c.360T>C (p.Gly120=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8957225T>G | CA415858886 | CA6 | c.348T>G (p.Gly116=) c.168T>G (p.Gly56=) n.99-1685T>G c.252T>G (p.Gly84=) c.25-1685T>G (n.25-1685T>G) c.360T>G (p.Gly120=) | |
1 | g.8957225T= | CA1152580796 | CA6 | c.348T= (p.Gly116=) c.168T= (p.Gly56=) n.99-1685T= c.252T= (p.Gly84=) c.25-1685T= (n.25-1685T=) c.360T= (p.Gly120=) | |
1 | g.8957226G>A | CA17706838 | CA6 | c.349G>A (p.Ala117Thr) c.169G>A (p.Ala57Thr) n.99-1684G>A c.253G>A (p.Ala85Thr) c.25-1684G>A (n.25-1684G>A) c.361G>A (p.Ala121Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8957226G>C | CA338184816 | CA6 | c.349G>C (p.Ala117Pro) c.169G>C (p.Ala57Pro) n.99-1684G>C c.253G>C (p.Ala85Pro) c.25-1684G>C (n.25-1684G>C) c.361G>C (p.Ala121Pro) | |
1 | g.8957226G= | CA1152580800 | CA6 | c.349G= (p.Ala117=) c.169G= (p.Ala57=) n.99-1684G= c.253G= (p.Ala85=) c.25-1684G= (n.25-1684G=) c.361G= (p.Ala121=) | |
1 | g.8957226G>T | CA338184817 | CA6 | c.349G>T (p.Ala117Ser) c.169G>T (p.Ala57Ser) n.99-1684G>T c.253G>T (p.Ala85Ser) c.25-1684G>T (n.25-1684G>T) c.361G>T (p.Ala121Ser) | |
1 | g.8957227C>A | CA338184818 | CA6 | c.350C>A (p.Ala117Glu) c.170C>A (p.Ala57Glu) n.99-1683C>A c.254C>A (p.Ala85Glu) c.25-1683C>A (n.25-1683C>A) c.362C>A (p.Ala121Glu) | |
1 | g.8957227C= | CA1152580802 | CA6 | c.350C= (p.Ala117=) c.170C= (p.Ala57=) n.99-1683C= c.254C= (p.Ala85=) c.25-1683C= (n.25-1683C=) c.362C= (p.Ala121=) | |
1 | g.8957227C>G | CA338184819 | CA6 | c.350C>G (p.Ala117Gly) c.170C>G (p.Ala57Gly) n.99-1683C>G c.254C>G (p.Ala85Gly) c.25-1683C>G (n.25-1683C>G) c.362C>G (p.Ala121Gly) | |
1 | g.8957227C>T | CA572966 | CA6 | c.350C>T (p.Ala117Val) c.170C>T (p.Ala57Val) n.99-1683C>T c.254C>T (p.Ala85Val) c.25-1683C>T (n.25-1683C>T) c.362C>T (p.Ala121Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8957228G>A | CA572967 | CA6 | c.351G>A (p.Ala117=) c.171G>A (p.Ala57=) n.99-1682G>A c.255G>A (p.Ala85=) c.25-1682G>A (n.25-1682G>A) c.363G>A (p.Ala121=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957228G>C | CA415858889 | CA6 | c.351G>C (p.Ala117=) c.171G>C (p.Ala57=) n.99-1682G>C c.255G>C (p.Ala85=) c.25-1682G>C (n.25-1682G>C) c.363G>C (p.Ala121=) | |
1 | g.8957228G= | CA1143511114 | CA6 | c.351G= (p.Ala117=) c.171G= (p.Ala57=) n.99-1682G= c.255G= (p.Ala85=) c.25-1682G= (n.25-1682G=) c.363G= (p.Ala121=) | |
1 | g.8957228G>T | CA415858888 | CA6 | c.351G>T (p.Ala117=) c.171G>T (p.Ala57=) n.99-1682G>T c.255G>T (p.Ala85=) c.25-1682G>T (n.25-1682G>T) c.363G>T (p.Ala121=) | |
1 | g.8957229T>A | CA338184820 | CA6 | c.352T>A (p.Ser118Thr) c.172T>A (p.Ser58Thr) n.99-1681T>A c.256T>A (p.Ser86Thr) c.25-1681T>A (n.25-1681T>A) c.364T>A (p.Ser122Thr) | gnomAD v4 |
1 | g.8957229T>C | CA338184821 | CA6 | c.352T>C (p.Ser118Pro) c.172T>C (p.Ser58Pro) n.99-1681T>C c.256T>C (p.Ser86Pro) c.25-1681T>C (n.25-1681T>C) c.364T>C (p.Ser122Pro) | |
1 | g.8957229T>G | CA338184822 | CA6 | c.352T>G (p.Ser118Ala) c.172T>G (p.Ser58Ala) n.99-1681T>G c.256T>G (p.Ser86Ala) c.25-1681T>G (n.25-1681T>G) c.364T>G (p.Ser122Ala) | |
1 | g.8957230C>A | CA338184823 | CA6 | c.353C>A (p.Ser118Tyr) c.173C>A (p.Ser58Tyr) n.99-1680C>A c.257C>A (p.Ser86Tyr) c.25-1680C>A (n.25-1680C>A) c.365C>A (p.Ser122Tyr) | |
1 | g.8957230C>G | CA338184824 | CA6 | c.353C>G (p.Ser118Cys) c.173C>G (p.Ser58Cys) n.99-1680C>G c.257C>G (p.Ser86Cys) c.25-1680C>G (n.25-1680C>G) c.365C>G (p.Ser122Cys) | |
1 | g.8957230C>T | CA338184825 | CA6 | c.353C>T (p.Ser118Phe) c.173C>T (p.Ser58Phe) n.99-1680C>T c.257C>T (p.Ser86Phe) c.25-1680C>T (n.25-1680C>T) c.365C>T (p.Ser122Phe) | gnomAD v4 |
1 | g.8957231C>A | CA415858890 | CA6 | c.354C>A (p.Ser118=) c.174C>A (p.Ser58=) n.99-1679C>A c.258C>A (p.Ser86=) c.25-1679C>A (n.25-1679C>A) c.366C>A (p.Ser122=) | |
1 | g.8957231C>G | CA415858891 | CA6 | c.354C>G (p.Ser118=) c.174C>G (p.Ser58=) n.99-1679C>G c.258C>G (p.Ser86=) c.25-1679C>G (n.25-1679C>G) c.366C>G (p.Ser122=) | |
1 | g.8957231C>T | CA415858892 | CA6 | c.354C>T (p.Ser118=) c.174C>T (p.Ser58=) n.99-1679C>T c.258C>T (p.Ser86=) c.25-1679C>T (n.25-1679C>T) c.366C>T (p.Ser122=) | gnomAD v4 |
1 | g.8957234_8957248dup | CA2643090652 | CA6 | c.357_371dup (p.Ser124_Glu125insGluIleSerGlySer) c.177_191dup (p.Ser64_Glu65insGluIleSerGlySer) n.99-1676_99-1662dup c.261_275dup (p.Ser92_Glu93insGluIleSerGlySer) c.25-1676_25-1662dup (n.25-1676_25-1662dup) c.369_383dup (p.Ser128_Glu129insGluIleSerGlySer) | gnomAD v4 |
