UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.139961981_139961998del | CA1747341035 | TBXAS1 | c.882_899del (p.Gln295_Val300del) c.*671_*688del (n.*671_*688del) c.1020_1037del (p.Gln341_Val346del) c.885_902del (p.Gln296_Val301del) c.1023_1040del (p.Gln342_Val347del) c.681_698del (p.Gln228_Val233del) n.853_870del n.365_382del n.247_264del c.825_842del (p.Gln276_Val281del) c.-4294966147_-4294966130del c.699_716del (p.Gln234_Val239del) c.627_644del (p.Gln210_Val215del) | dbSNP |
| 7 | g.139961992_139961997del | CA16042663 | TBXAS1 | c.893_898del (p.Asp298_Ile299del) c.*682_*687del (n.*682_*687del) c.1031_1036del (p.Asp344_Ile345del) c.896_901del (p.Asp299_Ile300del) c.1034_1039del (p.Asp345_Ile346del) c.692_697del (p.Asp231_Ile232del) n.864_869del n.376_381del n.258_263del c.836_841del (p.Asp279_Ile280del) c.-4294966136_-4294966131del c.710_715del (p.Asp237_Ile238del) c.638_643del (p.Asp213_Ile214del) | ClinVar dbSNP |
| 7 | g.139961997G>A | CA4511844 | TBXAS1 | c.898G>A (p.Val300Ile) c.*687G>A (n.*687G>A) c.1036G>A (p.Val346Ile) c.901G>A (p.Val301Ile) c.1039G>A (p.Val347Ile) c.697G>A (p.Val233Ile) n.869G>A n.381G>A n.263G>A c.841G>A (p.Val281Ile) c.-4294966131G>A c.715G>A (p.Val239Ile) c.643G>A (p.Val215Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.139961997G>C | CA369584374 | TBXAS1 | c.898G>C (p.Val300Leu) c.*687G>C (n.*687G>C) c.1036G>C (p.Val346Leu) c.901G>C (p.Val301Leu) c.1039G>C (p.Val347Leu) c.697G>C (p.Val233Leu) n.869G>C n.381G>C n.263G>C c.841G>C (p.Val281Leu) c.-4294966131G>C c.715G>C (p.Val239Leu) c.643G>C (p.Val215Leu) | |
| 7 | g.139961997G= | CA1747341043 | TBXAS1 | c.898G= (p.Val300=) c.*687G= (n.*687G=) c.1036G= (p.Val346=) c.901G= (p.Val301=) c.1039G= (p.Val347=) c.697G= (p.Val233=) n.869G= n.381G= n.263G= c.841G= (p.Val281=) c.-4294966131G= c.715G= (p.Val239=) c.643G= (p.Val215=) | |
| 7 | g.139961997G>T | CA369584377 | TBXAS1 | c.898G>T (p.Val300Phe) c.*687G>T (n.*687G>T) c.1036G>T (p.Val346Phe) c.901G>T (p.Val301Phe) c.1039G>T (p.Val347Phe) c.697G>T (p.Val233Phe) n.869G>T n.381G>T n.263G>T c.841G>T (p.Val281Phe) c.-4294966131G>T c.715G>T (p.Val239Phe) c.643G>T (p.Val215Phe) | |
| 7 | g.139961998T>A | CA369584381 | TBXAS1 | c.899T>A (p.Val300Asp) c.*688T>A (n.*688T>A) c.1037T>A (p.Val346Asp) c.902T>A (p.Val301Asp) c.1040T>A (p.Val347Asp) c.698T>A (p.Val233Asp) n.870T>A n.382T>A n.264T>A c.842T>A (p.Val281Asp) c.-4294966130T>A c.716T>A (p.Val239Asp) c.644T>A (p.Val215Asp) | gnomAD v4 |
