Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.90761037A>C | CA393843559 | BLM | c.1664A>C (p.Asn555Thr) c.*588A>C (n.*588A>C) c.539A>C (p.Asn180Thr) c.350A>C (p.Asn117Thr) | |
15 | g.90761037A>G | CA393843560 | BLM | c.1664A>G (p.Asn555Ser) c.*588A>G (n.*588A>G) c.539A>G (p.Asn180Ser) c.350A>G (p.Asn117Ser) | |
15 | g.90761037A>T | CA393843561 | BLM | c.1664A>T (p.Asn555Ile) c.*588A>T (n.*588A>T) c.539A>T (p.Asn180Ile) c.350A>T (p.Asn117Ile) | |
15 | g.90761038T>A | CA393843562 | BLM | c.1665T>A (p.Asn555Lys) c.*589T>A (n.*589T>A) c.540T>A (p.Asn180Lys) c.351T>A (p.Asn117Lys) | |
15 | g.90761038T>C | CA492301637 | BLM | c.1665T>C (p.Asn555=) c.*589T>C (n.*589T>C) c.540T>C (p.Asn180=) c.351T>C (p.Asn117=) | |
15 | g.90761038T>G | CA393843563 | BLM | c.1665T>G (p.Asn555Lys) c.*589T>G (n.*589T>G) c.540T>G (p.Asn180Lys) c.351T>G (p.Asn117Lys) | |
15 | g.90761039T>A | CA393843566 | BLM | c.1666T>A (p.Phe556Ile) c.*590T>A (n.*590T>A) c.541T>A (p.Phe181Ile) c.352T>A (p.Phe118Ile) | |
15 | g.90761039T>C | CA393843565 | BLM | c.1666T>C (p.Phe556Leu) c.*590T>C (n.*590T>C) c.541T>C (p.Phe181Leu) c.352T>C (p.Phe118Leu) | |
15 | g.90761039T>G | CA393843564 | BLM | c.1666T>G (p.Phe556Val) c.*590T>G (n.*590T>G) c.541T>G (p.Phe181Val) c.352T>G (p.Phe118Val) | |
15 | g.90761040T>A | CA393843569 | BLM | c.1667T>A (p.Phe556Tyr) c.*591T>A (n.*591T>A) c.542T>A (p.Phe181Tyr) c.353T>A (p.Phe118Tyr) | |
15 | g.90761040T>C | CA393843567 | BLM | c.1667T>C (p.Phe556Ser) c.*591T>C (n.*591T>C) c.542T>C (p.Phe181Ser) c.353T>C (p.Phe118Ser) | |
15 | g.90761040T>G | CA393843568 | BLM | c.1667T>G (p.Phe556Cys) c.*591T>G (n.*591T>G) c.542T>G (p.Phe181Cys) c.353T>G (p.Phe118Cys) | |
15 | g.90761041T>A | CA393843570 | BLM | c.1668T>A (p.Phe556Leu) c.*592T>A (n.*592T>A) c.543T>A (p.Phe181Leu) c.354T>A (p.Phe118Leu) | |
15 | g.90761041T>C | CA492301642 | BLM | c.1668T>C (p.Phe556=) c.*592T>C (n.*592T>C) c.543T>C (p.Phe181=) c.354T>C (p.Phe118=) | ClinVar |
15 | g.90761041T>G | CA393843571 | BLM | c.1668T>G (p.Phe556Leu) c.*592T>G (n.*592T>G) c.543T>G (p.Phe181Leu) c.354T>G (p.Phe118Leu) | |
15 | g.90761042G>A | CA393843572 | BLM | c.1669G>A (p.Asp557Asn) c.*593G>A (n.*593G>A) c.544G>A (p.Asp182Asn) c.355G>A (p.Asp119Asn) | |
15 | g.90761042G>C | CA393843573 | BLM | c.1669G>C (p.Asp557His) c.*593G>C (n.*593G>C) c.544G>C (p.Asp182His) c.355G>C (p.Asp119His) | |
