| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.24127515G>A | CA432916204 | THRB | c.1128C>T (p.Val376=) c.*1757C>T (n.*1757C>T) c.1173C>T (p.Val391=) c.1035C>T (p.Val345=) c.973+155C>T (n.973+155C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24127515G>C | CA432916203 | THRB | c.1128C>G (p.Val376=) c.*1757C>G (n.*1757C>G) c.1173C>G (p.Val391=) c.1035C>G (p.Val345=) c.973+155C>G (n.973+155C>G) | |
| 3 | g.24127515G= | CA1351825239 | THRB | c.1128C= (p.Val376=) c.*1757C= (n.*1757C=) c.1173C= (p.Val391=) c.1035C= (p.Val345=) c.973+155C= (n.973+155C=) | |
| 3 | g.24127515G>T | CA432916202 | THRB | c.1128C>A (p.Val376=) c.*1757C>A (n.*1757C>A) c.1173C>A (p.Val391=) c.1035C>A (p.Val345=) c.973+155C>A (n.973+155C>A) | |
| 3 | g.24127516A>C | CA351888486 | THRB | c.1127T>G (p.Val376Gly) c.*1756T>G (n.*1756T>G) c.1172T>G (p.Val391Gly) c.1034T>G (p.Val345Gly) c.973+154T>G (n.973+154T>G) | |
| 3 | g.24127516A>G | CA351888488 | THRB | c.1127T>C (p.Val376Ala) c.*1756T>C (n.*1756T>C) c.1172T>C (p.Val391Ala) c.1034T>C (p.Val345Ala) c.973+154T>C (n.973+154T>C) | |
| 3 | g.24127516A>T | CA351888490 | THRB | c.1127T>A (p.Val376Asp) c.*1756T>A (n.*1756T>A) c.1172T>A (p.Val391Asp) c.1034T>A (p.Val345Asp) c.973+154T>A (n.973+154T>A) | |
| 3 | g.24127517C>A | CA351888492 | THRB | c.1126G>T (p.Val376Phe) c.*1755G>T (n.*1755G>T) c.1171G>T (p.Val391Phe) c.1033G>T (p.Val345Phe) c.973+153G>T (n.973+153G>T) | |
| 3 | g.24127517C= | CA1351825240 | THRB | c.1126G= (p.Val376=) c.*1755G= (n.*1755G=) c.1171G= (p.Val391=) c.1033G= (p.Val345=) c.973+153G= (n.973+153G=) | |
| 3 | g.24127517C>G | CA2287122 | THRB | c.1126G>C (p.Val376Leu) c.*1755G>C (n.*1755G>C) c.1171G>C (p.Val391Leu) c.1033G>C (p.Val345Leu) c.973+153G>C (n.973+153G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127517C>T | CA351888494 | THRB | c.1126G>A (p.Val376Ile) c.*1755G>A (n.*1755G>A) c.1171G>A (p.Val391Ile) c.1033G>A (p.Val345Ile) c.973+153G>A (n.973+153G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127518G>A | CA2287123 | THRB | c.1125C>T (p.Ala375=) c.*1754C>T (n.*1754C>T) c.1170C>T (p.Ala390=) c.1032C>T (p.Ala344=) c.973+152C>T (n.973+152C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127518G>C | CA432916208 | THRB | c.1125C>G (p.Ala375=) c.*1754C>G (n.*1754C>G) c.1170C>G (p.Ala390=) c.1032C>G (p.Ala344=) c.973+152C>G (n.973+152C>G) | |
| 3 | g.24127518G= | CA1351825243 | THRB | c.1125C= (p.Ala375=) c.*1754C= (n.*1754C=) c.1170C= (p.Ala390=) c.1032C= (p.Ala344=) c.973+152C= (n.973+152C=) | |
| 3 | g.24127518G>T | CA432916207 | THRB | c.1125C>A (p.Ala375=) c.*1754C>A (n.*1754C>A) c.1170C>A (p.Ala390=) c.1032C>A (p.Ala344=) c.973+152C>A (n.973+152C>A) | |
| 3 | g.24127519G>A | CA351888497 | THRB | c.1124C>T (p.Ala375Val) c.*1753C>T (n.*1753C>T) c.1169C>T (p.Ala390Val) c.1031C>T (p.Ala344Val) c.973+151C>T (n.973+151C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24127519G>C | CA351888499 | THRB | c.1124C>G (p.Ala375Gly) c.*1753C>G (n.*1753C>G) c.1169C>G (p.Ala390Gly) c.1031C>G (p.Ala344Gly) c.973+151C>G (n.973+151C>G) | |
| 3 | g.24127519G= | CA1351825248 | THRB | c.1124C= (p.Ala375=) c.*1753C= (n.*1753C=) c.1169C= (p.Ala390=) c.1031C= (p.Ala344=) c.973+151C= (n.973+151C=) | |
| 3 | g.24127519G>T | CA351888501 | THRB | c.1124C>A (p.Ala375Asp) c.*1753C>A (n.*1753C>A) c.1169C>A (p.Ala390Asp) c.1031C>A (p.Ala344Asp) c.973+151C>A (n.973+151C>A) | |
| 3 | g.24127520C>A | CA351888502 | THRB | c.1123G>T (p.Ala375Ser) c.*1752G>T (n.*1752G>T) c.1168G>T (p.Ala390Ser) c.1030G>T (p.Ala344Ser) c.973+150G>T (n.973+150G>T) | gnomAD v4 |
| 3 | g.24127520C>G | CA351888503 | THRB | c.1123G>C (p.Ala375Pro) c.*1752G>C (n.*1752G>C) c.1168G>C (p.Ala390Pro) c.1030G>C (p.Ala344Pro) c.973+150G>C (n.973+150G>C) | |
| 3 | g.24127520C>T | CA351888505 | THRB | c.1123G>A (p.Ala375Thr) c.*1752G>A (n.*1752G>A) c.1168G>A (p.Ala390Thr) c.1030G>A (p.Ala344Thr) c.973+150G>A (n.973+150G>A) | |
| 3 | g.24127521C>A | CA2287124 | THRB | c.1122G>T (p.Gln374His) c.*1751G>T (n.*1751G>T) c.1167G>T (p.Gln389His) c.1029G>T (p.Gln343His) c.973+149G>T (n.973+149G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127521C= | CA1351825252 | THRB | c.1122G= (p.Gln374=) c.*1751G= (n.*1751G=) c.1167G= (p.Gln389=) c.1029G= (p.Gln343=) c.973+149G= (n.973+149G=) | |
| 3 | g.24127521C>G | CA351888508 | THRB | c.1122G>C (p.Gln374His) c.*1751G>C (n.*1751G>C) c.1167G>C (p.Gln389His) c.1029G>C (p.Gln343His) c.973+149G>C (n.973+149G>C) | |
| 3 | g.24127521C>T | CA432916212 | THRB | c.1122G>A (p.Gln374=) c.*1751G>A (n.*1751G>A) c.1167G>A (p.Gln389=) c.1029G>A (p.Gln343=) c.973+149G>A (n.973+149G>A) | |
| 3 | g.24127522T>A | CA351888510 | THRB | c.1121A>T (p.Gln374Leu) c.*1750A>T (n.*1750A>T) c.1166A>T (p.Gln389Leu) c.1028A>T (p.Gln343Leu) c.973+148A>T (n.973+148A>T) | |
| 3 | g.24127522T>C | CA351888512 | THRB | c.1121A>G (p.Gln374Arg) c.*1750A>G (n.*1750A>G) c.1166A>G (p.Gln389Arg) c.1028A>G (p.Gln343Arg) c.973+148A>G (n.973+148A>G) | |
| 3 | g.24127522T>G | CA351888513 | THRB | c.1121A>C (p.Gln374Pro) c.*1750A>C (n.*1750A>C) c.1166A>C (p.Gln389Pro) c.1028A>C (p.Gln343Pro) c.973+148A>C (n.973+148A>C) | |
| 3 | g.24127523G>A | CA351888515 | THRB | c.1120C>T (p.Gln374Ter) c.*1749C>T (n.*1749C>T) c.1165C>T (p.Gln389Ter) c.1027C>T (p.Gln343Ter) c.973+147C>T (n.973+147C>T) | |
| 3 | g.24127523G>C | CA351888519 | THRB | c.1120C>G (p.Gln374Glu) c.*1749C>G (n.*1749C>G) c.1165C>G (p.Gln389Glu) c.1027C>G (p.Gln343Glu) c.973+147C>G (n.973+147C>G) | |
| 3 | g.24127523G>T | CA351888517 | THRB | c.1120C>A (p.Gln374Lys) c.*1749C>A (n.*1749C>A) c.1165C>A (p.Gln389Lys) c.1027C>A (p.Gln343Lys) c.973+147C>A (n.973+147C>A) | |
| 3 | g.24127524A>C | CA432916213 | THRB | c.1119T>G (p.Leu373=) c.*1748T>G (n.*1748T>G) c.1164T>G (p.Leu388=) c.1026T>G (p.Leu342=) c.973+146T>G (n.973+146T>G) | |
| 3 | g.24127524A>G | CA432916214 | THRB | c.1119T>C (p.Leu373=) c.*1748T>C (n.*1748T>C) c.1164T>C (p.Leu388=) c.1026T>C (p.Leu342=) c.973+146T>C (n.973+146T>C) | |
| 3 | g.24127524A>T | CA432916215 | THRB | c.1119T>A (p.Leu373=) c.*1748T>A (n.*1748T>A) c.1164T>A (p.Leu388=) c.1026T>A (p.Leu342=) c.973+146T>A (n.973+146T>A) | |
| 3 | g.24127525A>C | CA351888521 | THRB | c.1118T>G (p.Leu373Arg) c.*1747T>G (n.*1747T>G) c.1163T>G (p.Leu388Arg) c.1025T>G (p.Leu342Arg) c.973+145T>G (n.973+145T>G) | |
| 3 | g.24127525A>G | CA351888522 | THRB | c.1118T>C (p.Leu373Pro) c.*1747T>C (n.*1747T>C) c.1163T>C (p.Leu388Pro) c.1025T>C (p.Leu342Pro) c.973+145T>C (n.973+145T>C) | |
| 3 | g.24127525A>T | CA351888524 | THRB | c.1118T>A (p.Leu373His) c.*1747T>A (n.*1747T>A) c.1163T>A (p.Leu388His) c.1025T>A (p.Leu342His) c.973+145T>A (n.973+145T>A) | |
| 3 | g.24127526G>A | CA351888526 | THRB | c.1117C>T (p.Leu373Phe) c.*1746C>T (n.*1746C>T) c.1162C>T (p.Leu388Phe) c.1024C>T (p.Leu342Phe) c.973+144C>T (n.973+144C>T) | |
| 3 | g.24127526G>C | CA351888528 | THRB | c.1117C>G (p.Leu373Val) c.*1746C>G (n.*1746C>G) c.1162C>G (p.Leu388Val) c.1024C>G (p.Leu342Val) c.973+144C>G (n.973+144C>G) | |
| 3 | g.24127526G>T | CA351888530 | THRB | c.1117C>A (p.Leu373Ile) c.*1746C>A (n.*1746C>A) c.1162C>A (p.Leu388Ile) c.1024C>A (p.Leu342Ile) c.973+144C>A (n.973+144C>A) | |