| 7 | g.139961998T>C | CA369584384 | TBXAS1 | c.899T>C (p.Val300Ala) c.*688T>C (n.*688T>C) c.1037T>C (p.Val346Ala) c.902T>C (p.Val301Ala) c.1040T>C (p.Val347Ala) c.698T>C (p.Val233Ala) n.870T>C n.382T>C n.264T>C c.842T>C (p.Val281Ala) c.-4294966130T>C c.716T>C (p.Val239Ala) c.644T>C (p.Val215Ala) | |
| 7 | g.139961998T>G | CA369584387 | TBXAS1 | c.899T>G (p.Val300Gly) c.*688T>G (n.*688T>G) c.1037T>G (p.Val346Gly) c.902T>G (p.Val301Gly) c.1040T>G (p.Val347Gly) c.698T>G (p.Val233Gly) n.870T>G n.382T>G n.264T>G c.842T>G (p.Val281Gly) c.-4294966130T>G c.716T>G (p.Val239Gly) c.644T>G (p.Val215Gly) | |
| 7 | g.139961999C>A | CA458115387 | TBXAS1 | c.900C>A (p.Val300=) c.*689C>A (n.*689C>A) c.1038C>A (p.Val346=) c.903C>A (p.Val301=) c.1041C>A (p.Val347=) c.699C>A (p.Val233=) n.871C>A n.383C>A n.265C>A c.843C>A (p.Val281=) c.-4294966129C>A c.717C>A (p.Val239=) c.645C>A (p.Val215=) | |
| 7 | g.139961999C= | CA1747341045 | TBXAS1 | c.900C= (p.Val300=) c.*689C= (n.*689C=) c.1038C= (p.Val346=) c.903C= (p.Val301=) c.1041C= (p.Val347=) c.699C= (p.Val233=) n.871C= n.383C= n.265C= c.843C= (p.Val281=) c.-4294966129C= c.717C= (p.Val239=) c.645C= (p.Val215=) | |
| 7 | g.139961999C>G | CA458115388 | TBXAS1 | c.900C>G (p.Val300=) c.*689C>G (n.*689C>G) c.1038C>G (p.Val346=) c.903C>G (p.Val301=) c.1041C>G (p.Val347=) c.699C>G (p.Val233=) n.871C>G n.383C>G n.265C>G c.843C>G (p.Val281=) c.-4294966129C>G c.717C>G (p.Val239=) c.645C>G (p.Val215=) | |
| 7 | g.139961999C>T | CA458115389 | TBXAS1 | c.900C>T (p.Val300=) c.*689C>T (n.*689C>T) c.1038C>T (p.Val346=) c.903C>T (p.Val301=) c.1041C>T (p.Val347=) c.699C>T (p.Val233=) n.871C>T n.383C>T n.265C>T c.843C>T (p.Val281=) c.-4294966129C>T c.717C>T (p.Val239=) c.645C>T (p.Val215=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.139961999_139962001delinsCAG | CA1747341044 | TBXAS1 | c.900_902delinsCAG (p.Val300=) c.*689_*691delinsCAG (n.*689_*691delinsCAG) c.1038_1040delinsCAG (p.Val346=) c.903_905delinsCAG (p.Val301=) c.1041_1043delinsCAG (p.Val347=) c.699_701delinsCAG (p.Val233=) n.871_873delinsCAG n.383_385delinsCAG n.265_267delinsCAG c.843_845delinsCAG (p.Val281=) c.-4294966129_-4294966127delinsCAG c.717_719delinsCAG (p.Val239=) c.645_647delinsCAG (p.Val215=) | |
| 7 | g.139962000A>C | CA458115390 | TBXAS1 | c.901A>C (p.Arg301=) c.*690A>C (n.*690A>C) c.1039A>C (p.Arg347=) c.904A>C (p.Arg302=) c.1042A>C (p.Arg348=) c.700A>C (p.Arg234=) n.872A>C n.384A>C n.266A>C c.844A>C (p.Arg282=) c.-4294966128A>C c.718A>C (p.Arg240=) c.646A>C (p.Arg216=) | gnomAD v4 |
| 7 | g.139962000A>G | CA369584391 | TBXAS1 | c.901A>G (p.Arg301Gly) c.*690A>G (n.*690A>G) c.1039A>G (p.Arg347Gly) c.904A>G (p.Arg302Gly) c.1042A>G (p.Arg348Gly) c.700A>G (p.Arg234Gly) n.872A>G n.384A>G n.266A>G c.844A>G (p.Arg282Gly) c.-4294966128A>G c.718A>G (p.Arg240Gly) c.646A>G (p.Arg216Gly) | |
