Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
12 | g.106463603G>A | CA386391079 | POLR3B | c.2696G>A (p.Ser899Asn) c.2522G>A (p.Ser841Asn) | |
12 | g.106463603G>C | CA386391080 | POLR3B | c.2696G>C (p.Ser899Thr) c.2522G>C (p.Ser841Thr) | |
12 | g.106463603G>T | CA386391081 | POLR3B | c.2696G>T (p.Ser899Ile) c.2522G>T (p.Ser841Ile) | |
12 | g.106463604T>A | CA386391082 | POLR3B | c.2697T>A (p.Ser899Arg) c.2523T>A (p.Ser841Arg) | |
12 | g.106463604T>C | CA481646455 | POLR3B | c.2697T>C (p.Ser899=) c.2523T>C (p.Ser841=) | gnomAD v4 |
12 | g.106463604T>G | CA386391083 | POLR3B | c.2697T>G (p.Ser899Arg) c.2523T>G (p.Ser841Arg) | |
12 | g.106463605C>A | CA386391084 | POLR3B | c.2698C>A (p.Arg900Ser) c.2524C>A (p.Arg842Ser) | gnomAD v4 COSMIC |
12 | g.106463605C= | CA2061065663 | POLR3B | c.2698C= (p.Arg900=) c.2524C= (p.Arg842=) | |
12 | g.106463605C>G | CA386391085 | POLR3B | c.2698C>G (p.Arg900Gly) c.2524C>G (p.Arg842Gly) | |
12 | g.106463605C>T | CA6762253 | POLR3B | c.2698C>T (p.Arg900Cys) c.2524C>T (p.Arg842Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.106463606G>A | CA386391086 | POLR3B | c.2699G>A (p.Arg900His) c.2525G>A (p.Arg842His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.106463606G>C | CA386391087 | POLR3B | c.2699G>C (p.Arg900Pro) c.2525G>C (p.Arg842Pro) | |
12 | g.106463606G= | CA2061065667 | POLR3B | c.2699G= (p.Arg900=) c.2525G= (p.Arg842=) | |
12 | g.106463606G>T | CA386391088 | POLR3B | c.2699G>T (p.Arg900Leu) c.2525G>T (p.Arg842Leu) | |
12 | g.106463607T>A | CA481646458 | POLR3B | c.2700T>A (p.Arg900=) c.2526T>A (p.Arg842=) |