Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121145949A= | CA2004737603 | TBCEL-TECTA,TECTA | c.3938A= (p.Lys1313=) c.1245A= n.503A= c.4895A= (p.Lys1632=) | |
11 | g.121145949A>C | CA383022827 | TBCEL-TECTA,TECTA | c.3938A>C (p.Lys1313Thr) c.1245A>C n.503A>C c.4895A>C (p.Lys1632Thr) | |
11 | g.121145949A>G | CA383022828 | TBCEL-TECTA,TECTA | c.3938A>G (p.Lys1313Arg) c.1245A>G n.503A>G c.4895A>G (p.Lys1632Arg) | dbSNP gnomAD v4 |
11 | g.121145949A>T | CA383022829 | TBCEL-TECTA,TECTA | c.3938A>T (p.Lys1313Met) c.1245A>T n.503A>T c.4895A>T (p.Lys1632Met) | |
11 | g.121145949_121145950insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG | CA2616488598 | TBCEL-TECTA,TECTA | c.3938_3939insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (p.Lys1313AsnfsTer27) c.1245_1246insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG n.503_504insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG c.4895_4896insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (p.Lys1632AsnfsTer27) | gnomAD v4 |
11 | g.121145950G>A | CA477382991 | TBCEL-TECTA,TECTA | c.3939G>A (p.Lys1313=) c.1246G>A n.504G>A c.4896G>A (p.Lys1632=) | gnomAD v4 |
11 | g.121145950G>C | CA383022830 | TBCEL-TECTA,TECTA | c.3939G>C (p.Lys1313Asn) c.1246G>C n.504G>C c.4896G>C (p.Lys1632Asn) | |
11 | g.121145950G>T | CA383022831 | TBCEL-TECTA,TECTA | c.3939G>T (p.Lys1313Asn) c.1246G>T n.504G>T c.4896G>T (p.Lys1632Asn) | |
11 | g.121145951T>A | CA383022833 | TBCEL-TECTA,TECTA | c.3940T>A (p.Cys1314Ser) c.1247T>A n.505T>A c.4897T>A (p.Cys1633Ser) | dbSNP gnomAD v4 |
11 | g.121145951T>C | CA6327315 | TBCEL-TECTA,TECTA | c.3940T>C (p.Cys1314Arg) c.1247T>C n.505T>C c.4897T>C (p.Cys1633Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145951T>G | CA383022832 | TBCEL-TECTA,TECTA | c.3940T>G (p.Cys1314Gly) c.1247T>G n.505T>G c.4897T>G (p.Cys1633Gly) | |
11 | g.121145951T= | CA2004737604 | TBCEL-TECTA,TECTA | c.3940T= (p.Cys1314=) c.1247T= n.505T= c.4897T= (p.Cys1633=) | |
11 | g.121145952G>A | CA383022834 | TBCEL-TECTA,TECTA | c.3941G>A (p.Cys1314Tyr) c.1248G>A n.506G>A c.4898G>A (p.Cys1633Tyr) | |
11 | g.121145952G>C | CA383022835 | TBCEL-TECTA,TECTA | c.3941G>C (p.Cys1314Ser) c.1248G>C n.506G>C c.4898G>C (p.Cys1633Ser) | |
11 | g.121145952G>T | CA383022836 | TBCEL-TECTA,TECTA | c.3941G>T (p.Cys1314Phe) c.1248G>T n.506G>T c.4898G>T (p.Cys1633Phe) | |
11 | g.121145953T>A | CA229831697 | TBCEL-TECTA,TECTA | c.3942T>A (p.Cys1314Ter) c.1249T>A n.507T>A c.4899T>A (p.Cys1633Ter) | dbSNP |
11 | g.121145953T>C | CA477382998 | TBCEL-TECTA,TECTA | c.3942T>C (p.Cys1314=) c.1249T>C n.507T>C c.4899T>C (p.Cys1633=) | |
11 | g.121145953T>G | CA383022837 | TBCEL-TECTA,TECTA | c.3942T>G (p.Cys1314Trp) c.1249T>G n.507T>G c.4899T>G (p.Cys1633Trp) | |
11 | g.121145953T= | CA2004737605 | TBCEL-TECTA,TECTA | c.3942T= (p.Cys1314=) c.1249T= n.507T= c.4899T= (p.Cys1633=) | |
11 | g.121145954C>A | CA383022840 | TBCEL-TECTA,TECTA | c.3943C>A (p.His1315Asn) c.1250C>A n.508C>A c.4900C>A (p.His1634Asn) | |
11 | g.121145954C>G | CA383022838 | TBCEL-TECTA,TECTA | c.3943C>G (p.His1315Asp) c.1250C>G n.508C>G c.4900C>G (p.His1634Asp) | |
11 | g.121145954C>T | CA383022839 | TBCEL-TECTA,TECTA | c.3943C>T (p.His1315Tyr) c.1250C>T n.508C>T c.4900C>T (p.His1634Tyr) | |
11 | g.121145955A>C | CA383022841 | TBCEL-TECTA,TECTA | c.3944A>C (p.His1315Pro) c.1251A>C n.509A>C c.4901A>C (p.His1634Pro) | |
11 | g.121145955A>G | CA383022842 | TBCEL-TECTA,TECTA | c.3944A>G (p.His1315Arg) c.1251A>G n.509A>G c.4901A>G (p.His1634Arg) | |
11 | g.121145955A>T | CA383022843 | TBCEL-TECTA,TECTA | c.3944A>T (p.His1315Leu) c.1251A>T n.509A>T c.4901A>T (p.His1634Leu) | COSMIC |
11 | g.121145956C>A | CA383022844 | TBCEL-TECTA,TECTA | c.3945C>A (p.His1315Gln) c.1252C>A n.510C>A c.4902C>A (p.His1634Gln) | |
11 | g.121145956C= | CA2004737606 | TBCEL-TECTA,TECTA | c.3945C= (p.His1315=) c.1252C= n.510C= c.4902C= (p.His1634=) | |
11 | g.121145956C>G | CA383022845 | TBCEL-TECTA,TECTA | c.3945C>G (p.His1315Gln) c.1252C>G n.510C>G c.4902C>G (p.His1634Gln) | |
11 | g.121145956C>T | CA6327316 | TBCEL-TECTA,TECTA | c.3945C>T (p.His1315=) c.1252C>T n.510C>T c.4902C>T (p.His1634=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145957A>C | CA383022848 | TBCEL-TECTA,TECTA | c.3946A>C (p.Ser1316Arg) c.1253A>C n.511A>C c.4903A>C (p.Ser1635Arg) | |
11 | g.121145957A>G | CA383022847 | TBCEL-TECTA,TECTA | c.3946A>G (p.Ser1316Gly) c.1253A>G n.511A>G c.4903A>G (p.Ser1635Gly) | |
11 | g.121145957A>T | CA383022846 | TBCEL-TECTA,TECTA | c.3946A>T (p.Ser1316Cys) c.1253A>T n.511A>T c.4903A>T (p.Ser1635Cys) | |
11 | g.121145958G>A | CA383022849 | TBCEL-TECTA,TECTA | c.3947G>A (p.Ser1316Asn) c.1254G>A n.512G>A c.4904G>A (p.Ser1635Asn) | dbSNP gnomAD v4 |
11 | g.121145958G>C | CA383022850 | TBCEL-TECTA,TECTA | c.3947G>C (p.Ser1316Thr) c.1254G>C n.512G>C c.4904G>C (p.Ser1635Thr) | ClinVar dbSNP |
11 | g.121145958G= | CA2004737607 | TBCEL-TECTA,TECTA | c.3947G= (p.Ser1316=) c.1254G= n.512G= c.4904G= (p.Ser1635=) | |
11 | g.121145958G>T | CA383022851 | TBCEL-TECTA,TECTA | c.3947G>T (p.Ser1316Ile) c.1254G>T n.512G>T c.4904G>T (p.Ser1635Ile) | |
11 | g.121145959C>A | CA383022852 | TBCEL-TECTA,TECTA | c.3948C>A (p.Ser1316Arg) c.1255C>A n.513C>A c.4905C>A (p.Ser1635Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145959C= | CA2004737608 | TBCEL-TECTA,TECTA | c.3948C= (p.Ser1316=) c.1255C= n.513C= c.4905C= (p.Ser1635=) | |
11 | g.121145959C>G | CA383022853 | TBCEL-TECTA,TECTA | c.3948C>G (p.Ser1316Arg) c.1255C>G n.513C>G c.4905C>G (p.Ser1635Arg) | |
11 | g.121145959C>T | CA477383002 | TBCEL-TECTA,TECTA | c.3948C>T (p.Ser1316=) c.1255C>T n.513C>T c.4905C>T (p.Ser1635=) | |
11 | g.121145959_121145961delinsCAA | CA2004737609 | TBCEL-TECTA,TECTA | c.3948_3950delinsCAA (p.Ser1316=) c.1255_1257delinsCAA n.513_515delinsCAA c.4905_4907delinsCAA (p.Ser1635=) | |