| 7 | g.139962000A>T | CA369584401 | TBXAS1 | c.901A>T (p.Arg301Ter) c.*690A>T (n.*690A>T) c.1039A>T (p.Arg347Ter) c.904A>T (p.Arg302Ter) c.1042A>T (p.Arg348Ter) c.700A>T (p.Arg234Ter) n.872A>T n.384A>T n.266A>T c.844A>T (p.Arg282Ter) c.-4294966128A>T c.718A>T (p.Arg240Ter) c.646A>T (p.Arg216Ter) | |
| 7 | g.139962003_139962004del | CA834161086 | TBXAS1 | c.904_905del (p.Asp302ArgfsTer28) c.*693_*694del (n.*693_*694del) c.1042_1043del (p.Asp348ArgfsTer28) c.907_908del (p.Asp303ArgfsTer28) c.1045_1046del (p.Asp349ArgfsTer28) c.703_704del (p.Asp235ArgfsTer28) n.875_876del n.387_388del n.269_270del c.847_848del (p.Asp283ArgfsTer28) c.-4294966125_-4294966124del c.721_722del (p.Asp241ArgfsTer28) c.649_650del (p.Asp217ArgfsTer28) | dbSNP gnomAD v4 |
| 7 | g.139962001G>A | CA369584405 | TBXAS1 | c.902G>A (p.Arg301Lys) c.*691G>A (n.*691G>A) c.1040G>A (p.Arg347Lys) c.905G>A (p.Arg302Lys) c.1043G>A (p.Arg348Lys) c.701G>A (p.Arg234Lys) n.873G>A n.385G>A n.267G>A c.845G>A (p.Arg282Lys) c.-4294966127G>A c.719G>A (p.Arg240Lys) c.647G>A (p.Arg216Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.139962001G>C | CA369584409 | TBXAS1 | c.902G>C (p.Arg301Thr) c.*691G>C (n.*691G>C) c.1040G>C (p.Arg347Thr) c.905G>C (p.Arg302Thr) c.1043G>C (p.Arg348Thr) c.701G>C (p.Arg234Thr) n.873G>C n.385G>C n.267G>C c.845G>C (p.Arg282Thr) c.-4294966127G>C c.719G>C (p.Arg240Thr) c.647G>C (p.Arg216Thr) | |
| 7 | g.139962001G= | CA1747341046 | TBXAS1 | c.902G= (p.Arg301=) c.*691G= (n.*691G=) c.1040G= (p.Arg347=) c.905G= (p.Arg302=) c.1043G= (p.Arg348=) c.701G= (p.Arg234=) n.873G= n.385G= n.267G= c.845G= (p.Arg282=) c.-4294966127G= c.719G= (p.Arg240=) c.647G= (p.Arg216=) | |
| 7 | g.139962001G>T | CA369584412 | TBXAS1 | c.902G>T (p.Arg301Ile) c.*691G>T (n.*691G>T) c.1040G>T (p.Arg347Ile) c.905G>T (p.Arg302Ile) c.1043G>T (p.Arg348Ile) c.701G>T (p.Arg234Ile) n.873G>T n.385G>T n.267G>T c.845G>T (p.Arg282Ile) c.-4294966127G>T c.719G>T (p.Arg240Ile) c.647G>T (p.Arg216Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.139962002A>C | CA369584416 | TBXAS1 | c.903A>C (p.Arg301Ser) c.*692A>C (n.*692A>C) c.1041A>C (p.Arg347Ser) c.906A>C (p.Arg302Ser) c.1044A>C (p.Arg348Ser) c.702A>C (p.Arg234Ser) n.874A>C n.386A>C n.268A>C c.846A>C (p.Arg282Ser) c.-4294966126A>C c.720A>C (p.Arg240Ser) c.648A>C (p.Arg216Ser) | |
| 7 | g.139962002A>G | CA458115392 | TBXAS1 | c.903A>G (p.Arg301=) c.*692A>G (n.*692A>G) c.1041A>G (p.Arg347=) c.906A>G (p.Arg302=) c.1044A>G (p.Arg348=) c.702A>G (p.Arg234=) n.874A>G n.386A>G n.268A>G c.846A>G (p.Arg282=) c.-4294966126A>G c.720A>G (p.Arg240=) c.648A>G (p.Arg216=) | |
| 7 | g.139962002A>T | CA369584417 | TBXAS1 | c.903A>T (p.Arg301Ser) c.*692A>T (n.*692A>T) c.1041A>T (p.Arg347Ser) c.906A>T (p.Arg302Ser) c.1044A>T (p.Arg348Ser) c.702A>T (p.Arg234Ser) n.874A>T n.386A>T n.268A>T c.846A>T (p.Arg282Ser) c.-4294966126A>T c.720A>T (p.Arg240Ser) c.648A>T (p.Arg216Ser) | |
| 7 | g.139962003G>A | CA4511845 | TBXAS1 | c.904G>A (p.Asp302Asn) c.*693G>A (n.*693G>A) c.1042G>A (p.Asp348Asn) c.907G>A (p.Asp303Asn) c.1045G>A (p.Asp349Asn) c.703G>A (p.Asp235Asn) n.875G>A n.387G>A n.269G>A c.847G>A (p.Asp283Asn) c.-4294966125G>A c.721G>A (p.Asp241Asn) c.649G>A (p.Asp217Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.139962003G>C | CA369584423 | TBXAS1 | c.904G>C (p.Asp302His) c.*693G>C (n.*693G>C) c.1042G>C (p.Asp348His) c.907G>C (p.Asp303His) c.1045G>C (p.Asp349His) c.703G>C (p.Asp235His) n.875G>C n.387G>C n.269G>C c.847G>C (p.Asp283His) c.-4294966125G>C c.721G>C (p.Asp241His) c.649G>C (p.Asp217His) | |
| 7 | g.139962003G= | CA1747341047 | TBXAS1 | c.904G= (p.Asp302=) c.*693G= (n.*693G=) c.1042G= (p.Asp348=) c.907G= (p.Asp303=) c.1045G= (p.Asp349=) c.703G= (p.Asp235=) n.875G= n.387G= n.269G= c.847G= (p.Asp283=) c.-4294966125G= c.721G= (p.Asp241=) c.649G= (p.Asp217=) | |
| 7 | g.139962003G>T | CA369584425 | TBXAS1 | c.904G>T (p.Asp302Tyr) c.*693G>T (n.*693G>T) c.1042G>T (p.Asp348Tyr) c.907G>T (p.Asp303Tyr) c.1045G>T (p.Asp349Tyr) c.703G>T (p.Asp235Tyr) n.875G>T n.387G>T n.269G>T c.847G>T (p.Asp283Tyr) c.-4294966125G>T c.721G>T (p.Asp241Tyr) c.649G>T (p.Asp217Tyr) | |
| 7 | g.139962004A>C | CA369584433 | TBXAS1 | c.905A>C (p.Asp302Ala) c.*694A>C (n.*694A>C) c.1043A>C (p.Asp348Ala) c.908A>C (p.Asp303Ala) c.1046A>C (p.Asp349Ala) c.704A>C (p.Asp235Ala) n.876A>C n.388A>C n.270A>C c.848A>C (p.Asp283Ala) c.-4294966124A>C c.722A>C (p.Asp241Ala) c.650A>C (p.Asp217Ala) | |
| 7 | g.139962004A>G | CA369584438 | TBXAS1 | c.905A>G (p.Asp302Gly) c.*694A>G (n.*694A>G) c.1043A>G (p.Asp348Gly) c.908A>G (p.Asp303Gly) c.1046A>G (p.Asp349Gly) c.704A>G (p.Asp235Gly) n.876A>G n.388A>G n.270A>G c.848A>G (p.Asp283Gly) c.-4294966124A>G c.722A>G (p.Asp241Gly) c.650A>G (p.Asp217Gly) | |
| 7 | g.139962004A>T | CA369584441 | TBXAS1 | c.905A>T (p.Asp302Val) c.*694A>T (n.*694A>T) c.1043A>T (p.Asp348Val) c.908A>T (p.Asp303Val) c.1046A>T (p.Asp349Val) c.704A>T (p.Asp235Val) n.876A>T n.388A>T n.270A>T c.848A>T (p.Asp283Val) c.-4294966124A>T c.722A>T (p.Asp241Val) c.650A>T (p.Asp217Val) | gnomAD v4 |
