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 |
|---|---|---|---|---|---|
| 8 | g.109087564G>A | CA372040774 | TRHR | c.52G>A (p.Ala18Thr) | gnomAD v4 |
| 8 | g.109087564G>C | CA372040775 | TRHR | c.52G>C (p.Ala18Pro) | |
| 8 | g.109087564G>T | CA372040776 | TRHR | c.52G>T (p.Ala18Ser) | gnomAD v4 |
| 8 | g.109087565C>A | CA372040779 | TRHR | c.53C>A (p.Ala18Glu) | |
| 8 | g.109087565C>G | CA372040778 | TRHR | c.53C>G (p.Ala18Gly) | |
| 8 | g.109087565C>T | CA372040777 | TRHR | c.53C>T (p.Ala18Val) | |
| 8 | g.109087566A= | CA1809864562 | TRHR | c.54A= (p.Ala18=) | |
| 8 | g.109087566A>C | CA462575133 | TRHR | c.54A>C (p.Ala18=) | |
| 8 | g.109087566A>G | CA462575132 | TRHR | c.54A>G (p.Ala18=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.109087566A>T | CA4842762 | TRHR | c.54A>T (p.Ala18=) | dbSNP ExAC gnomAD v2 |
| 8 | g.109087567G>A | CA372040780 | TRHR | c.55G>A (p.Val19Met) | |
| 8 | g.109087567G>C | CA372040782 | TRHR | c.55G>C (p.Val19Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.109087567G= | CA1809864563 | TRHR | c.55G= (p.Val19=) | |
| 8 | g.109087567G>T | CA372040781 | TRHR | c.55G>T (p.Val19Leu) | |
| 8 | g.109087568T>A | CA372040783 | TRHR | c.56T>A (p.Val19Glu) | |
| 8 | g.109087568T>C | CA372040784 | TRHR | c.56T>C (p.Val19Ala) | |
| 8 | g.109087568T>G | CA183626951 | TRHR | c.56T>G (p.Val19Gly) | dbSNP |
| 8 | g.109087568T= | CA1809864564 | TRHR | c.56T= (p.Val19=) | |
| 8 | g.109087569G>A | CA462575139 | TRHR | c.57G>A (p.Val19=) | |
| 8 | g.109087569G>C | CA462575140 | TRHR | c.57G>C (p.Val19=) | |
| 8 | g.109087569G>T | CA462575141 | TRHR | c.57G>T (p.Val19=) | gnomAD v4 |
| 8 | g.109087570G>A | CA372040785 | TRHR | c.58G>A (p.Val20Met) | |
| 8 | g.109087570G>C | CA372040786 | TRHR | c.58G>C (p.Val20Leu) | |
| 8 | g.109087570G>T | CA372040787 | TRHR | c.58G>T (p.Val20Leu) | |
| 8 | g.109087571T>A | CA372040788 | TRHR | c.59T>A (p.Val20Glu) | |
| 8 | g.109087571T>C | CA4842763 | TRHR | c.59T>C (p.Val20Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.109087571T>G | CA372040789 | TRHR | c.59T>G (p.Val20Gly) | |
| 8 | g.109087571T= | CA1809864565 | TRHR | c.59T= (p.Val20=) | |
| 8 | g.109087572G>A | CA462575143 | TRHR | c.60G>A (p.Val20=) | gnomAD v4 COSMIC |
| 8 | g.109087572G>C | CA462575142 | TRHR | c.60G>C (p.Val20=) | |
| 8 | g.109087572G>T | CA462575144 | TRHR | c.60G>T (p.Val20=) | |
| 8 | g.109087573G>A | CA372040790 | TRHR | c.61G>A (p.Ala21Thr) | |
| 8 | g.109087573G>C | CA372040791 | TRHR | c.61G>C (p.Ala21Pro) | |
| 8 | g.109087573G>T | CA372040792 | TRHR | c.61G>T (p.Ala21Ser) | |
| 8 | g.109087574C>A | CA372040793 | TRHR | c.62C>A (p.Ala21Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.109087574C= | CA1809864566 | TRHR | c.62C= (p.Ala21=) | |
| 8 | g.109087574C>G | CA372040794 | TRHR | c.62C>G (p.Ala21Gly) | |
| 8 | g.109087574C>T | CA372040795 | TRHR | c.62C>T (p.Ala21Val) | gnomAD v4 |
| 8 | g.109087575C>A | CA462575145 | TRHR | c.63C>A (p.Ala21=) | |
| 8 | g.109087575C>G | CA462575146 | TRHR | c.63C>G (p.Ala21=) | |
| 8 | g.109087575C>T | CA462575147 | TRHR | c.63C>T (p.Ala21=) | |
| 8 | g.109087576T>A | CA372040796 | TRHR | c.64T>A (p.Leu22Ile) | |
| 8 | g.109087576T>C | CA462575148 | TRHR | c.64T>C (p.Leu22=) | |