15 | g.90761042G>T | CA393843574 | BLM | c.1669G>T (p.Asp557Tyr) c.*593G>T (n.*593G>T) c.544G>T (p.Asp182Tyr) c.355G>T (p.Asp119Tyr) | |
15 | g.90761043A>C | CA393843577 | BLM | c.1670A>C (p.Asp557Ala) c.*594A>C (n.*594A>C) c.545A>C (p.Asp182Ala) c.356A>C (p.Asp119Ala) | |
15 | g.90761043A>G | CA393843575 | BLM | c.1670A>G (p.Asp557Gly) c.*594A>G (n.*594A>G) c.545A>G (p.Asp182Gly) c.356A>G (p.Asp119Gly) | |
15 | g.90761043A>T | CA393843576 | BLM | c.1670A>T (p.Asp557Val) c.*594A>T (n.*594A>T) c.545A>T (p.Asp182Val) c.356A>T (p.Asp119Val) | |
15 | g.90761044C>A | CA393843578 | BLM | c.1671C>A (p.Asp557Glu) c.*595C>A (n.*595C>A) c.546C>A (p.Asp182Glu) c.357C>A (p.Asp119Glu) | |
15 | g.90761044C>G | CA393843579 | BLM | c.1671C>G (p.Asp557Glu) c.*595C>G (n.*595C>G) c.546C>G (p.Asp182Glu) c.357C>G (p.Asp119Glu) | dbSNP |
15 | g.90761044C>T | CA492301646 | BLM | c.1671C>T (p.Asp557=) c.*595C>T (n.*595C>T) c.546C>T (p.Asp182=) c.357C>T (p.Asp119=) | gnomAD v3 gnomAD v4 |
15 | g.90761045A>C | CA393843580 | BLM | c.1672A>C (p.Ile558Leu) c.*596A>C (n.*596A>C) c.547A>C (p.Ile183Leu) c.358A>C (p.Ile120Leu) | |
15 | g.90761045A>G | CA393843581 | BLM | c.1672A>G (p.Ile558Val) c.*596A>G (n.*596A>G) c.547A>G (p.Ile183Val) c.358A>G (p.Ile120Val) | ClinVar gnomAD v4 |
15 | g.90761045A>T | CA393843582 | BLM | c.1672A>T (p.Ile558Leu) c.*596A>T (n.*596A>T) c.547A>T (p.Ile183Leu) c.358A>T (p.Ile120Leu) | |
15 | g.90761046T>A | CA393843585 | BLM | c.1673T>A (p.Ile558Lys) c.*597T>A (n.*597T>A) c.548T>A (p.Ile183Lys) c.359T>A (p.Ile120Lys) | |
15 | g.90761046T>C | CA393843583 | BLM | c.1673T>C (p.Ile558Thr) c.*597T>C (n.*597T>C) c.548T>C (p.Ile183Thr) c.359T>C (p.Ile120Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.90761046T>G | CA393843584 | BLM | c.1673T>G (p.Ile558Arg) c.*597T>G (n.*597T>G) c.548T>G (p.Ile183Arg) c.359T>G (p.Ile120Arg) | |
15 | g.90761046T= | CA2195277167 | BLM | c.1673T= (p.Ile558=) c.*597T= (n.*597T=) c.548T= (p.Ile183=) c.359T= (p.Ile120=) | |
15 | g.90761047A= | CA2195277169 | BLM | c.1674A= (p.Ile558=) c.*598A= (n.*598A=) c.549A= (p.Ile183=) c.360A= (p.Ile120=) | |
15 | g.90761047A>C | CA492301650 | BLM | c.1674A>C (p.Ile558=) c.*598A>C (n.*598A>C) c.549A>C (p.Ile183=) c.360A>C (p.Ile120=) | ClinVar |
15 | g.90761047A>G | CA393843586 | BLM | c.1674A>G (p.Ile558Met) c.*598A>G (n.*598A>G) c.549A>G (p.Ile183Met) c.360A>G (p.Ile120Met) | |
