Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121145754del | CA477382851 | TBCEL-TECTA,TECTA | c.3743del (p.Pro1248LeufsTer24) c.1050del n.308del c.4700del (p.Pro1567LeufsTer24) | dbSNP gnomAD v4 |
11 | g.121145754C>A | CA383022144 | TBCEL-TECTA,TECTA | c.3743C>A (p.Pro1248His) c.1050C>A n.308C>A c.4700C>A (p.Pro1567His) | |
11 | g.121145754C= | CA2004737528 | TBCEL-TECTA,TECTA | c.3743C= (p.Pro1248=) c.1050C= n.308C= c.4700C= (p.Pro1567=) | |
11 | g.121145754C>G | CA383022146 | TBCEL-TECTA,TECTA | c.3743C>G (p.Pro1248Arg) c.1050C>G n.308C>G c.4700C>G (p.Pro1567Arg) | |
11 | g.121145754C>T | CA6327285 | TBCEL-TECTA,TECTA | c.3743C>T (p.Pro1248Leu) c.1050C>T n.308C>T c.4700C>T (p.Pro1567Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145755T>A | CA477382852 | TBCEL-TECTA,TECTA | c.3744T>A (p.Pro1248=) c.1051T>A n.309T>A c.4701T>A (p.Pro1567=) | |
11 | g.121145755T>C | CA477382853 | TBCEL-TECTA,TECTA | c.3744T>C (p.Pro1248=) c.1051T>C n.309T>C c.4701T>C (p.Pro1567=) | |
11 | g.121145755T>G | CA477382854 | TBCEL-TECTA,TECTA | c.3744T>G (p.Pro1248=) c.1051T>G n.309T>G c.4701T>G (p.Pro1567=) | |
11 | g.121145756G>A | CA383022152 | TBCEL-TECTA,TECTA | c.3745G>A (p.Asp1249Asn) c.1052G>A n.310G>A c.4702G>A (p.Asp1568Asn) | gnomAD v4 |
11 | g.121145756G>C | CA383022155 | TBCEL-TECTA,TECTA | c.3745G>C (p.Asp1249His) c.1052G>C n.310G>C c.4702G>C (p.Asp1568His) | |
11 | g.121145756G>T | CA383022156 | TBCEL-TECTA,TECTA | c.3745G>T (p.Asp1249Tyr) c.1052G>T n.310G>T c.4702G>T (p.Asp1568Tyr) | |
11 | g.121145757A>C | CA383022163 | TBCEL-TECTA,TECTA | c.3746A>C (p.Asp1249Ala) c.1053A>C n.311A>C c.4703A>C (p.Asp1568Ala) | |
11 | g.121145757A>G | CA383022165 | TBCEL-TECTA,TECTA | c.3746A>G (p.Asp1249Gly) c.1053A>G n.311A>G c.4703A>G (p.Asp1568Gly) | |
11 | g.121145757A>T | CA383022160 | TBCEL-TECTA,TECTA | c.3746A>T (p.Asp1249Val) c.1053A>T n.311A>T c.4703A>T (p.Asp1568Val) | gnomAD v4 |
11 | g.121145758T>A | CA383022169 | TBCEL-TECTA,TECTA | c.3747T>A (p.Asp1249Glu) c.1054T>A n.312T>A c.4704T>A (p.Asp1568Glu) | |
11 | g.121145758T>C | CA477382855 | TBCEL-TECTA,TECTA | c.3747T>C (p.Asp1249=) c.1054T>C n.312T>C c.4704T>C (p.Asp1568=) | gnomAD v4 |
11 | g.121145758T>G | CA383022171 | TBCEL-TECTA,TECTA | c.3747T>G (p.Asp1249Glu) c.1054T>G n.312T>G c.4704T>G (p.Asp1568Glu) | |
11 | g.121145759G>A | CA383022176 | TBCEL-TECTA,TECTA | c.3748G>A (p.Asp1250Asn) c.1055G>A n.313G>A c.4705G>A (p.Asp1569Asn) | |
11 | g.121145759G>C | CA6327286 | TBCEL-TECTA,TECTA | c.3748G>C (p.Asp1250His) c.1055G>C n.313G>C c.4705G>C (p.Asp1569His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145759G= | CA2004737529 | TBCEL-TECTA,TECTA | c.3748G= (p.Asp1250=) c.1055G= n.313G= c.4705G= (p.Asp1569=) | |
11 | g.121145759G>T | CA383022179 | TBCEL-TECTA,TECTA | c.3748G>T (p.Asp1250Tyr) c.1055G>T n.313G>T c.4705G>T (p.Asp1569Tyr) | gnomAD v4 |
11 | g.121145760A>C | CA383022188 | TBCEL-TECTA,TECTA | c.3749A>C (p.Asp1250Ala) c.1056A>C n.314A>C c.4706A>C (p.Asp1569Ala) | |
11 | g.121145760A>G | CA383022185 | TBCEL-TECTA,TECTA | c.3749A>G (p.Asp1250Gly) c.1056A>G n.314A>G c.4706A>G (p.Asp1569Gly) | |
11 | g.121145760A>T | CA383022183 | TBCEL-TECTA,TECTA | c.3749A>T (p.Asp1250Val) c.1056A>T n.314A>T c.4706A>T (p.Asp1569Val) | |
11 | g.121145761T>A | CA383022189 | TBCEL-TECTA,TECTA | c.3750T>A (p.Asp1250Glu) c.1057T>A n.315T>A c.4707T>A (p.Asp1569Glu) | gnomAD v4 |
11 | g.121145761T>C | CA6327287 | TBCEL-TECTA,TECTA | c.3750T>C (p.Asp1250=) c.1057T>C n.315T>C c.4707T>C (p.Asp1569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145761T>G | CA383022190 | TBCEL-TECTA,TECTA | c.3750T>G (p.Asp1250Glu) c.1057T>G n.315T>G c.4707T>G (p.Asp1569Glu) | |
11 | g.121145761T= | CA2004737530 | TBCEL-TECTA,TECTA | c.3750T= (p.Asp1250=) c.1057T= n.315T= c.4707T= (p.Asp1569=) | |
11 | g.121145762G>A | CA383022191 | TBCEL-TECTA,TECTA | c.3751G>A (p.Asp1251Asn) c.1058G>A n.316G>A c.4708G>A (p.Asp1570Asn) | |
11 | g.121145762G>C | CA383022192 | TBCEL-TECTA,TECTA | c.3751G>C (p.Asp1251His) c.1058G>C n.316G>C c.4708G>C (p.Asp1570His) | |
11 | g.121145762G>T | CA383022193 | TBCEL-TECTA,TECTA | c.3751G>T (p.Asp1251Tyr) c.1058G>T n.316G>T c.4708G>T (p.Asp1570Tyr) | |
11 | g.121145763A>C | CA383022195 | TBCEL-TECTA,TECTA | c.3752A>C (p.Asp1251Ala) c.1059A>C n.317A>C c.4709A>C (p.Asp1570Ala) | |
11 | g.121145763A>G | CA383022202 | TBCEL-TECTA,TECTA | c.3752A>G (p.Asp1251Gly) c.1059A>G n.317A>G c.4709A>G (p.Asp1570Gly) | COSMIC |
11 | g.121145763A>T | CA383022197 | TBCEL-TECTA,TECTA | c.3752A>T (p.Asp1251Val) c.1059A>T n.317A>T c.4709A>T (p.Asp1570Val) | gnomAD v4 |
11 | g.121145764C>A | CA383022205 | TBCEL-TECTA,TECTA | c.3753C>A (p.Asp1251Glu) c.1060C>A n.318C>A c.4710C>A (p.Asp1570Glu) | |
11 | g.121145764C= | CA2004737531 | TBCEL-TECTA,TECTA | c.3753C= (p.Asp1251=) c.1060C= n.318C= c.4710C= (p.Asp1570=) | |
11 | g.121145764C>G | CA383022208 | TBCEL-TECTA,TECTA | c.3753C>G (p.Asp1251Glu) c.1060C>G n.318C>G c.4710C>G (p.Asp1570Glu) | |
11 | g.121145764C>T | CA477382856 | TBCEL-TECTA,TECTA | c.3753C>T (p.Asp1251=) c.1060C>T n.318C>T c.4710C>T (p.Asp1570=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145765C>A | CA383022211 | TBCEL-TECTA,TECTA | c.3754C>A (p.Leu1252Met) c.1061C>A n.319C>A c.4711C>A (p.Leu1571Met) | |
11 | g.121145765C>G | CA383022212 | TBCEL-TECTA,TECTA | c.3754C>G (p.Leu1252Val) c.1061C>G n.319C>G c.4711C>G (p.Leu1571Val) | |
11 | g.121145765C>T | CA477382857 | TBCEL-TECTA,TECTA | c.3754C>T (p.Leu1252=) c.1061C>T n.319C>T c.4711C>T (p.Leu1571=) | |
11 | g.121145766T>A | CA383022213 | TBCEL-TECTA,TECTA | c.3755T>A (p.Leu1252Gln) c.1062T>A n.320T>A c.4712T>A (p.Leu1571Gln) | gnomAD v4 |
11 | g.121145766T>C | CA383022214 | TBCEL-TECTA,TECTA | c.3755T>C (p.Leu1252Pro) c.1062T>C n.320T>C c.4712T>C (p.Leu1571Pro) | gnomAD v4 |
11 | g.121145766T>G | CA383022215 | TBCEL-TECTA,TECTA | c.3755T>G (p.Leu1252Arg) c.1062T>G n.320T>G c.4712T>G (p.Leu1571Arg) | |
11 | g.121145767G>A | CA477382858 | TBCEL-TECTA,TECTA | c.3756G>A (p.Leu1252=) c.1063G>A n.321G>A c.4713G>A (p.Leu1571=) | |
11 | g.121145767G>C | CA477382859 | TBCEL-TECTA,TECTA | c.3756G>C (p.Leu1252=) c.1063G>C n.321G>C c.4713G>C (p.Leu1571=) | |
11 | g.121145767G>T | CA477382860 | TBCEL-TECTA,TECTA | c.3756G>T (p.Leu1252=) c.1063G>T n.321G>T c.4713G>T (p.Leu1571=) | |
11 | g.121145768G>A | CA383022216 | TBCEL-TECTA,TECTA | c.3757G>A (p.Glu1253Lys) c.1064G>A n.322G>A c.4714G>A (p.Glu1572Lys) | |
11 | g.121145768G>C | CA383022218 | TBCEL-TECTA,TECTA | c.3757G>C (p.Glu1253Gln) c.1064G>C n.322G>C c.4714G>C (p.Glu1572Gln) | COSMIC |
11 | g.121145768G>T | CA383022221 | TBCEL-TECTA,TECTA | c.3757G>T (p.Glu1253Ter) c.1064G>T n.322G>T c.4714G>T (p.Glu1572Ter) | |
11 | g.121145769A>C | CA383022234 | TBCEL-TECTA,TECTA | c.3758A>C (p.Glu1253Ala) c.1065A>C n.323A>C c.4715A>C (p.Glu1572Ala) | |
11 | g.121145769A>G | CA383022230 | TBCEL-TECTA,TECTA | c.3758A>G (p.Glu1253Gly) c.1065A>G n.323A>G c.4715A>G (p.Glu1572Gly) | |
11 | g.121145769A>T | CA383022228 | TBCEL-TECTA,TECTA | c.3758A>T (p.Glu1253Val) c.1065A>T n.323A>T c.4715A>T (p.Glu1572Val) | |
11 | g.121145770G>A | CA477382861 | TBCEL-TECTA,TECTA | c.3759G>A (p.Glu1253=) c.1066G>A n.324G>A c.4716G>A (p.Glu1572=) | |
11 | g.121145770G>C | CA383022237 | TBCEL-TECTA,TECTA | c.3759G>C (p.Glu1253Asp) c.1066G>C n.324G>C c.4716G>C (p.Glu1572Asp) | |
11 | g.121145770G>T | CA383022240 | TBCEL-TECTA,TECTA | c.3759G>T (p.Glu1253Asp) c.1066G>T n.324G>T c.4716G>T (p.Glu1572Asp) | COSMIC |
11 | g.121145771A= | CA2004737532 | TBCEL-TECTA,TECTA | c.3760A= (p.Met1254=) c.1067A= n.325A= c.4717A= (p.Met1573=) | |
11 | g.121145771A>C | CA383022246 | TBCEL-TECTA,TECTA | c.3760A>C (p.Met1254Leu) c.1067A>C n.325A>C c.4717A>C (p.Met1573Leu) | gnomAD v4 |
11 | g.121145771A>G | CA10637529 | TBCEL-TECTA,TECTA | c.3760A>G (p.Met1254Val) c.1067A>G n.325A>G c.4717A>G (p.Met1573Val) | ClinVar dbSNP |
11 | g.121145771A>T | CA383022248 | TBCEL-TECTA,TECTA | c.3760A>T (p.Met1254Leu) c.1067A>T n.325A>T c.4717A>T (p.Met1573Leu) | |
11 | g.121145772T>A | CA383022252 | TBCEL-TECTA,TECTA | c.3761T>A (p.Met1254Lys) c.1068T>A n.326T>A c.4718T>A (p.Met1573Lys) | |
11 | g.121145772T>C | CA383022254 | TBCEL-TECTA,TECTA | c.3761T>C (p.Met1254Thr) c.1068T>C n.326T>C c.4718T>C (p.Met1573Thr) | gnomAD v4 |
11 | g.121145772T>G | CA383022257 | TBCEL-TECTA,TECTA | c.3761T>G (p.Met1254Arg) c.1068T>G n.326T>G c.4718T>G (p.Met1573Arg) | |
11 | g.121145773G>A | CA10638056 | TBCEL-TECTA,TECTA | c.3762G>A (p.Met1254Ile) c.1069G>A n.327G>A c.4719G>A (p.Met1573Ile) | ClinVar dbSNP |
11 | g.121145773G>C | CA383022264 | TBCEL-TECTA,TECTA | c.3762G>C (p.Met1254Ile) c.1069G>C n.327G>C c.4719G>C (p.Met1573Ile) | |
11 | g.121145773G= | CA2004737533 | TBCEL-TECTA,TECTA | c.3762G= (p.Met1254=) c.1069G= n.327G= c.4719G= (p.Met1573=) | |
11 | g.121145773G>T | CA383022271 | TBCEL-TECTA,TECTA | c.3762G>T (p.Met1254Ile) c.1069G>T n.327G>T c.4719G>T (p.Met1573Ile) | |
11 | g.121145774C>A | CA383022273 | TBCEL-TECTA,TECTA | c.3763C>A (p.Pro1255Thr) c.1070C>A n.328C>A c.4720C>A (p.Pro1574Thr) | |
11 | g.121145774C= | CA2004737534 | TBCEL-TECTA,TECTA | c.3763C= (p.Pro1255=) c.1070C= n.328C= c.4720C= (p.Pro1574=) | |
11 | g.121145774C>G | CA383022275 | TBCEL-TECTA,TECTA | c.3763C>G (p.Pro1255Ala) c.1070C>G n.328C>G c.4720C>G (p.Pro1574Ala) | |
11 | g.121145774C>T | CA383022277 | TBCEL-TECTA,TECTA | c.3763C>T (p.Pro1255Ser) c.1070C>T n.328C>T c.4720C>T (p.Pro1574Ser) | dbSNP gnomAD v2 |
11 | g.121145775C>A | CA383022280 | TBCEL-TECTA,TECTA | c.3764C>A (p.Pro1255His) c.1071C>A n.329C>A c.4721C>A (p.Pro1574His) | |
11 | g.121145775C>G | CA383022283 | TBCEL-TECTA,TECTA | c.3764C>G (p.Pro1255Arg) c.1071C>G n.329C>G c.4721C>G (p.Pro1574Arg) | |
11 | g.121145775C>T | CA383022287 | TBCEL-TECTA,TECTA | c.3764C>T (p.Pro1255Leu) c.1071C>T n.329C>T c.4721C>T (p.Pro1574Leu) | gnomAD v4 |
11 | g.121145776C>A | CA477382862 | TBCEL-TECTA,TECTA | c.3765C>A (p.Pro1255=) c.1072C>A n.330C>A c.4722C>A (p.Pro1574=) | |
11 | g.121145776C>G | CA477382863 | TBCEL-TECTA,TECTA | c.3765C>G (p.Pro1255=) c.1072C>G n.330C>G c.4722C>G (p.Pro1574=) | |
11 | g.121145776C>T | CA477382864 | TBCEL-TECTA,TECTA | c.3765C>T (p.Pro1255=) c.1072C>T n.330C>T c.4722C>T (p.Pro1574=) | |
11 | g.121145777A= | CA2004737535 | TBCEL-TECTA,TECTA | c.3766A= (p.Met1256=) c.1073A= n.331A= c.4723A= (p.Met1575=) | |
11 | g.121145777A>C | CA383022295 | TBCEL-TECTA,TECTA | c.3766A>C (p.Met1256Leu) c.1073A>C n.331A>C c.4723A>C (p.Met1575Leu) | |
11 | g.121145777A>G | CA229831455 | TBCEL-TECTA,TECTA | c.3766A>G (p.Met1256Val) c.1073A>G n.331A>G c.4723A>G (p.Met1575Val) | dbSNP gnomAD v4 |
11 | g.121145777A>T | CA383022293 | TBCEL-TECTA,TECTA | c.3766A>T (p.Met1256Leu) c.1073A>T n.331A>T c.4723A>T (p.Met1575Leu) | |
11 | g.121145778T>A | CA383022297 | TBCEL-TECTA,TECTA | c.3767T>A (p.Met1256Lys) c.1074T>A n.332T>A c.4724T>A (p.Met1575Lys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145778T>C | CA383022298 | TBCEL-TECTA,TECTA | c.3767T>C (p.Met1256Thr) c.1074T>C n.332T>C c.4724T>C (p.Met1575Thr) | |
11 | g.121145778T>G | CA383022301 | TBCEL-TECTA,TECTA | c.3767T>G (p.Met1256Arg) c.1074T>G n.332T>G c.4724T>G (p.Met1575Arg) | |
11 | g.121145778T= | CA2004737536 | TBCEL-TECTA,TECTA | c.3767T= (p.Met1256=) c.1074T= n.332T= c.4724T= (p.Met1575=) | |
11 | g.121145779G>A | CA383022304 | TBCEL-TECTA,TECTA | c.3768G>A (p.Met1256Ile) c.1075G>A n.333G>A c.4725G>A (p.Met1575Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145779G>C | CA383022305 | TBCEL-TECTA,TECTA | c.3768G>C (p.Met1256Ile) c.1075G>C n.333G>C c.4725G>C (p.Met1575Ile) | |
11 | g.121145779G= | CA2004737537 | TBCEL-TECTA,TECTA | c.3768G= (p.Met1256=) c.1075G= n.333G= c.4725G= (p.Met1575=) | |
11 | g.121145779G>T | CA383022306 | TBCEL-TECTA,TECTA | c.3768G>T (p.Met1256Ile) c.1075G>T n.333G>T c.4725G>T (p.Met1575Ile) | |
11 | g.121145780G>A | CA183103 | TBCEL-TECTA,TECTA | c.3769G>A (p.Gly1257Ser) c.1076G>A n.334G>A c.4726G>A (p.Gly1576Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145780G>C | CA383022309 | TBCEL-TECTA,TECTA | c.3769G>C (p.Gly1257Arg) c.1076G>C n.334G>C c.4726G>C (p.Gly1576Arg) | |
11 | g.121145780G= | CA2004737538 | TBCEL-TECTA,TECTA | c.3769G= (p.Gly1257=) c.1076G= n.334G= c.4726G= (p.Gly1576=) | |
11 | g.121145780G>T | CA383022312 | TBCEL-TECTA,TECTA | c.3769G>T (p.Gly1257Cys) c.1076G>T n.334G>T c.4726G>T (p.Gly1576Cys) | |
11 | g.121145781G>A | CA383022316 | TBCEL-TECTA,TECTA | c.3770G>A (p.Gly1257Asp) c.1077G>A n.335G>A c.4727G>A (p.Gly1576Asp) | |
11 | g.121145781G>C | CA383022319 | TBCEL-TECTA,TECTA | c.3770G>C (p.Gly1257Ala) c.1077G>C n.335G>C c.4727G>C (p.Gly1576Ala) | |
11 | g.121145781G>T | CA383022323 | TBCEL-TECTA,TECTA | c.3770G>T (p.Gly1257Val) c.1077G>T n.335G>T c.4727G>T (p.Gly1576Val) | |
11 | g.121145782T>A | CA477382867 | TBCEL-TECTA,TECTA | c.3771T>A (p.Gly1257=) c.1078T>A n.336T>A c.4728T>A (p.Gly1576=) | |
11 | g.121145782T>C | CA477382865 | TBCEL-TECTA,TECTA | c.3771T>C (p.Gly1257=) c.1078T>C n.336T>C c.4728T>C (p.Gly1576=) | gnomAD v4 |
11 | g.121145782T>G | CA477382866 | TBCEL-TECTA,TECTA | c.3771T>G (p.Gly1257=) c.1078T>G n.336T>G c.4728T>G (p.Gly1576=) | |
11 | g.121145783C>A | CA383022325 | TBCEL-TECTA,TECTA | c.3772C>A (p.Leu1258Met) c.1079C>A n.337C>A c.4729C>A (p.Leu1577Met) | |
11 | g.121145783C>G | CA383022324 | TBCEL-TECTA,TECTA | c.3772C>G (p.Leu1258Val) c.1079C>G n.337C>G c.4729C>G (p.Leu1577Val) | |
11 | g.121145783C>T | CA477382868 | TBCEL-TECTA,TECTA | c.3772C>T (p.Leu1258=) c.1079C>T n.337C>T c.4729C>T (p.Leu1577=) | |
11 | g.121145784T>A | CA383022326 | TBCEL-TECTA,TECTA | c.3773T>A (p.Leu1258Gln) c.1080T>A n.338T>A c.4730T>A (p.Leu1577Gln) | ClinVar gnomAD v4 |
11 | g.121145784T>C | CA383022328 | TBCEL-TECTA,TECTA | c.3773T>C (p.Leu1258Pro) c.1080T>C n.338T>C c.4730T>C (p.Leu1577Pro) | |
11 | g.121145784T>G | CA383022330 | TBCEL-TECTA,TECTA | c.3773T>G (p.Leu1258Arg) c.1080T>G n.338T>G c.4730T>G (p.Leu1577Arg) | |
11 | g.121145785G>A | CA477382869 | TBCEL-TECTA,TECTA | c.3774G>A (p.Leu1258=) c.1081G>A n.339G>A c.4731G>A (p.Leu1577=) | |
11 | g.121145785G>C | CA477382870 | TBCEL-TECTA,TECTA | c.3774G>C (p.Leu1258=) c.1081G>C n.339G>C c.4731G>C (p.Leu1577=) | |
11 | g.121145785G>T | CA477382871 | TBCEL-TECTA,TECTA | c.3774G>T (p.Leu1258=) c.1081G>T n.339G>T c.4731G>T (p.Leu1577=) | COSMIC |
11 | g.121145786C>A | CA383022333 | TBCEL-TECTA,TECTA | c.3775C>A (p.Leu1259Ile) c.1082C>A n.340C>A c.4732C>A (p.Leu1578Ile) | |
11 | g.121145786C>G | CA383022335 | TBCEL-TECTA,TECTA | c.3775C>G (p.Leu1259Val) c.1082C>G n.340C>G c.4732C>G (p.Leu1578Val) | |
11 | g.121145786C>T | CA383022339 | TBCEL-TECTA,TECTA | c.3775C>T (p.Leu1259Phe) c.1082C>T n.340C>T c.4732C>T (p.Leu1578Phe) | |
11 | g.121145787T>A | CA383022343 | TBCEL-TECTA,TECTA | c.3776T>A (p.Leu1259His) c.1083T>A n.341T>A c.4733T>A (p.Leu1578His) | |
11 | g.121145787T>C | CA6327288 | TBCEL-TECTA,TECTA | c.3776T>C (p.Leu1259Pro) c.1083T>C n.341T>C c.4733T>C (p.Leu1578Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145787T>G | CA383022341 | TBCEL-TECTA,TECTA | c.3776T>G (p.Leu1259Arg) c.1083T>G n.341T>G c.4733T>G (p.Leu1578Arg) | |
11 | g.121145787T= | CA2004737539 | TBCEL-TECTA,TECTA | c.3776T= (p.Leu1259=) c.1083T= n.341T= c.4733T= (p.Leu1578=) | |
11 | g.121145788T>A | CA477382872 | TBCEL-TECTA,TECTA | c.3777T>A (p.Leu1259=) c.1084T>A n.342T>A c.4734T>A (p.Leu1578=) | |
11 | g.121145788T>C | CA477382873 | TBCEL-TECTA,TECTA | c.3777T>C (p.Leu1259=) c.1084T>C n.342T>C c.4734T>C (p.Leu1578=) | |
11 | g.121145788T>G | CA477382874 | TBCEL-TECTA,TECTA | c.3777T>G (p.Leu1259=) c.1084T>G n.342T>G c.4734T>G (p.Leu1578=) | |
11 | g.121145789G>A | CA6327289 | TBCEL-TECTA,TECTA | c.3778G>A (p.Ala1260Thr) c.1085G>A n.343G>A c.4735G>A (p.Ala1579Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145789G>C | CA383022358 | TBCEL-TECTA,TECTA | c.3778G>C (p.Ala1260Pro) c.1085G>C n.343G>C c.4735G>C (p.Ala1579Pro) | dbSNP |
11 | g.121145789G= | CA2004737540 | TBCEL-TECTA,TECTA | c.3778G= (p.Ala1260=) c.1085G= n.343G= c.4735G= (p.Ala1579=) | |
11 | g.121145789G>T | CA383022363 | TBCEL-TECTA,TECTA | c.3778G>T (p.Ala1260Ser) c.1085G>T n.343G>T c.4735G>T (p.Ala1579Ser) | gnomAD v4 |
11 | g.121145790C>A | CA383022368 | TBCEL-TECTA,TECTA | c.3779C>A (p.Ala1260Glu) c.1086C>A n.344C>A c.4736C>A (p.Ala1579Glu) | |
11 | g.121145790C>G | CA383022372 | TBCEL-TECTA,TECTA | c.3779C>G (p.Ala1260Gly) c.1086C>G n.344C>G c.4736C>G (p.Ala1579Gly) | |
11 | g.121145790C>T | CA383022374 | TBCEL-TECTA,TECTA | c.3779C>T (p.Ala1260Val) c.1086C>T n.344C>T c.4736C>T (p.Ala1579Val) | |
11 | g.121145791A= | CA2004737541 | TBCEL-TECTA,TECTA | c.3780A= (p.Ala1260=) c.1087A= n.345A= c.4737A= (p.Ala1579=) | |
11 | g.121145791A>C | CA477382877 | TBCEL-TECTA,TECTA | c.3780A>C (p.Ala1260=) c.1087A>C n.345A>C c.4737A>C (p.Ala1579=) | |
11 | g.121145791A>G | CA477382876 | TBCEL-TECTA,TECTA | c.3780A>G (p.Ala1260=) c.1087A>G n.345A>G c.4737A>G (p.Ala1579=) | gnomAD v4 |