| 8 | g.109087576T>G | CA372040797 | TRHR | c.64T>G (p.Leu22Val) | |
| 8 | g.109087577T>A | CA372040798 | TRHR | c.65T>A (p.Leu22Ter) | |
| 8 | g.109087577T>C | CA372040799 | TRHR | c.65T>C (p.Leu22Ser) | dbSNP |
| 8 | g.109087577T>G | CA372040800 | TRHR | c.65T>G (p.Leu22Ter) | |
| 8 | g.109087577T= | CA1809864567 | TRHR | c.65T= (p.Leu22=) | |
| 8 | g.109087578A>C | CA372040801 | TRHR | c.66A>C (p.Leu22Phe) | |
| 8 | g.109087578A>G | CA462575149 | TRHR | c.66A>G (p.Leu22=) | |
| 8 | g.109087578A>T | CA372040802 | TRHR | c.66A>T (p.Leu22Phe) | |
| 8 | g.109087579G>A | CA372040803 | TRHR | c.67G>A (p.Glu23Lys) | COSMIC |
| 8 | g.109087579G>C | CA372040804 | TRHR | c.67G>C (p.Glu23Gln) | |
| 8 | g.109087579G= | CA1809864568 | TRHR | c.67G= (p.Glu23=) | |
| 8 | g.109087579G>T | CA372040805 | TRHR | c.67G>T (p.Glu23Ter) | dbSNP gnomAD v2 |
| 8 | g.109087580A>C | CA372040806 | TRHR | c.68A>C (p.Glu23Ala) | |
| 8 | g.109087580A>G | CA372040807 | TRHR | c.68A>G (p.Glu23Gly) | |
| 8 | g.109087580A>T | CA372040808 | TRHR | c.68A>T (p.Glu23Val) | |
| 8 | g.109087581A>C | CA372040810 | TRHR | c.69A>C (p.Glu23Asp) | |
| 8 | g.109087581A>G | CA462575150 | TRHR | c.69A>G (p.Glu23=) | |
| 8 | g.109087581A>T | CA372040809 | TRHR | c.69A>T (p.Glu23Asp) | |
| 8 | g.109087582T>A | CA372040811 | TRHR | c.70T>A (p.Tyr24Asn) | |
| 8 | g.109087582T>C | CA372040812 | TRHR | c.70T>C (p.Tyr24His) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.109087582T>G | CA372040813 | TRHR | c.70T>G (p.Tyr24Asp) | |
| 8 | g.109087582T= | CA1809864569 | TRHR | c.70T= (p.Tyr24=) | |
| 8 | g.109087583A>C | CA372040814 | TRHR | c.71A>C (p.Tyr24Ser) | |
| 8 | g.109087583A>G | CA372040815 | TRHR | c.71A>G (p.Tyr24Cys) | |
| 8 | g.109087583A>T | CA372040816 | TRHR | c.71A>T (p.Tyr24Phe) | |
| 8 | g.109087584C>A | CA372040817 | TRHR | c.72C>A (p.Tyr24Ter) | |
| 8 | g.109087584C>G | CA372040818 | TRHR | c.72C>G (p.Tyr24Ter) | gnomAD v4 |
| 8 | g.109087584C>T | CA462575151 | TRHR | c.72C>T (p.Tyr24=) | |
| 8 | g.109087585C>A | CA372040819 | TRHR | c.73C>A (p.Gln25Lys) | gnomAD v4 |
| 8 | g.109087585C= | CA1809864570 | TRHR | c.73C= (p.Gln25=) | |
| 8 | g.109087585C>G | CA4842764 | TRHR | c.73C>G (p.Gln25Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.109087585C>T | CA372040820 | TRHR | c.73C>T (p.Gln25Ter) | |
| 8 | g.109087586A>C | CA372040821 | TRHR | c.74A>C (p.Gln25Pro) | |
| 8 | g.109087586A>G | CA372040822 | TRHR | c.74A>G (p.Gln25Arg) | |
| 8 | g.109087586A>T | CA372040823 | TRHR | c.74A>T (p.Gln25Leu) | |
| 8 | g.109087587G>A | CA462575152 | TRHR | c.75G>A (p.Gln25=) | gnomAD v4 |
| 8 | g.109087587G>C | CA372040824 | TRHR | c.75G>C (p.Gln25His) | |
| 8 | g.109087587G= | CA1809864571 | TRHR | c.75G= (p.Gln25=) | |
| 8 | g.109087587G>T | CA372040825 | TRHR | c.75G>T (p.Gln25His) | dbSNP |
| 8 | g.109087588dup | CA2688233061 | TRHR | c.76dup (p.Val26GlyfsTer?) | gnomAD v4 |
| 8 | g.109087588G>A | CA372040826 | TRHR | c.76G>A (p.Val26Met) | gnomAD v4 |
| 8 | g.109087588G>C | CA372040827 | TRHR | c.76G>C (p.Val26Leu) | |
| 8 | g.109087588G>T | CA372040828 | TRHR | c.76G>T (p.Val26Leu) | |
| 8 | g.109087589T>A | CA372040829 | TRHR | c.77T>A (p.Val26Glu) | |
| 8 | g.109087589T>C | CA372040830 | TRHR | c.77T>C (p.Val26Ala) | |
| 8 | g.109087589T>G | CA372040831 | TRHR | c.77T>G (p.Val26Gly) | |
| 8 | g.109087590G>A | CA462575153 | TRHR | c.78G>A (p.Val26=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.109087590G>C | CA462575154 | TRHR | c.78G>C (p.Val26=) | |
| 8 | g.109087590G= | CA1809864572 | TRHR | c.78G= (p.Val26=) | |
| 8 | g.109087590G>T | CA462575155 | TRHR | c.78G>T (p.Val26=) | |
| 8 | g.109087591G>A | CA372040832 | TRHR | c.79G>A (p.Val27Ile) | |
| 8 | g.109087591G>C | CA372040833 | TRHR | c.79G>C (p.Val27Leu) | |
| 8 | g.109087591G>T | CA372040834 | TRHR | c.79G>T (p.Val27Phe) | |
| 8 | g.109087592T>A | CA372040835 | TRHR | c.80T>A (p.Val27Asp) | |
| 8 | g.109087592T>C | CA372040836 | TRHR | c.80T>C (p.Val27Ala) | |
| 8 | g.109087592T>G | CA372040837 | TRHR | c.80T>G (p.Val27Gly) | |
| 8 | g.109087593C>A | CA462575157 | TRHR | c.81C>A (p.Val27=) | |
| 8 | g.109087593C= | CA1809864573 | TRHR | c.81C= (p.Val27=) | |
| 8 | g.109087593C>G | CA462575156 | TRHR | c.81C>G (p.Val27=) | |
| 8 | g.109087593C>T | CA183626952 | TRHR | c.81C>T (p.Val27=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.109087594A>C | CA372040840 | TRHR | c.82A>C (p.Thr28Pro) | |
| 8 | g.109087594A>G | CA372040839 | TRHR | c.82A>G (p.Thr28Ala) | |
| 8 | g.109087594A>T | CA372040838 | TRHR | c.82A>T (p.Thr28Ser) | |
| 8 | g.109087595C>A | CA372040841 | TRHR | c.83C>A (p.Thr28Asn) | |
| 8 | g.109087595C= | CA1809864574 | TRHR | c.83C= (p.Thr28=) | |
| 8 | g.109087595C>G | CA372040843 | TRHR | c.83C>G (p.Thr28Ser) | |
| 8 | g.109087595C>T | CA372040842 | TRHR | c.83C>T (p.Thr28Ile) | dbSNP |
| 8 | g.109087596C>A | CA462575158 | TRHR | c.84C>A (p.Thr28=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.109087596C= | CA1809864575 | TRHR | c.84C= (p.Thr28=) | |
| 8 | g.109087596C>G | CA462575159 | TRHR | c.84C>G (p.Thr28=) | |
| 8 | g.109087596C>T | CA462575160 | TRHR | c.84C>T (p.Thr28=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.109087597A>C | CA372040844 | TRHR | c.85A>C (p.Ile29Leu) | |
| 8 | g.109087597A>G | CA372040845 | TRHR | c.85A>G (p.Ile29Val) | |
| 8 | g.109087597A>T | CA372040846 | TRHR | c.85A>T (p.Ile29Phe) | |
| 8 | g.109087597_109087604delinsATCTTACT | CA1809864576 | TRHR | c.85_92delinsATCTTACT (p.Ile29=) | |
| 8 | g.109087598T>A | CA372040847 | TRHR | c.86T>A (p.Ile29Asn) | |
| 8 | g.109087598T>C | CA372040848 | TRHR | c.86T>C (p.Ile29Thr) | |
| 8 | g.109087598T>G | CA372040849 | TRHR | c.86T>G (p.Ile29Ser) | |
| 8 | g.109087599_109087605del | CA4842765 | TRHR | c.87_93del (p.Ile29MetfsTer11) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.109087599C>A | CA462575161 | TRHR | c.87C>A (p.Ile29=) | |
| 8 | g.109087599C= | CA1809864577 | TRHR | c.87C= (p.Ile29=) | |
| 8 | g.109087599C>G | CA372040850 | TRHR | c.87C>G (p.Ile29Met) | |
| 8 | g.109087599C>T | CA462575162 | TRHR | c.87C>T (p.Ile29=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.109087600T>A | CA372040851 | TRHR | c.88T>A (p.Leu30Ile) | |
| 8 | g.109087600T>C | CA462575163 | TRHR | c.88T>C (p.Leu30=) | gnomAD v4 |
| 8 | g.109087600T>G | CA372040852 | TRHR | c.88T>G (p.Leu30Val) | |
| 8 | g.109087601T>A | CA372040853 | TRHR | c.89T>A (p.Leu30Ter) | |
| 8 | g.109087601T>C | CA372040854 | TRHR | c.89T>C (p.Leu30Ser) | |
