| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 3 | g.24127616T>A | CA351888726 | THRB | c.1027A>T (p.Asn343Tyr) c.*1656A>T (n.*1656A>T) c.1072A>T (p.Asn358Tyr) c.934A>T (p.Asn312Tyr) c.973+54A>T (n.973+54A>T) | |
| 3 | g.24127616T>C | CA351888727 | THRB | c.1027A>G (p.Asn343Asp) c.*1656A>G (n.*1656A>G) c.1072A>G (p.Asn358Asp) c.934A>G (p.Asn312Asp) c.973+54A>G (n.973+54A>G) | |
| 3 | g.24127616T>G | CA351888728 | THRB | c.1027A>C (p.Asn343His) c.*1656A>C (n.*1656A>C) c.1072A>C (p.Asn358His) c.934A>C (p.Asn312His) c.973+54A>C (n.973+54A>C) | |
| 3 | g.24127617T>A | CA351888729 | THRB | c.1026A>T (p.Lys342Asn) c.*1655A>T (n.*1655A>T) c.1071A>T (p.Lys357Asn) c.933A>T (p.Lys311Asn) c.973+53A>T (n.973+53A>T) | |
| 3 | g.24127617T>C | CA432916341 | THRB | c.1026A>G (p.Lys342=) c.*1655A>G (n.*1655A>G) c.1071A>G (p.Lys357=) c.933A>G (p.Lys311=) c.973+53A>G (n.973+53A>G) | |
| 3 | g.24127617T>G | CA351888730 | THRB | c.1026A>C (p.Lys342Asn) c.*1655A>C (n.*1655A>C) c.1071A>C (p.Lys357Asn) c.933A>C (p.Lys311Asn) c.973+53A>C (n.973+53A>C) | |
| 3 | g.24127618T>A | CA351888732 | THRB | c.1025A>T (p.Lys342Ile) c.*1654A>T (n.*1654A>T) c.1070A>T (p.Lys357Ile) c.932A>T (p.Lys311Ile) c.973+52A>T (n.973+52A>T) | |
| 3 | g.24127618T>C | CA351888733 | THRB | c.1025A>G (p.Lys342Arg) c.*1654A>G (n.*1654A>G) c.1070A>G (p.Lys357Arg) c.932A>G (p.Lys311Arg) c.973+52A>G (n.973+52A>G) | gnomAD v4 |
| 3 | g.24127618T>G | CA351888731 | THRB | c.1025A>C (p.Lys342Thr) c.*1654A>C (n.*1654A>C) c.1070A>C (p.Lys357Thr) c.932A>C (p.Lys311Thr) c.973+52A>C (n.973+52A>C) | |
| 3 | g.24127619T>A | CA351888736 | THRB | c.1024A>T (p.Lys342Ter) c.*1653A>T (n.*1653A>T) c.1069A>T (p.Lys357Ter) c.931A>T (p.Lys311Ter) c.973+51A>T (n.973+51A>T) | |
| 3 | g.24127619T>C | CA351888734 | THRB | c.1024A>G (p.Lys342Glu) c.*1653A>G (n.*1653A>G) c.1069A>G (p.Lys357Glu) c.931A>G (p.Lys311Glu) c.973+51A>G (n.973+51A>G) | |
| 3 | g.24127619T>G | CA351888735 | THRB | c.1024A>C (p.Lys342Gln) c.*1653A>C (n.*1653A>C) c.1069A>C (p.Lys357Gln) c.931A>C (p.Lys311Gln) c.973+51A>C (n.973+51A>C) | |
| 3 | g.24127620C>A | CA432916179 | THRB | c.1023G>T (p.Leu341=) c.*1652G>T (n.*1652G>T) c.1068G>T (p.Leu356=) c.930G>T (p.Leu310=) c.973+50G>T (n.973+50G>T) | |
| 3 | g.24127620C>G | CA432916176 | THRB | c.1023G>C (p.Leu341=) c.*1652G>C (n.*1652G>C) c.1068G>C (p.Leu356=) c.930G>C (p.Leu310=) c.973+50G>C (n.973+50G>C) | |
| 3 | g.24127620C>T | CA432916178 | THRB | c.1023G>A (p.Leu341=) c.*1652G>A (n.*1652G>A) c.1068G>A (p.Leu356=) c.930G>A (p.Leu310=) c.973+50G>A (n.973+50G>A) | COSMIC |
| 3 | g.24127621A= | CA1351825322 | THRB | c.1022T= (p.Leu341=) c.*1651T= (n.*1651T=) c.1067T= (p.Leu356=) c.929T= (p.Leu310=) c.973+49T= (n.973+49T=) | |
| 3 | g.24127621A>C | CA351888737 | THRB | c.1022T>G (p.Leu341Arg) c.*1651T>G (n.*1651T>G) c.1067T>G (p.Leu356Arg) c.929T>G (p.Leu310Arg) c.973+49T>G (n.973+49T>G) | |
| 3 | g.24127621A>G | CA351888738 | THRB | c.1022T>C (p.Leu341Pro) c.*1651T>C (n.*1651T>C) c.1067T>C (p.Leu356Pro) c.929T>C (p.Leu310Pro) c.973+49T>C (n.973+49T>C) | ClinVar dbSNP |
| 3 | g.24127621A>T | CA351888739 | THRB | c.1022T>A (p.Leu341Gln) c.*1651T>A (n.*1651T>A) c.1067T>A (p.Leu356Gln) c.929T>A (p.Leu310Gln) c.973+49T>A (n.973+49T>A) | |
| 3 | g.24127622G>A | CA432916180 | THRB | c.1021C>T (p.Leu341=) c.*1650C>T (n.*1650C>T) c.1066C>T (p.Leu356=) c.928C>T (p.Leu310=) c.973+48C>T (n.973+48C>T) | |
| 3 | g.24127622G>C | CA351888740 | THRB | c.1021C>G (p.Leu341Val) c.*1650C>G (n.*1650C>G) c.1066C>G (p.Leu356Val) c.928C>G (p.Leu310Val) c.973+48C>G (n.973+48C>G) | ClinVar dbSNP |
| 3 | g.24127622G= | CA1351825323 | THRB | c.1021C= (p.Leu341=) c.*1650C= (n.*1650C=) c.1066C= (p.Leu356=) c.928C= (p.Leu310=) c.973+48C= (n.973+48C=) | |
| 3 | g.24127622G>T | CA351888741 | THRB | c.1021C>A (p.Leu341Met) c.*1650C>A (n.*1650C>A) c.1066C>A (p.Leu356Met) c.928C>A (p.Leu310Met) c.973+48C>A (n.973+48C>A) | |
| 3 | g.24127623C>A | CA351888742 | THRB | c.1020G>T (p.Gln340His) c.*1649G>T (n.*1649G>T) c.1065G>T (p.Gln355His) c.927G>T (p.Gln309His) c.973+47G>T (n.973+47G>T) | |
| 3 | g.24127623C= | CA1351825325 | THRB | c.1020G= (p.Gln340=) c.*1649G= (n.*1649G=) c.1065G= (p.Gln355=) c.927G= (p.Gln309=) c.973+47G= (n.973+47G=) | |
| 3 | g.24127623C>G | CA122454 | THRB | c.1020G>C (p.Gln340His) c.*1649G>C (n.*1649G>C) c.1065G>C (p.Gln355His) c.927G>C (p.Gln309His) c.973+47G>C (n.973+47G>C) | ClinVar dbSNP |
| 3 | g.24127623C>T | CA2287135 | THRB | c.1020G>A (p.Gln340=) c.*1649G>A (n.*1649G>A) c.1065G>A (p.Gln355=) c.927G>A (p.Gln309=) c.973+47G>A (n.973+47G>A) | dbSNP ExAC gnomAD v2 |
| 3 | g.24127624T>A | CA351888743 | THRB | c.1019A>T (p.Gln340Leu) c.*1648A>T (n.*1648A>T) c.1064A>T (p.Gln355Leu) c.926A>T (p.Gln309Leu) c.973+46A>T (n.973+46A>T) | |
| 3 | g.24127624T>C | CA351888744 | THRB | c.1019A>G (p.Gln340Arg) c.*1648A>G (n.*1648A>G) c.1064A>G (p.Gln355Arg) c.926A>G (p.Gln309Arg) c.973+46A>G (n.973+46A>G) | |
