| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |