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 |
|---|---|---|---|---|---|
| 20 | g.23047845_23047894delinsACTTGTACTCCATCTTGGCCCTGGCGGCGCCCTGCTTCTTGCGCAGGTGG | CA2355680766 | THBD | c.1611_1660delinsCCACCTGCGCAAGAAGCAGGGCGCCGCCAGGGCCAAGATGGAGTACAAGT (p.Cys537=) | |
| 20 | g.23047847_23047895del | CA742233612 | THBD | c.1611_1659del (p.His538AlafsTer8) | dbSNP |
| 20 | g.23047872_23047897del | CA2652141635 | THBD | c.1609_1634del (p.Cys537ArgfsTer?) | gnomAD v4 |
| 20 | g.23047887G>A | CA408405164 | THBD | c.1618C>T (p.Arg540Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047887G>C | CA408405165 | THBD | c.1618C>G (p.Arg540Gly) | gnomAD v4 |
| 20 | g.23047887G= | CA2355680784 | THBD | c.1618C= (p.Arg540=) | |
| 20 | g.23047887G>T | CA408405166 | THBD | c.1618C>A (p.Arg540Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047888C>A | CA510160697 | THBD | c.1617G>T (p.Leu539=) | |
| 20 | g.23047888C= | CA2355680785 | THBD | c.1617G= (p.Leu539=) | |
| 20 | g.23047888C>G | CA510160696 | THBD | c.1617G>C (p.Leu539=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047888C>T | CA9787524 | THBD | c.1617G>A (p.Leu539=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047889A>C | CA408405167 | THBD | c.1616T>G (p.Leu539Arg) | |
| 20 | g.23047889A>G | CA408405168 | THBD | c.1616T>C (p.Leu539Pro) | gnomAD v4 |
| 20 | g.23047889A>T | CA408405169 | THBD | c.1616T>A (p.Leu539Gln) | |
| 20 | g.23047890G>A | CA510160705 | THBD | c.1615C>T (p.Leu539=) | |
| 20 | g.23047890G>C | CA408405170 | THBD | c.1615C>G (p.Leu539Val) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047890G= | CA2355680786 | THBD | c.1615C= (p.Leu539=) | |
| 20 | g.23047890G>T | CA408405171 | THBD | c.1615C>A (p.Leu539Met) | |
| 20 | g.23047891G>A | CA510160708 | THBD | c.1614C>T (p.His538=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047891G>C | CA408405172 | THBD | c.1614C>G (p.His538Gln) | gnomAD v4 |
| 20 | g.23047891G= | CA2355680787 | THBD | c.1614C= (p.His538=) | |
| 20 | g.23047891G>T | CA408405173 | THBD | c.1614C>A (p.His538Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047892_23047902dup | CA2577353596 | THBD | c.1604_1614dup (p.Leu539SerfsTer27) | |
| 20 | g.23047892T>A | CA408405174 | THBD | c.1613A>T (p.His538Leu) | gnomAD v4 |
| 20 | g.23047892T>C | CA408405176 | THBD | c.1613A>G (p.His538Arg) | |
| 20 | g.23047892T>G | CA408405175 | THBD | c.1613A>C (p.His538Pro) | |
| 20 | g.23047893G>A | CA408405177 | THBD | c.1612C>T (p.His538Tyr) | dbSNP gnomAD v4 |
| 20 | g.23047893G>C | CA408405178 | THBD | c.1612C>G (p.His538Asp) | |
| 20 | g.23047893G>T | CA408405179 | THBD | c.1612C>A (p.His538Asn) | gnomAD v4 |
| 20 | g.23047894G>A | CA510160720 | THBD | c.1611C>T (p.Cys537=) | dbSNP |
| 20 | g.23047894G>C | CA408405180 | THBD | c.1611C>G (p.Cys537Trp) | |
| 20 | g.23047894G= | CA2355680788 | THBD | c.1611C= (p.Cys537=) | |
| 20 | g.23047894G>T | CA408405181 | THBD | c.1611C>A (p.Cys537Ter) | ClinVar dbSNP |
| 20 | g.23047895C>A | CA408405182 | THBD | c.1610G>T (p.Cys537Phe) | |
| 20 | g.23047895C= | CA2355680789 | THBD | c.1610G= (p.Cys537=) | |
| 20 | g.23047895C>G | CA408405183 | THBD | c.1610G>C (p.Cys537Ser) | |
| 20 | g.23047895C>T | CA408405184 | THBD | c.1610G>A (p.Cys537Tyr) | dbSNP gnomAD v2 |
| 20 | g.23047896A>C | CA408405185 | THBD | c.1609T>G (p.Cys537Gly) | |
| 20 | g.23047896A>G | CA408405186 | THBD | c.1609T>C (p.Cys537Arg) | gnomAD v4 |
| 20 | g.23047896A>T | CA408405187 | THBD | c.1609T>A (p.Cys537Ser) | |
| 20 | g.23047897G>A | CA9787525 | THBD | c.1608C>T (p.Leu536=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047897G>C | CA510160732 | THBD | c.1608C>G (p.Leu536=) | |
| 20 | g.23047897G= | CA2355680790 | THBD | c.1608C= (p.Leu536=) | |
| 20 | g.23047897G>T | CA510160730 | THBD | c.1608C>A (p.Leu536=) | |
| 20 | g.23047898A>C | CA408405190 | THBD | c.1607T>G (p.Leu536Arg) | gnomAD v4 |
| 20 | g.23047898A>G | CA408405189 | THBD | c.1607T>C (p.Leu536Pro) | |
| 20 | g.23047898A>T | CA408405188 | THBD | c.1607T>A (p.Leu536His) | |
| 20 | g.23047899G>A | CA408405191 | THBD | c.1606C>T (p.Leu536Phe) | ClinVar dbSNP COSMIC |
| 20 | g.23047899G>C | CA408405192 | THBD | c.1606C>G (p.Leu536Val) | |
| 20 | g.23047899G= | CA2355680791 | THBD | c.1606C= (p.Leu536=) | |
| 20 | g.23047899G>T | CA408405193 | THBD | c.1606C>A (p.Leu536Ile) | |
| 20 | g.23047900G>A | CA510160735 | THBD | c.1605C>T (p.Leu535=) | ClinVar gnomAD v4 |
| 20 | g.23047900G>C | CA510160737 | THBD | c.1605C>G (p.Leu535=) | gnomAD v4 |
| 20 | g.23047900G>T | CA510160741 | THBD | c.1605C>A (p.Leu535=) | gnomAD v4 |
| 20 | g.23047901A>C | CA408405194 | THBD | c.1604T>G (p.Leu535Arg) | |
| 20 | g.23047901A>G | CA408405195 | THBD | c.1604T>C (p.Leu535Pro) | dbSNP |
| 20 | g.23047901A>T | CA408405196 | THBD | c.1604T>A (p.Leu535His) | |
| 20 | g.23047902G>A | CA408405197 | THBD | c.1603C>T (p.Leu535Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047902G>C | CA408405198 | THBD | c.1603C>G (p.Leu535Val) | |
| 20 | g.23047902G= | CA2355680792 | THBD | c.1603C= (p.Leu535=) | |
| 20 | g.23047902G>T | CA408405199 | THBD | c.1603C>A (p.Leu535Ile) | |
| 20 | g.23047903C>A | CA510160750 | THBD | c.1602G>T (p.Ala534=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047903C= | CA2355680793 | THBD | c.1602G= (p.Ala534=) | |
| 20 | g.23047903C>G | CA9787526 | THBD | c.1602G>C (p.Ala534=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047903C>T | CA510160751 | THBD | c.1602G>A (p.Ala534=) | gnomAD v4 |
| 20 | g.23047904G>A | CA313550345 | THBD | c.1601C>T (p.Ala534Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047904G>C | CA408405200 | THBD | c.1601C>G (p.Ala534Gly) | |
| 20 | g.23047904G= | CA2355680794 | THBD | c.1601C= (p.Ala534=) | |
| 20 | g.23047904G>T | CA313550349 | THBD | c.1601C>A (p.Ala534Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047905C>A | CA408405202 | THBD | c.1600G>T (p.Ala534Ser) | |
| 20 | g.23047905C>G | CA408405203 | THBD | c.1600G>C (p.Ala534Pro) | |
| 20 | g.23047905C>T | CA408405201 | THBD | c.1600G>A (p.Ala534Thr) | |
| 20 | g.23047906C>A | CA408405204 | THBD | c.1599G>T (p.Leu533Phe) | |
| 20 | g.23047906C= | CA2355680795 | THBD | c.1599G= (p.Leu533=) | |
| 20 | g.23047906C>G | CA408405205 | THBD | c.1599G>C (p.Leu533Phe) | |
| 20 | g.23047906C>T | CA510160760 | THBD | c.1599G>A (p.Leu533=) | dbSNP gnomAD v2 |
| 20 | g.23047907A>C | CA408405206 | THBD | c.1598T>G (p.Leu533Trp) | |
| 20 | g.23047907A>G | CA408405207 | THBD | c.1598T>C (p.Leu533Ser) | |
| 20 | g.23047907A>T | CA408405208 | THBD | c.1598T>A (p.Leu533Ter) | |
| 20 | g.23047908A>C | CA408405209 | THBD | c.1597T>G (p.Leu533Val) | |
| 20 | g.23047908A>G | CA510160768 | THBD | c.1597T>C (p.Leu533=) | |
| 20 | g.23047908A>T | CA408405210 | THBD | c.1597T>A (p.Leu533Met) | |
| 20 | g.23047909A>C | CA510160769 | THBD | c.1596T>G (p.Leu532=) | |
| 20 | g.23047909A>G | CA510160770 | THBD | c.1596T>C (p.Leu532=) | |
| 20 | g.23047909A>T | CA510160771 | THBD | c.1596T>A (p.Leu532=) | |
| 20 | g.23047910A>C | CA408405213 | THBD | c.1595T>G (p.Leu532Arg) | |
| 20 | g.23047910A>G | CA408405212 | THBD | c.1595T>C (p.Leu532Pro) | |
| 20 | g.23047910A>T | CA408405211 | THBD | c.1595T>A (p.Leu532His) | |
| 20 | g.23047911G>A | CA313550358 | THBD | c.1594C>T (p.Leu532Phe) | dbSNP |
| 20 | g.23047911G>C | CA313550376 | THBD | c.1594C>G (p.Leu532Val) | dbSNP |
| 20 | g.23047911G= | CA2355680796 | THBD | c.1594C= (p.Leu532=) | |
| 20 | g.23047911G>T | CA408405214 | THBD | c.1594C>A (p.Leu532Ile) | |
| 20 | g.23047912C>A | CA510160778 | THBD | c.1593G>T (p.Ala531=) | gnomAD v4 |
| 20 | g.23047912C= | CA2355680797 | THBD | c.1593G= (p.Ala531=) | |
| 20 | g.23047912C>G | CA510160779 | THBD | c.1593G>C (p.Ala531=) | |
| 20 | g.23047912C>T | CA510160780 | THBD | c.1593G>A (p.Ala531=) | dbSNP gnomAD v4 |
| 20 | g.23047913G>A | CA9787527 | THBD | c.1592C>T (p.Ala531Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047913G>C | CA408405215 | THBD | c.1592C>G (p.Ala531Gly) | dbSNP |
| 20 | g.23047913G= | CA2355680798 | THBD | c.1592C= (p.Ala531=) | |
| 20 | g.23047913G>T | CA408405216 | THBD | c.1592C>A (p.Ala531Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047914C>A | CA408405219 | THBD | c.1591G>T (p.Ala531Ser) | |
| 20 | g.23047914C>G | CA408405217 | THBD | c.1591G>C (p.Ala531Pro) | |
| 20 | g.23047914C>T | CA408405218 | THBD | c.1591G>A (p.Ala531Thr) | gnomAD v4 |
| 20 | g.23047915C>A | CA510160791 | THBD | c.1590G>T (p.Val530=) | gnomAD v4 |
| 20 | g.23047915C>G | CA510160792 | THBD | c.1590G>C (p.Val530=) | |
| 20 | g.23047915C>T | CA510160793 | THBD | c.1590G>A (p.Val530=) | gnomAD v4 |
| 20 | g.23047916A>C | CA408405220 | THBD | c.1589T>G (p.Val530Gly) | |
| 20 | g.23047916A>G | CA408405221 | THBD | c.1589T>C (p.Val530Ala) | gnomAD v4 |
| 20 | g.23047916A>T | CA408405222 | THBD | c.1589T>A (p.Val530Glu) | |
| 20 | g.23047917C>A | CA408405223 | THBD | c.1588G>T (p.Val530Leu) | |
| 20 | g.23047917C>G | CA408405224 | THBD | c.1588G>C (p.Val530Leu) | |
| 20 | g.23047917C>T | CA408405225 | THBD | c.1588G>A (p.Val530Met) | ClinVar gnomAD v4 |
| 20 | g.23047918C>A | CA510160801 | THBD | c.1587G>T (p.Val529=) | |
| 20 | g.23047918C>G | CA510160803 | THBD | c.1587G>C (p.Val529=) | ClinVar dbSNP |
| 20 | g.23047918C>T | CA510160802 | THBD | c.1587G>A (p.Val529=) | |
| 20 | g.23047919A>C | CA408405226 | THBD | c.1586T>G (p.Val529Gly) | |
| 20 | g.23047919A>G | CA408405227 | THBD | c.1586T>C (p.Val529Ala) | |
| 20 | g.23047919A>T | CA408405228 | THBD | c.1586T>A (p.Val529Glu) | |
| 20 | g.23047920C>A | CA408405229 | THBD | c.1585G>T (p.Val529Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047920C= | CA2355680799 | THBD | c.1585G= (p.Val529=) | |
| 20 | g.23047920C>G | CA408405230 | THBD | c.1585G>C (p.Val529Leu) | |
| 20 | g.23047920C>T | CA408405231 | THBD | c.1585G>A (p.Val529Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047921C>A | CA510160809 | THBD | c.1584G>T (p.Leu528=) | gnomAD v4 |
| 20 | g.23047921C>G | CA510160814 | THBD | c.1584G>C (p.Leu528=) | |
| 20 | g.23047921C>T | CA510160816 | THBD | c.1584G>A (p.Leu528=) | ClinVar |
| 20 | g.23047922A= | CA2355680800 | THBD | c.1583T= (p.Leu528=) | |
| 20 | g.23047922A>C | CA408405232 | THBD | c.1583T>G (p.Leu528Arg) | |
| 20 | g.23047922A>G | CA408405234 | THBD | c.1583T>C (p.Leu528Pro) | dbSNP |
| 20 | g.23047922A>T | CA408405233 | THBD | c.1583T>A (p.Leu528Gln) | |
| 20 | g.23047923G>A | CA510160824 | THBD | c.1582C>T (p.Leu528=) | ClinVar gnomAD v4 |
| 20 | g.23047923G>C | CA408405235 | THBD | c.1582C>G (p.Leu528Val) | |
| 20 | g.23047923G>T | CA408405236 | THBD | c.1582C>A (p.Leu528Met) | |
| 20 | g.23047924G>A | CA510160825 | THBD | c.1581C>T (p.Cys527=) | |
| 20 | g.23047924G>C | CA408405237 | THBD | c.1581C>G (p.Cys527Trp) | |
