OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.106463503_106463504del | CA2575275523 | POLR3B | c.2596_2597del (p.Ile866Ter) c.2422_2423del (p.Ile808Ter) | |
| 12 | g.106463502T>A | CA386390738 | POLR3B | c.2595T>A (p.Tyr865Ter) c.2421T>A (p.Tyr807Ter) | |
| 12 | g.106463502T>C | CA481646364 | POLR3B | c.2595T>C (p.Tyr865=) c.2421T>C (p.Tyr807=) | gnomAD v4 COSMIC |
| 12 | g.106463502T>G | CA386390736 | POLR3B | c.2595T>G (p.Tyr865Ter) c.2421T>G (p.Tyr807Ter) | |
| 12 | g.106463503A= | CA2061065504 | POLR3B | c.2596A= (p.Ile866=) c.2422A= (p.Ile808=) | |
| 12 | g.106463503A>C | CA386390741 | POLR3B | c.2596A>C (p.Ile866Leu) c.2422A>C (p.Ile808Leu) | |
| 12 | g.106463503A>G | CA6762242 | POLR3B | c.2596A>G (p.Ile866Val) c.2422A>G (p.Ile808Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.106463503A>T | CA386390744 | POLR3B | c.2596A>T (p.Ile866Phe) c.2422A>T (p.Ile808Phe) | |
| 12 | g.106463504T>A | CA386390749 | POLR3B | c.2597T>A (p.Ile866Asn) c.2423T>A (p.Ile808Asn) | |
| 12 | g.106463504T>C | CA386390752 | POLR3B | c.2597T>C (p.Ile866Thr) c.2423T>C (p.Ile808Thr) | gnomAD v4 |
| 12 | g.106463504T>G | CA386390755 | POLR3B | c.2597T>G (p.Ile866Ser) c.2423T>G (p.Ile808Ser) | |
| 12 | g.106463506_106463507insTTTTATAATCAAGTTG | CA607217217 | POLR3B | c.2599_2600insTTTTATAATCAAGTTG (p.Glu867ValfsTer3) c.2425_2426insTTTTATAATCAAGTTG (p.Glu809ValfsTer3) | dbSNP gnomAD v2 |
| 12 | g.106463505T>A | CA481646365 | POLR3B | c.2598T>A (p.Ile866=) c.2424T>A (p.Ile808=) | |
| 12 | g.106463505T>C | CA481646366 | POLR3B | c.2598T>C (p.Ile866=) c.2424T>C (p.Ile808=) | |
| 12 | g.106463505T>G | CA386390758 | POLR3B | c.2598T>G (p.Ile866Met) c.2424T>G (p.Ile808Met) | |
| 12 | g.106463506G>A | CA386390760 | POLR3B | c.2599G>A (p.Glu867Lys) c.2425G>A (p.Glu809Lys) | |
| 12 | g.106463506G>C | CA386390765 | POLR3B | c.2599G>C (p.Glu867Gln) c.2425G>C (p.Glu809Gln) | |
| 12 | g.106463506G>T | CA386390768 | POLR3B | c.2599G>T (p.Glu867Ter) c.2425G>T (p.Glu809Ter) | |
| 12 | g.106463507A>C | CA386390772 | POLR3B | c.2600A>C (p.Glu867Ala) c.2426A>C (p.Glu809Ala) | |
| 12 | g.106463507A>G | CA386390774 | POLR3B | c.2600A>G (p.Glu867Gly) c.2426A>G (p.Glu809Gly) | gnomAD v4 |
| 12 | g.106463507A>T | CA386390777 | POLR3B | c.2600A>T (p.Glu867Val) c.2426A>T (p.Glu809Val) | |
| 12 | g.106463511dup | CA645573452 | POLR3B | c.2604dup (p.Val869SerfsTer8) c.2430dup (p.Val811SerfsTer8) | COSMIC |
| 12 | g.106463508A>C | CA386390780 | POLR3B | c.2601A>C (p.Glu867Asp) c.2427A>C (p.Glu809Asp) | |
| 12 | g.106463508A>G | CA481646367 | POLR3B | c.2601A>G (p.Glu867=) c.2427A>G (p.Glu809=) | |
| 12 | g.106463508A>T | CA386390782 | POLR3B | c.2601A>T (p.Glu867Asp) c.2427A>T (p.Glu809Asp) | |
| 12 | g.106463509A>C | CA386390791 | POLR3B | c.2602A>C (p.Lys868Gln) c.2428A>C (p.Lys810Gln) | |
| 12 | g.106463509A>G | CA386390786 | POLR3B | c.2602A>G (p.Lys868Glu) c.2428A>G (p.Lys810Glu) | |
| 12 | g.106463509A>T | CA386390789 | POLR3B | c.2602A>T (p.Lys868Ter) c.2428A>T (p.Lys810Ter) | |
| 12 | g.106463510A>C | CA386390794 | POLR3B | c.2603A>C (p.Lys868Thr) c.2429A>C (p.Lys810Thr) | |
| 12 | g.106463510A>G | CA386390796 | POLR3B | c.2603A>G (p.Lys868Arg) c.2429A>G (p.Lys810Arg) | |
| 12 | g.106463510A>T | CA386390798 | POLR3B | c.2603A>T (p.Lys868Ile) c.2429A>T (p.Lys810Ile) | |
| 12 | g.106463511A>C | CA386390801 | POLR3B | c.2604A>C (p.Lys868Asn) c.2430A>C (p.Lys810Asn) | |
| 12 | g.106463511A>G | CA481646368 | POLR3B | c.2604A>G (p.Lys868=) c.2430A>G (p.Lys810=) | |
| 12 | g.106463511A>T | CA386390804 | POLR3B | c.2604A>T (p.Lys868Asn) c.2430A>T (p.Lys810Asn) | |
| 12 | g.106463512G>A | CA386390808 | POLR3B | c.2605G>A (p.Val869Met) c.2431G>A (p.Val811Met) | ClinVar |
| 12 | g.106463512G>C | CA386390810 | POLR3B | c.2605G>C (p.Val869Leu) c.2431G>C (p.Val811Leu) | gnomAD v4 |
| 12 | g.106463512G>T | CA386390813 | POLR3B | c.2605G>T (p.Val869Leu) c.2431G>T (p.Val811Leu) | |
| 12 | g.106463513T>A | CA386390817 | POLR3B | c.2606T>A (p.Val869Glu) c.2432T>A (p.Val811Glu) | |
| 12 | g.106463513T>C | CA386390820 | POLR3B | c.2606T>C (p.Val869Ala) c.2432T>C (p.Val811Ala) | dbSNP |
| 12 | g.106463513T>G | CA386390823 | POLR3B | c.2606T>G (p.Val869Gly) c.2432T>G (p.Val811Gly) | dbSNP |
| 12 | g.106463513T= | CA2061065512 | POLR3B | c.2606T= (p.Val869=) c.2432T= (p.Val811=) | |
| 12 | g.106463514G>A | CA481646369 | POLR3B | c.2607G>A (p.Val869=) c.2433G>A (p.Val811=) | |
| 12 | g.106463514G>C | CA481646370 | POLR3B | c.2607G>C (p.Val869=) c.2433G>C (p.Val811=) | |