11 | g.121145960A>C | CA383022856 | TBCEL-TECTA,TECTA | c.3949A>C (p.Lys1317Gln) c.1256A>C n.514A>C c.4906A>C (p.Lys1636Gln) | |
11 | g.121145960A>G | CA383022854 | TBCEL-TECTA,TECTA | c.3949A>G (p.Lys1317Glu) c.1256A>G n.514A>G c.4906A>G (p.Lys1636Glu) | |
11 | g.121145960A>T | CA383022855 | TBCEL-TECTA,TECTA | c.3949A>T (p.Lys1317Ter) c.1256A>T n.514A>T c.4906A>T (p.Lys1636Ter) | |
11 | g.121145961_121145962del | CA229831701 | TBCEL-TECTA,TECTA | c.3950_3951del (p.Lys1317SerfsTer2) c.1257_1258del n.515_516del c.4907_4908del (p.Lys1636SerfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145961A>C | CA383022857 | TBCEL-TECTA,TECTA | c.3950A>C (p.Lys1317Thr) c.1257A>C n.515A>C c.4907A>C (p.Lys1636Thr) | |
11 | g.121145961A>G | CA383022858 | TBCEL-TECTA,TECTA | c.3950A>G (p.Lys1317Arg) c.1257A>G n.515A>G c.4907A>G (p.Lys1636Arg) | |
11 | g.121145961A>T | CA383022859 | TBCEL-TECTA,TECTA | c.3950A>T (p.Lys1317Ile) c.1257A>T n.515A>T c.4907A>T (p.Lys1636Ile) | |
11 | g.121145962A>C | CA383022860 | TBCEL-TECTA,TECTA | c.3951A>C (p.Lys1317Asn) c.1258A>C n.516A>C c.4908A>C (p.Lys1636Asn) | |
11 | g.121145962A>G | CA477383120 | TBCEL-TECTA,TECTA | c.3951A>G (p.Lys1317=) c.1258A>G n.516A>G c.4908A>G (p.Lys1636=) | |
11 | g.121145962A>T | CA383022861 | TBCEL-TECTA,TECTA | c.3951A>T (p.Lys1317Asn) c.1258A>T n.516A>T c.4908A>T (p.Lys1636Asn) | |
11 | g.121145963G>A | CA383022862 | TBCEL-TECTA,TECTA | c.3952G>A (p.Val1318Ile) c.1259G>A n.517G>A c.4909G>A (p.Val1637Ile) | |
11 | g.121145963G>C | CA383022863 | TBCEL-TECTA,TECTA | c.3952G>C (p.Val1318Leu) c.1259G>C n.517G>C c.4909G>C (p.Val1637Leu) | |
11 | g.121145963G>T | CA383022864 | TBCEL-TECTA,TECTA | c.3952G>T (p.Val1318Phe) c.1259G>T n.517G>T c.4909G>T (p.Val1637Phe) | |
11 | g.121145964T>A | CA383022865 | TBCEL-TECTA,TECTA | c.3953T>A (p.Val1318Asp) c.1260T>A n.518T>A c.4910T>A (p.Val1637Asp) | |
11 | g.121145964T>C | CA383022866 | TBCEL-TECTA,TECTA | c.3953T>C (p.Val1318Ala) c.1260T>C n.518T>C c.4910T>C (p.Val1637Ala) | |
11 | g.121145964T>G | CA383022867 | TBCEL-TECTA,TECTA | c.3953T>G (p.Val1318Gly) c.1260T>G n.518T>G c.4910T>G (p.Val1637Gly) | COSMIC |
11 | g.121145965T>A | CA477383125 | TBCEL-TECTA,TECTA | c.3954T>A (p.Val1318=) c.1261T>A n.519T>A c.4911T>A (p.Val1637=) | |
11 | g.121145965T>C | CA477383123 | TBCEL-TECTA,TECTA | c.3954T>C (p.Val1318=) c.1261T>C n.519T>C c.4911T>C (p.Val1637=) | gnomAD v4 |
11 | g.121145965T>G | CA477383124 | TBCEL-TECTA,TECTA | c.3954T>G (p.Val1318=) c.1261T>G n.519T>G c.4911T>G (p.Val1637=) | |
11 | g.121145966A>C | CA383022868 | TBCEL-TECTA,TECTA | c.3955A>C (p.Asn1319His) c.1262A>C n.520A>C c.4912A>C (p.Asn1638His) | |
11 | g.121145966A>G | CA383022870 | TBCEL-TECTA,TECTA | c.3955A>G (p.Asn1319Asp) c.1262A>G n.520A>G c.4912A>G (p.Asn1638Asp) | |
11 | g.121145966A>T | CA383022869 | TBCEL-TECTA,TECTA | c.3955A>T (p.Asn1319Tyr) c.1262A>T n.520A>T c.4912A>T (p.Asn1638Tyr) | |
11 | g.121145967A>C | CA383022871 | TBCEL-TECTA,TECTA | c.3956A>C (p.Asn1319Thr) c.1263A>C n.521A>C c.4913A>C (p.Asn1638Thr) | |
11 | g.121145967A>G | CA383022872 | TBCEL-TECTA,TECTA | c.3956A>G (p.Asn1319Ser) c.1263A>G n.521A>G c.4913A>G (p.Asn1638Ser) | |
11 | g.121145967A>T | CA383022873 | TBCEL-TECTA,TECTA | c.3956A>T (p.Asn1319Ile) c.1263A>T n.521A>T c.4913A>T (p.Asn1638Ile) | |
11 | g.121145968C>A | CA383022874 | TBCEL-TECTA,TECTA | c.3957C>A (p.Asn1319Lys) c.1264C>A n.522C>A c.4914C>A (p.Asn1638Lys) | |
11 | g.121145968C= | CA2004737610 | TBCEL-TECTA,TECTA | c.3957C= (p.Asn1319=) c.1264C= n.522C= c.4914C= (p.Asn1638=) | |
11 | g.121145968C>G | CA229831711 | TBCEL-TECTA,TECTA | c.3957C>G (p.Asn1319Lys) c.1264C>G n.522C>G c.4914C>G (p.Asn1638Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145968C>T | CA477383128 | TBCEL-TECTA,TECTA | c.3957C>T (p.Asn1319=) c.1264C>T n.522C>T c.4914C>T (p.Asn1638=) | |
11 | g.121145969C>A | CA383022875 | TBCEL-TECTA,TECTA | c.3958C>A (p.Pro1320Thr) c.1265C>A n.523C>A c.4915C>A (p.Pro1639Thr) | |
11 | g.121145969C= | CA2004737611 | TBCEL-TECTA,TECTA | c.3958C= (p.Pro1320=) c.1265C= n.523C= c.4915C= (p.Pro1639=) | |
11 | g.121145969C>G | CA6327318 | TBCEL-TECTA,TECTA | c.3958C>G (p.Pro1320Ala) c.1265C>G n.523C>G c.4915C>G (p.Pro1639Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145969C>T | CA6327317 | TBCEL-TECTA,TECTA | c.3958C>T (p.Pro1320Ser) c.1265C>T n.523C>T c.4915C>T (p.Pro1639Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145970C>A | CA383022876 | TBCEL-TECTA,TECTA | c.3959C>A (p.Pro1320His) c.1266C>A n.524C>A c.4916C>A (p.Pro1639His) | |
11 | g.121145970C>G | CA383022877 | TBCEL-TECTA,TECTA | c.3959C>G (p.Pro1320Arg) c.1266C>G n.524C>G c.4916C>G (p.Pro1639Arg) | |
11 | g.121145970C>T | CA383022878 | TBCEL-TECTA,TECTA | c.3959C>T (p.Pro1320Leu) c.1266C>T n.524C>T c.4916C>T (p.Pro1639Leu) | COSMIC |
11 | g.121145971C>A | CA477383129 | TBCEL-TECTA,TECTA | c.3960C>A (p.Pro1320=) c.1267C>A n.525C>A c.4917C>A (p.Pro1639=) | |
11 | g.121145971C= | CA2004737612 | TBCEL-TECTA,TECTA | c.3960C= (p.Pro1320=) c.1267C= n.525C= c.4917C= (p.Pro1639=) | |
11 | g.121145971C>G | CA6327319 | TBCEL-TECTA,TECTA | c.3960C>G (p.Pro1320=) c.1267C>G n.525C>G c.4917C>G (p.Pro1639=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145971C>T | CA477383131 | TBCEL-TECTA,TECTA | c.3960C>T (p.Pro1320=) c.1267C>T n.525C>T c.4917C>T (p.Pro1639=) | |
11 | g.121145972del | CA2575008440 | TBCEL-TECTA,TECTA | c.3961del (p.Thr1321ProfsTer?) c.1268del n.526del c.4918del (p.Thr1640ProfsTer?) | |
11 | g.121145972A>C | CA383022881 | TBCEL-TECTA,TECTA | c.3961A>C (p.Thr1321Pro) c.1268A>C n.526A>C c.4918A>C (p.Thr1640Pro) | |
11 | g.121145972A>G | CA383022880 | TBCEL-TECTA,TECTA | c.3961A>G (p.Thr1321Ala) c.1268A>G n.526A>G c.4918A>G (p.Thr1640Ala) | |
11 | g.121145972A>T | CA383022879 | TBCEL-TECTA,TECTA | c.3961A>T (p.Thr1321Ser) c.1268A>T n.526A>T c.4918A>T (p.Thr1640Ser) | |
11 | g.121145973C>A | CA383022882 | TBCEL-TECTA,TECTA | c.3962C>A (p.Thr1321Asn) c.1269C>A n.527C>A c.4919C>A (p.Thr1640Asn) | |
11 | g.121145973C= | CA2004737613 | TBCEL-TECTA,TECTA | c.3962C= (p.Thr1321=) c.1269C= n.527C= c.4919C= (p.Thr1640=) | |
11 | g.121145973C>G | CA383022883 | TBCEL-TECTA,TECTA | c.3962C>G (p.Thr1321Ser) c.1269C>G n.527C>G c.4919C>G (p.Thr1640Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145973C>T | CA383022884 | TBCEL-TECTA,TECTA | c.3962C>T (p.Thr1321Ile) c.1269C>T n.527C>T c.4919C>T (p.Thr1640Ile) | dbSNP gnomAD v4 |
11 | g.121145974C>A | CA6327320 | TBCEL-TECTA,TECTA | c.3963C>A (p.Thr1321=) c.1270C>A n.528C>A c.4920C>A (p.Thr1640=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145974C= | CA2004737614 | TBCEL-TECTA,TECTA | c.3963C= (p.Thr1321=) c.1270C= n.528C= c.4920C= (p.Thr1640=) | |
11 | g.121145974C>G | CA477383132 | TBCEL-TECTA,TECTA | c.3963C>G (p.Thr1321=) c.1270C>G n.528C>G c.4920C>G (p.Thr1640=) | |
11 | g.121145974C>T | CA477383133 | TBCEL-TECTA,TECTA | c.3963C>T (p.Thr1321=) c.1270C>T n.528C>T c.4920C>T (p.Thr1640=) | |
11 | g.121145975T>A | CA383022885 | TBCEL-TECTA,TECTA | c.3964T>A (p.Phe1322Ile) c.1271T>A n.529T>A c.4921T>A (p.Phe1641Ile) | |
11 | g.121145975T>C | CA383022886 | TBCEL-TECTA,TECTA | c.3964T>C (p.Phe1322Leu) c.1271T>C n.529T>C c.4921T>C (p.Phe1641Leu) | |
11 | g.121145975T>G | CA383022887 | TBCEL-TECTA,TECTA | c.3964T>G (p.Phe1322Val) c.1271T>G n.529T>G c.4921T>G (p.Phe1641Val) | dbSNP |
11 | g.121145975T= | CA2004737615 | TBCEL-TECTA,TECTA | c.3964T= (p.Phe1322=) c.1271T= n.529T= c.4921T= (p.Phe1641=) | |
11 | g.121145976T>A | CA383022888 | TBCEL-TECTA,TECTA | c.3965T>A (p.Phe1322Tyr) c.1272T>A n.530T>A c.4922T>A (p.Phe1641Tyr) | |
11 | g.121145976T>C | CA383022889 | TBCEL-TECTA,TECTA | c.3965T>C (p.Phe1322Ser) c.1272T>C n.530T>C c.4922T>C (p.Phe1641Ser) | |
11 | g.121145976T>G | CA383022890 | TBCEL-TECTA,TECTA | c.3965T>G (p.Phe1322Cys) c.1272T>G n.530T>G c.4922T>G (p.Phe1641Cys) | |
11 | g.121145977C>A | CA383022891 | TBCEL-TECTA,TECTA | c.3966C>A (p.Phe1322Leu) c.1273C>A n.531C>A c.4923C>A (p.Phe1641Leu) | |
11 | g.121145977C>G | CA383022892 | TBCEL-TECTA,TECTA | c.3966C>G (p.Phe1322Leu) c.1273C>G n.531C>G c.4923C>G (p.Phe1641Leu) | |
11 | g.121145977C>T | CA477383134 | TBCEL-TECTA,TECTA | c.3966C>T (p.Phe1322=) c.1273C>T n.531C>T c.4923C>T (p.Phe1641=) | |
11 | g.121145978T>A | CA383022893 | TBCEL-TECTA,TECTA | c.3967T>A (p.Phe1323Ile) c.1274T>A n.532T>A c.4924T>A (p.Phe1642Ile) | |
11 | g.121145978T>C | CA383022895 | TBCEL-TECTA,TECTA | c.3967T>C (p.Phe1323Leu) c.1274T>C n.532T>C c.4924T>C (p.Phe1642Leu) | |
11 | g.121145978T>G | CA383022894 | TBCEL-TECTA,TECTA | c.3967T>G (p.Phe1323Val) c.1274T>G n.532T>G c.4924T>G (p.Phe1642Val) | |
11 | g.121145979T>A | CA383022896 | TBCEL-TECTA,TECTA | c.3968T>A (p.Phe1323Tyr) c.1275T>A n.533T>A c.4925T>A (p.Phe1642Tyr) | |
11 | g.121145979T>C | CA383022898 | TBCEL-TECTA,TECTA | c.3968T>C (p.Phe1323Ser) c.1275T>C n.533T>C c.4925T>C (p.Phe1642Ser) | |
11 | g.121145979T>G | CA383022897 | TBCEL-TECTA,TECTA | c.3968T>G (p.Phe1323Cys) c.1275T>G n.533T>G c.4925T>G (p.Phe1642Cys) | |
11 | g.121145980C>A | CA383022899 | TBCEL-TECTA,TECTA | c.3969C>A (p.Phe1323Leu) c.1276C>A n.534C>A c.4926C>A (p.Phe1642Leu) | |
11 | g.121145980C= | CA2004737616 | TBCEL-TECTA,TECTA | c.3969C= (p.Phe1323=) c.1276C= n.534C= c.4926C= (p.Phe1642=) | |
11 | g.121145980C>G | CA383022900 | TBCEL-TECTA,TECTA | c.3969C>G (p.Phe1323Leu) c.1276C>G n.534C>G c.4926C>G (p.Phe1642Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145980C>T | CA477383135 | TBCEL-TECTA,TECTA | c.3969C>T (p.Phe1323=) c.1276C>T n.534C>T c.4926C>T (p.Phe1642=) | dbSNP COSMIC |
11 | g.121145981T>A | CA383022901 | TBCEL-TECTA,TECTA | c.3970T>A (p.Tyr1324Asn) c.1277T>A n.535T>A c.4927T>A (p.Tyr1643Asn) | |
11 | g.121145981T>C | CA383022903 | TBCEL-TECTA,TECTA | c.3970T>C (p.Tyr1324His) c.1277T>C n.535T>C c.4927T>C (p.Tyr1643His) | |
11 | g.121145981T>G | CA383022902 | TBCEL-TECTA,TECTA | c.3970T>G (p.Tyr1324Asp) c.1277T>G n.535T>G c.4927T>G (p.Tyr1643Asp) | |
11 | g.121145981dup | CA2575008441 | TBCEL-TECTA,TECTA | c.3970dup (p.Tyr1324LeufsTer2) c.1277dup n.535dup c.4927dup (p.Tyr1643LeufsTer2) | |
11 | g.121145982A= | CA2004737617 | TBCEL-TECTA,TECTA | c.3971A= (p.Tyr1324=) c.1278A= n.536A= c.4928A= (p.Tyr1643=) | |
11 | g.121145982A>C | CA383022904 | TBCEL-TECTA,TECTA | c.3971A>C (p.Tyr1324Ser) c.1278A>C n.536A>C c.4928A>C (p.Tyr1643Ser) | gnomAD v4 |
11 | g.121145982A>G | CA6327321 | TBCEL-TECTA,TECTA | c.3971A>G (p.Tyr1324Cys) c.1278A>G n.536A>G c.4928A>G (p.Tyr1643Cys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.121145982A>T | CA383022905 | TBCEL-TECTA,TECTA | c.3971A>T (p.Tyr1324Phe) c.1278A>T n.536A>T c.4928A>T (p.Tyr1643Phe) | |
11 | g.121145983T>A | CA383022906 | TBCEL-TECTA,TECTA | c.3972T>A (p.Tyr1324Ter) c.1279T>A n.537T>A c.4929T>A (p.Tyr1643Ter) | |
11 | g.121145983T>C | CA477383136 | TBCEL-TECTA,TECTA | c.3972T>C (p.Tyr1324=) c.1279T>C n.537T>C c.4929T>C (p.Tyr1643=) | |
11 | g.121145983T>G | CA383022907 | TBCEL-TECTA,TECTA | c.3972T>G (p.Tyr1324Ter) c.1279T>G n.537T>G c.4929T>G (p.Tyr1643Ter) | |
11 | g.121145984A= | CA2004737618 | TBCEL-TECTA,TECTA | c.3973A= (p.Lys1325=) c.1280A= n.538A= c.4930A= (p.Lys1644=) | |
11 | g.121145984A>C | CA383022908 | TBCEL-TECTA,TECTA | c.3973A>C (p.Lys1325Gln) c.1280A>C n.538A>C c.4930A>C (p.Lys1644Gln) | |
11 | g.121145984A>G | CA383022909 | TBCEL-TECTA,TECTA | c.3973A>G (p.Lys1325Glu) c.1280A>G n.538A>G c.4930A>G (p.Lys1644Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145984A>T | CA383022910 | TBCEL-TECTA,TECTA | c.3973A>T (p.Lys1325Ter) c.1280A>T n.538A>T c.4930A>T (p.Lys1644Ter) | |
