Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.43068019T>A | CA392080604 | UBR1 | c.677A>T (p.Tyr226Phe) c.*202+2880A>T (n.*202+2880A>T) | |
15 | g.43068019T>C | CA392080606 | UBR1 | c.677A>G (p.Tyr226Cys) c.*202+2880A>G (n.*202+2880A>G) | |
15 | g.43068019T>G | CA16607782 | UBR1 | c.677A>C (p.Tyr226Ser) c.*202+2880A>C (n.*202+2880A>C) | ClinVar dbSNP |
15 | g.43068019T= | CA2173020188 | UBR1 | c.677A= (p.Tyr226=) c.*202+2880A= (n.*202+2880A=) | |
15 | g.43068020A>C | CA392080611 | UBR1 | c.676T>G (p.Tyr226Asp) c.*202+2879T>G (n.*202+2879T>G) | |
15 | g.43068020A>G | CA392080614 | UBR1 | c.676T>C (p.Tyr226His) c.*202+2879T>C (n.*202+2879T>C) | |
15 | g.43068020A>T | CA392080616 | UBR1 | c.676T>A (p.Tyr226Asn) c.*202+2879T>A (n.*202+2879T>A) | |
15 | g.43068021T>A | CA392080619 | UBR1 | c.675A>T (p.Arg225Ser) c.*202+2878A>T (n.*202+2878A>T) | |
15 | g.43068021T>C | CA490121069 | UBR1 | c.675A>G (p.Arg225=) c.*202+2878A>G (n.*202+2878A>G) | dbSNP |
15 | g.43068021T>G | CA269943731 | UBR1 | c.675A>C (p.Arg225Ser) c.*202+2878A>C (n.*202+2878A>C) | dbSNP |
15 | g.43068021T= | CA2173020189 | UBR1 | c.675A= (p.Arg225=) c.*202+2878A= (n.*202+2878A=) | |
15 | g.43068022C>A | CA392080626 | UBR1 | c.674G>T (p.Arg225Ile) c.*202+2877G>T (n.*202+2877G>T) | gnomAD v3 gnomAD v4 |
15 | g.43068022C>G | CA392080629 | UBR1 | c.674G>C (p.Arg225Thr) c.*202+2877G>C (n.*202+2877G>C) | COSMIC |
15 | g.43068022C>T | CA392080623 | UBR1 | c.674G>A (p.Arg225Lys) c.*202+2877G>A (n.*202+2877G>A) | gnomAD v4 |
15 | g.43068023T>A | CA392080633 | UBR1 | c.673A>T (p.Arg225Ter) c.*202+2876A>T (n.*202+2876A>T) | |
15 | g.43068023T>C | CA392080631 | UBR1 | c.673A>G (p.Arg225Gly) c.*202+2876A>G (n.*202+2876A>G) | gnomAD v4 |
15 | g.43068023T>G | CA490121070 | UBR1 | c.673A>C (p.Arg225=) c.*202+2876A>C (n.*202+2876A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.43068023T= | CA2173020190 | UBR1 | c.673A= (p.Arg225=) c.*202+2876A= (n.*202+2876A=) | |
15 | g.43068024T>A | CA392080635 | UBR1 | c.672A>T (p.Glu224Asp) c.*202+2875A>T (n.*202+2875A>T) | |
15 | g.43068024T>C | CA490121071 | UBR1 | c.672A>G (p.Glu224=) c.*202+2875A>G (n.*202+2875A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.43068024T>G | CA392080638 | UBR1 | c.672A>C (p.Glu224Asp) c.*202+2875A>C (n.*202+2875A>C) | |
15 | g.43068024T= | CA2173020191 | UBR1 | c.672A= (p.Glu224=) c.*202+2875A= (n.*202+2875A=) | |
15 | g.43068025T>A | CA392080641 | UBR1 | c.671A>T (p.Glu224Val) c.*202+2874A>T (n.*202+2874A>T) | |
15 | g.43068025T>C | CA392080643 | UBR1 | c.671A>G (p.Glu224Gly) c.*202+2874A>G (n.*202+2874A>G) | gnomAD v4 |
15 | g.43068025T>G | CA392080645 | UBR1 | c.671A>C (p.Glu224Ala) c.*202+2874A>C (n.*202+2874A>C) | |
