UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 3 | g.24127686C>A | CA432916270 | THRB | c.957G>T (p.Val319=) c.*1586G>T (n.*1586G>T) c.1002G>T (p.Val334=) c.864G>T (p.Val288=) | |
| 3 | g.24127686C>G | CA432916271 | THRB | c.957G>C (p.Val319=) c.*1586G>C (n.*1586G>C) c.1002G>C (p.Val334=) c.864G>C (p.Val288=) | |
| 3 | g.24127686C>T | CA432916272 | THRB | c.957G>A (p.Val319=) c.*1586G>A (n.*1586G>A) c.1002G>A (p.Val334=) c.864G>A (p.Val288=) | |
| 3 | g.24127687A>C | CA351888878 | THRB | c.956T>G (p.Val319Gly) c.*1585T>G (n.*1585T>G) c.1001T>G (p.Val334Gly) c.863T>G (p.Val288Gly) | |
| 3 | g.24127687A>G | CA351888879 | THRB | c.956T>C (p.Val319Ala) c.*1585T>C (n.*1585T>C) c.1001T>C (p.Val334Ala) c.863T>C (p.Val288Ala) | |
| 3 | g.24127687A>T | CA351888880 | THRB | c.956T>A (p.Val319Glu) c.*1585T>A (n.*1585T>A) c.1001T>A (p.Val334Glu) c.863T>A (p.Val288Glu) | |
| 3 | g.24127688C>A | CA351888881 | THRB | c.955G>T (p.Val319Leu) c.*1584G>T (n.*1584G>T) c.1000G>T (p.Val334Leu) c.862G>T (p.Val288Leu) | |
| 3 | g.24127688C= | CA1351825353 | THRB | c.955G= (p.Val319=) c.*1584G= (n.*1584G=) c.1000G= (p.Val334=) c.862G= (p.Val288=) | |
| 3 | g.24127688C>G | CA351888882 | THRB | c.955G>C (p.Val319Leu) c.*1584G>C (n.*1584G>C) c.1000G>C (p.Val334Leu) c.862G>C (p.Val288Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24127688C>T | CA351888883 | THRB | c.955G>A (p.Val319Met) c.*1584G>A (n.*1584G>A) c.1000G>A (p.Val334Met) c.862G>A (p.Val288Met) | COSMIC |
| 3 | g.24127689A= | CA1351825354 | THRB | c.954T= (p.Ala318=) c.*1583T= (n.*1583T=) c.999T= (p.Ala333=) c.861T= (p.Ala287=) | |
| 3 | g.24127689A>C | CA432916273 | THRB | c.954T>G (p.Ala318=) c.*1583T>G (n.*1583T>G) c.999T>G (p.Ala333=) c.861T>G (p.Ala287=) | |
| 3 | g.24127689A>G | CA432916274 | THRB | c.954T>C (p.Ala318=) c.*1583T>C (n.*1583T>C) c.999T>C (p.Ala333=) c.861T>C (p.Ala287=) | dbSNP |
| 3 | g.24127689A>T | CA432916275 | THRB | c.954T>A (p.Ala318=) c.*1583T>A (n.*1583T>A) c.999T>A (p.Ala333=) c.861T>A (p.Ala287=) | |
| 3 | g.24127690G>A | CA351888884 | THRB | c.953C>T (p.Ala318Val) c.*1582C>T (n.*1582C>T) c.998C>T (p.Ala333Val) c.860C>T (p.Ala287Val) | |
| 3 | g.24127690G>C | CA351888885 | THRB | c.953C>G (p.Ala318Gly) c.*1582C>G (n.*1582C>G) c.998C>G (p.Ala333Gly) c.860C>G (p.Ala287Gly) | |
| 3 | g.24127690G>T | CA351888886 | THRB | c.953C>A (p.Ala318Asp) c.*1582C>A (n.*1582C>A) c.998C>A (p.Ala333Asp) c.860C>A (p.Ala287Asp) | |
| 3 | g.24127691C>A | CA351888887 | THRB | c.952G>T (p.Ala318Ser) c.*1581G>T (n.*1581G>T) c.997G>T (p.Ala333Ser) c.859G>T (p.Ala287Ser) | gnomAD v4 |
| 3 | g.24127691C>G | CA351888888 | THRB | c.952G>C (p.Ala318Pro) c.*1581G>C (n.*1581G>C) c.997G>C (p.Ala333Pro) c.859G>C (p.Ala287Pro) | |