11 | g.121145985A>C | CA383022911 | TBCEL-TECTA,TECTA | c.3974A>C (p.Lys1325Thr) c.1281A>C n.539A>C c.4931A>C (p.Lys1644Thr) | |
11 | g.121145985A>G | CA383022912 | TBCEL-TECTA,TECTA | c.3974A>G (p.Lys1325Arg) c.1281A>G n.539A>G c.4931A>G (p.Lys1644Arg) | gnomAD v4 |
11 | g.121145985A>T | CA383022913 | TBCEL-TECTA,TECTA | c.3974A>T (p.Lys1325Met) c.1281A>T n.539A>T c.4931A>T (p.Lys1644Met) | |
11 | g.121145986G>A | CA6327322 | TBCEL-TECTA,TECTA | c.3975G>A (p.Lys1325=) c.1282G>A n.540G>A c.4932G>A (p.Lys1644=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145986G>C | CA383022915 | TBCEL-TECTA,TECTA | c.3975G>C (p.Lys1325Asn) c.1282G>C n.540G>C c.4932G>C (p.Lys1644Asn) | |
11 | g.121145986G= | CA2004737619 | TBCEL-TECTA,TECTA | c.3975G= (p.Lys1325=) c.1282G= n.540G= c.4932G= (p.Lys1644=) | |
11 | g.121145986G>T | CA383022914 | TBCEL-TECTA,TECTA | c.3975G>T (p.Lys1325Asn) c.1282G>T n.540G>T c.4932G>T (p.Lys1644Asn) | |
11 | g.121145987A>C | CA383022916 | TBCEL-TECTA,TECTA | c.3976A>C (p.Asn1326His) c.1283A>C n.541A>C c.4933A>C (p.Asn1645His) | |
11 | g.121145987A>G | CA383022917 | TBCEL-TECTA,TECTA | c.3976A>G (p.Asn1326Asp) c.1283A>G n.541A>G c.4933A>G (p.Asn1645Asp) | |
11 | g.121145987A>T | CA383022918 | TBCEL-TECTA,TECTA | c.3976A>T (p.Asn1326Tyr) c.1283A>T n.541A>T c.4933A>T (p.Asn1645Tyr) | |
11 | g.121145988A>C | CA383022919 | TBCEL-TECTA,TECTA | c.3977A>C (p.Asn1326Thr) c.1284A>C n.542A>C c.4934A>C (p.Asn1645Thr) | |
11 | g.121145988A>G | CA383022920 | TBCEL-TECTA,TECTA | c.3977A>G (p.Asn1326Ser) c.1284A>G n.542A>G c.4934A>G (p.Asn1645Ser) | |
11 | g.121145988A>T | CA383022921 | TBCEL-TECTA,TECTA | c.3977A>T (p.Asn1326Ile) c.1284A>T n.542A>T c.4934A>T (p.Asn1645Ile) | |
11 | g.121145989C>A | CA383022922 | TBCEL-TECTA,TECTA | c.3978C>A (p.Asn1326Lys) c.1285C>A n.543C>A c.4935C>A (p.Asn1645Lys) | |
11 | g.121145989C>G | CA383022923 | TBCEL-TECTA,TECTA | c.3978C>G (p.Asn1326Lys) c.1285C>G n.543C>G c.4935C>G (p.Asn1645Lys) | |
11 | g.121145989C>T | CA477383137 | TBCEL-TECTA,TECTA | c.3978C>T (p.Asn1326=) c.1285C>T n.543C>T c.4935C>T (p.Asn1645=) | gnomAD v4 |
11 | g.121145990T>A | CA383022924 | TBCEL-TECTA,TECTA | c.3979T>A (p.Cys1327Ser) c.1286T>A n.544T>A c.4936T>A (p.Cys1646Ser) | |
11 | g.121145990T>C | CA383022925 | TBCEL-TECTA,TECTA | c.3979T>C (p.Cys1327Arg) c.1286T>C n.544T>C c.4936T>C (p.Cys1646Arg) | |
11 | g.121145990T>G | CA383022926 | TBCEL-TECTA,TECTA | c.3979T>G (p.Cys1327Gly) c.1286T>G n.544T>G c.4936T>G (p.Cys1646Gly) | |
11 | g.121145991G>A | CA383022929 | TBCEL-TECTA,TECTA | c.3980G>A (p.Cys1327Tyr) c.1287G>A n.545G>A c.4937G>A (p.Cys1646Tyr) | |
11 | g.121145991G>C | CA383022928 | TBCEL-TECTA,TECTA | c.3980G>C (p.Cys1327Ser) c.1287G>C n.545G>C c.4937G>C (p.Cys1646Ser) | |
11 | g.121145991G= | CA2004737620 | TBCEL-TECTA,TECTA | c.3980G= (p.Cys1327=) c.1287G= n.545G= c.4937G= (p.Cys1646=) | |
11 | g.121145991G>T | CA383022927 | TBCEL-TECTA,TECTA | c.3980G>T (p.Cys1327Phe) c.1287G>T n.545G>T c.4937G>T (p.Cys1646Phe) | dbSNP |
11 | g.121145992C>A | CA383022930 | TBCEL-TECTA,TECTA | c.3981C>A (p.Cys1327Ter) c.1288C>A n.546C>A c.4938C>A (p.Cys1646Ter) | |
11 | g.121145992C>G | CA383022931 | TBCEL-TECTA,TECTA | c.3981C>G (p.Cys1327Trp) c.1288C>G n.546C>G c.4938C>G (p.Cys1646Trp) | |
11 | g.121145992C>T | CA477383138 | TBCEL-TECTA,TECTA | c.3981C>T (p.Cys1327=) c.1288C>T n.546C>T c.4938C>T (p.Cys1646=) | COSMIC |
11 | g.121145993C>A | CA383022932 | TBCEL-TECTA,TECTA | c.3982C>A (p.Leu1328Met) c.1289C>A n.547C>A c.4939C>A (p.Leu1647Met) | |
11 | g.121145993C>G | CA383022933 | TBCEL-TECTA,TECTA | c.3982C>G (p.Leu1328Val) c.1289C>G n.547C>G c.4939C>G (p.Leu1647Val) | |
11 | g.121145993C>T | CA477383139 | TBCEL-TECTA,TECTA | c.3982C>T (p.Leu1328=) c.1289C>T n.547C>T c.4939C>T (p.Leu1647=) | |
11 | g.121145994T>A | CA383022934 | TBCEL-TECTA,TECTA | c.3983T>A (p.Leu1328Gln) c.1290T>A n.548T>A c.4940T>A (p.Leu1647Gln) | |
11 | g.121145994T>C | CA383022935 | TBCEL-TECTA,TECTA | c.3983T>C (p.Leu1328Pro) c.1290T>C n.548T>C c.4940T>C (p.Leu1647Pro) | |
11 | g.121145994T>G | CA383022936 | TBCEL-TECTA,TECTA | c.3983T>G (p.Leu1328Arg) c.1290T>G n.548T>G c.4940T>G (p.Leu1647Arg) | |
11 | g.121145995G>A | CA477383140 | TBCEL-TECTA,TECTA | c.3984G>A (p.Leu1328=) c.1291G>A n.549G>A c.4941G>A (p.Leu1647=) | |
11 | g.121145995G>C | CA477383141 | TBCEL-TECTA,TECTA | c.3984G>C (p.Leu1328=) c.1291G>C n.549G>C c.4941G>C (p.Leu1647=) | |
11 | g.121145995G>T | CA477383142 | TBCEL-TECTA,TECTA | c.3984G>T (p.Leu1328=) c.1291G>T n.549G>T c.4941G>T (p.Leu1647=) | |
11 | g.121145996T>A | CA383022937 | TBCEL-TECTA,TECTA | c.3985T>A (p.Phe1329Ile) c.1292T>A n.550T>A c.4942T>A (p.Phe1648Ile) | |
11 | g.121145996T>C | CA383022938 | TBCEL-TECTA,TECTA | c.3985T>C (p.Phe1329Leu) c.1292T>C n.550T>C c.4942T>C (p.Phe1648Leu) | |
11 | g.121145996T>G | CA383022939 | TBCEL-TECTA,TECTA | c.3985T>G (p.Phe1329Val) c.1292T>G n.550T>G c.4942T>G (p.Phe1648Val) | |
11 | g.121145997T>A | CA383022940 | TBCEL-TECTA,TECTA | c.3986T>A (p.Phe1329Tyr) c.1293T>A n.551T>A c.4943T>A (p.Phe1648Tyr) | |
11 | g.121145997T>C | CA383022941 | TBCEL-TECTA,TECTA | c.3986T>C (p.Phe1329Ser) c.1293T>C n.551T>C c.4943T>C (p.Phe1648Ser) | |
11 | g.121145997T>G | CA383022942 | TBCEL-TECTA,TECTA | c.3986T>G (p.Phe1329Cys) c.1293T>G n.551T>G c.4943T>G (p.Phe1648Cys) | |
11 | g.121145998T>A | CA383022943 | TBCEL-TECTA,TECTA | c.3987T>A (p.Phe1329Leu) c.1294T>A n.552T>A c.4944T>A (p.Phe1648Leu) | |
11 | g.121145998T>C | CA477383143 | TBCEL-TECTA,TECTA | c.3987T>C (p.Phe1329=) c.1294T>C n.552T>C c.4944T>C (p.Phe1648=) | |
11 | g.121145998T>G | CA383022944 | TBCEL-TECTA,TECTA | c.3987T>G (p.Phe1329Leu) c.1294T>G n.552T>G c.4944T>G (p.Phe1648Leu) | |