| 20 | g.23047924G>T | CA408405238 | THBD | c.1581C>A (p.Cys527Ter) | gnomAD v4 |
| 20 | g.23047925C>A | CA313550385 | THBD | c.1580G>T (p.Cys527Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047925C= | CA2355680801 | THBD | c.1580G= (p.Cys527=) | |
| 20 | g.23047925C>G | CA408405239 | THBD | c.1580G>C (p.Cys527Ser) | |
| 20 | g.23047925C>T | CA408405240 | THBD | c.1580G>A (p.Cys527Tyr) | gnomAD v4 |
| 20 | g.23047926A>C | CA408405241 | THBD | c.1579T>G (p.Cys527Gly) | |
| 20 | g.23047926A>G | CA408405242 | THBD | c.1579T>C (p.Cys527Arg) | |
| 20 | g.23047926A>T | CA408405243 | THBD | c.1579T>A (p.Cys527Ser) | |
| 20 | g.23047927C>A | CA510160833 | THBD | c.1578G>T (p.Leu526=) | |
| 20 | g.23047927C= | CA2355680802 | THBD | c.1578G= (p.Leu526=) | |
| 20 | g.23047927C>G | CA510160834 | THBD | c.1578G>C (p.Leu526=) | |
| 20 | g.23047927C>T | CA510160835 | THBD | c.1578G>A (p.Leu526=) | dbSNP gnomAD v4 |
| 20 | g.23047928A= | CA2355680803 | THBD | c.1577T= (p.Leu526=) | |
| 20 | g.23047928A>C | CA408405244 | THBD | c.1577T>G (p.Leu526Arg) | |
| 20 | g.23047928A>G | CA408405245 | THBD | c.1577T>C (p.Leu526Pro) | ClinVar dbSNP gnomAD v4 |
| 20 | g.23047928A>T | CA408405246 | THBD | c.1577T>A (p.Leu526Gln) | gnomAD v4 |
| 20 | g.23047929G>A | CA510160839 | THBD | c.1576C>T (p.Leu526=) | |
| 20 | g.23047929G>C | CA408405247 | THBD | c.1576C>G (p.Leu526Val) | |
| 20 | g.23047929G>T | CA408405248 | THBD | c.1576C>A (p.Leu526Met) | gnomAD v4 |
| 20 | g.23047930G>A | CA510160844 | THBD | c.1575C>T (p.Ser525=) | |
| 20 | g.23047930G>C | CA408405249 | THBD | c.1575C>G (p.Ser525Arg) | |
| 20 | g.23047930G>T | CA408405250 | THBD | c.1575C>A (p.Ser525Arg) | |
| 20 | g.23047931C>A | CA408405251 | THBD | c.1574G>T (p.Ser525Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047931C= | CA2355680804 | THBD | c.1574G= (p.Ser525=) | |
| 20 | g.23047931C>G | CA408405252 | THBD | c.1574G>C (p.Ser525Thr) | |
| 20 | g.23047931C>T | CA408405253 | THBD | c.1574G>A (p.Ser525Asn) | gnomAD v4 |
| 20 | g.23047932T>A | CA408405254 | THBD | c.1573A>T (p.Ser525Cys) | |
| 20 | g.23047932T>C | CA408405255 | THBD | c.1573A>G (p.Ser525Gly) | |
| 20 | g.23047932T>G | CA408405256 | THBD | c.1573A>C (p.Ser525Arg) | |
| 20 | g.23047933C>A | CA510160852 | THBD | c.1572G>T (p.Ala524=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047933C= | CA2355680805 | THBD | c.1572G= (p.Ala524=) | |
| 20 | g.23047933C>G | CA510160853 | THBD | c.1572G>C (p.Ala524=) | |
| 20 | g.23047933C>T | CA510160859 | THBD | c.1572G>A (p.Ala524=) | |
| 20 | g.23047934G>A | CA408405257 | THBD | c.1571C>T (p.Ala524Val) | |
| 20 | g.23047934G>C | CA408405258 | THBD | c.1571C>G (p.Ala524Gly) | gnomAD v4 |
| 20 | g.23047934G>T | CA408405259 | THBD | c.1571C>A (p.Ala524Glu) | gnomAD v4 |
| 20 | g.23047935C>A | CA408405261 | THBD | c.1570G>T (p.Ala524Ser) | gnomAD v4 |
| 20 | g.23047935C= | CA2355680806 | THBD | c.1570G= (p.Ala524=) | |
| 20 | g.23047935C>G | CA408405262 | THBD | c.1570G>C (p.Ala524Pro) | |
| 20 | g.23047935C>T | CA408405260 | THBD | c.1570G>A (p.Ala524Thr) | dbSNP gnomAD v2 |
| 20 | g.23047936G>A | CA510160864 | THBD | c.1569C>T (p.Ile523=) | gnomAD v4 |
| 20 | g.23047936G>C | CA408405263 | THBD | c.1569C>G (p.Ile523Met) | |
| 20 | g.23047936G>T | CA510160865 | THBD | c.1569C>A (p.Ile523=) | |
| 20 | g.23047937A= | CA2355680807 | THBD | c.1568T= (p.Ile523=) | |
| 20 | g.23047937A>C | CA408405264 | THBD | c.1568T>G (p.Ile523Ser) | |
| 20 | g.23047937A>G | CA408405265 | THBD | c.1568T>C (p.Ile523Thr) | dbSNP gnomAD v4 |