| 3 | g.24127527G>A | CA432916217 | THRB | c.1116C>T (p.Leu372=) c.*1745C>T (n.*1745C>T) c.1161C>T (p.Leu387=) c.1023C>T (p.Leu341=) c.973+143C>T (n.973+143C>T) | |
| 3 | g.24127527G>C | CA432916218 | THRB | c.1116C>G (p.Leu372=) c.*1745C>G (n.*1745C>G) c.1161C>G (p.Leu387=) c.1023C>G (p.Leu341=) c.973+143C>G (n.973+143C>G) | |
| 3 | g.24127527G>T | CA432916219 | THRB | c.1116C>A (p.Leu372=) c.*1745C>A (n.*1745C>A) c.1161C>A (p.Leu387=) c.1023C>A (p.Leu341=) c.973+143C>A (n.973+143C>A) | |
| 3 | g.24127528A>C | CA351888532 | THRB | c.1115T>G (p.Leu372Arg) c.*1744T>G (n.*1744T>G) c.1160T>G (p.Leu387Arg) c.1022T>G (p.Leu341Arg) c.973+142T>G (n.973+142T>G) | |
| 3 | g.24127528A>G | CA351888533 | THRB | c.1115T>C (p.Leu372Pro) c.*1744T>C (n.*1744T>C) c.1160T>C (p.Leu387Pro) c.1022T>C (p.Leu341Pro) c.973+142T>C (n.973+142T>C) | |
| 3 | g.24127528A>T | CA351888535 | THRB | c.1115T>A (p.Leu372His) c.*1744T>A (n.*1744T>A) c.1160T>A (p.Leu387His) c.1022T>A (p.Leu341His) c.973+142T>A (n.973+142T>A) | |
| 3 | g.24127529G>A | CA351888538 | THRB | c.1114C>T (p.Leu372Phe) c.*1743C>T (n.*1743C>T) c.1159C>T (p.Leu387Phe) c.1021C>T (p.Leu341Phe) c.973+141C>T (n.973+141C>T) | |
| 3 | g.24127529G>C | CA351888539 | THRB | c.1114C>G (p.Leu372Val) c.*1743C>G (n.*1743C>G) c.1159C>G (p.Leu387Val) c.1021C>G (p.Leu341Val) c.973+141C>G (n.973+141C>G) | |
| 3 | g.24127529G>T | CA351888540 | THRB | c.1114C>A (p.Leu372Ile) c.*1743C>A (n.*1743C>A) c.1159C>A (p.Leu387Ile) c.1021C>A (p.Leu341Ile) c.973+141C>A (n.973+141C>A) | |
| 3 | g.24127530G>A | CA432916223 | THRB | c.1113C>T (p.Ala371=) c.*1742C>T (n.*1742C>T) c.1158C>T (p.Ala386=) c.1020C>T (p.Ala340=) c.973+140C>T (n.973+140C>T) | |
| 3 | g.24127530G>C | CA432916224 | THRB | c.1113C>G (p.Ala371=) c.*1742C>G (n.*1742C>G) c.1158C>G (p.Ala386=) c.1020C>G (p.Ala340=) c.973+140C>G (n.973+140C>G) | |
| 3 | g.24127530G>T | CA432916225 | THRB | c.1113C>A (p.Ala371=) c.*1742C>A (n.*1742C>A) c.1158C>A (p.Ala386=) c.1020C>A (p.Ala340=) c.973+140C>A (n.973+140C>A) | |
| 3 | g.24127531G>A | CA351888543 | THRB | c.1112C>T (p.Ala371Val) c.*1741C>T (n.*1741C>T) c.1157C>T (p.Ala386Val) c.1019C>T (p.Ala340Val) c.973+139C>T (n.973+139C>T) | |
| 3 | g.24127531G>C | CA351888542 | THRB | c.1112C>G (p.Ala371Gly) c.*1741C>G (n.*1741C>G) c.1157C>G (p.Ala386Gly) c.1019C>G (p.Ala340Gly) c.973+139C>G (n.973+139C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127531G= | CA1351825254 | THRB | c.1112C= (p.Ala371=) c.*1741C= (n.*1741C=) c.1157C= (p.Ala386=) c.1019C= (p.Ala340=) c.973+139C= (n.973+139C=) | |
| 3 | g.24127531G>T | CA351888541 | THRB | c.1112C>A (p.Ala371Asp) c.*1741C>A (n.*1741C>A) c.1157C>A (p.Ala386Asp) c.1019C>A (p.Ala340Asp) c.973+139C>A (n.973+139C>A) | |
| 3 | g.24127532C>A | CA351888544 | THRB | c.1111G>T (p.Ala371Ser) c.*1740G>T (n.*1740G>T) c.1156G>T (p.Ala386Ser) c.1018G>T (p.Ala340Ser) c.973+138G>T (n.973+138G>T) | |
| 3 | g.24127532C>G | CA351888545 | THRB | c.1111G>C (p.Ala371Pro) c.*1740G>C (n.*1740G>C) c.1156G>C (p.Ala386Pro) c.1018G>C (p.Ala340Pro) c.973+138G>C (n.973+138G>C) | |
| 3 | g.24127532C>T | CA351888546 | THRB | c.1111G>A (p.Ala371Thr) c.*1740G>A (n.*1740G>A) c.1156G>A (p.Ala386Thr) c.1018G>A (p.Ala340Thr) c.973+138G>A (n.973+138G>A) | |
| 3 | g.24127533T>A | CA432916227 | THRB | c.1110A>T (p.Val370=) c.*1739A>T (n.*1739A>T) c.1155A>T (p.Val385=) c.1017A>T (p.Val339=) c.973+137A>T (n.973+137A>T) | |
| 3 | g.24127533T>C | CA432916228 | THRB | c.1110A>G (p.Val370=) c.*1739A>G (n.*1739A>G) c.1155A>G (p.Val385=) c.1017A>G (p.Val339=) c.973+137A>G (n.973+137A>G) | |
| 3 | g.24127533T>G | CA432916229 | THRB | c.1110A>C (p.Val370=) c.*1739A>C (n.*1739A>C) c.1155A>C (p.Val385=) c.1017A>C (p.Val339=) c.973+137A>C (n.973+137A>C) | |
| 3 | g.24127534A>C | CA351888547 | THRB | c.1109T>G (p.Val370Gly) c.*1738T>G (n.*1738T>G) c.1154T>G (p.Val385Gly) c.1016T>G (p.Val339Gly) c.973+136T>G (n.973+136T>G) | |
| 3 | g.24127534A>G | CA351888548 | THRB | c.1109T>C (p.Val370Ala) c.*1738T>C (n.*1738T>C) c.1154T>C (p.Val385Ala) c.1016T>C (p.Val339Ala) c.973+136T>C (n.973+136T>C) | |
| 3 | g.24127534A>T | CA351888549 | THRB | c.1109T>A (p.Val370Glu) c.*1738T>A (n.*1738T>A) c.1154T>A (p.Val385Glu) c.1016T>A (p.Val339Glu) c.973+136T>A (n.973+136T>A) | |
| 3 | g.24127535C>A | CA351888550 | THRB | c.1108G>T (p.Val370Leu) c.*1737G>T (n.*1737G>T) c.1153G>T (p.Val385Leu) c.1015G>T (p.Val339Leu) c.973+135G>T (n.973+135G>T) | |
| 3 | g.24127535C= | CA1351825257 | THRB | c.1108G= (p.Val370=) c.*1737G= (n.*1737G=) c.1153G= (p.Val385=) c.1015G= (p.Val339=) c.973+135G= (n.973+135G=) | |
| 3 | g.24127535C>G | CA351888551 | THRB | c.1108G>C (p.Val370Leu) c.*1737G>C (n.*1737G>C) c.1153G>C (p.Val385Leu) c.1015G>C (p.Val339Leu) c.973+135G>C (n.973+135G>C) | |
| 3 | g.24127535C>T | CA351888552 | THRB | c.1108G>A (p.Val370Ile) c.*1737G>A (n.*1737G>A) c.1153G>A (p.Val385Ile) c.1015G>A (p.Val339Ile) c.973+135G>A (n.973+135G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127536T>A | CA351888553 | THRB | c.1107A>T (p.Glu369Asp) c.*1736A>T (n.*1736A>T) c.1152A>T (p.Glu384Asp) c.1014A>T (p.Glu338Asp) c.973+134A>T (n.973+134A>T) | |
| 3 | g.24127536T>C | CA2287125 | THRB | c.1107A>G (p.Glu369=) c.*1736A>G (n.*1736A>G) c.1152A>G (p.Glu384=) c.1014A>G (p.Glu338=) c.973+134A>G (n.973+134A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127536T>G | CA351888554 | THRB | c.1107A>C (p.Glu369Asp) c.*1736A>C (n.*1736A>C) c.1152A>C (p.Glu384Asp) c.1014A>C (p.Glu338Asp) c.973+134A>C (n.973+134A>C) | |
| 3 | g.24127536T= | CA1351825259 | THRB | c.1107A= (p.Glu369=) c.*1736A= (n.*1736A=) c.1152A= (p.Glu384=) c.1014A= (p.Glu338=) c.973+134A= (n.973+134A=) | |
| 3 | g.24127537T>A | CA351888555 | THRB | c.1106A>T (p.Glu369Val) c.*1735A>T (n.*1735A>T) c.1151A>T (p.Glu384Val) c.1013A>T (p.Glu338Val) c.973+133A>T (n.973+133A>T) | |
| 3 | g.24127537T>C | CA351888557 | THRB | c.1106A>G (p.Glu369Gly) c.*1735A>G (n.*1735A>G) c.1151A>G (p.Glu384Gly) c.1013A>G (p.Glu338Gly) c.973+133A>G (n.973+133A>G) | |
| 3 | g.24127537T>G | CA351888556 | THRB | c.1106A>C (p.Glu369Ala) c.*1735A>C (n.*1735A>C) c.1151A>C (p.Glu384Ala) c.1013A>C (p.Glu338Ala) c.973+133A>C (n.973+133A>C) | |
| 3 | g.24127538C>A | CA351888558 | THRB | c.1105G>T (p.Glu369Ter) c.*1734G>T (n.*1734G>T) c.1150G>T (p.Glu384Ter) c.1012G>T (p.Glu338Ter) c.973+132G>T (n.973+132G>T) | |
| 3 | g.24127538C>G | CA351888560 | THRB | c.1105G>C (p.Glu369Gln) c.*1734G>C (n.*1734G>C) c.1150G>C (p.Glu384Gln) c.1012G>C (p.Glu338Gln) c.973+132G>C (n.973+132G>C) | |
| 3 | g.24127538C>T | CA351888559 | THRB | c.1105G>A (p.Glu369Lys) c.*1734G>A (n.*1734G>A) c.1150G>A (p.Glu384Lys) c.1012G>A (p.Glu338Lys) c.973+132G>A (n.973+132G>A) | |
| 3 | g.24127539A= | CA1351825262 | THRB | c.1104T= (p.Thr368=) c.*1733T= (n.*1733T=) c.1149T= (p.Thr383=) c.1011T= (p.Thr337=) c.973+131T= (n.973+131T=) | |
| 3 | g.24127539A>C | CA432916235 | THRB | c.1104T>G (p.Thr368=) c.*1733T>G (n.*1733T>G) c.1149T>G (p.Thr383=) c.1011T>G (p.Thr337=) c.973+131T>G (n.973+131T>G) | |
| 3 | g.24127539A>G | CA432916236 | THRB | c.1104T>C (p.Thr368=) c.*1733T>C (n.*1733T>C) c.1149T>C (p.Thr383=) c.1011T>C (p.Thr337=) c.973+131T>C (n.973+131T>C) | dbSNP gnomAD v4 |