| 3 | g.24127624T>G | CA351888745 | THRB | c.1019A>C (p.Gln340Pro) c.*1648A>C (n.*1648A>C) c.1064A>C (p.Gln355Pro) c.926A>C (p.Gln309Pro) c.973+46A>C (n.973+46A>C) | |
| 3 | g.24127625G>A | CA351888748 | THRB | c.1018C>T (p.Gln340Ter) c.*1647C>T (n.*1647C>T) c.1063C>T (p.Gln355Ter) c.925C>T (p.Gln309Ter) c.973+45C>T (n.973+45C>T) | |
| 3 | g.24127625G>C | CA351888747 | THRB | c.1018C>G (p.Gln340Glu) c.*1647C>G (n.*1647C>G) c.1063C>G (p.Gln355Glu) c.925C>G (p.Gln309Glu) c.973+45C>G (n.973+45C>G) | |
| 3 | g.24127625G>T | CA351888746 | THRB | c.1018C>A (p.Gln340Lys) c.*1647C>A (n.*1647C>A) c.1063C>A (p.Gln355Lys) c.925C>A (p.Gln309Lys) c.973+45C>A (n.973+45C>A) | |
| 3 | g.24127626G>A | CA432916184 | THRB | c.1017C>T (p.Gly339=) c.*1646C>T (n.*1646C>T) c.1062C>T (p.Gly354=) c.924C>T (p.Gly308=) c.973+44C>T (n.973+44C>T) | |
| 3 | g.24127626G>C | CA432916186 | THRB | c.1017C>G (p.Gly339=) c.*1646C>G (n.*1646C>G) c.1062C>G (p.Gly354=) c.924C>G (p.Gly308=) c.973+44C>G (n.973+44C>G) | |
| 3 | g.24127626G>T | CA432916185 | THRB | c.1017C>A (p.Gly339=) c.*1646C>A (n.*1646C>A) c.1062C>A (p.Gly354=) c.924C>A (p.Gly308=) c.973+44C>A (n.973+44C>A) | |
| 3 | g.24127627C>A | CA351888749 | THRB | c.1016G>T (p.Gly339Val) c.*1645G>T (n.*1645G>T) c.1061G>T (p.Gly354Val) c.923G>T (p.Gly308Val) c.973+43G>T (n.973+43G>T) | |
| 3 | g.24127627C= | CA1351825326 | THRB | c.1016G= (p.Gly339=) c.*1645G= (n.*1645G=) c.1061G= (p.Gly354=) c.923G= (p.Gly308=) c.973+43G= (n.973+43G=) | |
| 3 | g.24127627C>G | CA351888750 | THRB | c.1016G>C (p.Gly339Ala) c.*1645G>C (n.*1645G>C) c.1061G>C (p.Gly354Ala) c.923G>C (p.Gly308Ala) c.973+43G>C (n.973+43G>C) | |
| 3 | g.24127627C>T | CA351888751 | THRB | c.1016G>A (p.Gly339Asp) c.*1645G>A (n.*1645G>A) c.1061G>A (p.Gly354Asp) c.923G>A (p.Gly308Asp) c.973+43G>A (n.973+43G>A) | dbSNP gnomAD v4 |
| 3 | g.24127628C>A | CA351888752 | THRB | c.1015G>T (p.Gly339Cys) c.*1644G>T (n.*1644G>T) c.1060G>T (p.Gly354Cys) c.922G>T (p.Gly308Cys) c.973+42G>T (n.973+42G>T) | |
| 3 | g.24127628C= | CA1351825327 | THRB | c.1015G= (p.Gly339=) c.*1644G= (n.*1644G=) c.1060G= (p.Gly354=) c.922G= (p.Gly308=) c.973+42G= (n.973+42G=) | |
| 3 | g.24127628C>G | CA351888753 | THRB | c.1015G>C (p.Gly339Arg) c.*1644G>C (n.*1644G>C) c.1060G>C (p.Gly354Arg) c.922G>C (p.Gly308Arg) c.973+42G>C (n.973+42G>C) | |
| 3 | g.24127628C>T | CA351888754 | THRB | c.1015G>A (p.Gly339Ser) c.*1644G>A (n.*1644G>A) c.1060G>A (p.Gly354Ser) c.922G>A (p.Gly308Ser) c.973+42G>A (n.973+42G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.24127629C>A | CA432916190 | THRB | c.1014G>T (p.Arg338=) c.*1643G>T (n.*1643G>T) c.1059G>T (p.Arg353=) c.921G>T (p.Arg307=) c.973+41G>T (n.973+41G>T) | |
| 3 | g.24127629C>G | CA432916191 | THRB | c.1014G>C (p.Arg338=) c.*1643G>C (n.*1643G>C) c.1059G>C (p.Arg353=) c.921G>C (p.Arg307=) c.973+41G>C (n.973+41G>C) | |
| 3 | g.24127629C>T | CA432916192 | THRB | c.1014G>A (p.Arg338=) c.*1643G>A (n.*1643G>A) c.1059G>A (p.Arg353=) c.921G>A (p.Arg307=) c.973+41G>A (n.973+41G>A) | |
| 3 | g.24127630C>A | CA351888755 | THRB | c.1013G>T (p.Arg338Leu) c.*1642G>T (n.*1642G>T) c.1058G>T (p.Arg353Leu) c.920G>T (p.Arg307Leu) c.973+40G>T (n.973+40G>T) | |
| 3 | g.24127630C= | CA1351825329 | THRB | c.1013G= (p.Arg338=) c.*1642G= (n.*1642G=) c.1058G= (p.Arg353=) c.920G= (p.Arg307=) c.973+40G= (n.973+40G=) | |
| 3 | g.24127630C>G | CA351888756 | THRB | c.1013G>C (p.Arg338Pro) c.*1642G>C (n.*1642G>C) c.1058G>C (p.Arg353Pro) c.920G>C (p.Arg307Pro) c.973+40G>C (n.973+40G>C) | |
| 3 | g.24127630C>T | CA351888757 | THRB | c.1013G>A (p.Arg338Gln) c.*1642G>A (n.*1642G>A) c.1058G>A (p.Arg353Gln) c.920G>A (p.Arg307Gln) c.973+40G>A (n.973+40G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.24127630_24127633delinsCGTG | CA1351825328 | THRB | c.1010_1013delinsCACG (p.Thr337=) c.*1639_*1642delinsCACG (n.*1639_*1642delinsCACG) c.1055_1058delinsCACG (p.Thr352=) c.917_920delinsCACG (p.Thr306=) c.973+37_973+40delinsCACG (n.973+37_973+40delinsCACG) | |
| 3 | g.24127631G>A | CA122495 | THRB | c.1012C>T (p.Arg338Trp) c.*1641C>T (n.*1641C>T) c.1057C>T (p.Arg353Trp) c.919C>T (p.Arg307Trp) c.973+39C>T (n.973+39C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.24127631G>C | CA351888758 | THRB | c.1012C>G (p.Arg338Gly) c.*1641C>G (n.*1641C>G) c.1057C>G (p.Arg353Gly) c.919C>G (p.Arg307Gly) c.973+39C>G (n.973+39C>G) | |
| 3 | g.24127631G= | CA1351825331 | THRB | c.1012C= (p.Arg338=) c.*1641C= (n.*1641C=) c.1057C= (p.Arg353=) c.919C= (p.Arg307=) c.973+39C= (n.973+39C=) | |
| 3 | g.24127631G>T | CA432916197 | THRB | c.1012C>A (p.Arg338=) c.*1641C>A (n.*1641C>A) c.1057C>A (p.Arg353=) c.919C>A (p.Arg307=) c.973+39C>A (n.973+39C>A) | |
| 3 | g.24127631_24127633del | CA122458 | THRB | c.1010_1012del (p.Thr337del) c.*1639_*1641del (n.*1639_*1641del) c.1055_1057del (p.Thr352del) c.917_919del (p.Thr306del) c.973+37_973+39del (n.973+37_973+39del) | ClinVar dbSNP |