15 | g.90761047A>T | CA7738569 | BLM | c.1674A>T (p.Ile558=) c.*598A>T (n.*598A>T) c.549A>T (p.Ile183=) c.360A>T (p.Ile120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.90761048G>A | CA393843587 | BLM | c.1675G>A (p.Asp559Asn) c.*599G>A (n.*599G>A) c.550G>A (p.Asp184Asn) c.361G>A (p.Asp121Asn) | |
15 | g.90761048G>C | CA393843588 | BLM | c.1675G>C (p.Asp559His) c.*599G>C (n.*599G>C) c.550G>C (p.Asp184His) c.361G>C (p.Asp121His) | dbSNP |
15 | g.90761048G>T | CA393843589 | BLM | c.1675G>T (p.Asp559Tyr) c.*599G>T (n.*599G>T) c.550G>T (p.Asp184Tyr) c.361G>T (p.Asp121Tyr) | |
15 | g.90761048_90761049delinsTT | CA2573151478 | BLM | c.1675_1676delinsTT (p.Asp559Phe) c.*599_*600delinsTT (n.*599_*600delinsTT) c.550_551delinsTT (p.Asp184Phe) c.361_362delinsTT (p.Asp121Phe) | ClinVar dbSNP |
15 | g.90761053_90761064del | CA2739269733 | BLM | c.1680_1691del (p.Phe561_Asp564del) c.*604_*615del (n.*604_*615del) c.555_566del (p.Phe186_Asp189del) c.366_377del (p.Phe123_Asp126del) | ClinVar |
15 | g.90761049A= | CA2195277171 | BLM | c.1676A= (p.Asp559=) c.*600A= (n.*600A=) c.551A= (p.Asp184=) c.362A= (p.Asp121=) | |
15 | g.90761049A>C | CA393843590 | BLM | c.1676A>C (p.Asp559Ala) c.*600A>C (n.*600A>C) c.551A>C (p.Asp184Ala) c.362A>C (p.Asp121Ala) | |
15 | g.90761049A>G | CA393843591 | BLM | c.1676A>G (p.Asp559Gly) c.*600A>G (n.*600A>G) c.551A>G (p.Asp184Gly) c.362A>G (p.Asp121Gly) | ClinVar dbSNP gnomAD v4 |
15 | g.90761049A>T | CA393843592 | BLM | c.1676A>T (p.Asp559Val) c.*600A>T (n.*600A>T) c.551A>T (p.Asp184Val) c.362A>T (p.Asp121Val) | ClinVar dbSNP |
15 | g.90761050T>A | CA7738570 | BLM | c.1677T>A (p.Asp559Glu) c.*601T>A (n.*601T>A) c.552T>A (p.Asp184Glu) c.363T>A (p.Asp121Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.90761050T>C | CA492301656 | BLM | c.1677T>C (p.Asp559=) c.*601T>C (n.*601T>C) c.552T>C (p.Asp184=) c.363T>C (p.Asp121=) | |
15 | g.90761050T>G | CA393843593 | BLM | c.1677T>G (p.Asp559Glu) c.*601T>G (n.*601T>G) c.552T>G (p.Asp184Glu) c.363T>G (p.Asp121Glu) | |
15 | g.90761050T= | CA2195277174 | BLM | c.1677T= (p.Asp559=) c.*601T= (n.*601T=) c.552T= (p.Asp184=) c.363T= (p.Asp121=) | |
15 | g.90761051G>A | CA393843594 | BLM | c.1678G>A (p.Asp560Asn) c.*602G>A (n.*602G>A) c.553G>A (p.Asp185Asn) c.364G>A (p.Asp122Asn) | ClinVar dbSNP |
15 | g.90761051G>C | CA7738571 | BLM | c.1678G>C (p.Asp560His) c.*602G>C (n.*602G>C) c.553G>C (p.Asp185His) c.364G>C (p.Asp122His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |