Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.139962118T>A | CA369585213 | TBXAS1 | c.1019T>A (p.Ile340Asn) c.*808T>A (n.*808T>A) c.1157T>A (p.Ile386Asn) c.1022T>A (p.Ile341Asn) c.1160T>A (p.Ile387Asn) c.818T>A (p.Ile273Asn) n.990T>A n.502T>A n.384T>A c.962T>A (p.Ile321Asn) c.-4294966010T>A c.836T>A (p.Ile279Asn) c.764T>A (p.Ile255Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962118T>C | CA369585215 | TBXAS1 | c.1019T>C (p.Ile340Thr) c.*808T>C (n.*808T>C) c.1157T>C (p.Ile386Thr) c.1022T>C (p.Ile341Thr) c.1160T>C (p.Ile387Thr) c.818T>C (p.Ile273Thr) n.990T>C n.502T>C n.384T>C c.962T>C (p.Ile321Thr) c.-4294966010T>C c.836T>C (p.Ile279Thr) c.764T>C (p.Ile255Thr) | |
7 | g.139962118T>G | CA369585210 | TBXAS1 | c.1019T>G (p.Ile340Ser) c.*808T>G (n.*808T>G) c.1157T>G (p.Ile386Ser) c.1022T>G (p.Ile341Ser) c.1160T>G (p.Ile387Ser) c.818T>G (p.Ile273Ser) n.990T>G n.502T>G n.384T>G c.962T>G (p.Ile321Ser) c.-4294966010T>G c.836T>G (p.Ile279Ser) c.764T>G (p.Ile255Ser) | |
7 | g.139962118T= | CA1747341111 | TBXAS1 | c.1019T= (p.Ile340=) c.*808T= (n.*808T=) c.1157T= (p.Ile386=) c.1022T= (p.Ile341=) c.1160T= (p.Ile387=) c.818T= (p.Ile273=) n.990T= n.502T= n.384T= c.962T= (p.Ile321=) c.-4294966010T= c.836T= (p.Ile279=) c.764T= (p.Ile255=) | |
7 | g.139962119C>A | CA458115517 | TBXAS1 | c.1020C>A (p.Ile340=) c.*809C>A (n.*809C>A) c.1158C>A (p.Ile386=) c.1023C>A (p.Ile341=) c.1161C>A (p.Ile387=) c.819C>A (p.Ile273=) n.991C>A n.503C>A n.385C>A c.963C>A (p.Ile321=) c.-4294966009C>A c.837C>A (p.Ile279=) c.765C>A (p.Ile255=) | |
7 | g.139962119C= | CA1747341112 | TBXAS1 | c.1020C= (p.Ile340=) c.*809C= (n.*809C=) c.1158C= (p.Ile386=) c.1023C= (p.Ile341=) c.1161C= (p.Ile387=) c.819C= (p.Ile273=) n.991C= n.503C= n.385C= c.963C= (p.Ile321=) c.-4294966009C= c.837C= (p.Ile279=) c.765C= (p.Ile255=) | |
7 | g.139962119C>G | CA369585217 | TBXAS1 | c.1020C>G (p.Ile340Met) c.*809C>G (n.*809C>G) c.1158C>G (p.Ile386Met) c.1023C>G (p.Ile341Met) c.1161C>G (p.Ile387Met) c.819C>G (p.Ile273Met) n.991C>G n.503C>G n.385C>G c.963C>G (p.Ile321Met) c.-4294966009C>G c.837C>G (p.Ile279Met) c.765C>G (p.Ile255Met) | |
7 | g.139962119C>T | CA4511871 | TBXAS1 | c.1020C>T (p.Ile340=) c.*809C>T (n.*809C>T) c.1158C>T (p.Ile386=) c.1023C>T (p.Ile341=) c.1161C>T (p.Ile387=) c.819C>T (p.Ile273=) n.991C>T n.503C>T n.385C>T c.963C>T (p.Ile321=) c.-4294966009C>T c.837C>T (p.Ile279=) c.765C>T (p.Ile255=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.139962120G>A | CA369585223 | TBXAS1 | c.1021G>A (p.Ala341Thr) c.*810G>A (n.*810G>A) c.1159G>A (p.Ala387Thr) c.1024G>A (p.Ala342Thr) c.1162G>A (p.Ala388Thr) c.820G>A (p.Ala274Thr) n.992G>A n.504G>A n.386G>A c.964G>A (p.Ala322Thr) c.-4294966008G>A c.838G>A (p.Ala280Thr) c.766G>A (p.Ala256Thr) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962120G>C | CA369585226 | TBXAS1 | c.1021G>C (p.Ala341Pro) c.*810G>C (n.*810G>C) c.1159G>C (p.Ala387Pro) c.1024G>C (p.Ala342Pro) c.1162G>C (p.Ala388Pro) c.820G>C (p.Ala274Pro) n.992G>C n.504G>C n.386G>C c.964G>C (p.Ala322Pro) c.-4294966008G>C c.838G>C (p.Ala280Pro) c.766G>C (p.Ala256Pro) | |
7 | g.139962120G= | CA1747341113 | TBXAS1 | c.1021G= (p.Ala341=) c.*810G= (n.*810G=) c.1159G= (p.Ala387=) c.1024G= (p.Ala342=) c.1162G= (p.Ala388=) c.820G= (p.Ala274=) n.992G= n.504G= n.386G= c.964G= (p.Ala322=) c.-4294966008G= c.838G= (p.Ala280=) c.766G= (p.Ala256=) | |
7 | g.139962120G>T | CA369585228 | TBXAS1 | c.1021G>T (p.Ala341Ser) c.*810G>T (n.*810G>T) c.1159G>T (p.Ala387Ser) c.1024G>T (p.Ala342Ser) c.1162G>T (p.Ala388Ser) c.820G>T (p.Ala274Ser) n.992G>T n.504G>T n.386G>T c.964G>T (p.Ala322Ser) c.-4294966008G>T c.838G>T (p.Ala280Ser) c.766G>T (p.Ala256Ser) | gnomAD v4 |
7 | g.139962121C>A | CA369585231 | TBXAS1 | c.1022C>A (p.Ala341Asp) c.*811C>A (n.*811C>A) c.1160C>A (p.Ala387Asp) c.1025C>A (p.Ala342Asp) c.1163C>A (p.Ala388Asp) c.821C>A (p.Ala274Asp) n.993C>A n.505C>A n.387C>A c.965C>A (p.Ala322Asp) c.-4294966007C>A c.839C>A (p.Ala280Asp) c.767C>A (p.Ala256Asp) | dbSNP |
7 | g.139962121C= | CA1747341114 | TBXAS1 | c.1022C= (p.Ala341=) c.*811C= (n.*811C=) c.1160C= (p.Ala387=) c.1025C= (p.Ala342=) c.1163C= (p.Ala388=) c.821C= (p.Ala274=) n.993C= n.505C= n.387C= c.965C= (p.Ala322=) c.-4294966007C= c.839C= (p.Ala280=) c.767C= (p.Ala256=) | |
7 | g.139962121C>G | CA369585234 | TBXAS1 | c.1022C>G (p.Ala341Gly) c.*811C>G (n.*811C>G) c.1160C>G (p.Ala387Gly) c.1025C>G (p.Ala342Gly) c.1163C>G (p.Ala388Gly) c.821C>G (p.Ala274Gly) n.993C>G n.505C>G n.387C>G c.965C>G (p.Ala322Gly) c.-4294966007C>G c.839C>G (p.Ala280Gly) c.767C>G (p.Ala256Gly) | |
7 | g.139962121C>T | CA4511872 | TBXAS1 | c.1022C>T (p.Ala341Val) c.*811C>T (n.*811C>T) c.1160C>T (p.Ala387Val) c.1025C>T (p.Ala342Val) c.1163C>T (p.Ala388Val) c.821C>T (p.Ala274Val) n.993C>T n.505C>T n.387C>T c.965C>T (p.Ala322Val) c.-4294966007C>T c.839C>T (p.Ala280Val) c.767C>T (p.Ala256Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.139962122T>A | CA458115520 | TBXAS1 | c.1023T>A (p.Ala341=) c.*812T>A (n.*812T>A) c.1161T>A (p.Ala387=) c.1026T>A (p.Ala342=) c.1164T>A (p.Ala388=) c.822T>A (p.Ala274=) n.994T>A n.506T>A n.388T>A c.966T>A (p.Ala322=) c.-4294966006T>A c.840T>A (p.Ala280=) c.768T>A (p.Ala256=) | gnomAD v4 |
7 | g.139962122T>C | CA458115521 | TBXAS1 | c.1023T>C (p.Ala341=) c.*812T>C (n.*812T>C) c.1161T>C (p.Ala387=) c.1026T>C (p.Ala342=) c.1164T>C (p.Ala388=) c.822T>C (p.Ala274=) n.994T>C n.506T>C n.388T>C c.966T>C (p.Ala322=) c.-4294966006T>C c.840T>C (p.Ala280=) c.768T>C (p.Ala256=) | |
7 | g.139962122T>G | CA458115522 | TBXAS1 | c.1023T>G (p.Ala341=) c.*812T>G (n.*812T>G) c.1161T>G (p.Ala387=) c.1026T>G (p.Ala342=) c.1164T>G (p.Ala388=) c.822T>G (p.Ala274=) n.994T>G n.506T>G n.388T>G c.966T>G (p.Ala322=) c.-4294966006T>G c.840T>G (p.Ala280=) c.768T>G (p.Ala256=) | |
7 | g.139962123G>A | CA369585238 | TBXAS1 | c.1024G>A (p.Gly342Ser) c.*813G>A (n.*813G>A) c.1162G>A (p.Gly388Ser) c.1027G>A (p.Gly343Ser) c.1165G>A (p.Gly389Ser) c.823G>A (p.Gly275Ser) n.995G>A n.507G>A n.389G>A c.967G>A (p.Gly323Ser) c.-4294966005G>A c.841G>A (p.Gly281Ser) c.769G>A (p.Gly257Ser) | |
7 | g.139962123G>C | CA369585240 | TBXAS1 | c.1024G>C (p.Gly342Arg) c.*813G>C (n.*813G>C) c.1162G>C (p.Gly388Arg) c.1027G>C (p.Gly343Arg) c.1165G>C (p.Gly389Arg) c.823G>C (p.Gly275Arg) n.995G>C n.507G>C n.389G>C c.967G>C (p.Gly323Arg) c.-4294966005G>C c.841G>C (p.Gly281Arg) c.769G>C (p.Gly257Arg) | |
7 | g.139962123G>T | CA369585242 | TBXAS1 | c.1024G>T (p.Gly342Cys) c.*813G>T (n.*813G>T) c.1162G>T (p.Gly388Cys) c.1027G>T (p.Gly343Cys) c.1165G>T (p.Gly389Cys) c.823G>T (p.Gly275Cys) n.995G>T n.507G>T n.389G>T c.967G>T (p.Gly323Cys) c.-4294966005G>T c.841G>T (p.Gly281Cys) c.769G>T (p.Gly257Cys) | |
7 | g.139962124G>A | CA369585245 | TBXAS1 | c.1025G>A (p.Gly342Asp) c.*814G>A (n.*814G>A) c.1163G>A (p.Gly388Asp) c.1028G>A (p.Gly343Asp) c.1166G>A (p.Gly389Asp) c.824G>A (p.Gly275Asp) n.996G>A n.508G>A n.390G>A c.968G>A (p.Gly323Asp) c.-4294966004G>A c.842G>A (p.Gly281Asp) c.770G>A (p.Gly257Asp) | |
7 | g.139962124G>C | CA369585247 | TBXAS1 | c.1025G>C (p.Gly342Ala) c.*814G>C (n.*814G>C) c.1163G>C (p.Gly388Ala) c.1028G>C (p.Gly343Ala) c.1166G>C (p.Gly389Ala) c.824G>C (p.Gly275Ala) n.996G>C n.508G>C n.390G>C c.968G>C (p.Gly323Ala) c.-4294966004G>C c.842G>C (p.Gly281Ala) c.770G>C (p.Gly257Ala) | gnomAD v4 |
7 | g.139962124G>T | CA369585250 | TBXAS1 | c.1025G>T (p.Gly342Val) c.*814G>T (n.*814G>T) c.1163G>T (p.Gly388Val) c.1028G>T (p.Gly343Val) c.1166G>T (p.Gly389Val) c.824G>T (p.Gly275Val) n.996G>T n.508G>T n.390G>T c.968G>T (p.Gly323Val) c.-4294966004G>T c.842G>T (p.Gly281Val) c.770G>T (p.Gly257Val) | |
7 | g.139962125C>A | CA458115523 | TBXAS1 | c.1026C>A (p.Gly342=) c.*815C>A (n.*815C>A) c.1164C>A (p.Gly388=) c.1029C>A (p.Gly343=) c.1167C>A (p.Gly389=) c.825C>A (p.Gly275=) n.997C>A n.509C>A n.391C>A c.969C>A (p.Gly323=) c.-4294966003C>A c.843C>A (p.Gly281=) c.771C>A (p.Gly257=) | |
7 | g.139962125C>G | CA458115525 | TBXAS1 | c.1026C>G (p.Gly342=) c.*815C>G (n.*815C>G) c.1164C>G (p.Gly388=) c.1029C>G (p.Gly343=) c.1167C>G (p.Gly389=) c.825C>G (p.Gly275=) n.997C>G n.509C>G n.391C>G c.969C>G (p.Gly323=) c.-4294966003C>G c.843C>G (p.Gly281=) c.771C>G (p.Gly257=) | |
7 | g.139962125C>T | CA458115526 | TBXAS1 | c.1026C>T (p.Gly342=) c.*815C>T (n.*815C>T) c.1164C>T (p.Gly388=) c.1029C>T (p.Gly343=) c.1167C>T (p.Gly389=) c.825C>T (p.Gly275=) n.997C>T n.509C>T n.391C>T c.969C>T (p.Gly323=) c.-4294966003C>T c.843C>T (p.Gly281=) c.771C>T (p.Gly257=) | |
7 | g.139962126T>A | CA369585258 | TBXAS1 | c.1027T>A (p.Tyr343Asn) c.*816T>A (n.*816T>A) c.1165T>A (p.Tyr389Asn) c.1030T>A (p.Tyr344Asn) c.1168T>A (p.Tyr390Asn) c.826T>A (p.Tyr276Asn) n.998T>A n.510T>A n.392T>A c.970T>A (p.Tyr324Asn) c.-4294966002T>A c.844T>A (p.Tyr282Asn) c.772T>A (p.Tyr258Asn) | |
7 | g.139962126T>C | CA369585253 | TBXAS1 | c.1027T>C (p.Tyr343His) c.*816T>C (n.*816T>C) c.1165T>C (p.Tyr389His) c.1030T>C (p.Tyr344His) c.1168T>C (p.Tyr390His) c.826T>C (p.Tyr276His) n.998T>C n.510T>C n.392T>C c.970T>C (p.Tyr324His) c.-4294966002T>C c.844T>C (p.Tyr282His) c.772T>C (p.Tyr258His) | gnomAD v4 |
7 | g.139962126T>G | CA369585255 | TBXAS1 | c.1027T>G (p.Tyr343Asp) c.*816T>G (n.*816T>G) c.1165T>G (p.Tyr389Asp) c.1030T>G (p.Tyr344Asp) c.1168T>G (p.Tyr390Asp) c.826T>G (p.Tyr276Asp) n.998T>G n.510T>G n.392T>G c.970T>G (p.Tyr324Asp) c.-4294966002T>G c.844T>G (p.Tyr282Asp) c.772T>G (p.Tyr258Asp) | |
7 | g.139962127A>C | CA369585261 | TBXAS1 | c.1028A>C (p.Tyr343Ser) c.*817A>C (n.*817A>C) c.1166A>C (p.Tyr389Ser) c.1031A>C (p.Tyr344Ser) c.1169A>C (p.Tyr390Ser) c.827A>C (p.Tyr276Ser) n.999A>C n.511A>C n.393A>C c.971A>C (p.Tyr324Ser) c.-4294966001A>C c.845A>C (p.Tyr282Ser) c.773A>C (p.Tyr258Ser) | |
7 | g.139962127A>G | CA369585264 | TBXAS1 | c.1028A>G (p.Tyr343Cys) c.*817A>G (n.*817A>G) c.1166A>G (p.Tyr389Cys) c.1031A>G (p.Tyr344Cys) c.1169A>G (p.Tyr390Cys) c.827A>G (p.Tyr276Cys) n.999A>G n.511A>G n.393A>G c.971A>G (p.Tyr324Cys) c.-4294966001A>G c.845A>G (p.Tyr282Cys) c.773A>G (p.Tyr258Cys) | gnomAD v4 |
7 | g.139962127A>T | CA369585265 | TBXAS1 | c.1028A>T (p.Tyr343Phe) c.*817A>T (n.*817A>T) c.1166A>T (p.Tyr389Phe) c.1031A>T (p.Tyr344Phe) c.1169A>T (p.Tyr390Phe) c.827A>T (p.Tyr276Phe) n.999A>T n.511A>T n.393A>T c.971A>T (p.Tyr324Phe) c.-4294966001A>T c.845A>T (p.Tyr282Phe) c.773A>T (p.Tyr258Phe) | |
7 | g.139962128del | CA2685190570 | TBXAS1 | c.1029del (p.Tyr343Ter) c.*818del (n.*818del) c.1167del (p.Tyr389Ter) c.1032del (p.Tyr344Ter) c.1170del (p.Tyr390Ter) c.828del (p.Tyr276Ter) n.1000del n.512del n.394del c.972del (p.Tyr324Ter) c.-4294966000del c.846del (p.Tyr282Ter) c.774del (p.Tyr258Ter) | gnomAD v4 |
7 | g.139962128T>A | CA369585268 | TBXAS1 | c.1029T>A (p.Tyr343Ter) c.*818T>A (n.*818T>A) c.1167T>A (p.Tyr389Ter) c.1032T>A (p.Tyr344Ter) c.1170T>A (p.Tyr390Ter) c.828T>A (p.Tyr276Ter) n.1000T>A n.512T>A n.394T>A c.972T>A (p.Tyr324Ter) c.-4294966000T>A c.846T>A (p.Tyr282Ter) c.774T>A (p.Tyr258Ter) | |
7 | g.139962128T>C | CA4511873 | TBXAS1 | c.1029T>C (p.Tyr343=) c.*818T>C (n.*818T>C) c.1167T>C (p.Tyr389=) c.1032T>C (p.Tyr344=) c.1170T>C (p.Tyr390=) c.828T>C (p.Tyr276=) n.1000T>C n.512T>C n.394T>C c.972T>C (p.Tyr324=) c.-4294966000T>C c.846T>C (p.Tyr282=) c.774T>C (p.Tyr258=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962128T>G | CA369585271 | TBXAS1 | c.1029T>G (p.Tyr343Ter) c.*818T>G (n.*818T>G) c.1167T>G (p.Tyr389Ter) c.1032T>G (p.Tyr344Ter) c.1170T>G (p.Tyr390Ter) c.828T>G (p.Tyr276Ter) n.1000T>G n.512T>G n.394T>G c.972T>G (p.Tyr324Ter) c.-4294966000T>G c.846T>G (p.Tyr282Ter) c.774T>G (p.Tyr258Ter) | dbSNP |
7 | g.139962128T= | CA1747341115 | TBXAS1 | c.1029T= (p.Tyr343=) c.*818T= (n.*818T=) c.1167T= (p.Tyr389=) c.1032T= (p.Tyr344=) c.1170T= (p.Tyr390=) c.828T= (p.Tyr276=) n.1000T= n.512T= n.394T= c.972T= (p.Tyr324=) c.-4294966000T= c.846T= (p.Tyr282=) c.774T= (p.Tyr258=) | |
7 | g.139962129G>A | CA369585276 | TBXAS1 | c.1030G>A (p.Glu344Lys) c.*819G>A (n.*819G>A) c.1168G>A (p.Glu390Lys) c.1033G>A (p.Glu345Lys) c.1171G>A (p.Glu391Lys) c.829G>A (p.Glu277Lys) n.1001G>A n.513G>A n.395G>A c.973G>A (p.Glu325Lys) c.-4294965999G>A c.847G>A (p.Glu283Lys) c.775G>A (p.Glu259Lys) | |
7 | g.139962129G>C | CA369585278 | TBXAS1 | c.1030G>C (p.Glu344Gln) c.*819G>C (n.*819G>C) c.1168G>C (p.Glu390Gln) c.1033G>C (p.Glu345Gln) c.1171G>C (p.Glu391Gln) c.829G>C (p.Glu277Gln) n.1001G>C n.513G>C n.395G>C c.973G>C (p.Glu325Gln) c.-4294965999G>C c.847G>C (p.Glu283Gln) c.775G>C (p.Glu259Gln) | |
7 | g.139962129G>T | CA369585281 | TBXAS1 | c.1030G>T (p.Glu344Ter) c.*819G>T (n.*819G>T) c.1168G>T (p.Glu390Ter) c.1033G>T (p.Glu345Ter) c.1171G>T (p.Glu391Ter) c.829G>T (p.Glu277Ter) n.1001G>T n.513G>T n.395G>T c.973G>T (p.Glu325Ter) c.-4294965999G>T c.847G>T (p.Glu283Ter) c.775G>T (p.Glu259Ter) | |
7 | g.139962130A>C | CA369585285 | TBXAS1 | c.1031A>C (p.Glu344Ala) c.*820A>C (n.*820A>C) c.1169A>C (p.Glu390Ala) c.1034A>C (p.Glu345Ala) c.1172A>C (p.Glu391Ala) c.830A>C (p.Glu277Ala) n.1002A>C n.514A>C n.396A>C c.974A>C (p.Glu325Ala) c.-4294965998A>C c.848A>C (p.Glu283Ala) c.776A>C (p.Glu259Ala) | |
7 | g.139962130A>G | CA369585286 | TBXAS1 | c.1031A>G (p.Glu344Gly) c.*820A>G (n.*820A>G) c.1169A>G (p.Glu390Gly) c.1034A>G (p.Glu345Gly) c.1172A>G (p.Glu391Gly) c.830A>G (p.Glu277Gly) n.1002A>G n.514A>G n.396A>G c.974A>G (p.Glu325Gly) c.-4294965998A>G c.848A>G (p.Glu283Gly) c.776A>G (p.Glu259Gly) | |
7 | g.139962130A>T | CA369585288 | TBXAS1 | c.1031A>T (p.Glu344Val) c.*820A>T (n.*820A>T) c.1169A>T (p.Glu390Val) c.1034A>T (p.Glu345Val) c.1172A>T (p.Glu391Val) c.830A>T (p.Glu277Val) n.1002A>T n.514A>T n.396A>T c.974A>T (p.Glu325Val) c.-4294965998A>T c.848A>T (p.Glu283Val) c.776A>T (p.Glu259Val) | |
7 | g.139962131A>C | CA369585291 | TBXAS1 | c.1032A>C (p.Glu344Asp) c.*821A>C (n.*821A>C) c.1170A>C (p.Glu390Asp) c.1035A>C (p.Glu345Asp) c.1173A>C (p.Glu391Asp) c.831A>C (p.Glu277Asp) n.1003A>C n.515A>C n.397A>C c.975A>C (p.Glu325Asp) c.-4294965997A>C c.849A>C (p.Glu283Asp) c.777A>C (p.Glu259Asp) | |
7 | g.139962131A>G | CA458115530 | TBXAS1 | c.1032A>G (p.Glu344=) c.*821A>G (n.*821A>G) c.1170A>G (p.Glu390=) c.1035A>G (p.Glu345=) c.1173A>G (p.Glu391=) c.831A>G (p.Glu277=) n.1003A>G n.515A>G n.397A>G c.975A>G (p.Glu325=) c.-4294965997A>G c.849A>G (p.Glu283=) c.777A>G (p.Glu259=) | |
7 | g.139962131A>T | CA369585293 | TBXAS1 | c.1032A>T (p.Glu344Asp) c.*821A>T (n.*821A>T) c.1170A>T (p.Glu390Asp) c.1035A>T (p.Glu345Asp) c.1173A>T (p.Glu391Asp) c.831A>T (p.Glu277Asp) n.1003A>T n.515A>T n.397A>T c.975A>T (p.Glu325Asp) c.-4294965997A>T c.849A>T (p.Glu283Asp) c.777A>T (p.Glu259Asp) | |
7 | g.139962132A= | CA1747341116 | TBXAS1 | c.1033A= (p.Ile345=) c.*822A= (n.*822A=) c.1171A= (p.Ile391=) c.1036A= (p.Ile346=) c.1174A= (p.Ile392=) c.832A= (p.Ile278=) n.1004A= n.516A= n.398A= c.976A= (p.Ile326=) c.-4294965996A= c.850A= (p.Ile284=) c.778A= (p.Ile260=) | |
7 | g.139962132A>C | CA369585296 | TBXAS1 | c.1033A>C (p.Ile345Leu) c.*822A>C (n.*822A>C) c.1171A>C (p.Ile391Leu) c.1036A>C (p.Ile346Leu) c.1174A>C (p.Ile392Leu) c.832A>C (p.Ile278Leu) n.1004A>C n.516A>C n.398A>C c.976A>C (p.Ile326Leu) c.-4294965996A>C c.850A>C (p.Ile284Leu) c.778A>C (p.Ile260Leu) | |
7 | g.139962132A>G | CA369585299 | TBXAS1 | c.1033A>G (p.Ile345Val) c.*822A>G (n.*822A>G) c.1171A>G (p.Ile391Val) c.1036A>G (p.Ile346Val) c.1174A>G (p.Ile392Val) c.832A>G (p.Ile278Val) n.1004A>G n.516A>G n.398A>G c.976A>G (p.Ile326Val) c.-4294965996A>G c.850A>G (p.Ile284Val) c.778A>G (p.Ile260Val) | dbSNP gnomAD v4 |
7 | g.139962132A>T | CA369585302 | TBXAS1 | c.1033A>T (p.Ile345Phe) c.*822A>T (n.*822A>T) c.1171A>T (p.Ile391Phe) c.1036A>T (p.Ile346Phe) c.1174A>T (p.Ile392Phe) c.832A>T (p.Ile278Phe) n.1004A>T n.516A>T n.398A>T c.976A>T (p.Ile326Phe) c.-4294965996A>T c.850A>T (p.Ile284Phe) c.778A>T (p.Ile260Phe) | |
7 | g.139962133T>A | CA369585304 | TBXAS1 | c.1034T>A (p.Ile345Asn) c.*823T>A (n.*823T>A) c.1172T>A (p.Ile391Asn) c.1037T>A (p.Ile346Asn) c.1175T>A (p.Ile392Asn) c.833T>A (p.Ile278Asn) n.1005T>A n.517T>A n.399T>A c.977T>A (p.Ile326Asn) c.-4294965995T>A c.851T>A (p.Ile284Asn) c.779T>A (p.Ile260Asn) | ClinVar |
7 | g.139962133T>C | CA369585307 | TBXAS1 | c.1034T>C (p.Ile345Thr) c.*823T>C (n.*823T>C) c.1172T>C (p.Ile391Thr) c.1037T>C (p.Ile346Thr) c.1175T>C (p.Ile392Thr) c.833T>C (p.Ile278Thr) n.1005T>C n.517T>C n.399T>C c.977T>C (p.Ile326Thr) c.-4294965995T>C c.851T>C (p.Ile284Thr) c.779T>C (p.Ile260Thr) | |
7 | g.139962133T>G | CA369585309 | TBXAS1 | c.1034T>G (p.Ile345Ser) c.*823T>G (n.*823T>G) c.1172T>G (p.Ile391Ser) c.1037T>G (p.Ile346Ser) c.1175T>G (p.Ile392Ser) c.833T>G (p.Ile278Ser) n.1005T>G n.517T>G n.399T>G c.977T>G (p.Ile326Ser) c.-4294965995T>G c.851T>G (p.Ile284Ser) c.779T>G (p.Ile260Ser) | |
7 | g.139962134C>A | CA458115532 | TBXAS1 | c.1035C>A (p.Ile345=) c.*824C>A (n.*824C>A) c.1173C>A (p.Ile391=) c.1038C>A (p.Ile346=) c.1176C>A (p.Ile392=) c.834C>A (p.Ile278=) n.1006C>A n.518C>A n.400C>A c.978C>A (p.Ile326=) c.-4294965994C>A c.852C>A (p.Ile284=) c.780C>A (p.Ile260=) | gnomAD v4 |
7 | g.139962134C= | CA1747341117 | TBXAS1 | c.1035C= (p.Ile345=) c.*824C= (n.*824C=) c.1173C= (p.Ile391=) c.1038C= (p.Ile346=) c.1176C= (p.Ile392=) c.834C= (p.Ile278=) n.1006C= n.518C= n.400C= c.978C= (p.Ile326=) c.-4294965994C= c.852C= (p.Ile284=) c.780C= (p.Ile260=) | |
7 | g.139962134C>G | CA369585311 | TBXAS1 | c.1035C>G (p.Ile345Met) c.*824C>G (n.*824C>G) c.1173C>G (p.Ile391Met) c.1038C>G (p.Ile346Met) c.1176C>G (p.Ile392Met) c.834C>G (p.Ile278Met) n.1006C>G n.518C>G n.400C>G c.978C>G (p.Ile326Met) c.-4294965994C>G c.852C>G (p.Ile284Met) c.780C>G (p.Ile260Met) | |
7 | g.139962134C>T | CA167953449 | TBXAS1 | c.1035C>T (p.Ile345=) c.*824C>T (n.*824C>T) c.1173C>T (p.Ile391=) c.1038C>T (p.Ile346=) c.1176C>T (p.Ile392=) c.834C>T (p.Ile278=) n.1006C>T n.518C>T n.400C>T c.978C>T (p.Ile326=) c.-4294965994C>T c.852C>T (p.Ile284=) c.780C>T (p.Ile260=) | dbSNP |
7 | g.139962135A>C | CA369585317 | TBXAS1 | c.1036A>C (p.Ile346Leu) c.*825A>C (n.*825A>C) c.1174A>C (p.Ile392Leu) c.1039A>C (p.Ile347Leu) c.1177A>C (p.Ile393Leu) c.835A>C (p.Ile279Leu) n.1007A>C n.519A>C n.401A>C c.979A>C (p.Ile327Leu) c.-4294965993A>C c.853A>C (p.Ile285Leu) c.781A>C (p.Ile261Leu) | gnomAD v4 |
7 | g.139962135A>G | CA369585320 | TBXAS1 | c.1036A>G (p.Ile346Val) c.*825A>G (n.*825A>G) c.1174A>G (p.Ile392Val) c.1039A>G (p.Ile347Val) c.1177A>G (p.Ile393Val) c.835A>G (p.Ile279Val) n.1007A>G n.519A>G n.401A>G c.979A>G (p.Ile327Val) c.-4294965993A>G c.853A>G (p.Ile285Val) c.781A>G (p.Ile261Val) | dbSNP |
7 | g.139962135A>T | CA369585322 | TBXAS1 | c.1036A>T (p.Ile346Phe) c.*825A>T (n.*825A>T) c.1174A>T (p.Ile392Phe) c.1039A>T (p.Ile347Phe) c.1177A>T (p.Ile393Phe) c.835A>T (p.Ile279Phe) n.1007A>T n.519A>T n.401A>T c.979A>T (p.Ile327Phe) c.-4294965993A>T c.853A>T (p.Ile285Phe) c.781A>T (p.Ile261Phe) | |
7 | g.139962136T>A | CA369585330 | TBXAS1 | c.1037T>A (p.Ile346Asn) c.*826T>A (n.*826T>A) c.1175T>A (p.Ile392Asn) c.1040T>A (p.Ile347Asn) c.1178T>A (p.Ile393Asn) c.836T>A (p.Ile279Asn) n.1008T>A n.520T>A n.402T>A c.980T>A (p.Ile327Asn) c.-4294965992T>A c.854T>A (p.Ile285Asn) c.782T>A (p.Ile261Asn) | |
7 | g.139962136T>C | CA369585328 | TBXAS1 | c.1037T>C (p.Ile346Thr) c.*826T>C (n.*826T>C) c.1175T>C (p.Ile392Thr) c.1040T>C (p.Ile347Thr) c.1178T>C (p.Ile393Thr) c.836T>C (p.Ile279Thr) n.1008T>C n.520T>C n.402T>C c.980T>C (p.Ile327Thr) c.-4294965992T>C c.854T>C (p.Ile285Thr) c.782T>C (p.Ile261Thr) | |
7 | g.139962136T>G | CA369585325 | TBXAS1 | c.1037T>G (p.Ile346Ser) c.*826T>G (n.*826T>G) c.1175T>G (p.Ile392Ser) c.1040T>G (p.Ile347Ser) c.1178T>G (p.Ile393Ser) c.836T>G (p.Ile279Ser) n.1008T>G n.520T>G n.402T>G c.980T>G (p.Ile327Ser) c.-4294965992T>G c.854T>G (p.Ile285Ser) c.782T>G (p.Ile261Ser) | |
7 | g.139962136_139962139delinsTCAC | CA1747341118 | TBXAS1 | c.1037_1040delinsTCAC (p.Ile346=) c.*826_*829delinsTCAC (n.*826_*829delinsTCAC) c.1175_1178delinsTCAC (p.Ile392=) c.1040_1043delinsTCAC (p.Ile347=) c.1178_1181delinsTCAC (p.Ile393=) c.836_839delinsTCAC (p.Ile279=) n.1008_1011delinsTCAC n.520_523delinsTCAC n.402_405delinsTCAC c.980_983delinsTCAC (p.Ile327=) c.-4294965992_-4294965989delinsTCAC c.854_857delinsTCAC (p.Ile285=) c.782_785delinsTCAC (p.Ile261=) | |
7 | g.139962137C>A | CA458115533 | TBXAS1 | c.1038C>A (p.Ile346=) c.*827C>A (n.*827C>A) c.1176C>A (p.Ile392=) c.1041C>A (p.Ile347=) c.1179C>A (p.Ile393=) c.837C>A (p.Ile279=) n.1009C>A n.521C>A n.403C>A c.981C>A (p.Ile327=) c.-4294965991C>A c.855C>A (p.Ile285=) c.783C>A (p.Ile261=) | |
7 | g.139962137C>G | CA369585333 | TBXAS1 | c.1038C>G (p.Ile346Met) c.*827C>G (n.*827C>G) c.1176C>G (p.Ile392Met) c.1041C>G (p.Ile347Met) c.1179C>G (p.Ile393Met) c.837C>G (p.Ile279Met) n.1009C>G n.521C>G n.403C>G c.981C>G (p.Ile327Met) c.-4294965991C>G c.855C>G (p.Ile285Met) c.783C>G (p.Ile261Met) | |
7 | g.139962137C>T | CA458115534 | TBXAS1 | c.1038C>T (p.Ile346=) c.*827C>T (n.*827C>T) c.1176C>T (p.Ile392=) c.1041C>T (p.Ile347=) c.1179C>T (p.Ile393=) c.837C>T (p.Ile279=) n.1009C>T n.521C>T n.403C>T c.981C>T (p.Ile327=) c.-4294965991C>T c.855C>T (p.Ile285=) c.783C>T (p.Ile261=) | gnomAD v4 COSMIC COSMIC |
7 | g.139962139_139962141del | CA1107899007 | TBXAS1 | c.1040_1042del (p.Thr347del) c.*829_*831del (n.*829_*831del) c.1178_1180del (p.Thr393del) c.1043_1045del (p.Thr348del) c.1181_1183del (p.Thr394del) c.839_841del (p.Thr280del) n.1011_1013del n.523_525del n.405_407del c.983_985del (p.Thr328del) c.-4294965989_-4294965987del c.857_859del (p.Thr286del) c.785_787del (p.Thr262del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962138A>C | CA369585336 | TBXAS1 | c.1039A>C (p.Thr347Pro) c.*828A>C (n.*828A>C) c.1177A>C (p.Thr393Pro) c.1042A>C (p.Thr348Pro) c.1180A>C (p.Thr394Pro) c.838A>C (p.Thr280Pro) n.1010A>C n.522A>C n.404A>C c.982A>C (p.Thr328Pro) c.-4294965990A>C c.856A>C (p.Thr286Pro) c.784A>C (p.Thr262Pro) | |
7 | g.139962138A>G | CA369585339 | TBXAS1 | c.1039A>G (p.Thr347Ala) c.*828A>G (n.*828A>G) c.1177A>G (p.Thr393Ala) c.1042A>G (p.Thr348Ala) c.1180A>G (p.Thr394Ala) c.838A>G (p.Thr280Ala) n.1010A>G n.522A>G n.404A>G c.982A>G (p.Thr328Ala) c.-4294965990A>G c.856A>G (p.Thr286Ala) c.784A>G (p.Thr262Ala) | gnomAD v4 |
7 | g.139962138A>T | CA369585342 | TBXAS1 | c.1039A>T (p.Thr347Ser) c.*828A>T (n.*828A>T) c.1177A>T (p.Thr393Ser) c.1042A>T (p.Thr348Ser) c.1180A>T (p.Thr394Ser) c.838A>T (p.Thr280Ser) n.1010A>T n.522A>T n.404A>T c.982A>T (p.Thr328Ser) c.-4294965990A>T c.856A>T (p.Thr286Ser) c.784A>T (p.Thr262Ser) | |
7 | g.139962139C>A | CA369585346 | TBXAS1 | c.1040C>A (p.Thr347Asn) c.*829C>A (n.*829C>A) c.1178C>A (p.Thr393Asn) c.1043C>A (p.Thr348Asn) c.1181C>A (p.Thr394Asn) c.839C>A (p.Thr280Asn) n.1011C>A n.523C>A n.405C>A c.983C>A (p.Thr328Asn) c.-4294965989C>A c.857C>A (p.Thr286Asn) c.785C>A (p.Thr262Asn) | gnomAD v4 |
7 | g.139962139C= | CA1747341119 | TBXAS1 | c.1040C= (p.Thr347=) c.*829C= (n.*829C=) c.1178C= (p.Thr393=) c.1043C= (p.Thr348=) c.1181C= (p.Thr394=) c.839C= (p.Thr280=) n.1011C= n.523C= n.405C= c.983C= (p.Thr328=) c.-4294965989C= c.857C= (p.Thr286=) c.785C= (p.Thr262=) | |
7 | g.139962139C>G | CA369585348 | TBXAS1 | c.1040C>G (p.Thr347Ser) c.*829C>G (n.*829C>G) c.1178C>G (p.Thr393Ser) c.1043C>G (p.Thr348Ser) c.1181C>G (p.Thr394Ser) c.839C>G (p.Thr280Ser) n.1011C>G n.523C>G n.405C>G c.983C>G (p.Thr328Ser) c.-4294965989C>G c.857C>G (p.Thr286Ser) c.785C>G (p.Thr262Ser) | |
7 | g.139962139C>T | CA4511874 | TBXAS1 | c.1040C>T (p.Thr347Ile) c.*829C>T (n.*829C>T) c.1178C>T (p.Thr393Ile) c.1043C>T (p.Thr348Ile) c.1181C>T (p.Thr394Ile) c.839C>T (p.Thr280Ile) n.1011C>T n.523C>T n.405C>T c.983C>T (p.Thr328Ile) c.-4294965989C>T c.857C>T (p.Thr286Ile) c.785C>T (p.Thr262Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962142_139962143insACACACCCAA | CA2778140910 | TBXAS1 | c.1043_1044insACACACCCAA (p.Asn348LysfsTer18) c.*832_*833insACACACCCAA (n.*832_*833insACACACCCAA) c.1181_1182insACACACCCAA (p.Asn394LysfsTer18) c.1046_1047insACACACCCAA (p.Asn349LysfsTer18) c.1184_1185insACACACCCAA (p.Asn395LysfsTer18) c.842_843insACACACCCAA (p.Asn281LysfsTer18) n.1014_1015insACACACCCAA n.526_527insACACACCCAA n.408_409insACACACCCAA c.986_987insACACACCCAA (p.Asn329LysfsTer18) c.-4294965986_-4294965985insACACACCCAA c.860_861insACACACCCAA (p.Asn287LysfsTer18) c.788_789insACACACCCAA (p.Asn263LysfsTer18) | |
7 | g.139962140C>A | CA458115538 | TBXAS1 | c.1041C>A (p.Thr347=) c.*830C>A (n.*830C>A) c.1179C>A (p.Thr393=) c.1044C>A (p.Thr348=) c.1182C>A (p.Thr394=) c.840C>A (p.Thr280=) n.1012C>A n.524C>A n.406C>A c.984C>A (p.Thr328=) c.-4294965988C>A c.858C>A (p.Thr286=) c.786C>A (p.Thr262=) | |
7 | g.139962140C>G | CA458115537 | TBXAS1 | c.1041C>G (p.Thr347=) c.*830C>G (n.*830C>G) c.1179C>G (p.Thr393=) c.1044C>G (p.Thr348=) c.1182C>G (p.Thr394=) c.840C>G (p.Thr280=) n.1012C>G n.524C>G n.406C>G c.984C>G (p.Thr328=) c.-4294965988C>G c.858C>G (p.Thr286=) c.786C>G (p.Thr262=) | |
7 | g.139962140C>T | CA458115536 | TBXAS1 | c.1041C>T (p.Thr347=) c.*830C>T (n.*830C>T) c.1179C>T (p.Thr393=) c.1044C>T (p.Thr348=) c.1182C>T (p.Thr394=) c.840C>T (p.Thr280=) n.1012C>T n.524C>T n.406C>T c.984C>T (p.Thr328=) c.-4294965988C>T c.858C>T (p.Thr286=) c.786C>T (p.Thr262=) | |
7 | g.139962141A>C | CA369585354 | TBXAS1 | c.1042A>C (p.Asn348His) c.*831A>C (n.*831A>C) c.1180A>C (p.Asn394His) c.1045A>C (p.Asn349His) c.1183A>C (p.Asn395His) c.841A>C (p.Asn281His) n.1013A>C n.525A>C n.407A>C c.985A>C (p.Asn329His) c.-4294965987A>C c.859A>C (p.Asn287His) c.787A>C (p.Asn263His) | |
7 | g.139962141A>G | CA369585356 | TBXAS1 | c.1042A>G (p.Asn348Asp) c.*831A>G (n.*831A>G) c.1180A>G (p.Asn394Asp) c.1045A>G (p.Asn349Asp) c.1183A>G (p.Asn395Asp) c.841A>G (p.Asn281Asp) n.1013A>G n.525A>G n.407A>G c.985A>G (p.Asn329Asp) c.-4294965987A>G c.859A>G (p.Asn287Asp) c.787A>G (p.Asn263Asp) | |
7 | g.139962141A>T | CA369585358 | TBXAS1 | c.1042A>T (p.Asn348Tyr) c.*831A>T (n.*831A>T) c.1180A>T (p.Asn394Tyr) c.1045A>T (p.Asn349Tyr) c.1183A>T (p.Asn395Tyr) c.841A>T (p.Asn281Tyr) n.1013A>T n.525A>T n.407A>T c.985A>T (p.Asn329Tyr) c.-4294965987A>T c.859A>T (p.Asn287Tyr) c.787A>T (p.Asn263Tyr) | |
7 | g.139962141_139962145delinsAACAC | CA1747341120 | TBXAS1 | c.1042_1046delinsAACAC (p.Asn348=) c.*831_*835delinsAACAC (n.*831_*835delinsAACAC) c.1180_1184delinsAACAC (p.Asn394=) c.1045_1049delinsAACAC (p.Asn349=) c.1183_1187delinsAACAC (p.Asn395=) c.841_845delinsAACAC (p.Asn281=) n.1013_1017delinsAACAC n.525_529delinsAACAC n.407_411delinsAACAC c.985_989delinsAACAC (p.Asn329=) c.-4294965987_-4294965983delinsAACAC c.859_863delinsAACAC (p.Asn287=) c.787_791delinsAACAC (p.Asn263=) | |
7 | g.139962142A= | CA1747341122 | TBXAS1 | c.1043A= (p.Asn348=) c.*832A= (n.*832A=) c.1181A= (p.Asn394=) c.1046A= (p.Asn349=) c.1184A= (p.Asn395=) c.842A= (p.Asn281=) n.1014A= n.526A= n.408A= c.986A= (p.Asn329=) c.-4294965986A= c.860A= (p.Asn287=) c.788A= (p.Asn263=) | |
7 | g.139962142A>C | CA369585362 | TBXAS1 | c.1043A>C (p.Asn348Thr) c.*832A>C (n.*832A>C) c.1181A>C (p.Asn394Thr) c.1046A>C (p.Asn349Thr) c.1184A>C (p.Asn395Thr) c.842A>C (p.Asn281Thr) n.1014A>C n.526A>C n.408A>C c.986A>C (p.Asn329Thr) c.-4294965986A>C c.860A>C (p.Asn287Thr) c.788A>C (p.Asn263Thr) | |
7 | g.139962142A>G | CA369585365 | TBXAS1 | c.1043A>G (p.Asn348Ser) c.*832A>G (n.*832A>G) c.1181A>G (p.Asn394Ser) c.1046A>G (p.Asn349Ser) c.1184A>G (p.Asn395Ser) c.842A>G (p.Asn281Ser) n.1014A>G n.526A>G n.408A>G c.986A>G (p.Asn329Ser) c.-4294965986A>G c.860A>G (p.Asn287Ser) c.788A>G (p.Asn263Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962142A>T | CA369585367 | TBXAS1 | c.1043A>T (p.Asn348Ile) c.*832A>T (n.*832A>T) c.1181A>T (p.Asn394Ile) c.1046A>T (p.Asn349Ile) c.1184A>T (p.Asn395Ile) c.842A>T (p.Asn281Ile) n.1014A>T n.526A>T n.408A>T c.986A>T (p.Asn329Ile) c.-4294965986A>T c.860A>T (p.Asn287Ile) c.788A>T (p.Asn263Ile) | |
7 | g.139962144_139962147del | CA1747341121 | TBXAS1 | c.1045_1048del (p.Thr349PhefsTer19) c.*834_*837del (n.*834_*837del) c.1183_1186del (p.Thr395PhefsTer19) c.1048_1051del (p.Thr350PhefsTer19) c.1186_1189del (p.Thr396PhefsTer19) c.844_847del (p.Thr282PhefsTer19) n.1016_1019del n.528_531del n.410_413del c.988_991del (p.Thr330PhefsTer19) c.-4294965984_-4294965981del c.862_865del (p.Thr288PhefsTer19) c.790_793del (p.Thr264PhefsTer19) | dbSNP |
7 | g.139962143C>A | CA369585373 | TBXAS1 | c.1044C>A (p.Asn348Lys) c.*833C>A (n.*833C>A) c.1182C>A (p.Asn394Lys) c.1047C>A (p.Asn349Lys) c.1185C>A (p.Asn395Lys) c.843C>A (p.Asn281Lys) n.1015C>A n.527C>A n.409C>A c.987C>A (p.Asn329Lys) c.-4294965985C>A c.861C>A (p.Asn287Lys) c.789C>A (p.Asn263Lys) | |
7 | g.139962143C>G | CA369585371 | TBXAS1 | c.1044C>G (p.Asn348Lys) c.*833C>G (n.*833C>G) c.1182C>G (p.Asn394Lys) c.1047C>G (p.Asn349Lys) c.1185C>G (p.Asn395Lys) c.843C>G (p.Asn281Lys) n.1015C>G n.527C>G n.409C>G c.987C>G (p.Asn329Lys) c.-4294965985C>G c.861C>G (p.Asn287Lys) c.789C>G (p.Asn263Lys) | |
7 | g.139962143C>T | CA458115539 | TBXAS1 | c.1044C>T (p.Asn348=) c.*833C>T (n.*833C>T) c.1182C>T (p.Asn394=) c.1047C>T (p.Asn349=) c.1185C>T (p.Asn395=) c.843C>T (p.Asn281=) n.1015C>T n.527C>T n.409C>T c.987C>T (p.Asn329=) c.-4294965985C>T c.861C>T (p.Asn287=) c.789C>T (p.Asn263=) | |
7 | g.139962144A>C | CA369585377 | TBXAS1 | c.1045A>C (p.Thr349Pro) c.*834A>C (n.*834A>C) c.1183A>C (p.Thr395Pro) c.1048A>C (p.Thr350Pro) c.1186A>C (p.Thr396Pro) c.844A>C (p.Thr282Pro) n.1016A>C n.528A>C n.410A>C c.988A>C (p.Thr330Pro) c.-4294965984A>C c.862A>C (p.Thr288Pro) c.790A>C (p.Thr264Pro) | |
7 | g.139962144A>G | CA369585383 | TBXAS1 | c.1045A>G (p.Thr349Ala) c.*834A>G (n.*834A>G) c.1183A>G (p.Thr395Ala) c.1048A>G (p.Thr350Ala) c.1186A>G (p.Thr396Ala) c.844A>G (p.Thr282Ala) n.1016A>G n.528A>G n.410A>G c.988A>G (p.Thr330Ala) c.-4294965984A>G c.862A>G (p.Thr288Ala) c.790A>G (p.Thr264Ala) | |
7 | g.139962144A>T | CA369585380 | TBXAS1 | c.1045A>T (p.Thr349Ser) c.*834A>T (n.*834A>T) c.1183A>T (p.Thr395Ser) c.1048A>T (p.Thr350Ser) c.1186A>T (p.Thr396Ser) c.844A>T (p.Thr282Ser) n.1016A>T n.528A>T n.410A>T c.988A>T (p.Thr330Ser) c.-4294965984A>T c.862A>T (p.Thr288Ser) c.790A>T (p.Thr264Ser) | |
7 | g.139962145C>A | CA369585387 | TBXAS1 | c.1046C>A (p.Thr349Lys) c.*835C>A (n.*835C>A) c.1184C>A (p.Thr395Lys) c.1049C>A (p.Thr350Lys) c.1187C>A (p.Thr396Lys) c.845C>A (p.Thr282Lys) n.1017C>A n.529C>A n.411C>A c.989C>A (p.Thr330Lys) c.-4294965983C>A c.863C>A (p.Thr288Lys) c.791C>A (p.Thr264Lys) | |
7 | g.139962145C= | CA1747341123 | TBXAS1 | c.1046C= (p.Thr349=) c.*835C= (n.*835C=) c.1184C= (p.Thr395=) c.1049C= (p.Thr350=) c.1187C= (p.Thr396=) c.845C= (p.Thr282=) n.1017C= n.529C= n.411C= c.989C= (p.Thr330=) c.-4294965983C= c.863C= (p.Thr288=) c.791C= (p.Thr264=) | |
7 | g.139962145C>G | CA369585392 | TBXAS1 | c.1046C>G (p.Thr349Arg) c.*835C>G (n.*835C>G) c.1184C>G (p.Thr395Arg) c.1049C>G (p.Thr350Arg) c.1187C>G (p.Thr396Arg) c.845C>G (p.Thr282Arg) n.1017C>G n.529C>G n.411C>G c.989C>G (p.Thr330Arg) c.-4294965983C>G c.863C>G (p.Thr288Arg) c.791C>G (p.Thr264Arg) | |
7 | g.139962145C>T | CA369585389 | TBXAS1 | c.1046C>T (p.Thr349Ile) c.*835C>T (n.*835C>T) c.1184C>T (p.Thr395Ile) c.1049C>T (p.Thr350Ile) c.1187C>T (p.Thr396Ile) c.845C>T (p.Thr282Ile) n.1017C>T n.529C>T n.411C>T c.989C>T (p.Thr330Ile) c.-4294965983C>T c.863C>T (p.Thr288Ile) c.791C>T (p.Thr264Ile) | dbSNP gnomAD v2 |
7 | g.139962146A= | CA1747341124 | TBXAS1 | c.1047A= (p.Thr349=) c.*836A= (n.*836A=) c.1185A= (p.Thr395=) c.1050A= (p.Thr350=) c.1188A= (p.Thr396=) c.846A= (p.Thr282=) n.1018A= n.530A= n.412A= c.990A= (p.Thr330=) c.-4294965982A= c.864A= (p.Thr288=) c.792A= (p.Thr264=) | |
7 | g.139962146A>C | CA458115541 | TBXAS1 | c.1047A>C (p.Thr349=) c.*836A>C (n.*836A>C) c.1185A>C (p.Thr395=) c.1050A>C (p.Thr350=) c.1188A>C (p.Thr396=) c.846A>C (p.Thr282=) n.1018A>C n.530A>C n.412A>C c.990A>C (p.Thr330=) c.-4294965982A>C c.864A>C (p.Thr288=) c.792A>C (p.Thr264=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962146A>G | CA458115543 | TBXAS1 | c.1047A>G (p.Thr349=) c.*836A>G (n.*836A>G) c.1185A>G (p.Thr395=) c.1050A>G (p.Thr350=) c.1188A>G (p.Thr396=) c.846A>G (p.Thr282=) n.1018A>G n.530A>G n.412A>G c.990A>G (p.Thr330=) c.-4294965982A>G c.864A>G (p.Thr288=) c.792A>G (p.Thr264=) | |
7 | g.139962146A>T | CA458115542 | TBXAS1 | c.1047A>T (p.Thr349=) c.*836A>T (n.*836A>T) c.1185A>T (p.Thr395=) c.1050A>T (p.Thr350=) c.1188A>T (p.Thr396=) c.846A>T (p.Thr282=) n.1018A>T n.530A>T n.412A>T c.990A>T (p.Thr330=) c.-4294965982A>T c.864A>T (p.Thr288=) c.792A>T (p.Thr264=) | gnomAD v4 |
7 | g.139962147C>A | CA369585396 | TBXAS1 | c.1048C>A (p.Leu350Ile) c.*837C>A (n.*837C>A) c.1186C>A (p.Leu396Ile) c.1051C>A (p.Leu351Ile) c.1189C>A (p.Leu397Ile) c.847C>A (p.Leu283Ile) n.1019C>A n.531C>A n.413C>A c.991C>A (p.Leu331Ile) c.-4294965981C>A c.865C>A (p.Leu289Ile) c.793C>A (p.Leu265Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962147C= | CA1747341125 | TBXAS1 | c.1048C= (p.Leu350=) c.*837C= (n.*837C=) c.1186C= (p.Leu396=) c.1051C= (p.Leu351=) c.1189C= (p.Leu397=) c.847C= (p.Leu283=) n.1019C= n.531C= n.413C= c.991C= (p.Leu331=) c.-4294965981C= c.865C= (p.Leu289=) c.793C= (p.Leu265=) | |
7 | g.139962147C>G | CA369585399 | TBXAS1 | c.1048C>G (p.Leu350Val) c.*837C>G (n.*837C>G) c.1186C>G (p.Leu396Val) c.1051C>G (p.Leu351Val) c.1189C>G (p.Leu397Val) c.847C>G (p.Leu283Val) n.1019C>G n.531C>G n.413C>G c.991C>G (p.Leu331Val) c.-4294965981C>G c.865C>G (p.Leu289Val) c.793C>G (p.Leu265Val) | |
7 | g.139962147C>T | CA369585401 | TBXAS1 | c.1048C>T (p.Leu350Phe) c.*837C>T (n.*837C>T) c.1186C>T (p.Leu396Phe) c.1051C>T (p.Leu351Phe) c.1189C>T (p.Leu397Phe) c.847C>T (p.Leu283Phe) n.1019C>T n.531C>T n.413C>T c.991C>T (p.Leu331Phe) c.-4294965981C>T c.865C>T (p.Leu289Phe) c.793C>T (p.Leu265Phe) | gnomAD v4 |
7 | g.139962148T>A | CA369585404 | TBXAS1 | c.1049T>A (p.Leu350His) c.*838T>A (n.*838T>A) c.1187T>A (p.Leu396His) c.1052T>A (p.Leu351His) c.1190T>A (p.Leu397His) c.848T>A (p.Leu283His) n.1020T>A n.532T>A n.414T>A c.992T>A (p.Leu331His) c.-4294965980T>A c.866T>A (p.Leu289His) c.794T>A (p.Leu265His) | |
7 | g.139962148T>C | CA167953450 | TBXAS1 | c.1049T>C (p.Leu350Pro) c.*838T>C (n.*838T>C) c.1187T>C (p.Leu396Pro) c.1052T>C (p.Leu351Pro) c.1190T>C (p.Leu397Pro) c.848T>C (p.Leu283Pro) n.1020T>C n.532T>C n.414T>C c.992T>C (p.Leu331Pro) c.-4294965980T>C c.866T>C (p.Leu289Pro) c.794T>C (p.Leu265Pro) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962148T>G | CA369585409 | TBXAS1 | c.1049T>G (p.Leu350Arg) c.*838T>G (n.*838T>G) c.1187T>G (p.Leu396Arg) c.1052T>G (p.Leu351Arg) c.1190T>G (p.Leu397Arg) c.848T>G (p.Leu283Arg) n.1020T>G n.532T>G n.414T>G c.992T>G (p.Leu331Arg) c.-4294965980T>G c.866T>G (p.Leu289Arg) c.794T>G (p.Leu265Arg) | |
7 | g.139962148T= | CA1747341126 | TBXAS1 | c.1049T= (p.Leu350=) c.*838T= (n.*838T=) c.1187T= (p.Leu396=) c.1052T= (p.Leu351=) c.1190T= (p.Leu397=) c.848T= (p.Leu283=) n.1020T= n.532T= n.414T= c.992T= (p.Leu331=) c.-4294965980T= c.866T= (p.Leu289=) c.794T= (p.Leu265=) | |
7 | g.139962149T>A | CA458115545 | TBXAS1 | c.1050T>A (p.Leu350=) c.*839T>A (n.*839T>A) c.1188T>A (p.Leu396=) c.1053T>A (p.Leu351=) c.1191T>A (p.Leu397=) c.849T>A (p.Leu283=) n.1021T>A n.533T>A n.415T>A c.993T>A (p.Leu331=) c.-4294965979T>A c.867T>A (p.Leu289=) c.795T>A (p.Leu265=) | |
7 | g.139962149T>C | CA458115546 | TBXAS1 | c.1050T>C (p.Leu350=) c.*839T>C (n.*839T>C) c.1188T>C (p.Leu396=) c.1053T>C (p.Leu351=) c.1191T>C (p.Leu397=) c.849T>C (p.Leu283=) n.1021T>C n.533T>C n.415T>C c.993T>C (p.Leu331=) c.-4294965979T>C c.867T>C (p.Leu289=) c.795T>C (p.Leu265=) | |
7 | g.139962149T>G | CA458115547 | TBXAS1 | c.1050T>G (p.Leu350=) c.*839T>G (n.*839T>G) c.1188T>G (p.Leu396=) c.1053T>G (p.Leu351=) c.1191T>G (p.Leu397=) c.849T>G (p.Leu283=) n.1021T>G n.533T>G n.415T>G c.993T>G (p.Leu331=) c.-4294965979T>G c.867T>G (p.Leu289=) c.795T>G (p.Leu265=) | |
7 | g.139962150T>A | CA369585413 | TBXAS1 | c.1051T>A (p.Ser351Thr) c.*840T>A (n.*840T>A) c.1189T>A (p.Ser397Thr) c.1054T>A (p.Ser352Thr) c.1192T>A (p.Ser398Thr) c.850T>A (p.Ser284Thr) n.1022T>A n.534T>A n.416T>A c.994T>A (p.Ser332Thr) c.-4294965978T>A c.868T>A (p.Ser290Thr) c.796T>A (p.Ser266Thr) | |
7 | g.139962150T>C | CA369585414 | TBXAS1 | c.1051T>C (p.Ser351Pro) c.*840T>C (n.*840T>C) c.1189T>C (p.Ser397Pro) c.1054T>C (p.Ser352Pro) c.1192T>C (p.Ser398Pro) c.850T>C (p.Ser284Pro) n.1022T>C n.534T>C n.416T>C c.994T>C (p.Ser332Pro) c.-4294965978T>C c.868T>C (p.Ser290Pro) c.796T>C (p.Ser266Pro) | dbSNP |
7 | g.139962150T>G | CA369585416 | TBXAS1 | c.1051T>G (p.Ser351Ala) c.*840T>G (n.*840T>G) c.1189T>G (p.Ser397Ala) c.1054T>G (p.Ser352Ala) c.1192T>G (p.Ser398Ala) c.850T>G (p.Ser284Ala) n.1022T>G n.534T>G n.416T>G c.994T>G (p.Ser332Ala) c.-4294965978T>G c.868T>G (p.Ser290Ala) c.796T>G (p.Ser266Ala) | |
7 | g.139962150T= | CA1747341127 | TBXAS1 | c.1051T= (p.Ser351=) c.*840T= (n.*840T=) c.1189T= (p.Ser397=) c.1054T= (p.Ser352=) c.1192T= (p.Ser398=) c.850T= (p.Ser284=) n.1022T= n.534T= n.416T= c.994T= (p.Ser332=) c.-4294965978T= c.868T= (p.Ser290=) c.796T= (p.Ser266=) | |
7 | g.139962151C>A | CA369585424 | TBXAS1 | c.1052C>A (p.Ser351Tyr) c.*841C>A (n.*841C>A) c.1190C>A (p.Ser397Tyr) c.1055C>A (p.Ser352Tyr) c.1193C>A (p.Ser398Tyr) c.851C>A (p.Ser284Tyr) n.1023C>A n.535C>A n.417C>A c.995C>A (p.Ser332Tyr) c.-4294965977C>A c.869C>A (p.Ser290Tyr) c.797C>A (p.Ser266Tyr) | gnomAD v4 |
7 | g.139962151C>G | CA369585421 | TBXAS1 | c.1052C>G (p.Ser351Cys) c.*841C>G (n.*841C>G) c.1190C>G (p.Ser397Cys) c.1055C>G (p.Ser352Cys) c.1193C>G (p.Ser398Cys) c.851C>G (p.Ser284Cys) n.1023C>G n.535C>G n.417C>G c.995C>G (p.Ser332Cys) c.-4294965977C>G c.869C>G (p.Ser290Cys) c.797C>G (p.Ser266Cys) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962151C>T | CA369585420 | TBXAS1 | c.1052C>T (p.Ser351Phe) c.*841C>T (n.*841C>T) c.1190C>T (p.Ser397Phe) c.1055C>T (p.Ser352Phe) c.1193C>T (p.Ser398Phe) c.851C>T (p.Ser284Phe) n.1023C>T n.535C>T n.417C>T c.995C>T (p.Ser332Phe) c.-4294965977C>T c.869C>T (p.Ser290Phe) c.797C>T (p.Ser266Phe) | |
7 | g.139962152T>A | CA458115550 | TBXAS1 | c.1053T>A (p.Ser351=) c.*842T>A (n.*842T>A) c.1191T>A (p.Ser397=) c.1056T>A (p.Ser352=) c.1194T>A (p.Ser398=) c.852T>A (p.Ser284=) n.1024T>A n.536T>A n.418T>A c.996T>A (p.Ser332=) c.-4294965976T>A c.870T>A (p.Ser290=) c.798T>A (p.Ser266=) | |
7 | g.139962152T>C | CA458115551 | TBXAS1 | c.1053T>C (p.Ser351=) c.*842T>C (n.*842T>C) c.1191T>C (p.Ser397=) c.1056T>C (p.Ser352=) c.1194T>C (p.Ser398=) c.852T>C (p.Ser284=) n.1024T>C n.536T>C n.418T>C c.996T>C (p.Ser332=) c.-4294965976T>C c.870T>C (p.Ser290=) c.798T>C (p.Ser266=) | |
7 | g.139962152T>G | CA458115552 | TBXAS1 | c.1053T>G (p.Ser351=) c.*842T>G (n.*842T>G) c.1191T>G (p.Ser397=) c.1056T>G (p.Ser352=) c.1194T>G (p.Ser398=) c.852T>G (p.Ser284=) n.1024T>G n.536T>G n.418T>G c.996T>G (p.Ser332=) c.-4294965976T>G c.870T>G (p.Ser290=) c.798T>G (p.Ser266=) | |
7 | g.139962153T>A | CA369585427 | TBXAS1 | c.1054T>A (p.Phe352Ile) c.*843T>A (n.*843T>A) c.1192T>A (p.Phe398Ile) c.1057T>A (p.Phe353Ile) c.1195T>A (p.Phe399Ile) c.853T>A (p.Phe285Ile) n.1025T>A n.537T>A n.419T>A c.997T>A (p.Phe333Ile) c.-4294965975T>A c.871T>A (p.Phe291Ile) c.799T>A (p.Phe267Ile) | gnomAD v4 |
7 | g.139962153T>C | CA369585430 | TBXAS1 | c.1054T>C (p.Phe352Leu) c.*843T>C (n.*843T>C) c.1192T>C (p.Phe398Leu) c.1057T>C (p.Phe353Leu) c.1195T>C (p.Phe399Leu) c.853T>C (p.Phe285Leu) n.1025T>C n.537T>C n.419T>C c.997T>C (p.Phe333Leu) c.-4294965975T>C c.871T>C (p.Phe291Leu) c.799T>C (p.Phe267Leu) | |
7 | g.139962153T>G | CA369585432 | TBXAS1 | c.1054T>G (p.Phe352Val) c.*843T>G (n.*843T>G) c.1192T>G (p.Phe398Val) c.1057T>G (p.Phe353Val) c.1195T>G (p.Phe399Val) c.853T>G (p.Phe285Val) n.1025T>G n.537T>G n.419T>G c.997T>G (p.Phe333Val) c.-4294965975T>G c.871T>G (p.Phe291Val) c.799T>G (p.Phe267Val) | |
7 | g.139962154T>A | CA369585436 | TBXAS1 | c.1055T>A (p.Phe352Tyr) c.*844T>A (n.*844T>A) c.1193T>A (p.Phe398Tyr) c.1058T>A (p.Phe353Tyr) c.1196T>A (p.Phe399Tyr) c.854T>A (p.Phe285Tyr) n.1026T>A n.538T>A n.420T>A c.998T>A (p.Phe333Tyr) c.-4294965974T>A c.872T>A (p.Phe291Tyr) c.800T>A (p.Phe267Tyr) | |
7 | g.139962154T>C | CA369585439 | TBXAS1 | c.1055T>C (p.Phe352Ser) c.*844T>C (n.*844T>C) c.1193T>C (p.Phe398Ser) c.1058T>C (p.Phe353Ser) c.1196T>C (p.Phe399Ser) c.854T>C (p.Phe285Ser) n.1026T>C n.538T>C n.420T>C c.998T>C (p.Phe333Ser) c.-4294965974T>C c.872T>C (p.Phe291Ser) c.800T>C (p.Phe267Ser) | |
7 | g.139962154T>G | CA369585441 | TBXAS1 | c.1055T>G (p.Phe352Cys) c.*844T>G (n.*844T>G) c.1193T>G (p.Phe398Cys) c.1058T>G (p.Phe353Cys) c.1196T>G (p.Phe399Cys) c.854T>G (p.Phe285Cys) n.1026T>G n.538T>G n.420T>G c.998T>G (p.Phe333Cys) c.-4294965974T>G c.872T>G (p.Phe291Cys) c.800T>G (p.Phe267Cys) | |
7 | g.139962155T>A | CA369585445 | TBXAS1 | c.1056T>A (p.Phe352Leu) c.*845T>A (n.*845T>A) c.1194T>A (p.Phe398Leu) c.1059T>A (p.Phe353Leu) c.1197T>A (p.Phe399Leu) c.855T>A (p.Phe285Leu) n.1027T>A n.539T>A n.421T>A c.999T>A (p.Phe333Leu) c.-4294965973T>A c.873T>A (p.Phe291Leu) c.801T>A (p.Phe267Leu) | |
7 | g.139962155T>C | CA458115555 | TBXAS1 | c.1056T>C (p.Phe352=) c.*845T>C (n.*845T>C) c.1194T>C (p.Phe398=) c.1059T>C (p.Phe353=) c.1197T>C (p.Phe399=) c.855T>C (p.Phe285=) n.1027T>C n.539T>C n.421T>C c.999T>C (p.Phe333=) c.-4294965973T>C c.873T>C (p.Phe291=) c.801T>C (p.Phe267=) | |
7 | g.139962155T>G | CA369585447 | TBXAS1 | c.1056T>G (p.Phe352Leu) c.*845T>G (n.*845T>G) c.1194T>G (p.Phe398Leu) c.1059T>G (p.Phe353Leu) c.1197T>G (p.Phe399Leu) c.855T>G (p.Phe285Leu) n.1027T>G n.539T>G n.421T>G c.999T>G (p.Phe333Leu) c.-4294965973T>G c.873T>G (p.Phe291Leu) c.801T>G (p.Phe267Leu) | |
7 | g.139962156G>A | CA369585450 | TBXAS1 | c.1057G>A (p.Ala353Thr) c.*846G>A (n.*846G>A) c.1195G>A (p.Ala399Thr) c.1060G>A (p.Ala354Thr) c.1198G>A (p.Ala400Thr) c.856G>A (p.Ala286Thr) n.1028G>A n.540G>A n.422G>A c.1000G>A (p.Ala334Thr) c.-4294965972G>A c.874G>A (p.Ala292Thr) c.802G>A (p.Ala268Thr) | |
7 | g.139962156G>C | CA369585453 | TBXAS1 | c.1057G>C (p.Ala353Pro) c.*846G>C (n.*846G>C) c.1195G>C (p.Ala399Pro) c.1060G>C (p.Ala354Pro) c.1198G>C (p.Ala400Pro) c.856G>C (p.Ala286Pro) n.1028G>C n.540G>C n.422G>C c.1000G>C (p.Ala334Pro) c.-4294965972G>C c.874G>C (p.Ala292Pro) c.802G>C (p.Ala268Pro) | |
7 | g.139962156G= | CA1747341128 | TBXAS1 | c.1057G= (p.Ala353=) c.*846G= (n.*846G=) c.1195G= (p.Ala399=) c.1060G= (p.Ala354=) c.1198G= (p.Ala400=) c.856G= (p.Ala286=) n.1028G= n.540G= n.422G= c.1000G= (p.Ala334=) c.-4294965972G= c.874G= (p.Ala292=) c.802G= (p.Ala268=) | |
7 | g.139962156G>T | CA4511875 | TBXAS1 | c.1057G>T (p.Ala353Ser) c.*846G>T (n.*846G>T) c.1195G>T (p.Ala399Ser) c.1060G>T (p.Ala354Ser) c.1198G>T (p.Ala400Ser) c.856G>T (p.Ala286Ser) n.1028G>T n.540G>T n.422G>T c.1000G>T (p.Ala334Ser) c.-4294965972G>T c.874G>T (p.Ala292Ser) c.802G>T (p.Ala268Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962157C>A | CA369585461 | TBXAS1 | c.1058C>A (p.Ala353Asp) c.*847C>A (n.*847C>A) c.1196C>A (p.Ala399Asp) c.1061C>A (p.Ala354Asp) c.1199C>A (p.Ala400Asp) c.857C>A (p.Ala286Asp) n.1029C>A n.541C>A n.423C>A c.1001C>A (p.Ala334Asp) c.-4294965971C>A c.875C>A (p.Ala292Asp) c.803C>A (p.Ala268Asp) | |
7 | g.139962157C>G | CA369585462 | TBXAS1 | c.1058C>G (p.Ala353Gly) c.*847C>G (n.*847C>G) c.1196C>G (p.Ala399Gly) c.1061C>G (p.Ala354Gly) c.1199C>G (p.Ala400Gly) c.857C>G (p.Ala286Gly) n.1029C>G n.541C>G n.423C>G c.1001C>G (p.Ala334Gly) c.-4294965971C>G c.875C>G (p.Ala292Gly) c.803C>G (p.Ala268Gly) | |
7 | g.139962157C>T | CA369585459 | TBXAS1 | c.1058C>T (p.Ala353Val) c.*847C>T (n.*847C>T) c.1196C>T (p.Ala399Val) c.1061C>T (p.Ala354Val) c.1199C>T (p.Ala400Val) c.857C>T (p.Ala286Val) n.1029C>T n.541C>T n.423C>T c.1001C>T (p.Ala334Val) c.-4294965971C>T c.875C>T (p.Ala292Val) c.803C>T (p.Ala268Val) | |
7 | g.139962158C>A | CA458115556 | TBXAS1 | c.1059C>A (p.Ala353=) c.*848C>A (n.*848C>A) c.1197C>A (p.Ala399=) c.1062C>A (p.Ala354=) c.1200C>A (p.Ala400=) c.858C>A (p.Ala286=) n.1030C>A n.542C>A n.424C>A c.1002C>A (p.Ala334=) c.-4294965970C>A c.876C>A (p.Ala292=) c.804C>A (p.Ala268=) | |
7 | g.139962158C= | CA1747341129 | TBXAS1 | c.1059C= (p.Ala353=) c.*848C= (n.*848C=) c.1197C= (p.Ala399=) c.1062C= (p.Ala354=) c.1200C= (p.Ala400=) c.858C= (p.Ala286=) n.1030C= n.542C= n.424C= c.1002C= (p.Ala334=) c.-4294965970C= c.876C= (p.Ala292=) c.804C= (p.Ala268=) | |
7 | g.139962158C>G | CA458115557 | TBXAS1 | c.1059C>G (p.Ala353=) c.*848C>G (n.*848C>G) c.1197C>G (p.Ala399=) c.1062C>G (p.Ala354=) c.1200C>G (p.Ala400=) c.858C>G (p.Ala286=) n.1030C>G n.542C>G n.424C>G c.1002C>G (p.Ala334=) c.-4294965970C>G c.876C>G (p.Ala292=) c.804C>G (p.Ala268=) | |
7 | g.139962158C>T | CA458115558 | TBXAS1 | c.1059C>T (p.Ala353=) c.*848C>T (n.*848C>T) c.1197C>T (p.Ala399=) c.1062C>T (p.Ala354=) c.1200C>T (p.Ala400=) c.858C>T (p.Ala286=) n.1030C>T n.542C>T n.424C>T c.1002C>T (p.Ala334=) c.-4294965970C>T c.876C>T (p.Ala292=) c.804C>T (p.Ala268=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962159A>C | CA369585463 | TBXAS1 | c.1060A>C (p.Thr354Pro) c.*849A>C (n.*849A>C) c.1198A>C (p.Thr400Pro) c.1063A>C (p.Thr355Pro) c.1201A>C (p.Thr401Pro) c.859A>C (p.Thr287Pro) n.1031A>C n.543A>C n.425A>C c.1003A>C (p.Thr335Pro) c.-4294965969A>C c.877A>C (p.Thr293Pro) c.805A>C (p.Thr269Pro) | |
7 | g.139962159A>G | CA369585464 | TBXAS1 | c.1060A>G (p.Thr354Ala) c.*849A>G (n.*849A>G) c.1198A>G (p.Thr400Ala) c.1063A>G (p.Thr355Ala) c.1201A>G (p.Thr401Ala) c.859A>G (p.Thr287Ala) n.1031A>G n.543A>G n.425A>G c.1003A>G (p.Thr335Ala) c.-4294965969A>G c.877A>G (p.Thr293Ala) c.805A>G (p.Thr269Ala) | |
7 | g.139962159A>T | CA369585465 | TBXAS1 | c.1060A>T (p.Thr354Ser) c.*849A>T (n.*849A>T) c.1198A>T (p.Thr400Ser) c.1063A>T (p.Thr355Ser) c.1201A>T (p.Thr401Ser) c.859A>T (p.Thr287Ser) n.1031A>T n.543A>T n.425A>T c.1003A>T (p.Thr335Ser) c.-4294965969A>T c.877A>T (p.Thr293Ser) c.805A>T (p.Thr269Ser) | |
7 | g.139962165_139962168del | CA2579039960 | TBXAS1 | c.1066_1069del (p.Leu356TrpfsTer12) c.*855_*858del (n.*855_*858del) c.1204_1207del (p.Leu402TrpfsTer12) c.1069_1072del (p.Leu357TrpfsTer12) c.1207_1210del (p.Leu403TrpfsTer12) c.865_868del (p.Leu289TrpfsTer12) n.1037_1040del n.549_552del n.431_434del c.1009_1012del (p.Leu337TrpfsTer12) c.-4294965963_-4294965960del c.883_886del (p.Leu295TrpfsTer12) c.811_814del (p.Leu271TrpfsTer12) | |
7 | g.139962160C>A | CA369585466 | TBXAS1 | c.1061C>A (p.Thr354Asn) c.*850C>A (n.*850C>A) c.1199C>A (p.Thr400Asn) c.1064C>A (p.Thr355Asn) c.1202C>A (p.Thr401Asn) c.860C>A (p.Thr287Asn) n.1032C>A n.544C>A n.426C>A c.1004C>A (p.Thr335Asn) c.-4294965968C>A c.878C>A (p.Thr293Asn) c.806C>A (p.Thr269Asn) | |
7 | g.139962160C= | CA1747341130 | TBXAS1 | c.1061C= (p.Thr354=) c.*850C= (n.*850C=) c.1199C= (p.Thr400=) c.1064C= (p.Thr355=) c.1202C= (p.Thr401=) c.860C= (p.Thr287=) n.1032C= n.544C= n.426C= c.1004C= (p.Thr335=) c.-4294965968C= c.878C= (p.Thr293=) c.806C= (p.Thr269=) | |
7 | g.139962160C>G | CA4511876 | TBXAS1 | c.1061C>G (p.Thr354Ser) c.*850C>G (n.*850C>G) c.1199C>G (p.Thr400Ser) c.1064C>G (p.Thr355Ser) c.1202C>G (p.Thr401Ser) c.860C>G (p.Thr287Ser) n.1032C>G n.544C>G n.426C>G c.1004C>G (p.Thr335Ser) c.-4294965968C>G c.878C>G (p.Thr293Ser) c.806C>G (p.Thr269Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962160C>T | CA369585467 | TBXAS1 | c.1061C>T (p.Thr354Ile) c.*850C>T (n.*850C>T) c.1199C>T (p.Thr400Ile) c.1064C>T (p.Thr355Ile) c.1202C>T (p.Thr401Ile) c.860C>T (p.Thr287Ile) n.1032C>T n.544C>T n.426C>T c.1004C>T (p.Thr335Ile) c.-4294965968C>T c.878C>T (p.Thr293Ile) c.806C>T (p.Thr269Ile) | |
7 | g.139962161C>A | CA458115560 | TBXAS1 | c.1062C>A (p.Thr354=) c.*851C>A (n.*851C>A) c.1200C>A (p.Thr400=) c.1065C>A (p.Thr355=) c.1203C>A (p.Thr401=) c.861C>A (p.Thr287=) n.1033C>A n.545C>A n.427C>A c.1005C>A (p.Thr335=) c.-4294965967C>A c.879C>A (p.Thr293=) c.807C>A (p.Thr269=) | |
7 | g.139962161C>G | CA458115561 | TBXAS1 | c.1062C>G (p.Thr354=) c.*851C>G (n.*851C>G) c.1200C>G (p.Thr400=) c.1065C>G (p.Thr355=) c.1203C>G (p.Thr401=) c.861C>G (p.Thr287=) n.1033C>G n.545C>G n.427C>G c.1005C>G (p.Thr335=) c.-4294965967C>G c.879C>G (p.Thr293=) c.807C>G (p.Thr269=) | |
7 | g.139962161C>T | CA458115562 | TBXAS1 | c.1062C>T (p.Thr354=) c.*851C>T (n.*851C>T) c.1200C>T (p.Thr400=) c.1065C>T (p.Thr355=) c.1203C>T (p.Thr401=) c.861C>T (p.Thr287=) n.1033C>T n.545C>T n.427C>T c.1005C>T (p.Thr335=) c.-4294965967C>T c.879C>T (p.Thr293=) c.807C>T (p.Thr269=) | |
7 | g.139962162T>A | CA369585468 | TBXAS1 | c.1063T>A (p.Tyr355Asn) c.*852T>A (n.*852T>A) c.1201T>A (p.Tyr401Asn) c.1066T>A (p.Tyr356Asn) c.1204T>A (p.Tyr402Asn) c.862T>A (p.Tyr288Asn) n.1034T>A n.546T>A n.428T>A c.1006T>A (p.Tyr336Asn) c.-4294965966T>A c.880T>A (p.Tyr294Asn) c.808T>A (p.Tyr270Asn) | |
7 | g.139962162T>C | CA4511877 | TBXAS1 | c.1063T>C (p.Tyr355His) c.*852T>C (n.*852T>C) c.1201T>C (p.Tyr401His) c.1066T>C (p.Tyr356His) c.1204T>C (p.Tyr402His) c.862T>C (p.Tyr288His) n.1034T>C n.546T>C n.428T>C c.1006T>C (p.Tyr336His) c.-4294965966T>C c.880T>C (p.Tyr294His) c.808T>C (p.Tyr270His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962162T>G | CA369585469 | TBXAS1 | c.1063T>G (p.Tyr355Asp) c.*852T>G (n.*852T>G) c.1201T>G (p.Tyr401Asp) c.1066T>G (p.Tyr356Asp) c.1204T>G (p.Tyr402Asp) c.862T>G (p.Tyr288Asp) n.1034T>G n.546T>G n.428T>G c.1006T>G (p.Tyr336Asp) c.-4294965966T>G c.880T>G (p.Tyr294Asp) c.808T>G (p.Tyr270Asp) | |
7 | g.139962162T= | CA1747341131 | TBXAS1 | c.1063T= (p.Tyr355=) c.*852T= (n.*852T=) c.1201T= (p.Tyr401=) c.1066T= (p.Tyr356=) c.1204T= (p.Tyr402=) c.862T= (p.Tyr288=) n.1034T= n.546T= n.428T= c.1006T= (p.Tyr336=) c.-4294965966T= c.880T= (p.Tyr294=) c.808T= (p.Tyr270=) | |
7 | g.139962163A>C | CA369585470 | TBXAS1 | c.1064A>C (p.Tyr355Ser) c.*853A>C (n.*853A>C) c.1202A>C (p.Tyr401Ser) c.1067A>C (p.Tyr356Ser) c.1205A>C (p.Tyr402Ser) c.863A>C (p.Tyr288Ser) n.1035A>C n.547A>C n.429A>C c.1007A>C (p.Tyr336Ser) c.-4294965965A>C c.881A>C (p.Tyr294Ser) c.809A>C (p.Tyr270Ser) | |
7 | g.139962163A>G | CA369585471 | TBXAS1 | c.1064A>G (p.Tyr355Cys) c.*853A>G (n.*853A>G) c.1202A>G (p.Tyr401Cys) c.1067A>G (p.Tyr356Cys) c.1205A>G (p.Tyr402Cys) c.863A>G (p.Tyr288Cys) n.1035A>G n.547A>G n.429A>G c.1007A>G (p.Tyr336Cys) c.-4294965965A>G c.881A>G (p.Tyr294Cys) c.809A>G (p.Tyr270Cys) | COSMIC |
7 | g.139962163A>T | CA369585472 | TBXAS1 | c.1064A>T (p.Tyr355Phe) c.*853A>T (n.*853A>T) c.1202A>T (p.Tyr401Phe) c.1067A>T (p.Tyr356Phe) c.1205A>T (p.Tyr402Phe) c.863A>T (p.Tyr288Phe) n.1035A>T n.547A>T n.429A>T c.1007A>T (p.Tyr336Phe) c.-4294965965A>T c.881A>T (p.Tyr294Phe) c.809A>T (p.Tyr270Phe) | |
7 | g.139962164C>A | CA369585474 | TBXAS1 | c.1065C>A (p.Tyr355Ter) c.*854C>A (n.*854C>A) c.1203C>A (p.Tyr401Ter) c.1068C>A (p.Tyr356Ter) c.1206C>A (p.Tyr402Ter) c.864C>A (p.Tyr288Ter) n.1036C>A n.548C>A n.430C>A c.1008C>A (p.Tyr336Ter) c.-4294965964C>A c.882C>A (p.Tyr294Ter) c.810C>A (p.Tyr270Ter) | |
7 | g.139962164C>G | CA369585473 | TBXAS1 | c.1065C>G (p.Tyr355Ter) c.*854C>G (n.*854C>G) c.1203C>G (p.Tyr401Ter) c.1068C>G (p.Tyr356Ter) c.1206C>G (p.Tyr402Ter) c.864C>G (p.Tyr288Ter) n.1036C>G n.548C>G n.430C>G c.1008C>G (p.Tyr336Ter) c.-4294965964C>G c.882C>G (p.Tyr294Ter) c.810C>G (p.Tyr270Ter) | |
7 | g.139962164C>T | CA458115564 | TBXAS1 | c.1065C>T (p.Tyr355=) c.*854C>T (n.*854C>T) c.1203C>T (p.Tyr401=) c.1068C>T (p.Tyr356=) c.1206C>T (p.Tyr402=) c.864C>T (p.Tyr288=) n.1036C>T n.548C>T n.430C>T c.1008C>T (p.Tyr336=) c.-4294965964C>T c.882C>T (p.Tyr294=) c.810C>T (p.Tyr270=) | |
7 | g.139962165C>A | CA369585475 | TBXAS1 | c.1066C>A (p.Leu356Ile) c.*855C>A (n.*855C>A) c.1204C>A (p.Leu402Ile) c.1069C>A (p.Leu357Ile) c.1207C>A (p.Leu403Ile) c.865C>A (p.Leu289Ile) n.1037C>A n.549C>A n.431C>A c.1009C>A (p.Leu337Ile) c.-4294965963C>A c.883C>A (p.Leu295Ile) c.811C>A (p.Leu271Ile) | gnomAD v4 |
7 | g.139962165C= | CA1747341132 | TBXAS1 | c.1066C= (p.Leu356=) c.*855C= (n.*855C=) c.1204C= (p.Leu402=) c.1069C= (p.Leu357=) c.1207C= (p.Leu403=) c.865C= (p.Leu289=) n.1037C= n.549C= n.431C= c.1009C= (p.Leu337=) c.-4294965963C= c.883C= (p.Leu295=) c.811C= (p.Leu271=) | |
7 | g.139962165C>G | CA4511878 | TBXAS1 | c.1066C>G (p.Leu356Val) c.*855C>G (n.*855C>G) c.1204C>G (p.Leu402Val) c.1069C>G (p.Leu357Val) c.1207C>G (p.Leu403Val) c.865C>G (p.Leu289Val) n.1037C>G n.549C>G n.431C>G c.1009C>G (p.Leu337Val) c.-4294965963C>G c.883C>G (p.Leu295Val) c.811C>G (p.Leu271Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962165C>T | CA4511879 | TBXAS1 | c.1066C>T (p.Leu356=) c.*855C>T (n.*855C>T) c.1204C>T (p.Leu402=) c.1069C>T (p.Leu357=) c.1207C>T (p.Leu403=) c.865C>T (p.Leu289=) n.1037C>T n.549C>T n.431C>T c.1009C>T (p.Leu337=) c.-4294965963C>T c.883C>T (p.Leu295=) c.811C>T (p.Leu271=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962166T>A | CA369585476 | TBXAS1 | c.1067T>A (p.Leu356Gln) c.*856T>A (n.*856T>A) c.1205T>A (p.Leu402Gln) c.1070T>A (p.Leu357Gln) c.1208T>A (p.Leu403Gln) c.866T>A (p.Leu289Gln) n.1038T>A n.550T>A n.432T>A c.1010T>A (p.Leu337Gln) c.-4294965962T>A c.884T>A (p.Leu295Gln) c.812T>A (p.Leu271Gln) | |
7 | g.139962166T>C | CA369585477 | TBXAS1 | c.1067T>C (p.Leu356Pro) c.*856T>C (n.*856T>C) c.1205T>C (p.Leu402Pro) c.1070T>C (p.Leu357Pro) c.1208T>C (p.Leu403Pro) c.866T>C (p.Leu289Pro) n.1038T>C n.550T>C n.432T>C c.1010T>C (p.Leu337Pro) c.-4294965962T>C c.884T>C (p.Leu295Pro) c.812T>C (p.Leu271Pro) | |
7 | g.139962166T>G | CA369585478 | TBXAS1 | c.1067T>G (p.Leu356Arg) c.*856T>G (n.*856T>G) c.1205T>G (p.Leu402Arg) c.1070T>G (p.Leu357Arg) c.1208T>G (p.Leu403Arg) c.866T>G (p.Leu289Arg) n.1038T>G n.550T>G n.432T>G c.1010T>G (p.Leu337Arg) c.-4294965962T>G c.884T>G (p.Leu295Arg) c.812T>G (p.Leu271Arg) | |
7 | g.139962167A>C | CA458115567 | TBXAS1 | c.1068A>C (p.Leu356=) c.*857A>C (n.*857A>C) c.1206A>C (p.Leu402=) c.1071A>C (p.Leu357=) c.1209A>C (p.Leu403=) c.867A>C (p.Leu289=) n.1039A>C n.551A>C n.433A>C c.1011A>C (p.Leu337=) c.-4294965961A>C c.885A>C (p.Leu295=) c.813A>C (p.Leu271=) | |
7 | g.139962167A>G | CA458115566 | TBXAS1 | c.1068A>G (p.Leu356=) c.*857A>G (n.*857A>G) c.1206A>G (p.Leu402=) c.1071A>G (p.Leu357=) c.1209A>G (p.Leu403=) c.867A>G (p.Leu289=) n.1039A>G n.551A>G n.433A>G c.1011A>G (p.Leu337=) c.-4294965961A>G c.885A>G (p.Leu295=) c.813A>G (p.Leu271=) | |
7 | g.139962167A>T | CA458115565 | TBXAS1 | c.1068A>T (p.Leu356=) c.*857A>T (n.*857A>T) c.1206A>T (p.Leu402=) c.1071A>T (p.Leu357=) c.1209A>T (p.Leu403=) c.867A>T (p.Leu289=) n.1039A>T n.551A>T n.433A>T c.1011A>T (p.Leu337=) c.-4294965961A>T c.885A>T (p.Leu295=) c.813A>T (p.Leu271=) | |
7 | g.139962168C>A | CA369585479 | TBXAS1 | c.1069C>A (p.Leu357Met) c.*858C>A (n.*858C>A) c.1207C>A (p.Leu403Met) c.1072C>A (p.Leu358Met) c.1210C>A (p.Leu404Met) c.868C>A (p.Leu290Met) n.1040C>A n.552C>A n.434C>A c.1012C>A (p.Leu338Met) c.-4294965960C>A c.886C>A (p.Leu296Met) c.814C>A (p.Leu272Met) | |
7 | g.139962168C>G | CA369585480 | TBXAS1 | c.1069C>G (p.Leu357Val) c.*858C>G (n.*858C>G) c.1207C>G (p.Leu403Val) c.1072C>G (p.Leu358Val) c.1210C>G (p.Leu404Val) c.868C>G (p.Leu290Val) n.1040C>G n.552C>G n.434C>G c.1012C>G (p.Leu338Val) c.-4294965960C>G c.886C>G (p.Leu296Val) c.814C>G (p.Leu272Val) | gnomAD v4 |
7 | g.139962168C>T | CA458115568 | TBXAS1 | c.1069C>T (p.Leu357=) c.*858C>T (n.*858C>T) c.1207C>T (p.Leu403=) c.1072C>T (p.Leu358=) c.1210C>T (p.Leu404=) c.868C>T (p.Leu290=) n.1040C>T n.552C>T n.434C>T c.1012C>T (p.Leu338=) c.-4294965960C>T c.886C>T (p.Leu296=) c.814C>T (p.Leu272=) | |
7 | g.139962169T>A | CA369585481 | TBXAS1 | c.1070T>A (p.Leu357Gln) c.*859T>A (n.*859T>A) c.1208T>A (p.Leu403Gln) c.1073T>A (p.Leu358Gln) c.1211T>A (p.Leu404Gln) c.869T>A (p.Leu290Gln) n.1041T>A n.553T>A n.435T>A c.1013T>A (p.Leu338Gln) c.-4294965959T>A c.887T>A (p.Leu296Gln) c.815T>A (p.Leu272Gln) | |
7 | g.139962169T>C | CA369585482 | TBXAS1 | c.1070T>C (p.Leu357Pro) c.*859T>C (n.*859T>C) c.1208T>C (p.Leu403Pro) c.1073T>C (p.Leu358Pro) c.1211T>C (p.Leu404Pro) c.869T>C (p.Leu290Pro) n.1041T>C n.553T>C n.435T>C c.1013T>C (p.Leu338Pro) c.-4294965959T>C c.887T>C (p.Leu296Pro) c.815T>C (p.Leu272Pro) | |
7 | g.139962169T>G | CA369585483 | TBXAS1 | c.1070T>G (p.Leu357Arg) c.*859T>G (n.*859T>G) c.1208T>G (p.Leu403Arg) c.1073T>G (p.Leu358Arg) c.1211T>G (p.Leu404Arg) c.869T>G (p.Leu290Arg) n.1041T>G n.553T>G n.435T>G c.1013T>G (p.Leu338Arg) c.-4294965959T>G c.887T>G (p.Leu296Arg) c.815T>G (p.Leu272Arg) | gnomAD v4 |
7 | g.139962170G>A | CA458115569 | TBXAS1 | c.1071G>A (p.Leu357=) c.*860G>A (n.*860G>A) c.1209G>A (p.Leu403=) c.1074G>A (p.Leu358=) c.1212G>A (p.Leu404=) c.870G>A (p.Leu290=) n.1042G>A n.554G>A n.436G>A c.1014G>A (p.Leu338=) c.-4294965958G>A c.888G>A (p.Leu296=) c.816G>A (p.Leu272=) | |
7 | g.139962170G>C | CA458115570 | TBXAS1 | c.1071G>C (p.Leu357=) c.*860G>C (n.*860G>C) c.1209G>C (p.Leu403=) c.1074G>C (p.Leu358=) c.1212G>C (p.Leu404=) c.870G>C (p.Leu290=) n.1042G>C n.554G>C n.436G>C c.1014G>C (p.Leu338=) c.-4294965958G>C c.888G>C (p.Leu296=) c.816G>C (p.Leu272=) | gnomAD v4 |
7 | g.139962170G>T | CA458115571 | TBXAS1 | c.1071G>T (p.Leu357=) c.*860G>T (n.*860G>T) c.1209G>T (p.Leu403=) c.1074G>T (p.Leu358=) c.1212G>T (p.Leu404=) c.870G>T (p.Leu290=) n.1042G>T n.554G>T n.436G>T c.1014G>T (p.Leu338=) c.-4294965958G>T c.888G>T (p.Leu296=) c.816G>T (p.Leu272=) | |
7 | g.139962171G>A | CA369585484 | TBXAS1 | c.1072G>A (p.Ala358Thr) c.*861G>A (n.*861G>A) c.1210G>A (p.Ala404Thr) c.1075G>A (p.Ala359Thr) c.1213G>A (p.Ala405Thr) c.871G>A (p.Ala291Thr) n.1043G>A n.555G>A n.437G>A c.1015G>A (p.Ala339Thr) c.-4294965957G>A c.889G>A (p.Ala297Thr) c.817G>A (p.Ala273Thr) | |
7 | g.139962171G>C | CA369585485 | TBXAS1 | c.1072G>C (p.Ala358Pro) c.*861G>C (n.*861G>C) c.1210G>C (p.Ala404Pro) c.1075G>C (p.Ala359Pro) c.1213G>C (p.Ala405Pro) c.871G>C (p.Ala291Pro) n.1043G>C n.555G>C n.437G>C c.1015G>C (p.Ala339Pro) c.-4294965957G>C c.889G>C (p.Ala297Pro) c.817G>C (p.Ala273Pro) | |
7 | g.139962171G= | CA1747341133 | TBXAS1 | c.1072G= (p.Ala358=) c.*861G= (n.*861G=) c.1210G= (p.Ala404=) c.1075G= (p.Ala359=) c.1213G= (p.Ala405=) c.871G= (p.Ala291=) n.1043G= n.555G= n.437G= c.1015G= (p.Ala339=) c.-4294965957G= c.889G= (p.Ala297=) c.817G= (p.Ala273=) | |
7 | g.139962171G>T | CA369585486 | TBXAS1 | c.1072G>T (p.Ala358Ser) c.*861G>T (n.*861G>T) c.1210G>T (p.Ala404Ser) c.1075G>T (p.Ala359Ser) c.1213G>T (p.Ala405Ser) c.871G>T (p.Ala291Ser) n.1043G>T n.555G>T n.437G>T c.1015G>T (p.Ala339Ser) c.-4294965957G>T c.889G>T (p.Ala297Ser) c.817G>T (p.Ala273Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962172C>A | CA369585488 | TBXAS1 | c.1073C>A (p.Ala358Asp) c.*862C>A (n.*862C>A) c.1211C>A (p.Ala404Asp) c.1076C>A (p.Ala359Asp) c.1214C>A (p.Ala405Asp) c.872C>A (p.Ala291Asp) n.1044C>A n.556C>A n.438C>A c.1016C>A (p.Ala339Asp) c.-4294965956C>A c.890C>A (p.Ala297Asp) c.818C>A (p.Ala273Asp) | |
7 | g.139962172C>G | CA369585489 | TBXAS1 | c.1073C>G (p.Ala358Gly) c.*862C>G (n.*862C>G) c.1211C>G (p.Ala404Gly) c.1076C>G (p.Ala359Gly) c.1214C>G (p.Ala405Gly) c.872C>G (p.Ala291Gly) n.1044C>G n.556C>G n.438C>G c.1016C>G (p.Ala339Gly) c.-4294965956C>G c.890C>G (p.Ala297Gly) c.818C>G (p.Ala273Gly) | |
7 | g.139962172C>T | CA369585487 | TBXAS1 | c.1073C>T (p.Ala358Val) c.*862C>T (n.*862C>T) c.1211C>T (p.Ala404Val) c.1076C>T (p.Ala359Val) c.1214C>T (p.Ala405Val) c.872C>T (p.Ala291Val) n.1044C>T n.556C>T n.438C>T c.1016C>T (p.Ala339Val) c.-4294965956C>T c.890C>T (p.Ala297Val) c.818C>T (p.Ala273Val) | gnomAD v4 |
7 | g.139962173C>A | CA458115573 | TBXAS1 | c.1074C>A (p.Ala358=) c.*863C>A (n.*863C>A) c.1212C>A (p.Ala404=) c.1077C>A (p.Ala359=) c.1215C>A (p.Ala405=) c.873C>A (p.Ala291=) n.1045C>A n.557C>A n.439C>A c.1017C>A (p.Ala339=) c.-4294965955C>A c.891C>A (p.Ala297=) c.819C>A (p.Ala273=) | |
7 | g.139962173C>G | CA458115575 | TBXAS1 | c.1074C>G (p.Ala358=) c.*863C>G (n.*863C>G) c.1212C>G (p.Ala404=) c.1077C>G (p.Ala359=) c.1215C>G (p.Ala405=) c.873C>G (p.Ala291=) n.1045C>G n.557C>G n.439C>G c.1017C>G (p.Ala339=) c.-4294965955C>G c.891C>G (p.Ala297=) c.819C>G (p.Ala273=) | gnomAD v4 |
7 | g.139962173C>T | CA458115574 | TBXAS1 | c.1074C>T (p.Ala358=) c.*863C>T (n.*863C>T) c.1212C>T (p.Ala404=) c.1077C>T (p.Ala359=) c.1215C>T (p.Ala405=) c.873C>T (p.Ala291=) n.1045C>T n.557C>T n.439C>T c.1017C>T (p.Ala339=) c.-4294965955C>T c.891C>T (p.Ala297=) c.819C>T (p.Ala273=) | ClinVar |
7 | g.139962174A= | CA1747341134 | TBXAS1 | c.1075A= (p.Thr359=) c.*864A= (n.*864A=) c.1213A= (p.Thr405=) c.1078A= (p.Thr360=) c.1216A= (p.Thr406=) c.874A= (p.Thr292=) n.1046A= n.558A= n.440A= c.1018A= (p.Thr340=) c.-4294965954A= c.892A= (p.Thr298=) c.820A= (p.Thr274=) | |
7 | g.139962174A>C | CA369585492 | TBXAS1 | c.1075A>C (p.Thr359Pro) c.*864A>C (n.*864A>C) c.1213A>C (p.Thr405Pro) c.1078A>C (p.Thr360Pro) c.1216A>C (p.Thr406Pro) c.874A>C (p.Thr292Pro) n.1046A>C n.558A>C n.440A>C c.1018A>C (p.Thr340Pro) c.-4294965954A>C c.892A>C (p.Thr298Pro) c.820A>C (p.Thr274Pro) | |
7 | g.139962174A>G | CA369585490 | TBXAS1 | c.1075A>G (p.Thr359Ala) c.*864A>G (n.*864A>G) c.1213A>G (p.Thr405Ala) c.1078A>G (p.Thr360Ala) c.1216A>G (p.Thr406Ala) c.874A>G (p.Thr292Ala) n.1046A>G n.558A>G n.440A>G c.1018A>G (p.Thr340Ala) c.-4294965954A>G c.892A>G (p.Thr298Ala) c.820A>G (p.Thr274Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962174A>T | CA369585491 | TBXAS1 | c.1075A>T (p.Thr359Ser) c.*864A>T (n.*864A>T) c.1213A>T (p.Thr405Ser) c.1078A>T (p.Thr360Ser) c.1216A>T (p.Thr406Ser) c.874A>T (p.Thr292Ser) n.1046A>T n.558A>T n.440A>T c.1018A>T (p.Thr340Ser) c.-4294965954A>T c.892A>T (p.Thr298Ser) c.820A>T (p.Thr274Ser) | |
7 | g.139962175C>A | CA369585493 | TBXAS1 | c.1076C>A (p.Thr359Asn) c.*865C>A (n.*865C>A) c.1214C>A (p.Thr405Asn) c.1079C>A (p.Thr360Asn) c.1217C>A (p.Thr406Asn) c.875C>A (p.Thr292Asn) n.1047C>A n.559C>A n.441C>A c.1019C>A (p.Thr340Asn) c.-4294965953C>A c.893C>A (p.Thr298Asn) c.821C>A (p.Thr274Asn) | |
7 | g.139962175C= | CA1747341135 | TBXAS1 | c.1076C= (p.Thr359=) c.*865C= (n.*865C=) c.1214C= (p.Thr405=) c.1079C= (p.Thr360=) c.1217C= (p.Thr406=) c.875C= (p.Thr292=) n.1047C= n.559C= n.441C= c.1019C= (p.Thr340=) c.-4294965953C= c.893C= (p.Thr298=) c.821C= (p.Thr274=) | |
7 | g.139962175C>G | CA369585494 | TBXAS1 | c.1076C>G (p.Thr359Ser) c.*865C>G (n.*865C>G) c.1214C>G (p.Thr405Ser) c.1079C>G (p.Thr360Ser) c.1217C>G (p.Thr406Ser) c.875C>G (p.Thr292Ser) n.1047C>G n.559C>G n.441C>G c.1019C>G (p.Thr340Ser) c.-4294965953C>G c.893C>G (p.Thr298Ser) c.821C>G (p.Thr274Ser) | |
7 | g.139962175C>T | CA369585495 | TBXAS1 | c.1076C>T (p.Thr359Ile) c.*865C>T (n.*865C>T) c.1214C>T (p.Thr405Ile) c.1079C>T (p.Thr360Ile) c.1217C>T (p.Thr406Ile) c.875C>T (p.Thr292Ile) n.1047C>T n.559C>T n.441C>T c.1019C>T (p.Thr340Ile) c.-4294965953C>T c.893C>T (p.Thr298Ile) c.821C>T (p.Thr274Ile) | dbSNP gnomAD v2 |
7 | g.139962176C>A | CA458115579 | TBXAS1 | c.1077C>A (p.Thr359=) c.*866C>A (n.*866C>A) c.1215C>A (p.Thr405=) c.1080C>A (p.Thr360=) c.1218C>A (p.Thr406=) c.876C>A (p.Thr292=) n.1048C>A n.560C>A n.442C>A c.1020C>A (p.Thr340=) c.-4294965952C>A c.894C>A (p.Thr298=) c.822C>A (p.Thr274=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962176C= | CA1747341136 | TBXAS1 | c.1077C= (p.Thr359=) c.*866C= (n.*866C=) c.1215C= (p.Thr405=) c.1080C= (p.Thr360=) c.1218C= (p.Thr406=) c.876C= (p.Thr292=) n.1048C= n.560C= n.442C= c.1020C= (p.Thr340=) c.-4294965952C= c.894C= (p.Thr298=) c.822C= (p.Thr274=) | |
7 | g.139962176C>G | CA458115580 | TBXAS1 | c.1077C>G (p.Thr359=) c.*866C>G (n.*866C>G) c.1215C>G (p.Thr405=) c.1080C>G (p.Thr360=) c.1218C>G (p.Thr406=) c.876C>G (p.Thr292=) n.1048C>G n.560C>G n.442C>G c.1020C>G (p.Thr340=) c.-4294965952C>G c.894C>G (p.Thr298=) c.822C>G (p.Thr274=) | gnomAD v4 |
7 | g.139962176C>T | CA458115581 | TBXAS1 | c.1077C>T (p.Thr359=) c.*866C>T (n.*866C>T) c.1215C>T (p.Thr405=) c.1080C>T (p.Thr360=) c.1218C>T (p.Thr406=) c.876C>T (p.Thr292=) n.1048C>T n.560C>T n.442C>T c.1020C>T (p.Thr340=) c.-4294965952C>T c.894C>T (p.Thr298=) c.822C>T (p.Thr274=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962177A>C | CA369585496 | TBXAS1 | c.1078A>C (p.Asn360His) c.*867A>C (n.*867A>C) c.1216A>C (p.Asn406His) c.1081A>C (p.Asn361His) c.1219A>C (p.Asn407His) c.877A>C (p.Asn293His) n.1049A>C n.561A>C n.443A>C c.1021A>C (p.Asn341His) c.-4294965951A>C c.895A>C (p.Asn299His) c.823A>C (p.Asn275His) | gnomAD v4 |
7 | g.139962177A>G | CA369585497 | TBXAS1 | c.1078A>G (p.Asn360Asp) c.*867A>G (n.*867A>G) c.1216A>G (p.Asn406Asp) c.1081A>G (p.Asn361Asp) c.1219A>G (p.Asn407Asp) c.877A>G (p.Asn293Asp) n.1049A>G n.561A>G n.443A>G c.1021A>G (p.Asn341Asp) c.-4294965951A>G c.895A>G (p.Asn299Asp) c.823A>G (p.Asn275Asp) | |
7 | g.139962177A>T | CA369585498 | TBXAS1 | c.1078A>T (p.Asn360Tyr) c.*867A>T (n.*867A>T) c.1216A>T (p.Asn406Tyr) c.1081A>T (p.Asn361Tyr) c.1219A>T (p.Asn407Tyr) c.877A>T (p.Asn293Tyr) n.1049A>T n.561A>T n.443A>T c.1021A>T (p.Asn341Tyr) c.-4294965951A>T c.895A>T (p.Asn299Tyr) c.823A>T (p.Asn275Tyr) | |
7 | g.139962178A= | CA1747341137 | TBXAS1 | c.1079A= (p.Asn360=) c.*868A= (n.*868A=) c.1217A= (p.Asn406=) c.1082A= (p.Asn361=) c.1220A= (p.Asn407=) c.878A= (p.Asn293=) n.1050A= n.562A= n.444A= c.1022A= (p.Asn341=) c.-4294965950A= c.896A= (p.Asn299=) c.824A= (p.Asn275=) | |
7 | g.139962178A>C | CA369585499 | TBXAS1 | c.1079A>C (p.Asn360Thr) c.*868A>C (n.*868A>C) c.1217A>C (p.Asn406Thr) c.1082A>C (p.Asn361Thr) c.1220A>C (p.Asn407Thr) c.878A>C (p.Asn293Thr) n.1050A>C n.562A>C n.444A>C c.1022A>C (p.Asn341Thr) c.-4294965950A>C c.896A>C (p.Asn299Thr) c.824A>C (p.Asn275Thr) | |
7 | g.139962178A>G | CA167953451 | TBXAS1 | c.1079A>G (p.Asn360Ser) c.*868A>G (n.*868A>G) c.1217A>G (p.Asn406Ser) c.1082A>G (p.Asn361Ser) c.1220A>G (p.Asn407Ser) c.878A>G (p.Asn293Ser) n.1050A>G n.562A>G n.444A>G c.1022A>G (p.Asn341Ser) c.-4294965950A>G c.896A>G (p.Asn299Ser) c.824A>G (p.Asn275Ser) | dbSNP |
7 | g.139962178A>T | CA369585500 | TBXAS1 | c.1079A>T (p.Asn360Ile) c.*868A>T (n.*868A>T) c.1217A>T (p.Asn406Ile) c.1082A>T (p.Asn361Ile) c.1220A>T (p.Asn407Ile) c.878A>T (p.Asn293Ile) n.1050A>T n.562A>T n.444A>T c.1022A>T (p.Asn341Ile) c.-4294965950A>T c.896A>T (p.Asn299Ile) c.824A>T (p.Asn275Ile) | |
7 | g.139962179C>A | CA369585501 | TBXAS1 | c.1080C>A (p.Asn360Lys) c.*869C>A (n.*869C>A) c.1218C>A (p.Asn406Lys) c.1083C>A (p.Asn361Lys) c.1221C>A (p.Asn407Lys) c.879C>A (p.Asn293Lys) n.1051C>A n.563C>A n.445C>A c.1023C>A (p.Asn341Lys) c.-4294965949C>A c.897C>A (p.Asn299Lys) c.825C>A (p.Asn275Lys) | dbSNP |
7 | g.139962179C= | CA1747341138 | TBXAS1 | c.1080C= (p.Asn360=) c.*869C= (n.*869C=) c.1218C= (p.Asn406=) c.1083C= (p.Asn361=) c.1221C= (p.Asn407=) c.879C= (p.Asn293=) n.1051C= n.563C= n.445C= c.1023C= (p.Asn341=) c.-4294965949C= c.897C= (p.Asn299=) c.825C= (p.Asn275=) | |
7 | g.139962179C>G | CA369585502 | TBXAS1 | c.1080C>G (p.Asn360Lys) c.*869C>G (n.*869C>G) c.1218C>G (p.Asn406Lys) c.1083C>G (p.Asn361Lys) c.1221C>G (p.Asn407Lys) c.879C>G (p.Asn293Lys) n.1051C>G n.563C>G n.445C>G c.1023C>G (p.Asn341Lys) c.-4294965949C>G c.897C>G (p.Asn299Lys) c.825C>G (p.Asn275Lys) | |
7 | g.139962179C>T | CA458115585 | TBXAS1 | c.1080C>T (p.Asn360=) c.*869C>T (n.*869C>T) c.1218C>T (p.Asn406=) c.1083C>T (p.Asn361=) c.1221C>T (p.Asn407=) c.879C>T (p.Asn293=) n.1051C>T n.563C>T n.445C>T c.1023C>T (p.Asn341=) c.-4294965949C>T c.897C>T (p.Asn299=) c.825C>T (p.Asn275=) | ClinVar |
7 | g.139962180C>A | CA369585505 | TBXAS1 | c.1081C>A (p.Pro361Thr) c.*870C>A (n.*870C>A) c.1219C>A (p.Pro407Thr) c.1084C>A (p.Pro362Thr) c.1222C>A (p.Pro408Thr) c.880C>A (p.Pro294Thr) n.1052C>A n.564C>A n.446C>A c.1024C>A (p.Pro342Thr) c.-4294965948C>A c.898C>A (p.Pro300Thr) c.826C>A (p.Pro276Thr) | |
7 | g.139962180C>G | CA369585503 | TBXAS1 | c.1081C>G (p.Pro361Ala) c.*870C>G (n.*870C>G) c.1219C>G (p.Pro407Ala) c.1084C>G (p.Pro362Ala) c.1222C>G (p.Pro408Ala) c.880C>G (p.Pro294Ala) n.1052C>G n.564C>G n.446C>G c.1024C>G (p.Pro342Ala) c.-4294965948C>G c.898C>G (p.Pro300Ala) c.826C>G (p.Pro276Ala) | gnomAD v4 |
7 | g.139962180C>T | CA369585504 | TBXAS1 | c.1081C>T (p.Pro361Ser) c.*870C>T (n.*870C>T) c.1219C>T (p.Pro407Ser) c.1084C>T (p.Pro362Ser) c.1222C>T (p.Pro408Ser) c.880C>T (p.Pro294Ser) n.1052C>T n.564C>T n.446C>T c.1024C>T (p.Pro342Ser) c.-4294965948C>T c.898C>T (p.Pro300Ser) c.826C>T (p.Pro276Ser) | |