| 3 | g.24127631_24127634delinsGTGT | CA1351825330 | THRB | c.1009_1012delinsACAC (p.Thr337=) c.*1638_*1641delinsACAC (n.*1638_*1641delinsACAC) c.1054_1057delinsACAC (p.Thr352=) c.916_919delinsACAC (p.Thr306=) c.973+36_973+39delinsACAC (n.973+36_973+39delinsACAC) | |
| 3 | g.24127632T>A | CA432916201 | THRB | c.1011A>T (p.Thr337=) c.*1640A>T (n.*1640A>T) c.1056A>T (p.Thr352=) c.918A>T (p.Thr306=) c.973+38A>T (n.973+38A>T) | |
| 3 | g.24127632T>C | CA432916198 | THRB | c.1011A>G (p.Thr337=) c.*1640A>G (n.*1640A>G) c.1056A>G (p.Thr352=) c.918A>G (p.Thr306=) c.973+38A>G (n.973+38A>G) | |
| 3 | g.24127632T>G | CA432916200 | THRB | c.1011A>C (p.Thr337=) c.*1640A>C (n.*1640A>C) c.1056A>C (p.Thr352=) c.918A>C (p.Thr306=) c.973+38A>C (n.973+38A>C) | |
| 3 | g.24127632_24127634del | CA71608607 | THRB | c.1009_1011del (p.Thr337del) c.*1638_*1640del (n.*1638_*1640del) c.1054_1056del (p.Thr352del) c.916_918del (p.Thr306del) c.973+36_973+38del (n.973+36_973+38del) | dbSNP |
| 3 | g.24127633G>A | CA71608611 | THRB | c.1010C>T (p.Thr337Ile) c.*1639C>T (n.*1639C>T) c.1055C>T (p.Thr352Ile) c.917C>T (p.Thr306Ile) c.973+37C>T (n.973+37C>T) | dbSNP |
| 3 | g.24127633G>C | CA351888760 | THRB | c.1010C>G (p.Thr337Arg) c.*1639C>G (n.*1639C>G) c.1055C>G (p.Thr352Arg) c.917C>G (p.Thr306Arg) c.973+37C>G (n.973+37C>G) | |
| 3 | g.24127633G= | CA1351825332 | THRB | c.1010C= (p.Thr337=) c.*1639C= (n.*1639C=) c.1055C= (p.Thr352=) c.917C= (p.Thr306=) c.973+37C= (n.973+37C=) | |
| 3 | g.24127633G>T | CA351888759 | THRB | c.1010C>A (p.Thr337Lys) c.*1639C>A (n.*1639C>A) c.1055C>A (p.Thr352Lys) c.917C>A (p.Thr306Lys) c.973+37C>A (n.973+37C>A) | |
| 3 | g.24127634T>A | CA351888761 | THRB | c.1009A>T (p.Thr337Ser) c.*1638A>T (n.*1638A>T) c.1054A>T (p.Thr352Ser) c.916A>T (p.Thr306Ser) c.973+36A>T (n.973+36A>T) | |
| 3 | g.24127634T>C | CA122515 | THRB | c.1009A>G (p.Thr337Ala) c.*1638A>G (n.*1638A>G) c.1054A>G (p.Thr352Ala) c.916A>G (p.Thr306Ala) c.973+36A>G (n.973+36A>G) | ClinVar dbSNP |
| 3 | g.24127634T>G | CA351888762 | THRB | c.1009A>C (p.Thr337Pro) c.*1638A>C (n.*1638A>C) c.1054A>C (p.Thr352Pro) c.916A>C (p.Thr306Pro) c.973+36A>C (n.973+36A>C) | |
| 3 | g.24127634T= | CA1351825333 | THRB | c.1009A= (p.Thr337=) c.*1638A= (n.*1638A=) c.1054A= (p.Thr352=) c.916A= (p.Thr306=) c.973+36A= (n.973+36A=) | |
| 3 | g.24127635C>A | CA2287136 | THRB | c.1008G>T (p.Val336=) c.*1637G>T (n.*1637G>T) c.1053G>T (p.Val351=) c.915G>T (p.Val305=) c.973+35G>T (n.973+35G>T) | dbSNP ExAC gnomAD v2 |
| 3 | g.24127635C= | CA1351825334 | THRB | c.1008G= (p.Val336=) c.*1637G= (n.*1637G=) c.1053G= (p.Val351=) c.915G= (p.Val305=) c.973+35G= (n.973+35G=) | |
| 3 | g.24127635C>G | CA432916205 | THRB | c.1008G>C (p.Val336=) c.*1637G>C (n.*1637G>C) c.1053G>C (p.Val351=) c.915G>C (p.Val305=) c.973+35G>C (n.973+35G>C) | |
| 3 | g.24127635C>T | CA432916206 | THRB | c.1008G>A (p.Val336=) c.*1637G>A (n.*1637G>A) c.1053G>A (p.Val351=) c.915G>A (p.Val305=) c.973+35G>A (n.973+35G>A) | |
| 3 | g.24127636A>C | CA351888763 | THRB | c.1007T>G (p.Val336Gly) c.*1636T>G (n.*1636T>G) c.1052T>G (p.Val351Gly) c.914T>G (p.Val305Gly) c.973+34T>G (n.973+34T>G) | |
| 3 | g.24127636A>G | CA351888764 | THRB | c.1007T>C (p.Val336Ala) c.*1636T>C (n.*1636T>C) c.1052T>C (p.Val351Ala) c.914T>C (p.Val305Ala) c.973+34T>C (n.973+34T>C) | |
| 3 | g.24127636A>T | CA351888765 | THRB | c.1007T>A (p.Val336Glu) c.*1636T>A (n.*1636T>A) c.1052T>A (p.Val351Glu) c.914T>A (p.Val305Glu) c.973+34T>A (n.973+34T>A) | |
| 3 | g.24127637C>A | CA351888766 | THRB | c.1006G>T (p.Val336Leu) c.*1635G>T (n.*1635G>T) c.1051G>T (p.Val351Leu) c.913G>T (p.Val305Leu) c.973+33G>T (n.973+33G>T) | |
| 3 | g.24127637C>G | CA351888767 | THRB | c.1006G>C (p.Val336Leu) c.*1635G>C (n.*1635G>C) c.1051G>C (p.Val351Leu) c.913G>C (p.Val305Leu) c.973+33G>C (n.973+33G>C) | |
| 3 | g.24127637C>T | CA351888768 | THRB | c.1006G>A (p.Val336Met) c.*1635G>A (n.*1635G>A) c.1051G>A (p.Val351Met) c.913G>A (p.Val305Met) c.973+33G>A (n.973+33G>A) | |
| 3 | g.24127638T>A | CA432916209 | THRB | c.1005A>T (p.Ala335=) c.*1634A>T (n.*1634A>T) c.1050A>T (p.Ala350=) c.912A>T (p.Ala304=) c.973+32A>T (n.973+32A>T) | |
| 3 | g.24127638T>C | CA432916210 | THRB | c.1005A>G (p.Ala335=) c.*1634A>G (n.*1634A>G) c.1050A>G (p.Ala350=) c.912A>G (p.Ala304=) c.973+32A>G (n.973+32A>G) | |
| 3 | g.24127638T>G | CA432916211 | THRB | c.1005A>C (p.Ala335=) c.*1634A>C (n.*1634A>C) c.1050A>C (p.Ala350=) c.912A>C (p.Ala304=) c.973+32A>C (n.973+32A>C) | |
| 3 | g.24127639G>A | CA351888769 | THRB | c.1004C>T (p.Ala335Val) c.*1633C>T (n.*1633C>T) c.1049C>T (p.Ala350Val) c.911C>T (p.Ala304Val) c.973+31C>T (n.973+31C>T) | |
| 3 | g.24127639G>C | CA351888770 | THRB | c.1004C>G (p.Ala335Gly) c.*1633C>G (n.*1633C>G) c.1049C>G (p.Ala350Gly) c.911C>G (p.Ala304Gly) c.973+31C>G (n.973+31C>G) | |
| 3 | g.24127639G>T | CA351888771 | THRB | c.1004C>A (p.Ala335Glu) c.*1633C>A (n.*1633C>A) c.1049C>A (p.Ala350Glu) c.911C>A (p.Ala304Glu) c.973+31C>A (n.973+31C>A) | |
