Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89206897_89214258del | CA645509196 | ClinVar | ||
15 | g.89210794G>A | CA122839 | RLBP1 | c.700C>T (p.Arg234Trp) c.102-30C>T c.*278C>T (n.*278C>T) c.625C>T (p.Arg209Trp) c.727C>T (p.Arg243Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89210794G>C | CA393728912 | RLBP1 | c.700C>G (p.Arg234Gly) c.102-30C>G c.*278C>G (n.*278C>G) c.625C>G (p.Arg209Gly) c.727C>G (p.Arg243Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89210794G= | CA2194508455 | RLBP1 | c.700C= (p.Arg234=) c.102-30C= c.*278C= (n.*278C=) c.625C= (p.Arg209=) c.727C= (p.Arg243=) | |
15 | g.89210794G>T | CA492075527 | RLBP1 | c.700C>A (p.Arg234=) c.102-30C>A c.*278C>A (n.*278C>A) c.625C>A (p.Arg209=) c.727C>A (p.Arg243=) | gnomAD v4 |
15 | g.89210795G>A | CA492075529 | RLBP1 | c.699C>T (p.Ala233=) c.102-31C>T c.*277C>T (n.*277C>T) c.624C>T (p.Ala208=) c.726C>T (p.Ala242=) | ClinVar dbSNP gnomAD v2 |
15 | g.89210795G>C | CA492075532 | RLBP1 | c.699C>G (p.Ala233=) c.102-31C>G c.*277C>G (n.*277C>G) c.624C>G (p.Ala208=) c.726C>G (p.Ala242=) | gnomAD v4 |
15 | g.89210795G= | CA2194508459 | RLBP1 | c.699C= (p.Ala233=) c.102-31C= c.*277C= (n.*277C=) c.624C= (p.Ala208=) c.726C= (p.Ala242=) | |
15 | g.89210795G>T | CA7722209 | RLBP1 | c.699C>A (p.Ala233=) c.102-31C>A c.*277C>A (n.*277C>A) c.624C>A (p.Ala208=) c.726C>A (p.Ala242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89210796G>A | CA393728913 | RLBP1 | c.698C>T (p.Ala233Val) c.102-32C>T c.*276C>T (n.*276C>T) c.623C>T (p.Ala208Val) c.725C>T (p.Ala242Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89210796G>C | CA393728915 | RLBP1 | c.698C>G (p.Ala233Gly) c.102-32C>G c.*276C>G (n.*276C>G) c.623C>G (p.Ala208Gly) c.725C>G (p.Ala242Gly) | |
15 | g.89210796G= | CA2194508464 | RLBP1 | c.698C= (p.Ala233=) c.102-32C= c.*276C= (n.*276C=) c.623C= (p.Ala208=) c.725C= (p.Ala242=) | |
15 | g.89210796G>T | CA393728914 | RLBP1 | c.698C>A (p.Ala233Asp) c.102-32C>A c.*276C>A (n.*276C>A) c.623C>A (p.Ala208Asp) c.725C>A (p.Ala242Asp) | gnomAD v4 |
15 | g.89210797C>A | CA393728916 | RLBP1 | c.697G>T (p.Ala233Ser) c.102-33G>T c.*275G>T (n.*275G>T) c.622G>T (p.Ala208Ser) c.724G>T (p.Ala242Ser) | gnomAD v4 |
15 | g.89210797C>G | CA393728917 | RLBP1 | c.697G>C (p.Ala233Pro) c.102-33G>C c.*275G>C (n.*275G>C) c.622G>C (p.Ala208Pro) c.724G>C (p.Ala242Pro) | |
15 | g.89210797C>T | CA393728918 | RLBP1 | c.697G>A (p.Ala233Thr) c.102-33G>A c.*275G>A (n.*275G>A) c.622G>A (p.Ala208Thr) c.724G>A (p.Ala242Thr) | |
15 | g.89210798T>A | CA492075544 | RLBP1 | c.696A>T (p.Pro232=) c.102-34A>T c.*274A>T (n.*274A>T) c.621A>T (p.Pro207=) c.723A>T (p.Pro241=) | |