7 | g.139962181C>A | CA369585506 | TBXAS1 | c.1082C>A (p.Pro361His) c.*871C>A (n.*871C>A) c.1220C>A (p.Pro407His) c.1085C>A (p.Pro362His) c.1223C>A (p.Pro408His) c.881C>A (p.Pro294His) n.1053C>A n.565C>A n.447C>A c.1025C>A (p.Pro342His) c.-4294965947C>A c.899C>A (p.Pro300His) c.827C>A (p.Pro276His) | |
7 | g.139962181C= | CA1747341139 | TBXAS1 | c.1082C= (p.Pro361=) c.*871C= (n.*871C=) c.1220C= (p.Pro407=) c.1085C= (p.Pro362=) c.1223C= (p.Pro408=) c.881C= (p.Pro294=) n.1053C= n.565C= n.447C= c.1025C= (p.Pro342=) c.-4294965947C= c.899C= (p.Pro300=) c.827C= (p.Pro276=) | |
7 | g.139962181C>G | CA369585507 | TBXAS1 | c.1082C>G (p.Pro361Arg) c.*871C>G (n.*871C>G) c.1220C>G (p.Pro407Arg) c.1085C>G (p.Pro362Arg) c.1223C>G (p.Pro408Arg) c.881C>G (p.Pro294Arg) n.1053C>G n.565C>G n.447C>G c.1025C>G (p.Pro342Arg) c.-4294965947C>G c.899C>G (p.Pro300Arg) c.827C>G (p.Pro276Arg) | |
7 | g.139962181C>T | CA369585508 | TBXAS1 | c.1082C>T (p.Pro361Leu) c.*871C>T (n.*871C>T) c.1220C>T (p.Pro407Leu) c.1085C>T (p.Pro362Leu) c.1223C>T (p.Pro408Leu) c.881C>T (p.Pro294Leu) n.1053C>T n.565C>T n.447C>T c.1025C>T (p.Pro342Leu) c.-4294965947C>T c.899C>T (p.Pro300Leu) c.827C>T (p.Pro276Leu) | gnomAD v4 |
7 | g.139962182T>A | CA458115588 | TBXAS1 | c.1083T>A (p.Pro361=) c.*872T>A (n.*872T>A) c.1221T>A (p.Pro407=) c.1086T>A (p.Pro362=) c.1224T>A (p.Pro408=) c.882T>A (p.Pro294=) n.1054T>A n.566T>A n.448T>A c.1026T>A (p.Pro342=) c.-4294965946T>A c.900T>A (p.Pro300=) c.828T>A (p.Pro276=) | |
7 | g.139962182T>C | CA458115589 | TBXAS1 | c.1083T>C (p.Pro361=) c.*872T>C (n.*872T>C) c.1221T>C (p.Pro407=) c.1086T>C (p.Pro362=) c.1224T>C (p.Pro408=) c.882T>C (p.Pro294=) n.1054T>C n.566T>C n.448T>C c.1026T>C (p.Pro342=) c.-4294965946T>C c.900T>C (p.Pro300=) c.828T>C (p.Pro276=) | |
7 | g.139962182T>G | CA458115590 | TBXAS1 | c.1083T>G (p.Pro361=) c.*872T>G (n.*872T>G) c.1221T>G (p.Pro407=) c.1086T>G (p.Pro362=) c.1224T>G (p.Pro408=) c.882T>G (p.Pro294=) n.1054T>G n.566T>G n.448T>G c.1026T>G (p.Pro342=) c.-4294965946T>G c.900T>G (p.Pro300=) c.828T>G (p.Pro276=) | |
7 | g.139962182dup | CA4511880 | TBXAS1 | c.1083dup (p.Asp362Ter) c.*872dup (n.*872dup) c.1221dup (p.Asp408Ter) c.1086dup (p.Asp363Ter) c.1224dup (p.Asp409Ter) c.882dup (p.Asp295Ter) n.1054dup n.566dup n.448dup c.1026dup (p.Asp343Ter) c.-4294965946dup c.900dup (p.Asp301Ter) c.828dup (p.Asp277Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962183G>A | CA369585509 | TBXAS1 | c.1084G>A (p.Asp362Asn) c.*873G>A (n.*873G>A) c.1222G>A (p.Asp408Asn) c.1087G>A (p.Asp363Asn) c.1225G>A (p.Asp409Asn) c.883G>A (p.Asp295Asn) n.1055G>A n.567G>A n.449G>A c.1027G>A (p.Asp343Asn) c.-4294965945G>A c.901G>A (p.Asp301Asn) c.829G>A (p.Asp277Asn) | |
7 | g.139962183G>C | CA369585510 | TBXAS1 | c.1084G>C (p.Asp362His) c.*873G>C (n.*873G>C) c.1222G>C (p.Asp408His) c.1087G>C (p.Asp363His) c.1225G>C (p.Asp409His) c.883G>C (p.Asp295His) n.1055G>C n.567G>C n.449G>C c.1027G>C (p.Asp343His) c.-4294965945G>C c.901G>C (p.Asp301His) c.829G>C (p.Asp277His) | |
7 | g.139962183G>T | CA369585511 | TBXAS1 | c.1084G>T (p.Asp362Tyr) c.*873G>T (n.*873G>T) c.1222G>T (p.Asp408Tyr) c.1087G>T (p.Asp363Tyr) c.1225G>T (p.Asp409Tyr) c.883G>T (p.Asp295Tyr) n.1055G>T n.567G>T n.449G>T c.1027G>T (p.Asp343Tyr) c.-4294965945G>T c.901G>T (p.Asp301Tyr) c.829G>T (p.Asp277Tyr) | |
7 | g.139962184A= | CA1747341140 | TBXAS1 | c.1085A= (p.Asp362=) c.*874A= (n.*874A=) c.1223A= (p.Asp408=) c.1088A= (p.Asp363=) c.1226A= (p.Asp409=) c.884A= (p.Asp295=) n.1056A= n.568A= n.450A= c.1028A= (p.Asp343=) c.-4294965944A= c.902A= (p.Asp301=) c.830A= (p.Asp277=) | |
7 | g.139962184A>C | CA369585512 | TBXAS1 | c.1085A>C (p.Asp362Ala) c.*874A>C (n.*874A>C) c.1223A>C (p.Asp408Ala) c.1088A>C (p.Asp363Ala) c.1226A>C (p.Asp409Ala) c.884A>C (p.Asp295Ala) n.1056A>C n.568A>C n.450A>C c.1028A>C (p.Asp343Ala) c.-4294965944A>C c.902A>C (p.Asp301Ala) c.830A>C (p.Asp277Ala) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962184A>G | CA369585513 | TBXAS1 | c.1085A>G (p.Asp362Gly) c.*874A>G (n.*874A>G) c.1223A>G (p.Asp408Gly) c.1088A>G (p.Asp363Gly) c.1226A>G (p.Asp409Gly) c.884A>G (p.Asp295Gly) n.1056A>G n.568A>G n.450A>G c.1028A>G (p.Asp343Gly) c.-4294965944A>G c.902A>G (p.Asp301Gly) c.830A>G (p.Asp277Gly) | |
7 | g.139962184A>T | CA369585514 | TBXAS1 | c.1085A>T (p.Asp362Val) c.*874A>T (n.*874A>T) c.1223A>T (p.Asp408Val) c.1088A>T (p.Asp363Val) c.1226A>T (p.Asp409Val) c.884A>T (p.Asp295Val) n.1056A>T n.568A>T n.450A>T c.1028A>T (p.Asp343Val) c.-4294965944A>T c.902A>T (p.Asp301Val) c.830A>T (p.Asp277Val) | |
7 | g.139962185C>A | CA369585515 | TBXAS1 | c.1086C>A (p.Asp362Glu) c.*875C>A (n.*875C>A) c.1224C>A (p.Asp408Glu) c.1089C>A (p.Asp363Glu) c.1227C>A (p.Asp409Glu) c.885C>A (p.Asp295Glu) n.1057C>A n.569C>A n.451C>A c.1029C>A (p.Asp343Glu) c.-4294965943C>A c.903C>A (p.Asp301Glu) c.831C>A (p.Asp277Glu) | gnomAD v4 |
7 | g.139962185C= | CA1747341141 | TBXAS1 | c.1086C= (p.Asp362=) c.*875C= (n.*875C=) c.1224C= (p.Asp408=) c.1089C= (p.Asp363=) c.1227C= (p.Asp409=) c.885C= (p.Asp295=) n.1057C= n.569C= n.451C= c.1029C= (p.Asp343=) c.-4294965943C= c.903C= (p.Asp301=) c.831C= (p.Asp277=) | |
7 | g.139962185C>G | CA369585516 | TBXAS1 | c.1086C>G (p.Asp362Glu) c.*875C>G (n.*875C>G) c.1224C>G (p.Asp408Glu) c.1089C>G (p.Asp363Glu) c.1227C>G (p.Asp409Glu) c.885C>G (p.Asp295Glu) n.1057C>G n.569C>G n.451C>G c.1029C>G (p.Asp343Glu) c.-4294965943C>G c.903C>G (p.Asp301Glu) c.831C>G (p.Asp277Glu) | |
7 | g.139962185C>T | CA458115594 | TBXAS1 | c.1086C>T (p.Asp362=) c.*875C>T (n.*875C>T) c.1224C>T (p.Asp408=) c.1089C>T (p.Asp363=) c.1227C>T (p.Asp409=) c.885C>T (p.Asp295=) n.1057C>T n.569C>T n.451C>T c.1029C>T (p.Asp343=) c.-4294965943C>T c.903C>T (p.Asp301=) c.831C>T (p.Asp277=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962186T>A | CA369585519 | TBXAS1 | c.1087T>A (p.Cys363Ser) c.*876T>A (n.*876T>A) c.1225T>A (p.Cys409Ser) c.1090T>A (p.Cys364Ser) c.1228T>A (p.Cys410Ser) c.886T>A (p.Cys296Ser) n.1058T>A n.570T>A n.452T>A c.1030T>A (p.Cys344Ser) c.-4294965942T>A c.904T>A (p.Cys302Ser) c.832T>A (p.Cys278Ser) | |
7 | g.139962186T>C | CA369585518 | TBXAS1 | c.1087T>C (p.Cys363Arg) c.*876T>C (n.*876T>C) c.1225T>C (p.Cys409Arg) c.1090T>C (p.Cys364Arg) c.1228T>C (p.Cys410Arg) c.886T>C (p.Cys296Arg) n.1058T>C n.570T>C n.452T>C c.1030T>C (p.Cys344Arg) c.-4294965942T>C c.904T>C (p.Cys302Arg) c.832T>C (p.Cys278Arg) | |
7 | g.139962186T>G | CA369585517 | TBXAS1 | c.1087T>G (p.Cys363Gly) c.*876T>G (n.*876T>G) c.1225T>G (p.Cys409Gly) c.1090T>G (p.Cys364Gly) c.1228T>G (p.Cys410Gly) c.886T>G (p.Cys296Gly) n.1058T>G n.570T>G n.452T>G c.1030T>G (p.Cys344Gly) c.-4294965942T>G c.904T>G (p.Cys302Gly) c.832T>G (p.Cys278Gly) | |
7 | g.139962187G>A | CA4511881 | TBXAS1 | c.1088G>A (p.Cys363Tyr) c.*877G>A (n.*877G>A) c.1226G>A (p.Cys409Tyr) c.1091G>A (p.Cys364Tyr) c.1229G>A (p.Cys410Tyr) c.887G>A (p.Cys296Tyr) n.1059G>A n.571G>A n.453G>A c.1031G>A (p.Cys344Tyr) c.-4294965941G>A c.905G>A (p.Cys302Tyr) c.833G>A (p.Cys278Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.139962187G>C | CA369585520 | TBXAS1 | c.1088G>C (p.Cys363Ser) c.*877G>C (n.*877G>C) c.1226G>C (p.Cys409Ser) c.1091G>C (p.Cys364Ser) c.1229G>C (p.Cys410Ser) c.887G>C (p.Cys296Ser) n.1059G>C n.571G>C n.453G>C c.1031G>C (p.Cys344Ser) c.-4294965941G>C c.905G>C (p.Cys302Ser) c.833G>C (p.Cys278Ser) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962187G= | CA1747341142 | TBXAS1 | c.1088G= (p.Cys363=) c.*877G= (n.*877G=) c.1226G= (p.Cys409=) c.1091G= (p.Cys364=) c.1229G= (p.Cys410=) c.887G= (p.Cys296=) n.1059G= n.571G= n.453G= c.1031G= (p.Cys344=) c.-4294965941G= c.905G= (p.Cys302=) c.833G= (p.Cys278=) | |
7 | g.139962187G>T | CA369585521 | TBXAS1 | c.1088G>T (p.Cys363Phe) c.*877G>T (n.*877G>T) c.1226G>T (p.Cys409Phe) c.1091G>T (p.Cys364Phe) c.1229G>T (p.Cys410Phe) c.887G>T (p.Cys296Phe) n.1059G>T n.571G>T n.453G>T c.1031G>T (p.Cys344Phe) c.-4294965941G>T c.905G>T (p.Cys302Phe) c.833G>T (p.Cys278Phe) | |
7 | g.139962188C>A | CA369585522 | TBXAS1 | c.1089C>A (p.Cys363Ter) c.*878C>A (n.*878C>A) c.1227C>A (p.Cys409Ter) c.1092C>A (p.Cys364Ter) c.1230C>A (p.Cys410Ter) c.888C>A (p.Cys296Ter) n.1060C>A n.572C>A n.454C>A c.1032C>A (p.Cys344Ter) c.-4294965940C>A c.906C>A (p.Cys302Ter) c.834C>A (p.Cys278Ter) | |
7 | g.139962188C>G | CA369585523 | TBXAS1 | c.1089C>G (p.Cys363Trp) c.*878C>G (n.*878C>G) c.1227C>G (p.Cys409Trp) c.1092C>G (p.Cys364Trp) c.1230C>G (p.Cys410Trp) c.888C>G (p.Cys296Trp) n.1060C>G n.572C>G n.454C>G c.1032C>G (p.Cys344Trp) c.-4294965940C>G c.906C>G (p.Cys302Trp) c.834C>G (p.Cys278Trp) | |
7 | g.139962188C>T | CA458115597 | TBXAS1 | c.1089C>T (p.Cys363=) c.*878C>T (n.*878C>T) c.1227C>T (p.Cys409=) c.1092C>T (p.Cys364=) c.1230C>T (p.Cys410=) c.888C>T (p.Cys296=) n.1060C>T n.572C>T n.454C>T c.1032C>T (p.Cys344=) c.-4294965940C>T c.906C>T (p.Cys302=) c.834C>T (p.Cys278=) | |
7 | g.139962189C>A | CA369585524 | TBXAS1 | c.1090C>A (p.Gln364Lys) c.*879C>A (n.*879C>A) c.1228C>A (p.Gln410Lys) c.1093C>A (p.Gln365Lys) c.1231C>A (p.Gln411Lys) c.889C>A (p.Gln297Lys) n.1061C>A n.573C>A n.455C>A c.1033C>A (p.Gln345Lys) c.-4294965939C>A c.907C>A (p.Gln303Lys) c.835C>A (p.Gln279Lys) | |
7 | g.139962189C>G | CA369585525 | TBXAS1 | c.1090C>G (p.Gln364Glu) c.*879C>G (n.*879C>G) c.1228C>G (p.Gln410Glu) c.1093C>G (p.Gln365Glu) c.1231C>G (p.Gln411Glu) c.889C>G (p.Gln297Glu) n.1061C>G n.573C>G n.455C>G c.1033C>G (p.Gln345Glu) c.-4294965939C>G c.907C>G (p.Gln303Glu) c.835C>G (p.Gln279Glu) | |
7 | g.139962189C>T | CA369585526 | TBXAS1 | c.1090C>T (p.Gln364Ter) c.*879C>T (n.*879C>T) c.1228C>T (p.Gln410Ter) c.1093C>T (p.Gln365Ter) c.1231C>T (p.Gln411Ter) c.889C>T (p.Gln297Ter) n.1061C>T n.573C>T n.455C>T c.1033C>T (p.Gln345Ter) c.-4294965939C>T c.907C>T (p.Gln303Ter) c.835C>T (p.Gln279Ter) | |
7 | g.139962190A>C | CA369585527 | TBXAS1 | c.1091A>C (p.Gln364Pro) c.*880A>C (n.*880A>C) c.1229A>C (p.Gln410Pro) c.1094A>C (p.Gln365Pro) c.1232A>C (p.Gln411Pro) c.890A>C (p.Gln297Pro) n.1062A>C n.574A>C n.456A>C c.1034A>C (p.Gln345Pro) c.-4294965938A>C c.908A>C (p.Gln303Pro) c.836A>C (p.Gln279Pro) | |
7 | g.139962190A>G | CA369585528 | TBXAS1 | c.1091A>G (p.Gln364Arg) c.*880A>G (n.*880A>G) c.1229A>G (p.Gln410Arg) c.1094A>G (p.Gln365Arg) c.1232A>G (p.Gln411Arg) c.890A>G (p.Gln297Arg) n.1062A>G n.574A>G n.456A>G c.1034A>G (p.Gln345Arg) c.-4294965938A>G c.908A>G (p.Gln303Arg) c.836A>G (p.Gln279Arg) | |
7 | g.139962190A>T | CA369585529 | TBXAS1 | c.1091A>T (p.Gln364Leu) c.*880A>T (n.*880A>T) c.1229A>T (p.Gln410Leu) c.1094A>T (p.Gln365Leu) c.1232A>T (p.Gln411Leu) c.890A>T (p.Gln297Leu) n.1062A>T n.574A>T n.456A>T c.1034A>T (p.Gln345Leu) c.-4294965938A>T c.908A>T (p.Gln303Leu) c.836A>T (p.Gln279Leu) | |
7 | g.139962191A= | CA1747341143 | TBXAS1 | c.1092A= (p.Gln364=) c.*881A= (n.*881A=) c.1230A= (p.Gln410=) c.1095A= (p.Gln365=) c.1233A= (p.Gln411=) c.891A= (p.Gln297=) n.1063A= n.575A= n.457A= c.1035A= (p.Gln345=) c.-4294965937A= c.909A= (p.Gln303=) c.837A= (p.Gln279=) | |
7 | g.139962191A>C | CA369585530 | TBXAS1 | c.1092A>C (p.Gln364His) c.*881A>C (n.*881A>C) c.1230A>C (p.Gln410His) c.1095A>C (p.Gln365His) c.1233A>C (p.Gln411His) c.891A>C (p.Gln297His) n.1063A>C n.575A>C n.457A>C c.1035A>C (p.Gln345His) c.-4294965937A>C c.909A>C (p.Gln303His) c.837A>C (p.Gln279His) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962191A>G | CA458115599 | TBXAS1 | c.1092A>G (p.Gln364=) c.*881A>G (n.*881A>G) c.1230A>G (p.Gln410=) c.1095A>G (p.Gln365=) c.1233A>G (p.Gln411=) c.891A>G (p.Gln297=) n.1063A>G n.575A>G n.457A>G c.1035A>G (p.Gln345=) c.-4294965937A>G c.909A>G (p.Gln303=) c.837A>G (p.Gln279=) | |
7 | g.139962191A>T | CA369585531 | TBXAS1 | c.1092A>T (p.Gln364His) c.*881A>T (n.*881A>T) c.1230A>T (p.Gln410His) c.1095A>T (p.Gln365His) c.1233A>T (p.Gln411His) c.891A>T (p.Gln297His) n.1063A>T n.575A>T n.457A>T c.1035A>T (p.Gln345His) c.-4294965937A>T c.909A>T (p.Gln303His) c.837A>T (p.Gln279His) | |
7 | g.139962192G>A | CA369585533 | TBXAS1 | c.1093G>A (p.Glu365Lys) c.*882G>A (n.*882G>A) c.1231G>A (p.Glu411Lys) c.1096G>A (p.Glu366Lys) c.1234G>A (p.Glu412Lys) c.892G>A (p.Glu298Lys) n.1064G>A n.576G>A n.458G>A c.1036G>A (p.Glu346Lys) c.-4294965936G>A c.910G>A (p.Glu304Lys) c.838G>A (p.Glu280Lys) | |
7 | g.139962192G>C | CA369585534 | TBXAS1 | c.1093G>C (p.Glu365Gln) c.*882G>C (n.*882G>C) c.1231G>C (p.Glu411Gln) c.1096G>C (p.Glu366Gln) c.1234G>C (p.Glu412Gln) c.892G>C (p.Glu298Gln) n.1064G>C n.576G>C n.458G>C c.1036G>C (p.Glu346Gln) c.-4294965936G>C c.910G>C (p.Glu304Gln) c.838G>C (p.Glu280Gln) | |
7 | g.139962192G>T | CA369585532 | TBXAS1 | c.1093G>T (p.Glu365Ter) c.*882G>T (n.*882G>T) c.1231G>T (p.Glu411Ter) c.1096G>T (p.Glu366Ter) c.1234G>T (p.Glu412Ter) c.892G>T (p.Glu298Ter) n.1064G>T n.576G>T n.458G>T c.1036G>T (p.Glu346Ter) c.-4294965936G>T c.910G>T (p.Glu304Ter) c.838G>T (p.Glu280Ter) | |
7 | g.139962193A>C | CA369585535 | TBXAS1 | c.1094A>C (p.Glu365Ala) c.*883A>C (n.*883A>C) c.1232A>C (p.Glu411Ala) c.1097A>C (p.Glu366Ala) c.1235A>C (p.Glu412Ala) c.893A>C (p.Glu298Ala) n.1065A>C n.577A>C n.459A>C c.1037A>C (p.Glu346Ala) c.-4294965935A>C c.911A>C (p.Glu304Ala) c.839A>C (p.Glu280Ala) | |
7 | g.139962193A>G | CA369585536 | TBXAS1 | c.1094A>G (p.Glu365Gly) c.*883A>G (n.*883A>G) c.1232A>G (p.Glu411Gly) c.1097A>G (p.Glu366Gly) c.1235A>G (p.Glu412Gly) c.893A>G (p.Glu298Gly) n.1065A>G n.577A>G n.459A>G c.1037A>G (p.Glu346Gly) c.-4294965935A>G c.911A>G (p.Glu304Gly) c.839A>G (p.Glu280Gly) | |
7 | g.139962193A>T | CA369585537 | TBXAS1 | c.1094A>T (p.Glu365Val) c.*883A>T (n.*883A>T) c.1232A>T (p.Glu411Val) c.1097A>T (p.Glu366Val) c.1235A>T (p.Glu412Val) c.893A>T (p.Glu298Val) n.1065A>T n.577A>T n.459A>T c.1037A>T (p.Glu346Val) c.-4294965935A>T c.911A>T (p.Glu304Val) c.839A>T (p.Glu280Val) | COSMIC COSMIC |