| 3 | g.24127640C>A | CA351888772 | THRB | c.1003G>T (p.Ala335Ser) c.*1632G>T (n.*1632G>T) c.1048G>T (p.Ala350Ser) c.910G>T (p.Ala304Ser) c.973+30G>T (n.973+30G>T) | |
| 3 | g.24127640C>G | CA351888774 | THRB | c.1003G>C (p.Ala335Pro) c.*1632G>C (n.*1632G>C) c.1048G>C (p.Ala350Pro) c.910G>C (p.Ala304Pro) c.973+30G>C (n.973+30G>C) | |
| 3 | g.24127640C>T | CA351888773 | THRB | c.1003G>A (p.Ala335Thr) c.*1632G>A (n.*1632G>A) c.1048G>A (p.Ala350Thr) c.910G>A (p.Ala304Thr) c.973+30G>A (n.973+30G>A) | |
| 3 | g.24127641C>A | CA351888775 | THRB | c.1002G>T (p.Met334Ile) c.*1631G>T (n.*1631G>T) c.1047G>T (p.Met349Ile) c.909G>T (p.Met303Ile) c.973+29G>T (n.973+29G>T) | |
| 3 | g.24127641C>G | CA351888776 | THRB | c.1002G>C (p.Met334Ile) c.*1631G>C (n.*1631G>C) c.1047G>C (p.Met349Ile) c.909G>C (p.Met303Ile) c.973+29G>C (n.973+29G>C) | |
| 3 | g.24127641C>T | CA351888777 | THRB | c.1002G>A (p.Met334Ile) c.*1631G>A (n.*1631G>A) c.1047G>A (p.Met349Ile) c.909G>A (p.Met303Ile) c.973+29G>A (n.973+29G>A) | COSMIC |
| 3 | g.24127642A>C | CA351888778 | THRB | c.1001T>G (p.Met334Arg) c.*1630T>G (n.*1630T>G) c.1046T>G (p.Met349Arg) c.908T>G (p.Met303Arg) c.973+28T>G (n.973+28T>G) | |
| 3 | g.24127642A>G | CA351888779 | THRB | c.1001T>C (p.Met334Thr) c.*1630T>C (n.*1630T>C) c.1046T>C (p.Met349Thr) c.908T>C (p.Met303Thr) c.973+28T>C (n.973+28T>C) | |
| 3 | g.24127642A>T | CA351888780 | THRB | c.1001T>A (p.Met334Lys) c.*1630T>A (n.*1630T>A) c.1046T>A (p.Met349Lys) c.908T>A (p.Met303Lys) c.973+28T>A (n.973+28T>A) | |
| 3 | g.24127643T>A | CA351888781 | THRB | c.1000A>T (p.Met334Leu) c.*1629A>T (n.*1629A>T) c.1045A>T (p.Met349Leu) c.907A>T (p.Met303Leu) c.973+27A>T (n.973+27A>T) | |
| 3 | g.24127643T>C | CA351888782 | THRB | c.1000A>G (p.Met334Val) c.*1629A>G (n.*1629A>G) c.1045A>G (p.Met349Val) c.907A>G (p.Met303Val) c.973+27A>G (n.973+27A>G) | gnomAD v4 |
| 3 | g.24127643T>G | CA351888783 | THRB | c.1000A>C (p.Met334Leu) c.*1629A>C (n.*1629A>C) c.1045A>C (p.Met349Leu) c.907A>C (p.Met303Leu) c.973+27A>C (n.973+27A>C) | |
| 3 | g.24127644T>A | CA351888784 | THRB | c.999A>T (p.Glu333Asp) c.*1628A>T (n.*1628A>T) c.1044A>T (p.Glu348Asp) c.906A>T (p.Glu302Asp) c.973+26A>T (n.973+26A>T) | |
| 3 | g.24127644T>C | CA432916216 | THRB | c.999A>G (p.Glu333=) c.*1628A>G (n.*1628A>G) c.1044A>G (p.Glu348=) c.906A>G (p.Glu302=) c.973+26A>G (n.973+26A>G) | |
| 3 | g.24127644T>G | CA351888785 | THRB | c.999A>C (p.Glu333Asp) c.*1628A>C (n.*1628A>C) c.1044A>C (p.Glu348Asp) c.906A>C (p.Glu302Asp) c.973+26A>C (n.973+26A>C) | |
| 3 | g.24127645T>A | CA351888787 | THRB | c.998A>T (p.Glu333Val) c.*1627A>T (n.*1627A>T) c.1043A>T (p.Glu348Val) c.905A>T (p.Glu302Val) c.973+25A>T (n.973+25A>T) | |
| 3 | g.24127645T>C | CA351888788 | THRB | c.998A>G (p.Glu333Gly) c.*1627A>G (n.*1627A>G) c.1043A>G (p.Glu348Gly) c.905A>G (p.Glu302Gly) c.973+25A>G (n.973+25A>G) | ClinVar dbSNP |
| 3 | g.24127645T>G | CA351888786 | THRB | c.998A>C (p.Glu333Ala) c.*1627A>C (n.*1627A>C) c.1043A>C (p.Glu348Ala) c.905A>C (p.Glu302Ala) c.973+25A>C (n.973+25A>C) | |
| 3 | g.24127645T= | CA1351825335 | THRB | c.998A= (p.Glu333=) c.*1627A= (n.*1627A=) c.1043A= (p.Glu348=) c.905A= (p.Glu302=) c.973+25A= (n.973+25A=) | |
| 3 | g.24127646C>A | CA351888791 | THRB | c.997G>T (p.Glu333Ter) c.*1626G>T (n.*1626G>T) c.1042G>T (p.Glu348Ter) c.904G>T (p.Glu302Ter) c.973+24G>T (n.973+24G>T) | |
| 3 | g.24127646C>G | CA351888789 | THRB | c.997G>C (p.Glu333Gln) c.*1626G>C (n.*1626G>C) c.1042G>C (p.Glu348Gln) c.904G>C (p.Glu302Gln) c.973+24G>C (n.973+24G>C) | |
| 3 | g.24127646C>T | CA351888790 | THRB | c.997G>A (p.Glu333Lys) c.*1626G>A (n.*1626G>A) c.1042G>A (p.Glu348Lys) c.904G>A (p.Glu302Lys) c.973+24G>A (n.973+24G>A) | ClinVar dbSNP |
| 3 | g.24127647C>A | CA432916220 | THRB | c.996G>T (p.Gly332=) c.*1625G>T (n.*1625G>T) c.1041G>T (p.Gly347=) c.903G>T (p.Gly301=) c.973+23G>T (n.973+23G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127647C= | CA1351825336 | THRB | c.996G= (p.Gly332=) c.*1625G= (n.*1625G=) c.1041G= (p.Gly347=) c.903G= (p.Gly301=) c.973+23G= (n.973+23G=) | |
| 3 | g.24127647C>G | CA432916221 | THRB | c.996G>C (p.Gly332=) c.*1625G>C (n.*1625G>C) c.1041G>C (p.Gly347=) c.903G>C (p.Gly301=) c.973+23G>C (n.973+23G>C) | |
| 3 | g.24127647C>T | CA2287137 | THRB | c.996G>A (p.Gly332=) c.*1625G>A (n.*1625G>A) c.1041G>A (p.Gly347=) c.903G>A (p.Gly301=) c.973+23G>A (n.973+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127648C>A | CA351888792 | THRB | c.995G>T (p.Gly332Val) c.*1624G>T (n.*1624G>T) c.1040G>T (p.Gly347Val) c.902G>T (p.Gly301Val) c.973+22G>T (n.973+22G>T) | |
| 3 | g.24127648C>G | CA351888793 | THRB | c.995G>C (p.Gly332Ala) c.*1624G>C (n.*1624G>C) c.1040G>C (p.Gly347Ala) c.902G>C (p.Gly301Ala) c.973+22G>C (n.973+22G>C) | |
| 3 | g.24127648C>T | CA351888794 | THRB | c.995G>A (p.Gly332Glu) c.*1624G>A (n.*1624G>A) c.1040G>A (p.Gly347Glu) c.902G>A (p.Gly301Glu) c.973+22G>A (n.973+22G>A) | COSMIC |