1 | g.8957232T>A | CA338184826 | CA6 | c.355T>A (p.Ser119Thr) c.175T>A (p.Ser59Thr) n.99-1678T>A c.259T>A (p.Ser87Thr) c.25-1678T>A (n.25-1678T>A) c.367T>A (p.Ser123Thr) | |
1 | g.8957232T>C | CA338184828 | CA6 | c.355T>C (p.Ser119Pro) c.175T>C (p.Ser59Pro) n.99-1678T>C c.259T>C (p.Ser87Pro) c.25-1678T>C (n.25-1678T>C) c.367T>C (p.Ser123Pro) | |
1 | g.8957232T>G | CA338184827 | CA6 | c.355T>G (p.Ser119Ala) c.175T>G (p.Ser59Ala) n.99-1678T>G c.259T>G (p.Ser87Ala) c.25-1678T>G (n.25-1678T>G) c.367T>G (p.Ser123Ala) | |
1 | g.8957233C>A | CA338184829 | CA6 | c.356C>A (p.Ser119Ter) c.176C>A (p.Ser59Ter) n.99-1677C>A c.260C>A (p.Ser87Ter) c.25-1677C>A (n.25-1677C>A) c.368C>A (p.Ser123Ter) | gnomAD v4 |
1 | g.8957233C= | CA1148464465 | CA6 | c.356C= (p.Ser119=) c.176C= (p.Ser59=) n.99-1677C= c.260C= (p.Ser87=) c.25-1677C= (n.25-1677C=) c.368C= (p.Ser123=) | |
1 | g.8957233C>G | CA338184830 | CA6 | c.356C>G (p.Ser119Trp) c.176C>G (p.Ser59Trp) n.99-1677C>G c.260C>G (p.Ser87Trp) c.25-1677C>G (n.25-1677C>G) c.368C>G (p.Ser123Trp) | |
1 | g.8957233C>T | CA572968 | CA6 | c.356C>T (p.Ser119Leu) c.176C>T (p.Ser59Leu) n.99-1677C>T c.260C>T (p.Ser87Leu) c.25-1677C>T (n.25-1677C>T) c.368C>T (p.Ser123Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957234G>A | CA17706870 | CA6 | c.357G>A (p.Ser119=) c.177G>A (p.Ser59=) n.99-1676G>A c.261G>A (p.Ser87=) c.25-1676G>A (n.25-1676G>A) c.369G>A (p.Ser123=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957234G>C | CA415858893 | CA6 | c.357G>C (p.Ser119=) c.177G>C (p.Ser59=) n.99-1676G>C c.261G>C (p.Ser87=) c.25-1676G>C (n.25-1676G>C) c.369G>C (p.Ser123=) | |
1 | g.8957234G= | CA1143812364 | CA6 | c.357G= (p.Ser119=) c.177G= (p.Ser59=) n.99-1676G= c.261G= (p.Ser87=) c.25-1676G= (n.25-1676G=) c.369G= (p.Ser123=) | |
1 | g.8957234G>T | CA572969 | CA6 | c.357G>T (p.Ser119=) c.177G>T (p.Ser59=) n.99-1676G>T c.261G>T (p.Ser87=) c.25-1676G>T (n.25-1676G>T) c.369G>T (p.Ser123=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957235del | CA2574200175 | CA6 | c.358del (p.Glu120ArgfsTer15) c.178del (p.Glu60ArgfsTer15) n.99-1675del c.262del (p.Glu88ArgfsTer15) c.25-1675del (n.25-1675del) c.370del (p.Glu124ArgfsTer15) | |
1 | g.8957235G>A | CA338184831 | CA6 | c.358G>A (p.Glu120Lys) c.178G>A (p.Glu60Lys) n.99-1675G>A c.262G>A (p.Glu88Lys) c.25-1675G>A (n.25-1675G>A) c.370G>A (p.Glu124Lys) | |
1 | g.8957235G>C | CA338184833 | CA6 | c.358G>C (p.Glu120Gln) c.178G>C (p.Glu60Gln) n.99-1675G>C c.262G>C (p.Glu88Gln) c.25-1675G>C (n.25-1675G>C) c.370G>C (p.Glu124Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8957235G= | CA1152580808 | CA6 | c.358G= (p.Glu120=) c.178G= (p.Glu60=) n.99-1675G= c.262G= (p.Glu88=) c.25-1675G= (n.25-1675G=) c.370G= (p.Glu124=) | |
1 | g.8957235G>T | CA338184832 | CA6 | c.358G>T (p.Glu120Ter) c.178G>T (p.Glu60Ter) n.99-1675G>T c.262G>T (p.Glu88Ter) c.25-1675G>T (n.25-1675G>T) c.370G>T (p.Glu124Ter) | |
1 | g.8957236A>C | CA338184834 | CA6 | c.359A>C (p.Glu120Ala) c.179A>C (p.Glu60Ala) n.99-1674A>C c.263A>C (p.Glu88Ala) c.25-1674A>C (n.25-1674A>C) c.371A>C (p.Glu124Ala) | |
1 | g.8957236A>G | CA338184835 | CA6 | c.359A>G (p.Glu120Gly) c.179A>G (p.Glu60Gly) n.99-1674A>G c.263A>G (p.Glu88Gly) c.25-1674A>G (n.25-1674A>G) c.371A>G (p.Glu124Gly) | |
1 | g.8957236A>T | CA338184836 | CA6 | c.359A>T (p.Glu120Val) c.179A>T (p.Glu60Val) n.99-1674A>T c.263A>T (p.Glu88Val) c.25-1674A>T (n.25-1674A>T) c.371A>T (p.Glu124Val) | |
1 | g.8957237G>A | CA415858895 | CA6 | c.360G>A (p.Glu120=) c.180G>A (p.Glu60=) n.99-1673G>A c.264G>A (p.Glu88=) c.25-1673G>A (n.25-1673G>A) c.372G>A (p.Glu124=) | |
1 | g.8957237G>C | CA338184837 | CA6 | c.360G>C (p.Glu120Asp) c.180G>C (p.Glu60Asp) n.99-1673G>C c.264G>C (p.Glu88Asp) c.25-1673G>C (n.25-1673G>C) c.372G>C (p.Glu124Asp) | dbSNP gnomAD v4 |
1 | g.8957237G>T | CA338184838 | CA6 | c.360G>T (p.Glu120Asp) c.180G>T (p.Glu60Asp) n.99-1673G>T c.264G>T (p.Glu88Asp) c.25-1673G>T (n.25-1673G>T) c.372G>T (p.Glu124Asp) | |
1 | g.8957238A>C | CA338184839 | CA6 | c.361A>C (p.Ile121Leu) c.181A>C (p.Ile61Leu) n.99-1672A>C c.265A>C (p.Ile89Leu) c.25-1672A>C (n.25-1672A>C) c.373A>C (p.Ile125Leu) | |
1 | g.8957238A>G | CA338184840 | CA6 | c.361A>G (p.Ile121Val) c.181A>G (p.Ile61Val) n.99-1672A>G c.265A>G (p.Ile89Val) c.25-1672A>G (n.25-1672A>G) c.373A>G (p.Ile125Val) | gnomAD v4 |
1 | g.8957238A>T | CA338184841 | CA6 | c.361A>T (p.Ile121Phe) c.181A>T (p.Ile61Phe) n.99-1672A>T c.265A>T (p.Ile89Phe) c.25-1672A>T (n.25-1672A>T) c.373A>T (p.Ile125Phe) | |
1 | g.8957239T>A | CA338184842 | CA6 | c.362T>A (p.Ile121Asn) c.182T>A (p.Ile61Asn) n.99-1671T>A c.266T>A (p.Ile89Asn) c.25-1671T>A (n.25-1671T>A) c.374T>A (p.Ile125Asn) | |
1 | g.8957239T>C | CA338184843 | CA6 | c.362T>C (p.Ile121Thr) c.182T>C (p.Ile61Thr) n.99-1671T>C c.266T>C (p.Ile89Thr) c.25-1671T>C (n.25-1671T>C) c.374T>C (p.Ile125Thr) | |
1 | g.8957239T>G | CA338184844 | CA6 | c.362T>G (p.Ile121Ser) c.182T>G (p.Ile61Ser) n.99-1671T>G c.266T>G (p.Ile89Ser) c.25-1671T>G (n.25-1671T>G) c.374T>G (p.Ile125Ser) | |
1 | g.8957240C>A | CA415858897 | CA6 | c.363C>A (p.Ile121=) c.183C>A (p.Ile61=) n.99-1670C>A c.267C>A (p.Ile89=) c.25-1670C>A (n.25-1670C>A) c.375C>A (p.Ile125=) | |
1 | g.8957240C>G | CA338184845 | CA6 | c.363C>G (p.Ile121Met) c.183C>G (p.Ile61Met) n.99-1670C>G c.267C>G (p.Ile89Met) c.25-1670C>G (n.25-1670C>G) c.375C>G (p.Ile125Met) | |
1 | g.8957240C>T | CA415858899 | CA6 | c.363C>T (p.Ile121=) c.183C>T (p.Ile61=) n.99-1670C>T c.267C>T (p.Ile89=) c.25-1670C>T (n.25-1670C>T) c.375C>T (p.Ile125=) | |
1 | g.8957241A>C | CA338184847 | CA6 | c.364A>C (p.Ser122Arg) c.184A>C (p.Ser62Arg) n.99-1669A>C c.268A>C (p.Ser90Arg) c.25-1669A>C (n.25-1669A>C) c.376A>C (p.Ser126Arg) | |
1 | g.8957241A>G | CA338184848 | CA6 | c.364A>G (p.Ser122Gly) c.184A>G (p.Ser62Gly) n.99-1669A>G c.268A>G (p.Ser90Gly) c.25-1669A>G (n.25-1669A>G) c.376A>G (p.Ser126Gly) | |
1 | g.8957241A>T | CA338184846 | CA6 | c.364A>T (p.Ser122Cys) c.184A>T (p.Ser62Cys) n.99-1669A>T c.268A>T (p.Ser90Cys) c.25-1669A>T (n.25-1669A>T) c.376A>T (p.Ser126Cys) | |
1 | g.8957242G>A | CA338184850 | CA6 | c.365G>A (p.Ser122Asn) c.185G>A (p.Ser62Asn) n.99-1668G>A c.269G>A (p.Ser90Asn) c.25-1668G>A (n.25-1668G>A) c.377G>A (p.Ser126Asn) | |
1 | g.8957242G>C | CA338184849 | CA6 | c.365G>C (p.Ser122Thr) c.185G>C (p.Ser62Thr) n.99-1668G>C c.269G>C (p.Ser90Thr) c.25-1668G>C (n.25-1668G>C) c.377G>C (p.Ser126Thr) | |
1 | g.8957242G>T | CA338184851 | CA6 | c.365G>T (p.Ser122Ile) c.185G>T (p.Ser62Ile) n.99-1668G>T c.269G>T (p.Ser90Ile) c.25-1668G>T (n.25-1668G>T) c.377G>T (p.Ser126Ile) | |
1 | g.8957243C>A | CA338184852 | CA6 | c.366C>A (p.Ser122Arg) c.186C>A (p.Ser62Arg) n.99-1667C>A c.270C>A (p.Ser90Arg) c.25-1667C>A (n.25-1667C>A) c.378C>A (p.Ser126Arg) | |
1 | g.8957243C= | CA1152580810 | CA6 | c.366C= (p.Ser122=) c.186C= (p.Ser62=) n.99-1667C= c.270C= (p.Ser90=) c.25-1667C= (n.25-1667C=) c.378C= (p.Ser126=) | |
1 | g.8957243C>G | CA338184853 | CA6 | c.366C>G (p.Ser122Arg) c.186C>G (p.Ser62Arg) n.99-1667C>G c.270C>G (p.Ser90Arg) c.25-1667C>G (n.25-1667C>G) c.378C>G (p.Ser126Arg) | |
1 | g.8957243C>T | CA415858900 | CA6 | c.366C>T (p.Ser122=) c.186C>T (p.Ser62=) n.99-1667C>T c.270C>T (p.Ser90=) c.25-1667C>T (n.25-1667C>T) c.378C>T (p.Ser126=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8957244G>A | CA572970 | CA6 | c.367G>A (p.Gly123Ser) c.187G>A (p.Gly63Ser) n.99-1666G>A c.271G>A (p.Gly91Ser) c.25-1666G>A (n.25-1666G>A) c.379G>A (p.Gly127Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.8957244G>C | CA338184854 | CA6 | c.367G>C (p.Gly123Arg) c.187G>C (p.Gly63Arg) n.99-1666G>C c.271G>C (p.Gly91Arg) c.25-1666G>C (n.25-1666G>C) c.379G>C (p.Gly127Arg) | |
1 | g.8957244G= | CA1152580814 | CA6 | c.367G= (p.Gly123=) c.187G= (p.Gly63=) n.99-1666G= c.271G= (p.Gly91=) c.25-1666G= (n.25-1666G=) c.379G= (p.Gly127=) | |
1 | g.8957244G>T | CA338184855 | CA6 | c.367G>T (p.Gly123Cys) c.187G>T (p.Gly63Cys) n.99-1666G>T c.271G>T (p.Gly91Cys) c.25-1666G>T (n.25-1666G>T) c.379G>T (p.Gly127Cys) | |
1 | g.8957245G>A | CA338184856 | CA6 | c.368G>A (p.Gly123Asp) c.188G>A (p.Gly63Asp) n.99-1665G>A c.272G>A (p.Gly91Asp) c.25-1665G>A (n.25-1665G>A) c.380G>A (p.Gly127Asp) | |
1 | g.8957245G>C | CA338184857 | CA6 | c.368G>C (p.Gly123Ala) c.188G>C (p.Gly63Ala) n.99-1665G>C c.272G>C (p.Gly91Ala) c.25-1665G>C (n.25-1665G>C) c.380G>C (p.Gly127Ala) | |