| 12 | g.106463514G= | CA2061065515 | POLR3B | c.2607G= (p.Val869=) c.2433G= (p.Val811=) | |
| 12 | g.106463514G>T | CA481646371 | POLR3B | c.2607G>T (p.Val869=) c.2433G>T (p.Val811=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.106463515A= | CA2061065519 | POLR3B | c.2608A= (p.Met870=) c.2434A= (p.Met812=) | |
| 12 | g.106463515A>C | CA386390832 | POLR3B | c.2608A>C (p.Met870Leu) c.2434A>C (p.Met812Leu) | |
| 12 | g.106463515A>G | CA6762243 | POLR3B | c.2608A>G (p.Met870Val) c.2434A>G (p.Met812Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.106463515A>T | CA386390827 | POLR3B | c.2608A>T (p.Met870Leu) c.2434A>T (p.Met812Leu) | |
| 12 | g.106463516T>A | CA386390836 | POLR3B | c.2609T>A (p.Met870Lys) c.2435T>A (p.Met812Lys) | |
| 12 | g.106463516T>C | CA386390838 | POLR3B | c.2609T>C (p.Met870Thr) c.2435T>C (p.Met812Thr) | |
| 12 | g.106463516T>G | CA386390842 | POLR3B | c.2609T>G (p.Met870Arg) c.2435T>G (p.Met812Arg) | |
| 12 | g.106463517G>A | CA386390844 | POLR3B | c.2610G>A (p.Met870Ile) c.2436G>A (p.Met812Ile) | gnomAD v4 |
| 12 | g.106463517G>C | CA386390846 | POLR3B | c.2610G>C (p.Met870Ile) c.2436G>C (p.Met812Ile) | |
| 12 | g.106463517G>T | CA386390848 | POLR3B | c.2610G>T (p.Met870Ile) c.2436G>T (p.Met812Ile) | |
| 12 | g.106463518A= | CA2061065523 | POLR3B | c.2611A= (p.Ile871=) c.2437A= (p.Ile813=) | |
| 12 | g.106463518A>C | CA386390852 | POLR3B | c.2611A>C (p.Ile871Leu) c.2437A>C (p.Ile813Leu) | |
| 12 | g.106463518A>G | CA243210278 | POLR3B | c.2611A>G (p.Ile871Val) c.2437A>G (p.Ile813Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.106463518A>T | CA386390857 | POLR3B | c.2611A>T (p.Ile871Leu) c.2437A>T (p.Ile813Leu) | gnomAD v4 |
| 12 | g.106463519T>A | CA386390859 | POLR3B | c.2612T>A (p.Ile871Lys) c.2438T>A (p.Ile813Lys) | |
| 12 | g.106463519T>C | CA386390862 | POLR3B | c.2612T>C (p.Ile871Thr) c.2438T>C (p.Ile813Thr) | |
| 12 | g.106463519T>G | CA386390864 | POLR3B | c.2612T>G (p.Ile871Arg) c.2438T>G (p.Ile813Arg) | |
| 12 | g.106463520A= | CA2061065527 | POLR3B | c.2613A= (p.Ile871=) c.2439A= (p.Ile813=) | |
| 12 | g.106463520A>C | CA481646372 | POLR3B | c.2613A>C (p.Ile871=) c.2439A>C (p.Ile813=) | |
| 12 | g.106463520A>G | CA243210280 | POLR3B | c.2613A>G (p.Ile871Met) c.2439A>G (p.Ile813Met) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.106463520A>T | CA481646373 | POLR3B | c.2613A>T (p.Ile871=) c.2439A>T (p.Ile813=) | |
| 12 | g.106463521T>A | CA386390874 | POLR3B | c.2614T>A (p.Ser872Thr) c.2440T>A (p.Ser814Thr) | |
| 12 | g.106463521T>C | CA386390869 | POLR3B | c.2614T>C (p.Ser872Pro) c.2440T>C (p.Ser814Pro) | |
| 12 | g.106463521T>G | CA386390872 | POLR3B | c.2614T>G (p.Ser872Ala) c.2440T>G (p.Ser814Ala) | |
| 12 | g.106463522C>A | CA386390875 | POLR3B | c.2615C>A (p.Ser872Tyr) c.2441C>A (p.Ser814Tyr) | |
| 12 | g.106463522C= | CA2061065532 | POLR3B | c.2615C= (p.Ser872=) c.2441C= (p.Ser814=) | |
| 12 | g.106463522C>G | CA6762244 | POLR3B | c.2615C>G (p.Ser872Cys) c.2441C>G (p.Ser814Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.106463522C>T | CA386390880 | POLR3B | c.2615C>T (p.Ser872Phe) c.2441C>T (p.Ser814Phe) | gnomAD v4 |
| 12 | g.106463523T>A | CA481646374 | POLR3B | c.2616T>A (p.Ser872=) c.2442T>A (p.Ser814=) | |
| 12 | g.106463523T>C | CA481646375 | POLR3B | c.2616T>C (p.Ser872=) c.2442T>C (p.Ser814=) | |
| 12 | g.106463523T>G | CA481646376 | POLR3B | c.2616T>G (p.Ser872=) c.2442T>G (p.Ser814=) | |
| 12 | g.106463524T>A | CA386390883 | POLR3B | c.2617T>A (p.Ser873Thr) c.2443T>A (p.Ser815Thr) | |
| 12 | g.106463524T>C | CA386390885 | POLR3B | c.2617T>C (p.Ser873Pro) c.2443T>C (p.Ser815Pro) | gnomAD v4 |
| 12 | g.106463524T>G | CA386390888 | POLR3B | c.2617T>G (p.Ser873Ala) c.2443T>G (p.Ser815Ala) | |
| 12 | g.106463525C>A | CA386390891 | POLR3B | c.2618C>A (p.Ser873Ter) c.2444C>A (p.Ser815Ter) | |
| 12 | g.106463525C>G | CA386390893 | POLR3B | c.2618C>G (p.Ser873Ter) c.2444C>G (p.Ser815Ter) | |
| 12 | g.106463525C>T | CA386390896 | POLR3B | c.2618C>T (p.Ser873Leu) c.2444C>T (p.Ser815Leu) | |
| 12 | g.106463526A>C | CA481646377 | POLR3B | c.2619A>C (p.Ser873=) c.2445A>C (p.Ser815=) | |
| 12 | g.106463526A>G | CA481646378 | POLR3B | c.2619A>G (p.Ser873=) c.2445A>G (p.Ser815=) | |
| 12 | g.106463526A>T | CA481646379 | POLR3B | c.2619A>T (p.Ser873=) c.2445A>T (p.Ser815=) | |
| 12 | g.106463534_106463559dup | CA2620658272 | POLR3B | c.2627_2652dup (p.Leu885LysfsTer5) c.2453_2478dup (p.Leu827LysfsTer5) | gnomAD v4 |
| 12 | g.106463527A>C | CA386390900 | POLR3B | c.2620A>C (p.Asn874His) c.2446A>C (p.Asn816His) | |
| 12 | g.106463527A>G | CA386390902 | POLR3B | c.2620A>G (p.Asn874Asp) c.2446A>G (p.Asn816Asp) | |
| 12 | g.106463527A>T | CA386390905 | POLR3B | c.2620A>T (p.Asn874Tyr) c.2446A>T (p.Asn816Tyr) | gnomAD v4 |
| 12 | g.106463528A>C | CA386390914 | POLR3B | c.2621A>C (p.Asn874Thr) c.2447A>C (p.Asn816Thr) | |
| 12 | g.106463528A>G | CA386390911 | POLR3B | c.2621A>G (p.Asn874Ser) c.2447A>G (p.Asn816Ser) | |
| 12 | g.106463528A>T | CA386390909 | POLR3B | c.2621A>T (p.Asn874Ile) c.2447A>T (p.Asn816Ile) | |
| 12 | g.106463529T>A | CA386390915 | POLR3B | c.2622T>A (p.Asn874Lys) c.2448T>A (p.Asn816Lys) | |
| 12 | g.106463529T>C | CA481646380 | POLR3B | c.2622T>C (p.Asn874=) c.2448T>C (p.Asn816=) | |
| 12 | g.106463529T>G | CA386390916 | POLR3B | c.2622T>G (p.Asn874Lys) c.2448T>G (p.Asn816Lys) | |
| 12 | g.106463530G>A | CA386390917 | POLR3B | c.2623G>A (p.Ala875Thr) c.2449G>A (p.Ala817Thr) | |
| 12 | g.106463530G>C | CA386390918 | POLR3B | c.2623G>C (p.Ala875Pro) c.2449G>C (p.Ala817Pro) | |
| 12 | g.106463530G>T | CA386390919 | POLR3B | c.2623G>T (p.Ala875Ser) c.2449G>T (p.Ala817Ser) | |
| 12 | g.106463531C>A | CA386390920 | POLR3B | c.2624C>A (p.Ala875Asp) c.2450C>A (p.Ala817Asp) | |
| 12 | g.106463531C= | CA2061065536 | POLR3B | c.2624C= (p.Ala875=) c.2450C= (p.Ala817=) | |
| 12 | g.106463531C>G | CA386390921 | POLR3B | c.2624C>G (p.Ala875Gly) c.2450C>G (p.Ala817Gly) | |
| 12 | g.106463531C>T | CA386390922 | POLR3B | c.2624C>T (p.Ala875Val) c.2450C>T (p.Ala817Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106463532T>A | CA481646381 | POLR3B | c.2625T>A (p.Ala875=) c.2451T>A (p.Ala817=) | |
| 12 | g.106463532T>C | CA481646382 | POLR3B | c.2625T>C (p.Ala875=) c.2451T>C (p.Ala817=) | |
| 12 | g.106463532T>G | CA481646383 | POLR3B | c.2625T>G (p.Ala875=) c.2451T>G (p.Ala817=) | |
| 12 | g.106463533G>A | CA386390923 | POLR3B | c.2626G>A (p.Glu876Lys) c.2452G>A (p.Glu818Lys) | dbSNP gnomAD v4 |
| 12 | g.106463533G>C | CA386390924 | POLR3B | c.2626G>C (p.Glu876Gln) c.2452G>C (p.Glu818Gln) | |
| 12 | g.106463533G= | CA2061065540 | POLR3B | c.2626G= (p.Glu876=) c.2452G= (p.Glu818=) | |
| 12 | g.106463533G>T | CA386390925 | POLR3B | c.2626G>T (p.Glu876Ter) c.2452G>T (p.Glu818Ter) | |
| 12 | g.106463534A>C | CA386390926 | POLR3B | c.2627A>C (p.Glu876Ala) c.2453A>C (p.Glu818Ala) | |
| 12 | g.106463534A>G | CA386390927 | POLR3B | c.2627A>G (p.Glu876Gly) c.2453A>G (p.Glu818Gly) | |
| 12 | g.106463534A>T | CA386390928 | POLR3B | c.2627A>T (p.Glu876Val) c.2453A>T (p.Glu818Val) | |
| 12 | g.106463535A= | CA2061065543 | POLR3B | c.2628A= (p.Glu876=) c.2454A= (p.Glu818=) | |
| 12 | g.106463535A>C | CA6762245 | POLR3B | c.2628A>C (p.Glu876Asp) c.2454A>C (p.Glu818Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106463535A>G | CA481646384 | POLR3B | c.2628A>G (p.Glu876=) c.2454A>G (p.Glu818=) | gnomAD v4 |
| 12 | g.106463535A>T | CA386390929 | POLR3B | c.2628A>T (p.Glu876Asp) c.2454A>T (p.Glu818Asp) | |
| 12 | g.106463536G>A | CA386390930 | POLR3B | c.2629G>A (p.Asp877Asn) c.2455G>A (p.Asp819Asn) | dbSNP |
| 12 | g.106463536G>C | CA386390931 | POLR3B | c.2629G>C (p.Asp877His) c.2455G>C (p.Asp819His) | |
| 12 | g.106463536G= | CA2061065546 | POLR3B | c.2629G= (p.Asp877=) c.2455G= (p.Asp819=) | |
| 12 | g.106463536G>T | CA386390932 | POLR3B | c.2629G>T (p.Asp877Tyr) c.2455G>T (p.Asp819Tyr) | |
| 12 | g.106463537A>C | CA386390933 | POLR3B | c.2630A>C (p.Asp877Ala) c.2456A>C (p.Asp819Ala) | |
| 12 | g.106463537A>G | CA386390934 | POLR3B | c.2630A>G (p.Asp877Gly) c.2456A>G (p.Asp819Gly) | gnomAD v4 |
| 12 | g.106463537A>T | CA386390935 | POLR3B | c.2630A>T (p.Asp877Val) c.2456A>T (p.Asp819Val) | |
| 12 | g.106463538T>A | CA386390937 | POLR3B | c.2631T>A (p.Asp877Glu) c.2457T>A (p.Asp819Glu) | |
| 12 | g.106463538T>C | CA481646385 | POLR3B | c.2631T>C (p.Asp877=) c.2457T>C (p.Asp819=) | |
| 12 | g.106463538T>G | CA386390936 | POLR3B | c.2631T>G (p.Asp877Glu) c.2457T>G (p.Asp819Glu) | dbSNP |
| 12 | g.106463538T= | CA2061065549 | POLR3B | c.2631T= (p.Asp877=) c.2457T= (p.Asp819=) | |
| 12 | g.106463539G>A | CA243210285 | POLR3B | c.2632G>A (p.Ala878Thr) c.2458G>A (p.Ala820Thr) | dbSNP COSMIC |
| 12 | g.106463539G>C | CA386390938 | POLR3B | c.2632G>C (p.Ala878Pro) c.2458G>C (p.Ala820Pro) | |
| 12 | g.106463539G= | CA2061065551 | POLR3B | c.2632G= (p.Ala878=) c.2458G= (p.Ala820=) | |
| 12 | g.106463539G>T | CA386390939 | POLR3B | c.2632G>T (p.Ala878Ser) c.2458G>T (p.Ala820Ser) | |