11 | g.121145791A>T | CA477382875 | TBCEL-TECTA,TECTA | c.3780A>T (p.Ala1260=) c.1087A>T n.345A>T c.4737A>T (p.Ala1579=) | |
11 | g.121145792T>A | CA383022375 | TBCEL-TECTA,TECTA | c.3781T>A (p.Ser1261Thr) c.1088T>A n.346T>A c.4738T>A (p.Ser1580Thr) | |
11 | g.121145792T>C | CA383022377 | TBCEL-TECTA,TECTA | c.3781T>C (p.Ser1261Pro) c.1088T>C n.346T>C c.4738T>C (p.Ser1580Pro) | |
11 | g.121145792T>G | CA383022376 | TBCEL-TECTA,TECTA | c.3781T>G (p.Ser1261Ala) c.1088T>G n.346T>G c.4738T>G (p.Ser1580Ala) | |
11 | g.121145793_121145797dup | CA672607265 | TBCEL-TECTA,TECTA | c.3782_3786dup (p.Val1263ArgfsTer11) c.1089_1093dup n.347_351dup c.4739_4743dup (p.Val1582ArgfsTer11) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145793C>A | CA383022380 | TBCEL-TECTA,TECTA | c.3782C>A (p.Ser1261Ter) c.1089C>A n.347C>A c.4739C>A (p.Ser1580Ter) | |
11 | g.121145793C= | CA2004737542 | TBCEL-TECTA,TECTA | c.3782C= (p.Ser1261=) c.1089C= n.347C= c.4739C= (p.Ser1580=) | |
11 | g.121145793C>G | CA383022382 | TBCEL-TECTA,TECTA | c.3782C>G (p.Ser1261Trp) c.1089C>G n.347C>G c.4739C>G (p.Ser1580Trp) | |
11 | g.121145793C>T | CA383022383 | TBCEL-TECTA,TECTA | c.3782C>T (p.Ser1261Leu) c.1089C>T n.347C>T c.4739C>T (p.Ser1580Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.121145794G>A | CA477382878 | TBCEL-TECTA,TECTA | c.3783G>A (p.Ser1261=) c.1090G>A n.348G>A c.4740G>A (p.Ser1580=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145794G>C | CA477382879 | TBCEL-TECTA,TECTA | c.3783G>C (p.Ser1261=) c.1090G>C n.348G>C c.4740G>C (p.Ser1580=) | |
11 | g.121145794G= | CA2004737543 | TBCEL-TECTA,TECTA | c.3783G= (p.Ser1261=) c.1090G= n.348G= c.4740G= (p.Ser1580=) | |
11 | g.121145794G>T | CA477382880 | TBCEL-TECTA,TECTA | c.3783G>T (p.Ser1261=) c.1090G>T n.348G>T c.4740G>T (p.Ser1580=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145795A>C | CA383022387 | TBCEL-TECTA,TECTA | c.3784A>C (p.Ser1262Arg) c.1091A>C n.349A>C c.4741A>C (p.Ser1581Arg) | |
11 | g.121145795A>G | CA383022389 | TBCEL-TECTA,TECTA | c.3784A>G (p.Ser1262Gly) c.1091A>G n.349A>G c.4741A>G (p.Ser1581Gly) | |
11 | g.121145795A>T | CA383022391 | TBCEL-TECTA,TECTA | c.3784A>T (p.Ser1262Cys) c.1091A>T n.349A>T c.4741A>T (p.Ser1581Cys) | |
11 | g.121145796G>A | CA383022393 | TBCEL-TECTA,TECTA | c.3785G>A (p.Ser1262Asn) c.1092G>A n.350G>A c.4742G>A (p.Ser1581Asn) | |
11 | g.121145796G>C | CA383022395 | TBCEL-TECTA,TECTA | c.3785G>C (p.Ser1262Thr) c.1092G>C n.350G>C c.4742G>C (p.Ser1581Thr) | |
11 | g.121145796G= | CA2004737544 | TBCEL-TECTA,TECTA | c.3785G= (p.Ser1262=) c.1092G= n.350G= c.4742G= (p.Ser1581=) | |
11 | g.121145796G>T | CA6327290 | TBCEL-TECTA,TECTA | c.3785G>T (p.Ser1262Ile) c.1092G>T n.350G>T c.4742G>T (p.Ser1581Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145797T>A | CA383022399 | TBCEL-TECTA,TECTA | c.3786T>A (p.Ser1262Arg) c.1093T>A n.351T>A c.4743T>A (p.Ser1581Arg) | |
11 | g.121145797T>C | CA477382881 | TBCEL-TECTA,TECTA | c.3786T>C (p.Ser1262=) c.1093T>C n.351T>C c.4743T>C (p.Ser1581=) | gnomAD v4 |
11 | g.121145797T>G | CA383022401 | TBCEL-TECTA,TECTA | c.3786T>G (p.Ser1262Arg) c.1093T>G n.351T>G c.4743T>G (p.Ser1581Arg) | |
11 | g.121145798G>A | CA383022403 | TBCEL-TECTA,TECTA | c.3787G>A (p.Val1263Ile) c.1094G>A n.352G>A c.4744G>A (p.Val1582Ile) | dbSNP |
11 | g.121145798G>C | CA383022407 | TBCEL-TECTA,TECTA | c.3787G>C (p.Val1263Leu) c.1094G>C n.352G>C c.4744G>C (p.Val1582Leu) | |
11 | g.121145798G= | CA2004737545 | TBCEL-TECTA,TECTA | c.3787G= (p.Val1263=) c.1094G= n.352G= c.4744G= (p.Val1582=) | |
11 | g.121145798G>T | CA383022405 | TBCEL-TECTA,TECTA | c.3787G>T (p.Val1263Phe) c.1094G>T n.352G>T c.4744G>T (p.Val1582Phe) | dbSNP gnomAD v4 |
11 | g.121145799T>A | CA383022409 | TBCEL-TECTA,TECTA | c.3788T>A (p.Val1263Asp) c.1095T>A n.353T>A c.4745T>A (p.Val1582Asp) | |
11 | g.121145799T>C | CA383022414 | TBCEL-TECTA,TECTA | c.3788T>C (p.Val1263Ala) c.1095T>C n.353T>C c.4745T>C (p.Val1582Ala) | |
11 | g.121145799T>G | CA383022412 | TBCEL-TECTA,TECTA | c.3788T>G (p.Val1263Gly) c.1095T>G n.353T>G c.4745T>G (p.Val1582Gly) | |
11 | g.121145800C>A | CA477382882 | TBCEL-TECTA,TECTA | c.3789C>A (p.Val1263=) c.1096C>A n.354C>A c.4746C>A (p.Val1582=) | |
11 | g.121145800C>G | CA477382883 | TBCEL-TECTA,TECTA | c.3789C>G (p.Val1263=) c.1096C>G n.354C>G c.4746C>G (p.Val1582=) | |
11 | g.121145800C>T | CA477382884 | TBCEL-TECTA,TECTA | c.3789C>T (p.Val1263=) c.1096C>T n.354C>T c.4746C>T (p.Val1582=) | |
11 | g.121145801A= | CA2004737546 | TBCEL-TECTA,TECTA | c.3790A= (p.Asn1264=) c.1097A= n.355A= c.4747A= (p.Asn1583=) | |
11 | g.121145801A>C | CA383022416 | TBCEL-TECTA,TECTA | c.3790A>C (p.Asn1264His) c.1097A>C n.355A>C c.4747A>C (p.Asn1583His) | dbSNP |
11 | g.121145801A>G | CA383022418 | TBCEL-TECTA,TECTA | c.3790A>G (p.Asn1264Asp) c.1097A>G n.355A>G c.4747A>G (p.Asn1583Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145801A>T | CA383022420 | TBCEL-TECTA,TECTA | c.3790A>T (p.Asn1264Tyr) c.1097A>T n.355A>T c.4747A>T (p.Asn1583Tyr) | |
11 | g.121145802A= | CA2004737547 | TBCEL-TECTA,TECTA | c.3791A= (p.Asn1264=) c.1098A= n.356A= c.4748A= (p.Asn1583=) | |
11 | g.121145802A>C | CA383022423 | TBCEL-TECTA,TECTA | c.3791A>C (p.Asn1264Thr) c.1098A>C n.356A>C c.4748A>C (p.Asn1583Thr) | |
11 | g.121145802A>G | CA6327291 | TBCEL-TECTA,TECTA | c.3791A>G (p.Asn1264Ser) c.1098A>G n.356A>G c.4748A>G (p.Asn1583Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145802A>T | CA383022426 | TBCEL-TECTA,TECTA | c.3791A>T (p.Asn1264Ile) c.1098A>T n.356A>T c.4748A>T (p.Asn1583Ile) | |
11 | g.121145803T>A | CA383022429 | TBCEL-TECTA,TECTA | c.3792T>A (p.Asn1264Lys) c.1099T>A n.357T>A c.4749T>A (p.Asn1583Lys) | |