| 20 | g.23047937A>T | CA408405266 | THBD | c.1568T>A (p.Ile523Asn) | |
| 20 | g.23047938T>A | CA408405267 | THBD | c.1567A>T (p.Ile523Phe) | |
| 20 | g.23047938T>C | CA408405268 | THBD | c.1567A>G (p.Ile523Val) | gnomAD v4 |
| 20 | g.23047938T>G | CA408405269 | THBD | c.1567A>C (p.Ile523Leu) | |
| 20 | g.23047939G>A | CA510160872 | THBD | c.1566C>T (p.Ser522=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047939G>C | CA510160873 | THBD | c.1566C>G (p.Ser522=) | |
| 20 | g.23047939G= | CA2355680808 | THBD | c.1566C= (p.Ser522=) | |
| 20 | g.23047939G>T | CA510160874 | THBD | c.1566C>A (p.Ser522=) | |
| 20 | g.23047940G>A | CA408405270 | THBD | c.1565C>T (p.Ser522Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.23047940G>C | CA408405272 | THBD | c.1565C>G (p.Ser522Cys) | |
| 20 | g.23047940G= | CA2355680809 | THBD | c.1565C= (p.Ser522=) | |
| 20 | g.23047940G>T | CA408405271 | THBD | c.1565C>A (p.Ser522Tyr) | gnomAD v4 |
| 20 | g.23047941A>C | CA408405273 | THBD | c.1564T>G (p.Ser522Ala) | |
| 20 | g.23047941A>G | CA408405274 | THBD | c.1564T>C (p.Ser522Pro) | |
| 20 | g.23047941A>T | CA408405275 | THBD | c.1564T>A (p.Ser522Thr) | |
| 20 | g.23047942G>A | CA510160884 | THBD | c.1563C>T (p.Ile521=) | gnomAD v4 |
| 20 | g.23047942G>C | CA408405276 | THBD | c.1563C>G (p.Ile521Met) | |
| 20 | g.23047942G>T | CA510160886 | THBD | c.1563C>A (p.Ile521=) | |
| 20 | g.23047943A>C | CA408405279 | THBD | c.1562T>G (p.Ile521Ser) | |
| 20 | g.23047943A>G | CA408405277 | THBD | c.1562T>C (p.Ile521Thr) | |
| 20 | g.23047943A>T | CA408405278 | THBD | c.1562T>A (p.Ile521Asn) | |
| 20 | g.23047944T>A | CA408405280 | THBD | c.1561A>T (p.Ile521Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047944T>C | CA408405281 | THBD | c.1561A>G (p.Ile521Val) | |
| 20 | g.23047944T>G | CA408405282 | THBD | c.1561A>C (p.Ile521Leu) | |
| 20 | g.23047944T= | CA2355680810 | THBD | c.1561A= (p.Ile521=) | |
| 20 | g.23047945G>A | CA510160892 | THBD | c.1560C>T (p.Gly520=) | |
| 20 | g.23047945G>C | CA510160893 | THBD | c.1560C>G (p.Gly520=) | dbSNP gnomAD v2 |
| 20 | g.23047945G= | CA2355680811 | THBD | c.1560C= (p.Gly520=) | |
| 20 | g.23047945G>T | CA510160894 | THBD | c.1560C>A (p.Gly520=) | dbSNP gnomAD v4 |
| 20 | g.23047946C>A | CA408405283 | THBD | c.1559G>T (p.Gly520Val) | |
| 20 | g.23047946C>G | CA408405284 | THBD | c.1559G>C (p.Gly520Ala) | |
| 20 | g.23047946C>T | CA408405285 | THBD | c.1559G>A (p.Gly520Asp) | |
| 20 | g.23047947C>A | CA408405286 | THBD | c.1558G>T (p.Gly520Cys) | gnomAD v4 |
| 20 | g.23047947C= | CA2355680812 | THBD | c.1558G= (p.Gly520=) | |
| 20 | g.23047947C>G | CA408405287 | THBD | c.1558G>C (p.Gly520Arg) | |
| 20 | g.23047947C>T | CA408405288 | THBD | c.1558G>A (p.Gly520Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047948T>A | CA510160908 | THBD | c.1557A>T (p.Ile519=) | |
| 20 | g.23047948T>C | CA9787528 | THBD | c.1557A>G (p.Ile519Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047948T>G | CA510160906 | THBD | c.1557A>C (p.Ile519=) | gnomAD v4 |
| 20 | g.23047948T= | CA2355680813 | THBD | c.1557A= (p.Ile519=) | |
| 20 | g.23047949A= | CA2355680814 | THBD | c.1556T= (p.Ile519=) | |
| 20 | g.23047949A>C | CA408405289 | THBD | c.1556T>G (p.Ile519Arg) | |
| 20 | g.23047949A>G | CA408405290 | THBD | c.1556T>C (p.Ile519Thr) | ClinVar dbSNP gnomAD v4 |
| 20 | g.23047949A>T | CA408405291 | THBD | c.1556T>A (p.Ile519Lys) | |
| 20 | g.23047950T>A | CA408405292 | THBD | c.1555A>T (p.Ile519Leu) | |
| 20 | g.23047950T>C | CA408405294 | THBD | c.1555A>G (p.Ile519Val) | gnomAD v4 |