| 3 | g.24127691C>T | CA351888889 | THRB | c.952G>A (p.Ala318Thr) c.*1581G>A (n.*1581G>A) c.997G>A (p.Ala333Thr) c.859G>A (p.Ala287Thr) | |
| 3 | g.24127692A>C | CA432916279 | THRB | c.951T>G (p.Ala317=) c.*1580T>G (n.*1580T>G) c.996T>G (p.Ala332=) c.858T>G (p.Ala286=) | |
| 3 | g.24127692A>G | CA432916280 | THRB | c.951T>C (p.Ala317=) c.*1580T>C (n.*1580T>C) c.996T>C (p.Ala332=) c.858T>C (p.Ala286=) | |
| 3 | g.24127692A>T | CA432916281 | THRB | c.951T>A (p.Ala317=) c.*1580T>A (n.*1580T>A) c.996T>A (p.Ala332=) c.858T>A (p.Ala286=) | |
| 3 | g.24127693G>A | CA351888892 | THRB | c.950C>T (p.Ala317Val) c.*1579C>T (n.*1579C>T) c.995C>T (p.Ala332Val) c.857C>T (p.Ala286Val) | |
| 3 | g.24127693G>C | CA351888890 | THRB | c.950C>G (p.Ala317Gly) c.*1579C>G (n.*1579C>G) c.995C>G (p.Ala332Gly) c.857C>G (p.Ala286Gly) | |
| 3 | g.24127693G>T | CA351888891 | THRB | c.950C>A (p.Ala317Asp) c.*1579C>A (n.*1579C>A) c.995C>A (p.Ala332Asp) c.857C>A (p.Ala286Asp) | |
| 3 | g.24127694C>A | CA351888893 | THRB | c.949G>T (p.Ala317Ser) c.*1578G>T (n.*1578G>T) c.994G>T (p.Ala332Ser) c.856G>T (p.Ala286Ser) | ClinVar dbSNP |
| 3 | g.24127694C= | CA1351825355 | THRB | c.949G= (p.Ala317=) c.*1578G= (n.*1578G=) c.994G= (p.Ala332=) c.856G= (p.Ala286=) | |
| 3 | g.24127694C>G | CA351888894 | THRB | c.949G>C (p.Ala317Pro) c.*1578G>C (n.*1578G>C) c.994G>C (p.Ala332Pro) c.856G>C (p.Ala286Pro) | |
| 3 | g.24127694C>T | CA122467 | THRB | c.949G>A (p.Ala317Thr) c.*1578G>A (n.*1578G>A) c.994G>A (p.Ala332Thr) c.856G>A (p.Ala286Thr) | ClinVar dbSNP COSMIC |
| 3 | g.24127695G>A | CA2287142 | THRB | c.948C>T (p.Arg316=) c.*1577C>T (n.*1577C>T) c.993C>T (p.Arg331=) c.855C>T (p.Arg285=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127695G>C | CA432916285 | THRB | c.948C>G (p.Arg316=) c.*1577C>G (n.*1577C>G) c.993C>G (p.Arg331=) c.855C>G (p.Arg285=) | |
| 3 | g.24127695G= | CA1351825356 | THRB | c.948C= (p.Arg316=) c.*1577C= (n.*1577C=) c.993C= (p.Arg331=) c.855C= (p.Arg285=) | |
| 3 | g.24127695G>T | CA432916286 | THRB | c.948C>A (p.Arg316=) c.*1577C>A (n.*1577C>A) c.993C>A (p.Arg331=) c.855C>A (p.Arg285=) | |
| 3 | g.24127696C>A | CA351888895 | THRB | c.947G>T (p.Arg316Leu) c.*1576G>T (n.*1576G>T) c.992G>T (p.Arg331Leu) c.854G>T (p.Arg285Leu) | |
| 3 | g.24127696C= | CA1351825357 | THRB | c.947G= (p.Arg316=) c.*1576G= (n.*1576G=) c.992G= (p.Arg331=) c.854G= (p.Arg285=) | |
| 3 | g.24127696C>G | CA351888896 | THRB | c.947G>C (p.Arg316Pro) c.*1576G>C (n.*1576G>C) c.992G>C (p.Arg331Pro) c.854G>C (p.Arg285Pro) | |