11 | g.121145803T>C | CA477382887 | TBCEL-TECTA,TECTA | c.3792T>C (p.Asn1264=) c.1099T>C n.357T>C c.4749T>C (p.Asn1583=) | |
11 | g.121145803T>G | CA383022431 | TBCEL-TECTA,TECTA | c.3792T>G (p.Asn1264Lys) c.1099T>G n.357T>G c.4749T>G (p.Asn1583Lys) | gnomAD v4 |
11 | g.121145804G>A | CA383022435 | TBCEL-TECTA,TECTA | c.3793G>A (p.Glu1265Lys) c.1100G>A n.358G>A c.4750G>A (p.Glu1584Lys) | gnomAD v4 |
11 | g.121145804G>C | CA383022436 | TBCEL-TECTA,TECTA | c.3793G>C (p.Glu1265Gln) c.1100G>C n.358G>C c.4750G>C (p.Glu1584Gln) | |
11 | g.121145804G>T | CA383022438 | TBCEL-TECTA,TECTA | c.3793G>T (p.Glu1265Ter) c.1100G>T n.358G>T c.4750G>T (p.Glu1584Ter) | |
11 | g.121145805A>C | CA383022444 | TBCEL-TECTA,TECTA | c.3794A>C (p.Glu1265Ala) c.1101A>C n.359A>C c.4751A>C (p.Glu1584Ala) | |
11 | g.121145805A>G | CA383022440 | TBCEL-TECTA,TECTA | c.3794A>G (p.Glu1265Gly) c.1101A>G n.359A>G c.4751A>G (p.Glu1584Gly) | |
11 | g.121145805A>T | CA383022442 | TBCEL-TECTA,TECTA | c.3794A>T (p.Glu1265Val) c.1101A>T n.359A>T c.4751A>T (p.Glu1584Val) | |
11 | g.121145806G>A | CA477382888 | TBCEL-TECTA,TECTA | c.3795G>A (p.Glu1265=) c.1102G>A n.360G>A c.4752G>A (p.Glu1584=) | |
11 | g.121145806G>C | CA383022447 | TBCEL-TECTA,TECTA | c.3795G>C (p.Glu1265Asp) c.1102G>C n.360G>C c.4752G>C (p.Glu1584Asp) | gnomAD v4 |
11 | g.121145806G>T | CA383022449 | TBCEL-TECTA,TECTA | c.3795G>T (p.Glu1265Asp) c.1102G>T n.360G>T c.4752G>T (p.Glu1584Asp) | |
11 | g.121145807T>A | CA383022451 | TBCEL-TECTA,TECTA | c.3796T>A (p.Phe1266Ile) c.1103T>A n.361T>A c.4753T>A (p.Phe1585Ile) | |
11 | g.121145807T>C | CA383022452 | TBCEL-TECTA,TECTA | c.3796T>C (p.Phe1266Leu) c.1103T>C n.361T>C c.4753T>C (p.Phe1585Leu) | |
11 | g.121145807T>G | CA383022453 | TBCEL-TECTA,TECTA | c.3796T>G (p.Phe1266Val) c.1103T>G n.361T>G c.4753T>G (p.Phe1585Val) | |
11 | g.121145809dup | CA645593863 | TBCEL-TECTA,TECTA | c.3798dup (p.Gly1267TrpfsTer?) c.1105dup n.363dup c.4755dup (p.Gly1586TrpfsTer?) | COSMIC |
11 | g.121145808T>A | CA383022454 | TBCEL-TECTA,TECTA | c.3797T>A (p.Phe1266Tyr) c.1104T>A n.362T>A c.4754T>A (p.Phe1585Tyr) | |
11 | g.121145808T>C | CA383022455 | TBCEL-TECTA,TECTA | c.3797T>C (p.Phe1266Ser) c.1104T>C n.362T>C c.4754T>C (p.Phe1585Ser) | gnomAD v4 |
11 | g.121145808T>G | CA383022457 | TBCEL-TECTA,TECTA | c.3797T>G (p.Phe1266Cys) c.1104T>G n.362T>G c.4754T>G (p.Phe1585Cys) | |
11 | g.121145809T>A | CA383022459 | TBCEL-TECTA,TECTA | c.3798T>A (p.Phe1266Leu) c.1105T>A n.363T>A c.4755T>A (p.Phe1585Leu) | |
11 | g.121145809T>C | CA477382890 | TBCEL-TECTA,TECTA | c.3798T>C (p.Phe1266=) c.1105T>C n.363T>C c.4755T>C (p.Phe1585=) | |
11 | g.121145809T>G | CA383022460 | TBCEL-TECTA,TECTA | c.3798T>G (p.Phe1266Leu) c.1105T>G n.363T>G c.4755T>G (p.Phe1585Leu) | |
11 | g.121145810G>A | CA383022465 | TBCEL-TECTA,TECTA | c.3799G>A (p.Gly1267Arg) c.1106G>A n.364G>A c.4756G>A (p.Gly1586Arg) | gnomAD v4 |
11 | g.121145810G>C | CA383022467 | TBCEL-TECTA,TECTA | c.3799G>C (p.Gly1267Arg) c.1106G>C n.364G>C c.4756G>C (p.Gly1586Arg) | |
11 | g.121145810G>T | CA383022461 | TBCEL-TECTA,TECTA | c.3799G>T (p.Gly1267Trp) c.1106G>T n.364G>T c.4756G>T (p.Gly1586Trp) | dbSNP |
11 | g.121145811G>A | CA383022471 | TBCEL-TECTA,TECTA | c.3800G>A (p.Gly1267Glu) c.1107G>A n.365G>A c.4757G>A (p.Gly1586Glu) | gnomAD v4 |
11 | g.121145811G>C | CA383022473 | TBCEL-TECTA,TECTA | c.3800G>C (p.Gly1267Ala) c.1107G>C n.365G>C c.4757G>C (p.Gly1586Ala) | |
11 | g.121145811G>T | CA383022474 | TBCEL-TECTA,TECTA | c.3800G>T (p.Gly1267Val) c.1107G>T n.365G>T c.4757G>T (p.Gly1586Val) | |
11 | g.121145812G>A | CA477382892 | TBCEL-TECTA,TECTA | c.3801G>A (p.Gly1267=) c.1108G>A n.366G>A c.4758G>A (p.Gly1586=) | |
11 | g.121145812G>C | CA477382894 | TBCEL-TECTA,TECTA | c.3801G>C (p.Gly1267=) c.1108G>C n.366G>C c.4758G>C (p.Gly1586=) | |
11 | g.121145812G>T | CA477382895 | TBCEL-TECTA,TECTA | c.3801G>T (p.Gly1267=) c.1108G>T n.366G>T c.4758G>T (p.Gly1586=) | |
11 | g.121145813C>A | CA383022477 | TBCEL-TECTA,TECTA | c.3802C>A (p.Gln1268Lys) c.1109C>A n.367C>A c.4759C>A (p.Gln1587Lys) | |
11 | g.121145813C>G | CA383022479 | TBCEL-TECTA,TECTA | c.3802C>G (p.Gln1268Glu) c.1109C>G n.367C>G c.4759C>G (p.Gln1587Glu) | |
11 | g.121145813C>T | CA383022480 | TBCEL-TECTA,TECTA | c.3802C>T (p.Gln1268Ter) c.1109C>T n.367C>T c.4759C>T (p.Gln1587Ter) | |
11 | g.121145814A= | CA2004737548 | TBCEL-TECTA,TECTA | c.3803A= (p.Gln1268=) c.1110A= n.368A= c.4760A= (p.Gln1587=) | |
11 | g.121145814A>C | CA383022481 | TBCEL-TECTA,TECTA | c.3803A>C (p.Gln1268Pro) c.1110A>C n.368A>C c.4760A>C (p.Gln1587Pro) | |
11 | g.121145814A>G | CA383022483 | TBCEL-TECTA,TECTA | c.3803A>G (p.Gln1268Arg) c.1110A>G n.368A>G c.4760A>G (p.Gln1587Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145814A>T | CA383022485 | TBCEL-TECTA,TECTA | c.3803A>T (p.Gln1268Leu) c.1110A>T n.368A>T c.4760A>T (p.Gln1587Leu) | |
11 | g.121145815G>A | CA477382898 | TBCEL-TECTA,TECTA | c.3804G>A (p.Gln1268=) c.1111G>A n.369G>A c.4761G>A (p.Gln1587=) | |
11 | g.121145815G>C | CA383022487 | TBCEL-TECTA,TECTA | c.3804G>C (p.Gln1268His) c.1111G>C n.369G>C c.4761G>C (p.Gln1587His) | gnomAD v4 |
11 | g.121145815G>T | CA383022489 | TBCEL-TECTA,TECTA | c.3804G>T (p.Gln1268His) c.1111G>T n.369G>T c.4761G>T (p.Gln1587His) | |
11 | g.121145816A>C | CA383022495 | TBCEL-TECTA,TECTA | c.3805A>C (p.Ser1269Arg) c.1112A>C n.370A>C c.4762A>C (p.Ser1588Arg) | |
11 | g.121145816A>G | CA383022497 | TBCEL-TECTA,TECTA | c.3805A>G (p.Ser1269Gly) c.1112A>G n.370A>G c.4762A>G (p.Ser1588Gly) | |
11 | g.121145816A>T | CA383022493 | TBCEL-TECTA,TECTA | c.3805A>T (p.Ser1269Cys) c.1112A>T n.370A>T c.4762A>T (p.Ser1588Cys) | |
11 | g.121145817G>A | CA383022500 | TBCEL-TECTA,TECTA | c.3806G>A (p.Ser1269Asn) c.1113G>A n.371G>A c.4763G>A (p.Ser1588Asn) | |
11 | g.121145817G>C | CA383022503 | TBCEL-TECTA,TECTA | c.3806G>C (p.Ser1269Thr) c.1113G>C n.371G>C c.4763G>C (p.Ser1588Thr) | |
11 | g.121145817G>T | CA383022505 | TBCEL-TECTA,TECTA | c.3806G>T (p.Ser1269Ile) c.1113G>T n.371G>T c.4763G>T (p.Ser1588Ile) | |
11 | g.121145818C>A | CA383022508 | TBCEL-TECTA,TECTA | c.3807C>A (p.Ser1269Arg) c.1114C>A n.372C>A c.4764C>A (p.Ser1588Arg) | |
11 | g.121145818C>G | CA383022509 | TBCEL-TECTA,TECTA | c.3807C>G (p.Ser1269Arg) c.1114C>G n.372C>G c.4764C>G (p.Ser1588Arg) | |
11 | g.121145818C>T | CA477382902 | TBCEL-TECTA,TECTA | c.3807C>T (p.Ser1269=) c.1114C>T n.372C>T c.4764C>T (p.Ser1588=) | |
11 | g.121145819T>A | CA383022517 | TBCEL-TECTA,TECTA | c.3808T>A (p.Trp1270Arg) c.1115T>A n.373T>A c.4765T>A (p.Trp1589Arg) | |
11 | g.121145819T>C | CA383022513 | TBCEL-TECTA,TECTA | c.3808T>C (p.Trp1270Arg) c.1115T>C n.373T>C c.4765T>C (p.Trp1589Arg) | |
11 | g.121145819T>G | CA383022515 | TBCEL-TECTA,TECTA | c.3808T>G (p.Trp1270Gly) c.1115T>G n.373T>G c.4765T>G (p.Trp1589Gly) | |
11 | g.121145820G>A | CA383022520 | TBCEL-TECTA,TECTA | c.3809G>A (p.Trp1270Ter) c.1116G>A n.374G>A c.4766G>A (p.Trp1589Ter) | |
11 | g.121145820G>C | CA383022523 | TBCEL-TECTA,TECTA | c.3809G>C (p.Trp1270Ser) c.1116G>C n.374G>C c.4766G>C (p.Trp1589Ser) | gnomAD v4 |
11 | g.121145820G= | CA2004737549 | TBCEL-TECTA,TECTA | c.3809G= (p.Trp1270=) c.1116G= n.374G= c.4766G= (p.Trp1589=) | |
11 | g.121145820G>T | CA383022525 | TBCEL-TECTA,TECTA | c.3809G>T (p.Trp1270Leu) c.1116G>T n.374G>T c.4766G>T (p.Trp1589Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145821G>A | CA383022528 | TBCEL-TECTA,TECTA | c.3810G>A (p.Trp1270Ter) c.1117G>A n.375G>A c.4767G>A (p.Trp1589Ter) | |
11 | g.121145821G>C | CA383022530 | TBCEL-TECTA,TECTA | c.3810G>C (p.Trp1270Cys) c.1117G>C n.375G>C c.4767G>C (p.Trp1589Cys) | |
11 | g.121145821G>T | CA383022531 | TBCEL-TECTA,TECTA | c.3810G>T (p.Trp1270Cys) c.1117G>T n.375G>T c.4767G>T (p.Trp1589Cys) | |
11 | g.121145822G>A | CA383022537 | TBCEL-TECTA,TECTA | c.3811G>A (p.Val1271Met) c.1118G>A n.376G>A c.4768G>A (p.Val1590Met) | gnomAD v4 |
11 | g.121145822G>C | CA383022539 | TBCEL-TECTA,TECTA | c.3811G>C (p.Val1271Leu) c.1118G>C n.376G>C c.4768G>C (p.Val1590Leu) | |
11 | g.121145822G>T | CA383022535 | TBCEL-TECTA,TECTA | c.3811G>T (p.Val1271Leu) c.1118G>T n.376G>T c.4768G>T (p.Val1590Leu) | |
11 | g.121145823T>A | CA383022542 | TBCEL-TECTA,TECTA | c.3812T>A (p.Val1271Glu) c.1119T>A n.377T>A c.4769T>A (p.Val1590Glu) | |
11 | g.121145823T>C | CA383022544 | TBCEL-TECTA,TECTA | c.3812T>C (p.Val1271Ala) c.1119T>C n.377T>C c.4769T>C (p.Val1590Ala) | |
11 | g.121145823T>G | CA229831477 | TBCEL-TECTA,TECTA | c.3812T>G (p.Val1271Gly) c.1119T>G n.377T>G c.4769T>G (p.Val1590Gly) | dbSNP |
11 | g.121145823T= | CA2004737550 | TBCEL-TECTA,TECTA | c.3812T= (p.Val1271=) c.1119T= n.377T= c.4769T= (p.Val1590=) | |
11 | g.121145824G>A | CA6327292 | TBCEL-TECTA,TECTA | c.3813G>A (p.Val1271=) c.1120G>A n.378G>A c.4770G>A (p.Val1590=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145824G>C | CA477382908 | TBCEL-TECTA,TECTA | c.3813G>C (p.Val1271=) c.1120G>C n.378G>C c.4770G>C (p.Val1590=) | |
11 | g.121145824G= | CA2004737551 | TBCEL-TECTA,TECTA | c.3813G= (p.Val1271=) c.1120G= n.378G= c.4770G= (p.Val1590=) | |
11 | g.121145824G>T | CA477382907 | TBCEL-TECTA,TECTA | c.3813G>T (p.Val1271=) c.1120G>T n.378G>T c.4770G>T (p.Val1590=) | |
11 | g.121145825A>C | CA383022550 | TBCEL-TECTA,TECTA | c.3814A>C (p.Lys1272Gln) c.1121A>C n.379A>C c.4771A>C (p.Lys1591Gln) | |
11 | g.121145825A>G | CA383022552 | TBCEL-TECTA,TECTA | c.3814A>G (p.Lys1272Glu) c.1121A>G n.379A>G c.4771A>G (p.Lys1591Glu) | |
11 | g.121145825A>T | CA383022555 | TBCEL-TECTA,TECTA | c.3814A>T (p.Lys1272Ter) c.1121A>T n.379A>T c.4771A>T (p.Lys1591Ter) | |
11 | g.121145826A>C | CA383022557 | TBCEL-TECTA,TECTA | c.3815A>C (p.Lys1272Thr) c.1122A>C n.380A>C c.4772A>C (p.Lys1591Thr) | |
11 | g.121145826A>G | CA383022561 | TBCEL-TECTA,TECTA | c.3815A>G (p.Lys1272Arg) c.1122A>G n.380A>G c.4772A>G (p.Lys1591Arg) | gnomAD v4 |
11 | g.121145826A>T | CA383022559 | TBCEL-TECTA,TECTA | c.3815A>T (p.Lys1272Met) c.1122A>T n.380A>T c.4772A>T (p.Lys1591Met) | |
11 | g.121145827G>A | CA477382912 | TBCEL-TECTA,TECTA | c.3816G>A (p.Lys1272=) c.1123G>A n.381G>A c.4773G>A (p.Lys1591=) | dbSNP gnomAD v4 COSMIC |
11 | g.121145827G>C | CA383022564 | TBCEL-TECTA,TECTA | c.3816G>C (p.Lys1272Asn) c.1123G>C n.381G>C c.4773G>C (p.Lys1591Asn) | gnomAD v4 |
11 | g.121145827G= | CA2004737552 | TBCEL-TECTA,TECTA | c.3816G= (p.Lys1272=) c.1123G= n.381G= c.4773G= (p.Lys1591=) | |
11 | g.121145827G>T | CA383022566 | TBCEL-TECTA,TECTA | c.3816G>T (p.Lys1272Asn) c.1123G>T n.381G>T c.4773G>T (p.Lys1591Asn) | gnomAD v4 |
11 | g.121145828A= | CA2004737553 | TBCEL-TECTA,TECTA | c.3817A= (p.Arg1273=) c.1124A= n.382A= c.4774A= (p.Arg1592=) | |
11 | g.121145828A>C | CA477382913 | TBCEL-TECTA,TECTA | c.3817A>C (p.Arg1273=) c.1124A>C n.382A>C c.4774A>C (p.Arg1592=) | |
11 | g.121145828A>G | CA6327293 | TBCEL-TECTA,TECTA | c.3817A>G (p.Arg1273Gly) c.1124A>G n.382A>G c.4774A>G (p.Arg1592Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145828A>T | CA383022567 | TBCEL-TECTA,TECTA | c.3817A>T (p.Arg1273Trp) c.1124A>T n.382A>T c.4774A>T (p.Arg1592Trp) | |
11 | g.121145829G>A | CA383022570 | TBCEL-TECTA,TECTA | c.3818G>A (p.Arg1273Lys) c.1125G>A n.383G>A c.4775G>A (p.Arg1592Lys) | |
11 | g.121145829G>C | CA383022568 | TBCEL-TECTA,TECTA | c.3818G>C (p.Arg1273Thr) c.1125G>C n.383G>C c.4775G>C (p.Arg1592Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145829G= | CA2004737554 | TBCEL-TECTA,TECTA | c.3818G= (p.Arg1273=) c.1125G= n.383G= c.4775G= (p.Arg1592=) | |