15 | g.43068026C>A | CA392080646 | UBR1 | c.670G>T (p.Glu224Ter) c.*202+2873G>T (n.*202+2873G>T) | gnomAD v3 gnomAD v4 |
15 | g.43068026C= | CA2173020192 | UBR1 | c.670G= (p.Glu224=) c.*202+2873G= (n.*202+2873G=) | |
15 | g.43068026C>G | CA392080648 | UBR1 | c.670G>C (p.Glu224Gln) c.*202+2873G>C (n.*202+2873G>C) | |
15 | g.43068026C>T | CA392080650 | UBR1 | c.670G>A (p.Glu224Lys) c.*202+2873G>A (n.*202+2873G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43068027A>C | CA392080651 | UBR1 | c.669T>G (p.Asn223Lys) c.*202+2872T>G (n.*202+2872T>G) | |
15 | g.43068027A>G | CA490121072 | UBR1 | c.669T>C (p.Asn223=) c.*202+2872T>C (n.*202+2872T>C) | |
15 | g.43068027A>T | CA392080652 | UBR1 | c.669T>A (p.Asn223Lys) c.*202+2872T>A (n.*202+2872T>A) | |
15 | g.43068028T>A | CA392080660 | UBR1 | c.668A>T (p.Asn223Ile) c.*202+2871A>T (n.*202+2871A>T) | |
15 | g.43068028T>C | CA392080658 | UBR1 | c.668A>G (p.Asn223Ser) c.*202+2871A>G (n.*202+2871A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43068028T>G | CA392080656 | UBR1 | c.668A>C (p.Asn223Thr) c.*202+2871A>C (n.*202+2871A>C) | |
15 | g.43068028T= | CA2173020193 | UBR1 | c.668A= (p.Asn223=) c.*202+2871A= (n.*202+2871A=) | |
15 | g.43068029T>A | CA392080662 | UBR1 | c.667A>T (p.Asn223Tyr) c.*202+2870A>T (n.*202+2870A>T) | |
15 | g.43068029T>C | CA392080664 | UBR1 | c.667A>G (p.Asn223Asp) c.*202+2870A>G (n.*202+2870A>G) | |
15 | g.43068029T>G | CA392080666 | UBR1 | c.667A>C (p.Asn223His) c.*202+2870A>C (n.*202+2870A>C) | |
15 | g.43068030T>A | CA392080668 | UBR1 | c.666A>T (p.Lys222Asn) c.*202+2869A>T (n.*202+2869A>T) | |
15 | g.43068030T>C | CA490121073 | UBR1 | c.666A>G (p.Lys222=) c.*202+2869A>G (n.*202+2869A>G) | gnomAD v4 |
15 | g.43068030T>G | CA392080669 | UBR1 | c.666A>C (p.Lys222Asn) c.*202+2869A>C (n.*202+2869A>C) | |
15 | g.43068031T>A | CA392080671 | UBR1 | c.665A>T (p.Lys222Ile) c.*202+2868A>T (n.*202+2868A>T) | gnomAD v4 |
15 | g.43068031T>C | CA392080673 | UBR1 | c.665A>G (p.Lys222Arg) c.*202+2868A>G (n.*202+2868A>G) | |
15 | g.43068031T>G | CA392080675 | UBR1 | c.665A>C (p.Lys222Thr) c.*202+2868A>C (n.*202+2868A>C) | |
15 | g.43068032T>A | CA392080677 | UBR1 | c.664A>T (p.Lys222Ter) c.*202+2867A>T (n.*202+2867A>T) | |
15 | g.43068032T>C | CA392080678 | UBR1 | c.664A>G (p.Lys222Glu) c.*202+2867A>G (n.*202+2867A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.43068032T>G | CA392080679 | UBR1 | c.664A>C (p.Lys222Gln) c.*202+2867A>C (n.*202+2867A>C) | |
15 | g.43068032T= | CA2173020194 | UBR1 | c.664A= (p.Lys222=) c.*202+2867A= (n.*202+2867A=) | |
15 | g.43068033C>A | CA392080683 | UBR1 | c.663G>T (p.Glu221Asp) c.*202+2866G>T (n.*202+2866G>T) | gnomAD v4 |