| 3 | g.24127696C>T | CA122491 | THRB | c.947G>A (p.Arg316His) c.*1576G>A (n.*1576G>A) c.992G>A (p.Arg331His) c.854G>A (p.Arg285His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24127697G>A | CA351888897 | THRB | c.946C>T (p.Arg316Cys) c.*1575C>T (n.*1575C>T) c.991C>T (p.Arg331Cys) c.853C>T (p.Arg285Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127697G>C | CA351888898 | THRB | c.946C>G (p.Arg316Gly) c.*1575C>G (n.*1575C>G) c.991C>G (p.Arg331Gly) c.853C>G (p.Arg285Gly) | |
| 3 | g.24127697G= | CA1351825359 | THRB | c.946C= (p.Arg316=) c.*1575C= (n.*1575C=) c.991C= (p.Arg331=) c.853C= (p.Arg285=) | |
| 3 | g.24127697G>T | CA351888899 | THRB | c.946C>A (p.Arg316Ser) c.*1575C>A (n.*1575C>A) c.991C>A (p.Arg331Ser) c.853C>A (p.Arg285Ser) | |
| 3 | g.24127698A>C | CA432916289 | THRB | c.945T>G (p.Leu315=) c.*1574T>G (n.*1574T>G) c.990T>G (p.Leu330=) c.852T>G (p.Leu284=) | |
| 3 | g.24127698A>G | CA432916290 | THRB | c.945T>C (p.Leu315=) c.*1574T>C (n.*1574T>C) c.990T>C (p.Leu330=) c.852T>C (p.Leu284=) | |
| 3 | g.24127698A>T | CA432916292 | THRB | c.945T>A (p.Leu315=) c.*1574T>A (n.*1574T>A) c.990T>A (p.Leu330=) c.852T>A (p.Leu284=) | |
| 3 | g.24127699A>C | CA351888900 | THRB | c.944T>G (p.Leu315Arg) c.*1573T>G (n.*1573T>G) c.989T>G (p.Leu330Arg) c.851T>G (p.Leu284Arg) | |
| 3 | g.24127699A>G | CA351888901 | THRB | c.944T>C (p.Leu315Pro) c.*1573T>C (n.*1573T>C) c.989T>C (p.Leu330Pro) c.851T>C (p.Leu284Pro) | |
| 3 | g.24127699A>T | CA351888902 | THRB | c.944T>A (p.Leu315His) c.*1573T>A (n.*1573T>A) c.989T>A (p.Leu330His) c.851T>A (p.Leu284His) | |
| 3 | g.24127700G>A | CA351888904 | THRB | c.943C>T (p.Leu315Phe) c.*1572C>T (n.*1572C>T) c.988C>T (p.Leu330Phe) c.850C>T (p.Leu284Phe) | |
| 3 | g.24127700G>C | CA351888905 | THRB | c.943C>G (p.Leu315Val) c.*1572C>G (n.*1572C>G) c.988C>G (p.Leu330Val) c.850C>G (p.Leu284Val) | |
| 3 | g.24127700G>T | CA351888903 | THRB | c.943C>A (p.Leu315Ile) c.*1572C>A (n.*1572C>A) c.988C>A (p.Leu330Ile) c.850C>A (p.Leu284Ile) | |
| 3 | g.24127702del | CA2577530547 | THRB | c.943del (p.Leu315PhefsTer14) c.*1572del (n.*1572del) c.988del (p.Leu330PhefsTer14) c.850del (p.Leu284PhefsTer14) c.943del (p.Leu315PhefsTer21) | |
| 3 | g.24127701G>A | CA432916298 | THRB | c.942C>T (p.Ser314=) c.*1571C>T (n.*1571C>T) c.987C>T (p.Ser329=) c.849C>T (p.Ser283=) | |
| 3 | g.24127701G>C | CA432916299 | THRB | c.942C>G (p.Ser314=) c.*1571C>G (n.*1571C>G) c.987C>G (p.Ser329=) c.849C>G (p.Ser283=) | |
| 3 | g.24127701G>T | CA432916300 | THRB | c.942C>A (p.Ser314=) c.*1571C>A (n.*1571C>A) c.987C>A (p.Ser329=) c.849C>A (p.Ser283=) | |
| 3 | g.24127702G>A | CA351888908 | THRB | c.941C>T (p.Ser314Phe) c.*1570C>T (n.*1570C>T) c.986C>T (p.Ser329Phe) c.848C>T (p.Ser283Phe) | ClinVar dbSNP |
| 3 | g.24127702G>C | CA351888906 | THRB | c.941C>G (p.Ser314Cys) c.*1570C>G (n.*1570C>G) c.986C>G (p.Ser329Cys) c.848C>G (p.Ser283Cys) | |
| 3 | g.24127702G= | CA1351825360 | THRB | c.941C= (p.Ser314=) c.*1570C= (n.*1570C=) c.986C= (p.Ser329=) c.848C= (p.Ser283=) | |
| 3 | g.24127702G>T | CA351888907 | THRB | c.941C>A (p.Ser314Tyr) c.*1570C>A (n.*1570C>A) c.986C>A (p.Ser329Tyr) c.848C>A (p.Ser283Tyr) | |
| 3 | g.24127703A>C | CA351888909 | THRB | c.940T>G (p.Ser314Ala) c.*1569T>G (n.*1569T>G) c.985T>G (p.Ser329Ala) c.847T>G (p.Ser283Ala) | |
| 3 | g.24127703A>G | CA351888910 | THRB | c.940T>C (p.Ser314Pro) c.*1569T>C (n.*1569T>C) c.985T>C (p.Ser329Pro) c.847T>C (p.Ser283Pro) | COSMIC |
| 3 | g.24127703A>T | CA351888911 | THRB | c.940T>A (p.Ser314Thr) c.*1569T>A (n.*1569T>A) c.985T>A (p.Ser329Thr) c.847T>A (p.Ser283Thr) | |
| 3 | g.24127704C>A | CA351888912 | THRB | c.939G>T (p.Met313Ile) c.*1568G>T (n.*1568G>T) c.984G>T (p.Met328Ile) c.846G>T (p.Met282Ile) | |
| 3 | g.24127704C>G | CA351888913 | THRB | c.939G>C (p.Met313Ile) c.*1568G>C (n.*1568G>C) c.984G>C (p.Met328Ile) c.846G>C (p.Met282Ile) | |
| 3 | g.24127704C>T | CA351888914 | THRB | c.939G>A (p.Met313Ile) c.*1568G>A (n.*1568G>A) c.984G>A (p.Met328Ile) c.846G>A (p.Met282Ile) | |
| 3 | g.24127705A= | CA1351825361 | THRB | c.938T= (p.Met313=) c.*1567T= (n.*1567T=) c.983T= (p.Met328=) c.845T= (p.Met282=) | |
| 3 | g.24127705A>C | CA351888915 | THRB | c.938T>G (p.Met313Arg) c.*1567T>G (n.*1567T>G) c.983T>G (p.Met328Arg) c.845T>G (p.Met282Arg) | |
| 3 | g.24127705A>G | CA351888916 | THRB | c.938T>C (p.Met313Thr) c.*1567T>C (n.*1567T>C) c.983T>C (p.Met328Thr) c.845T>C (p.Met282Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.24127705A>T | CA351888917 | THRB | c.938T>A (p.Met313Lys) c.*1567T>A (n.*1567T>A) c.983T>A (p.Met328Lys) c.845T>A (p.Met282Lys) | |
| 3 | g.24127706T>A | CA351888920 | THRB | c.937A>T (p.Met313Leu) c.*1566A>T (n.*1566A>T) c.982A>T (p.Met328Leu) c.844A>T (p.Met282Leu) | |
| 3 | g.24127706T>C | CA351888919 | THRB | c.937A>G (p.Met313Val) c.*1566A>G (n.*1566A>G) c.982A>G (p.Met328Val) c.844A>G (p.Met282Val) | ClinVar dbSNP |
| 3 | g.24127706T>G | CA351888918 | THRB | c.937A>C (p.Met313Leu) c.*1566A>C (n.*1566A>C) c.982A>C (p.Met328Leu) c.844A>C (p.Met282Leu) | |
| 3 | g.24127706T= | CA1351825362 | THRB | c.937A= (p.Met313=) c.*1566A= (n.*1566A=) c.982A= (p.Met328=) c.844A= (p.Met282=) | |
| 3 | g.24127707G>A | CA432916305 | THRB | c.936C>T (p.Ile312=) c.*1565C>T (n.*1565C>T) c.981C>T (p.Ile327=) c.843C>T (p.Ile281=) | |
| 3 | g.24127707G>C | CA351888921 | THRB | c.936C>G (p.Ile312Met) c.*1565C>G (n.*1565C>G) c.981C>G (p.Ile327Met) c.843C>G (p.Ile281Met) | gnomAD v4 |
| 3 | g.24127707G>T | CA432916306 | THRB | c.936C>A (p.Ile312=) c.*1565C>A (n.*1565C>A) c.981C>A (p.Ile327=) c.843C>A (p.Ile281=) | |
| 3 | g.24127708A>C | CA351888922 | THRB | c.935T>G (p.Ile312Ser) c.*1564T>G (n.*1564T>G) c.980T>G (p.Ile327Ser) c.842T>G (p.Ile281Ser) | |
| 3 | g.24127708A>G | CA351888923 | THRB | c.935T>C (p.Ile312Thr) c.*1564T>C (n.*1564T>C) c.980T>C (p.Ile327Thr) c.842T>C (p.Ile281Thr) | |
| 3 | g.24127708A>T | CA351888924 | THRB | c.935T>A (p.Ile312Asn) c.*1564T>A (n.*1564T>A) c.980T>A (p.Ile327Asn) c.842T>A (p.Ile281Asn) | |
| 3 | g.24127709T>A | CA351888925 | THRB | c.934A>T (p.Ile312Phe) c.*1563A>T (n.*1563A>T) c.979A>T (p.Ile327Phe) c.841A>T (p.Ile281Phe) | |
| 3 | g.24127709T>C | CA351888926 | THRB | c.934A>G (p.Ile312Val) c.*1563A>G (n.*1563A>G) c.979A>G (p.Ile327Val) c.841A>G (p.Ile281Val) | |
| 3 | g.24127709T>G | CA351888927 | THRB | c.934A>C (p.Ile312Leu) c.*1563A>C (n.*1563A>C) c.979A>C (p.Ile327Leu) c.841A>C (p.Ile281Leu) | |
| 3 | g.24127710C>A | CA351888928 | THRB | c.933G>T (p.Glu311Asp) c.*1562G>T (n.*1562G>T) c.978G>T (p.Glu326Asp) c.840G>T (p.Glu280Asp) | |
| 3 | g.24127710C>G | CA351888929 | THRB | c.933G>C (p.Glu311Asp) c.*1562G>C (n.*1562G>C) c.978G>C (p.Glu326Asp) c.840G>C (p.Glu280Asp) | |
| 3 | g.24127710C>T | CA432916307 | THRB | c.933G>A (p.Glu311=) c.*1562G>A (n.*1562G>A) c.978G>A (p.Glu326=) c.840G>A (p.Glu280=) | |
| 3 | g.24127711T>A | CA351888930 | THRB | c.932A>T (p.Glu311Val) c.*1561A>T (n.*1561A>T) c.977A>T (p.Glu326Val) c.839A>T (p.Glu280Val) | |
| 3 | g.24127711T>C | CA351888931 | THRB | c.932A>G (p.Glu311Gly) c.*1561A>G (n.*1561A>G) c.977A>G (p.Glu326Gly) c.839A>G (p.Glu280Gly) | |
| 3 | g.24127711T>G | CA351888932 | THRB | c.932A>C (p.Glu311Ala) c.*1561A>C (n.*1561A>C) c.977A>C (p.Glu326Ala) c.839A>C (p.Glu280Ala) | |
| 3 | g.24127712C>A | CA351888934 | THRB | c.931G>T (p.Glu311Ter) c.*1560G>T (n.*1560G>T) c.976G>T (p.Glu326Ter) c.838G>T (p.Glu280Ter) | |
| 3 | g.24127712C>G | CA351888935 | THRB | c.931G>C (p.Glu311Gln) c.*1560G>C (n.*1560G>C) c.976G>C (p.Glu326Gln) c.838G>C (p.Glu280Gln) | dbSNP |
| 3 | g.24127712C>T | CA351888933 | THRB | c.931G>A (p.Glu311Lys) c.*1560G>A (n.*1560G>A) c.976G>A (p.Glu326Lys) c.838G>A (p.Glu280Lys) | |
| 3 | g.24127713C>A | CA351888936 | THRB | c.930G>T (p.Met310Ile) c.*1559G>T (n.*1559G>T) c.975G>T (p.Met325Ile) c.837G>T (p.Met279Ile) | |
| 3 | g.24127713C>G | CA351888937 | THRB | c.930G>C (p.Met310Ile) c.*1559G>C (n.*1559G>C) c.975G>C (p.Met325Ile) c.837G>C (p.Met279Ile) | |
| 3 | g.24127713C>T | CA351888938 | THRB | c.930G>A (p.Met310Ile) c.*1559G>A (n.*1559G>A) c.975G>A (p.Met325Ile) c.837G>A (p.Met279Ile) | |
| 3 | g.24127714A= | CA1351825366 | THRB | c.929T= (p.Met310=) c.*1558T= (n.*1558T=) c.974T= (p.Met325=) c.836T= (p.Met279=) | |