| 3 | g.24127539A>T | CA2287126 | THRB | c.1104T>A (p.Thr368=) c.*1733T>A (n.*1733T>A) c.1149T>A (p.Thr383=) c.1011T>A (p.Thr337=) c.973+131T>A (n.973+131T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127540G>A | CA2287127 | THRB | c.1103C>T (p.Thr368Ile) c.*1732C>T (n.*1732C>T) c.1148C>T (p.Thr383Ile) c.1010C>T (p.Thr337Ile) c.973+130C>T (n.973+130C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127540G>C | CA351888561 | THRB | c.1103C>G (p.Thr368Ser) c.*1732C>G (n.*1732C>G) c.1148C>G (p.Thr383Ser) c.1010C>G (p.Thr337Ser) c.973+130C>G (n.973+130C>G) | |
| 3 | g.24127540G= | CA1351825264 | THRB | c.1103C= (p.Thr368=) c.*1732C= (n.*1732C=) c.1148C= (p.Thr383=) c.1010C= (p.Thr337=) c.973+130C= (n.973+130C=) | |
| 3 | g.24127540G>T | CA351888562 | THRB | c.1103C>A (p.Thr368Asn) c.*1732C>A (n.*1732C>A) c.1148C>A (p.Thr383Asn) c.1010C>A (p.Thr337Asn) c.973+130C>A (n.973+130C>A) | |
| 3 | g.24127541T>A | CA351888563 | THRB | c.1102A>T (p.Thr368Ser) c.*1731A>T (n.*1731A>T) c.1147A>T (p.Thr383Ser) c.1009A>T (p.Thr337Ser) c.973+129A>T (n.973+129A>T) | |
| 3 | g.24127541T>C | CA351888564 | THRB | c.1102A>G (p.Thr368Ala) c.*1731A>G (n.*1731A>G) c.1147A>G (p.Thr383Ala) c.1009A>G (p.Thr337Ala) c.973+129A>G (n.973+129A>G) | |
| 3 | g.24127541T>G | CA351888565 | THRB | c.1102A>C (p.Thr368Pro) c.*1731A>C (n.*1731A>C) c.1147A>C (p.Thr383Pro) c.1009A>C (p.Thr337Pro) c.973+129A>C (n.973+129A>C) | |
| 3 | g.24127542G>A | CA432916239 | THRB | c.1101C>T (p.Asp367=) c.*1730C>T (n.*1730C>T) c.1146C>T (p.Asp382=) c.1008C>T (p.Asp336=) c.973+128C>T (n.973+128C>T) | |
| 3 | g.24127542G>C | CA351888566 | THRB | c.1101C>G (p.Asp367Glu) c.*1730C>G (n.*1730C>G) c.1146C>G (p.Asp382Glu) c.1008C>G (p.Asp336Glu) c.973+128C>G (n.973+128C>G) | |
| 3 | g.24127542G>T | CA351888567 | THRB | c.1101C>A (p.Asp367Glu) c.*1730C>A (n.*1730C>A) c.1146C>A (p.Asp382Glu) c.1008C>A (p.Asp336Glu) c.973+128C>A (n.973+128C>A) | |
| 3 | g.24127543T>A | CA351888568 | THRB | c.1100A>T (p.Asp367Val) c.*1729A>T (n.*1729A>T) c.1145A>T (p.Asp382Val) c.1007A>T (p.Asp336Val) c.973+127A>T (n.973+127A>T) | |
| 3 | g.24127543T>C | CA351888569 | THRB | c.1100A>G (p.Asp367Gly) c.*1729A>G (n.*1729A>G) c.1145A>G (p.Asp382Gly) c.1007A>G (p.Asp336Gly) c.973+127A>G (n.973+127A>G) | |
| 3 | g.24127543T>G | CA351888570 | THRB | c.1100A>C (p.Asp367Ala) c.*1729A>C (n.*1729A>C) c.1145A>C (p.Asp382Ala) c.1007A>C (p.Asp336Ala) c.973+127A>C (n.973+127A>C) | |
| 3 | g.24127544C>A | CA351888573 | THRB | c.1099G>T (p.Asp367Tyr) c.*1728G>T (n.*1728G>T) c.1144G>T (p.Asp382Tyr) c.1006G>T (p.Asp336Tyr) c.973+126G>T (n.973+126G>T) | |
| 3 | g.24127544C>G | CA351888571 | THRB | c.1099G>C (p.Asp367His) c.*1728G>C (n.*1728G>C) c.1144G>C (p.Asp382His) c.1006G>C (p.Asp336His) c.973+126G>C (n.973+126G>C) | |
| 3 | g.24127544C>T | CA351888572 | THRB | c.1099G>A (p.Asp367Asn) c.*1728G>A (n.*1728G>A) c.1144G>A (p.Asp382Asn) c.1006G>A (p.Asp336Asn) c.973+126G>A (n.973+126G>A) | COSMIC |
| 3 | g.24127545A= | CA1351825267 | THRB | c.1098T= (p.Asp366=) c.*1727T= (n.*1727T=) c.1143T= (p.Asp381=) c.1005T= (p.Asp335=) c.973+125T= (n.973+125T=) | |
| 3 | g.24127545A>C | CA351888574 | THRB | c.1098T>G (p.Asp366Glu) c.*1727T>G (n.*1727T>G) c.1143T>G (p.Asp381Glu) c.1005T>G (p.Asp335Glu) c.973+125T>G (n.973+125T>G) | |
| 3 | g.24127545A>G | CA432916244 | THRB | c.1098T>C (p.Asp366=) c.*1727T>C (n.*1727T>C) c.1143T>C (p.Asp381=) c.1005T>C (p.Asp335=) c.973+125T>C (n.973+125T>C) | dbSNP |
| 3 | g.24127545A>T | CA351888575 | THRB | c.1098T>A (p.Asp366Glu) c.*1727T>A (n.*1727T>A) c.1143T>A (p.Asp381Glu) c.1005T>A (p.Asp335Glu) c.973+125T>A (n.973+125T>A) | |
| 3 | g.24127546T>A | CA351888576 | THRB | c.1097A>T (p.Asp366Val) c.*1726A>T (n.*1726A>T) c.1142A>T (p.Asp381Val) c.1004A>T (p.Asp335Val) c.973+124A>T (n.973+124A>T) | |
| 3 | g.24127546T>C | CA351888577 | THRB | c.1097A>G (p.Asp366Gly) c.*1726A>G (n.*1726A>G) c.1142A>G (p.Asp381Gly) c.1004A>G (p.Asp335Gly) c.973+124A>G (n.973+124A>G) | |
| 3 | g.24127546T>G | CA351888578 | THRB | c.1097A>C (p.Asp366Ala) c.*1726A>C (n.*1726A>C) c.1142A>C (p.Asp381Ala) c.1004A>C (p.Asp335Ala) c.973+124A>C (n.973+124A>C) | |
| 3 | g.24127547C>A | CA351888579 | THRB | c.1096G>T (p.Asp366Tyr) c.*1725G>T (n.*1725G>T) c.1141G>T (p.Asp381Tyr) c.1003G>T (p.Asp335Tyr) c.973+123G>T (n.973+123G>T) | |
| 3 | g.24127547C>G | CA351888580 | THRB | c.1096G>C (p.Asp366His) c.*1725G>C (n.*1725G>C) c.1141G>C (p.Asp381His) c.1003G>C (p.Asp335His) c.973+123G>C (n.973+123G>C) | |
| 3 | g.24127547C>T | CA351888581 | THRB | c.1096G>A (p.Asp366Asn) c.*1725G>A (n.*1725G>A) c.1141G>A (p.Asp381Asn) c.1003G>A (p.Asp335Asn) c.973+123G>A (n.973+123G>A) | |
| 3 | g.24127548C>A | CA432916246 | THRB | c.1095G>T (p.Leu365=) c.*1724G>T (n.*1724G>T) c.1140G>T (p.Leu380=) c.1002G>T (p.Leu334=) c.973+122G>T (n.973+122G>T) | |
| 3 | g.24127548C>G | CA432916247 | THRB | c.1095G>C (p.Leu365=) c.*1724G>C (n.*1724G>C) c.1140G>C (p.Leu380=) c.1002G>C (p.Leu334=) c.973+122G>C (n.973+122G>C) | |
| 3 | g.24127548C>T | CA432916248 | THRB | c.1095G>A (p.Leu365=) c.*1724G>A (n.*1724G>A) c.1140G>A (p.Leu380=) c.1002G>A (p.Leu334=) c.973+122G>A (n.973+122G>A) | |
| 3 | g.24127549A>C | CA351888582 | THRB | c.1094T>G (p.Leu365Arg) c.*1723T>G (n.*1723T>G) c.1139T>G (p.Leu380Arg) c.1001T>G (p.Leu334Arg) c.973+121T>G (n.973+121T>G) | |
| 3 | g.24127549A>G | CA351888583 | THRB | c.1094T>C (p.Leu365Pro) c.*1723T>C (n.*1723T>C) c.1139T>C (p.Leu380Pro) c.1001T>C (p.Leu334Pro) c.973+121T>C (n.973+121T>C) | |
| 3 | g.24127549A>T | CA351888584 | THRB | c.1094T>A (p.Leu365Gln) c.*1723T>A (n.*1723T>A) c.1139T>A (p.Leu380Gln) c.1001T>A (p.Leu334Gln) c.973+121T>A (n.973+121T>A) | |
| 3 | g.24127550G>A | CA432916249 | THRB | c.1093C>T (p.Leu365=) c.*1722C>T (n.*1722C>T) c.1138C>T (p.Leu380=) c.1000C>T (p.Leu334=) c.973+120C>T (n.973+120C>T) | |
| 3 | g.24127550G>C | CA2287128 | THRB | c.1093C>G (p.Leu365Val) c.*1722C>G (n.*1722C>G) c.1138C>G (p.Leu380Val) c.1000C>G (p.Leu334Val) c.973+120C>G (n.973+120C>G) | dbSNP ExAC gnomAD v2 |
| 3 | g.24127550G= | CA1351825270 | THRB | c.1093C= (p.Leu365=) c.*1722C= (n.*1722C=) c.1138C= (p.Leu380=) c.1000C= (p.Leu334=) c.973+120C= (n.973+120C=) | |
| 3 | g.24127550G>T | CA351888585 | THRB | c.1093C>A (p.Leu365Met) c.*1722C>A (n.*1722C>A) c.1138C>A (p.Leu380Met) c.1000C>A (p.Leu334Met) c.973+120C>A (n.973+120C>A) | |
| 3 | g.24127551G>A | CA432916251 | THRB | c.1092C>T (p.Asn364=) c.*1721C>T (n.*1721C>T) c.1137C>T (p.Asn379=) c.999C>T (p.Asn333=) c.973+119C>T (n.973+119C>T) | |
| 3 | g.24127551G>C | CA351888586 | THRB | c.1092C>G (p.Asn364Lys) c.*1721C>G (n.*1721C>G) c.1137C>G (p.Asn379Lys) c.999C>G (p.Asn333Lys) c.973+119C>G (n.973+119C>G) | |
| 3 | g.24127551G>T | CA351888587 | THRB | c.1092C>A (p.Asn364Lys) c.*1721C>A (n.*1721C>A) c.1137C>A (p.Asn379Lys) c.999C>A (p.Asn333Lys) c.973+119C>A (n.973+119C>A) | |
| 3 | g.24127552T>A | CA351888588 | THRB | c.1091A>T (p.Asn364Ile) c.*1720A>T (n.*1720A>T) c.1136A>T (p.Asn379Ile) c.998A>T (p.Asn333Ile) c.973+118A>T (n.973+118A>T) | |
| 3 | g.24127552T>C | CA351888589 | THRB | c.1091A>G (p.Asn364Ser) c.*1720A>G (n.*1720A>G) c.1136A>G (p.Asn379Ser) c.998A>G (p.Asn333Ser) c.973+118A>G (n.973+118A>G) | |
| 3 | g.24127552T>G | CA351888590 | THRB | c.1091A>C (p.Asn364Thr) c.*1720A>C (n.*1720A>C) c.1136A>C (p.Asn379Thr) c.998A>C (p.Asn333Thr) c.973+118A>C (n.973+118A>C) | |
| 3 | g.24127553T>A | CA351888591 | THRB | c.1090A>T (p.Asn364Tyr) c.*1719A>T (n.*1719A>T) c.1135A>T (p.Asn379Tyr) c.997A>T (p.Asn333Tyr) c.973+117A>T (n.973+117A>T) | |
| 3 | g.24127553T>C | CA351888592 | THRB | c.1090A>G (p.Asn364Asp) c.*1719A>G (n.*1719A>G) c.1135A>G (p.Asn379Asp) c.997A>G (p.Asn333Asp) c.973+117A>G (n.973+117A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127553T>G | CA351888593 | THRB | c.1090A>C (p.Asn364His) c.*1719A>C (n.*1719A>C) c.1135A>C (p.Asn379His) c.997A>C (p.Asn333His) c.973+117A>C (n.973+117A>C) | |
| 3 | g.24127553T= | CA1351825274 | THRB | c.1090A= (p.Asn364=) c.*1719A= (n.*1719A=) c.1135A= (p.Asn379=) c.997A= (p.Asn333=) c.973+117A= (n.973+117A=) | |
| 3 | g.24127554G>A | CA432916253 | THRB | c.1089C>T (p.Phe363=) c.*1718C>T (n.*1718C>T) c.1134C>T (p.Phe378=) c.996C>T (p.Phe332=) c.973+116C>T (n.973+116C>T) | |
| 3 | g.24127554G>C | CA351888594 | THRB | c.1089C>G (p.Phe363Leu) c.*1718C>G (n.*1718C>G) c.1134C>G (p.Phe378Leu) c.996C>G (p.Phe332Leu) c.973+116C>G (n.973+116C>G) | |
| 3 | g.24127554G>T | CA351888595 | THRB | c.1089C>A (p.Phe363Leu) c.*1718C>A (n.*1718C>A) c.1134C>A (p.Phe378Leu) c.996C>A (p.Phe332Leu) c.973+116C>A (n.973+116C>A) | |
| 3 | g.24127555A>C | CA351888596 | THRB | c.1088T>G (p.Phe363Cys) c.*1717T>G (n.*1717T>G) c.1133T>G (p.Phe378Cys) c.995T>G (p.Phe332Cys) c.973+115T>G (n.973+115T>G) | |
| 3 | g.24127555A>G | CA351888597 | THRB | c.1088T>C (p.Phe363Ser) c.*1717T>C (n.*1717T>C) c.1133T>C (p.Phe378Ser) c.995T>C (p.Phe332Ser) c.973+115T>C (n.973+115T>C) | |
| 3 | g.24127555A>T | CA351888598 | THRB | c.1088T>A (p.Phe363Tyr) c.*1717T>A (n.*1717T>A) c.1133T>A (p.Phe378Tyr) c.995T>A (p.Phe332Tyr) c.973+115T>A (n.973+115T>A) | |
| 3 | g.24127556A>C | CA351888601 | THRB | c.1087T>G (p.Phe363Val) c.*1716T>G (n.*1716T>G) c.1132T>G (p.Phe378Val) c.994T>G (p.Phe332Val) c.973+114T>G (n.973+114T>G) | |
| 3 | g.24127556A>G | CA351888599 | THRB | c.1087T>C (p.Phe363Leu) c.*1716T>C (n.*1716T>C) c.1132T>C (p.Phe378Leu) c.994T>C (p.Phe332Leu) c.973+114T>C (n.973+114T>C) | |
| 3 | g.24127556A>T | CA351888600 | THRB | c.1087T>A (p.Phe363Ile) c.*1716T>A (n.*1716T>A) c.1132T>A (p.Phe378Ile) c.994T>A (p.Phe332Ile) c.973+114T>A (n.973+114T>A) | |
| 3 | g.24127557A>C | CA432916256 | THRB | c.1086T>G (p.Ser362=) c.*1715T>G (n.*1715T>G) c.1131T>G (p.Ser377=) c.993T>G (p.Ser331=) c.973+113T>G (n.973+113T>G) | |
| 3 | g.24127557A>G | CA432916257 | THRB | c.1086T>C (p.Ser362=) c.*1715T>C (n.*1715T>C) c.1131T>C (p.Ser377=) c.993T>C (p.Ser331=) c.973+113T>C (n.973+113T>C) | gnomAD v4 |
| 3 | g.24127557A>T | CA432916258 | THRB | c.1086T>A (p.Ser362=) c.*1715T>A (n.*1715T>A) c.1131T>A (p.Ser377=) c.993T>A (p.Ser331=) c.973+113T>A (n.973+113T>A) | |
| 3 | g.24127558G>A | CA351888602 | THRB | c.1085C>T (p.Ser362Phe) c.*1714C>T (n.*1714C>T) c.1130C>T (p.Ser377Phe) c.992C>T (p.Ser331Phe) c.973+112C>T (n.973+112C>T) | |
| 3 | g.24127558G>C | CA351888603 | THRB | c.1085C>G (p.Ser362Cys) c.*1714C>G (n.*1714C>G) c.1130C>G (p.Ser377Cys) c.992C>G (p.Ser331Cys) c.973+112C>G (n.973+112C>G) | |
| 3 | g.24127558G>T | CA351888604 | THRB | c.1085C>A (p.Ser362Tyr) c.*1714C>A (n.*1714C>A) c.1130C>A (p.Ser377Tyr) c.992C>A (p.Ser331Tyr) c.973+112C>A (n.973+112C>A) | COSMIC |
| 3 | g.24127559A>C | CA351888605 | THRB | c.1084T>G (p.Ser362Ala) c.*1713T>G (n.*1713T>G) c.1129T>G (p.Ser377Ala) c.991T>G (p.Ser331Ala) c.973+111T>G (n.973+111T>G) | |
| 3 | g.24127559A>G | CA351888606 | THRB | c.1084T>C (p.Ser362Pro) c.*1713T>C (n.*1713T>C) c.1129T>C (p.Ser377Pro) c.991T>C (p.Ser331Pro) c.973+111T>C (n.973+111T>C) | |
| 3 | g.24127559A>T | CA351888607 | THRB | c.1084T>A (p.Ser362Thr) c.*1713T>A (n.*1713T>A) c.1129T>A (p.Ser377Thr) c.991T>A (p.Ser331Thr) c.973+111T>A (n.973+111T>A) | |
| 3 | g.24127560A>C | CA432916260 | THRB | c.1083T>G (p.Ser361=) c.*1712T>G (n.*1712T>G) c.1128T>G (p.Ser376=) c.990T>G (p.Ser330=) c.973+110T>G (n.973+110T>G) | |
| 3 | g.24127560A>G | CA432916261 | THRB | c.1083T>C (p.Ser361=) c.*1712T>C (n.*1712T>C) c.1128T>C (p.Ser376=) c.990T>C (p.Ser330=) c.973+110T>C (n.973+110T>C) | |
| 3 | g.24127560A>T | CA432916262 | THRB | c.1083T>A (p.Ser361=) c.*1712T>A (n.*1712T>A) c.1128T>A (p.Ser376=) c.990T>A (p.Ser330=) c.973+110T>A (n.973+110T>A) | |
| 3 | g.24127561G>A | CA351888608 | THRB | c.1082C>T (p.Ser361Phe) c.*1711C>T (n.*1711C>T) c.1127C>T (p.Ser376Phe) c.989C>T (p.Ser330Phe) c.973+109C>T (n.973+109C>T) | |
| 3 | g.24127561G>C | CA351888609 | THRB | c.1082C>G (p.Ser361Cys) c.*1711C>G (n.*1711C>G) c.1127C>G (p.Ser376Cys) c.989C>G (p.Ser330Cys) c.973+109C>G (n.973+109C>G) | gnomAD v4 |
| 3 | g.24127561G>T | CA351888610 | THRB | c.1082C>A (p.Ser361Tyr) c.*1711C>A (n.*1711C>A) c.1127C>A (p.Ser376Tyr) c.989C>A (p.Ser330Tyr) c.973+109C>A (n.973+109C>A) | |
| 3 | g.24127562A>C | CA351888611 | THRB | c.1081T>G (p.Ser361Ala) c.*1710T>G (n.*1710T>G) c.1126T>G (p.Ser376Ala) c.988T>G (p.Ser330Ala) c.973+108T>G (n.973+108T>G) | |
| 3 | g.24127562A>G | CA351888612 | THRB | c.1081T>C (p.Ser361Pro) c.*1710T>C (n.*1710T>C) c.1126T>C (p.Ser376Pro) c.988T>C (p.Ser330Pro) c.973+108T>C (n.973+108T>C) | |
| 3 | g.24127562A>T | CA351888613 | THRB | c.1081T>A (p.Ser361Thr) c.*1710T>A (n.*1710T>A) c.1126T>A (p.Ser376Thr) c.988T>A (p.Ser330Thr) c.973+108T>A (n.973+108T>A) | |
| 3 | g.24127563C>A | CA432916263 | THRB | c.1080G>T (p.Leu360=) c.*1709G>T (n.*1709G>T) c.1125G>T (p.Leu375=) c.987G>T (p.Leu329=) c.973+107G>T (n.973+107G>T) | dbSNP |
| 3 | g.24127563C= | CA1351825275 | THRB | c.1080G= (p.Leu360=) c.*1709G= (n.*1709G=) c.1125G= (p.Leu375=) c.987G= (p.Leu329=) c.973+107G= (n.973+107G=) | |
| 3 | g.24127563C>G | CA432916264 | THRB | c.1080G>C (p.Leu360=) c.*1709G>C (n.*1709G>C) c.1125G>C (p.Leu375=) c.987G>C (p.Leu329=) c.973+107G>C (n.973+107G>C) | gnomAD v4 |
| 3 | g.24127563C>T | CA2287129 | THRB | c.1080G>A (p.Leu360=) c.*1709G>A (n.*1709G>A) c.1125G>A (p.Leu375=) c.987G>A (p.Leu329=) c.973+107G>A (n.973+107G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127563_24127565delinsCAG | CA1351825276 | THRB | c.1078_1080delinsCTG (p.Leu360=) c.*1707_*1709delinsCTG (n.*1707_*1709delinsCTG) c.1123_1125delinsCTG (p.Leu375=) c.985_987delinsCTG (p.Leu329=) c.973+105_973+107delinsCTG (n.973+105_973+107delinsCTG) | |
| 3 | g.24127564A>C | CA351888615 | THRB | c.1079T>G (p.Leu360Arg) c.*1708T>G (n.*1708T>G) c.1124T>G (p.Leu375Arg) c.986T>G (p.Leu329Arg) c.973+106T>G (n.973+106T>G) | |
| 3 | g.24127564A>G | CA351888614 | THRB | c.1079T>C (p.Leu360Pro) c.*1708T>C (n.*1708T>C) c.1124T>C (p.Leu375Pro) c.986T>C (p.Leu329Pro) c.973+106T>C (n.973+106T>C) | |
| 3 | g.24127564A>T | CA351888616 | THRB | c.1079T>A (p.Leu360Gln) c.*1708T>A (n.*1708T>A) c.1124T>A (p.Leu375Gln) c.986T>A (p.Leu329Gln) c.973+106T>A (n.973+106T>A) | |
| 3 | g.24127567_24127568del | CA1351825280 | THRB | c.1078_1079del (p.Leu360ValfsTer7) c.*1707_*1708del (n.*1707_*1708del) c.1123_1124del (p.Leu375ValfsTer7) c.985_986del (p.Leu329ValfsTer7) c.973+105_973+106del (n.973+105_973+106del) | dbSNP |
| 3 | g.24127565G>A | CA2287130 | THRB | c.1078C>T (p.Leu360=) c.*1707C>T (n.*1707C>T) c.1123C>T (p.Leu375=) c.985C>T (p.Leu329=) c.973+105C>T (n.973+105C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127565G>C | CA351888618 | THRB | c.1078C>G (p.Leu360Val) c.*1707C>G (n.*1707C>G) c.1123C>G (p.Leu375Val) c.985C>G (p.Leu329Val) c.973+105C>G (n.973+105C>G) | |