| 8 | g.109087601T>G | CA372040855 | TRHR | c.89T>G (p.Leu30Ter) | |
| 8 | g.109087602A>C | CA372040856 | TRHR | c.90A>C (p.Leu30Phe) | |
| 8 | g.109087602A>G | CA462575164 | TRHR | c.90A>G (p.Leu30=) | |
| 8 | g.109087602A>T | CA372040857 | TRHR | c.90A>T (p.Leu30Phe) | |
| 8 | g.109087603C>A | CA372040858 | TRHR | c.91C>A (p.Leu31Ile) | |
| 8 | g.109087603C= | CA1809864578 | TRHR | c.91C= (p.Leu31=) | |
| 8 | g.109087603C>G | CA372040859 | TRHR | c.91C>G (p.Leu31Val) | |
| 8 | g.109087603C>T | CA372040860 | TRHR | c.91C>T (p.Leu31Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.109087604T>A | CA372040861 | TRHR | c.92T>A (p.Leu31His) | |
| 8 | g.109087604T>C | CA372040862 | TRHR | c.92T>C (p.Leu31Pro) | |
| 8 | g.109087604T>G | CA372040863 | TRHR | c.92T>G (p.Leu31Arg) | |
| 8 | g.109087605dup | CA2688233062 | TRHR | c.93dup (p.Val32CysfsTer?) | gnomAD v4 |
| 8 | g.109087605T>A | CA462575165 | TRHR | c.93T>A (p.Leu31=) | |
| 8 | g.109087605T>C | CA462575166 | TRHR | c.93T>C (p.Leu31=) | |
| 8 | g.109087605T>G | CA462575167 | TRHR | c.93T>G (p.Leu31=) | |
| 8 | g.109087606G>A | CA4842766 | TRHR | c.94G>A (p.Val32Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.109087606G>C | CA372040864 | TRHR | c.94G>C (p.Val32Leu) | |
| 8 | g.109087606G= | CA1809864579 | TRHR | c.94G= (p.Val32=) | |
| 8 | g.109087606G>T | CA372040865 | TRHR | c.94G>T (p.Val32Leu) | |
| 8 | g.109087607T>A | CA372040866 | TRHR | c.95T>A (p.Val32Glu) | |
| 8 | g.109087607T>C | CA372040867 | TRHR | c.95T>C (p.Val32Ala) | |
| 8 | g.109087607T>G | CA372040868 | TRHR | c.95T>G (p.Val32Gly) | |
| 8 | g.109087608A= | CA1809864580 | TRHR | c.96A= (p.Val32=) | |
| 8 | g.109087608A>C | CA183626953 | TRHR | c.96A>C (p.Val32=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.109087608A>G | CA462575168 | TRHR | c.96A>G (p.Val32=) | dbSNP |
| 8 | g.109087608A>T | CA4842767 | TRHR | c.96A>T (p.Val32=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.109087609C>A | CA372040869 | TRHR | c.97C>A (p.Leu33Ile) | |
| 8 | g.109087609C>G | CA372040870 | TRHR | c.97C>G (p.Leu33Val) | |
| 8 | g.109087609C>T | CA372040871 | TRHR | c.97C>T (p.Leu33Phe) | |
| 8 | g.109087610T>A | CA372040872 | TRHR | c.98T>A (p.Leu33His) | |
| 8 | g.109087610T>C | CA372040873 | TRHR | c.98T>C (p.Leu33Pro) | |
| 8 | g.109087610T>G | CA372040874 | TRHR | c.98T>G (p.Leu33Arg) | |
| 8 | g.109087611_109087613dup | CA2688233063 | TRHR | c.99_101dup (p.Ile34_Ile35insIle) | gnomAD v4 |
| 8 | g.109087611C>A | CA462575169 | TRHR | c.99C>A (p.Leu33=) | dbSNP |
| 8 | g.109087611C= | CA1809864581 | TRHR | c.99C= (p.Leu33=) | |
| 8 | g.109087611C>G | CA462575170 | TRHR | c.99C>G (p.Leu33=) | |
| 8 | g.109087611C>T | CA462575171 | TRHR | c.99C>T (p.Leu33=) | dbSNP gnomAD v4 COSMIC |
| 8 | g.109087612A= | CA1809864582 | TRHR | c.100A= (p.Ile34=) | |
| 8 | g.109087612A>C | CA372040875 | TRHR | c.100A>C (p.Ile34Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.109087612A>G | CA372040876 | TRHR | c.100A>G (p.Ile34Val) | gnomAD v4 |
| 8 | g.109087612A>T | CA372040877 | TRHR | c.100A>T (p.Ile34Phe) | |
| 8 | g.109087613T>A | CA372040878 | TRHR | c.101T>A (p.Ile34Asn) | |
| 8 | g.109087613T>C | CA372040879 | TRHR | c.101T>C (p.Ile34Thr) | |