| 20 | g.23047950T>G | CA408405293 | THBD | c.1555A>C (p.Ile519Leu) | |
| 20 | g.23047951G>A | CA510160922 | THBD | c.1554C>T (p.Leu518=) | |
| 20 | g.23047951G>C | CA510160917 | THBD | c.1554C>G (p.Leu518=) | |
| 20 | g.23047951G>T | CA510160921 | THBD | c.1554C>A (p.Leu518=) | |
| 20 | g.23047952A= | CA2355680815 | THBD | c.1553T= (p.Leu518=) | |
| 20 | g.23047952A>C | CA408405295 | THBD | c.1553T>G (p.Leu518Arg) | |
| 20 | g.23047952A>G | CA408405296 | THBD | c.1553T>C (p.Leu518Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047952A>T | CA408405297 | THBD | c.1553T>A (p.Leu518His) | |
| 20 | g.23047953G>A | CA408405298 | THBD | c.1552C>T (p.Leu518Phe) | gnomAD v4 |
| 20 | g.23047953G>C | CA408405299 | THBD | c.1552C>G (p.Leu518Val) | |
| 20 | g.23047953G>T | CA408405300 | THBD | c.1552C>A (p.Leu518Ile) | |
| 20 | g.23047954C>A | CA408405302 | THBD | c.1551G>T (p.Leu517Phe) | |
| 20 | g.23047954C>G | CA408405301 | THBD | c.1551G>C (p.Leu517Phe) | |
| 20 | g.23047954C>T | CA510160929 | THBD | c.1551G>A (p.Leu517=) | |
| 20 | g.23047955A>C | CA408405303 | THBD | c.1550T>G (p.Leu517Trp) | |
| 20 | g.23047955A>G | CA408405304 | THBD | c.1550T>C (p.Leu517Ser) | |
| 20 | g.23047955A>T | CA408405305 | THBD | c.1550T>A (p.Leu517Ter) | |
| 20 | g.23047956A>C | CA408405306 | THBD | c.1549T>G (p.Leu517Val) | |
| 20 | g.23047956A>G | CA510160930 | THBD | c.1549T>C (p.Leu517=) | |
| 20 | g.23047956A>T | CA408405307 | THBD | c.1549T>A (p.Leu517Met) | |
| 20 | g.23047957G>A | CA9787529 | THBD | c.1548C>T (p.Gly516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047957G>C | CA510160931 | THBD | c.1548C>G (p.Gly516=) | |
| 20 | g.23047957G= | CA2355680816 | THBD | c.1548C= (p.Gly516=) | |
| 20 | g.23047957G>T | CA510160932 | THBD | c.1548C>A (p.Gly516=) | dbSNP gnomAD v4 |
| 20 | g.23047958C>A | CA408405308 | THBD | c.1547G>T (p.Gly516Val) | gnomAD v4 |
| 20 | g.23047958C= | CA2355680817 | THBD | c.1547G= (p.Gly516=) | |
| 20 | g.23047958C>G | CA408405309 | THBD | c.1547G>C (p.Gly516Ala) | |
| 20 | g.23047958C>T | CA9787530 | THBD | c.1547G>A (p.Gly516Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047959C>A | CA408405310 | THBD | c.1546G>T (p.Gly516Cys) | |
| 20 | g.23047959C= | CA2355680818 | THBD | c.1546G= (p.Gly516=) | |
| 20 | g.23047959C>G | CA9787531 | THBD | c.1546G>C (p.Gly516Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047959C>T | CA408405311 | THBD | c.1546G>A (p.Gly516Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047960C>A | CA510160943 | THBD | c.1545G>T (p.Ser515=) | ClinVar dbSNP gnomAD v4 |
| 20 | g.23047960C= | CA2355680819 | THBD | c.1545G= (p.Ser515=) | |
| 20 | g.23047960C>G | CA510160945 | THBD | c.1545G>C (p.Ser515=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047960C>T | CA510160947 | THBD | c.1545G>A (p.Ser515=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047961G>A | CA408405312 | THBD | c.1544C>T (p.Ser515Leu) | |
| 20 | g.23047961G>C | CA408405313 | THBD | c.1544C>G (p.Ser515Trp) | gnomAD v4 |
| 20 | g.23047961G>T | CA408405314 | THBD | c.1544C>A (p.Ser515Ter) | gnomAD v4 |
| 20 | g.23047962A= | CA2355680820 | THBD | c.1543T= (p.Ser515=) | |
| 20 | g.23047962A>C | CA408405315 | THBD | c.1543T>G (p.Ser515Ala) | |
| 20 | g.23047962A>G | CA408405316 | THBD | c.1543T>C (p.Ser515Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047962A>T | CA408405317 | THBD | c.1543T>A (p.Ser515Thr) | |
| 20 | g.23047963A>C | CA408405318 | THBD | c.1542T>G (p.His514Gln) | |
| 20 | g.23047963A>G | CA510160969 | THBD | c.1542T>C (p.His514=) | gnomAD v4 |
| 20 | g.23047963A>T | CA408405319 | THBD | c.1542T>A (p.His514Gln) | |