| 7 | g.139962005C>A | CA369584445 | TBXAS1 | c.906C>A (p.Asp302Glu) c.*695C>A (n.*695C>A) c.1044C>A (p.Asp348Glu) c.909C>A (p.Asp303Glu) c.1047C>A (p.Asp349Glu) c.705C>A (p.Asp235Glu) n.877C>A n.389C>A n.271C>A c.849C>A (p.Asp283Glu) c.-4294966123C>A c.723C>A (p.Asp241Glu) c.651C>A (p.Asp217Glu) | dbSNP |
| 7 | g.139962005C= | CA1747341048 | TBXAS1 | c.906C= (p.Asp302=) c.*695C= (n.*695C=) c.1044C= (p.Asp348=) c.909C= (p.Asp303=) c.1047C= (p.Asp349=) c.705C= (p.Asp235=) n.877C= n.389C= n.271C= c.849C= (p.Asp283=) c.-4294966123C= c.723C= (p.Asp241=) c.651C= (p.Asp217=) | |
| 7 | g.139962005C>G | CA369584446 | TBXAS1 | c.906C>G (p.Asp302Glu) c.*695C>G (n.*695C>G) c.1044C>G (p.Asp348Glu) c.909C>G (p.Asp303Glu) c.1047C>G (p.Asp349Glu) c.705C>G (p.Asp235Glu) n.877C>G n.389C>G n.271C>G c.849C>G (p.Asp283Glu) c.-4294966123C>G c.723C>G (p.Asp241Glu) c.651C>G (p.Asp217Glu) | |
| 7 | g.139962005C>T | CA4511846 | TBXAS1 | c.906C>T (p.Asp302=) c.*695C>T (n.*695C>T) c.1044C>T (p.Asp348=) c.909C>T (p.Asp303=) c.1047C>T (p.Asp349=) c.705C>T (p.Asp235=) n.877C>T n.389C>T n.271C>T c.849C>T (p.Asp283=) c.-4294966123C>T c.723C>T (p.Asp241=) c.651C>T (p.Asp217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.139962006G>A | CA4511847 | TBXAS1 | c.907G>A (p.Val303Ile) c.*696G>A (n.*696G>A) c.1045G>A (p.Val349Ile) c.910G>A (p.Val304Ile) c.1048G>A (p.Val350Ile) c.706G>A (p.Val236Ile) n.878G>A n.390G>A n.272G>A c.850G>A (p.Val284Ile) c.-4294966122G>A c.724G>A (p.Val242Ile) c.652G>A (p.Val218Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.139962006G>C | CA369584453 | TBXAS1 | c.907G>C (p.Val303Leu) c.*696G>C (n.*696G>C) c.1045G>C (p.Val349Leu) c.910G>C (p.Val304Leu) c.1048G>C (p.Val350Leu) c.706G>C (p.Val236Leu) n.878G>C n.390G>C n.272G>C c.850G>C (p.Val284Leu) c.-4294966122G>C c.724G>C (p.Val242Leu) c.652G>C (p.Val218Leu) | |
| 7 | g.139962006G= | CA1747341049 | TBXAS1 | c.907G= (p.Val303=) c.*696G= (n.*696G=) c.1045G= (p.Val349=) c.910G= (p.Val304=) c.1048G= (p.Val350=) c.706G= (p.Val236=) n.878G= n.390G= n.272G= c.850G= (p.Val284=) c.-4294966122G= c.724G= (p.Val242=) c.652G= (p.Val218=) | |
| 7 | g.139962006G>T | CA369584455 | TBXAS1 | c.907G>T (p.Val303Phe) c.*696G>T (n.*696G>T) c.1045G>T (p.Val349Phe) c.910G>T (p.Val304Phe) c.1048G>T (p.Val350Phe) c.706G>T (p.Val236Phe) n.878G>T n.390G>T n.272G>T c.850G>T (p.Val284Phe) c.-4294966122G>T c.724G>T (p.Val242Phe) c.652G>T (p.Val218Phe) | |
| 7 | g.139962007T>A | CA369584461 | TBXAS1 | c.908T>A (p.Val303Asp) c.*697T>A (n.*697T>A) c.1046T>A (p.Val349Asp) c.911T>A (p.Val304Asp) c.1049T>A (p.Val350Asp) c.707T>A (p.Val236Asp) n.879T>A n.391T>A n.273T>A c.851T>A (p.Val284Asp) c.-4294966121T>A c.725T>A (p.Val242Asp) c.653T>A (p.Val218Asp) | |