| 3 | g.24127714A>C | CA351888939 | THRB | c.929T>G (p.Met310Arg) c.*1558T>G (n.*1558T>G) c.974T>G (p.Met325Arg) c.836T>G (p.Met279Arg) | |
| 3 | g.24127714A>G | CA122463 | THRB | c.929T>C (p.Met310Thr) c.*1558T>C (n.*1558T>C) c.974T>C (p.Met325Thr) c.836T>C (p.Met279Thr) | ClinVar dbSNP |
| 3 | g.24127714A>T | CA351888940 | THRB | c.929T>A (p.Met310Lys) c.*1558T>A (n.*1558T>A) c.974T>A (p.Met325Lys) c.836T>A (p.Met279Lys) | |
| 3 | g.24127715T>A | CA351888941 | THRB | c.928A>T (p.Met310Leu) c.*1557A>T (n.*1557A>T) c.973A>T (p.Met325Leu) c.835A>T (p.Met279Leu) | ClinVar dbSNP |
| 3 | g.24127715T>C | CA351888942 | THRB | c.928A>G (p.Met310Val) c.*1557A>G (n.*1557A>G) c.973A>G (p.Met325Val) c.835A>G (p.Met279Val) | ClinVar dbSNP |
| 3 | g.24127715T>G | CA351888943 | THRB | c.928A>C (p.Met310Leu) c.*1557A>C (n.*1557A>C) c.973A>C (p.Met325Leu) c.835A>C (p.Met279Leu) | |
| 3 | g.24127715T= | CA1351825376 | THRB | c.928A= (p.Met310=) c.*1557A= (n.*1557A=) c.973A= (p.Met325=) c.835A= (p.Met279=) | |
| 3 | g.24127716G>A | CA2287143 | THRB | c.927C>T (p.Cys309=) c.*1556C>T (n.*1556C>T) c.972C>T (p.Cys324=) c.834C>T (p.Cys278=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24127716G>C | CA351888944 | THRB | c.927C>G (p.Cys309Trp) c.*1556C>G (n.*1556C>G) c.972C>G (p.Cys324Trp) c.834C>G (p.Cys278Trp) | |
| 3 | g.24127716G= | CA1351825379 | THRB | c.927C= (p.Cys309=) c.*1556C= (n.*1556C=) c.972C= (p.Cys324=) c.834C= (p.Cys278=) | |
| 3 | g.24127716G>T | CA351888945 | THRB | c.927C>A (p.Cys309Ter) c.*1556C>A (n.*1556C>A) c.972C>A (p.Cys324Ter) c.834C>A (p.Cys278Ter) | |
| 3 | g.24127717C>A | CA351888947 | THRB | c.926G>T (p.Cys309Phe) c.*1555G>T (n.*1555G>T) c.971G>T (p.Cys324Phe) c.833G>T (p.Cys278Phe) | |
| 3 | g.24127717C>G | CA351888948 | THRB | c.926G>C (p.Cys309Ser) c.*1555G>C (n.*1555G>C) c.971G>C (p.Cys324Ser) c.833G>C (p.Cys278Ser) | |
| 3 | g.24127717C>T | CA351888946 | THRB | c.926G>A (p.Cys309Tyr) c.*1555G>A (n.*1555G>A) c.971G>A (p.Cys324Tyr) c.833G>A (p.Cys278Tyr) | |
| 3 | g.24127718A>C | CA351888949 | THRB | c.925T>G (p.Cys309Gly) c.*1554T>G (n.*1554T>G) c.970T>G (p.Cys324Gly) c.832T>G (p.Cys278Gly) | |
| 3 | g.24127718A>G | CA351888950 | THRB | c.925T>C (p.Cys309Arg) c.*1554T>C (n.*1554T>C) c.970T>C (p.Cys324Arg) c.832T>C (p.Cys278Arg) | |
| 3 | g.24127718A>T | CA351888951 | THRB | c.925T>A (p.Cys309Ser) c.*1554T>A (n.*1554T>A) c.970T>A (p.Cys324Ser) c.832T>A (p.Cys278Ser) | |
| 3 | g.24127719G>A | CA432916316 | THRB | c.924C>T (p.Cys308=) c.*1553C>T (n.*1553C>T) c.969C>T (p.Cys323=) c.831C>T (p.Cys277=) | |
| 3 | g.24127719G>C | CA351888952 | THRB | c.924C>G (p.Cys308Trp) c.*1553C>G (n.*1553C>G) c.969C>G (p.Cys323Trp) c.831C>G (p.Cys277Trp) | |
| 3 | g.24127719G>T | CA351888953 | THRB | c.924C>A (p.Cys308Ter) c.*1553C>A (n.*1553C>A) c.969C>A (p.Cys323Ter) c.831C>A (p.Cys277Ter) | |
| 3 | g.24127720C>A | CA351888956 | THRB | c.923G>T (p.Cys308Phe) c.*1552G>T (n.*1552G>T) c.968G>T (p.Cys323Phe) c.830G>T (p.Cys277Phe) | |
| 3 | g.24127720C>G | CA351888955 | THRB | c.923G>C (p.Cys308Ser) c.*1552G>C (n.*1552G>C) c.968G>C (p.Cys323Ser) c.830G>C (p.Cys277Ser) | |
| 3 | g.24127720C>T | CA351888954 | THRB | c.923G>A (p.Cys308Tyr) c.*1552G>A (n.*1552G>A) c.968G>A (p.Cys323Tyr) c.830G>A (p.Cys277Tyr) | |
| 3 | g.24127721A>C | CA351888957 | THRB | c.922T>G (p.Cys308Gly) c.*1551T>G (n.*1551T>G) c.967T>G (p.Cys323Gly) c.829T>G (p.Cys277Gly) | |
| 3 | g.24127721A>G | CA351888958 | THRB | c.922T>C (p.Cys308Arg) c.*1551T>C (n.*1551T>C) c.967T>C (p.Cys323Arg) c.829T>C (p.Cys277Arg) | |
| 3 | g.24127721A>T | CA351888959 | THRB | c.922T>A (p.Cys308Ser) c.*1551T>A (n.*1551T>A) c.967T>A (p.Cys323Ser) c.829T>A (p.Cys277Ser) | |
| 3 | g.24127722G>A | CA432916319 | THRB | c.921C>T (p.Gly307=) c.*1550C>T (n.*1550C>T) c.966C>T (p.Gly322=) c.828C>T (p.Gly276=) | |
| 3 | g.24127722G>C | CA432916322 | THRB | c.921C>G (p.Gly307=) c.*1550C>G (n.*1550C>G) c.966C>G (p.Gly322=) c.828C>G (p.Gly276=) | |
| 3 | g.24127722G>T | CA432916321 | THRB | c.921C>A (p.Gly307=) c.*1550C>A (n.*1550C>A) c.966C>A (p.Gly322=) c.828C>A (p.Gly276=) | |
| 3 | g.24127723C>A | CA351888960 | THRB | c.920G>T (p.Gly307Val) c.*1549G>T (n.*1549G>T) c.965G>T (p.Gly322Val) c.827G>T (p.Gly276Val) | |
| 3 | g.24127723C= | CA1351825382 | THRB | c.920G= (p.Gly307=) c.*1549G= (n.*1549G=) c.965G= (p.Gly322=) c.827G= (p.Gly276=) | |
| 3 | g.24127723C>G | CA351888961 | THRB | c.920G>C (p.Gly307Ala) c.*1549G>C (n.*1549G>C) c.965G>C (p.Gly322Ala) c.827G>C (p.Gly276Ala) | |
| 3 | g.24127723C>T | CA351888962 | THRB | c.920G>A (p.Gly307Asp) c.*1549G>A (n.*1549G>A) c.965G>A (p.Gly322Asp) c.827G>A (p.Gly276Asp) | ClinVar dbSNP |
| 3 | g.24127724C>A | CA351888965 | THRB | c.919G>T (p.Gly307Cys) c.*1548G>T (n.*1548G>T) c.964G>T (p.Gly322Cys) c.826G>T (p.Gly276Cys) | |
| 3 | g.24127724C>G | CA351888964 | THRB | c.919G>C (p.Gly307Arg) c.*1548G>C (n.*1548G>C) c.964G>C (p.Gly322Arg) c.826G>C (p.Gly276Arg) | |
| 3 | g.24127724C>T | CA351888963 | THRB | c.919G>A (p.Gly307Ser) c.*1548G>A (n.*1548G>A) c.964G>A (p.Gly322Ser) c.826G>A (p.Gly276Ser) | gnomAD v4 |
| 3 | g.24127725T>A | CA351888966 | THRB | c.918A>T (p.Lys306Asn) c.*1547A>T (n.*1547A>T) c.963A>T (p.Lys321Asn) c.825A>T (p.Lys275Asn) | |
| 3 | g.24127725T>C | CA432916324 | THRB | c.918A>G (p.Lys306=) c.*1547A>G (n.*1547A>G) c.963A>G (p.Lys321=) c.825A>G (p.Lys275=) | |
| 3 | g.24127725T>G | CA351888967 | THRB | c.918A>C (p.Lys306Asn) c.*1547A>C (n.*1547A>C) c.963A>C (p.Lys321Asn) c.825A>C (p.Lys275Asn) | |