| 8 | g.109087613T>G | CA372040880 | TRHR | c.101T>G (p.Ile34Ser) | |
| 8 | g.109087614T>A | CA462575173 | TRHR | c.102T>A (p.Ile34=) | |
| 8 | g.109087614T>C | CA462575172 | TRHR | c.102T>C (p.Ile34=) | |
| 8 | g.109087614T>G | CA372040881 | TRHR | c.102T>G (p.Ile34Met) | gnomAD v4 |
| 8 | g.109087615A>C | CA372040884 | TRHR | c.103A>C (p.Ile35Leu) | gnomAD v4 |
| 8 | g.109087615A>G | CA372040882 | TRHR | c.103A>G (p.Ile35Val) | |
| 8 | g.109087615A>T | CA372040883 | TRHR | c.103A>T (p.Ile35Phe) | |
| 8 | g.109087616T>A | CA372040885 | TRHR | c.104T>A (p.Ile35Asn) | |
| 8 | g.109087616T>C | CA372040886 | TRHR | c.104T>C (p.Ile35Thr) | |
| 8 | g.109087616T>G | CA372040887 | TRHR | c.104T>G (p.Ile35Ser) | |
| 8 | g.109087617T>A | CA462575174 | TRHR | c.105T>A (p.Ile35=) | |
| 8 | g.109087617T>C | CA4842768 | TRHR | c.105T>C (p.Ile35=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.109087617T>G | CA4842769 | TRHR | c.105T>G (p.Ile35Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.109087617T= | CA1809864583 | TRHR | c.105T= (p.Ile35=) | |
| 8 | g.109087618T>A | CA372040888 | TRHR | c.106T>A (p.Cys36Ser) | |
| 8 | g.109087618T>C | CA372040889 | TRHR | c.106T>C (p.Cys36Arg) | |
| 8 | g.109087618T>G | CA372040890 | TRHR | c.106T>G (p.Cys36Gly) | |
| 8 | g.109087619G>A | CA372040891 | TRHR | c.107G>A (p.Cys36Tyr) | |
| 8 | g.109087619G>C | CA372040892 | TRHR | c.107G>C (p.Cys36Ser) | |
| 8 | g.109087619G>T | CA372040893 | TRHR | c.107G>T (p.Cys36Phe) | gnomAD v4 |
| 8 | g.109087620T>A | CA372040894 | TRHR | c.108T>A (p.Cys36Ter) | |
| 8 | g.109087620T>C | CA462575175 | TRHR | c.108T>C (p.Cys36=) | |
| 8 | g.109087620T>G | CA372040895 | TRHR | c.108T>G (p.Cys36Trp) | |
| 8 | g.109087621G>A | CA4842770 | TRHR | c.109G>A (p.Gly37Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.109087621G>C | CA372040897 | TRHR | c.109G>C (p.Gly37Arg) | |
| 8 | g.109087621G= | CA1809864584 | TRHR | c.109G= (p.Gly37=) | |
| 8 | g.109087621G>T | CA372040896 | TRHR | c.109G>T (p.Gly37Cys) | |
| 8 | g.109087622G>A | CA372040898 | TRHR | c.110G>A (p.Gly37Asp) | |
| 8 | g.109087622G>C | CA372040899 | TRHR | c.110G>C (p.Gly37Ala) | |
| 8 | g.109087622G= | CA1809864585 | TRHR | c.110G= (p.Gly37=) | |
| 8 | g.109087622G>T | CA4842771 | TRHR | c.110G>T (p.Gly37Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.109087623C>A | CA462575176 | TRHR | c.111C>A (p.Gly37=) | |
| 8 | g.109087623C= | CA1809864586 | TRHR | c.111C= (p.Gly37=) | |
| 8 | g.109087623C>G | CA462575177 | TRHR | c.111C>G (p.Gly37=) | |
| 8 | g.109087623C>T | CA462575178 | TRHR | c.111C>T (p.Gly37=) | dbSNP |
| 8 | g.109087624C>A | CA372040900 | TRHR | c.112C>A (p.Leu38Met) | |
| 8 | g.109087624C>G | CA372040901 | TRHR | c.112C>G (p.Leu38Val) | |
| 8 | g.109087624C>T | CA462575179 | TRHR | c.112C>T (p.Leu38=) | |
| 8 | g.109087625T>A | CA372040902 | TRHR | c.113T>A (p.Leu38Gln) | |
| 8 | g.109087625T>C | CA372040904 | TRHR | c.113T>C (p.Leu38Pro) | |
| 8 | g.109087625T>G | CA372040903 | TRHR | c.113T>G (p.Leu38Arg) | |
| 8 | g.109087626G>A | CA462575180 | TRHR | c.114G>A (p.Leu38=) | |
| 8 | g.109087626G>C | CA462575181 | TRHR | c.114G>C (p.Leu38=) | |
| 8 | g.109087626G>T | CA462575182 | TRHR | c.114G>T (p.Leu38=) | |