11 | g.121145999G>A | CA383022945 | TBCEL-TECTA,TECTA | c.3988G>A (p.Asp1330Asn) c.1295G>A n.553G>A c.4945G>A (p.Asp1649Asn) | |
11 | g.121145999G>C | CA383022946 | TBCEL-TECTA,TECTA | c.3988G>C (p.Asp1330His) c.1295G>C n.553G>C c.4945G>C (p.Asp1649His) | |
11 | g.121145999G>T | CA383022947 | TBCEL-TECTA,TECTA | c.3988G>T (p.Asp1330Tyr) c.1295G>T n.553G>T c.4945G>T (p.Asp1649Tyr) | COSMIC |
11 | g.121146000A= | CA2004737621 | TBCEL-TECTA,TECTA | c.3989A= (p.Asp1330=) c.1296A= n.554A= c.4946A= (p.Asp1649=) | |
11 | g.121146000A>C | CA383022948 | TBCEL-TECTA,TECTA | c.3989A>C (p.Asp1330Ala) c.1296A>C n.554A>C c.4946A>C (p.Asp1649Ala) | dbSNP |
11 | g.121146000A>G | CA383022949 | TBCEL-TECTA,TECTA | c.3989A>G (p.Asp1330Gly) c.1296A>G n.554A>G c.4946A>G (p.Asp1649Gly) | |
11 | g.121146000A>T | CA6327323 | TBCEL-TECTA,TECTA | c.3989A>T (p.Asp1330Val) c.1296A>T n.554A>T c.4946A>T (p.Asp1649Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121146001C>A | CA383022950 | TBCEL-TECTA,TECTA | c.3990C>A (p.Asp1330Glu) c.1297C>A n.555C>A c.4947C>A (p.Asp1649Glu) | |
11 | g.121146001C>G | CA383022951 | TBCEL-TECTA,TECTA | c.3990C>G (p.Asp1330Glu) c.1297C>G n.555C>G c.4947C>G (p.Asp1649Glu) | |
11 | g.121146001C>T | CA477383144 | TBCEL-TECTA,TECTA | c.3990C>T (p.Asp1330=) c.1297C>T n.555C>T c.4947C>T (p.Asp1649=) | |
11 | g.121146002T>A | CA383022952 | TBCEL-TECTA,TECTA | c.3991T>A (p.Ser1331Thr) c.1298T>A n.556T>A c.4948T>A (p.Ser1650Thr) | |
11 | g.121146002T>C | CA383022953 | TBCEL-TECTA,TECTA | c.3991T>C (p.Ser1331Pro) c.1298T>C n.556T>C c.4948T>C (p.Ser1650Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121146002T>G | CA383022954 | TBCEL-TECTA,TECTA | c.3991T>G (p.Ser1331Ala) c.1298T>G n.556T>G c.4948T>G (p.Ser1650Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121146002T= | CA2004737622 | TBCEL-TECTA,TECTA | c.3991T= (p.Ser1331=) c.1298T= n.556T= c.4948T= (p.Ser1650=) | |
11 | g.121146003C>A | CA383022957 | TBCEL-TECTA,TECTA | c.3992C>A (p.Ser1331Tyr) c.1299C>A n.557C>A c.4949C>A (p.Ser1650Tyr) | |
11 | g.121146003C>G | CA383022956 | TBCEL-TECTA,TECTA | c.3992C>G (p.Ser1331Cys) c.1299C>G n.557C>G c.4949C>G (p.Ser1650Cys) | |
11 | g.121146003C>T | CA383022955 | TBCEL-TECTA,TECTA | c.3992C>T (p.Ser1331Phe) c.1299C>T n.557C>T c.4949C>T (p.Ser1650Phe) | COSMIC |
11 | g.121146004T>A | CA477383147 | TBCEL-TECTA,TECTA | c.3993T>A (p.Ser1331=) c.1300T>A n.558T>A c.4950T>A (p.Ser1650=) | |
11 | g.121146004T>C | CA477383145 | TBCEL-TECTA,TECTA | c.3993T>C (p.Ser1331=) c.1300T>C n.558T>C c.4950T>C (p.Ser1650=) | |
11 | g.121146004T>G | CA477383146 | TBCEL-TECTA,TECTA | c.3993T>G (p.Ser1331=) c.1300T>G n.558T>G c.4950T>G (p.Ser1650=) | |
11 | g.121146005T>A | CA383022958 | TBCEL-TECTA,TECTA | c.3994T>A (p.Cys1332Ser) c.1301T>A n.559T>A c.4951T>A (p.Cys1651Ser) | |
11 | g.121146005T>C | CA383022960 | TBCEL-TECTA,TECTA | c.3994T>C (p.Cys1332Arg) c.1301T>C n.559T>C c.4951T>C (p.Cys1651Arg) | gnomAD v4 |
11 | g.121146005T>G | CA383022959 | TBCEL-TECTA,TECTA | c.3994T>G (p.Cys1332Gly) c.1301T>G n.559T>G c.4951T>G (p.Cys1651Gly) | |
11 | g.121146006G>A | CA383022961 | TBCEL-TECTA,TECTA | c.3995G>A (p.Cys1332Tyr) c.1302G>A n.560G>A c.4952G>A (p.Cys1651Tyr) | ClinVar |
11 | g.121146006G>C | CA383022962 | TBCEL-TECTA,TECTA | c.3995G>C (p.Cys1332Ser) c.1302G>C n.560G>C c.4952G>C (p.Cys1651Ser) | |
11 | g.121146006G>T | CA383022963 | TBCEL-TECTA,TECTA | c.3995G>T (p.Cys1332Phe) c.1302G>T n.560G>T c.4952G>T (p.Cys1651Phe) | |
11 | g.121146007C>A | CA383022964 | TBCEL-TECTA,TECTA | c.3996C>A (p.Cys1332Ter) c.1303C>A n.561C>A c.4953C>A (p.Cys1651Ter) | |
11 | g.121146007C>G | CA383022965 | TBCEL-TECTA,TECTA | c.3996C>G (p.Cys1332Trp) c.1303C>G n.561C>G c.4953C>G (p.Cys1651Trp) | |
11 | g.121146007C>T | CA477383148 | TBCEL-TECTA,TECTA | c.3996C>T (p.Cys1332=) c.1303C>T n.561C>T c.4953C>T (p.Cys1651=) | |
11 | g.121146008A= | CA2004737623 | TBCEL-TECTA,TECTA | c.3997A= (p.Ile1333=) c.1304A= n.562A= c.4954A= (p.Ile1652=) | |
11 | g.121146008A>C | CA383022966 | TBCEL-TECTA,TECTA | c.3997A>C (p.Ile1333Leu) c.1304A>C n.562A>C c.4954A>C (p.Ile1652Leu) | |
11 | g.121146008A>G | CA229831782 | TBCEL-TECTA,TECTA | c.3997A>G (p.Ile1333Val) c.1304A>G n.562A>G c.4954A>G (p.Ile1652Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.121146008A>T | CA383022967 | TBCEL-TECTA,TECTA | c.3997A>T (p.Ile1333Phe) c.1304A>T n.562A>T c.4954A>T (p.Ile1652Phe) | gnomAD v4 |
11 | g.121146009T>A | CA383022968 | TBCEL-TECTA,TECTA | c.3998T>A (p.Ile1333Asn) c.1305T>A n.563T>A c.4955T>A (p.Ile1652Asn) | gnomAD v4 |
11 | g.121146009T>C | CA383022969 | TBCEL-TECTA,TECTA | c.3998T>C (p.Ile1333Thr) c.1305T>C n.563T>C c.4955T>C (p.Ile1652Thr) | dbSNP gnomAD v4 |
11 | g.121146009T>G | CA383022970 | TBCEL-TECTA,TECTA | c.3998T>G (p.Ile1333Ser) c.1305T>G n.563T>G c.4955T>G (p.Ile1652Ser) | |
11 | g.121146009T= | CA2004737624 | TBCEL-TECTA,TECTA | c.3998T= (p.Ile1333=) c.1305T= n.563T= c.4955T= (p.Ile1652=) | |
11 | g.121146010C>A | CA477383149 | TBCEL-TECTA,TECTA | c.3999C>A (p.Ile1333=) c.1306C>A n.564C>A c.4956C>A (p.Ile1652=) | |
11 | g.121146010C= | CA2004737625 | TBCEL-TECTA,TECTA | c.3999C= (p.Ile1333=) c.1306C= n.564C= c.4956C= (p.Ile1652=) | |
11 | g.121146010C>G | CA383022971 | TBCEL-TECTA,TECTA | c.3999C>G (p.Ile1333Met) c.1306C>G n.564C>G c.4956C>G (p.Ile1652Met) | |
11 | g.121146010C>T | CA6327324 | TBCEL-TECTA,TECTA | c.3999C>T (p.Ile1333=) c.1306C>T n.564C>T c.4956C>T (p.Ile1652=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146011G>A | CA6327325 | TBCEL-TECTA,TECTA | c.4000G>A (p.Asp1334Asn) c.1307G>A n.565G>A c.4957G>A (p.Asp1653Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146011G>C | CA383022972 | TBCEL-TECTA,TECTA | c.4000G>C (p.Asp1334His) c.1307G>C n.565G>C c.4957G>C (p.Asp1653His) | |
11 | g.121146011G= | CA2004737626 | TBCEL-TECTA,TECTA | c.4000G= (p.Asp1334=) c.1307G= n.565G= c.4957G= (p.Asp1653=) | |
11 | g.121146011G>T | CA383022973 | TBCEL-TECTA,TECTA | c.4000G>T (p.Asp1334Tyr) c.1307G>T n.565G>T c.4957G>T (p.Asp1653Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121146012A>C | CA383022974 | TBCEL-TECTA,TECTA | c.4001A>C (p.Asp1334Ala) c.1308A>C n.566A>C c.4958A>C (p.Asp1653Ala) | |
11 | g.121146012A>G | CA383022975 | TBCEL-TECTA,TECTA | c.4001A>G (p.Asp1334Gly) c.1308A>G n.566A>G c.4958A>G (p.Asp1653Gly) | |
11 | g.121146012A>T | CA383022976 | TBCEL-TECTA,TECTA | c.4001A>T (p.Asp1334Val) c.1308A>T n.566A>T c.4958A>T (p.Asp1653Val) | |
11 | g.121146013T>A | CA383022977 | TBCEL-TECTA,TECTA | c.4002T>A (p.Asp1334Glu) c.1309T>A n.567T>A c.4959T>A (p.Asp1653Glu) | |
11 | g.121146013T>C | CA477383150 | TBCEL-TECTA,TECTA | c.4002T>C (p.Asp1334=) c.1309T>C n.567T>C c.4959T>C (p.Asp1653=) | |
11 | g.121146013T>G | CA383022978 | TBCEL-TECTA,TECTA | c.4002T>G (p.Asp1334Glu) c.1309T>G n.567T>G c.4959T>G (p.Asp1653Glu) | |
11 | g.121146014G>A | CA383022979 | TBCEL-TECTA,TECTA | c.4003G>A (p.Gly1335Arg) c.1310G>A n.568G>A c.4960G>A (p.Gly1654Arg) | |
11 | g.121146014G>C | CA383022980 | TBCEL-TECTA,TECTA | c.4003G>C (p.Gly1335Arg) c.1310G>C n.568G>C c.4960G>C (p.Gly1654Arg) | |
11 | g.121146014G>T | CA383022981 | TBCEL-TECTA,TECTA | c.4003G>T (p.Gly1335Trp) c.1310G>T n.568G>T c.4960G>T (p.Gly1654Trp) | |
11 | g.121146018del | CA2741214633 | TBCEL-TECTA,TECTA | c.4007del (p.Gly1336AlafsTer24) c.1314del n.572del c.4964del (p.Gly1655AlafsTer24) | |
11 | g.121146015G>A | CA6327326 | TBCEL-TECTA,TECTA | c.4004G>A (p.Gly1335Glu) c.1311G>A n.569G>A c.4961G>A (p.Gly1654Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146015G>C | CA383022983 | TBCEL-TECTA,TECTA | c.4004G>C (p.Gly1335Ala) c.1311G>C n.569G>C c.4961G>C (p.Gly1654Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146015G= | CA2004737627 | TBCEL-TECTA,TECTA | c.4004G= (p.Gly1335=) c.1311G= n.569G= c.4961G= (p.Gly1654=) | |
11 | g.121146015G>T | CA383022982 | TBCEL-TECTA,TECTA | c.4004G>T (p.Gly1335Val) c.1311G>T n.569G>T c.4961G>T (p.Gly1654Val) | |
11 | g.121146016G>A | CA477383151 | TBCEL-TECTA,TECTA | c.4005G>A (p.Gly1335=) c.1312G>A n.570G>A c.4962G>A (p.Gly1654=) | |
11 | g.121146016G>C | CA477383152 | TBCEL-TECTA,TECTA | c.4005G>C (p.Gly1335=) c.1312G>C n.570G>C c.4962G>C (p.Gly1654=) | |
11 | g.121146016G= | CA2004737628 | TBCEL-TECTA,TECTA | c.4005G= (p.Gly1335=) c.1312G= n.570G= c.4962G= (p.Gly1654=) | |
11 | g.121146016G>T | CA477383153 | TBCEL-TECTA,TECTA | c.4005G>T (p.Gly1335=) c.1312G>T n.570G>T c.4962G>T (p.Gly1654=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121146017G>A | CA383022984 | TBCEL-TECTA,TECTA | c.4006G>A (p.Gly1336Ser) c.1313G>A n.571G>A c.4963G>A (p.Gly1655Ser) | gnomAD v4 |
11 | g.121146017G>C | CA383022985 | TBCEL-TECTA,TECTA | c.4006G>C (p.Gly1336Arg) c.1313G>C n.571G>C c.4963G>C (p.Gly1655Arg) | |
11 | g.121146017G>T | CA383022986 | TBCEL-TECTA,TECTA | c.4006G>T (p.Gly1336Cys) c.1313G>T n.571G>T c.4963G>T (p.Gly1655Cys) | gnomAD v4 |
11 | g.121146018G>A | CA6327327 | TBCEL-TECTA,TECTA | c.4007G>A (p.Gly1336Asp) c.1314G>A n.572G>A c.4964G>A (p.Gly1655Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146018G>C | CA383022987 | TBCEL-TECTA,TECTA | c.4007G>C (p.Gly1336Ala) c.1314G>C n.572G>C c.4964G>C (p.Gly1655Ala) | |
11 | g.121146018G= | CA2004737629 | TBCEL-TECTA,TECTA | c.4007G= (p.Gly1336=) c.1314G= n.572G= c.4964G= (p.Gly1655=) | |
11 | g.121146018G>T | CA383022988 | TBCEL-TECTA,TECTA | c.4007G>T (p.Gly1336Val) c.1314G>T n.572G>T c.4964G>T (p.Gly1655Val) | |
11 | g.121146019C>A | CA477383154 | TBCEL-TECTA,TECTA | c.4008C>A (p.Gly1336=) c.1315C>A n.573C>A c.4965C>A (p.Gly1655=) | gnomAD v4 |
11 | g.121146019C= | CA2004737630 | TBCEL-TECTA,TECTA | c.4008C= (p.Gly1336=) c.1315C= n.573C= c.4965C= (p.Gly1655=) | |
11 | g.121146019C>G | CA477383155 | TBCEL-TECTA,TECTA | c.4008C>G (p.Gly1336=) c.1315C>G n.573C>G c.4965C>G (p.Gly1655=) | |
11 | g.121146019C>T | CA6327328 | TBCEL-TECTA,TECTA | c.4008C>T (p.Gly1336=) c.1315C>T n.573C>T c.4965C>T (p.Gly1655=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.121146020G>A | CA6327329 | TBCEL-TECTA,TECTA | c.4009G>A (p.Ala1337Thr) c.1316G>A n.574G>A c.4966G>A (p.Ala1656Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146020G>C | CA383022990 | TBCEL-TECTA,TECTA | c.4009G>C (p.Ala1337Pro) c.1316G>C n.574G>C c.4966G>C (p.Ala1656Pro) | |
11 | g.121146020G= | CA2004737631 | TBCEL-TECTA,TECTA | c.4009G= (p.Ala1337=) c.1316G= n.574G= c.4966G= (p.Ala1656=) | |
11 | g.121146020G>T | CA383022989 | TBCEL-TECTA,TECTA | c.4009G>T (p.Ala1337Ser) c.1316G>T n.574G>T c.4966G>T (p.Ala1656Ser) | gnomAD v4 |
11 | g.121146021C>A | CA383022991 | TBCEL-TECTA,TECTA | c.4010C>A (p.Ala1337Glu) c.1317C>A n.575C>A c.4967C>A (p.Ala1656Glu) | gnomAD v4 |
11 | g.121146021C= | CA2004737632 | TBCEL-TECTA,TECTA | c.4010C= (p.Ala1337=) c.1317C= n.575C= c.4967C= (p.Ala1656=) | |
11 | g.121146021C>G | CA383022992 | TBCEL-TECTA,TECTA | c.4010C>G (p.Ala1337Gly) c.1317C>G n.575C>G c.4967C>G (p.Ala1656Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.121146021C>T | CA6327330 | TBCEL-TECTA,TECTA | c.4010C>T (p.Ala1337Val) c.1317C>T n.575C>T c.4967C>T (p.Ala1656Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.121146022G>A | CA136044 | TBCEL-TECTA,TECTA | c.4011G>A (p.Ala1337=) c.1318G>A n.576G>A c.4968G>A (p.Ala1656=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146022G>C | CA477383156 | TBCEL-TECTA,TECTA | c.4011G>C (p.Ala1337=) c.1318G>C n.576G>C c.4968G>C (p.Ala1656=) | dbSNP |
11 | g.121146022G= | CA2004737633 | TBCEL-TECTA,TECTA | c.4011G= (p.Ala1337=) c.1318G= n.576G= c.4968G= (p.Ala1656=) | |