11 | g.121145829G>T | CA383022569 | TBCEL-TECTA,TECTA | c.3818G>T (p.Arg1273Met) c.1125G>T n.383G>T c.4775G>T (p.Arg1592Met) | |
11 | g.121145830G>A | CA477382915 | TBCEL-TECTA,TECTA | c.3819G>A (p.Arg1273=) c.1126G>A n.384G>A c.4776G>A (p.Arg1592=) | COSMIC |
11 | g.121145830G>C | CA383022571 | TBCEL-TECTA,TECTA | c.3819G>C (p.Arg1273Ser) c.1126G>C n.384G>C c.4776G>C (p.Arg1592Ser) | |
11 | g.121145830G>T | CA383022572 | TBCEL-TECTA,TECTA | c.3819G>T (p.Arg1273Ser) c.1126G>T n.384G>T c.4776G>T (p.Arg1592Ser) | |
11 | g.121145831G>A | CA383022573 | TBCEL-TECTA,TECTA | c.3820G>A (p.Asp1274Asn) c.1127G>A n.385G>A c.4777G>A (p.Asp1593Asn) | gnomAD v4 |
11 | g.121145831G>C | CA383022574 | TBCEL-TECTA,TECTA | c.3820G>C (p.Asp1274His) c.1127G>C n.385G>C c.4777G>C (p.Asp1593His) | |
11 | g.121145831G>T | CA383022575 | TBCEL-TECTA,TECTA | c.3820G>T (p.Asp1274Tyr) c.1127G>T n.385G>T c.4777G>T (p.Asp1593Tyr) | |
11 | g.121145832A>C | CA383022576 | TBCEL-TECTA,TECTA | c.3821A>C (p.Asp1274Ala) c.1128A>C n.386A>C c.4778A>C (p.Asp1593Ala) | |
11 | g.121145832A>G | CA383022577 | TBCEL-TECTA,TECTA | c.3821A>G (p.Asp1274Gly) c.1128A>G n.386A>G c.4778A>G (p.Asp1593Gly) | |
11 | g.121145832A>T | CA383022578 | TBCEL-TECTA,TECTA | c.3821A>T (p.Asp1274Val) c.1128A>T n.386A>T c.4778A>T (p.Asp1593Val) | |
11 | g.121145833C>A | CA383022579 | TBCEL-TECTA,TECTA | c.3822C>A (p.Asp1274Glu) c.1129C>A n.387C>A c.4779C>A (p.Asp1593Glu) | |
11 | g.121145833C>G | CA383022580 | TBCEL-TECTA,TECTA | c.3822C>G (p.Asp1274Glu) c.1129C>G n.387C>G c.4779C>G (p.Asp1593Glu) | |
11 | g.121145833C>T | CA477382918 | TBCEL-TECTA,TECTA | c.3822C>T (p.Asp1274=) c.1129C>T n.387C>T c.4779C>T (p.Asp1593=) | |
11 | g.121145834A>C | CA383022581 | TBCEL-TECTA,TECTA | c.3823A>C (p.Thr1275Pro) c.1130A>C n.388A>C c.4780A>C (p.Thr1594Pro) | |
11 | g.121145834A>G | CA383022582 | TBCEL-TECTA,TECTA | c.3823A>G (p.Thr1275Ala) c.1130A>G n.388A>G c.4780A>G (p.Thr1594Ala) | |
11 | g.121145834A>T | CA383022583 | TBCEL-TECTA,TECTA | c.3823A>T (p.Thr1275Ser) c.1130A>T n.388A>T c.4780A>T (p.Thr1594Ser) | |
11 | g.121145835C>A | CA383022586 | TBCEL-TECTA,TECTA | c.3824C>A (p.Thr1275Asn) c.1131C>A n.389C>A c.4781C>A (p.Thr1594Asn) | COSMIC |
11 | g.121145835C>G | CA383022584 | TBCEL-TECTA,TECTA | c.3824C>G (p.Thr1275Ser) c.1131C>G n.389C>G c.4781C>G (p.Thr1594Ser) | |
11 | g.121145835C>T | CA383022585 | TBCEL-TECTA,TECTA | c.3824C>T (p.Thr1275Ile) c.1131C>T n.389C>T c.4781C>T (p.Thr1594Ile) | |
11 | g.121145835_121145838delinsCCTT | CA2004737555 | TBCEL-TECTA,TECTA | c.3824_3827delinsCCTT (p.Thr1275=) c.1131_1134delinsCCTT n.389_392delinsCCTT c.4781_4784delinsCCTT (p.Thr1594=) | |
11 | g.121145836C>A | CA477382885 | TBCEL-TECTA,TECTA | c.3825C>A (p.Thr1275=) c.1132C>A n.390C>A c.4782C>A (p.Thr1594=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145836C= | CA2004737557 | TBCEL-TECTA,TECTA | c.3825C= (p.Thr1275=) c.1132C= n.390C= c.4782C= (p.Thr1594=) | |
11 | g.121145836C>G | CA477382886 | TBCEL-TECTA,TECTA | c.3825C>G (p.Thr1275=) c.1132C>G n.390C>G c.4782C>G (p.Thr1594=) | |
11 | g.121145836C>T | CA6327294 | TBCEL-TECTA,TECTA | c.3825C>T (p.Thr1275=) c.1132C>T n.390C>T c.4782C>T (p.Thr1594=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145838_121145840del | CA2004737556 | TBCEL-TECTA,TECTA | c.3827_3829del (p.Phe1276del) c.1134_1136del n.392_394del c.4784_4786del (p.Phe1595del) | dbSNP |
11 | g.121145837T>A | CA383022587 | TBCEL-TECTA,TECTA | c.3826T>A (p.Phe1276Ile) c.1133T>A n.391T>A c.4783T>A (p.Phe1595Ile) | |
11 | g.121145837T>C | CA383022588 | TBCEL-TECTA,TECTA | c.3826T>C (p.Phe1276Leu) c.1133T>C n.391T>C c.4783T>C (p.Phe1595Leu) | |
11 | g.121145837T>G | CA383022589 | TBCEL-TECTA,TECTA | c.3826T>G (p.Phe1276Val) c.1133T>G n.391T>G c.4783T>G (p.Phe1595Val) | |
11 | g.121145838T>A | CA383022590 | TBCEL-TECTA,TECTA | c.3827T>A (p.Phe1276Tyr) c.1134T>A n.392T>A c.4784T>A (p.Phe1595Tyr) | |
11 | g.121145838T>C | CA383022591 | TBCEL-TECTA,TECTA | c.3827T>C (p.Phe1276Ser) c.1134T>C n.392T>C c.4784T>C (p.Phe1595Ser) | |
11 | g.121145838T>G | CA383022592 | TBCEL-TECTA,TECTA | c.3827T>G (p.Phe1276Cys) c.1134T>G n.392T>G c.4784T>G (p.Phe1595Cys) | ClinVar dbSNP |
11 | g.121145839C>A | CA383022593 | TBCEL-TECTA,TECTA | c.3828C>A (p.Phe1276Leu) c.1135C>A n.393C>A c.4785C>A (p.Phe1595Leu) | |
11 | g.121145839C= | CA2004737558 | TBCEL-TECTA,TECTA | c.3828C= (p.Phe1276=) c.1135C= n.393C= c.4785C= (p.Phe1595=) | |
11 | g.121145839C>G | CA383022594 | TBCEL-TECTA,TECTA | c.3828C>G (p.Phe1276Leu) c.1135C>G n.393C>G c.4785C>G (p.Phe1595Leu) | |
11 | g.121145839C>T | CA6327295 | TBCEL-TECTA,TECTA | c.3828C>T (p.Phe1276=) c.1135C>T n.393C>T c.4785C>T (p.Phe1595=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145840T>A | CA383022595 | TBCEL-TECTA,TECTA | c.3829T>A (p.Cys1277Ser) c.1136T>A n.394T>A c.4786T>A (p.Cys1596Ser) | |
11 | g.121145840T>C | CA383022596 | TBCEL-TECTA,TECTA | c.3829T>C (p.Cys1277Arg) c.1136T>C n.394T>C c.4786T>C (p.Cys1596Arg) | |
11 | g.121145840T>G | CA383022597 | TBCEL-TECTA,TECTA | c.3829T>G (p.Cys1277Gly) c.1136T>G n.394T>G c.4786T>G (p.Cys1596Gly) | |
11 | g.121145841G>A | CA383022600 | TBCEL-TECTA,TECTA | c.3830G>A (p.Cys1277Tyr) c.1137G>A n.395G>A c.4787G>A (p.Cys1596Tyr) | |
11 | g.121145841G>C | CA383022599 | TBCEL-TECTA,TECTA | c.3830G>C (p.Cys1277Ser) c.1137G>C n.395G>C c.4787G>C (p.Cys1596Ser) | |
11 | g.121145841G= | CA2004737559 | TBCEL-TECTA,TECTA | c.3830G= (p.Cys1277=) c.1137G= n.395G= c.4787G= (p.Cys1596=) | |