| 7 | g.139962007T>C | CA369584464 | TBXAS1 | c.908T>C (p.Val303Ala) c.*697T>C (n.*697T>C) c.1046T>C (p.Val349Ala) c.911T>C (p.Val304Ala) c.1049T>C (p.Val350Ala) c.707T>C (p.Val236Ala) n.879T>C n.391T>C n.273T>C c.851T>C (p.Val284Ala) c.-4294966121T>C c.725T>C (p.Val242Ala) c.653T>C (p.Val218Ala) | |
| 7 | g.139962007T>G | CA369584467 | TBXAS1 | c.908T>G (p.Val303Gly) c.*697T>G (n.*697T>G) c.1046T>G (p.Val349Gly) c.911T>G (p.Val304Gly) c.1049T>G (p.Val350Gly) c.707T>G (p.Val236Gly) n.879T>G n.391T>G n.273T>G c.851T>G (p.Val284Gly) c.-4294966121T>G c.725T>G (p.Val242Gly) c.653T>G (p.Val218Gly) | |
| 7 | g.139962008T>A | CA458115398 | TBXAS1 | c.909T>A (p.Val303=) c.*698T>A (n.*698T>A) c.1047T>A (p.Val349=) c.912T>A (p.Val304=) c.1050T>A (p.Val350=) c.708T>A (p.Val236=) n.880T>A n.392T>A n.274T>A c.852T>A (p.Val284=) c.-4294966120T>A c.726T>A (p.Val242=) c.654T>A (p.Val218=) | |
| 7 | g.139962008T>C | CA458115399 | TBXAS1 | c.909T>C (p.Val303=) c.*698T>C (n.*698T>C) c.1047T>C (p.Val349=) c.912T>C (p.Val304=) c.1050T>C (p.Val350=) c.708T>C (p.Val236=) n.880T>C n.392T>C n.274T>C c.852T>C (p.Val284=) c.-4294966120T>C c.726T>C (p.Val242=) c.654T>C (p.Val218=) | dbSNP |
| 7 | g.139962008T>G | CA458115400 | TBXAS1 | c.909T>G (p.Val303=) c.*698T>G (n.*698T>G) c.1047T>G (p.Val349=) c.912T>G (p.Val304=) c.1050T>G (p.Val350=) c.708T>G (p.Val236=) n.880T>G n.392T>G n.274T>G c.852T>G (p.Val284=) c.-4294966120T>G c.726T>G (p.Val242=) c.654T>G (p.Val218=) | |
| 7 | g.139962008T= | CA1747341050 | TBXAS1 | c.909T= (p.Val303=) c.*698T= (n.*698T=) c.1047T= (p.Val349=) c.912T= (p.Val304=) c.1050T= (p.Val350=) c.708T= (p.Val236=) n.880T= n.392T= n.274T= c.852T= (p.Val284=) c.-4294966120T= c.726T= (p.Val242=) c.654T= (p.Val218=) | |
| 7 | g.139962009T>A | CA369584471 | TBXAS1 | c.910T>A (p.Phe304Ile) c.*699T>A (n.*699T>A) c.1048T>A (p.Phe350Ile) c.913T>A (p.Phe305Ile) c.1051T>A (p.Phe351Ile) c.709T>A (p.Phe237Ile) n.881T>A n.393T>A n.275T>A c.853T>A (p.Phe285Ile) c.-4294966119T>A c.727T>A (p.Phe243Ile) c.655T>A (p.Phe219Ile) | |
| 7 | g.139962009T>C | CA369584478 | TBXAS1 | c.910T>C (p.Phe304Leu) c.*699T>C (n.*699T>C) c.1048T>C (p.Phe350Leu) c.913T>C (p.Phe305Leu) c.1051T>C (p.Phe351Leu) c.709T>C (p.Phe237Leu) n.881T>C n.393T>C n.275T>C c.853T>C (p.Phe285Leu) c.-4294966119T>C c.727T>C (p.Phe243Leu) c.655T>C (p.Phe219Leu) | |
| 7 | g.139962009T>G | CA369584474 | TBXAS1 | c.910T>G (p.Phe304Val) c.*699T>G (n.*699T>G) c.1048T>G (p.Phe350Val) c.913T>G (p.Phe305Val) c.1051T>G (p.Phe351Val) c.709T>G (p.Phe237Val) n.881T>G n.393T>G n.275T>G c.853T>G (p.Phe285Val) c.-4294966119T>G c.727T>G (p.Phe243Val) c.655T>G (p.Phe219Val) |