11 | g.121146022G>T | CA477383157 | TBCEL-TECTA,TECTA | c.4011G>T (p.Ala1337=) c.1318G>T n.576G>T c.4968G>T (p.Ala1656=) | gnomAD v4 |
11 | g.121146023G>A | CA383022993 | TBCEL-TECTA,TECTA | c.4012G>A (p.Val1338Met) c.1319G>A n.577G>A c.4969G>A (p.Val1657Met) | |
11 | g.121146023G>C | CA383022995 | TBCEL-TECTA,TECTA | c.4012G>C (p.Val1338Leu) c.1319G>C n.577G>C c.4969G>C (p.Val1657Leu) | |
11 | g.121146023G>T | CA383022994 | TBCEL-TECTA,TECTA | c.4012G>T (p.Val1338Leu) c.1319G>T n.577G>T c.4969G>T (p.Val1657Leu) | gnomAD v4 |
11 | g.121146024T>A | CA6327331 | TBCEL-TECTA,TECTA | c.4013T>A (p.Val1338Glu) c.1320T>A n.578T>A c.4970T>A (p.Val1657Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121146024T>C | CA383022996 | TBCEL-TECTA,TECTA | c.4013T>C (p.Val1338Ala) c.1320T>C n.578T>C c.4970T>C (p.Val1657Ala) | gnomAD v4 |
11 | g.121146024T>G | CA6327332 | TBCEL-TECTA,TECTA | c.4013T>G (p.Val1338Gly) c.1320T>G n.578T>G c.4970T>G (p.Val1657Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121146024T= | CA2004737634 | TBCEL-TECTA,TECTA | c.4013T= (p.Val1338=) c.1320T= n.578T= c.4970T= (p.Val1657=) | |
11 | g.121146025G>A | CA6327333 | TBCEL-TECTA,TECTA | c.4014G>A (p.Val1338=) c.1321G>A n.579G>A c.4971G>A (p.Val1657=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146025G>C | CA477383158 | TBCEL-TECTA,TECTA | c.4014G>C (p.Val1338=) c.1321G>C n.579G>C c.4971G>C (p.Val1657=) | |
11 | g.121146025G= | CA2004737635 | TBCEL-TECTA,TECTA | c.4014G= (p.Val1338=) c.1321G= n.579G= c.4971G= (p.Val1657=) | |
11 | g.121146025G>T | CA477383159 | TBCEL-TECTA,TECTA | c.4014G>T (p.Val1338=) c.1321G>T n.579G>T c.4971G>T (p.Val1657=) | |
11 | g.121146026C>A | CA383022997 | TBCEL-TECTA,TECTA | c.4015C>A (p.Gln1339Lys) c.1322C>A n.580C>A c.4972C>A (p.Gln1658Lys) | |
11 | g.121146026C>G | CA383022998 | TBCEL-TECTA,TECTA | c.4015C>G (p.Gln1339Glu) c.1322C>G n.580C>G c.4972C>G (p.Gln1658Glu) | gnomAD v4 |
11 | g.121146026C>T | CA383022999 | TBCEL-TECTA,TECTA | c.4015C>T (p.Gln1339Ter) c.1322C>T n.580C>T c.4972C>T (p.Gln1658Ter) | |
11 | g.121146027A>C | CA383023000 | TBCEL-TECTA,TECTA | c.4016A>C (p.Gln1339Pro) c.1323A>C n.581A>C c.4973A>C (p.Gln1658Pro) | gnomAD v4 |
11 | g.121146027A>G | CA383023001 | TBCEL-TECTA,TECTA | c.4016A>G (p.Gln1339Arg) c.1323A>G n.581A>G c.4973A>G (p.Gln1658Arg) | gnomAD v4 |
11 | g.121146027A>T | CA383023002 | TBCEL-TECTA,TECTA | c.4016A>T (p.Gln1339Leu) c.1323A>T n.581A>T c.4973A>T (p.Gln1658Leu) | |
11 | g.121146028G>A | CA477383160 | TBCEL-TECTA,TECTA | c.4017G>A (p.Gln1339=) c.1324G>A n.582G>A c.4974G>A (p.Gln1658=) | |
11 | g.121146028G>C | CA383023003 | TBCEL-TECTA,TECTA | c.4017G>C (p.Gln1339His) c.1324G>C n.582G>C c.4974G>C (p.Gln1658His) | |
11 | g.121146028G>T | CA383023004 | TBCEL-TECTA,TECTA | c.4017G>T (p.Gln1339His) c.1324G>T n.582G>T c.4974G>T (p.Gln1658His) | |
11 | g.121146029A= | CA2004737636 | TBCEL-TECTA,TECTA | c.4018A= (p.Thr1340=) c.1325A= n.583A= c.4975A= (p.Thr1659=) | |
11 | g.121146029A>C | CA383023006 | TBCEL-TECTA,TECTA | c.4018A>C (p.Thr1340Pro) c.1325A>C n.583A>C c.4975A>C (p.Thr1659Pro) | dbSNP |
11 | g.121146029A>G | CA383023007 | TBCEL-TECTA,TECTA | c.4018A>G (p.Thr1340Ala) c.1325A>G n.583A>G c.4975A>G (p.Thr1659Ala) | |
11 | g.121146029A>T | CA383023005 | TBCEL-TECTA,TECTA | c.4018A>T (p.Thr1340Ser) c.1325A>T n.583A>T c.4975A>T (p.Thr1659Ser) | |
11 | g.121146030C>A | CA6327334 | TBCEL-TECTA,TECTA | c.4019C>A (p.Thr1340Asn) c.1326C>A n.584C>A c.4976C>A (p.Thr1659Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121146030C= | CA2004737637 | TBCEL-TECTA,TECTA | c.4019C= (p.Thr1340=) c.1326C= n.584C= c.4976C= (p.Thr1659=) | |
11 | g.121146030C>G | CA383023008 | TBCEL-TECTA,TECTA | c.4019C>G (p.Thr1340Ser) c.1326C>G n.584C>G c.4976C>G (p.Thr1659Ser) | |
11 | g.121146030C>T | CA383023009 | TBCEL-TECTA,TECTA | c.4019C>T (p.Thr1340Ile) c.1326C>T n.584C>T c.4976C>T (p.Thr1659Ile) | |
11 | g.121146031C>A | CA477383166 | TBCEL-TECTA,TECTA | c.4020C>A (p.Thr1340=) c.1327C>A n.585C>A c.4977C>A (p.Thr1659=) | |
11 | g.121146031C= | CA2004737638 | TBCEL-TECTA,TECTA | c.4020C= (p.Thr1340=) c.1327C= n.585C= c.4977C= (p.Thr1659=) | |
11 | g.121146031C>G | CA477383164 | TBCEL-TECTA,TECTA | c.4020C>G (p.Thr1340=) c.1327C>G n.585C>G c.4977C>G (p.Thr1659=) | gnomAD v4 |
11 | g.121146031C>T | CA6327335 | TBCEL-TECTA,TECTA | c.4020C>T (p.Thr1340=) c.1327C>T n.585C>T c.4977C>T (p.Thr1659=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121146032G>A | CA6327336 | TBCEL-TECTA,TECTA | c.4021G>A (p.Ala1341Thr) c.1328G>A n.586G>A c.4978G>A (p.Ala1660Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.121146032G>C | CA383023010 | TBCEL-TECTA,TECTA | c.4021G>C (p.Ala1341Pro) c.1328G>C n.586G>C c.4978G>C (p.Ala1660Pro) | |
11 | g.121146032G= | CA2004737639 | TBCEL-TECTA,TECTA | c.4021G= (p.Ala1341=) c.1328G= n.586G= c.4978G= (p.Ala1660=) | |
11 | g.121146032G>T | CA6327337 | TBCEL-TECTA,TECTA | c.4021G>T (p.Ala1341Ser) c.1328G>T n.586G>T c.4978G>T (p.Ala1660Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121146033C>A | CA383023011 | TBCEL-TECTA,TECTA | c.4022C>A (p.Ala1341Asp) c.1329C>A n.587C>A c.4979C>A (p.Ala1660Asp) | |
11 | g.121146033C>G | CA383023012 | TBCEL-TECTA,TECTA | c.4022C>G (p.Ala1341Gly) c.1329C>G n.587C>G c.4979C>G (p.Ala1660Gly) | |
11 | g.121146033C>T | CA383023013 | TBCEL-TECTA,TECTA | c.4022C>T (p.Ala1341Val) c.1329C>T n.587C>T c.4979C>T (p.Ala1660Val) | |
11 | g.121146034C>A | CA477383171 | TBCEL-TECTA,TECTA | c.4023C>A (p.Ala1341=) c.1330C>A n.588C>A c.4980C>A (p.Ala1660=) | |
11 | g.121146034C>G | CA477383172 | TBCEL-TECTA,TECTA | c.4023C>G (p.Ala1341=) c.1330C>G n.588C>G c.4980C>G (p.Ala1660=) | |
11 | g.121146034C>T | CA477383173 | TBCEL-TECTA,TECTA | c.4023C>T (p.Ala1341=) c.1330C>T n.588C>T c.4980C>T (p.Ala1660=) | |