11 | g.121145841G>T | CA383022598 | TBCEL-TECTA,TECTA | c.3830G>T (p.Cys1277Phe) c.1137G>T n.395G>T c.4787G>T (p.Cys1596Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.121145842C>A | CA383022601 | TBCEL-TECTA,TECTA | c.3831C>A (p.Cys1277Ter) c.1138C>A n.396C>A c.4788C>A (p.Cys1596Ter) | |
11 | g.121145842C>G | CA383022602 | TBCEL-TECTA,TECTA | c.3831C>G (p.Cys1277Trp) c.1138C>G n.396C>G c.4788C>G (p.Cys1596Trp) | |
11 | g.121145842C>T | CA477382889 | TBCEL-TECTA,TECTA | c.3831C>T (p.Cys1277=) c.1138C>T n.396C>T c.4788C>T (p.Cys1596=) | |
11 | g.121145843C>A | CA383022603 | TBCEL-TECTA,TECTA | c.3832C>A (p.Gln1278Lys) c.1139C>A n.397C>A c.4789C>A (p.Gln1597Lys) | gnomAD v4 |
11 | g.121145843C>G | CA383022604 | TBCEL-TECTA,TECTA | c.3832C>G (p.Gln1278Glu) c.1139C>G n.397C>G c.4789C>G (p.Gln1597Glu) | |
11 | g.121145843C>T | CA383022605 | TBCEL-TECTA,TECTA | c.3832C>T (p.Gln1278Ter) c.1139C>T n.397C>T c.4789C>T (p.Gln1597Ter) | |
11 | g.121145844A>C | CA383022606 | TBCEL-TECTA,TECTA | c.3833A>C (p.Gln1278Pro) c.1140A>C n.398A>C c.4790A>C (p.Gln1597Pro) | |
11 | g.121145844A>G | CA383022607 | TBCEL-TECTA,TECTA | c.3833A>G (p.Gln1278Arg) c.1140A>G n.398A>G c.4790A>G (p.Gln1597Arg) | |
11 | g.121145844A>T | CA383022608 | TBCEL-TECTA,TECTA | c.3833A>T (p.Gln1278Leu) c.1140A>T n.398A>T c.4790A>T (p.Gln1597Leu) | |
11 | g.121145845G>A | CA477382891 | TBCEL-TECTA,TECTA | c.3834G>A (p.Gln1278=) c.1141G>A n.399G>A c.4791G>A (p.Gln1597=) | |
11 | g.121145845G>C | CA383022609 | TBCEL-TECTA,TECTA | c.3834G>C (p.Gln1278His) c.1141G>C n.399G>C c.4791G>C (p.Gln1597His) | |
11 | g.121145845G>T | CA383022610 | TBCEL-TECTA,TECTA | c.3834G>T (p.Gln1278His) c.1141G>T n.399G>T c.4791G>T (p.Gln1597His) | |
11 | g.121145846G>A | CA383022611 | TBCEL-TECTA,TECTA | c.3835G>A (p.Val1279Met) c.1142G>A n.400G>A c.4792G>A (p.Val1598Met) | dbSNP |
11 | g.121145846G>C | CA383022612 | TBCEL-TECTA,TECTA | c.3835G>C (p.Val1279Leu) c.1142G>C n.400G>C c.4792G>C (p.Val1598Leu) | |
11 | g.121145846G= | CA2004737560 | TBCEL-TECTA,TECTA | c.3835G= (p.Val1279=) c.1142G= n.400G= c.4792G= (p.Val1598=) | |
11 | g.121145846G>T | CA383022613 | TBCEL-TECTA,TECTA | c.3835G>T (p.Val1279Leu) c.1142G>T n.400G>T c.4792G>T (p.Val1598Leu) | |
11 | g.121145847T>A | CA383022615 | TBCEL-TECTA,TECTA | c.3836T>A (p.Val1279Glu) c.1143T>A n.401T>A c.4793T>A (p.Val1598Glu) | |
11 | g.121145847T>C | CA383022616 | TBCEL-TECTA,TECTA | c.3836T>C (p.Val1279Ala) c.1143T>C n.401T>C c.4793T>C (p.Val1598Ala) | |
11 | g.121145847T>G | CA383022614 | TBCEL-TECTA,TECTA | c.3836T>G (p.Val1279Gly) c.1143T>G n.401T>G c.4793T>G (p.Val1598Gly) | gnomAD v4 |
11 | g.121145848G>A | CA6327296 | TBCEL-TECTA,TECTA | c.3837G>A (p.Val1279=) c.1144G>A n.402G>A c.4794G>A (p.Val1598=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145848G>C | CA477382896 | TBCEL-TECTA,TECTA | c.3837G>C (p.Val1279=) c.1144G>C n.402G>C c.4794G>C (p.Val1598=) | |
11 | g.121145848G= | CA2004737561 | TBCEL-TECTA,TECTA | c.3837G= (p.Val1279=) c.1144G= n.402G= c.4794G= (p.Val1598=) | |
11 | g.121145848G>T | CA477382893 | TBCEL-TECTA,TECTA | c.3837G>T (p.Val1279=) c.1144G>T n.402G>T c.4794G>T (p.Val1598=) | |
11 | g.121145849G>A | CA6327297 | TBCEL-TECTA,TECTA | c.3838G>A (p.Gly1280Ser) c.1145G>A n.403G>A c.4795G>A (p.Gly1599Ser) | dbSNP ExAC gnomAD v2 |
11 | g.121145849G>C | CA383022617 | TBCEL-TECTA,TECTA | c.3838G>C (p.Gly1280Arg) c.1145G>C n.403G>C c.4795G>C (p.Gly1599Arg) | |
11 | g.121145849G= | CA2004737562 | TBCEL-TECTA,TECTA | c.3838G= (p.Gly1280=) c.1145G= n.403G= c.4795G= (p.Gly1599=) | |
11 | g.121145849G>T | CA383022618 | TBCEL-TECTA,TECTA | c.3838G>T (p.Gly1280Cys) c.1145G>T n.403G>T c.4795G>T (p.Gly1599Cys) | |
11 | g.121145850G>A | CA383022619 | TBCEL-TECTA,TECTA | c.3839G>A (p.Gly1280Asp) c.1146G>A n.404G>A c.4796G>A (p.Gly1599Asp) | |
11 | g.121145850G>C | CA383022620 | TBCEL-TECTA,TECTA | c.3839G>C (p.Gly1280Ala) c.1146G>C n.404G>C c.4796G>C (p.Gly1599Ala) | |
11 | g.121145850G>T | CA383022621 | TBCEL-TECTA,TECTA | c.3839G>T (p.Gly1280Val) c.1146G>T n.404G>T c.4796G>T (p.Gly1599Val) | |
11 | g.121145851C>A | CA477382900 | TBCEL-TECTA,TECTA | c.3840C>A (p.Gly1280=) c.1147C>A n.405C>A c.4797C>A (p.Gly1599=) | |
11 | g.121145851C>G | CA477382897 | TBCEL-TECTA,TECTA | c.3840C>G (p.Gly1280=) c.1147C>G n.405C>G c.4797C>G (p.Gly1599=) | |
11 | g.121145851C>T | CA477382899 | TBCEL-TECTA,TECTA | c.3840C>T (p.Gly1280=) c.1147C>T n.405C>T c.4797C>T (p.Gly1599=) | |
11 | g.121145852T>A | CA383022622 | TBCEL-TECTA,TECTA | c.3841T>A (p.Cys1281Ser) c.1148T>A n.406T>A c.4798T>A (p.Cys1600Ser) | |
11 | g.121145852T>C | CA383022623 | TBCEL-TECTA,TECTA | c.3841T>C (p.Cys1281Arg) c.1148T>C n.406T>C c.4798T>C (p.Cys1600Arg) | |
11 | g.121145852T>G | CA383022624 | TBCEL-TECTA,TECTA | c.3841T>G (p.Cys1281Gly) c.1148T>G n.406T>G c.4798T>G (p.Cys1600Gly) | |
11 | g.121145853G>A | CA383022625 | TBCEL-TECTA,TECTA | c.3842G>A (p.Cys1281Tyr) c.1149G>A n.407G>A c.4799G>A (p.Cys1600Tyr) | gnomAD v4 |
11 | g.121145853G>C | CA383022626 | TBCEL-TECTA,TECTA | c.3842G>C (p.Cys1281Ser) c.1149G>C n.407G>C c.4799G>C (p.Cys1600Ser) | |
11 | g.121145853G= | CA2004737563 | TBCEL-TECTA,TECTA | c.3842G= (p.Cys1281=) c.1149G= n.407G= c.4799G= (p.Cys1600=) | |
11 | g.121145853G>T | CA383022627 | TBCEL-TECTA,TECTA | c.3842G>T (p.Cys1281Phe) c.1149G>T n.407G>T c.4799G>T (p.Cys1600Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145854T>A | CA383022628 | TBCEL-TECTA,TECTA | c.3843T>A (p.Cys1281Ter) c.1150T>A n.408T>A c.4800T>A (p.Cys1600Ter) | |
11 | g.121145854T>C | CA477382901 | TBCEL-TECTA,TECTA | c.3843T>C (p.Cys1281=) c.1150T>C n.408T>C c.4800T>C (p.Cys1600=) | |
11 | g.121145854T>G | CA383022629 | TBCEL-TECTA,TECTA | c.3843T>G (p.Cys1281Trp) c.1150T>G n.408T>G c.4800T>G (p.Cys1600Trp) |