| 12 | g.106463540C>A | CA386390940 | POLR3B | c.2633C>A (p.Ala878Asp) c.2459C>A (p.Ala820Asp) | |
| 12 | g.106463540C= | CA2061065555 | POLR3B | c.2633C= (p.Ala878=) c.2459C= (p.Ala820=) | |
| 12 | g.106463540C>G | CA386390941 | POLR3B | c.2633C>G (p.Ala878Gly) c.2459C>G (p.Ala820Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.106463540C>T | CA386390942 | POLR3B | c.2633C>T (p.Ala878Val) c.2459C>T (p.Ala820Val) | gnomAD v4 |
| 12 | g.106463541T>A | CA481646386 | POLR3B | c.2634T>A (p.Ala878=) c.2460T>A (p.Ala820=) | |
| 12 | g.106463541T>C | CA481646387 | POLR3B | c.2634T>C (p.Ala878=) c.2460T>C (p.Ala820=) | |
| 12 | g.106463541T>G | CA481646388 | POLR3B | c.2634T>G (p.Ala878=) c.2460T>G (p.Ala820=) | |
| 12 | g.106463544dup | CA2573147908 | POLR3B | c.2637dup (p.Leu880SerfsTer?) c.2463dup (p.Leu822SerfsTer?) | ClinVar dbSNP |
| 12 | g.106463542T>A | CA386390945 | POLR3B | c.2635T>A (p.Phe879Ile) c.2461T>A (p.Phe821Ile) | |
| 12 | g.106463542T>C | CA386390943 | POLR3B | c.2635T>C (p.Phe879Leu) c.2461T>C (p.Phe821Leu) | |
| 12 | g.106463542T>G | CA386390944 | POLR3B | c.2635T>G (p.Phe879Val) c.2461T>G (p.Phe821Val) | |
| 12 | g.106463543T>A | CA386390946 | POLR3B | c.2636T>A (p.Phe879Tyr) c.2462T>A (p.Phe821Tyr) | |
| 12 | g.106463543T>C | CA386390947 | POLR3B | c.2636T>C (p.Phe879Ser) c.2462T>C (p.Phe821Ser) | |
| 12 | g.106463543T>G | CA386390948 | POLR3B | c.2636T>G (p.Phe879Cys) c.2462T>G (p.Phe821Cys) | |
| 12 | g.106463544T>A | CA386390949 | POLR3B | c.2637T>A (p.Phe879Leu) c.2463T>A (p.Phe821Leu) | |
| 12 | g.106463544T>C | CA481646389 | POLR3B | c.2637T>C (p.Phe879=) c.2463T>C (p.Phe821=) | |
| 12 | g.106463544T>G | CA386390950 | POLR3B | c.2637T>G (p.Phe879Leu) c.2463T>G (p.Phe821Leu) | |
| 12 | g.106463545C>A | CA386390951 | POLR3B | c.2638C>A (p.Leu880Met) c.2464C>A (p.Leu822Met) | |
| 12 | g.106463545C>G | CA386390952 | POLR3B | c.2638C>G (p.Leu880Val) c.2464C>G (p.Leu822Val) | |
| 12 | g.106463545C>T | CA481646390 | POLR3B | c.2638C>T (p.Leu880=) c.2464C>T (p.Leu822=) | |
| 12 | g.106463546T>A | CA386390953 | POLR3B | c.2639T>A (p.Leu880Gln) c.2465T>A (p.Leu822Gln) | |
| 12 | g.106463546T>C | CA386390955 | POLR3B | c.2639T>C (p.Leu880Pro) c.2465T>C (p.Leu822Pro) | |
| 12 | g.106463546T>G | CA386390954 | POLR3B | c.2639T>G (p.Leu880Arg) c.2465T>G (p.Leu822Arg) | |
| 12 | g.106463547G>A | CA481646391 | POLR3B | c.2640G>A (p.Leu880=) c.2466G>A (p.Leu822=) | |
| 12 | g.106463547G>C | CA481646392 | POLR3B | c.2640G>C (p.Leu880=) c.2466G>C (p.Leu822=) | |
| 12 | g.106463547G= | CA2061065567 | POLR3B | c.2640G= (p.Leu880=) c.2466G= (p.Leu822=) | |
| 12 | g.106463547G>T | CA481646394 | POLR3B | c.2640G>T (p.Leu880=) c.2466G>T (p.Leu822=) | dbSNP |
| 12 | g.106463547_106463549delinsGAT | CA2061065565 | POLR3B | c.2640_2642delinsGAT (p.Leu880=) c.2466_2468delinsGAT (p.Leu822=) | |
| 12 | g.106463548A>C | CA386390956 | POLR3B | c.2641A>C (p.Ile881Leu) c.2467A>C (p.Ile823Leu) | |
| 12 | g.106463548A>G | CA386390957 | POLR3B | c.2641A>G (p.Ile881Val) c.2467A>G (p.Ile823Val) | |
| 12 | g.106463548A>T | CA386390958 | POLR3B | c.2641A>T (p.Ile881Phe) c.2467A>T (p.Ile823Phe) | |
| 12 | g.106463548_106463549del | CA6762246 | POLR3B | c.2641_2642del (p.Ile881GlnfsTer?) c.2467_2468del (p.Ile823GlnfsTer?) | dbSNP ExAC |
| 12 | g.106463549T>A | CA386390961 | POLR3B | c.2642T>A (p.Ile881Asn) c.2468T>A (p.Ile823Asn) | |
| 12 | g.106463549T>C | CA386390959 | POLR3B | c.2642T>C (p.Ile881Thr) c.2468T>C (p.Ile823Thr) | |
| 12 | g.106463549T>G | CA386390960 | POLR3B | c.2642T>G (p.Ile881Ser) c.2468T>G (p.Ile823Ser) | |
| 12 | g.106463550C>A | CA481646397 | POLR3B | c.2643C>A (p.Ile881=) c.2469C>A (p.Ile823=) | dbSNP |
| 12 | g.106463550C= | CA2061065575 | POLR3B | c.2643C= (p.Ile881=) c.2469C= (p.Ile823=) | |
| 12 | g.106463550C>G | CA386390962 | POLR3B | c.2643C>G (p.Ile881Met) c.2469C>G (p.Ile823Met) | |
| 12 | g.106463550C>T | CA481646398 | POLR3B | c.2643C>T (p.Ile881=) c.2469C>T (p.Ile823=) | |
| 12 | g.106463551A= | CA2061065577 | POLR3B | c.2644A= (p.Lys882=) c.2470A= (p.Lys824=) | |
| 12 | g.106463551A>C | CA386390963 | POLR3B | c.2644A>C (p.Lys882Gln) c.2470A>C (p.Lys824Gln) | |
| 12 | g.106463551A>G | CA386390964 | POLR3B | c.2644A>G (p.Lys882Glu) c.2470A>G (p.Lys824Glu) | |
| 12 | g.106463551A>T | CA386390965 | POLR3B | c.2644A>T (p.Lys882Ter) c.2470A>T (p.Lys824Ter) | dbSNP |
| 12 | g.106463552A>C | CA386390966 | POLR3B | c.2645A>C (p.Lys882Thr) c.2471A>C (p.Lys824Thr) | |
| 12 | g.106463552A>G | CA386390967 | POLR3B | c.2645A>G (p.Lys882Arg) c.2471A>G (p.Lys824Arg) | |
| 12 | g.106463552A>T | CA386390968 | POLR3B | c.2645A>T (p.Lys882Ile) c.2471A>T (p.Lys824Ile) | |
| 12 | g.106463553A>C | CA386390969 | POLR3B | c.2646A>C (p.Lys882Asn) c.2472A>C (p.Lys824Asn) | |
| 12 | g.106463553A>G | CA481646399 | POLR3B | c.2646A>G (p.Lys882=) c.2472A>G (p.Lys824=) | |
| 12 | g.106463553A>T | CA386390970 | POLR3B | c.2646A>T (p.Lys882Asn) c.2472A>T (p.Lys824Asn) | |
| 12 | g.106463554A>C | CA386390971 | POLR3B | c.2647A>C (p.Met883Leu) c.2473A>C (p.Met825Leu) | |
| 12 | g.106463554A>G | CA386390972 | POLR3B | c.2647A>G (p.Met883Val) c.2473A>G (p.Met825Val) | gnomAD v4 |
| 12 | g.106463554A>T | CA386390973 | POLR3B | c.2647A>T (p.Met883Leu) c.2473A>T (p.Met825Leu) | |
| 12 | g.106463555T>A | CA386390974 | POLR3B | c.2648T>A (p.Met883Lys) c.2474T>A (p.Met825Lys) | |
| 12 | g.106463555T>C | CA6762247 | POLR3B | c.2648T>C (p.Met883Thr) c.2474T>C (p.Met825Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106463555T>G | CA386390975 | POLR3B | c.2648T>G (p.Met883Arg) c.2474T>G (p.Met825Arg) | |
| 12 | g.106463555T= | CA2061065581 | POLR3B | c.2648T= (p.Met883=) c.2474T= (p.Met825=) | |
| 12 | g.106463556G>A | CA386390976 | POLR3B | c.2649G>A (p.Met883Ile) c.2475G>A (p.Met825Ile) | |
| 12 | g.106463556G>C | CA386390978 | POLR3B | c.2649G>C (p.Met883Ile) c.2475G>C (p.Met825Ile) | |
| 12 | g.106463556G>T | CA386390977 | POLR3B | c.2649G>T (p.Met883Ile) c.2475G>T (p.Met825Ile) | |
| 12 | g.106463557C>A | CA386390979 | POLR3B | c.2650C>A (p.Leu884Met) c.2476C>A (p.Leu826Met) | |
| 12 | g.106463557C>G | CA386390980 | POLR3B | c.2650C>G (p.Leu884Val) c.2476C>G (p.Leu826Val) | |
| 12 | g.106463557C>T | CA481646400 | POLR3B | c.2650C>T (p.Leu884=) c.2476C>T (p.Leu826=) | |
| 12 | g.106463558T>A | CA386390981 | POLR3B | c.2651T>A (p.Leu884Gln) c.2477T>A (p.Leu826Gln) | |
| 12 | g.106463558T>C | CA386390982 | POLR3B | c.2651T>C (p.Leu884Pro) c.2477T>C (p.Leu826Pro) | |
| 12 | g.106463558T>G | CA386390983 | POLR3B | c.2651T>G (p.Leu884Arg) c.2477T>G (p.Leu826Arg) | |
| 12 | g.106463559G>A | CA481646403 | POLR3B | c.2652G>A (p.Leu884=) c.2478G>A (p.Leu826=) | |
| 12 | g.106463559G>C | CA481646401 | POLR3B | c.2652G>C (p.Leu884=) c.2478G>C (p.Leu826=) | |
| 12 | g.106463559G>T | CA481646402 | POLR3B | c.2652G>T (p.Leu884=) c.2478G>T (p.Leu826=) | |
| 12 | g.106463560del | CA2620658273 | POLR3B | c.2653del (p.Leu885Ter) c.2479del (p.Leu827Ter) | gnomAD v4 |
| 12 | g.106463560C>A | CA386390984 | POLR3B | c.2653C>A (p.Leu885Met) c.2479C>A (p.Leu827Met) | |
| 12 | g.106463560C>G | CA386390985 | POLR3B | c.2653C>G (p.Leu885Val) c.2479C>G (p.Leu827Val) | |
| 12 | g.106463560C>T | CA481646404 | POLR3B | c.2653C>T (p.Leu885=) c.2479C>T (p.Leu827=) | gnomAD v4 |
| 12 | g.106463561T>A | CA386390986 | POLR3B | c.2654T>A (p.Leu885Gln) c.2480T>A (p.Leu827Gln) | |
| 12 | g.106463561T>C | CA386390987 | POLR3B | c.2654T>C (p.Leu885Pro) c.2480T>C (p.Leu827Pro) | gnomAD v4 |
| 12 | g.106463561T>G | CA386390988 | POLR3B | c.2654T>G (p.Leu885Arg) c.2480T>G (p.Leu827Arg) | |
| 12 | g.106463562G>A | CA481646407 | POLR3B | c.2655G>A (p.Leu885=) c.2481G>A (p.Leu827=) | |
| 12 | g.106463562G>C | CA481646406 | POLR3B | c.2655G>C (p.Leu885=) c.2481G>C (p.Leu827=) | |
| 12 | g.106463562G>T | CA481646405 | POLR3B | c.2655G>T (p.Leu885=) c.2481G>T (p.Leu827=) | |
| 12 | g.106463563A= | CA2061065586 | POLR3B | c.2656A= (p.Arg886=) c.2482A= (p.Arg828=) | |
| 12 | g.106463563A>C | CA481646408 | POLR3B | c.2656A>C (p.Arg886=) c.2482A>C (p.Arg828=) | dbSNP |
| 12 | g.106463563A>G | CA386390989 | POLR3B | c.2656A>G (p.Arg886Gly) c.2482A>G (p.Arg828Gly) | |
| 12 | g.106463563A>T | CA386390990 | POLR3B | c.2656A>T (p.Arg886Ter) c.2482A>T (p.Arg828Ter) | |
| 12 | g.106463564G>A | CA386390991 | POLR3B | c.2657G>A (p.Arg886Lys) c.2483G>A (p.Arg828Lys) | |
| 12 | g.106463564G>C | CA386390993 | POLR3B | c.2657G>C (p.Arg886Thr) c.2483G>C (p.Arg828Thr) | |
| 12 | g.106463564G>T | CA386390992 | POLR3B | c.2657G>T (p.Arg886Ile) c.2483G>T (p.Arg828Ile) | |
| 12 | g.106463565A>C | CA386390994 | POLR3B | c.2658A>C (p.Arg886Ser) c.2484A>C (p.Arg828Ser) | |
| 12 | g.106463565A>G | CA481646409 | POLR3B | c.2658A>G (p.Arg886=) c.2484A>G (p.Arg828=) | |
| 12 | g.106463565A>T | CA386390995 | POLR3B | c.2658A>T (p.Arg886Ser) c.2484A>T (p.Arg828Ser) | |
| 12 | g.106463566C>A | CA386390996 | POLR3B | c.2659C>A (p.Gln887Lys) c.2485C>A (p.Gln829Lys) | |
| 12 | g.106463566C= | CA2061065588 | POLR3B | c.2659C= (p.Gln887=) c.2485C= (p.Gln829=) | |
| 12 | g.106463566C>G | CA386390997 | POLR3B | c.2659C>G (p.Gln887Glu) c.2485C>G (p.Gln829Glu) | |
| 12 | g.106463566C>T | CA386390998 | POLR3B | c.2659C>T (p.Gln887Ter) c.2485C>T (p.Gln829Ter) | dbSNP gnomAD v4 |
| 12 | g.106463567A>C | CA386390999 | POLR3B | c.2660A>C (p.Gln887Pro) c.2486A>C (p.Gln829Pro) | |
| 12 | g.106463567A>G | CA386391000 | POLR3B | c.2660A>G (p.Gln887Arg) c.2486A>G (p.Gln829Arg) | |
| 12 | g.106463567A>T | CA386391001 | POLR3B | c.2660A>T (p.Gln887Leu) c.2486A>T (p.Gln829Leu) | |
| 12 | g.106463568G>A | CA481646410 | POLR3B | c.2661G>A (p.Gln887=) c.2487G>A (p.Gln829=) | gnomAD v4 |
| 12 | g.106463568G>C | CA386391002 | POLR3B | c.2661G>C (p.Gln887His) c.2487G>C (p.Gln829His) | |
| 12 | g.106463568G>T | CA386391003 | POLR3B | c.2661G>T (p.Gln887His) c.2487G>T (p.Gln829His) | |
| 12 | g.106463569A>C | CA386391005 | POLR3B | c.2662A>C (p.Thr888Pro) c.2488A>C (p.Thr830Pro) | |
| 12 | g.106463569A>G | CA386391006 | POLR3B | c.2662A>G (p.Thr888Ala) c.2488A>G (p.Thr830Ala) | |
| 12 | g.106463569A>T | CA386391004 | POLR3B | c.2662A>T (p.Thr888Ser) c.2488A>T (p.Thr830Ser) | |
| 12 | g.106463570C>A | CA386391007 | POLR3B | c.2663C>A (p.Thr888Lys) c.2489C>A (p.Thr830Lys) | |
| 12 | g.106463570C= | CA2061065591 | POLR3B | c.2663C= (p.Thr888=) c.2489C= (p.Thr830=) | |
| 12 | g.106463570C>G | CA386391008 | POLR3B | c.2663C>G (p.Thr888Arg) c.2489C>G (p.Thr830Arg) | |
| 12 | g.106463570C>T | CA386391009 | POLR3B | c.2663C>T (p.Thr888Ile) c.2489C>T (p.Thr830Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.106463570_106463571delinsAC | CA2695217238 | POLR3B | c.2663_2664delinsAC (p.Thr888Asn) c.2489_2490delinsAC (p.Thr830Asn) | |
| 12 | g.106463571A>C | CA481646411 | POLR3B | c.2664A>C (p.Thr888=) c.2490A>C (p.Thr830=) | |
| 12 | g.106463571A>G | CA481646413 | POLR3B | c.2664A>G (p.Thr888=) c.2490A>G (p.Thr830=) | |
| 12 | g.106463571A>T | CA481646414 | POLR3B | c.2664A>T (p.Thr888=) c.2490A>T (p.Thr830=) | |
| 12 | g.106463572A>C | CA481646415 | POLR3B | c.2665A>C (p.Arg889=) c.2491A>C (p.Arg831=) | |
| 12 | g.106463572A>G | CA386391010 | POLR3B | c.2665A>G (p.Arg889Gly) c.2491A>G (p.Arg831Gly) | gnomAD v4 |
| 12 | g.106463572A>T | CA386391011 | POLR3B | c.2665A>T (p.Arg889Trp) c.2491A>T (p.Arg831Trp) | |
| 12 | g.106463573G>A | CA386391012 | POLR3B | c.2666G>A (p.Arg889Lys) c.2492G>A (p.Arg831Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.106463573G>C | CA386391013 | POLR3B | c.2666G>C (p.Arg889Thr) c.2492G>C (p.Arg831Thr) | |
| 12 | g.106463573G= | CA2061065596 | POLR3B | c.2666G= (p.Arg889=) c.2492G= (p.Arg831=) | |
| 12 | g.106463573G>T | CA386391014 | POLR3B | c.2666G>T (p.Arg889Met) c.2492G>T (p.Arg831Met) | |
| 12 | g.106463574del | CA2695217239 | POLR3B | c.2667del (p.Arg889SerfsTer21) c.2493del (p.Arg831SerfsTer21) | |
| 12 | g.106463574G>A | CA481646416 | POLR3B | c.2667G>A (p.Arg889=) c.2493G>A (p.Arg831=) | gnomAD v4 |
| 12 | g.106463574G>C | CA386391015 | POLR3B | c.2667G>C (p.Arg889Ser) c.2493G>C (p.Arg831Ser) | |
| 12 | g.106463574G>T | CA386391016 | POLR3B | c.2667G>T (p.Arg889Ser) c.2493G>T (p.Arg831Ser) | |
| 12 | g.106463575C>A | CA386391017 | POLR3B | c.2668C>A (p.Arg890Ser) c.2494C>A (p.Arg832Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.106463575C= | CA2061065601 | POLR3B | c.2668C= (p.Arg890=) c.2494C= (p.Arg832=) | |
| 12 | g.106463575C>G | CA386391018 | POLR3B | c.2668C>G (p.Arg890Gly) c.2494C>G (p.Arg832Gly) | |
| 12 | g.106463575C>T | CA6762248 | POLR3B | c.2668C>T (p.Arg890Cys) c.2494C>T (p.Arg832Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.106463576_106463578del | CA2620658274 | POLR3B | c.2669_2671del (p.Arg890del) c.2495_2497del (p.Arg832del) | gnomAD v4 |
| 12 | g.106463576G>A | CA6762249 | POLR3B | c.2669G>A (p.Arg890His) c.2495G>A (p.Arg832His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106463576G>C | CA386391020 | POLR3B | c.2669G>C (p.Arg890Pro) c.2495G>C (p.Arg832Pro) | |
| 12 | g.106463576G= | CA2061065605 | POLR3B | c.2669G= (p.Arg890=) c.2495G= (p.Arg832=) | |
| 12 | g.106463576G>T | CA386391019 | POLR3B | c.2669G>T (p.Arg890Leu) c.2495G>T (p.Arg832Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106463577T>A | CA10636281 | POLR3B | c.2670T>A (p.Arg890=) c.2496T>A (p.Arg832=) | ClinVar dbSNP |
| 12 | g.106463577T>C | CA481646417 | POLR3B | c.2670T>C (p.Arg890=) c.2496T>C (p.Arg832=) | |
| 12 | g.106463577T>G | CA481646418 | POLR3B | c.2670T>G (p.Arg890=) c.2496T>G (p.Arg832=) | |
| 12 | g.106463577T= | CA2061065611 | POLR3B | c.2670T= (p.Arg890=) c.2496T= (p.Arg832=) | |
| 12 | g.106463578C>A | CA386391021 | POLR3B | c.2671C>A (p.Pro891Thr) c.2497C>A (p.Pro833Thr) | |
| 12 | g.106463578C>G | CA386391022 | POLR3B | c.2671C>G (p.Pro891Ala) c.2497C>G (p.Pro833Ala) | |
| 12 | g.106463578C>T | CA386391023 | POLR3B | c.2671C>T (p.Pro891Ser) c.2497C>T (p.Pro833Ser) | |
| 12 | g.106463579C>A | CA386391024 | POLR3B | c.2672C>A (p.Pro891Gln) c.2498C>A (p.Pro833Gln) | |
| 12 | g.106463579C>G | CA386391025 | POLR3B | c.2672C>G (p.Pro891Arg) c.2498C>G (p.Pro833Arg) | ClinVar gnomAD v4 |
| 12 | g.106463579C>T | CA386391026 | POLR3B | c.2672C>T (p.Pro891Leu) c.2498C>T (p.Pro833Leu) | |
| 12 | g.106463580A>C | CA481646423 | POLR3B | c.2673A>C (p.Pro891=) c.2499A>C (p.Pro833=) | gnomAD v4 |
| 12 | g.106463580A>G | CA481646424 | POLR3B | c.2673A>G (p.Pro891=) c.2499A>G (p.Pro833=) | |
| 12 | g.106463580A>T | CA481646425 | POLR3B | c.2673A>T (p.Pro891=) c.2499A>T (p.Pro833=) | |
| 12 | g.106463581G>A | CA386391027 | POLR3B | c.2674G>A (p.Glu892Lys) c.2500G>A (p.Glu834Lys) | gnomAD v4 |
| 12 | g.106463581G>C | CA386391028 | POLR3B | c.2674G>C (p.Glu892Gln) c.2500G>C (p.Glu834Gln) | |
| 12 | g.106463581G>T | CA386391029 | POLR3B | c.2674G>T (p.Glu892Ter) c.2500G>T (p.Glu834Ter) | |
| 12 | g.106463582A>C | CA386391030 | POLR3B | c.2675A>C (p.Glu892Ala) c.2501A>C (p.Glu834Ala) | |
| 12 | g.106463582A>G | CA386391031 | POLR3B | c.2675A>G (p.Glu892Gly) c.2501A>G (p.Glu834Gly) | gnomAD v4 |
| 12 | g.106463582A>T | CA386391032 | POLR3B | c.2675A>T (p.Glu892Val) c.2501A>T (p.Glu834Val) | |
| 12 | g.106463583A>C | CA386391033 | POLR3B | c.2676A>C (p.Glu892Asp) c.2502A>C (p.Glu834Asp) | |
| 12 | g.106463583A>G | CA481646428 | POLR3B | c.2676A>G (p.Glu892=) c.2502A>G (p.Glu834=) | gnomAD v4 |
| 12 | g.106463583A>T | CA386391034 | POLR3B | c.2676A>T (p.Glu892Asp) c.2502A>T (p.Glu834Asp) | |
| 12 | g.106463584A>C | CA386391035 | POLR3B | c.2677A>C (p.Ile893Leu) c.2503A>C (p.Ile835Leu) | |
| 12 | g.106463584A>G | CA386391037 | POLR3B | c.2677A>G (p.Ile893Val) c.2503A>G (p.Ile835Val) | |
| 12 | g.106463584A>T | CA386391036 | POLR3B | c.2677A>T (p.Ile893Phe) c.2503A>T (p.Ile835Phe) | |
| 12 | g.106463585T>A | CA386391038 | POLR3B | c.2678T>A (p.Ile893Asn) c.2504T>A (p.Ile835Asn) | |
| 12 | g.106463585T>C | CA6762250 | POLR3B | c.2678T>C (p.Ile893Thr) c.2504T>C (p.Ile835Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.106463585T>G | CA386391039 | POLR3B | c.2678T>G (p.Ile893Ser) c.2504T>G (p.Ile835Ser) | gnomAD v4 |
| 12 | g.106463585T= | CA2061065617 | POLR3B | c.2678T= (p.Ile893=) c.2504T= (p.Ile835=) | |
| 12 | g.106463586T>A | CA481646435 | POLR3B | c.2679T>A (p.Ile893=) c.2505T>A (p.Ile835=) | |
| 12 | g.106463586T>C | CA481646433 | POLR3B | c.2679T>C (p.Ile893=) c.2505T>C (p.Ile835=) | dbSNP gnomAD v4 |
| 12 | g.106463586T>G | CA386391040 | POLR3B | c.2679T>G (p.Ile893Met) c.2505T>G (p.Ile835Met) | |
| 12 | g.106463586T= | CA2061065622 | POLR3B | c.2679T= (p.Ile893=) c.2505T= (p.Ile835=) | |
| 12 | g.106463587G>A | CA386391042 | POLR3B | c.2680G>A (p.Gly894Arg) c.2506G>A (p.Gly836Arg) | dbSNP |
| 12 | g.106463587G>C | CA386391041 | POLR3B | c.2680G>C (p.Gly894Arg) c.2506G>C (p.Gly836Arg) | |
| 12 | g.106463587G= | CA2061065625 | POLR3B | c.2680G= (p.Gly894=) c.2506G= (p.Gly836=) | |
| 12 | g.106463587G>T | CA386391043 | POLR3B | c.2680G>T (p.Gly894Ter) c.2506G>T (p.Gly836Ter) | |
| 12 | g.106463588G>A | CA386391044 | POLR3B | c.2681G>A (p.Gly894Glu) c.2507G>A (p.Gly836Glu) | |
| 12 | g.106463588G>C | CA386391045 | POLR3B | c.2681G>C (p.Gly894Ala) c.2507G>C (p.Gly836Ala) | |
| 12 | g.106463588G= | CA2061065630 | POLR3B | c.2681G= (p.Gly894=) c.2507G= (p.Gly836=) | |
| 12 | g.106463588G>T | CA6762251 | POLR3B | c.2681G>T (p.Gly894Val) c.2507G>T (p.Gly836Val) | dbSNP ExAC gnomAD v4 |
| 12 | g.106463589A= | CA2061065633 | POLR3B | c.2682A= (p.Gly894=) c.2508A= (p.Gly836=) | |
| 12 | g.106463589A>C | CA481646436 | POLR3B | c.2682A>C (p.Gly894=) c.2508A>C (p.Gly836=) | |
| 12 | g.106463589A>G | CA481646437 | POLR3B | c.2682A>G (p.Gly894=) c.2508A>G (p.Gly836=) | dbSNP |
| 12 | g.106463589A>T | CA481646439 | POLR3B | c.2682A>T (p.Gly894=) c.2508A>T (p.Gly836=) | |
| 12 | g.106463590G>A | CA386391046 | POLR3B | c.2683G>A (p.Asp895Asn) c.2509G>A (p.Asp837Asn) | ClinVar dbSNP |
| 12 | g.106463590G>C | CA386391047 | POLR3B | c.2683G>C (p.Asp895His) c.2509G>C (p.Asp837His) | |