| 3 | g.24127565G= | CA1351825281 | THRB | c.1078C= (p.Leu360=) c.*1707C= (n.*1707C=) c.1123C= (p.Leu375=) c.985C= (p.Leu329=) c.973+105C= (n.973+105C=) | |
| 3 | g.24127565G>T | CA351888617 | THRB | c.1078C>A (p.Leu360Met) c.*1707C>A (n.*1707C>A) c.1123C>A (p.Leu375Met) c.985C>A (p.Leu329Met) c.973+105C>A (n.973+105C>A) | COSMIC |
| 3 | g.24127566A= | CA1351825284 | THRB | c.1077T= (p.Ser359=) c.*1706T= (n.*1706T=) c.1122T= (p.Ser374=) c.984T= (p.Ser328=) c.973+104T= (n.973+104T=) | |
| 3 | g.24127566A>C | CA432916267 | THRB | c.1077T>G (p.Ser359=) c.*1706T>G (n.*1706T>G) c.1122T>G (p.Ser374=) c.984T>G (p.Ser328=) c.973+104T>G (n.973+104T>G) | |
| 3 | g.24127566A>G | CA432916268 | THRB | c.1077T>C (p.Ser359=) c.*1706T>C (n.*1706T>C) c.1122T>C (p.Ser374=) c.984T>C (p.Ser328=) c.973+104T>C (n.973+104T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127566A>T | CA432916269 | THRB | c.1077T>A (p.Ser359=) c.*1706T>A (n.*1706T>A) c.1122T>A (p.Ser374=) c.984T>A (p.Ser328=) c.973+104T>A (n.973+104T>A) | |
| 3 | g.24127567G>A | CA351888619 | THRB | c.1076C>T (p.Ser359Phe) c.*1705C>T (n.*1705C>T) c.1121C>T (p.Ser374Phe) c.983C>T (p.Ser328Phe) c.973+103C>T (n.973+103C>T) | ClinVar dbSNP |
| 3 | g.24127567G>C | CA351888620 | THRB | c.1076C>G (p.Ser359Cys) c.*1705C>G (n.*1705C>G) c.1121C>G (p.Ser374Cys) c.983C>G (p.Ser328Cys) c.973+103C>G (n.973+103C>G) | |
| 3 | g.24127567G= | CA1351825288 | THRB | c.1076C= (p.Ser359=) c.*1705C= (n.*1705C=) c.1121C= (p.Ser374=) c.983C= (p.Ser328=) c.973+103C= (n.973+103C=) | |
| 3 | g.24127567G>T | CA351888621 | THRB | c.1076C>A (p.Ser359Tyr) c.*1705C>A (n.*1705C>A) c.1121C>A (p.Ser374Tyr) c.983C>A (p.Ser328Tyr) c.973+103C>A (n.973+103C>A) | |
| 3 | g.24127568A>C | CA351888622 | THRB | c.1075T>G (p.Ser359Ala) c.*1704T>G (n.*1704T>G) c.1120T>G (p.Ser374Ala) c.982T>G (p.Ser328Ala) c.973+102T>G (n.973+102T>G) | |
| 3 | g.24127568A>G | CA351888623 | THRB | c.1075T>C (p.Ser359Pro) c.*1704T>C (n.*1704T>C) c.1120T>C (p.Ser374Pro) c.982T>C (p.Ser328Pro) c.973+102T>C (n.973+102T>C) | gnomAD v4 |
| 3 | g.24127568A>T | CA351888624 | THRB | c.1075T>A (p.Ser359Thr) c.*1704T>A (n.*1704T>A) c.1120T>A (p.Ser374Thr) c.982T>A (p.Ser328Thr) c.973+102T>A (n.973+102T>A) | |
| 3 | g.24127569C>A | CA351888625 | THRB | c.1074G>T (p.Met358Ile) c.*1703G>T (n.*1703G>T) c.1119G>T (p.Met373Ile) c.981G>T (p.Met327Ile) c.973+101G>T (n.973+101G>T) | |
| 3 | g.24127569C>G | CA351888626 | THRB | c.1074G>C (p.Met358Ile) c.*1703G>C (n.*1703G>C) c.1119G>C (p.Met373Ile) c.981G>C (p.Met327Ile) c.973+101G>C (n.973+101G>C) | |
| 3 | g.24127569C>T | CA351888627 | THRB | c.1074G>A (p.Met358Ile) c.*1703G>A (n.*1703G>A) c.1119G>A (p.Met373Ile) c.981G>A (p.Met327Ile) c.973+101G>A (n.973+101G>A) | gnomAD v4 |
| 3 | g.24127570A>C | CA351888628 | THRB | c.1073T>G (p.Met358Arg) c.*1702T>G (n.*1702T>G) c.1118T>G (p.Met373Arg) c.980T>G (p.Met327Arg) c.973+100T>G (n.973+100T>G) | |
| 3 | g.24127570A>G | CA351888629 | THRB | c.1073T>C (p.Met358Thr) c.*1702T>C (n.*1702T>C) c.1118T>C (p.Met373Thr) c.980T>C (p.Met327Thr) c.973+100T>C (n.973+100T>C) | gnomAD v4 |
| 3 | g.24127570A>T | CA351888630 | THRB | c.1073T>A (p.Met358Lys) c.*1702T>A (n.*1702T>A) c.1118T>A (p.Met373Lys) c.980T>A (p.Met327Lys) c.973+100T>A (n.973+100T>A) | |
| 3 | g.24127571T>A | CA351888633 | THRB | c.1072A>T (p.Met358Leu) c.*1701A>T (n.*1701A>T) c.1117A>T (p.Met373Leu) c.979A>T (p.Met327Leu) c.973+99A>T (n.973+99A>T) | |
| 3 | g.24127571T>C | CA351888632 | THRB | c.1072A>G (p.Met358Val) c.*1701A>G (n.*1701A>G) c.1117A>G (p.Met373Val) c.979A>G (p.Met327Val) c.973+99A>G (n.973+99A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24127571T>G | CA351888631 | THRB | c.1072A>C (p.Met358Leu) c.*1701A>C (n.*1701A>C) c.1117A>C (p.Met373Leu) c.979A>C (p.Met327Leu) c.973+99A>C (n.973+99A>C) | |
| 3 | g.24127571T= | CA1351825289 | THRB | c.1072A= (p.Met358=) c.*1701A= (n.*1701A=) c.1117A= (p.Met373=) c.979A= (p.Met327=) c.973+99A= (n.973+99A=) | |
| 3 | g.24127572G>A | CA432916276 | THRB | c.1071C>T (p.Gly357=) c.*1700C>T (n.*1700C>T) c.1116C>T (p.Gly372=) c.978C>T (p.Gly326=) c.973+98C>T (n.973+98C>T) | dbSNP |
| 3 | g.24127572G>C | CA432916278 | THRB | c.1071C>G (p.Gly357=) c.*1700C>G (n.*1700C>G) c.1116C>G (p.Gly372=) c.978C>G (p.Gly326=) c.973+98C>G (n.973+98C>G) | |
| 3 | g.24127572G= | CA1351825291 | THRB | c.1071C= (p.Gly357=) c.*1700C= (n.*1700C=) c.1116C= (p.Gly372=) c.978C= (p.Gly326=) c.973+98C= (n.973+98C=) | |
| 3 | g.24127572G>T | CA432916277 | THRB | c.1071C>A (p.Gly357=) c.*1700C>A (n.*1700C>A) c.1116C>A (p.Gly372=) c.978C>A (p.Gly326=) c.973+98C>A (n.973+98C>A) | |
| 3 | g.24127573C>A | CA351888634 | THRB | c.1070G>T (p.Gly357Val) c.*1699G>T (n.*1699G>T) c.1115G>T (p.Gly372Val) c.977G>T (p.Gly326Val) c.973+97G>T (n.973+97G>T) | |
| 3 | g.24127573C>G | CA351888635 | THRB | c.1070G>C (p.Gly357Ala) c.*1699G>C (n.*1699G>C) c.1115G>C (p.Gly372Ala) c.977G>C (p.Gly326Ala) c.973+97G>C (n.973+97G>C) | |
| 3 | g.24127573C>T | CA351888636 | THRB | c.1070G>A (p.Gly357Asp) c.*1699G>A (n.*1699G>A) c.1115G>A (p.Gly372Asp) c.977G>A (p.Gly326Asp) c.973+97G>A (n.973+97G>A) | |
| 3 | g.24127574C>A | CA351888637 | THRB | c.1069G>T (p.Gly357Cys) c.*1698G>T (n.*1698G>T) c.1114G>T (p.Gly372Cys) c.976G>T (p.Gly326Cys) c.973+96G>T (n.973+96G>T) | |
| 3 | g.24127574C>G | CA351888638 | THRB | c.1069G>C (p.Gly357Arg) c.*1698G>C (n.*1698G>C) c.1114G>C (p.Gly372Arg) c.976G>C (p.Gly326Arg) c.973+96G>C (n.973+96G>C) | |
| 3 | g.24127574C>T | CA351888639 | THRB | c.1069G>A (p.Gly357Ser) c.*1698G>A (n.*1698G>A) c.1114G>A (p.Gly372Ser) c.976G>A (p.Gly326Ser) c.973+96G>A (n.973+96G>A) | |
| 3 | g.24127575C>A | CA432916282 | THRB | c.1068G>T (p.Leu356=) c.*1697G>T (n.*1697G>T) c.1113G>T (p.Leu371=) c.975G>T (p.Leu325=) c.973+95G>T (n.973+95G>T) | |
| 3 | g.24127575C= | CA1351825295 | THRB | c.1068G= (p.Leu356=) c.*1697G= (n.*1697G=) c.1113G= (p.Leu371=) c.975G= (p.Leu325=) c.973+95G= (n.973+95G=) | |
| 3 | g.24127575C>G | CA432916283 | THRB | c.1068G>C (p.Leu356=) c.*1697G>C (n.*1697G>C) c.1113G>C (p.Leu371=) c.975G>C (p.Leu325=) c.973+95G>C (n.973+95G>C) | |
| 3 | g.24127575C>T | CA432916284 | THRB | c.1068G>A (p.Leu356=) c.*1697G>A (n.*1697G>A) c.1113G>A (p.Leu371=) c.975G>A (p.Leu325=) c.973+95G>A (n.973+95G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.24127576A>C | CA351888640 | THRB | c.1067T>G (p.Leu356Arg) c.*1696T>G (n.*1696T>G) c.1112T>G (p.Leu371Arg) c.974T>G (p.Leu325Arg) c.973+94T>G (n.973+94T>G) | |
| 3 | g.24127576A>G | CA351888641 | THRB | c.1067T>C (p.Leu356Pro) c.*1696T>C (n.*1696T>C) c.1112T>C (p.Leu371Pro) c.974T>C (p.Leu325Pro) c.973+94T>C (n.973+94T>C) | |
| 3 | g.24127576A>T | CA351888642 | THRB | c.1067T>A (p.Leu356Gln) c.*1696T>A (n.*1696T>A) c.1112T>A (p.Leu371Gln) c.974T>A (p.Leu325Gln) c.973+94T>A (n.973+94T>A) | |
| 3 | g.24127577G>A | CA432916287 | THRB | c.1066C>T (p.Leu356=) c.*1695C>T (n.*1695C>T) c.1111C>T (p.Leu371=) c.973C>T (p.Leu325=) c.973+93C>T (n.973+93C>T) | gnomAD v4 |
| 3 | g.24127577G>C | CA351888643 | THRB | c.1066C>G (p.Leu356Val) c.*1695C>G (n.*1695C>G) c.1111C>G (p.Leu371Val) c.973C>G (p.Leu325Val) c.973+93C>G (n.973+93C>G) | |
| 3 | g.24127577G>T | CA351888644 | THRB | c.1066C>A (p.Leu356Met) c.*1695C>A (n.*1695C>A) c.1111C>A (p.Leu371Met) c.973C>A (p.Leu325Met) c.973+93C>A (n.973+93C>A) | |
| 3 | g.24127578G>A | CA432916288 | THRB | c.1065C>T (p.Asp355=) c.*1694C>T (n.*1694C>T) c.1110C>T (p.Asp370=) c.972C>T (p.Asp324=) c.973+92C>T (n.973+92C>T) | |
| 3 | g.24127578G>C | CA351888645 | THRB | c.1065C>G (p.Asp355Glu) c.*1694C>G (n.*1694C>G) c.1110C>G (p.Asp370Glu) c.972C>G (p.Asp324Glu) c.973+92C>G (n.973+92C>G) | |
| 3 | g.24127578G>T | CA351888646 | THRB | c.1065C>A (p.Asp355Glu) c.*1694C>A (n.*1694C>A) c.1110C>A (p.Asp370Glu) c.972C>A (p.Asp324Glu) c.973+92C>A (n.973+92C>A) | gnomAD v4 |
| 3 | g.24127579T>A | CA351888648 | THRB | c.1064A>T (p.Asp355Val) c.*1693A>T (n.*1693A>T) c.1109A>T (p.Asp370Val) c.971A>T (p.Asp324Val) c.973+91A>T (n.973+91A>T) | |
| 3 | g.24127579T>C | CA351888649 | THRB | c.1064A>G (p.Asp355Gly) c.*1693A>G (n.*1693A>G) c.1109A>G (p.Asp370Gly) c.971A>G (p.Asp324Gly) c.973+91A>G (n.973+91A>G) | |
| 3 | g.24127579T>G | CA351888647 | THRB | c.1064A>C (p.Asp355Ala) c.*1693A>C (n.*1693A>C) c.1109A>C (p.Asp370Ala) c.971A>C (p.Asp324Ala) c.973+91A>C (n.973+91A>C) | |
| 3 | g.24127580C>A | CA351888650 | THRB | c.1063G>T (p.Asp355Tyr) c.*1692G>T (n.*1692G>T) c.1108G>T (p.Asp370Tyr) c.970G>T (p.Asp324Tyr) c.973+90G>T (n.973+90G>T) | |
| 3 | g.24127580C>G | CA351888651 | THRB | c.1063G>C (p.Asp355His) c.*1692G>C (n.*1692G>C) c.1108G>C (p.Asp370His) c.970G>C (p.Asp324His) c.973+90G>C (n.973+90G>C) | |
| 3 | g.24127580C>T | CA351888652 | THRB | c.1063G>A (p.Asp355Asn) c.*1692G>A (n.*1692G>A) c.1108G>A (p.Asp370Asn) c.970G>A (p.Asp324Asn) c.973+90G>A (n.973+90G>A) | |
| 3 | g.24127581A>C | CA351888653 | THRB | c.1062T>G (p.Phe354Leu) c.*1691T>G (n.*1691T>G) c.1107T>G (p.Phe369Leu) c.969T>G (p.Phe323Leu) c.973+89T>G (n.973+89T>G) | |
| 3 | g.24127581A>G | CA432916296 | THRB | c.1062T>C (p.Phe354=) c.*1691T>C (n.*1691T>C) c.1107T>C (p.Phe369=) c.969T>C (p.Phe323=) c.973+89T>C (n.973+89T>C) | |
| 3 | g.24127581A>T | CA351888654 | THRB | c.1062T>A (p.Phe354Leu) c.*1691T>A (n.*1691T>A) c.1107T>A (p.Phe369Leu) c.969T>A (p.Phe323Leu) c.973+89T>A (n.973+89T>A) | |
| 3 | g.24127582A= | CA1351825296 | THRB | c.1061T= (p.Phe354=) c.*1690T= (n.*1690T=) c.1106T= (p.Phe369=) c.968T= (p.Phe323=) c.973+88T= (n.973+88T=) | |
| 3 | g.24127582A>C | CA351888655 | THRB | c.1061T>G (p.Phe354Cys) c.*1690T>G (n.*1690T>G) c.1106T>G (p.Phe369Cys) c.968T>G (p.Phe323Cys) c.973+88T>G (n.973+88T>G) | ClinVar dbSNP |
| 3 | g.24127582A>G | CA351888656 | THRB | c.1061T>C (p.Phe354Ser) c.*1690T>C (n.*1690T>C) c.1106T>C (p.Phe369Ser) c.968T>C (p.Phe323Ser) c.973+88T>C (n.973+88T>C) | |
| 3 | g.24127582A>T | CA351888657 | THRB | c.1061T>A (p.Phe354Tyr) c.*1690T>A (n.*1690T>A) c.1106T>A (p.Phe369Tyr) c.968T>A (p.Phe323Tyr) c.973+88T>A (n.973+88T>A) | |
| 3 | g.24127583A>C | CA351888658 | THRB | c.1060T>G (p.Phe354Val) c.*1689T>G (n.*1689T>G) c.1105T>G (p.Phe369Val) c.967T>G (p.Phe323Val) c.973+87T>G (n.973+87T>G) | |
| 3 | g.24127583A>G | CA351888659 | THRB | c.1060T>C (p.Phe354Leu) c.*1689T>C (n.*1689T>C) c.1105T>C (p.Phe369Leu) c.967T>C (p.Phe323Leu) c.973+87T>C (n.973+87T>C) | |
| 3 | g.24127583A>T | CA351888660 | THRB | c.1060T>A (p.Phe354Ile) c.*1689T>A (n.*1689T>A) c.1105T>A (p.Phe369Ile) c.967T>A (p.Phe323Ile) c.973+87T>A (n.973+87T>A) | |
| 3 | g.24127584G>A | CA432916301 | THRB | c.1059C>T (p.Ile353=) c.*1688C>T (n.*1688C>T) c.1104C>T (p.Ile368=) c.966C>T (p.Ile322=) c.973+86C>T (n.973+86C>T) | |
| 3 | g.24127584G>C | CA351888661 | THRB | c.1059C>G (p.Ile353Met) c.*1688C>G (n.*1688C>G) c.1104C>G (p.Ile368Met) c.966C>G (p.Ile322Met) c.973+86C>G (n.973+86C>G) | |
| 3 | g.24127584G>T | CA432916302 | THRB | c.1059C>A (p.Ile353=) c.*1688C>A (n.*1688C>A) c.1104C>A (p.Ile368=) c.966C>A (p.Ile322=) c.973+86C>A (n.973+86C>A) | COSMIC |
| 3 | g.24127585A>C | CA351888662 | THRB | c.1058T>G (p.Ile353Ser) c.*1687T>G (n.*1687T>G) c.1103T>G (p.Ile368Ser) c.965T>G (p.Ile322Ser) c.973+85T>G (n.973+85T>G) | |
| 3 | g.24127585A>G | CA351888664 | THRB | c.1058T>C (p.Ile353Thr) c.*1687T>C (n.*1687T>C) c.1103T>C (p.Ile368Thr) c.965T>C (p.Ile322Thr) c.973+85T>C (n.973+85T>C) | ClinVar |
| 3 | g.24127585A>T | CA351888663 | THRB | c.1058T>A (p.Ile353Asn) c.*1687T>A (n.*1687T>A) c.1103T>A (p.Ile368Asn) c.965T>A (p.Ile322Asn) c.973+85T>A (n.973+85T>A) | |
| 3 | g.24127586T>A | CA351888665 | THRB | c.1057A>T (p.Ile353Phe) c.*1686A>T (n.*1686A>T) c.1102A>T (p.Ile368Phe) c.964A>T (p.Ile322Phe) c.973+84A>T (n.973+84A>T) | |
| 3 | g.24127586T>C | CA351888666 | THRB | c.1057A>G (p.Ile353Val) c.*1686A>G (n.*1686A>G) c.1102A>G (p.Ile368Val) c.964A>G (p.Ile322Val) c.973+84A>G (n.973+84A>G) | dbSNP |
| 3 | g.24127586T>G | CA351888667 | THRB | c.1057A>C (p.Ile353Leu) c.*1686A>C (n.*1686A>C) c.1102A>C (p.Ile368Leu) c.964A>C (p.Ile322Leu) c.973+84A>C (n.973+84A>C) | |
| 3 | g.24127587G>A | CA2287131 | THRB | c.1056C>T (p.Ala352=) c.*1685C>T (n.*1685C>T) c.1101C>T (p.Ala367=) c.963C>T (p.Ala321=) c.973+83C>T (n.973+83C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127587G>C | CA432916303 | THRB | c.1056C>G (p.Ala352=) c.*1685C>G (n.*1685C>G) c.1101C>G (p.Ala367=) c.963C>G (p.Ala321=) c.973+83C>G (n.973+83C>G) | |
| 3 | g.24127587G= | CA1351825299 | THRB | c.1056C= (p.Ala352=) c.*1685C= (n.*1685C=) c.1101C= (p.Ala367=) c.963C= (p.Ala321=) c.973+83C= (n.973+83C=) | |
| 3 | g.24127587G>T | CA432916304 | THRB | c.1056C>A (p.Ala352=) c.*1685C>A (n.*1685C>A) c.1101C>A (p.Ala367=) c.963C>A (p.Ala321=) c.973+83C>A (n.973+83C>A) | COSMIC |
| 3 | g.24127588G>A | CA351888668 | THRB | c.1055C>T (p.Ala352Val) c.*1684C>T (n.*1684C>T) c.1100C>T (p.Ala367Val) c.962C>T (p.Ala321Val) c.973+82C>T (n.973+82C>T) | COSMIC |
| 3 | g.24127588G>C | CA351888669 | THRB | c.1055C>G (p.Ala352Gly) c.*1684C>G (n.*1684C>G) c.1100C>G (p.Ala367Gly) c.962C>G (p.Ala321Gly) c.973+82C>G (n.973+82C>G) | |
| 3 | g.24127588G>T | CA351888670 | THRB | c.1055C>A (p.Ala352Asp) c.*1684C>A (n.*1684C>A) c.1100C>A (p.Ala367Asp) c.962C>A (p.Ala321Asp) c.973+82C>A (n.973+82C>A) | |
| 3 | g.24127589C>A | CA351888671 | THRB | c.1054G>T (p.Ala352Ser) c.*1683G>T (n.*1683G>T) c.1099G>T (p.Ala367Ser) c.961G>T (p.Ala321Ser) c.973+81G>T (n.973+81G>T) | dbSNP gnomAD v2 |
| 3 | g.24127589C= | CA1351825300 | THRB | c.1054G= (p.Ala352=) c.*1683G= (n.*1683G=) c.1099G= (p.Ala367=) c.961G= (p.Ala321=) c.973+81G= (n.973+81G=) | |
| 3 | g.24127589C>G | CA351888672 | THRB | c.1054G>C (p.Ala352Pro) c.*1683G>C (n.*1683G>C) c.1099G>C (p.Ala367Pro) c.961G>C (p.Ala321Pro) c.973+81G>C (n.973+81G>C) | |
| 3 | g.24127589C>T | CA351888673 | THRB | c.1054G>A (p.Ala352Thr) c.*1683G>A (n.*1683G>A) c.1099G>A (p.Ala367Thr) c.961G>A (p.Ala321Thr) c.973+81G>A (n.973+81G>A) | dbSNP gnomAD v4 |
| 3 | g.24127590G>A | CA2287132 | THRB | c.1053C>T (p.Asp351=) c.*1682C>T (n.*1682C>T) c.1098C>T (p.Asp366=) c.960C>T (p.Asp320=) c.973+80C>T (n.973+80C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127590G>C | CA351888675 | THRB | c.1053C>G (p.Asp351Glu) c.*1682C>G (n.*1682C>G) c.1098C>G (p.Asp366Glu) c.960C>G (p.Asp320Glu) c.973+80C>G (n.973+80C>G) | |
| 3 | g.24127590G= | CA1351825304 | THRB | c.1053C= (p.Asp351=) c.*1682C= (n.*1682C=) c.1098C= (p.Asp366=) c.960C= (p.Asp320=) c.973+80C= (n.973+80C=) | |
| 3 | g.24127590G>T | CA351888674 | THRB | c.1053C>A (p.Asp351Glu) c.*1682C>A (n.*1682C>A) c.1098C>A (p.Asp366Glu) c.960C>A (p.Asp320Glu) c.973+80C>A (n.973+80C>A) | |
| 3 | g.24127591T>A | CA351888678 | THRB | c.1052A>T (p.Asp351Val) c.*1681A>T (n.*1681A>T) c.1097A>T (p.Asp366Val) c.959A>T (p.Asp320Val) c.973+79A>T (n.973+79A>T) | |
| 3 | g.24127591T>C | CA351888676 | THRB | c.1052A>G (p.Asp351Gly) c.*1681A>G (n.*1681A>G) c.1097A>G (p.Asp366Gly) c.959A>G (p.Asp320Gly) c.973+79A>G (n.973+79A>G) | ClinVar |
| 3 | g.24127591T>G | CA351888677 | THRB | c.1052A>C (p.Asp351Ala) c.*1681A>C (n.*1681A>C) c.1097A>C (p.Asp366Ala) c.959A>C (p.Asp320Ala) c.973+79A>C (n.973+79A>C) | |
| 3 | g.24127592C>A | CA351888679 | THRB | c.1051G>T (p.Asp351Tyr) c.*1680G>T (n.*1680G>T) c.1096G>T (p.Asp366Tyr) c.958G>T (p.Asp320Tyr) c.973+78G>T (n.973+78G>T) | gnomAD v4 |
| 3 | g.24127592C>G | CA351888680 | THRB | c.1051G>C (p.Asp351His) c.*1680G>C (n.*1680G>C) c.1096G>C (p.Asp366His) c.958G>C (p.Asp320His) c.973+78G>C (n.973+78G>C) | |
| 3 | g.24127592C>T | CA351888681 | THRB | c.1051G>A (p.Asp351Asn) c.*1680G>A (n.*1680G>A) c.1096G>A (p.Asp366Asn) c.958G>A (p.Asp320Asn) c.973+78G>A (n.973+78G>A) | |
| 3 | g.24127593T>A | CA432916310 | THRB | c.1050A>T (p.Ser350=) c.*1679A>T (n.*1679A>T) c.1095A>T (p.Ser365=) c.957A>T (p.Ser319=) c.973+77A>T (n.973+77A>T) | |
| 3 | g.24127593T>C | CA432916309 | THRB | c.1050A>G (p.Ser350=) c.*1679A>G (n.*1679A>G) c.1095A>G (p.Ser365=) c.957A>G (p.Ser319=) c.973+77A>G (n.973+77A>G) | gnomAD v4 |
| 3 | g.24127593T>G | CA432916308 | THRB | c.1050A>C (p.Ser350=) c.*1679A>C (n.*1679A>C) c.1095A>C (p.Ser365=) c.957A>C (p.Ser319=) c.973+77A>C (n.973+77A>C) | |
| 3 | g.24127594G>A | CA351888682 | THRB | c.1049C>T (p.Ser350Leu) c.*1678C>T (n.*1678C>T) c.1094C>T (p.Ser365Leu) c.956C>T (p.Ser319Leu) c.973+76C>T (n.973+76C>T) | |
| 3 | g.24127594G>C | CA351888683 | THRB | c.1049C>G (p.Ser350Ter) c.*1678C>G (n.*1678C>G) c.1094C>G (p.Ser365Ter) c.956C>G (p.Ser319Ter) c.973+76C>G (n.973+76C>G) | |
| 3 | g.24127594G>T | CA351888684 | THRB | c.1049C>A (p.Ser350Ter) c.*1678C>A (n.*1678C>A) c.1094C>A (p.Ser365Ter) c.956C>A (p.Ser319Ter) c.973+76C>A (n.973+76C>A) | |
| 3 | g.24127595A>C | CA351888685 | THRB | c.1048T>G (p.Ser350Ala) c.*1677T>G (n.*1677T>G) c.1093T>G (p.Ser365Ala) c.955T>G (p.Ser319Ala) c.973+75T>G (n.973+75T>G) | |
| 3 | g.24127595A>G | CA351888686 | THRB | c.1048T>C (p.Ser350Pro) c.*1677T>C (n.*1677T>C) c.1093T>C (p.Ser365Pro) c.955T>C (p.Ser319Pro) c.973+75T>C (n.973+75T>C) | |
| 3 | g.24127595A>T | CA351888687 | THRB | c.1048T>A (p.Ser350Thr) c.*1677T>A (n.*1677T>A) c.1093T>A (p.Ser365Thr) c.955T>A (p.Ser319Thr) c.973+75T>A (n.973+75T>A) | |
| 3 | g.24127596C>A | CA432916312 | THRB | c.1047G>T (p.Val349=) c.*1676G>T (n.*1676G>T) c.1092G>T (p.Val364=) c.954G>T (p.Val318=) c.973+74G>T (n.973+74G>T) | |
| 3 | g.24127596C= | CA1351825305 | THRB | c.1047G= (p.Val349=) c.*1676G= (n.*1676G=) c.1092G= (p.Val364=) c.954G= (p.Val318=) c.973+74G= (n.973+74G=) | |
| 3 | g.24127596C>G | CA432916311 | THRB | c.1047G>C (p.Val349=) c.*1676G>C (n.*1676G>C) c.1092G>C (p.Val364=) c.954G>C (p.Val318=) c.973+74G>C (n.973+74G>C) | |
| 3 | g.24127596C>T | CA2287133 | THRB | c.1047G>A (p.Val349=) c.*1676G>A (n.*1676G>A) c.1092G>A (p.Val364=) c.954G>A (p.Val318=) c.973+74G>A (n.973+74G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127597A>C | CA351888692 | THRB | c.1046T>G (p.Val349Gly) c.*1675T>G (n.*1675T>G) c.1091T>G (p.Val364Gly) c.953T>G (p.Val318Gly) c.973+73T>G (n.973+73T>G) | |
| 3 | g.24127597A>G | CA351888691 | THRB | c.1046T>C (p.Val349Ala) c.*1675T>C (n.*1675T>C) c.1091T>C (p.Val364Ala) c.953T>C (p.Val318Ala) c.973+73T>C (n.973+73T>C) | |
| 3 | g.24127597A>T | CA351888690 | THRB | c.1046T>A (p.Val349Glu) c.*1675T>A (n.*1675T>A) c.1091T>A (p.Val364Glu) c.953T>A (p.Val318Glu) c.973+73T>A (n.973+73T>A) | |
| 3 | g.24127598C>A | CA351888693 | THRB | c.1045G>T (p.Val349Leu) c.*1674G>T (n.*1674G>T) c.1090G>T (p.Val364Leu) c.952G>T (p.Val318Leu) c.973+72G>T (n.973+72G>T) | |
| 3 | g.24127598C>G | CA351888694 | THRB | c.1045G>C (p.Val349Leu) c.*1674G>C (n.*1674G>C) c.1090G>C (p.Val364Leu) c.952G>C (p.Val318Leu) c.973+72G>C (n.973+72G>C) | gnomAD v4 |
| 3 | g.24127598C>T | CA351888695 | THRB | c.1045G>A (p.Val349Met) c.*1674G>A (n.*1674G>A) c.1090G>A (p.Val364Met) c.952G>A (p.Val318Met) c.973+72G>A (n.973+72G>A) | ClinVar |
| 3 | g.24127599C>A | CA432916313 | THRB | c.1044G>T (p.Val348=) c.*1673G>T (n.*1673G>T) c.1089G>T (p.Val363=) c.951G>T (p.Val317=) c.973+71G>T (n.973+71G>T) | |
| 3 | g.24127599C>G | CA432916315 | THRB | c.1044G>C (p.Val348=) c.*1673G>C (n.*1673G>C) c.1089G>C (p.Val363=) c.951G>C (p.Val317=) c.973+71G>C (n.973+71G>C) | |
| 3 | g.24127599C>T | CA432916314 | THRB | c.1044G>A (p.Val348=) c.*1673G>A (n.*1673G>A) c.1089G>A (p.Val363=) c.951G>A (p.Val317=) c.973+71G>A (n.973+71G>A) | |
| 3 | g.24127600A>C | CA351888696 | THRB | c.1043T>G (p.Val348Gly) c.*1672T>G (n.*1672T>G) c.1088T>G (p.Val363Gly) c.950T>G (p.Val317Gly) c.973+70T>G (n.973+70T>G) | |
| 3 | g.24127600A>G | CA351888697 | THRB | c.1043T>C (p.Val348Ala) c.*1672T>C (n.*1672T>C) c.1088T>C (p.Val363Ala) c.950T>C (p.Val317Ala) c.973+70T>C (n.973+70T>C) | |
| 3 | g.24127600A>T | CA351888698 | THRB | c.1043T>A (p.Val348Glu) c.*1672T>A (n.*1672T>A) c.1088T>A (p.Val363Glu) c.950T>A (p.Val317Glu) c.973+70T>A (n.973+70T>A) | |
| 3 | g.24127601C>A | CA351888699 | THRB | c.1042G>T (p.Val348Leu) c.*1671G>T (n.*1671G>T) c.1087G>T (p.Val363Leu) c.949G>T (p.Val317Leu) c.973+69G>T (n.973+69G>T) | |
| 3 | g.24127601C>G | CA351888700 | THRB | c.1042G>C (p.Val348Leu) c.*1671G>C (n.*1671G>C) c.1087G>C (p.Val363Leu) c.949G>C (p.Val317Leu) c.973+69G>C (n.973+69G>C) | |
| 3 | g.24127601C>T | CA351888701 | THRB | c.1042G>A (p.Val348Met) c.*1671G>A (n.*1671G>A) c.1087G>A (p.Val363Met) c.949G>A (p.Val317Met) c.973+69G>A (n.973+69G>A) | |
| 3 | g.24127603_24127604del | CA2755547029 | THRB | c.1041_1042del (p.Val348GlyfsTer7) c.*1670_*1671del (n.*1670_*1671del) c.1086_1087del (p.Val363GlyfsTer7) c.948_949del (p.Val317GlyfsTer7) c.973+68_973+69del (n.973+68_973+69del) | |
| 3 | g.24127602C>A | CA432916317 | THRB | c.1041G>T (p.Gly347=) c.*1670G>T (n.*1670G>T) c.1086G>T (p.Gly362=) c.948G>T (p.Gly316=) c.973+68G>T (n.973+68G>T) | |
| 3 | g.24127602C>G | CA432916318 | THRB | c.1041G>C (p.Gly347=) c.*1670G>C (n.*1670G>C) c.1086G>C (p.Gly362=) c.948G>C (p.Gly316=) c.973+68G>C (n.973+68G>C) | gnomAD v4 |
| 3 | g.24127602C>T | CA432916320 | THRB | c.1041G>A (p.Gly347=) c.*1670G>A (n.*1670G>A) c.1086G>A (p.Gly362=) c.948G>A (p.Gly316=) c.973+68G>A (n.973+68G>A) | |
| 3 | g.24127603C>A | CA351888702 | THRB | c.1040G>T (p.Gly347Val) c.*1669G>T (n.*1669G>T) c.1085G>T (p.Gly362Val) c.947G>T (p.Gly316Val) c.973+67G>T (n.973+67G>T) | |
| 3 | g.24127603C= | CA1351825307 | THRB | c.1040G= (p.Gly347=) c.*1669G= (n.*1669G=) c.1085G= (p.Gly362=) c.947G= (p.Gly316=) c.973+67G= (n.973+67G=) | |
| 3 | g.24127603C>G | CA351888703 | THRB | c.1040G>C (p.Gly347Ala) c.*1669G>C (n.*1669G>C) c.1085G>C (p.Gly362Ala) c.947G>C (p.Gly316Ala) c.973+67G>C (n.973+67G>C) | |
| 3 | g.24127603C>T | CA122475 | THRB | c.1040G>A (p.Gly347Glu) c.*1669G>A (n.*1669G>A) c.1085G>A (p.Gly362Glu) c.947G>A (p.Gly316Glu) c.973+67G>A (n.973+67G>A) | ClinVar dbSNP |
| 3 | g.24127604C>A | CA351888706 | THRB | c.1039G>T (p.Gly347Trp) c.*1668G>T (n.*1668G>T) c.1084G>T (p.Gly362Trp) c.946G>T (p.Gly316Trp) c.973+66G>T (n.973+66G>T) | ClinVar |
| 3 | g.24127604C>G | CA351888705 | THRB | c.1039G>C (p.Gly347Arg) c.*1668G>C (n.*1668G>C) c.1084G>C (p.Gly362Arg) c.946G>C (p.Gly316Arg) c.973+66G>C (n.973+66G>C) | |
| 3 | g.24127604C>T | CA351888704 | THRB | c.1039G>A (p.Gly347Arg) c.*1668G>A (n.*1668G>A) c.1084G>A (p.Gly362Arg) c.946G>A (p.Gly316Arg) c.973+66G>A (n.973+66G>A) | |
| 3 | g.24127605A= | CA1351825309 | THRB | c.1038T= (p.Leu346=) c.*1667T= (n.*1667T=) c.1083T= (p.Leu361=) c.945T= (p.Leu315=) c.973+65T= (n.973+65T=) | |
| 3 | g.24127605A>C | CA2287134 | THRB | c.1038T>G (p.Leu346=) c.*1667T>G (n.*1667T>G) c.1083T>G (p.Leu361=) c.945T>G (p.Leu315=) c.973+65T>G (n.973+65T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127605A>G | CA432916323 | THRB | c.1038T>C (p.Leu346=) c.*1667T>C (n.*1667T>C) c.1083T>C (p.Leu361=) c.945T>C (p.Leu315=) c.973+65T>C (n.973+65T>C) | |
| 3 | g.24127605A>T | CA432916325 | THRB | c.1038T>A (p.Leu346=) c.*1667T>A (n.*1667T>A) c.1083T>A (p.Leu361=) c.945T>A (p.Leu315=) c.973+65T>A (n.973+65T>A) | |
| 3 | g.24127606A>C | CA351888707 | THRB | c.1037T>G (p.Leu346Arg) c.*1666T>G (n.*1666T>G) c.1082T>G (p.Leu361Arg) c.944T>G (p.Leu315Arg) c.973+64T>G (n.973+64T>G) | |
| 3 | g.24127606A>G | CA351888708 | THRB | c.1037T>C (p.Leu346Pro) c.*1666T>C (n.*1666T>C) c.1082T>C (p.Leu361Pro) c.944T>C (p.Leu315Pro) c.973+64T>C (n.973+64T>C) | |
| 3 | g.24127606A>T | CA351888709 | THRB | c.1037T>A (p.Leu346His) c.*1666T>A (n.*1666T>A) c.1082T>A (p.Leu361His) c.944T>A (p.Leu315His) c.973+64T>A (n.973+64T>A) | |
| 3 | g.24127607G>A | CA351888710 | THRB | c.1036C>T (p.Leu346Phe) c.*1665C>T (n.*1665C>T) c.1081C>T (p.Leu361Phe) c.943C>T (p.Leu315Phe) c.973+63C>T (n.973+63C>T) | |
| 3 | g.24127607G>C | CA351888711 | THRB | c.1036C>G (p.Leu346Val) c.*1665C>G (n.*1665C>G) c.1081C>G (p.Leu361Val) c.943C>G (p.Leu315Val) c.973+63C>G (n.973+63C>G) | |
| 3 | g.24127607G>T | CA351888712 | THRB | c.1036C>A (p.Leu346Ile) c.*1665C>A (n.*1665C>A) c.1081C>A (p.Leu361Ile) c.943C>A (p.Leu315Ile) c.973+63C>A (n.973+63C>A) | |
| 3 | g.24127608A>C | CA432916326 | THRB | c.1035T>G (p.Gly345=) c.*1664T>G (n.*1664T>G) c.1080T>G (p.Gly360=) c.942T>G (p.Gly314=) c.973+62T>G (n.973+62T>G) | |
| 3 | g.24127608A>G | CA432916327 | THRB | c.1035T>C (p.Gly345=) c.*1664T>C (n.*1664T>C) c.1080T>C (p.Gly360=) c.942T>C (p.Gly314=) c.973+62T>C (n.973+62T>C) | |
| 3 | g.24127608A>T | CA432916330 | THRB | c.1035T>A (p.Gly345=) c.*1664T>A (n.*1664T>A) c.1080T>A (p.Gly360=) c.942T>A (p.Gly314=) c.973+62T>A (n.973+62T>A) | |
| 3 | g.24127609C>A | CA122473 | THRB | c.1034G>T (p.Gly345Val) c.*1663G>T (n.*1663G>T) c.1079G>T (p.Gly360Val) c.941G>T (p.Gly314Val) c.973+61G>T (n.973+61G>T) | ClinVar dbSNP |
| 3 | g.24127609C= | CA1351825314 | THRB | c.1034G= (p.Gly345=) c.*1663G= (n.*1663G=) c.1079G= (p.Gly360=) c.941G= (p.Gly314=) c.973+61G= (n.973+61G=) | |
| 3 | g.24127609C>G | CA351888713 | THRB | c.1034G>C (p.Gly345Ala) c.*1663G>C (n.*1663G>C) c.1079G>C (p.Gly360Ala) c.941G>C (p.Gly314Ala) c.973+61G>C (n.973+61G>C) | |
| 3 | g.24127609C>T | CA122471 | THRB | c.1034G>A (p.Gly345Asp) c.*1663G>A (n.*1663G>A) c.1079G>A (p.Gly360Asp) c.941G>A (p.Gly314Asp) c.973+61G>A (n.973+61G>A) | ClinVar dbSNP |
| 3 | g.24127610C>A | CA351888714 | THRB | c.1033G>T (p.Gly345Cys) c.*1662G>T (n.*1662G>T) c.1078G>T (p.Gly360Cys) c.940G>T (p.Gly314Cys) c.973+60G>T (n.973+60G>T) | ClinVar dbSNP |
| 3 | g.24127610C= | CA1351825315 | THRB | c.1033G= (p.Gly345=) c.*1662G= (n.*1662G=) c.1078G= (p.Gly360=) c.940G= (p.Gly314=) c.973+60G= (n.973+60G=) | |
| 3 | g.24127610C>G | CA122452 | THRB | c.1033G>C (p.Gly345Arg) c.*1662G>C (n.*1662G>C) c.1078G>C (p.Gly360Arg) c.940G>C (p.Gly314Arg) c.973+60G>C (n.973+60G>C) | ClinVar dbSNP |
| 3 | g.24127610C>T | CA122485 | THRB | c.1033G>A (p.Gly345Ser) c.*1662G>A (n.*1662G>A) c.1078G>A (p.Gly360Ser) c.940G>A (p.Gly314Ser) c.973+60G>A (n.973+60G>A) | ClinVar dbSNP |
| 3 | g.24127611C>A | CA432916334 | THRB | c.1032G>T (p.Gly344=) c.*1661G>T (n.*1661G>T) c.1077G>T (p.Gly359=) c.939G>T (p.Gly313=) c.973+59G>T (n.973+59G>T) | |
| 3 | g.24127611C>G | CA432916336 | THRB | c.1032G>C (p.Gly344=) c.*1661G>C (n.*1661G>C) c.1077G>C (p.Gly359=) c.939G>C (p.Gly313=) c.973+59G>C (n.973+59G>C) | |
| 3 | g.24127611C>T | CA432916337 | THRB | c.1032G>A (p.Gly344=) c.*1661G>A (n.*1661G>A) c.1077G>A (p.Gly359=) c.939G>A (p.Gly313=) c.973+59G>A (n.973+59G>A) | |
| 3 | g.24127612C>A | CA351888717 | THRB | c.1031G>T (p.Gly344Val) c.*1660G>T (n.*1660G>T) c.1076G>T (p.Gly359Val) c.938G>T (p.Gly313Val) c.973+58G>T (n.973+58G>T) | |
| 3 | g.24127612C= | CA1351825316 | THRB | c.1031G= (p.Gly344=) c.*1660G= (n.*1660G=) c.1076G= (p.Gly359=) c.938G= (p.Gly313=) c.973+58G= (n.973+58G=) | |
| 3 | g.24127612C>G | CA351888715 | THRB | c.1031G>C (p.Gly344Ala) c.*1660G>C (n.*1660G>C) c.1076G>C (p.Gly359Ala) c.938G>C (p.Gly313Ala) c.973+58G>C (n.973+58G>C) | |
| 3 | g.24127612C>T | CA351888716 | THRB | c.1031G>A (p.Gly344Glu) c.*1660G>A (n.*1660G>A) c.1076G>A (p.Gly359Glu) c.938G>A (p.Gly313Glu) c.973+58G>A (n.973+58G>A) | ClinVar dbSNP |
| 3 | g.24127613C>A | CA351888718 | THRB | c.1030G>T (p.Gly344Trp) c.*1659G>T (n.*1659G>T) c.1075G>T (p.Gly359Trp) c.937G>T (p.Gly313Trp) c.973+57G>T (n.973+57G>T) | |
| 3 | g.24127613C>G | CA351888719 | THRB | c.1030G>C (p.Gly344Arg) c.*1659G>C (n.*1659G>C) c.1075G>C (p.Gly359Arg) c.937G>C (p.Gly313Arg) c.973+57G>C (n.973+57G>C) | |
| 3 | g.24127613C>T | CA351888720 | THRB | c.1030G>A (p.Gly344Arg) c.*1659G>A (n.*1659G>A) c.1075G>A (p.Gly359Arg) c.937G>A (p.Gly313Arg) c.973+57G>A (n.973+57G>A) | ClinVar |
| 3 | g.24127614A= | CA1351825318 | THRB | c.1029T= (p.Asn343=) c.*1658T= (n.*1658T=) c.1074T= (p.Asn358=) c.936T= (p.Asn312=) c.973+56T= (n.973+56T=) | |
| 3 | g.24127614A>C | CA351888721 | THRB | c.1029T>G (p.Asn343Lys) c.*1658T>G (n.*1658T>G) c.1074T>G (p.Asn358Lys) c.936T>G (p.Asn312Lys) c.973+56T>G (n.973+56T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127614A>G | CA432916340 | THRB | c.1029T>C (p.Asn343=) c.*1658T>C (n.*1658T>C) c.1074T>C (p.Asn358=) c.936T>C (p.Asn312=) c.973+56T>C (n.973+56T>C) | gnomAD v4 |
| 3 | g.24127614A>T | CA351888722 | THRB | c.1029T>A (p.Asn343Lys) c.*1658T>A (n.*1658T>A) c.1074T>A (p.Asn358Lys) c.936T>A (p.Asn312Lys) c.973+56T>A (n.973+56T>A) | |
| 3 | g.24127615T>A | CA351888723 | THRB | c.1028A>T (p.Asn343Ile) c.*1657A>T (n.*1657A>T) c.1073A>T (p.Asn358Ile) c.935A>T (p.Asn312Ile) c.973+55A>T (n.973+55A>T) | |
| 3 | g.24127615T>C | CA351888724 | THRB | c.1028A>G (p.Asn343Ser) c.*1657A>G (n.*1657A>G) c.1073A>G (p.Asn358Ser) c.935A>G (p.Asn312Ser) c.973+55A>G (n.973+55A>G) | |
| 3 | g.24127615T>G | CA351888725 | THRB | c.1028A>C (p.Asn343Thr) c.*1657A>C (n.*1657A>C) c.1073A>C (p.Asn358Thr) c.935A>C (p.Asn312Thr) c.973+55A>C (n.973+55A>C) | ClinVar dbSNP |
| 3 | g.24127615T= | CA1351825320 | THRB | c.1028A= (p.Asn343=) c.*1657A= (n.*1657A=) c.1073A= (p.Asn358=) c.935A= (p.Asn312=) c.973+55A= (n.973+55A=) |