7 | g.139962194G>A | CA458115601 | TBXAS1 | c.1095G>A (p.Glu365=) c.*884G>A (n.*884G>A) c.1233G>A (p.Glu411=) c.1098G>A (p.Glu366=) c.1236G>A (p.Glu412=) c.894G>A (p.Glu298=) n.1066G>A n.578G>A n.460G>A c.1038G>A (p.Glu346=) c.-4294965934G>A c.912G>A (p.Glu304=) c.840G>A (p.Glu280=) | |
7 | g.139962194G>C | CA369585538 | TBXAS1 | c.1095G>C (p.Glu365Asp) c.*884G>C (n.*884G>C) c.1233G>C (p.Glu411Asp) c.1098G>C (p.Glu366Asp) c.1236G>C (p.Glu412Asp) c.894G>C (p.Glu298Asp) n.1066G>C n.578G>C n.460G>C c.1038G>C (p.Glu346Asp) c.-4294965934G>C c.912G>C (p.Glu304Asp) c.840G>C (p.Glu280Asp) | |
7 | g.139962194G>T | CA369585539 | TBXAS1 | c.1095G>T (p.Glu365Asp) c.*884G>T (n.*884G>T) c.1233G>T (p.Glu411Asp) c.1098G>T (p.Glu366Asp) c.1236G>T (p.Glu412Asp) c.894G>T (p.Glu298Asp) n.1066G>T n.578G>T n.460G>T c.1038G>T (p.Glu346Asp) c.-4294965934G>T c.912G>T (p.Glu304Asp) c.840G>T (p.Glu280Asp) | |
7 | g.139962195A>C | CA369585542 | TBXAS1 | c.1096A>C (p.Lys366Gln) c.*885A>C (n.*885A>C) c.1234A>C (p.Lys412Gln) c.1099A>C (p.Lys367Gln) c.1237A>C (p.Lys413Gln) c.895A>C (p.Lys299Gln) n.1067A>C n.579A>C n.461A>C c.1039A>C (p.Lys347Gln) c.-4294965933A>C c.913A>C (p.Lys305Gln) c.841A>C (p.Lys281Gln) | |
7 | g.139962195A>G | CA369585540 | TBXAS1 | c.1096A>G (p.Lys366Glu) c.*885A>G (n.*885A>G) c.1234A>G (p.Lys412Glu) c.1099A>G (p.Lys367Glu) c.1237A>G (p.Lys413Glu) c.895A>G (p.Lys299Glu) n.1067A>G n.579A>G n.461A>G c.1039A>G (p.Lys347Glu) c.-4294965933A>G c.913A>G (p.Lys305Glu) c.841A>G (p.Lys281Glu) | |
7 | g.139962195A>T | CA369585541 | TBXAS1 | c.1096A>T (p.Lys366Ter) c.*885A>T (n.*885A>T) c.1234A>T (p.Lys412Ter) c.1099A>T (p.Lys367Ter) c.1237A>T (p.Lys413Ter) c.895A>T (p.Lys299Ter) n.1067A>T n.579A>T n.461A>T c.1039A>T (p.Lys347Ter) c.-4294965933A>T c.913A>T (p.Lys305Ter) c.841A>T (p.Lys281Ter) | |
7 | g.139962196A>C | CA369585543 | TBXAS1 | c.1097A>C (p.Lys366Thr) c.*886A>C (n.*886A>C) c.1235A>C (p.Lys412Thr) c.1100A>C (p.Lys367Thr) c.1238A>C (p.Lys413Thr) c.896A>C (p.Lys299Thr) n.1068A>C n.580A>C n.462A>C c.1040A>C (p.Lys347Thr) c.-4294965932A>C c.914A>C (p.Lys305Thr) c.842A>C (p.Lys281Thr) | |
7 | g.139962196A>G | CA369585544 | TBXAS1 | c.1097A>G (p.Lys366Arg) c.*886A>G (n.*886A>G) c.1235A>G (p.Lys412Arg) c.1100A>G (p.Lys367Arg) c.1238A>G (p.Lys413Arg) c.896A>G (p.Lys299Arg) n.1068A>G n.580A>G n.462A>G c.1040A>G (p.Lys347Arg) c.-4294965932A>G c.914A>G (p.Lys305Arg) c.842A>G (p.Lys281Arg) | |
7 | g.139962196A>T | CA369585545 | TBXAS1 | c.1097A>T (p.Lys366Met) c.*886A>T (n.*886A>T) c.1235A>T (p.Lys412Met) c.1100A>T (p.Lys367Met) c.1238A>T (p.Lys413Met) c.896A>T (p.Lys299Met) n.1068A>T n.580A>T n.462A>T c.1040A>T (p.Lys347Met) c.-4294965932A>T c.914A>T (p.Lys305Met) c.842A>T (p.Lys281Met) | |
7 | g.139962197G>A | CA458115604 | TBXAS1 | c.1098G>A (p.Lys366=) c.*887G>A (n.*887G>A) c.1236G>A (p.Lys412=) c.1101G>A (p.Lys367=) c.1239G>A (p.Lys413=) c.897G>A (p.Lys299=) n.1069G>A n.581G>A n.463G>A c.1041G>A (p.Lys347=) c.-4294965931G>A c.915G>A (p.Lys305=) c.843G>A (p.Lys281=) | dbSNP |
7 | g.139962197G>C | CA369585546 | TBXAS1 | c.1098G>C (p.Lys366Asn) c.*887G>C (n.*887G>C) c.1236G>C (p.Lys412Asn) c.1101G>C (p.Lys367Asn) c.1239G>C (p.Lys413Asn) c.897G>C (p.Lys299Asn) n.1069G>C n.581G>C n.463G>C c.1041G>C (p.Lys347Asn) c.-4294965931G>C c.915G>C (p.Lys305Asn) c.843G>C (p.Lys281Asn) | |
7 | g.139962197G= | CA1747341144 | TBXAS1 | c.1098G= (p.Lys366=) c.*887G= (n.*887G=) c.1236G= (p.Lys412=) c.1101G= (p.Lys367=) c.1239G= (p.Lys413=) c.897G= (p.Lys299=) n.1069G= n.581G= n.463G= c.1041G= (p.Lys347=) c.-4294965931G= c.915G= (p.Lys305=) c.843G= (p.Lys281=) | |
7 | g.139962197G>T | CA369585547 | TBXAS1 | c.1098G>T (p.Lys366Asn) c.*887G>T (n.*887G>T) c.1236G>T (p.Lys412Asn) c.1101G>T (p.Lys367Asn) c.1239G>T (p.Lys413Asn) c.897G>T (p.Lys299Asn) n.1069G>T n.581G>T n.463G>T c.1041G>T (p.Lys347Asn) c.-4294965931G>T c.915G>T (p.Lys305Asn) c.843G>T (p.Lys281Asn) | |
7 | g.139962198C>A | CA369585550 | TBXAS1 | c.1099C>A (p.Leu367Ile) c.*888C>A (n.*888C>A) c.1237C>A (p.Leu413Ile) c.1102C>A (p.Leu368Ile) c.1240C>A (p.Leu414Ile) c.898C>A (p.Leu300Ile) n.1070C>A n.582C>A n.464C>A c.1042C>A (p.Leu348Ile) c.-4294965930C>A c.916C>A (p.Leu306Ile) c.844C>A (p.Leu282Ile) | |
7 | g.139962198C>G | CA369585549 | TBXAS1 | c.1099C>G (p.Leu367Val) c.*888C>G (n.*888C>G) c.1237C>G (p.Leu413Val) c.1102C>G (p.Leu368Val) c.1240C>G (p.Leu414Val) c.898C>G (p.Leu300Val) n.1070C>G n.582C>G n.464C>G c.1042C>G (p.Leu348Val) c.-4294965930C>G c.916C>G (p.Leu306Val) c.844C>G (p.Leu282Val) | |
7 | g.139962198C>T | CA369585548 | TBXAS1 | c.1099C>T (p.Leu367Phe) c.*888C>T (n.*888C>T) c.1237C>T (p.Leu413Phe) c.1102C>T (p.Leu368Phe) c.1240C>T (p.Leu414Phe) c.898C>T (p.Leu300Phe) n.1070C>T n.582C>T n.464C>T c.1042C>T (p.Leu348Phe) c.-4294965930C>T c.916C>T (p.Leu306Phe) c.844C>T (p.Leu282Phe) | |
7 | g.139962198_139962199delinsCT | CA1747341145 | TBXAS1 | c.1099_1100delinsCT (p.Leu367=) c.*888_*889delinsCT (n.*888_*889delinsCT) c.1237_1238delinsCT (p.Leu413=) c.1102_1103delinsCT (p.Leu368=) c.1240_1241delinsCT (p.Leu414=) c.898_899delinsCT (p.Leu300=) n.1070_1071delinsCT n.582_583delinsCT n.464_465delinsCT c.1042_1043delinsCT (p.Leu348=) c.-4294965930_-4294965929delinsCT c.916_917delinsCT (p.Leu306=) c.844_845delinsCT (p.Leu282=) | |
7 | g.139962199T>A | CA369585551 | TBXAS1 | c.1100T>A (p.Leu367His) c.*889T>A (n.*889T>A) c.1238T>A (p.Leu413His) c.1103T>A (p.Leu368His) c.1241T>A (p.Leu414His) c.899T>A (p.Leu300His) n.1071T>A n.583T>A n.465T>A c.1043T>A (p.Leu348His) c.-4294965929T>A c.917T>A (p.Leu306His) c.845T>A (p.Leu282His) | |
7 | g.139962199T>C | CA369585553 | TBXAS1 | c.1100T>C (p.Leu367Pro) c.*889T>C (n.*889T>C) c.1238T>C (p.Leu413Pro) c.1103T>C (p.Leu368Pro) c.1241T>C (p.Leu414Pro) c.899T>C (p.Leu300Pro) n.1071T>C n.583T>C n.465T>C c.1043T>C (p.Leu348Pro) c.-4294965929T>C c.917T>C (p.Leu306Pro) c.845T>C (p.Leu282Pro) | |
7 | g.139962199T>G | CA369585552 | TBXAS1 | c.1100T>G (p.Leu367Arg) c.*889T>G (n.*889T>G) c.1238T>G (p.Leu413Arg) c.1103T>G (p.Leu368Arg) c.1241T>G (p.Leu414Arg) c.899T>G (p.Leu300Arg) n.1071T>G n.583T>G n.465T>G c.1043T>G (p.Leu348Arg) c.-4294965929T>G c.917T>G (p.Leu306Arg) c.845T>G (p.Leu282Arg) | |
7 | g.139962200del | CA1747341146 | TBXAS1 | c.1101del (p.Leu368Ter) c.*890del (n.*890del) c.1239del (p.Leu414Ter) c.1104del (p.Leu369Ter) c.1242del (p.Leu415Ter) c.900del (p.Leu301Ter) n.1072del n.584del n.466del c.1044del (p.Leu349Ter) c.-4294965928del c.918del (p.Leu307Ter) c.846del (p.Leu283Ter) | dbSNP |
7 | g.139962200T>A | CA458115606 | TBXAS1 | c.1101T>A (p.Leu367=) c.*890T>A (n.*890T>A) c.1239T>A (p.Leu413=) c.1104T>A (p.Leu368=) c.1242T>A (p.Leu414=) c.900T>A (p.Leu300=) n.1072T>A n.584T>A n.466T>A c.1044T>A (p.Leu348=) c.-4294965928T>A c.918T>A (p.Leu306=) c.846T>A (p.Leu282=) | |
7 | g.139962200T>C | CA458115607 | TBXAS1 | c.1101T>C (p.Leu367=) c.*890T>C (n.*890T>C) c.1239T>C (p.Leu413=) c.1104T>C (p.Leu368=) c.1242T>C (p.Leu414=) c.900T>C (p.Leu300=) n.1072T>C n.584T>C n.466T>C c.1044T>C (p.Leu348=) c.-4294965928T>C c.918T>C (p.Leu306=) c.846T>C (p.Leu282=) | gnomAD v4 |
7 | g.139962200T>G | CA458115608 | TBXAS1 | c.1101T>G (p.Leu367=) c.*890T>G (n.*890T>G) c.1239T>G (p.Leu413=) c.1104T>G (p.Leu368=) c.1242T>G (p.Leu414=) c.900T>G (p.Leu300=) n.1072T>G n.584T>G n.466T>G c.1044T>G (p.Leu348=) c.-4294965928T>G c.918T>G (p.Leu306=) c.846T>G (p.Leu282=) | |
7 | g.139962201C>A | CA369585554 | TBXAS1 | c.1102C>A (p.Leu368Met) c.*891C>A (n.*891C>A) c.1240C>A (p.Leu414Met) c.1105C>A (p.Leu369Met) c.1243C>A (p.Leu415Met) c.901C>A (p.Leu301Met) n.1073C>A n.585C>A n.467C>A c.1045C>A (p.Leu349Met) c.-4294965927C>A c.919C>A (p.Leu307Met) c.847C>A (p.Leu283Met) | |
7 | g.139962201C= | CA1747341147 | TBXAS1 | c.1102C= (p.Leu368=) c.*891C= (n.*891C=) c.1240C= (p.Leu414=) c.1105C= (p.Leu369=) c.1243C= (p.Leu415=) c.901C= (p.Leu301=) n.1073C= n.585C= n.467C= c.1045C= (p.Leu349=) c.-4294965927C= c.919C= (p.Leu307=) c.847C= (p.Leu283=) | |
7 | g.139962201C>G | CA369585555 | TBXAS1 | c.1102C>G (p.Leu368Val) c.*891C>G (n.*891C>G) c.1240C>G (p.Leu414Val) c.1105C>G (p.Leu369Val) c.1243C>G (p.Leu415Val) c.901C>G (p.Leu301Val) n.1073C>G n.585C>G n.467C>G c.1045C>G (p.Leu349Val) c.-4294965927C>G c.919C>G (p.Leu307Val) c.847C>G (p.Leu283Val) | |
7 | g.139962201C>T | CA458115609 | TBXAS1 | c.1102C>T (p.Leu368=) c.*891C>T (n.*891C>T) c.1240C>T (p.Leu414=) c.1105C>T (p.Leu369=) c.1243C>T (p.Leu415=) c.901C>T (p.Leu301=) n.1073C>T n.585C>T n.467C>T c.1045C>T (p.Leu349=) c.-4294965927C>T c.919C>T (p.Leu307=) c.847C>T (p.Leu283=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962202T>A | CA369585556 | TBXAS1 | c.1103T>A (p.Leu368Gln) c.*892T>A (n.*892T>A) c.1241T>A (p.Leu414Gln) c.1106T>A (p.Leu369Gln) c.1244T>A (p.Leu415Gln) c.902T>A (p.Leu301Gln) n.1074T>A n.586T>A n.468T>A c.1046T>A (p.Leu349Gln) c.-4294965926T>A c.920T>A (p.Leu307Gln) c.848T>A (p.Leu283Gln) | |
7 | g.139962202T>C | CA369585558 | TBXAS1 | c.1103T>C (p.Leu368Pro) c.*892T>C (n.*892T>C) c.1241T>C (p.Leu414Pro) c.1106T>C (p.Leu369Pro) c.1244T>C (p.Leu415Pro) c.902T>C (p.Leu301Pro) n.1074T>C n.586T>C n.468T>C c.1046T>C (p.Leu349Pro) c.-4294965926T>C c.920T>C (p.Leu307Pro) c.848T>C (p.Leu283Pro) | |
7 | g.139962202T>G | CA369585557 | TBXAS1 | c.1103T>G (p.Leu368Arg) c.*892T>G (n.*892T>G) c.1241T>G (p.Leu414Arg) c.1106T>G (p.Leu369Arg) c.1244T>G (p.Leu415Arg) c.902T>G (p.Leu301Arg) n.1074T>G n.586T>G n.468T>G c.1046T>G (p.Leu349Arg) c.-4294965926T>G c.920T>G (p.Leu307Arg) c.848T>G (p.Leu283Arg) | |
7 | g.139962202_139962204delinsTGA | CA1747341148 | TBXAS1 | c.1103_1105delinsTGA (p.Leu368=) c.*892_*894delinsTGA (n.*892_*894delinsTGA) c.1241_1243delinsTGA (p.Leu414=) c.1106_1108delinsTGA (p.Leu369=) c.1244_1246delinsTGA (p.Leu415=) c.902_904delinsTGA (p.Leu301=) n.1074_1076delinsTGA n.586_588delinsTGA n.468_470delinsTGA c.1046_1048delinsTGA (p.Leu349=) c.-4294965926_-4294965924delinsTGA c.920_922delinsTGA (p.Leu307=) c.848_850delinsTGA (p.Leu283=) | |
7 | g.139962203G>A | CA458115610 | TBXAS1 | c.1104G>A (p.Leu368=) c.*893G>A (n.*893G>A) c.1242G>A (p.Leu414=) c.1107G>A (p.Leu369=) c.1245G>A (p.Leu415=) c.903G>A (p.Leu301=) n.1075G>A n.587G>A n.469G>A c.1047G>A (p.Leu349=) c.-4294965925G>A c.921G>A (p.Leu307=) c.849G>A (p.Leu283=) | |
7 | g.139962203G>C | CA458115611 | TBXAS1 | c.1104G>C (p.Leu368=) c.*893G>C (n.*893G>C) c.1242G>C (p.Leu414=) c.1107G>C (p.Leu369=) c.1245G>C (p.Leu415=) c.903G>C (p.Leu301=) n.1075G>C n.587G>C n.469G>C c.1047G>C (p.Leu349=) c.-4294965925G>C c.921G>C (p.Leu307=) c.849G>C (p.Leu283=) | |
7 | g.139962203G>T | CA458115613 | TBXAS1 | c.1104G>T (p.Leu368=) c.*893G>T (n.*893G>T) c.1242G>T (p.Leu414=) c.1107G>T (p.Leu369=) c.1245G>T (p.Leu415=) c.903G>T (p.Leu301=) n.1075G>T n.587G>T n.469G>T c.1047G>T (p.Leu349=) c.-4294965925G>T c.921G>T (p.Leu307=) c.849G>T (p.Leu283=) | |
7 | g.139962208_139962209del | CA4511882 | TBXAS1 | c.1109_1110del (p.Glu370GlyfsTer5) c.*898_*899del (n.*898_*899del) c.1247_1248del (p.Glu416GlyfsTer5) c.1112_1113del (p.Glu371GlyfsTer5) c.1250_1251del (p.Glu417GlyfsTer5) c.908_909del (p.Glu303GlyfsTer5) n.1080_1081del n.592_593del n.474_475del c.1052_1053del (p.Glu351GlyfsTer5) c.-4294965920_-4294965919del c.926_927del (p.Glu309GlyfsTer5) c.854_855del (p.Glu285GlyfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962204A>C | CA458115616 | TBXAS1 | c.1105A>C (p.Arg369=) c.*894A>C (n.*894A>C) c.1243A>C (p.Arg415=) c.1108A>C (p.Arg370=) c.1246A>C (p.Arg416=) c.904A>C (p.Arg302=) n.1076A>C n.588A>C n.470A>C c.1048A>C (p.Arg350=) c.-4294965924A>C c.922A>C (p.Arg308=) c.850A>C (p.Arg284=) | |
7 | g.139962204A>G | CA369585559 | TBXAS1 | c.1105A>G (p.Arg369Gly) c.*894A>G (n.*894A>G) c.1243A>G (p.Arg415Gly) c.1108A>G (p.Arg370Gly) c.1246A>G (p.Arg416Gly) c.904A>G (p.Arg302Gly) n.1076A>G n.588A>G n.470A>G c.1048A>G (p.Arg350Gly) c.-4294965924A>G c.922A>G (p.Arg308Gly) c.850A>G (p.Arg284Gly) | |
7 | g.139962204A>T | CA369585560 | TBXAS1 | c.1105A>T (p.Arg369Ter) c.*894A>T (n.*894A>T) c.1243A>T (p.Arg415Ter) c.1108A>T (p.Arg370Ter) c.1246A>T (p.Arg416Ter) c.904A>T (p.Arg302Ter) n.1076A>T n.588A>T n.470A>T c.1048A>T (p.Arg350Ter) c.-4294965924A>T c.922A>T (p.Arg308Ter) c.850A>T (p.Arg284Ter) | |
7 | g.139962205G>A | CA369585561 | TBXAS1 | c.1106G>A (p.Arg369Lys) c.*895G>A (n.*895G>A) c.1244G>A (p.Arg415Lys) c.1109G>A (p.Arg370Lys) c.1247G>A (p.Arg416Lys) c.905G>A (p.Arg302Lys) n.1077G>A n.589G>A n.471G>A c.1049G>A (p.Arg350Lys) c.-4294965923G>A c.923G>A (p.Arg308Lys) c.851G>A (p.Arg284Lys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962205G>C | CA369585562 | TBXAS1 | c.1106G>C (p.Arg369Thr) c.*895G>C (n.*895G>C) c.1244G>C (p.Arg415Thr) c.1109G>C (p.Arg370Thr) c.1247G>C (p.Arg416Thr) c.905G>C (p.Arg302Thr) n.1077G>C n.589G>C n.471G>C c.1049G>C (p.Arg350Thr) c.-4294965923G>C c.923G>C (p.Arg308Thr) c.851G>C (p.Arg284Thr) | |
7 | g.139962205G= | CA1747341149 | TBXAS1 | c.1106G= (p.Arg369=) c.*895G= (n.*895G=) c.1244G= (p.Arg415=) c.1109G= (p.Arg370=) c.1247G= (p.Arg416=) c.905G= (p.Arg302=) n.1077G= n.589G= n.471G= c.1049G= (p.Arg350=) c.-4294965923G= c.923G= (p.Arg308=) c.851G= (p.Arg284=) | |
7 | g.139962205G>T | CA369585563 | TBXAS1 | c.1106G>T (p.Arg369Ile) c.*895G>T (n.*895G>T) c.1244G>T (p.Arg415Ile) c.1109G>T (p.Arg370Ile) c.1247G>T (p.Arg416Ile) c.905G>T (p.Arg302Ile) n.1077G>T n.589G>T n.471G>T c.1049G>T (p.Arg350Ile) c.-4294965923G>T c.923G>T (p.Arg308Ile) c.851G>T (p.Arg284Ile) | |
7 | g.139962206A>C | CA369585564 | TBXAS1 | c.1107A>C (p.Arg369Ser) c.*896A>C (n.*896A>C) c.1245A>C (p.Arg415Ser) c.1110A>C (p.Arg370Ser) c.1248A>C (p.Arg416Ser) c.906A>C (p.Arg302Ser) n.1078A>C n.590A>C n.472A>C c.1050A>C (p.Arg350Ser) c.-4294965922A>C c.924A>C (p.Arg308Ser) c.852A>C (p.Arg284Ser) | |
7 | g.139962206A>G | CA458115617 | TBXAS1 | c.1107A>G (p.Arg369=) c.*896A>G (n.*896A>G) c.1245A>G (p.Arg415=) c.1110A>G (p.Arg370=) c.1248A>G (p.Arg416=) c.906A>G (p.Arg302=) n.1078A>G n.590A>G n.472A>G c.1050A>G (p.Arg350=) c.-4294965922A>G c.924A>G (p.Arg308=) c.852A>G (p.Arg284=) | gnomAD v4 |
7 | g.139962206A>T | CA369585565 | TBXAS1 | c.1107A>T (p.Arg369Ser) c.*896A>T (n.*896A>T) c.1245A>T (p.Arg415Ser) c.1110A>T (p.Arg370Ser) c.1248A>T (p.Arg416Ser) c.906A>T (p.Arg302Ser) n.1078A>T n.590A>T n.472A>T c.1050A>T (p.Arg350Ser) c.-4294965922A>T c.924A>T (p.Arg308Ser) c.852A>T (p.Arg284Ser) | |
7 | g.139962207G>A | CA369585566 | TBXAS1 | c.1108G>A (p.Glu370Lys) c.*897G>A (n.*897G>A) c.1246G>A (p.Glu416Lys) c.1111G>A (p.Glu371Lys) c.1249G>A (p.Glu417Lys) c.907G>A (p.Glu303Lys) n.1079G>A n.591G>A n.473G>A c.1051G>A (p.Glu351Lys) c.-4294965921G>A c.925G>A (p.Glu309Lys) c.853G>A (p.Glu285Lys) | |
7 | g.139962207G>C | CA369585567 | TBXAS1 | c.1108G>C (p.Glu370Gln) c.*897G>C (n.*897G>C) c.1246G>C (p.Glu416Gln) c.1111G>C (p.Glu371Gln) c.1249G>C (p.Glu417Gln) c.907G>C (p.Glu303Gln) n.1079G>C n.591G>C n.473G>C c.1051G>C (p.Glu351Gln) c.-4294965921G>C c.925G>C (p.Glu309Gln) c.853G>C (p.Glu285Gln) | |
7 | g.139962207G>T | CA369585568 | TBXAS1 | c.1108G>T (p.Glu370Ter) c.*897G>T (n.*897G>T) c.1246G>T (p.Glu416Ter) c.1111G>T (p.Glu371Ter) c.1249G>T (p.Glu417Ter) c.907G>T (p.Glu303Ter) n.1079G>T n.591G>T n.473G>T c.1051G>T (p.Glu351Ter) c.-4294965921G>T c.925G>T (p.Glu309Ter) c.853G>T (p.Glu285Ter) | |
7 | g.139962208A>C | CA369585571 | TBXAS1 | c.1109A>C (p.Glu370Ala) c.*898A>C (n.*898A>C) c.1247A>C (p.Glu416Ala) c.1112A>C (p.Glu371Ala) c.1250A>C (p.Glu417Ala) c.908A>C (p.Glu303Ala) n.1080A>C n.592A>C n.474A>C c.1052A>C (p.Glu351Ala) c.-4294965920A>C c.926A>C (p.Glu309Ala) c.854A>C (p.Glu285Ala) | |
7 | g.139962208A>G | CA369585570 | TBXAS1 | c.1109A>G (p.Glu370Gly) c.*898A>G (n.*898A>G) c.1247A>G (p.Glu416Gly) c.1112A>G (p.Glu371Gly) c.1250A>G (p.Glu417Gly) c.908A>G (p.Glu303Gly) n.1080A>G n.592A>G n.474A>G c.1052A>G (p.Glu351Gly) c.-4294965920A>G c.926A>G (p.Glu309Gly) c.854A>G (p.Glu285Gly) | |
7 | g.139962208A>T | CA369585569 | TBXAS1 | c.1109A>T (p.Glu370Val) c.*898A>T (n.*898A>T) c.1247A>T (p.Glu416Val) c.1112A>T (p.Glu371Val) c.1250A>T (p.Glu417Val) c.908A>T (p.Glu303Val) n.1080A>T n.592A>T n.474A>T c.1052A>T (p.Glu351Val) c.-4294965920A>T c.926A>T (p.Glu309Val) c.854A>T (p.Glu285Val) | |
7 | g.139962209G>A | CA458115621 | TBXAS1 | c.1110G>A (p.Glu370=) c.*899G>A (n.*899G>A) c.1248G>A (p.Glu416=) c.1113G>A (p.Glu371=) c.1251G>A (p.Glu417=) c.909G>A (p.Glu303=) n.1081G>A n.593G>A n.475G>A c.1053G>A (p.Glu351=) c.-4294965919G>A c.927G>A (p.Glu309=) c.855G>A (p.Glu285=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962209G>C | CA369585572 | TBXAS1 | c.1110G>C (p.Glu370Asp) c.*899G>C (n.*899G>C) c.1248G>C (p.Glu416Asp) c.1113G>C (p.Glu371Asp) c.1251G>C (p.Glu417Asp) c.909G>C (p.Glu303Asp) n.1081G>C n.593G>C n.475G>C c.1053G>C (p.Glu351Asp) c.-4294965919G>C c.927G>C (p.Glu309Asp) c.855G>C (p.Glu285Asp) | |
7 | g.139962209G= | CA1747341150 | TBXAS1 | c.1110G= (p.Glu370=) c.*899G= (n.*899G=) c.1248G= (p.Glu416=) c.1113G= (p.Glu371=) c.1251G= (p.Glu417=) c.909G= (p.Glu303=) n.1081G= n.593G= n.475G= c.1053G= (p.Glu351=) c.-4294965919G= c.927G= (p.Glu309=) c.855G= (p.Glu285=) | |
7 | g.139962209G>T | CA369585573 | TBXAS1 | c.1110G>T (p.Glu370Asp) c.*899G>T (n.*899G>T) c.1248G>T (p.Glu416Asp) c.1113G>T (p.Glu371Asp) c.1251G>T (p.Glu417Asp) c.909G>T (p.Glu303Asp) n.1081G>T n.593G>T n.475G>T c.1053G>T (p.Glu351Asp) c.-4294965919G>T c.927G>T (p.Glu309Asp) c.855G>T (p.Glu285Asp) | |
7 | g.139962210G>A | CA369585574 | TBXAS1 | c.1111G>A (p.Val371Ile) c.*900G>A (n.*900G>A) c.1249G>A (p.Val417Ile) c.1114G>A (p.Val372Ile) c.1252G>A (p.Val418Ile) c.910G>A (p.Val304Ile) n.1082G>A n.594G>A n.476G>A c.1054G>A (p.Val352Ile) c.-4294965918G>A c.928G>A (p.Val310Ile) c.856G>A (p.Val286Ile) | |
7 | g.139962210G>C | CA369585575 | TBXAS1 | c.1111G>C (p.Val371Leu) c.*900G>C (n.*900G>C) c.1249G>C (p.Val417Leu) c.1114G>C (p.Val372Leu) c.1252G>C (p.Val418Leu) c.910G>C (p.Val304Leu) n.1082G>C n.594G>C n.476G>C c.1054G>C (p.Val352Leu) c.-4294965918G>C c.928G>C (p.Val310Leu) c.856G>C (p.Val286Leu) | |
7 | g.139962210G>T | CA369585576 | TBXAS1 | c.1111G>T (p.Val371Leu) c.*900G>T (n.*900G>T) c.1249G>T (p.Val417Leu) c.1114G>T (p.Val372Leu) c.1252G>T (p.Val418Leu) c.910G>T (p.Val304Leu) n.1082G>T n.594G>T n.476G>T c.1054G>T (p.Val352Leu) c.-4294965918G>T c.928G>T (p.Val310Leu) c.856G>T (p.Val286Leu) | |
7 | g.139962211T>A | CA369585577 | TBXAS1 | c.1112T>A (p.Val371Glu) c.*901T>A (n.*901T>A) c.1250T>A (p.Val417Glu) c.1115T>A (p.Val372Glu) c.1253T>A (p.Val418Glu) c.911T>A (p.Val304Glu) n.1083T>A n.595T>A n.477T>A c.1055T>A (p.Val352Glu) c.-4294965917T>A c.929T>A (p.Val310Glu) c.857T>A (p.Val286Glu) | dbSNP |
7 | g.139962211T>C | CA4511883 | TBXAS1 | c.1112T>C (p.Val371Ala) c.*901T>C (n.*901T>C) c.1250T>C (p.Val417Ala) c.1115T>C (p.Val372Ala) c.1253T>C (p.Val418Ala) c.911T>C (p.Val304Ala) n.1083T>C n.595T>C n.477T>C c.1055T>C (p.Val352Ala) c.-4294965917T>C c.929T>C (p.Val310Ala) c.857T>C (p.Val286Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.139962211T>G | CA369585578 | TBXAS1 | c.1112T>G (p.Val371Gly) c.*901T>G (n.*901T>G) c.1250T>G (p.Val417Gly) c.1115T>G (p.Val372Gly) c.1253T>G (p.Val418Gly) c.911T>G (p.Val304Gly) n.1083T>G n.595T>G n.477T>G c.1055T>G (p.Val352Gly) c.-4294965917T>G c.929T>G (p.Val310Gly) c.857T>G (p.Val286Gly) | |
7 | g.139962211T= | CA1747341151 | TBXAS1 | c.1112T= (p.Val371=) c.*901T= (n.*901T=) c.1250T= (p.Val417=) c.1115T= (p.Val372=) c.1253T= (p.Val418=) c.911T= (p.Val304=) n.1083T= n.595T= n.477T= c.1055T= (p.Val352=) c.-4294965917T= c.929T= (p.Val310=) c.857T= (p.Val286=) | |
7 | g.139962212A>C | CA458115623 | TBXAS1 | c.1113A>C (p.Val371=) c.*902A>C (n.*902A>C) c.1251A>C (p.Val417=) c.1116A>C (p.Val372=) c.1254A>C (p.Val418=) c.912A>C (p.Val304=) n.1084A>C n.596A>C n.478A>C c.1056A>C (p.Val352=) c.-4294965916A>C c.930A>C (p.Val310=) c.858A>C (p.Val286=) | |
7 | g.139962212A>G | CA458115624 | TBXAS1 | c.1113A>G (p.Val371=) c.*902A>G (n.*902A>G) c.1251A>G (p.Val417=) c.1116A>G (p.Val372=) c.1254A>G (p.Val418=) c.912A>G (p.Val304=) n.1084A>G n.596A>G n.478A>G c.1056A>G (p.Val352=) c.-4294965916A>G c.930A>G (p.Val310=) c.858A>G (p.Val286=) | dbSNP |
7 | g.139962212A>T | CA458115625 | TBXAS1 | c.1113A>T (p.Val371=) c.*902A>T (n.*902A>T) c.1251A>T (p.Val417=) c.1116A>T (p.Val372=) c.1254A>T (p.Val418=) c.912A>T (p.Val304=) n.1084A>T n.596A>T n.478A>T c.1056A>T (p.Val352=) c.-4294965916A>T c.930A>T (p.Val310=) c.858A>T (p.Val286=) | |
7 | g.139962213G>A | CA369585579 | TBXAS1 | c.1114G>A (p.Asp372Asn) c.*903G>A (n.*903G>A) c.1252G>A (p.Asp418Asn) c.1117G>A (p.Asp373Asn) c.1255G>A (p.Asp419Asn) c.913G>A (p.Asp305Asn) n.1085G>A n.597G>A n.479G>A c.1057G>A (p.Asp353Asn) c.-4294965915G>A c.931G>A (p.Asp311Asn) c.859G>A (p.Asp287Asn) | gnomAD v4 |
7 | g.139962213G>C | CA369585580 | TBXAS1 | c.1114G>C (p.Asp372His) c.*903G>C (n.*903G>C) c.1252G>C (p.Asp418His) c.1117G>C (p.Asp373His) c.1255G>C (p.Asp419His) c.913G>C (p.Asp305His) n.1085G>C n.597G>C n.479G>C c.1057G>C (p.Asp353His) c.-4294965915G>C c.931G>C (p.Asp311His) c.859G>C (p.Asp287His) | |
7 | g.139962213G>T | CA369585581 | TBXAS1 | c.1114G>T (p.Asp372Tyr) c.*903G>T (n.*903G>T) c.1252G>T (p.Asp418Tyr) c.1117G>T (p.Asp373Tyr) c.1255G>T (p.Asp419Tyr) c.913G>T (p.Asp305Tyr) n.1085G>T n.597G>T n.479G>T c.1057G>T (p.Asp353Tyr) c.-4294965915G>T c.931G>T (p.Asp311Tyr) c.859G>T (p.Asp287Tyr) | |
7 | g.139962214A= | CA1747341152 | TBXAS1 | c.1115A= (p.Asp372=) c.*904A= (n.*904A=) c.1253A= (p.Asp418=) c.1118A= (p.Asp373=) c.1256A= (p.Asp419=) c.914A= (p.Asp305=) n.1086A= n.598A= n.480A= c.1058A= (p.Asp353=) c.-4294965914A= c.932A= (p.Asp311=) c.860A= (p.Asp287=) | |
7 | g.139962214A>C | CA369585584 | TBXAS1 | c.1115A>C (p.Asp372Ala) c.*904A>C (n.*904A>C) c.1253A>C (p.Asp418Ala) c.1118A>C (p.Asp373Ala) c.1256A>C (p.Asp419Ala) c.914A>C (p.Asp305Ala) n.1086A>C n.598A>C n.480A>C c.1058A>C (p.Asp353Ala) c.-4294965914A>C c.932A>C (p.Asp311Ala) c.860A>C (p.Asp287Ala) | |
7 | g.139962214A>G | CA369585583 | TBXAS1 | c.1115A>G (p.Asp372Gly) c.*904A>G (n.*904A>G) c.1253A>G (p.Asp418Gly) c.1118A>G (p.Asp373Gly) c.1256A>G (p.Asp419Gly) c.914A>G (p.Asp305Gly) n.1086A>G n.598A>G n.480A>G c.1058A>G (p.Asp353Gly) c.-4294965914A>G c.932A>G (p.Asp311Gly) c.860A>G (p.Asp287Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.139962214A>T | CA369585582 | TBXAS1 | c.1115A>T (p.Asp372Val) c.*904A>T (n.*904A>T) c.1253A>T (p.Asp418Val) c.1118A>T (p.Asp373Val) c.1256A>T (p.Asp419Val) c.914A>T (p.Asp305Val) n.1086A>T n.598A>T n.480A>T c.1058A>T (p.Asp353Val) c.-4294965914A>T c.932A>T (p.Asp311Val) c.860A>T (p.Asp287Val) | |
7 | g.139962215C>A | CA369585585 | TBXAS1 | c.1116C>A (p.Asp372Glu) c.*905C>A (n.*905C>A) c.1254C>A (p.Asp418Glu) c.1119C>A (p.Asp373Glu) c.1257C>A (p.Asp419Glu) c.915C>A (p.Asp305Glu) n.1087C>A n.599C>A n.481C>A c.1059C>A (p.Asp353Glu) c.-4294965913C>A c.933C>A (p.Asp311Glu) c.861C>A (p.Asp287Glu) | gnomAD v4 |
7 | g.139962215C= | CA1747341153 | TBXAS1 | c.1116C= (p.Asp372=) c.*905C= (n.*905C=) c.1254C= (p.Asp418=) c.1119C= (p.Asp373=) c.1257C= (p.Asp419=) c.915C= (p.Asp305=) n.1087C= n.599C= n.481C= c.1059C= (p.Asp353=) c.-4294965913C= c.933C= (p.Asp311=) c.861C= (p.Asp287=) | |
7 | g.139962215C>G | CA369585586 | TBXAS1 | c.1116C>G (p.Asp372Glu) c.*905C>G (n.*905C>G) c.1254C>G (p.Asp418Glu) c.1119C>G (p.Asp373Glu) c.1257C>G (p.Asp419Glu) c.915C>G (p.Asp305Glu) n.1087C>G n.599C>G n.481C>G c.1059C>G (p.Asp353Glu) c.-4294965913C>G c.933C>G (p.Asp311Glu) c.861C>G (p.Asp287Glu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962215C>T | CA458115629 | TBXAS1 | c.1116C>T (p.Asp372=) c.*905C>T (n.*905C>T) c.1254C>T (p.Asp418=) c.1119C>T (p.Asp373=) c.1257C>T (p.Asp419=) c.915C>T (p.Asp305=) n.1087C>T n.599C>T n.481C>T c.1059C>T (p.Asp353=) c.-4294965913C>T c.933C>T (p.Asp311=) c.861C>T (p.Asp287=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.139962216G>A | CA167953452 | TBXAS1 | c.1117G>A (p.Val373Ile) c.*906G>A (n.*906G>A) c.1255G>A (p.Val419Ile) c.1120G>A (p.Val374Ile) c.1258G>A (p.Val420Ile) c.916G>A (p.Val306Ile) n.1088G>A n.600G>A n.482G>A c.1060G>A (p.Val354Ile) c.-4294965912G>A c.934G>A (p.Val312Ile) c.862G>A (p.Val288Ile) | dbSNP gnomAD v4 |
7 | g.139962216G>C | CA369585587 | TBXAS1 | c.1117G>C (p.Val373Leu) c.*906G>C (n.*906G>C) c.1255G>C (p.Val419Leu) c.1120G>C (p.Val374Leu) c.1258G>C (p.Val420Leu) c.916G>C (p.Val306Leu) n.1088G>C n.600G>C n.482G>C c.1060G>C (p.Val354Leu) c.-4294965912G>C c.934G>C (p.Val312Leu) c.862G>C (p.Val288Leu) | |
7 | g.139962216G= | CA1747341154 | TBXAS1 | c.1117G= (p.Val373=) c.*906G= (n.*906G=) c.1255G= (p.Val419=) c.1120G= (p.Val374=) c.1258G= (p.Val420=) c.916G= (p.Val306=) n.1088G= n.600G= n.482G= c.1060G= (p.Val354=) c.-4294965912G= c.934G= (p.Val312=) c.862G= (p.Val288=) | |
7 | g.139962216G>T | CA369585588 | TBXAS1 | c.1117G>T (p.Val373Phe) c.*906G>T (n.*906G>T) c.1255G>T (p.Val419Phe) c.1120G>T (p.Val374Phe) c.1258G>T (p.Val420Phe) c.916G>T (p.Val306Phe) n.1088G>T n.600G>T n.482G>T c.1060G>T (p.Val354Phe) c.-4294965912G>T c.934G>T (p.Val312Phe) c.862G>T (p.Val288Phe) | |
7 | g.139962217T>A | CA369585589 | TBXAS1 | c.1118T>A (p.Val373Asp) c.*907T>A (n.*907T>A) c.1256T>A (p.Val419Asp) c.1121T>A (p.Val374Asp) c.1259T>A (p.Val420Asp) c.917T>A (p.Val306Asp) n.1089T>A n.601T>A n.483T>A c.1061T>A (p.Val354Asp) c.-4294965911T>A c.935T>A (p.Val312Asp) c.863T>A (p.Val288Asp) | |
7 | g.139962217T>C | CA369585590 | TBXAS1 | c.1118T>C (p.Val373Ala) c.*907T>C (n.*907T>C) c.1256T>C (p.Val419Ala) c.1121T>C (p.Val374Ala) c.1259T>C (p.Val420Ala) c.917T>C (p.Val306Ala) n.1089T>C n.601T>C n.483T>C c.1061T>C (p.Val354Ala) c.-4294965911T>C c.935T>C (p.Val312Ala) c.863T>C (p.Val288Ala) | |
7 | g.139962217T>G | CA369585591 | TBXAS1 | c.1118T>G (p.Val373Gly) c.*907T>G (n.*907T>G) c.1256T>G (p.Val419Gly) c.1121T>G (p.Val374Gly) c.1259T>G (p.Val420Gly) c.917T>G (p.Val306Gly) n.1089T>G n.601T>G n.483T>G c.1061T>G (p.Val354Gly) c.-4294965911T>G c.935T>G (p.Val312Gly) c.863T>G (p.Val288Gly) | gnomAD v4 |
7 | g.139962218T>A | CA458115630 | TBXAS1 | c.1119T>A (p.Val373=) c.*908T>A (n.*908T>A) c.1257T>A (p.Val419=) c.1122T>A (p.Val374=) c.1260T>A (p.Val420=) c.918T>A (p.Val306=) n.1090T>A n.602T>A n.484T>A c.1062T>A (p.Val354=) c.-4294965910T>A c.936T>A (p.Val312=) c.864T>A (p.Val288=) | |
7 | g.139962218T>C | CA458115631 | TBXAS1 | c.1119T>C (p.Val373=) c.*908T>C (n.*908T>C) c.1257T>C (p.Val419=) c.1122T>C (p.Val374=) c.1260T>C (p.Val420=) c.918T>C (p.Val306=) n.1090T>C n.602T>C n.484T>C c.1062T>C (p.Val354=) c.-4294965910T>C c.936T>C (p.Val312=) c.864T>C (p.Val288=) | dbSNP |
7 | g.139962218T>G | CA458115632 | TBXAS1 | c.1119T>G (p.Val373=) c.*908T>G (n.*908T>G) c.1257T>G (p.Val419=) c.1122T>G (p.Val374=) c.1260T>G (p.Val420=) c.918T>G (p.Val306=) n.1090T>G n.602T>G n.484T>G c.1062T>G (p.Val354=) c.-4294965910T>G c.936T>G (p.Val312=) c.864T>G (p.Val288=) | |
7 | g.139962218T= | CA1747341155 | TBXAS1 | c.1119T= (p.Val373=) c.*908T= (n.*908T=) c.1257T= (p.Val419=) c.1122T= (p.Val374=) c.1260T= (p.Val420=) c.918T= (p.Val306=) n.1090T= n.602T= n.484T= c.1062T= (p.Val354=) c.-4294965910T= c.936T= (p.Val312=) c.864T= (p.Val288=) |