15 | g.89210798T>C | CA492075545 | RLBP1 | c.696A>G (p.Pro232=) c.102-34A>G c.*274A>G (n.*274A>G) c.621A>G (p.Pro207=) c.723A>G (p.Pro241=) | |
15 | g.89210798T>G | CA492075547 | RLBP1 | c.696A>C (p.Pro232=) c.102-34A>C c.*274A>C (n.*274A>C) c.621A>C (p.Pro207=) c.723A>C (p.Pro241=) | |
15 | g.89210799G>A | CA393728919 | RLBP1 | c.695C>T (p.Pro232Leu) c.102-35C>T c.*273C>T (n.*273C>T) c.620C>T (p.Pro207Leu) c.722C>T (p.Pro241Leu) | gnomAD v4 |
15 | g.89210799G>C | CA393728920 | RLBP1 | c.695C>G (p.Pro232Arg) c.102-35C>G c.*273C>G (n.*273C>G) c.620C>G (p.Pro207Arg) c.722C>G (p.Pro241Arg) | |
15 | g.89210799G= | CA2194508473 | RLBP1 | c.695C= (p.Pro232=) c.102-35C= c.*273C= (n.*273C=) c.620C= (p.Pro207=) c.722C= (p.Pro241=) | |
15 | g.89210799G>T | CA393728921 | RLBP1 | c.695C>A (p.Pro232Gln) c.102-35C>A c.*273C>A (n.*273C>A) c.620C>A (p.Pro207Gln) c.722C>A (p.Pro241Gln) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89210801del | CA2575831846 | RLBP1 | c.695del (p.Pro232GlnfsTer27) c.102-35del c.*273del (n.*273del) c.620del (p.Pro207GlnfsTer27) c.722del (p.Pro241GlnfsTer27) | |
15 | g.89210800G>A | CA393728922 | RLBP1 | c.694C>T (p.Pro232Ser) c.102-36C>T c.*272C>T (n.*272C>T) c.619C>T (p.Pro207Ser) c.721C>T (p.Pro241Ser) | gnomAD v4 |
15 | g.89210800G>C | CA393728923 | RLBP1 | c.694C>G (p.Pro232Ala) c.102-36C>G c.*272C>G (n.*272C>G) c.619C>G (p.Pro207Ala) c.721C>G (p.Pro241Ala) | |
15 | g.89210800G>T | CA393728924 | RLBP1 | c.694C>A (p.Pro232Thr) c.102-36C>A c.*272C>A (n.*272C>A) c.619C>A (p.Pro207Thr) c.721C>A (p.Pro241Thr) | gnomAD v4 |
15 | g.89210801G>A | CA492075572 | RLBP1 | c.693C>T (p.Phe231=) c.102-37C>T c.*271C>T (n.*271C>T) c.618C>T (p.Phe206=) c.720C>T (p.Phe240=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89210801G>C | CA393728925 | RLBP1 | c.693C>G (p.Phe231Leu) c.102-37C>G c.*271C>G (n.*271C>G) c.618C>G (p.Phe206Leu) c.720C>G (p.Phe240Leu) | |
15 | g.89210801G= | CA2194508483 | RLBP1 | c.693C= (p.Phe231=) c.102-37C= c.*271C= (n.*271C=) c.618C= (p.Phe206=) c.720C= (p.Phe240=) | |
15 | g.89210801G>T | CA393728926 | RLBP1 | c.693C>A (p.Phe231Leu) c.102-37C>A c.*271C>A (n.*271C>A) c.618C>A (p.Phe206Leu) c.720C>A (p.Phe240Leu) | gnomAD v4 |
15 | g.89210802A>C | CA393728927 | RLBP1 | c.692T>G (p.Phe231Cys) c.102-38T>G c.*270T>G (n.*270T>G) c.617T>G (p.Phe206Cys) c.719T>G (p.Phe240Cys) | |
15 | g.89210802A>G | CA393728929 | RLBP1 | c.692T>C (p.Phe231Ser) c.102-38T>C c.*270T>C (n.*270T>C) c.617T>C (p.Phe206Ser) c.719T>C (p.Phe240Ser) | |
15 | g.89210802A>T | CA393728928 | RLBP1 | c.692T>A (p.Phe231Tyr) c.102-38T>A c.*270T>A (n.*270T>A) c.617T>A (p.Phe206Tyr) c.719T>A (p.Phe240Tyr) | |
15 | g.89210803A>C | CA393728930 | RLBP1 | c.691T>G (p.Phe231Val) c.102-39T>G c.*269T>G (n.*269T>G) c.616T>G (p.Phe206Val) c.718T>G (p.Phe240Val) | |
15 | g.89210803A>G | CA393728932 | RLBP1 | c.691T>C (p.Phe231Leu) c.102-39T>C c.*269T>C (n.*269T>C) c.616T>C (p.Phe206Leu) c.718T>C (p.Phe240Leu) | gnomAD v4 |
15 | g.89210803A>T | CA393728931 | RLBP1 | c.691T>A (p.Phe231Ile) c.102-39T>A c.*269T>A (n.*269T>A) c.616T>A (p.Phe206Ile) c.718T>A (p.Phe240Ile) | |
15 | g.89210804G>A | CA492075579 | RLBP1 | c.690C>T (p.Ser230=) c.102-40C>T c.*268C>T (n.*268C>T) c.615C>T (p.Ser205=) c.717C>T (p.Ser239=) | |
15 | g.89210804G>C | CA492075580 | RLBP1 | c.690C>G (p.Ser230=) c.102-40C>G c.*268C>G (n.*268C>G) c.615C>G (p.Ser205=) c.717C>G (p.Ser239=) | gnomAD v4 |
15 | g.89210804G>T | CA492075581 | RLBP1 | c.690C>A (p.Ser230=) c.102-40C>A c.*268C>A (n.*268C>A) c.615C>A (p.Ser205=) c.717C>A (p.Ser239=) | COSMIC |
15 | g.89210805G>A | CA393728933 | RLBP1 | c.689C>T (p.Ser230Phe) c.102-41C>T c.*267C>T (n.*267C>T) c.614C>T (p.Ser205Phe) c.716C>T (p.Ser239Phe) | gnomAD v4 |
15 | g.89210805G>C | CA393728935 | RLBP1 | c.689C>G (p.Ser230Cys) c.102-41C>G c.*267C>G (n.*267C>G) c.614C>G (p.Ser205Cys) c.716C>G (p.Ser239Cys) | |
15 | g.89210805G>T | CA393728934 | RLBP1 | c.689C>A (p.Ser230Tyr) c.102-41C>A c.*267C>A (n.*267C>A) c.614C>A (p.Ser205Tyr) c.716C>A (p.Ser239Tyr) | |
15 | g.89210806A= | CA2194508491 | RLBP1 | c.688T= (p.Ser230=) c.102-42T= c.*266T= (n.*266T=) c.613T= (p.Ser205=) c.715T= (p.Ser239=) | |
15 | g.89210806A>C | CA393728936 | RLBP1 | c.688T>G (p.Ser230Ala) c.102-42T>G c.*266T>G (n.*266T>G) c.613T>G (p.Ser205Ala) c.715T>G (p.Ser239Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89210806A>G | CA393728938 | RLBP1 | c.688T>C (p.Ser230Pro) c.102-42T>C c.*266T>C (n.*266T>C) c.613T>C (p.Ser205Pro) c.715T>C (p.Ser239Pro) | |
15 | g.89210806A>T | CA393728937 | RLBP1 | c.688T>A (p.Ser230Thr) c.102-42T>A c.*266T>A (n.*266T>A) c.613T>A (p.Ser205Thr) c.715T>A (p.Ser239Thr) | ClinVar |
15 | g.89210807A= | CA2194508494 | RLBP1 | c.687T= (p.Asp229=) c.102-43T= c.*265T= (n.*265T=) c.612T= (p.Asp204=) c.714T= (p.Asp238=) | |
15 | g.89210807A>C | CA393728939 | RLBP1 | c.687T>G (p.Asp229Glu) c.102-43T>G c.*265T>G (n.*265T>G) c.612T>G (p.Asp204Glu) c.714T>G (p.Asp238Glu) | |
15 | g.89210807A>G | CA492075595 | RLBP1 | c.687T>C (p.Asp229=) c.102-43T>C c.*265T>C (n.*265T>C) c.612T>C (p.Asp204=) c.714T>C (p.Asp238=) | dbSNP gnomAD v3 gnomAD v4 |