| 20 | g.23047964T>A | CA408405320 | THBD | c.1541A>T (p.His514Leu) | |
| 20 | g.23047964T>C | CA408405322 | THBD | c.1541A>G (p.His514Arg) | |
| 20 | g.23047964T>G | CA408405321 | THBD | c.1541A>C (p.His514Pro) | |
| 20 | g.23047965G>A | CA408405323 | THBD | c.1540C>T (p.His514Tyr) | |
| 20 | g.23047965G>C | CA408405325 | THBD | c.1540C>G (p.His514Asp) | gnomAD v4 |
| 20 | g.23047965G>T | CA408405324 | THBD | c.1540C>A (p.His514Asn) | gnomAD v4 |
| 20 | g.23047966C>A | CA510160987 | THBD | c.1539G>T (p.Val513=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047966C= | CA2355680821 | THBD | c.1539G= (p.Val513=) | |
| 20 | g.23047966C>G | CA510160988 | THBD | c.1539G>C (p.Val513=) | |
| 20 | g.23047966C>T | CA510160992 | THBD | c.1539G>A (p.Val513=) | |
| 20 | g.23047967A>C | CA408405326 | THBD | c.1538T>G (p.Val513Gly) | |
| 20 | g.23047967A>G | CA408405328 | THBD | c.1538T>C (p.Val513Ala) | |
| 20 | g.23047967A>T | CA408405327 | THBD | c.1538T>A (p.Val513Glu) | |
| 20 | g.23047968C>A | CA408405329 | THBD | c.1537G>T (p.Val513Leu) | |
| 20 | g.23047968C= | CA2355680822 | THBD | c.1537G= (p.Val513=) | |
| 20 | g.23047968C>G | CA408405331 | THBD | c.1537G>C (p.Val513Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047968C>T | CA408405330 | THBD | c.1537G>A (p.Val513Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047969G>A | CA510160188 | THBD | c.1536C>T (p.Leu512=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047969G>C | CA9787532 | THBD | c.1536C>G (p.Leu512=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047969G= | CA2355680823 | THBD | c.1536C= (p.Leu512=) | |
| 20 | g.23047969G>T | CA313550408 | THBD | c.1536C>A (p.Leu512=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047970A>C | CA408405332 | THBD | c.1535T>G (p.Leu512Arg) | |
| 20 | g.23047970A>G | CA408405334 | THBD | c.1535T>C (p.Leu512Pro) | gnomAD v4 |
| 20 | g.23047970A>T | CA408405333 | THBD | c.1535T>A (p.Leu512His) | |
| 20 | g.23047971G>A | CA408405335 | THBD | c.1534C>T (p.Leu512Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047971G>C | CA9787533 | THBD | c.1534C>G (p.Leu512Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047971G= | CA2355680824 | THBD | c.1534C= (p.Leu512=) | |
| 20 | g.23047971G>T | CA408405336 | THBD | c.1534C>A (p.Leu512Ile) | |
| 20 | g.23047972C>A | CA510160192 | THBD | c.1533G>T (p.Gly511=) | dbSNP gnomAD v4 |
| 20 | g.23047972C= | CA2355680825 | THBD | c.1533G= (p.Gly511=) | |
| 20 | g.23047972C>G | CA510160191 | THBD | c.1533G>C (p.Gly511=) | |
| 20 | g.23047972C>T | CA510160190 | THBD | c.1533G>A (p.Gly511=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047973C>A | CA408405337 | THBD | c.1532G>T (p.Gly511Val) | |
| 20 | g.23047973C>G | CA408405338 | THBD | c.1532G>C (p.Gly511Ala) | |
| 20 | g.23047973C>T | CA408405339 | THBD | c.1532G>A (p.Gly511Glu) | |
| 20 | g.23047974C>A | CA408405340 | THBD | c.1531G>T (p.Gly511Trp) | |
| 20 | g.23047974C>G | CA408405341 | THBD | c.1531G>C (p.Gly511Arg) | |
| 20 | g.23047974C>T | CA408405342 | THBD | c.1531G>A (p.Gly511Arg) | gnomAD v4 |
| 20 | g.23047975C>A | CA510160196 | THBD | c.1530G>T (p.Val510=) | |
| 20 | g.23047975C= | CA2355680826 | THBD | c.1530G= (p.Val510=) | |
| 20 | g.23047975C>G | CA510160198 | THBD | c.1530G>C (p.Val510=) | dbSNP gnomAD v4 |
| 20 | g.23047975C>T | CA510160197 | THBD | c.1530G>A (p.Val510=) | dbSNP gnomAD v4 |
| 20 | g.23047976A= | CA2355680827 | THBD | c.1529T= (p.Val510=) | |
| 20 | g.23047976A>C | CA408405343 | THBD | c.1529T>G (p.Val510Gly) | |