| 8 | g.109087627G>A | CA372040905 | TRHR | c.115G>A (p.Gly39Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.109087627G>C | CA372040906 | TRHR | c.115G>C (p.Gly39Arg) | |
| 8 | g.109087627G= | CA1809864587 | TRHR | c.115G= (p.Gly39=) | |
| 8 | g.109087627G>T | CA372040907 | TRHR | c.115G>T (p.Gly39Cys) | |
| 8 | g.109087628G>A | CA372040908 | TRHR | c.116G>A (p.Gly39Asp) | gnomAD v4 |
| 8 | g.109087628G>C | CA372040909 | TRHR | c.116G>C (p.Gly39Ala) | |
| 8 | g.109087628G>T | CA372040910 | TRHR | c.116G>T (p.Gly39Val) | gnomAD v4 |
| 8 | g.109087629C>A | CA462575184 | TRHR | c.117C>A (p.Gly39=) | |
| 8 | g.109087629C= | CA1809864588 | TRHR | c.117C= (p.Gly39=) | |
| 8 | g.109087629C>G | CA462575183 | TRHR | c.117C>G (p.Gly39=) | |
| 8 | g.109087629C>T | CA183626954 | TRHR | c.117C>T (p.Gly39=) | dbSNP |
| 8 | g.109087630A>C | CA372040911 | TRHR | c.118A>C (p.Ile40Leu) | |
| 8 | g.109087630A>G | CA372040912 | TRHR | c.118A>G (p.Ile40Val) | |
| 8 | g.109087630A>T | CA372040913 | TRHR | c.118A>T (p.Ile40Phe) | |
| 8 | g.109087631T>A | CA372040914 | TRHR | c.119T>A (p.Ile40Asn) | |
| 8 | g.109087631T>C | CA372040915 | TRHR | c.119T>C (p.Ile40Thr) | |
| 8 | g.109087631T>G | CA372040916 | TRHR | c.119T>G (p.Ile40Ser) | |
| 8 | g.109087632T>A | CA462575185 | TRHR | c.120T>A (p.Ile40=) | dbSNP |
| 8 | g.109087632T>C | CA4842772 | TRHR | c.120T>C (p.Ile40=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.109087632T>G | CA372040917 | TRHR | c.120T>G (p.Ile40Met) | |
| 8 | g.109087632T= | CA1809864589 | TRHR | c.120T= (p.Ile40=) | |
| 8 | g.109087633G>A | CA372040918 | TRHR | c.121G>A (p.Val41Ile) | |
| 8 | g.109087633G>C | CA372040919 | TRHR | c.121G>C (p.Val41Leu) | |
| 8 | g.109087633G>T | CA372040920 | TRHR | c.121G>T (p.Val41Leu) | |
| 8 | g.109087634T>A | CA372040921 | TRHR | c.122T>A (p.Val41Glu) | |
| 8 | g.109087634T>C | CA372040922 | TRHR | c.122T>C (p.Val41Ala) | |
| 8 | g.109087634T>G | CA372040923 | TRHR | c.122T>G (p.Val41Gly) | |
| 8 | g.109087635A= | CA1809864590 | TRHR | c.123A= (p.Val41=) | |
| 8 | g.109087635A>C | CA462575186 | TRHR | c.123A>C (p.Val41=) | dbSNP gnomAD v2 |
| 8 | g.109087635A>G | CA4842773 | TRHR | c.123A>G (p.Val41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.109087635A>T | CA462575187 | TRHR | c.123A>T (p.Val41=) | gnomAD v4 |
| 8 | g.109087636G>A | CA372040924 | TRHR | c.124G>A (p.Gly42Ser) | dbSNP |
| 8 | g.109087636G>C | CA372040925 | TRHR | c.124G>C (p.Gly42Arg) | COSMIC |
| 8 | g.109087636G= | CA1809864591 | TRHR | c.124G= (p.Gly42=) | |
| 8 | g.109087636G>T | CA372040926 | TRHR | c.124G>T (p.Gly42Cys) | |
| 8 | g.109087637G>A | CA4842774 | TRHR | c.125G>A (p.Gly42Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.109087637G>C | CA372040927 | TRHR | c.125G>C (p.Gly42Ala) | |
| 8 | g.109087637G= | CA1809864592 | TRHR | c.125G= (p.Gly42=) | |
| 8 | g.109087637G>T | CA183626955 | TRHR | c.125G>T (p.Gly42Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.109087638C>A | CA462575188 | TRHR | c.126C>A (p.Gly42=) | gnomAD v4 COSMIC |
| 8 | g.109087638C>G | CA462575189 | TRHR | c.126C>G (p.Gly42=) | |
| 8 | g.109087638C>T | CA462575190 | TRHR | c.126C>T (p.Gly42=) | gnomAD v4 |
| 8 | g.109087639A>C | CA372040928 | TRHR | c.127A>C (p.Asn43His) | |