| 3 | g.24127649C>A | CA351888795 | THRB | c.994G>T (p.Gly332Trp) c.*1623G>T (n.*1623G>T) c.1039G>T (p.Gly347Trp) c.901G>T (p.Gly301Trp) c.973+21G>T (n.973+21G>T) | |
| 3 | g.24127649C= | CA1351825337 | THRB | c.994G= (p.Gly332=) c.*1623G= (n.*1623G=) c.1039G= (p.Gly347=) c.901G= (p.Gly301=) c.973+21G= (n.973+21G=) | |
| 3 | g.24127649C>G | CA351888796 | THRB | c.994G>C (p.Gly332Arg) c.*1623G>C (n.*1623G>C) c.1039G>C (p.Gly347Arg) c.901G>C (p.Gly301Arg) c.973+21G>C (n.973+21G>C) | |
| 3 | g.24127649C>T | CA122469 | THRB | c.994G>A (p.Gly332Arg) c.*1623G>A (n.*1623G>A) c.1039G>A (p.Gly347Arg) c.901G>A (p.Gly301Arg) c.973+21G>A (n.973+21G>A) | ClinVar dbSNP |
| 3 | g.24127650A= | CA1351825338 | THRB | c.993T= (p.Asn331=) c.*1622T= (n.*1622T=) c.1038T= (p.Asn346=) c.900T= (p.Asn300=) c.973+20T= (n.973+20T=) | |
| 3 | g.24127650A>C | CA351888797 | THRB | c.993T>G (p.Asn331Lys) c.*1622T>G (n.*1622T>G) c.1038T>G (p.Asn346Lys) c.900T>G (p.Asn300Lys) c.973+20T>G (n.973+20T>G) | |
| 3 | g.24127650A>G | CA2287138 | THRB | c.993T>C (p.Asn331=) c.*1622T>C (n.*1622T>C) c.1038T>C (p.Asn346=) c.900T>C (p.Asn300=) c.973+20T>C (n.973+20T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127650A>T | CA351888798 | THRB | c.993T>A (p.Asn331Lys) c.*1622T>A (n.*1622T>A) c.1038T>A (p.Asn346Lys) c.900T>A (p.Asn300Lys) c.973+20T>A (n.973+20T>A) | |
| 3 | g.24127651T>A | CA351888800 | THRB | c.992A>T (p.Asn331Ile) c.*1621A>T (n.*1621A>T) c.1037A>T (p.Asn346Ile) c.899A>T (p.Asn300Ile) c.973+19A>T (n.973+19A>T) | |
| 3 | g.24127651T>C | CA351888801 | THRB | c.992A>G (p.Asn331Ser) c.*1621A>G (n.*1621A>G) c.1037A>G (p.Asn346Ser) c.899A>G (p.Asn300Ser) c.973+19A>G (n.973+19A>G) | |
| 3 | g.24127651T>G | CA351888799 | THRB | c.992A>C (p.Asn331Thr) c.*1621A>C (n.*1621A>C) c.1037A>C (p.Asn346Thr) c.899A>C (p.Asn300Thr) c.973+19A>C (n.973+19A>C) | |
| 3 | g.24127652T>A | CA351888802 | THRB | c.991A>T (p.Asn331Tyr) c.*1620A>T (n.*1620A>T) c.1036A>T (p.Asn346Tyr) c.898A>T (p.Asn300Tyr) c.973+18A>T (n.973+18A>T) | |
| 3 | g.24127652T>C | CA351888803 | THRB | c.991A>G (p.Asn331Asp) c.*1620A>G (n.*1620A>G) c.1036A>G (p.Asn346Asp) c.898A>G (p.Asn300Asp) c.973+18A>G (n.973+18A>G) | |
| 3 | g.24127652T>G | CA351888804 | THRB | c.991A>C (p.Asn331His) c.*1620A>C (n.*1620A>C) c.1036A>C (p.Asn346His) c.898A>C (p.Asn300His) c.973+18A>C (n.973+18A>C) | |
| 3 | g.24127653C>A | CA351888805 | THRB | c.990G>T (p.Leu330Phe) c.*1619G>T (n.*1619G>T) c.1035G>T (p.Leu345Phe) c.897G>T (p.Leu299Phe) c.973+17G>T (n.973+17G>T) | |
| 3 | g.24127653C>G | CA351888806 | THRB | c.990G>C (p.Leu330Phe) c.*1619G>C (n.*1619G>C) c.1035G>C (p.Leu345Phe) c.897G>C (p.Leu299Phe) c.973+17G>C (n.973+17G>C) | |
| 3 | g.24127653C>T | CA432916230 | THRB | c.990G>A (p.Leu330=) c.*1619G>A (n.*1619G>A) c.1035G>A (p.Leu345=) c.897G>A (p.Leu299=) c.973+17G>A (n.973+17G>A) | gnomAD v4 |
| 3 | g.24127654A>C | CA351888809 | THRB | c.989T>G (p.Leu330Trp) c.*1618T>G (n.*1618T>G) c.1034T>G (p.Leu345Trp) c.896T>G (p.Leu299Trp) c.973+16T>G (n.973+16T>G) | |
| 3 | g.24127654A>G | CA351888807 | THRB | c.989T>C (p.Leu330Ser) c.*1618T>C (n.*1618T>C) c.1034T>C (p.Leu345Ser) c.896T>C (p.Leu299Ser) c.973+16T>C (n.973+16T>C) | |
| 3 | g.24127654A>T | CA351888808 | THRB | c.989T>A (p.Leu330Ter) c.*1618T>A (n.*1618T>A) c.1034T>A (p.Leu345Ter) c.896T>A (p.Leu299Ter) c.973+16T>A (n.973+16T>A) | |
| 3 | g.24127655A>C | CA351888810 | THRB | c.988T>G (p.Leu330Val) c.*1617T>G (n.*1617T>G) c.1033T>G (p.Leu345Val) c.895T>G (p.Leu299Val) c.973+15T>G (n.973+15T>G) | |
| 3 | g.24127655A>G | CA432916231 | THRB | c.988T>C (p.Leu330=) c.*1617T>C (n.*1617T>C) c.1033T>C (p.Leu345=) c.895T>C (p.Leu299=) c.973+15T>C (n.973+15T>C) | |
| 3 | g.24127655A>T | CA351888811 | THRB | c.988T>A (p.Leu330Met) c.*1617T>A (n.*1617T>A) c.1033T>A (p.Leu345Met) c.895T>A (p.Leu299Met) c.973+15T>A (n.973+15T>A) | |
| 3 | g.24127656G>A | CA432916232 | THRB | c.987C>T (p.Thr329=) c.*1616C>T (n.*1616C>T) c.1032C>T (p.Thr344=) c.894C>T (p.Thr298=) c.973+14C>T (n.973+14C>T) | |
| 3 | g.24127656G>C | CA432916233 | THRB | c.987C>G (p.Thr329=) c.*1616C>G (n.*1616C>G) c.1032C>G (p.Thr344=) c.894C>G (p.Thr298=) c.973+14C>G (n.973+14C>G) | |
| 3 | g.24127656G>T | CA432916234 | THRB | c.987C>A (p.Thr329=) c.*1616C>A (n.*1616C>A) c.1032C>A (p.Thr344=) c.894C>A (p.Thr298=) c.973+14C>A (n.973+14C>A) | |
| 3 | g.24127657G>A | CA351888812 | THRB | c.986C>T (p.Thr329Ile) c.*1615C>T (n.*1615C>T) c.1031C>T (p.Thr344Ile) c.893C>T (p.Thr298Ile) c.973+13C>T (n.973+13C>T) | |
| 3 | g.24127657G>C | CA351888813 | THRB | c.986C>G (p.Thr329Ser) c.*1615C>G (n.*1615C>G) c.1031C>G (p.Thr344Ser) c.893C>G (p.Thr298Ser) c.973+13C>G (n.973+13C>G) | |
| 3 | g.24127657G>T | CA351888814 | THRB | c.986C>A (p.Thr329Asn) c.*1615C>A (n.*1615C>A) c.1031C>A (p.Thr344Asn) c.893C>A (p.Thr298Asn) c.973+13C>A (n.973+13C>A) | |