| 12 | g.106463590G= | CA2061065637 | POLR3B | c.2683G= (p.Asp895=) c.2509G= (p.Asp837=) | |
| 12 | g.106463590G>T | CA386391048 | POLR3B | c.2683G>T (p.Asp895Tyr) c.2509G>T (p.Asp837Tyr) | |
| 12 | g.106463591A>C | CA386391049 | POLR3B | c.2684A>C (p.Asp895Ala) c.2510A>C (p.Asp837Ala) | |
| 12 | g.106463591A>G | CA386391050 | POLR3B | c.2684A>G (p.Asp895Gly) c.2510A>G (p.Asp837Gly) | |
| 12 | g.106463591A>T | CA386391051 | POLR3B | c.2684A>T (p.Asp895Val) c.2510A>T (p.Asp837Val) | |
| 12 | g.106463592C>A | CA386391052 | POLR3B | c.2685C>A (p.Asp895Glu) c.2511C>A (p.Asp837Glu) | |
| 12 | g.106463592C= | CA2061065639 | POLR3B | c.2685C= (p.Asp895=) c.2511C= (p.Asp837=) | |
| 12 | g.106463592C>G | CA386391053 | POLR3B | c.2685C>G (p.Asp895Glu) c.2511C>G (p.Asp837Glu) | |
| 12 | g.106463592C>T | CA481646443 | POLR3B | c.2685C>T (p.Asp895=) c.2511C>T (p.Asp837=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.106463593A= | CA2061065644 | POLR3B | c.2686A= (p.Lys896=) c.2512A= (p.Lys838=) | |
| 12 | g.106463593A>C | CA386391054 | POLR3B | c.2686A>C (p.Lys896Gln) c.2512A>C (p.Lys838Gln) | |
| 12 | g.106463593A>G | CA386391055 | POLR3B | c.2686A>G (p.Lys896Glu) c.2512A>G (p.Lys838Glu) | |
| 12 | g.106463593A>T | CA343329 | POLR3B | c.2686A>T (p.Lys896Ter) c.2512A>T (p.Lys838Ter) | ClinVar dbSNP |
| 12 | g.106463594_106463595del | CA2620658275 | POLR3B | c.2687_2688del (p.Lys896IlefsTer24) c.2513_2514del (p.Lys838IlefsTer24) | gnomAD v4 |
| 12 | g.106463594A>C | CA386391058 | POLR3B | c.2687A>C (p.Lys896Thr) c.2513A>C (p.Lys838Thr) | |
| 12 | g.106463594A>G | CA386391056 | POLR3B | c.2687A>G (p.Lys896Arg) c.2513A>G (p.Lys838Arg) | |
| 12 | g.106463594A>T | CA386391057 | POLR3B | c.2687A>T (p.Lys896Ile) c.2513A>T (p.Lys838Ile) | |
| 12 | g.106463595A= | CA2061065648 | POLR3B | c.2688A= (p.Lys896=) c.2514A= (p.Lys838=) | |
| 12 | g.106463595A>C | CA386391059 | POLR3B | c.2688A>C (p.Lys896Asn) c.2514A>C (p.Lys838Asn) | |
| 12 | g.106463595A>G | CA481646445 | POLR3B | c.2688A>G (p.Lys896=) c.2514A>G (p.Lys838=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.106463595A>T | CA386391060 | POLR3B | c.2688A>T (p.Lys896Asn) c.2514A>T (p.Lys838Asn) | |
| 12 | g.106463596T>A | CA386391061 | POLR3B | c.2689T>A (p.Phe897Ile) c.2515T>A (p.Phe839Ile) | gnomAD v4 |
| 12 | g.106463596T>C | CA386391062 | POLR3B | c.2689T>C (p.Phe897Leu) c.2515T>C (p.Phe839Leu) | |
| 12 | g.106463596T>G | CA386391063 | POLR3B | c.2689T>G (p.Phe897Val) c.2515T>G (p.Phe839Val) | |
| 12 | g.106463597T>A | CA386391064 | POLR3B | c.2690T>A (p.Phe897Tyr) c.2516T>A (p.Phe839Tyr) | |
| 12 | g.106463597T>C | CA386391065 | POLR3B | c.2690T>C (p.Phe897Ser) c.2516T>C (p.Phe839Ser) | |
| 12 | g.106463597T>G | CA386391066 | POLR3B | c.2690T>G (p.Phe897Cys) c.2516T>G (p.Phe839Cys) | |
| 12 | g.106463598C>A | CA386391067 | POLR3B | c.2691C>A (p.Phe897Leu) c.2517C>A (p.Phe839Leu) | |
| 12 | g.106463598C>G | CA386391068 | POLR3B | c.2691C>G (p.Phe897Leu) c.2517C>G (p.Phe839Leu) | |
| 12 | g.106463598C>T | CA481646447 | POLR3B | c.2691C>T (p.Phe897=) c.2517C>T (p.Phe839=) | gnomAD v4 |
| 12 | g.106463599A>C | CA386391071 | POLR3B | c.2692A>C (p.Ser898Arg) c.2518A>C (p.Ser840Arg) | |
| 12 | g.106463599A>G | CA386391070 | POLR3B | c.2692A>G (p.Ser898Gly) c.2518A>G (p.Ser840Gly) | |
| 12 | g.106463599A>T | CA386391069 | POLR3B | c.2692A>T (p.Ser898Cys) c.2518A>T (p.Ser840Cys) | |
| 12 | g.106463600G>A | CA6762252 | POLR3B | c.2693G>A (p.Ser898Asn) c.2519G>A (p.Ser840Asn) | dbSNP ExAC gnomAD v2 |
| 12 | g.106463600G>C | CA386391072 | POLR3B | c.2693G>C (p.Ser898Thr) c.2519G>C (p.Ser840Thr) | |
| 12 | g.106463600G= | CA2061065651 | POLR3B | c.2693G= (p.Ser898=) c.2519G= (p.Ser840=) | |
| 12 | g.106463600G>T | CA386391073 | POLR3B | c.2693G>T (p.Ser898Ile) c.2519G>T (p.Ser840Ile) | |
| 12 | g.106463601C>A | CA386391074 | POLR3B | c.2694C>A (p.Ser898Arg) c.2520C>A (p.Ser840Arg) | |
| 12 | g.106463601C= | CA2061065656 | POLR3B | c.2694C= (p.Ser898=) c.2520C= (p.Ser840=) | |
| 12 | g.106463601C>G | CA386391075 | POLR3B | c.2694C>G (p.Ser898Arg) c.2520C>G (p.Ser840Arg) | |
| 12 | g.106463601C>T | CA243210306 | POLR3B | c.2694C>T (p.Ser898=) c.2520C>T (p.Ser840=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.106463602A>C | CA386391076 | POLR3B | c.2695A>C (p.Ser899Arg) c.2521A>C (p.Ser841Arg) | |
| 12 | g.106463602A>G | CA386391077 | POLR3B | c.2695A>G (p.Ser899Gly) c.2521A>G (p.Ser841Gly) | |
| 12 | g.106463602A>T | CA386391078 | POLR3B | c.2695A>T (p.Ser899Cys) c.2521A>T (p.Ser841Cys) |