| 8 | g.109087639A>G | CA372040929 | TRHR | c.127A>G (p.Asn43Asp) | |
| 8 | g.109087639A>T | CA372040930 | TRHR | c.127A>T (p.Asn43Tyr) | |
| 8 | g.109087640A= | CA1809864593 | TRHR | c.128A= (p.Asn43=) | |
| 8 | g.109087640A>C | CA372040931 | TRHR | c.128A>C (p.Asn43Thr) | |
| 8 | g.109087640A>G | CA183626956 | TRHR | c.128A>G (p.Asn43Ser) | dbSNP |
| 8 | g.109087640A>T | CA372040932 | TRHR | c.128A>T (p.Asn43Ile) | |
| 8 | g.109087641C>A | CA372040933 | TRHR | c.129C>A (p.Asn43Lys) | |
| 8 | g.109087641C= | CA1809864594 | TRHR | c.129C= (p.Asn43=) | |
| 8 | g.109087641C>G | CA372040934 | TRHR | c.129C>G (p.Asn43Lys) | COSMIC |
| 8 | g.109087641C>T | CA462575191 | TRHR | c.129C>T (p.Asn43=) | dbSNP gnomAD v4 |
| 8 | g.109087644_109087646del | CA2579227956 | TRHR | c.132_134del (p.Ile44del) | gnomAD v4 |
| 8 | g.109087642A= | CA1809864595 | TRHR | c.130A= (p.Ile44=) | |
| 8 | g.109087642A>C | CA4842775 | TRHR | c.130A>C (p.Ile44Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.109087642A>G | CA372040935 | TRHR | c.130A>G (p.Ile44Val) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.109087642A>T | CA372040936 | TRHR | c.130A>T (p.Ile44Phe) | gnomAD v4 |
| 8 | g.109087643T>A | CA372040937 | TRHR | c.131T>A (p.Ile44Asn) | |
| 8 | g.109087643T>C | CA372040938 | TRHR | c.131T>C (p.Ile44Thr) | |
| 8 | g.109087643T>G | CA372040939 | TRHR | c.131T>G (p.Ile44Ser) | |
| 8 | g.109087644C>A | CA462575192 | TRHR | c.132C>A (p.Ile44=) | |
| 8 | g.109087644C>G | CA372040940 | TRHR | c.132C>G (p.Ile44Met) | |
| 8 | g.109087644C>T | CA462575193 | TRHR | c.132C>T (p.Ile44=) | |
| 8 | g.109087645A>C | CA372040941 | TRHR | c.133A>C (p.Met45Leu) | |
| 8 | g.109087645A>G | CA372040942 | TRHR | c.133A>G (p.Met45Val) | |
| 8 | g.109087645A>T | CA372040943 | TRHR | c.133A>T (p.Met45Leu) | |
| 8 | g.109087646T>A | CA372040944 | TRHR | c.134T>A (p.Met45Lys) | |
| 8 | g.109087646T>C | CA372040945 | TRHR | c.134T>C (p.Met45Thr) | |
| 8 | g.109087646T>G | CA372040946 | TRHR | c.134T>G (p.Met45Arg) | gnomAD v4 |
| 8 | g.109087647G>A | CA372040947 | TRHR | c.135G>A (p.Met45Ile) | gnomAD v4 |
| 8 | g.109087647G>C | CA372040948 | TRHR | c.135G>C (p.Met45Ile) | |
| 8 | g.109087647G>T | CA372040949 | TRHR | c.135G>T (p.Met45Ile) | |
| 8 | g.109087648G>A | CA372040950 | TRHR | c.136G>A (p.Val46Ile) | |
| 8 | g.109087648G>C | CA372040951 | TRHR | c.136G>C (p.Val46Leu) | |
| 8 | g.109087648G>T | CA372040952 | TRHR | c.136G>T (p.Val46Leu) | dbSNP |
| 8 | g.109087649T>A | CA372040955 | TRHR | c.137T>A (p.Val46Glu) | |
| 8 | g.109087649T>C | CA372040954 | TRHR | c.137T>C (p.Val46Ala) | |
| 8 | g.109087649T>G | CA372040953 | TRHR | c.137T>G (p.Val46Gly) | |
| 8 | g.109087650A>C | CA462575194 | TRHR | c.138A>C (p.Val46=) | |
| 8 | g.109087650A>G | CA462575195 | TRHR | c.138A>G (p.Val46=) | |
| 8 | g.109087650A>T | CA462575196 | TRHR | c.138A>T (p.Val46=) | gnomAD v4 |
| 8 | g.109087651G>A | CA372040956 | TRHR | c.139G>A (p.Val47Ile) | |
| 8 | g.109087651G>C | CA4842776 | TRHR | c.139G>C (p.Val47Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.109087651G= | CA1809864596 | TRHR | c.139G= (p.Val47=) | |
| 8 | g.109087651G>T | CA372040957 | TRHR | c.139G>T (p.Val47Phe) | |
| 8 | g.109087652T>A | CA372040958 | TRHR | c.140T>A (p.Val47Asp) | |
| 8 | g.109087652T>C | CA372040959 | TRHR | c.140T>C (p.Val47Ala) | dbSNP |
| 8 | g.109087652T>G | CA372040960 | TRHR | c.140T>G (p.Val47Gly) | |
| 8 | g.109087652T= | CA1809864597 | TRHR | c.140T= (p.Val47=) | |
| 8 | g.109087653C>A | CA462575197 | TRHR | c.141C>A (p.Val47=) | |
| 8 | g.109087653C>G | CA462575198 | TRHR | c.141C>G (p.Val47=) | |
| 8 | g.109087653C>T | CA462575199 | TRHR | c.141C>T (p.Val47=) | gnomAD v4 |
| 8 | g.109087654C>A | CA372040961 | TRHR | c.142C>A (p.Leu48Met) | gnomAD v4 |
| 8 | g.109087654C>G | CA372040962 | TRHR | c.142C>G (p.Leu48Val) | |
| 8 | g.109087654C>T | CA462575200 | TRHR | c.142C>T (p.Leu48=) | |
| 8 | g.109087655T>A | CA372040963 | TRHR | c.143T>A (p.Leu48Gln) | |
| 8 | g.109087655T>C | CA372040964 | TRHR | c.143T>C (p.Leu48Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.109087655T>G | CA372040965 | TRHR | c.143T>G (p.Leu48Arg) | |
| 8 | g.109087655T= | CA1809864598 | TRHR | c.143T= (p.Leu48=) | |
| 8 | g.109087656G>A | CA462575202 | TRHR | c.144G>A (p.Leu48=) | |
| 8 | g.109087656G>C | CA462575203 | TRHR | c.144G>C (p.Leu48=) | |
| 8 | g.109087656G>T | CA462575201 | TRHR | c.144G>T (p.Leu48=) | |
| 8 | g.109087657G>A | CA372040966 | TRHR | c.145G>A (p.Val49Ile) | |
| 8 | g.109087657G>C | CA372040967 | TRHR | c.145G>C (p.Val49Leu) | |
| 8 | g.109087657G>T | CA372040968 | TRHR | c.145G>T (p.Val49Phe) | COSMIC |
| 8 | g.109087658T>A | CA372040970 | TRHR | c.146T>A (p.Val49Asp) | |
| 8 | g.109087658T>C | CA4842777 | TRHR | c.146T>C (p.Val49Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.109087658T>G | CA372040969 | TRHR | c.146T>G (p.Val49Gly) | dbSNP gnomAD v4 |
| 8 | g.109087658T= | CA1809864599 | TRHR | c.146T= (p.Val49=) | |
| 8 | g.109087659T>A | CA462575204 | TRHR | c.147T>A (p.Val49=) | |
| 8 | g.109087659T>C | CA462575206 | TRHR | c.147T>C (p.Val49=) | |
| 8 | g.109087659T>G | CA462575205 | TRHR | c.147T>G (p.Val49=) | |
| 8 | g.109087660G>A | CA372040971 | TRHR | c.148G>A (p.Val50Ile) | gnomAD v4 |
| 8 | g.109087660G>C | CA372040972 | TRHR | c.148G>C (p.Val50Leu) | |
| 8 | g.109087660G>T | CA372040973 | TRHR | c.148G>T (p.Val50Phe) | |
| 8 | g.109087661T>A | CA372040974 | TRHR | c.149T>A (p.Val50Asp) | |
| 8 | g.109087661T>C | CA372040975 | TRHR | c.149T>C (p.Val50Ala) | |
| 8 | g.109087661T>G | CA372040976 | TRHR | c.149T>G (p.Val50Gly) | |
| 8 | g.109087662C>A | CA462575207 | TRHR | c.150C>A (p.Val50=) | |
| 8 | g.109087662C>G | CA462575208 | TRHR | c.150C>G (p.Val50=) | |
| 8 | g.109087662C>T | CA462575209 | TRHR | c.150C>T (p.Val50=) | |
| 8 | g.109087663A= | CA1809864600 | TRHR | c.151A= (p.Met51=) | |
| 8 | g.109087663A>C | CA183626957 | TRHR | c.151A>C (p.Met51Leu) | ClinVar dbSNP gnomAD v4 |
| 8 | g.109087663A>G | CA372040977 | TRHR | c.151A>G (p.Met51Val) | gnomAD v4 |
| 8 | g.109087663A>T | CA372040978 | TRHR | c.151A>T (p.Met51Leu) | |
| 8 | g.109087664T>A | CA372040979 | TRHR | c.152T>A (p.Met51Lys) | gnomAD v4 |
| 8 | g.109087664T>C | CA372040980 | TRHR | c.152T>C (p.Met51Thr) | COSMIC |
| 8 | g.109087664T>G | CA4842778 | TRHR | c.152T>G (p.Met51Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.109087664T= | CA1809864601 | TRHR | c.152T= (p.Met51=) |