| 3 | g.24127726T>A | CA351888968 | THRB | c.917A>T (p.Lys306Ile) c.*1546A>T (n.*1546A>T) c.962A>T (p.Lys321Ile) c.824A>T (p.Lys275Ile) | |
| 3 | g.24127726T>C | CA351888969 | THRB | c.917A>G (p.Lys306Arg) c.*1546A>G (n.*1546A>G) c.962A>G (p.Lys321Arg) c.824A>G (p.Lys275Arg) | |
| 3 | g.24127726T>G | CA351888970 | THRB | c.917A>C (p.Lys306Thr) c.*1546A>C (n.*1546A>C) c.962A>C (p.Lys321Thr) c.824A>C (p.Lys275Thr) | ClinVar dbSNP |
| 3 | g.24127727T>A | CA351888971 | THRB | c.916A>T (p.Lys306Ter) c.*1545A>T (n.*1545A>T) c.961A>T (p.Lys321Ter) c.823A>T (p.Lys275Ter) | |
| 3 | g.24127727T>C | CA351888972 | THRB | c.916A>G (p.Lys306Glu) c.*1545A>G (n.*1545A>G) c.961A>G (p.Lys321Glu) c.823A>G (p.Lys275Glu) | |
| 3 | g.24127727T>G | CA2287144 | THRB | c.916A>C (p.Lys306Gln) c.*1545A>C (n.*1545A>C) c.961A>C (p.Lys321Gln) c.823A>C (p.Lys275Gln) | dbSNP ExAC |
| 3 | g.24127727T= | CA1351825385 | THRB | c.916A= (p.Lys306=) c.*1545A= (n.*1545A=) c.961A= (p.Lys321=) c.823A= (p.Lys275=) | |
| 3 | g.24127728G>A | CA432916328 | THRB | c.915C>T (p.Leu305=) c.*1544C>T (n.*1544C>T) c.960C>T (p.Leu320=) c.822C>T (p.Leu274=) | |
| 3 | g.24127728G>C | CA432916329 | THRB | c.915C>G (p.Leu305=) c.*1544C>G (n.*1544C>G) c.960C>G (p.Leu320=) c.822C>G (p.Leu274=) | |
| 3 | g.24127728G>T | CA432916331 | THRB | c.915C>A (p.Leu305=) c.*1544C>A (n.*1544C>A) c.960C>A (p.Leu320=) c.822C>A (p.Leu274=) | |
| 3 | g.24127729A>C | CA351888973 | THRB | c.914T>G (p.Leu305Arg) c.*1543T>G (n.*1543T>G) c.959T>G (p.Leu320Arg) c.821T>G (p.Leu274Arg) | |
| 3 | g.24127729A>G | CA351888974 | THRB | c.914T>C (p.Leu305Pro) c.*1543T>C (n.*1543T>C) c.959T>C (p.Leu320Pro) c.821T>C (p.Leu274Pro) | |
| 3 | g.24127729A>T | CA351888975 | THRB | c.914T>A (p.Leu305His) c.*1543T>A (n.*1543T>A) c.959T>A (p.Leu320His) c.821T>A (p.Leu274His) | |
| 3 | g.24127730G>A | CA351888976 | THRB | c.913C>T (p.Leu305Phe) c.*1542C>T (n.*1542C>T) c.958C>T (p.Leu320Phe) c.820C>T (p.Leu274Phe) | |
| 3 | g.24127730G>C | CA351888977 | THRB | c.913C>G (p.Leu305Val) c.*1542C>G (n.*1542C>G) c.958C>G (p.Leu320Val) c.820C>G (p.Leu274Val) | |
| 3 | g.24127730G>T | CA351888978 | THRB | c.913C>A (p.Leu305Ile) c.*1542C>A (n.*1542C>A) c.958C>A (p.Leu320Ile) c.820C>A (p.Leu274Ile) | |
| 3 | g.24127731G>A | CA432916332 | THRB | c.912C>T (p.Leu304=) c.*1541C>T (n.*1541C>T) c.957C>T (p.Leu319=) c.819C>T (p.Leu273=) | |
| 3 | g.24127731G>C | CA432916333 | THRB | c.912C>G (p.Leu304=) c.*1541C>G (n.*1541C>G) c.957C>G (p.Leu319=) c.819C>G (p.Leu273=) | |
| 3 | g.24127731G>T | CA432916335 | THRB | c.912C>A (p.Leu304=) c.*1541C>A (n.*1541C>A) c.957C>A (p.Leu319=) c.819C>A (p.Leu273=) |