| 3 | g.24127658T>A | CA351888817 | THRB | c.985A>T (p.Thr329Ser) c.*1614A>T (n.*1614A>T) c.1030A>T (p.Thr344Ser) c.892A>T (p.Thr298Ser) c.973+12A>T (n.973+12A>T) | |
| 3 | g.24127658T>C | CA351888816 | THRB | c.985A>G (p.Thr329Ala) c.*1614A>G (n.*1614A>G) c.1030A>G (p.Thr344Ala) c.892A>G (p.Thr298Ala) c.973+12A>G (n.973+12A>G) | |
| 3 | g.24127658T>G | CA351888815 | THRB | c.985A>C (p.Thr329Pro) c.*1614A>C (n.*1614A>C) c.1030A>C (p.Thr344Pro) c.892A>C (p.Thr298Pro) c.973+12A>C (n.973+12A>C) | |
| 3 | g.24127659T>A | CA351888818 | THRB | c.984A>T (p.Leu328Phe) c.*1613A>T (n.*1613A>T) c.1029A>T (p.Leu343Phe) c.891A>T (p.Leu297Phe) c.973+11A>T (n.973+11A>T) | |
| 3 | g.24127659T>C | CA432916238 | THRB | c.984A>G (p.Leu328=) c.*1613A>G (n.*1613A>G) c.1029A>G (p.Leu343=) c.891A>G (p.Leu297=) c.973+11A>G (n.973+11A>G) | |
| 3 | g.24127659T>G | CA351888819 | THRB | c.984A>C (p.Leu328Phe) c.*1613A>C (n.*1613A>C) c.1029A>C (p.Leu343Phe) c.891A>C (p.Leu297Phe) c.973+11A>C (n.973+11A>C) | |
| 3 | g.24127660A>C | CA351888820 | THRB | c.983T>G (p.Leu328Ter) c.*1612T>G (n.*1612T>G) c.1028T>G (p.Leu343Ter) c.890T>G (p.Leu297Ter) c.973+10T>G (n.973+10T>G) | |
| 3 | g.24127660A>G | CA351888821 | THRB | c.983T>C (p.Leu328Ser) c.*1612T>C (n.*1612T>C) c.1028T>C (p.Leu343Ser) c.890T>C (p.Leu297Ser) c.973+10T>C (n.973+10T>C) | |
| 3 | g.24127660A>T | CA351888822 | THRB | c.983T>A (p.Leu328Ter) c.*1612T>A (n.*1612T>A) c.1028T>A (p.Leu343Ter) c.890T>A (p.Leu297Ter) c.973+10T>A (n.973+10T>A) | |
| 3 | g.24127661A>C | CA351888823 | THRB | c.982T>G (p.Leu328Val) c.*1611T>G (n.*1611T>G) c.1027T>G (p.Leu343Val) c.889T>G (p.Leu297Val) c.973+9T>G (n.973+9T>G) | |
| 3 | g.24127661A>G | CA432916240 | THRB | c.982T>C (p.Leu328=) c.*1611T>C (n.*1611T>C) c.1027T>C (p.Leu343=) c.889T>C (p.Leu297=) c.973+9T>C (n.973+9T>C) | |
| 3 | g.24127661A>T | CA351888824 | THRB | c.982T>A (p.Leu328Ile) c.*1611T>A (n.*1611T>A) c.1027T>A (p.Leu343Ile) c.889T>A (p.Leu297Ile) c.973+9T>A (n.973+9T>A) | |
| 3 | g.24127662A>C | CA432916243 | THRB | c.981T>G (p.Thr327=) c.*1610T>G (n.*1610T>G) c.1026T>G (p.Thr342=) c.888T>G (p.Thr296=) c.973+8T>G (n.973+8T>G) | |
| 3 | g.24127662A>G | CA432916242 | THRB | c.981T>C (p.Thr327=) c.*1610T>C (n.*1610T>C) c.1026T>C (p.Thr342=) c.888T>C (p.Thr296=) c.973+8T>C (n.973+8T>C) | |
| 3 | g.24127662A>T | CA432916241 | THRB | c.981T>A (p.Thr327=) c.*1610T>A (n.*1610T>A) c.1026T>A (p.Thr342=) c.888T>A (p.Thr296=) c.973+8T>A (n.973+8T>A) | |
| 3 | g.24127663G>A | CA351888827 | THRB | c.980C>T (p.Thr327Ile) c.*1609C>T (n.*1609C>T) c.1025C>T (p.Thr342Ile) c.887C>T (p.Thr296Ile) c.973+7C>T (n.973+7C>T) | ClinVar |
| 3 | g.24127663G>C | CA351888825 | THRB | c.980C>G (p.Thr327Ser) c.*1609C>G (n.*1609C>G) c.1025C>G (p.Thr342Ser) c.887C>G (p.Thr296Ser) c.973+7C>G (n.973+7C>G) | |
| 3 | g.24127663G= | CA1351825339 | THRB | c.980C= (p.Thr327=) c.*1609C= (n.*1609C=) c.1025C= (p.Thr342=) c.887C= (p.Thr296=) c.973+7C= (n.973+7C=) | |
| 3 | g.24127663G>T | CA351888826 | THRB | c.980C>A (p.Thr327Asn) c.*1609C>A (n.*1609C>A) c.1025C>A (p.Thr342Asn) c.887C>A (p.Thr296Asn) c.973+7C>A (n.973+7C>A) | ClinVar dbSNP |
| 3 | g.24127664T>A | CA351888828 | THRB | c.979A>T (p.Thr327Ser) c.*1608A>T (n.*1608A>T) c.1024A>T (p.Thr342Ser) c.886A>T (p.Thr296Ser) c.973+6A>T (n.973+6A>T) | |
| 3 | g.24127664T>C | CA351888829 | THRB | c.979A>G (p.Thr327Ala) c.*1608A>G (n.*1608A>G) c.1024A>G (p.Thr342Ala) c.886A>G (p.Thr296Ala) c.973+6A>G (n.973+6A>G) | |
| 3 | g.24127664T>G | CA351888830 | THRB | c.979A>C (p.Thr327Pro) c.*1608A>C (n.*1608A>C) c.1024A>C (p.Thr342Pro) c.886A>C (p.Thr296Pro) c.973+6A>C (n.973+6A>C) | |
| 3 | g.24127665C>A | CA351888831 | THRB | c.978G>T (p.Glu326Asp) c.*1607G>T (n.*1607G>T) c.1023G>T (p.Glu341Asp) c.885G>T (p.Glu295Asp) c.973+5G>T (n.973+5G>T) | |
| 3 | g.24127665C>G | CA351888832 | THRB | c.978G>C (p.Glu326Asp) c.*1607G>C (n.*1607G>C) c.1023G>C (p.Glu341Asp) c.885G>C (p.Glu295Asp) c.973+5G>C (n.973+5G>C) | |
| 3 | g.24127665C>T | CA432916245 | THRB | c.978G>A (p.Glu326=) c.*1607G>A (n.*1607G>A) c.1023G>A (p.Glu341=) c.885G>A (p.Glu295=) c.973+5G>A (n.973+5G>A) | gnomAD v4 |
| 3 | g.24127666T>A | CA351888833 | THRB | c.977A>T (p.Glu326Val) c.*1606A>T (n.*1606A>T) c.1022A>T (p.Glu341Val) c.884A>T (p.Glu295Val) c.973+4A>T (n.973+4A>T) | |
| 3 | g.24127666T>C | CA16609441 | THRB | c.977A>G (p.Glu326Gly) c.*1606A>G (n.*1606A>G) c.1022A>G (p.Glu341Gly) c.884A>G (p.Glu295Gly) c.973+4A>G (n.973+4A>G) | ClinVar dbSNP |
| 3 | g.24127666T>G | CA351888834 | THRB | c.977A>C (p.Glu326Ala) c.*1606A>C (n.*1606A>C) c.1022A>C (p.Glu341Ala) c.884A>C (p.Glu295Ala) c.973+4A>C (n.973+4A>C) | |
| 3 | g.24127666T= | CA1351825340 | THRB | c.977A= (p.Glu326=) c.*1606A= (n.*1606A=) c.1022A= (p.Glu341=) c.884A= (p.Glu295=) c.973+4A= (n.973+4A=) | |
| 3 | g.24127667C>A | CA351888835 | THRB | c.976G>T (p.Glu326Ter) c.*1605G>T (n.*1605G>T) c.1021G>T (p.Glu341Ter) c.883G>T (p.Glu295Ter) c.973+3G>T (n.973+3G>T) | |
| 3 | g.24127667C>G | CA351888836 | THRB | c.976G>C (p.Glu326Gln) c.*1605G>C (n.*1605G>C) c.1021G>C (p.Glu341Gln) c.883G>C (p.Glu295Gln) c.973+3G>C (n.973+3G>C) | |
| 3 | g.24127667C>T | CA351888837 | THRB | c.976G>A (p.Glu326Lys) c.*1605G>A (n.*1605G>A) c.1021G>A (p.Glu341Lys) c.883G>A (p.Glu295Lys) c.973+3G>A (n.973+3G>A) | |
| 3 | g.24127668A= | CA1351825341 | THRB | c.975T= (p.Ser325=) c.*1604T= (n.*1604T=) c.1020T= (p.Ser340=) c.882T= (p.Ser294=) c.973+2T= (n.973+2T=) | |
| 3 | g.24127668A>C | CA351888838 | THRB | c.975T>G (p.Ser325Arg) c.*1604T>G (n.*1604T>G) c.1020T>G (p.Ser340Arg) c.882T>G (p.Ser294Arg) c.973+2T>G (n.973+2T>G) | |
| 3 | g.24127668A>G | CA2287139 | THRB | c.975T>C (p.Ser325=) c.*1604T>C (n.*1604T>C) c.1020T>C (p.Ser340=) c.882T>C (p.Ser294=) c.973+2T>C (n.973+2T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127668A>T | CA351888839 | THRB | c.975T>A (p.Ser325Arg) c.*1604T>A (n.*1604T>A) c.1020T>A (p.Ser340Arg) c.882T>A (p.Ser294Arg) c.973+2T>A (n.973+2T>A) | |
| 3 | g.24127669C>A | CA351888840 | THRB | c.974G>T (p.Ser325Ile) c.*1603G>T (n.*1603G>T) c.1019G>T (p.Ser340Ile) c.881G>T (p.Ser294Ile) c.973+1G>T (n.973+1G>T) | |
| 3 | g.24127669C>G | CA351888841 | THRB | c.974G>C (p.Ser325Thr) c.*1603G>C (n.*1603G>C) c.1019G>C (p.Ser340Thr) c.881G>C (p.Ser294Thr) c.973+1G>C (n.973+1G>C) | |
| 3 | g.24127669C>T | CA351888842 | THRB | c.974G>A (p.Ser325Asn) c.*1603G>A (n.*1603G>A) c.1019G>A (p.Ser340Asn) c.881G>A (p.Ser294Asn) c.973+1G>A (n.973+1G>A) | |
| 3 | g.24127670T>A | CA351888843 | THRB | c.973A>T (p.Ser325Cys) c.*1602A>T (n.*1602A>T) c.1018A>T (p.Ser340Cys) c.880A>T (p.Ser294Cys) c.973A>T (p.Asn325Tyr) | |
| 3 | g.24127670T>C | CA351888844 | THRB | c.973A>G (p.Ser325Gly) c.*1602A>G (n.*1602A>G) c.1018A>G (p.Ser340Gly) c.880A>G (p.Ser294Gly) c.973A>G (p.Asn325Asp) | |
| 3 | g.24127670T>G | CA351888845 | THRB | c.973A>C (p.Ser325Arg) c.*1602A>C (n.*1602A>C) c.1018A>C (p.Ser340Arg) c.880A>C (p.Ser294Arg) c.973A>C (p.Asn325His) | |
| 3 | g.24127671T>A | CA351888847 | THRB | c.972A>T (p.Glu324Asp) c.*1601A>T (n.*1601A>T) c.1017A>T (p.Glu339Asp) c.879A>T (p.Glu293Asp) | |
| 3 | g.24127671T>C | CA432916250 | THRB | c.972A>G (p.Glu324=) c.*1601A>G (n.*1601A>G) c.1017A>G (p.Glu339=) c.879A>G (p.Glu293=) | |
| 3 | g.24127671T>G | CA351888846 | THRB | c.972A>C (p.Glu324Asp) c.*1601A>C (n.*1601A>C) c.1017A>C (p.Glu339Asp) c.879A>C (p.Glu293Asp) | |
| 3 | g.24127672T>A | CA351888848 | THRB | c.971A>T (p.Glu324Val) c.*1600A>T (n.*1600A>T) c.1016A>T (p.Glu339Val) c.878A>T (p.Glu293Val) | |
| 3 | g.24127672T>C | CA351888850 | THRB | c.971A>G (p.Glu324Gly) c.*1600A>G (n.*1600A>G) c.1016A>G (p.Glu339Gly) c.878A>G (p.Glu293Gly) | gnomAD v4 |
| 3 | g.24127672T>G | CA351888849 | THRB | c.971A>C (p.Glu324Ala) c.*1600A>C (n.*1600A>C) c.1016A>C (p.Glu339Ala) c.878A>C (p.Glu293Ala) | |
| 3 | g.24127672_24127673insAG | CA2566009591 | THRB | c.970_971insCT (p.Glu324AlafsTer6) c.*1599_*1600insCT (n.*1599_*1600insCT) c.1015_1016insCT (p.Glu339AlafsTer6) c.877_878insCT (p.Glu293AlafsTer6) c.970_971insCT (p.Glu324AlafsTer13) | |
| 3 | g.24127673C>A | CA351888851 | THRB | c.970G>T (p.Glu324Ter) c.*1599G>T (n.*1599G>T) c.1015G>T (p.Glu339Ter) c.877G>T (p.Glu293Ter) | |
| 3 | g.24127673C>G | CA351888853 | THRB | c.970G>C (p.Glu324Gln) c.*1599G>C (n.*1599G>C) c.1015G>C (p.Glu339Gln) c.877G>C (p.Glu293Gln) | |
| 3 | g.24127673C>T | CA351888852 | THRB | c.970G>A (p.Glu324Lys) c.*1599G>A (n.*1599G>A) c.1015G>A (p.Glu339Lys) c.877G>A (p.Glu293Lys) | |
| 3 | g.24127674T>A | CA432916252 | THRB | c.969A>T (p.Pro323=) c.*1598A>T (n.*1598A>T) c.1014A>T (p.Pro338=) c.876A>T (p.Pro292=) | |
| 3 | g.24127674T>C | CA432916254 | THRB | c.969A>G (p.Pro323=) c.*1598A>G (n.*1598A>G) c.1014A>G (p.Pro338=) c.876A>G (p.Pro292=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24127674T>G | CA2287140 | THRB | c.969A>C (p.Pro323=) c.*1598A>C (n.*1598A>C) c.1014A>C (p.Pro338=) c.876A>C (p.Pro292=) | dbSNP ExAC gnomAD v4 |
| 3 | g.24127674T= | CA1351825342 | THRB | c.969A= (p.Pro323=) c.*1598A= (n.*1598A=) c.1014A= (p.Pro338=) c.876A= (p.Pro292=) | |
| 3 | g.24127675G>A | CA351888855 | THRB | c.968C>T (p.Pro323Leu) c.*1597C>T (n.*1597C>T) c.1013C>T (p.Pro338Leu) c.875C>T (p.Pro292Leu) | |
| 3 | g.24127675G>C | CA351888854 | THRB | c.968C>G (p.Pro323Arg) c.*1597C>G (n.*1597C>G) c.1013C>G (p.Pro338Arg) c.875C>G (p.Pro292Arg) | |
| 3 | g.24127675G>T | CA351888856 | THRB | c.968C>A (p.Pro323Gln) c.*1597C>A (n.*1597C>A) c.1013C>A (p.Pro338Gln) c.875C>A (p.Pro292Gln) | |
| 3 | g.24127676G>A | CA351888857 | THRB | c.967C>T (p.Pro323Ser) c.*1596C>T (n.*1596C>T) c.1012C>T (p.Pro338Ser) c.874C>T (p.Pro292Ser) | gnomAD v4 |
| 3 | g.24127676G>C | CA351888858 | THRB | c.967C>G (p.Pro323Ala) c.*1596C>G (n.*1596C>G) c.1012C>G (p.Pro338Ala) c.874C>G (p.Pro292Ala) | |
| 3 | g.24127676G>T | CA351888859 | THRB | c.967C>A (p.Pro323Thr) c.*1596C>A (n.*1596C>A) c.1012C>A (p.Pro338Thr) c.874C>A (p.Pro292Thr) | |