| 20 | g.23047976A>G | CA408405344 | THBD | c.1529T>C (p.Val510Ala) | dbSNP |
| 20 | g.23047976A>T | CA408405345 | THBD | c.1529T>A (p.Val510Glu) | |
| 20 | g.23047977C>A | CA408405347 | THBD | c.1528G>T (p.Val510Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047977C= | CA2355680828 | THBD | c.1528G= (p.Val510=) | |
| 20 | g.23047977C>G | CA408405346 | THBD | c.1528G>C (p.Val510Leu) | |
| 20 | g.23047977C>T | CA10649430 | THBD | c.1528G>A (p.Val510Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047978G>A | CA510160200 | THBD | c.1527C>T (p.Ala509=) | dbSNP |
| 20 | g.23047978G>C | CA510160201 | THBD | c.1527C>G (p.Ala509=) | gnomAD v4 |
| 20 | g.23047978G= | CA2355680829 | THBD | c.1527C= (p.Ala509=) | |
| 20 | g.23047978G>T | CA9787534 | THBD | c.1527C>A (p.Ala509=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047979G>A | CA408405348 | THBD | c.1526C>T (p.Ala509Val) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047979G>C | CA408405349 | THBD | c.1526C>G (p.Ala509Gly) | |
| 20 | g.23047979G= | CA2355680830 | THBD | c.1526C= (p.Ala509=) | |
| 20 | g.23047979G>T | CA408405350 | THBD | c.1526C>A (p.Ala509Asp) | |
| 20 | g.23047980C>A | CA408405351 | THBD | c.1525G>T (p.Ala509Ser) | |
| 20 | g.23047980C= | CA2355680831 | THBD | c.1525G= (p.Ala509=) | |
| 20 | g.23047980C>G | CA408405352 | THBD | c.1525G>C (p.Ala509Pro) | |
| 20 | g.23047980C>T | CA408405353 | THBD | c.1525G>A (p.Ala509Thr) | dbSNP |
| 20 | g.23047981C>A | CA510160205 | THBD | c.1524G>T (p.Pro508=) | |
| 20 | g.23047981C= | CA2355680832 | THBD | c.1524G= (p.Pro508=) | |
| 20 | g.23047981C>G | CA510160206 | THBD | c.1524G>C (p.Pro508=) | |
| 20 | g.23047981C>T | CA510160207 | THBD | c.1524G>A (p.Pro508=) | dbSNP |
| 20 | g.23047982G>A | CA9787535 | THBD | c.1523C>T (p.Pro508Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047982G>C | CA408405354 | THBD | c.1523C>G (p.Pro508Arg) | |
| 20 | g.23047982G= | CA2355680833 | THBD | c.1523C= (p.Pro508=) | |
| 20 | g.23047982G>T | CA408405355 | THBD | c.1523C>A (p.Pro508Gln) | ClinVar gnomAD v4 |
| 20 | g.23047983G>A | CA408405357 | THBD | c.1522C>T (p.Pro508Ser) | gnomAD v4 |
| 20 | g.23047983G>C | CA408405358 | THBD | c.1522C>G (p.Pro508Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047983G= | CA2355680834 | THBD | c.1522C= (p.Pro508=) | |
| 20 | g.23047983G>T | CA408405356 | THBD | c.1522C>A (p.Pro508Thr) | |
| 20 | g.23047984A= | CA2355680835 | THBD | c.1521T= (p.Pro507=) | |
| 20 | g.23047984A>C | CA9787536 | THBD | c.1521T>G (p.Pro507=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047984A>G | CA510160208 | THBD | c.1521T>C (p.Pro507=) | |
| 20 | g.23047984A>T | CA510160209 | THBD | c.1521T>A (p.Pro507=) | |
| 20 | g.23047985G>A | CA408405359 | THBD | c.1520C>T (p.Pro507Leu) | dbSNP gnomAD v2 |
| 20 | g.23047985G>C | CA408405360 | THBD | c.1520C>G (p.Pro507Arg) | |
| 20 | g.23047985G= | CA2355680836 | THBD | c.1520C= (p.Pro507=) | |
| 20 | g.23047985G>T | CA408405361 | THBD | c.1520C>A (p.Pro507His) | |
| 20 | g.23047986G>A | CA9787537 | THBD | c.1519C>T (p.Pro507Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047986G>C | CA408405362 | THBD | c.1519C>G (p.Pro507Ala) | |
| 20 | g.23047986G= | CA2355680837 | THBD | c.1519C= (p.Pro507=) | |
| 20 | g.23047986G>T | CA408405363 | THBD | c.1519C>A (p.Pro507Thr) | |
| 20 | g.23047987A= | CA2355680838 | THBD | c.1518T= (p.Thr506=) | |
| 20 | g.23047987A>C | CA510160212 | THBD | c.1518T>G (p.Thr506=) | |
| 20 | g.23047987A>G | CA313550446 | THBD | c.1518T>C (p.Thr506=) | dbSNP gnomAD v4 |
| 20 | g.23047987A>T | CA510160213 | THBD | c.1518T>A (p.Thr506=) |