1 | g.8957245G>T | CA338184858 | CA6 | c.368G>T (p.Gly123Val) c.188G>T (p.Gly63Val) n.99-1665G>T c.272G>T (p.Gly91Val) c.25-1665G>T (n.25-1665G>T) c.380G>T (p.Gly127Val) | |
1 | g.8957246C>A | CA415858901 | CA6 | c.369C>A (p.Gly123=) c.189C>A (p.Gly63=) n.99-1664C>A c.273C>A (p.Gly91=) c.25-1664C>A (n.25-1664C>A) c.381C>A (p.Gly127=) | |
1 | g.8957246C= | CA1142912230 | CA6 | c.369C= (p.Gly123=) c.189C= (p.Gly63=) n.99-1664C= c.273C= (p.Gly91=) c.25-1664C= (n.25-1664C=) c.381C= (p.Gly127=) | |
1 | g.8957246C>G | CA415858902 | CA6 | c.369C>G (p.Gly123=) c.189C>G (p.Gly63=) n.99-1664C>G c.273C>G (p.Gly91=) c.25-1664C>G (n.25-1664C>G) c.381C>G (p.Gly127=) | |
1 | g.8957246C>T | CA572971 | CA6 | c.369C>T (p.Gly123=) c.189C>T (p.Gly63=) n.99-1664C>T c.273C>T (p.Gly91=) c.25-1664C>T (n.25-1664C>T) c.381C>T (p.Gly127=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957247T>A | CA338184859 | CA6 | c.370T>A (p.Ser124Thr) c.190T>A (p.Ser64Thr) n.99-1663T>A c.274T>A (p.Ser92Thr) c.25-1663T>A (n.25-1663T>A) c.382T>A (p.Ser128Thr) | |
1 | g.8957247T>C | CA338184860 | CA6 | c.370T>C (p.Ser124Pro) c.190T>C (p.Ser64Pro) n.99-1663T>C c.274T>C (p.Ser92Pro) c.25-1663T>C (n.25-1663T>C) c.382T>C (p.Ser128Pro) | |
1 | g.8957247T>G | CA338184861 | CA6 | c.370T>G (p.Ser124Ala) c.190T>G (p.Ser64Ala) n.99-1663T>G c.274T>G (p.Ser92Ala) c.25-1663T>G (n.25-1663T>G) c.382T>G (p.Ser128Ala) | |
1 | g.8957248C>A | CA338184864 | CA6 | c.371C>A (p.Ser124Tyr) c.191C>A (p.Ser64Tyr) n.99-1662C>A c.275C>A (p.Ser92Tyr) c.25-1662C>A (n.25-1662C>A) c.383C>A (p.Ser128Tyr) | |
1 | g.8957248C>G | CA338184862 | CA6 | c.371C>G (p.Ser124Cys) c.191C>G (p.Ser64Cys) n.99-1662C>G c.275C>G (p.Ser92Cys) c.25-1662C>G (n.25-1662C>G) c.383C>G (p.Ser128Cys) | |
1 | g.8957248C>T | CA338184863 | CA6 | c.371C>T (p.Ser124Phe) c.191C>T (p.Ser64Phe) n.99-1662C>T c.275C>T (p.Ser92Phe) c.25-1662C>T (n.25-1662C>T) c.383C>T (p.Ser128Phe) | |
1 | g.8957249T>A | CA415858903 | CA6 | c.372T>A (p.Ser124=) c.192T>A (p.Ser64=) n.99-1661T>A c.276T>A (p.Ser92=) c.25-1661T>A (n.25-1661T>A) c.384T>A (p.Ser128=) | |
1 | g.8957249T>C | CA415858905 | CA6 | c.372T>C (p.Ser124=) c.192T>C (p.Ser64=) n.99-1661T>C c.276T>C (p.Ser92=) c.25-1661T>C (n.25-1661T>C) c.384T>C (p.Ser128=) | |
1 | g.8957249T>G | CA415858904 | CA6 | c.372T>G (p.Ser124=) c.192T>G (p.Ser64=) n.99-1661T>G c.276T>G (p.Ser92=) c.25-1661T>G (n.25-1661T>G) c.384T>G (p.Ser128=) | |
1 | g.8957250G>A | CA338184865 | CA6 | c.373G>A (p.Glu125Lys) c.193G>A (p.Glu65Lys) n.99-1660G>A c.277G>A (p.Glu93Lys) c.25-1660G>A (n.25-1660G>A) c.385G>A (p.Glu129Lys) | dbSNP |
1 | g.8957250G>C | CA338184866 | CA6 | c.373G>C (p.Glu125Gln) c.193G>C (p.Glu65Gln) n.99-1660G>C c.277G>C (p.Glu93Gln) c.25-1660G>C (n.25-1660G>C) c.385G>C (p.Glu129Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8957250G= | CA1152580817 | CA6 | c.373G= (p.Glu125=) c.193G= (p.Glu65=) n.99-1660G= c.277G= (p.Glu93=) c.25-1660G= (n.25-1660G=) c.385G= (p.Glu129=) | |
1 | g.8957250G>T | CA338184867 | CA6 | c.373G>T (p.Glu125Ter) c.193G>T (p.Glu65Ter) n.99-1660G>T c.277G>T (p.Glu93Ter) c.25-1660G>T (n.25-1660G>T) c.385G>T (p.Glu129Ter) | |
1 | g.8957251A>C | CA338184868 | CA6 | c.374A>C (p.Glu125Ala) c.194A>C (p.Glu65Ala) n.99-1659A>C c.278A>C (p.Glu93Ala) c.25-1659A>C (n.25-1659A>C) c.386A>C (p.Glu129Ala) | |
1 | g.8957251A>G | CA338184869 | CA6 | c.374A>G (p.Glu125Gly) c.194A>G (p.Glu65Gly) n.99-1659A>G c.278A>G (p.Glu93Gly) c.25-1659A>G (n.25-1659A>G) c.386A>G (p.Glu129Gly) | |
1 | g.8957251A>T | CA338184870 | CA6 | c.374A>T (p.Glu125Val) c.194A>T (p.Glu65Val) n.99-1659A>T c.278A>T (p.Glu93Val) c.25-1659A>T (n.25-1659A>T) c.386A>T (p.Glu129Val) | |
1 | g.8957252G>A | CA415858906 | CA6 | c.375G>A (p.Glu125=) c.195G>A (p.Glu65=) n.99-1658G>A c.279G>A (p.Glu93=) c.25-1658G>A (n.25-1658G>A) c.387G>A (p.Glu129=) | gnomAD v4 |
1 | g.8957252G>C | CA338184871 | CA6 | c.375G>C (p.Glu125Asp) c.195G>C (p.Glu65Asp) n.99-1658G>C c.279G>C (p.Glu93Asp) c.25-1658G>C (n.25-1658G>C) c.387G>C (p.Glu129Asp) | |
1 | g.8957252G>T | CA338184872 | CA6 | c.375G>T (p.Glu125Asp) c.195G>T (p.Glu65Asp) n.99-1658G>T c.279G>T (p.Glu93Asp) c.25-1658G>T (n.25-1658G>T) c.387G>T (p.Glu129Asp) | |
1 | g.8957253C>A | CA338184873 | CA6 | c.376C>A (p.His126Asn) c.196C>A (p.His66Asn) n.99-1657C>A c.280C>A (p.His94Asn) c.25-1657C>A (n.25-1657C>A) c.388C>A (p.His130Asn) | |
1 | g.8957253C>G | CA338184874 | CA6 | c.376C>G (p.His126Asp) c.196C>G (p.His66Asp) n.99-1657C>G c.280C>G (p.His94Asp) c.25-1657C>G (n.25-1657C>G) c.388C>G (p.His130Asp) | gnomAD v4 |
1 | g.8957253C>T | CA338184875 | CA6 | c.376C>T (p.His126Tyr) c.196C>T (p.His66Tyr) n.99-1657C>T c.280C>T (p.His94Tyr) c.25-1657C>T (n.25-1657C>T) c.388C>T (p.His130Tyr) | gnomAD v4 |
1 | g.8957254A>C | CA338184878 | CA6 | c.377A>C (p.His126Pro) c.197A>C (p.His66Pro) n.99-1656A>C c.281A>C (p.His94Pro) c.25-1656A>C (n.25-1656A>C) c.389A>C (p.His130Pro) | gnomAD v4 |
1 | g.8957254A>G | CA338184877 | CA6 | c.377A>G (p.His126Arg) c.197A>G (p.His66Arg) n.99-1656A>G c.281A>G (p.His94Arg) c.25-1656A>G (n.25-1656A>G) c.389A>G (p.His130Arg) | |
1 | g.8957254A>T | CA338184876 | CA6 | c.377A>T (p.His126Leu) c.197A>T (p.His66Leu) n.99-1656A>T c.281A>T (p.His94Leu) c.25-1656A>T (n.25-1656A>T) c.389A>T (p.His130Leu) | gnomAD v4 |
1 | g.8957255C>A | CA338184879 | CA6 | c.378C>A (p.His126Gln) c.198C>A (p.His66Gln) n.99-1655C>A c.282C>A (p.His94Gln) c.25-1655C>A (n.25-1655C>A) c.390C>A (p.His130Gln) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8957255C= | CA1152580820 | CA6 | c.378C= (p.His126=) c.198C= (p.His66=) n.99-1655C= c.282C= (p.His94=) c.25-1655C= (n.25-1655C=) c.390C= (p.His130=) | |
1 | g.8957255C>G | CA338184880 | CA6 | c.378C>G (p.His126Gln) c.198C>G (p.His66Gln) n.99-1655C>G c.282C>G (p.His94Gln) c.25-1655C>G (n.25-1655C>G) c.390C>G (p.His130Gln) | |
1 | g.8957255C>T | CA415858907 | CA6 | c.378C>T (p.His126=) c.198C>T (p.His66=) n.99-1655C>T c.282C>T (p.His94=) c.25-1655C>T (n.25-1655C>T) c.390C>T (p.His130=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8957256A>C | CA338184881 | CA6 | c.379A>C (p.Thr127Pro) c.199A>C (p.Thr67Pro) n.99-1654A>C c.283A>C (p.Thr95Pro) c.25-1654A>C (n.25-1654A>C) c.391A>C (p.Thr131Pro) | |
1 | g.8957256A>G | CA338184882 | CA6 | c.379A>G (p.Thr127Ala) c.199A>G (p.Thr67Ala) n.99-1654A>G c.283A>G (p.Thr95Ala) c.25-1654A>G (n.25-1654A>G) c.391A>G (p.Thr131Ala) | |
1 | g.8957256A>T | CA338184883 | CA6 | c.379A>T (p.Thr127Ser) c.199A>T (p.Thr67Ser) n.99-1654A>T c.283A>T (p.Thr95Ser) c.25-1654A>T (n.25-1654A>T) c.391A>T (p.Thr131Ser) | |
1 | g.8957257C>A | CA338184884 | CA6 | c.380C>A (p.Thr127Asn) c.200C>A (p.Thr67Asn) n.99-1653C>A c.284C>A (p.Thr95Asn) c.25-1653C>A (n.25-1653C>A) c.392C>A (p.Thr131Asn) | |
1 | g.8957257C>G | CA338184885 | CA6 | c.380C>G (p.Thr127Ser) c.200C>G (p.Thr67Ser) n.99-1653C>G c.284C>G (p.Thr95Ser) c.25-1653C>G (n.25-1653C>G) c.392C>G (p.Thr131Ser) | |
1 | g.8957257C>T | CA338184886 | CA6 | c.380C>T (p.Thr127Ile) c.200C>T (p.Thr67Ile) n.99-1653C>T c.284C>T (p.Thr95Ile) c.25-1653C>T (n.25-1653C>T) c.392C>T (p.Thr131Ile) | |
1 | g.8957258C>A | CA415858908 | CA6 | c.381C>A (p.Thr127=) c.201C>A (p.Thr67=) n.99-1652C>A c.285C>A (p.Thr95=) c.25-1652C>A (n.25-1652C>A) c.393C>A (p.Thr131=) | |
1 | g.8957258C= | CA1143444035 | CA6 | c.381C= (p.Thr127=) c.201C= (p.Thr67=) n.99-1652C= c.285C= (p.Thr95=) c.25-1652C= (n.25-1652C=) c.393C= (p.Thr131=) | |
1 | g.8957258C>G | CA415858909 | CA6 | c.381C>G (p.Thr127=) c.201C>G (p.Thr67=) n.99-1652C>G c.285C>G (p.Thr95=) c.25-1652C>G (n.25-1652C>G) c.393C>G (p.Thr131=) | gnomAD v4 |
1 | g.8957258C>T | CA572972 | CA6 | c.381C>T (p.Thr127=) c.201C>T (p.Thr67=) n.99-1652C>T c.285C>T (p.Thr95=) c.25-1652C>T (n.25-1652C>T) c.393C>T (p.Thr131=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957259G>A | CA17706892 | CA6 | c.382G>A (p.Val128Met) c.202G>A (p.Val68Met) n.99-1651G>A c.286G>A (p.Val96Met) c.25-1651G>A (n.25-1651G>A) c.394G>A (p.Val132Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957259G>C | CA338184887 | CA6 | c.382G>C (p.Val128Leu) c.202G>C (p.Val68Leu) n.99-1651G>C c.286G>C (p.Val96Leu) c.25-1651G>C (n.25-1651G>C) c.394G>C (p.Val132Leu) | |
1 | g.8957259G= | CA1152580825 | CA6 | c.382G= (p.Val128=) c.202G= (p.Val68=) n.99-1651G= c.286G= (p.Val96=) c.25-1651G= (n.25-1651G=) c.394G= (p.Val132=) | |
1 | g.8957259G>T | CA338184888 | CA6 | c.382G>T (p.Val128Leu) c.202G>T (p.Val68Leu) n.99-1651G>T c.286G>T (p.Val96Leu) c.25-1651G>T (n.25-1651G>T) c.394G>T (p.Val132Leu) | |
1 | g.8957260T>A | CA338184891 | CA6 | c.383T>A (p.Val128Glu) c.203T>A (p.Val68Glu) n.99-1650T>A c.287T>A (p.Val96Glu) c.25-1650T>A (n.25-1650T>A) c.395T>A (p.Val132Glu) | |
1 | g.8957260T>C | CA338184889 | CA6 | c.383T>C (p.Val128Ala) c.203T>C (p.Val68Ala) n.99-1650T>C c.287T>C (p.Val96Ala) c.25-1650T>C (n.25-1650T>C) c.395T>C (p.Val132Ala) | gnomAD v4 |
1 | g.8957260T>G | CA338184890 | CA6 | c.383T>G (p.Val128Gly) c.203T>G (p.Val68Gly) n.99-1650T>G c.287T>G (p.Val96Gly) c.25-1650T>G (n.25-1650T>G) c.395T>G (p.Val132Gly) | |
1 | g.8957261G>A | CA415858910 | CA6 | c.384G>A (p.Val128=) c.204G>A (p.Val68=) n.99-1649G>A c.288G>A (p.Val96=) c.25-1649G>A (n.25-1649G>A) c.396G>A (p.Val132=) | |
1 | g.8957261G>C | CA415858911 | CA6 | c.384G>C (p.Val128=) c.204G>C (p.Val68=) n.99-1649G>C c.288G>C (p.Val96=) c.25-1649G>C (n.25-1649G>C) c.396G>C (p.Val132=) | gnomAD v4 |
1 | g.8957261G= | CA1152580828 | CA6 | c.384G= (p.Val128=) c.204G= (p.Val68=) n.99-1649G= c.288G= (p.Val96=) c.25-1649G= (n.25-1649G=) c.396G= (p.Val132=) | |
1 | g.8957261G>T | CA415858912 | CA6 | c.384G>T (p.Val128=) c.204G>T (p.Val68=) n.99-1649G>T c.288G>T (p.Val96=) c.25-1649G>T (n.25-1649G>T) c.396G>T (p.Val132=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8957262G>A | CA338184892 | CA6 | c.385G>A (p.Asp129Asn) c.205G>A (p.Asp69Asn) n.99-1648G>A c.289G>A (p.Asp97Asn) c.25-1648G>A (n.25-1648G>A) c.397G>A (p.Asp133Asn) | COSMIC |
1 | g.8957262G>C | CA338184893 | CA6 | c.385G>C (p.Asp129His) c.205G>C (p.Asp69His) n.99-1648G>C c.289G>C (p.Asp97His) c.25-1648G>C (n.25-1648G>C) c.397G>C (p.Asp133His) | |
1 | g.8957262G>T | CA338184894 | CA6 | c.385G>T (p.Asp129Tyr) c.205G>T (p.Asp69Tyr) n.99-1648G>T c.289G>T (p.Asp97Tyr) c.25-1648G>T (n.25-1648G>T) c.397G>T (p.Asp133Tyr) | gnomAD v4 |
1 | g.8957263A= | CA1152580831 | CA6 | c.386A= (p.Asp129=) c.206A= (p.Asp69=) n.99-1647A= c.290A= (p.Asp97=) c.25-1647A= (n.25-1647A=) c.398A= (p.Asp133=) | |
1 | g.8957263A>C | CA338184895 | CA6 | c.386A>C (p.Asp129Ala) c.206A>C (p.Asp69Ala) n.99-1647A>C c.290A>C (p.Asp97Ala) c.25-1647A>C (n.25-1647A>C) c.398A>C (p.Asp133Ala) | |
1 | g.8957263A>G | CA338184896 | CA6 | c.386A>G (p.Asp129Gly) c.206A>G (p.Asp69Gly) n.99-1647A>G c.290A>G (p.Asp97Gly) c.25-1647A>G (n.25-1647A>G) c.398A>G (p.Asp133Gly) | gnomAD v4 |
1 | g.8957263A>T | CA572973 | CA6 | c.386A>T (p.Asp129Val) c.206A>T (p.Asp69Val) n.99-1647A>T c.290A>T (p.Asp97Val) c.25-1647A>T (n.25-1647A>T) c.398A>T (p.Asp133Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8957264C>A | CA338184897 | CA6 | c.387C>A (p.Asp129Glu) c.207C>A (p.Asp69Glu) n.99-1646C>A c.291C>A (p.Asp97Glu) c.25-1646C>A (n.25-1646C>A) c.399C>A (p.Asp133Glu) | COSMIC |
1 | g.8957264C= | CA1142097734 | CA6 | c.387C= (p.Asp129=) c.207C= (p.Asp69=) n.99-1646C= c.291C= (p.Asp97=) c.25-1646C= (n.25-1646C=) c.399C= (p.Asp133=) | |
1 | g.8957264C>G | CA338184898 | CA6 | c.387C>G (p.Asp129Glu) c.207C>G (p.Asp69Glu) n.99-1646C>G c.291C>G (p.Asp97Glu) c.25-1646C>G (n.25-1646C>G) c.399C>G (p.Asp133Glu) | |
1 | g.8957264C>T | CA572974 | CA6 | c.387C>T (p.Asp129=) c.207C>T (p.Asp69=) n.99-1646C>T c.291C>T (p.Asp97=) c.25-1646C>T (n.25-1646C>T) c.399C>T (p.Asp133=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957265G>A | CA572975 | CA6 | c.388G>A (p.Gly130Arg) c.208G>A (p.Gly70Arg) n.99-1645G>A c.292G>A (p.Gly98Arg) c.25-1645G>A (n.25-1645G>A) c.400G>A (p.Gly134Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.8957265G>C | CA338184899 | CA6 | c.388G>C (p.Gly130Arg) c.208G>C (p.Gly70Arg) n.99-1645G>C c.292G>C (p.Gly98Arg) c.25-1645G>C (n.25-1645G>C) c.400G>C (p.Gly134Arg) | |
1 | g.8957265G= | CA1146417239 | CA6 | c.388G= (p.Gly130=) c.208G= (p.Gly70=) n.99-1645G= c.292G= (p.Gly98=) c.25-1645G= (n.25-1645G=) c.400G= (p.Gly134=) | |
1 | g.8957265G>T | CA338184900 | CA6 | c.388G>T (p.Gly130Trp) c.208G>T (p.Gly70Trp) n.99-1645G>T c.292G>T (p.Gly98Trp) c.25-1645G>T (n.25-1645G>T) c.400G>T (p.Gly134Trp) | |
1 | g.8957266G>A | CA338184901 | CA6 | c.389G>A (p.Gly130Glu) c.209G>A (p.Gly70Glu) n.99-1644G>A c.293G>A (p.Gly98Glu) c.25-1644G>A (n.25-1644G>A) c.401G>A (p.Gly134Glu) | COSMIC |
1 | g.8957266G>C | CA338184902 | CA6 | c.389G>C (p.Gly130Ala) c.209G>C (p.Gly70Ala) n.99-1644G>C c.293G>C (p.Gly98Ala) c.25-1644G>C (n.25-1644G>C) c.401G>C (p.Gly134Ala) | |