| 3 | g.24127677G>A | CA432916255 | THRB | c.966C>T (p.Asp322=) c.*1595C>T (n.*1595C>T) c.1011C>T (p.Asp337=) c.873C>T (p.Asp291=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127677G>C | CA351888860 | THRB | c.966C>G (p.Asp322Glu) c.*1595C>G (n.*1595C>G) c.1011C>G (p.Asp337Glu) c.873C>G (p.Asp291Glu) | |
| 3 | g.24127677G= | CA1351825343 | THRB | c.966C= (p.Asp322=) c.*1595C= (n.*1595C=) c.1011C= (p.Asp337=) c.873C= (p.Asp291=) | |
| 3 | g.24127677G>T | CA351888861 | THRB | c.966C>A (p.Asp322Glu) c.*1595C>A (n.*1595C>A) c.1011C>A (p.Asp337Glu) c.873C>A (p.Asp291Glu) | |
| 3 | g.24127678T>A | CA351888862 | THRB | c.965A>T (p.Asp322Val) c.*1594A>T (n.*1594A>T) c.1010A>T (p.Asp337Val) c.872A>T (p.Asp291Val) | |
| 3 | g.24127678T>C | CA351888863 | THRB | c.965A>G (p.Asp322Gly) c.*1594A>G (n.*1594A>G) c.1010A>G (p.Asp337Gly) c.872A>G (p.Asp291Gly) | |
| 3 | g.24127678T>G | CA351888864 | THRB | c.965A>C (p.Asp322Ala) c.*1594A>C (n.*1594A>C) c.1010A>C (p.Asp337Ala) c.872A>C (p.Asp291Ala) | |
| 3 | g.24127679C>A | CA351888865 | THRB | c.964G>T (p.Asp322Tyr) c.*1593G>T (n.*1593G>T) c.1009G>T (p.Asp337Tyr) c.871G>T (p.Asp291Tyr) | |
| 3 | g.24127679C= | CA1351825344 | THRB | c.964G= (p.Asp322=) c.*1593G= (n.*1593G=) c.1009G= (p.Asp337=) c.871G= (p.Asp291=) | |
| 3 | g.24127679C>G | CA122465 | THRB | c.964G>C (p.Asp322His) c.*1593G>C (n.*1593G>C) c.1009G>C (p.Asp337His) c.871G>C (p.Asp291His) | ClinVar dbSNP |
| 3 | g.24127679C>T | CA351888866 | THRB | c.964G>A (p.Asp322Asn) c.*1593G>A (n.*1593G>A) c.1009G>A (p.Asp337Asn) c.871G>A (p.Asp291Asn) | |
| 3 | g.24127680A= | CA1351825345 | THRB | c.963T= (p.Tyr321=) c.*1592T= (n.*1592T=) c.1008T= (p.Tyr336=) c.870T= (p.Tyr290=) | |
| 3 | g.24127680A>C | CA351888868 | THRB | c.963T>G (p.Tyr321Ter) c.*1592T>G (n.*1592T>G) c.1008T>G (p.Tyr336Ter) c.870T>G (p.Tyr290Ter) | |
| 3 | g.24127680A>G | CA71608675 | THRB | c.963T>C (p.Tyr321=) c.*1592T>C (n.*1592T>C) c.1008T>C (p.Tyr336=) c.870T>C (p.Tyr290=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127680A>T | CA351888867 | THRB | c.963T>A (p.Tyr321Ter) c.*1592T>A (n.*1592T>A) c.1008T>A (p.Tyr336Ter) c.870T>A (p.Tyr290Ter) | |
| 3 | g.24127681T>A | CA351888869 | THRB | c.962A>T (p.Tyr321Phe) c.*1591A>T (n.*1591A>T) c.1007A>T (p.Tyr336Phe) c.869A>T (p.Tyr290Phe) | |
| 3 | g.24127681T>C | CA351888870 | THRB | c.962A>G (p.Tyr321Cys) c.*1591A>G (n.*1591A>G) c.1007A>G (p.Tyr336Cys) c.869A>G (p.Tyr290Cys) | ClinVar dbSNP |
| 3 | g.24127681T>G | CA351888871 | THRB | c.962A>C (p.Tyr321Ser) c.*1591A>C (n.*1591A>C) c.1007A>C (p.Tyr336Ser) c.869A>C (p.Tyr290Ser) | |
| 3 | g.24127681T= | CA1351825347 | THRB | c.962A= (p.Tyr321=) c.*1591A= (n.*1591A=) c.1007A= (p.Tyr336=) c.869A= (p.Tyr290=) | |
| 3 | g.24127682A>C | CA351888872 | THRB | c.961T>G (p.Tyr321Asp) c.*1590T>G (n.*1590T>G) c.1006T>G (p.Tyr336Asp) c.868T>G (p.Tyr290Asp) | |
| 3 | g.24127682A>G | CA351888873 | THRB | c.961T>C (p.Tyr321His) c.*1590T>C (n.*1590T>C) c.1006T>C (p.Tyr336His) c.868T>C (p.Tyr290His) | |
| 3 | g.24127682A>T | CA351888874 | THRB | c.961T>A (p.Tyr321Asn) c.*1590T>A (n.*1590T>A) c.1006T>A (p.Tyr336Asn) c.868T>A (p.Tyr290Asn) | |
| 3 | g.24127683G>A | CA2287141 | THRB | c.960C>T (p.Arg320=) c.*1589C>T (n.*1589C>T) c.1005C>T (p.Arg335=) c.867C>T (p.Arg289=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.24127683G>C | CA432916265 | THRB | c.960C>G (p.Arg320=) c.*1589C>G (n.*1589C>G) c.1005C>G (p.Arg335=) c.867C>G (p.Arg289=) | |
| 3 | g.24127683G= | CA1351825348 | THRB | c.960C= (p.Arg320=) c.*1589C= (n.*1589C=) c.1005C= (p.Arg335=) c.867C= (p.Arg289=) | |
| 3 | g.24127683G>T | CA432916266 | THRB | c.960C>A (p.Arg320=) c.*1589C>A (n.*1589C>A) c.1005C>A (p.Arg335=) c.867C>A (p.Arg289=) | |
| 3 | g.24127684C>A | CA122501 | THRB | c.959G>T (p.Arg320Leu) c.*1588G>T (n.*1588G>T) c.1004G>T (p.Arg335Leu) c.866G>T (p.Arg289Leu) | ClinVar dbSNP |
| 3 | g.24127684C= | CA1351825349 | THRB | c.959G= (p.Arg320=) c.*1588G= (n.*1588G=) c.1004G= (p.Arg335=) c.866G= (p.Arg289=) | |
| 3 | g.24127684C>G | CA351888875 | THRB | c.959G>C (p.Arg320Pro) c.*1588G>C (n.*1588G>C) c.1004G>C (p.Arg335Pro) c.866G>C (p.Arg289Pro) | |
| 3 | g.24127684C>T | CA122487 | THRB | c.959G>A (p.Arg320His) c.*1588G>A (n.*1588G>A) c.1004G>A (p.Arg335His) c.866G>A (p.Arg289His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.24127685G>A | CA122493 | THRB | c.958C>T (p.Arg320Cys) c.*1587C>T (n.*1587C>T) c.1003C>T (p.Arg335Cys) c.865C>T (p.Arg289Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.24127685G>C | CA351888877 | THRB | c.958C>G (p.Arg320Gly) c.*1587C>G (n.*1587C>G) c.1003C>G (p.Arg335Gly) c.865C>G (p.Arg289Gly) | |
| 3 | g.24127685G= | CA1351825351 | THRB | c.958C= (p.Arg320=) c.*1587C= (n.*1587C=) c.1003C= (p.Arg335=) c.865C= (p.Arg289=) | |
| 3 | g.24127685G>T | CA351888876 | THRB | c.958C>A (p.Arg320Ser) c.*1587C>A (n.*1587C>A) c.1003C>A (p.Arg335Ser) c.865C>A (p.Arg289Ser) | ClinVar dbSNP |