Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.106463493A>C | CA481646357 | POLR3B | c.2586A>C (p.Thr862=) c.2412A>C (p.Thr804=) | |
12 | g.106463493A>G | CA481646358 | POLR3B | c.2586A>G (p.Thr862=) c.2412A>G (p.Thr804=) | |
12 | g.106463493A>T | CA481646359 | POLR3B | c.2586A>T (p.Thr862=) c.2412A>T (p.Thr804=) | |
12 | g.106463494G>A | CA386390680 | POLR3B | c.2587G>A (p.Asp863Asn) c.2413G>A (p.Asp805Asn) | COSMIC |
12 | g.106463494G>C | CA386390682 | POLR3B | c.2587G>C (p.Asp863His) c.2413G>C (p.Asp805His) | |
12 | g.106463494G>T | CA386390685 | POLR3B | c.2587G>T (p.Asp863Tyr) c.2413G>T (p.Asp805Tyr) | gnomAD v4 |
12 | g.106463495A>C | CA386390692 | POLR3B | c.2588A>C (p.Asp863Ala) c.2414A>C (p.Asp805Ala) | |
12 | g.106463495A>G | CA386390694 | POLR3B | c.2588A>G (p.Asp863Gly) c.2414A>G (p.Asp805Gly) | |
12 | g.106463495A>T | CA386390690 | POLR3B | c.2588A>T (p.Asp863Val) c.2414A>T (p.Asp805Val) | |
12 | g.106463496C>A | CA386390697 | POLR3B | c.2589C>A (p.Asp863Glu) c.2415C>A (p.Asp805Glu) | |
12 | g.106463496C>G | CA386390700 | POLR3B | c.2589C>G (p.Asp863Glu) c.2415C>G (p.Asp805Glu) | |
12 | g.106463496C>T | CA481646360 | POLR3B | c.2589C>T (p.Asp863=) c.2415C>T (p.Asp805=) | |
12 | g.106463497T>A | CA386390704 | POLR3B | c.2590T>A (p.Ser864Thr) c.2416T>A (p.Ser806Thr) | |
12 | g.106463497T>C | CA386390705 | POLR3B | c.2590T>C (p.Ser864Pro) c.2416T>C (p.Ser806Pro) | |
12 | g.106463497T>G | CA386390708 | POLR3B | c.2590T>G (p.Ser864Ala) c.2416T>G (p.Ser806Ala) | |
12 | g.106463498C>A | CA386390716 | POLR3B | c.2591C>A (p.Ser864Ter) c.2417C>A (p.Ser806Ter) | |
12 | g.106463498C>G | CA386390711 | POLR3B | c.2591C>G (p.Ser864Ter) c.2417C>G (p.Ser806Ter) | |
12 | g.106463498C>T | CA386390714 | POLR3B | c.2591C>T (p.Ser864Leu) c.2417C>T (p.Ser806Leu) | gnomAD v4 |
12 | g.106463499A>C | CA481646361 | POLR3B | c.2592A>C (p.Ser864=) c.2418A>C (p.Ser806=) | gnomAD v4 |
12 | g.106463499A>G | CA481646362 | POLR3B | c.2592A>G (p.Ser864=) c.2418A>G (p.Ser806=) | |
12 | g.106463499A>T | CA481646363 | POLR3B | c.2592A>T (p.Ser864=) c.2418A>T (p.Ser806=) | |
12 | g.106463503_106463504del | CA2575275523 | POLR3B | c.2596_2597del (p.Ile866Ter) c.2422_2423del (p.Ile808Ter) | |
12 | g.106463500T>A | CA386390719 | POLR3B | c.2593T>A (p.Tyr865Asn) c.2419T>A (p.Tyr807Asn) | |
12 | g.106463500T>C | CA386390722 | POLR3B | c.2593T>C (p.Tyr865His) c.2419T>C (p.Tyr807His) | dbSNP |
12 | g.106463500T>G | CA386390724 | POLR3B | c.2593T>G (p.Tyr865Asp) c.2419T>G (p.Tyr807Asp) | |
12 | g.106463500T= | CA2061065500 | POLR3B | c.2593T= (p.Tyr865=) c.2419T= (p.Tyr807=) | |
12 | g.106463501A>C | CA386390728 | POLR3B | c.2594A>C (p.Tyr865Ser) c.2420A>C (p.Tyr807Ser) | |
12 | g.106463501A>G | CA386390730 | POLR3B | c.2594A>G (p.Tyr865Cys) c.2420A>G (p.Tyr807Cys) | gnomAD v4 |
12 | g.106463501A>T | CA386390732 | POLR3B | c.2594A>T (p.Tyr865Phe) c.2420A>T (p.Tyr807Phe) | |
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 |