11 | g.121146035T>A | CA383023014 | TBCEL-TECTA,TECTA | c.4024T>A (p.Cys1342Ser) c.1331T>A n.589T>A c.4981T>A (p.Cys1661Ser) | gnomAD v4 |
11 | g.121146035T>C | CA383023015 | TBCEL-TECTA,TECTA | c.4024T>C (p.Cys1342Arg) c.1331T>C n.589T>C c.4981T>C (p.Cys1661Arg) | |
11 | g.121146035T>G | CA383023016 | TBCEL-TECTA,TECTA | c.4024T>G (p.Cys1342Gly) c.1331T>G n.589T>G c.4981T>G (p.Cys1661Gly) | |
11 | g.121146036G>A | CA383023019 | TBCEL-TECTA,TECTA | c.4025G>A (p.Cys1342Tyr) c.1332G>A n.590G>A c.4982G>A (p.Cys1661Tyr) | |
11 | g.121146036G>C | CA383023018 | TBCEL-TECTA,TECTA | c.4025G>C (p.Cys1342Ser) c.1332G>C n.590G>C c.4982G>C (p.Cys1661Ser) | |
11 | g.121146036G>T | CA383023017 | TBCEL-TECTA,TECTA | c.4025G>T (p.Cys1342Phe) c.1332G>T n.590G>T c.4982G>T (p.Cys1661Phe) | |
11 | g.121146037C>A | CA383023020 | TBCEL-TECTA,TECTA | c.4026C>A (p.Cys1342Ter) c.1333C>A n.591C>A c.4983C>A (p.Cys1661Ter) | |
11 | g.121146037C>G | CA383023021 | TBCEL-TECTA,TECTA | c.4026C>G (p.Cys1342Trp) c.1333C>G n.591C>G c.4983C>G (p.Cys1661Trp) | |
11 | g.121146037C>T | CA477383180 | TBCEL-TECTA,TECTA | c.4026C>T (p.Cys1342=) c.1333C>T n.591C>T c.4983C>T (p.Cys1661=) | |
11 | g.121146038A>C | CA383023022 | TBCEL-TECTA,TECTA | c.4027A>C (p.Ser1343Arg) c.1334A>C n.592A>C c.4984A>C (p.Ser1662Arg) | |
11 | g.121146038A>G | CA383023023 | TBCEL-TECTA,TECTA | c.4027A>G (p.Ser1343Gly) c.1334A>G n.592A>G c.4984A>G (p.Ser1662Gly) | |
11 | g.121146038A>T | CA383023024 | TBCEL-TECTA,TECTA | c.4027A>T (p.Ser1343Cys) c.1334A>T n.592A>T c.4984A>T (p.Ser1662Cys) | |
11 | g.121146039G>A | CA383023025 | TBCEL-TECTA,TECTA | c.4028G>A (p.Ser1343Asn) c.1335G>A n.593G>A c.4985G>A (p.Ser1662Asn) | |
11 | g.121146039G>C | CA383023026 | TBCEL-TECTA,TECTA | c.4028G>C (p.Ser1343Thr) c.1335G>C n.593G>C c.4985G>C (p.Ser1662Thr) | |
11 | g.121146039G>T | CA383023027 | TBCEL-TECTA,TECTA | c.4028G>T (p.Ser1343Ile) c.1335G>T n.593G>T c.4985G>T (p.Ser1662Ile) | gnomAD v4 |
11 | g.121146040C>A | CA383023028 | TBCEL-TECTA,TECTA | c.4029C>A (p.Ser1343Arg) c.1336C>A n.594C>A c.4986C>A (p.Ser1662Arg) | |
11 | g.121146040C>G | CA383023029 | TBCEL-TECTA,TECTA | c.4029C>G (p.Ser1343Arg) c.1336C>G n.594C>G c.4986C>G (p.Ser1662Arg) | |
11 | g.121146040C>T | CA477383181 | TBCEL-TECTA,TECTA | c.4029C>T (p.Ser1343=) c.1336C>T n.594C>T c.4986C>T (p.Ser1662=) | gnomAD v4 |
11 | g.121146041T>A | CA383023030 | TBCEL-TECTA,TECTA | c.4030T>A (p.Trp1344Arg) c.1337T>A n.595T>A c.4987T>A (p.Trp1663Arg) | |
11 | g.121146041T>C | CA383023031 | TBCEL-TECTA,TECTA | c.4030T>C (p.Trp1344Arg) c.1337T>C n.595T>C c.4987T>C (p.Trp1663Arg) | |
11 | g.121146041T>G | CA383023032 | TBCEL-TECTA,TECTA | c.4030T>G (p.Trp1344Gly) c.1337T>G n.595T>G c.4987T>G (p.Trp1663Gly) | |
11 | g.121146042G>A | CA383023035 | TBCEL-TECTA,TECTA | c.4031G>A (p.Trp1344Ter) c.1338G>A n.596G>A c.4988G>A (p.Trp1663Ter) | gnomAD v4 |
11 | g.121146042G>C | CA383023034 | TBCEL-TECTA,TECTA | c.4031G>C (p.Trp1344Ser) c.1338G>C n.596G>C c.4988G>C (p.Trp1663Ser) | |
11 | g.121146042G>T | CA383023033 | TBCEL-TECTA,TECTA | c.4031G>T (p.Trp1344Leu) c.1338G>T n.596G>T c.4988G>T (p.Trp1663Leu) | |
11 | g.121146043G>A | CA383023038 | TBCEL-TECTA,TECTA | c.4032G>A (p.Trp1344Ter) c.1339G>A n.597G>A c.4989G>A (p.Trp1663Ter) | |
11 | g.121146043G>C | CA383023036 | TBCEL-TECTA,TECTA | c.4032G>C (p.Trp1344Cys) c.1339G>C n.597G>C c.4989G>C (p.Trp1663Cys) | |
11 | g.121146043G>T | CA383023037 | TBCEL-TECTA,TECTA | c.4032G>T (p.Trp1344Cys) c.1339G>T n.597G>T c.4989G>T (p.Trp1663Cys) | gnomAD v4 |
11 | g.121146044C>A | CA383023039 | TBCEL-TECTA,TECTA | c.4033C>A (p.Leu1345Met) c.1340C>A n.598C>A c.4990C>A (p.Leu1664Met) | |
11 | g.121146044C>G | CA383023040 | TBCEL-TECTA,TECTA | c.4033C>G (p.Leu1345Val) c.1340C>G n.598C>G c.4990C>G (p.Leu1664Val) | |
11 | g.121146044C>T | CA477383185 | TBCEL-TECTA,TECTA | c.4033C>T (p.Leu1345=) c.1340C>T n.598C>T c.4990C>T (p.Leu1664=) | |
11 | g.121146045T>A | CA383023041 | TBCEL-TECTA,TECTA | c.4034T>A (p.Leu1345Gln) c.1341T>A n.599T>A c.4991T>A (p.Leu1664Gln) | |
11 | g.121146045T>C | CA383023042 | TBCEL-TECTA,TECTA | c.4034T>C (p.Leu1345Pro) c.1341T>C n.599T>C c.4991T>C (p.Leu1664Pro) | |
11 | g.121146045T>G | CA383023043 | TBCEL-TECTA,TECTA | c.4034T>G (p.Leu1345Arg) c.1341T>G n.599T>G c.4991T>G (p.Leu1664Arg) | |
11 | g.121146046G>A | CA477383188 | TBCEL-TECTA,TECTA | c.4035G>A (p.Leu1345=) c.1342G>A n.600G>A c.4992G>A (p.Leu1664=) | |
11 | g.121146046G>C | CA477383189 | TBCEL-TECTA,TECTA | c.4035G>C (p.Leu1345=) c.1342G>C n.600G>C c.4992G>C (p.Leu1664=) | |
11 | g.121146046G>T | CA477383190 | TBCEL-TECTA,TECTA | c.4035G>T (p.Leu1345=) c.1342G>T n.600G>T c.4992G>T (p.Leu1664=) | |
11 | g.121146047C>A | CA383023044 | TBCEL-TECTA,TECTA | c.4036C>A (p.Gln1346Lys) c.1343C>A n.601C>A c.4993C>A (p.Gln1665Lys) | gnomAD v4 |
11 | g.121146047C>G | CA383023045 | TBCEL-TECTA,TECTA | c.4036C>G (p.Gln1346Glu) c.1343C>G n.601C>G c.4993C>G (p.Gln1665Glu) | |
11 | g.121146047C>T | CA383023046 | TBCEL-TECTA,TECTA | c.4036C>T (p.Gln1346Ter) c.1343C>T n.601C>T c.4993C>T (p.Gln1665Ter) | |
11 | g.121146048A>C | CA383023047 | TBCEL-TECTA,TECTA | c.4037A>C (p.Gln1346Pro) c.1344A>C n.602A>C c.4994A>C (p.Gln1665Pro) | |
11 | g.121146048A>G | CA383023048 | TBCEL-TECTA,TECTA | c.4037A>G (p.Gln1346Arg) c.1344A>G n.602A>G c.4994A>G (p.Gln1665Arg) | |
11 | g.121146048A>T | CA383023049 | TBCEL-TECTA,TECTA | c.4037A>T (p.Gln1346Leu) c.1344A>T n.602A>T c.4994A>T (p.Gln1665Leu) | |
11 | g.121146049G>A | CA477383192 | TBCEL-TECTA,TECTA | c.4038G>A (p.Gln1346=) c.1345G>A n.603G>A c.4995G>A (p.Gln1665=) | |
11 | g.121146049G>C | CA383023051 | TBCEL-TECTA,TECTA | c.4038G>C (p.Gln1346His) c.1345G>C n.603G>C c.4995G>C (p.Gln1665His) | |
11 | g.121146049G>T | CA383023050 | TBCEL-TECTA,TECTA | c.4038G>T (p.Gln1346His) c.1345G>T n.603G>T c.4995G>T (p.Gln1665His) |