1 | g.8957266G= | CA1152580834 | CA6 | c.389G= (p.Gly130=) c.209G= (p.Gly70=) n.99-1644G= c.293G= (p.Gly98=) c.25-1644G= (n.25-1644G=) c.401G= (p.Gly134=) | |
1 | g.8957266G>T | CA572976 | CA6 | c.389G>T (p.Gly130Val) c.209G>T (p.Gly70Val) n.99-1644G>T c.293G>T (p.Gly98Val) c.25-1644G>T (n.25-1644G>T) c.401G>T (p.Gly134Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957267G>A | CA415858913 | CA6 | c.390G>A (p.Gly130=) c.210G>A (p.Gly70=) n.99-1643G>A c.294G>A (p.Gly98=) c.25-1643G>A (n.25-1643G>A) c.402G>A (p.Gly134=) | COSMIC |
1 | g.8957267G>C | CA415858914 | CA6 | c.390G>C (p.Gly130=) c.210G>C (p.Gly70=) n.99-1643G>C c.294G>C (p.Gly98=) c.25-1643G>C (n.25-1643G>C) c.402G>C (p.Gly134=) | |
1 | g.8957267G>T | CA415858915 | CA6 | c.390G>T (p.Gly130=) c.210G>T (p.Gly70=) n.99-1643G>T c.294G>T (p.Gly98=) c.25-1643G>T (n.25-1643G>T) c.402G>T (p.Gly134=) | COSMIC |
1 | g.8957268A= | CA1144009013 | CA6 | c.391A= (p.Ile131=) c.211A= (p.Ile71=) n.99-1642A= c.295A= (p.Ile99=) c.25-1642A= (n.25-1642A=) c.403A= (p.Ile135=) | |
1 | g.8957268A>C | CA338184904 | CA6 | c.391A>C (p.Ile131Leu) c.211A>C (p.Ile71Leu) n.99-1642A>C c.295A>C (p.Ile99Leu) c.25-1642A>C (n.25-1642A>C) c.403A>C (p.Ile135Leu) | |
1 | g.8957268A>G | CA338184903 | CA6 | c.391A>G (p.Ile131Val) c.211A>G (p.Ile71Val) n.99-1642A>G c.295A>G (p.Ile99Val) c.25-1642A>G (n.25-1642A>G) c.403A>G (p.Ile135Val) | |
1 | g.8957268A>T | CA572977 | CA6 | c.391A>T (p.Ile131Phe) c.211A>T (p.Ile71Phe) n.99-1642A>T c.295A>T (p.Ile99Phe) c.25-1642A>T (n.25-1642A>T) c.403A>T (p.Ile135Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957269T>A | CA338184905 | CA6 | c.392T>A (p.Ile131Asn) c.212T>A (p.Ile71Asn) n.99-1641T>A c.296T>A (p.Ile99Asn) c.25-1641T>A (n.25-1641T>A) c.404T>A (p.Ile135Asn) | |
1 | g.8957269T>C | CA338184906 | CA6 | c.392T>C (p.Ile131Thr) c.212T>C (p.Ile71Thr) n.99-1641T>C c.296T>C (p.Ile99Thr) c.25-1641T>C (n.25-1641T>C) c.404T>C (p.Ile135Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8957269T>G | CA338184907 | CA6 | c.392T>G (p.Ile131Ser) c.212T>G (p.Ile71Ser) n.99-1641T>G c.296T>G (p.Ile99Ser) c.25-1641T>G (n.25-1641T>G) c.404T>G (p.Ile135Ser) | |
1 | g.8957269T= | CA1152580835 | CA6 | c.392T= (p.Ile131=) c.212T= (p.Ile71=) n.99-1641T= c.296T= (p.Ile99=) c.25-1641T= (n.25-1641T=) c.404T= (p.Ile135=) | |
1 | g.8957270C>A | CA415858916 | CA6 | c.393C>A (p.Ile131=) c.213C>A (p.Ile71=) n.99-1640C>A c.297C>A (p.Ile99=) c.25-1640C>A (n.25-1640C>A) c.405C>A (p.Ile135=) | |
1 | g.8957270C= | CA1152580837 | CA6 | c.393C= (p.Ile131=) c.213C= (p.Ile71=) n.99-1640C= c.297C= (p.Ile99=) c.25-1640C= (n.25-1640C=) c.405C= (p.Ile135=) | |
1 | g.8957270C>G | CA338184908 | CA6 | c.393C>G (p.Ile131Met) c.213C>G (p.Ile71Met) n.99-1640C>G c.297C>G (p.Ile99Met) c.25-1640C>G (n.25-1640C>G) c.405C>G (p.Ile135Met) | |
1 | g.8957270C>T | CA17706995 | CA6 | c.393C>T (p.Ile131=) c.213C>T (p.Ile71=) n.99-1640C>T c.297C>T (p.Ile99=) c.25-1640C>T (n.25-1640C>T) c.405C>T (p.Ile135=) | dbSNP gnomAD v4 |
1 | g.8957271A>C | CA415858917 | CA6 | c.394A>C (p.Arg132=) c.214A>C (p.Arg72=) n.99-1639A>C c.298A>C (p.Arg100=) c.25-1639A>C (n.25-1639A>C) c.406A>C (p.Arg136=) | dbSNP |
1 | g.8957271A>G | CA338184909 | CA6 | c.394A>G (p.Arg132Gly) c.214A>G (p.Arg72Gly) n.99-1639A>G c.298A>G (p.Arg100Gly) c.25-1639A>G (n.25-1639A>G) c.406A>G (p.Arg136Gly) | |
1 | g.8957271A>T | CA338184910 | CA6 | c.394A>T (p.Arg132Ter) c.214A>T (p.Arg72Ter) n.99-1639A>T c.298A>T (p.Arg100Ter) c.25-1639A>T (n.25-1639A>T) c.406A>T (p.Arg136Ter) | |
1 | g.8957272G>A | CA338184911 | CA6 | c.395G>A (p.Arg132Lys) c.215G>A (p.Arg72Lys) n.99-1638G>A c.299G>A (p.Arg100Lys) c.25-1638G>A (n.25-1638G>A) c.407G>A (p.Arg136Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8957272G>C | CA338184912 | CA6 | c.395G>C (p.Arg132Thr) c.215G>C (p.Arg72Thr) n.99-1638G>C c.299G>C (p.Arg100Thr) c.25-1638G>C (n.25-1638G>C) c.407G>C (p.Arg136Thr) | COSMIC |
1 | g.8957272G= | CA1152580842 | CA6 | c.395G= (p.Arg132=) c.215G= (p.Arg72=) n.99-1638G= c.299G= (p.Arg100=) c.25-1638G= (n.25-1638G=) c.407G= (p.Arg136=) | |
1 | g.8957272G>T | CA338184913 | CA6 | c.395G>T (p.Arg132Ile) c.215G>T (p.Arg72Ile) n.99-1638G>T c.299G>T (p.Arg100Ile) c.25-1638G>T (n.25-1638G>T) c.407G>T (p.Arg136Ile) | |
1 | g.8957273A>C | CA338184914 | CA6 | c.396A>C (p.Arg132Ser) c.216A>C (p.Arg72Ser) n.99-1637A>C c.300A>C (p.Arg100Ser) c.25-1637A>C (n.25-1637A>C) c.408A>C (p.Arg136Ser) | |
1 | g.8957273A>G | CA415858918 | CA6 | c.396A>G (p.Arg132=) c.216A>G (p.Arg72=) n.99-1637A>G c.300A>G (p.Arg100=) c.25-1637A>G (n.25-1637A>G) c.408A>G (p.Arg136=) | |
1 | g.8957273A>T | CA338184915 | CA6 | c.396A>T (p.Arg132Ser) c.216A>T (p.Arg72Ser) n.99-1637A>T c.300A>T (p.Arg100Ser) c.25-1637A>T (n.25-1637A>T) c.408A>T (p.Arg136Ser) | |
1 | g.8957274C>A | CA338184916 | CA6 | c.397C>A (p.His133Asn) c.217C>A (p.His73Asn) n.99-1636C>A c.301C>A (p.His101Asn) c.25-1636C>A (n.25-1636C>A) c.409C>A (p.His137Asn) | |
1 | g.8957274C= | CA1152580843 | CA6 | c.397C= (p.His133=) c.217C= (p.His73=) n.99-1636C= c.301C= (p.His101=) c.25-1636C= (n.25-1636C=) c.409C= (p.His137=) | |
1 | g.8957274C>G | CA338184918 | CA6 | c.397C>G (p.His133Asp) c.217C>G (p.His73Asp) n.99-1636C>G c.301C>G (p.His101Asp) c.25-1636C>G (n.25-1636C>G) c.409C>G (p.His137Asp) | |
1 | g.8957274C>T | CA338184917 | CA6 | c.397C>T (p.His133Tyr) c.217C>T (p.His73Tyr) n.99-1636C>T c.301C>T (p.His101Tyr) c.25-1636C>T (n.25-1636C>T) c.409C>T (p.His137Tyr) | dbSNP gnomAD v4 |
1 | g.8957274_8957276delinsCAT | CA1152580844 | CA6 | c.397_399delinsCAT (p.His133=) c.217_219delinsCAT (p.His73=) n.99-1636_99-1634delinsCAT c.301_303delinsCAT (p.His101=) c.25-1636_25-1634delinsCAT (n.25-1636_25-1634delinsCAT) c.409_411delinsCAT (p.His137=) | |
1 | g.8957275A= | CA1152580848 | CA6 | c.398A= (p.His133=) c.218A= (p.His73=) n.99-1635A= c.302A= (p.His101=) c.25-1635A= (n.25-1635A=) c.410A= (p.His137=) | |
1 | g.8957275A>C | CA338184919 | CA6 | c.398A>C (p.His133Pro) c.218A>C (p.His73Pro) n.99-1635A>C c.302A>C (p.His101Pro) c.25-1635A>C (n.25-1635A>C) c.410A>C (p.His137Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8957275A>G | CA338184920 | CA6 | c.398A>G (p.His133Arg) c.218A>G (p.His73Arg) n.99-1635A>G c.302A>G (p.His101Arg) c.25-1635A>G (n.25-1635A>G) c.410A>G (p.His137Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957275A>T | CA338184921 | CA6 | c.398A>T (p.His133Leu) c.218A>T (p.His73Leu) n.99-1635A>T c.302A>T (p.His101Leu) c.25-1635A>T (n.25-1635A>T) c.410A>T (p.His137Leu) | |
1 | g.8957275_8957276del | CA415858919 | CA6 | c.398_399del (p.His133ArgfsTer12) c.218_219del (p.His73ArgfsTer12) n.99-1635_99-1634del c.302_303del (p.His101ArgfsTer12) c.25-1635_25-1634del (n.25-1635_25-1634del) c.410_411del (p.His137ArgfsTer12) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957276T>A | CA338184922 | CA6 | c.399T>A (p.His133Gln) c.219T>A (p.His73Gln) n.99-1634T>A c.303T>A (p.His101Gln) c.25-1634T>A (n.25-1634T>A) c.411T>A (p.His137Gln) | |
1 | g.8957276T>C | CA415858920 | CA6 | c.399T>C (p.His133=) c.219T>C (p.His73=) n.99-1634T>C c.303T>C (p.His101=) c.25-1634T>C (n.25-1634T>C) c.411T>C (p.His137=) | gnomAD v4 |
1 | g.8957276T>G | CA338184923 | CA6 | c.399T>G (p.His133Gln) c.219T>G (p.His73Gln) n.99-1634T>G c.303T>G (p.His101Gln) c.25-1634T>G (n.25-1634T>G) c.411T>G (p.His137Gln) | |
1 | g.8957277G>A | CA572978 | CA6 | c.400G>A (p.Val134Met) c.220G>A (p.Val74Met) n.99-1633G>A c.304G>A (p.Val102Met) c.25-1633G>A (n.25-1633G>A) c.412G>A (p.Val138Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8957277G>C | CA338184924 | CA6 | c.400G>C (p.Val134Leu) c.220G>C (p.Val74Leu) n.99-1633G>C c.304G>C (p.Val102Leu) c.25-1633G>C (n.25-1633G>C) c.412G>C (p.Val138Leu) | |
1 | g.8957277G= | CA1152580850 | CA6 | c.400G= (p.Val134=) c.220G= (p.Val74=) n.99-1633G= c.304G= (p.Val102=) c.25-1633G= (n.25-1633G=) c.412G= (p.Val138=) | |
1 | g.8957277G>T | CA338184925 | CA6 | c.400G>T (p.Val134Leu) c.220G>T (p.Val74Leu) n.99-1633G>T c.304G>T (p.Val102Leu) c.25-1633G>T (n.25-1633G>T) c.412G>T (p.Val138Leu) | |
1 | g.8957278T>A | CA338184926 | CA6 | c.401T>A (p.Val134Glu) c.221T>A (p.Val74Glu) n.99-1632T>A c.305T>A (p.Val102Glu) c.25-1632T>A (n.25-1632T>A) c.413T>A (p.Val138Glu) | |
1 | g.8957278T>C | CA338184927 | CA6 | c.401T>C (p.Val134Ala) c.221T>C (p.Val74Ala) n.99-1632T>C c.305T>C (p.Val102Ala) c.25-1632T>C (n.25-1632T>C) c.413T>C (p.Val138Ala) | |
1 | g.8957278T>G | CA338184928 | CA6 | c.401T>G (p.Val134Gly) c.221T>G (p.Val74Gly) n.99-1632T>G c.305T>G (p.Val102Gly) c.25-1632T>G (n.25-1632T>G) c.413T>G (p.Val138Gly) |