Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.77335884G>A | CA284409685 | ADAMTS18 | c.1731C>T (p.Cys577=) c.1215C>T (p.Cys405=) c.495C>T (p.Cys165=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.77335884G>C | CA144839 | ADAMTS18 | c.1731C>G (p.Cys577Trp) c.1215C>G (p.Cys405Trp) c.495C>G (p.Cys165Trp) | ClinVar dbSNP gnomAD v4 |
16 | g.77335884G= | CA2234406218 | ADAMTS18 | c.1731C= (p.Cys577=) c.1215C= (p.Cys405=) c.495C= (p.Cys165=) | |
16 | g.77335884G>T | CA396832405 | ADAMTS18 | c.1731C>A (p.Cys577Ter) c.1215C>A (p.Cys405Ter) c.495C>A (p.Cys165Ter) | COSMIC |
16 | g.77335885C>A | CA396832407 | ADAMTS18 | c.1730G>T (p.Cys577Phe) c.1214G>T (p.Cys405Phe) c.494G>T (p.Cys165Phe) | |
16 | g.77335885C= | CA2234406224 | ADAMTS18 | c.1730G= (p.Cys577=) c.1214G= (p.Cys405=) c.494G= (p.Cys165=) | |
16 | g.77335885C>G | CA396832410 | ADAMTS18 | c.1730G>C (p.Cys577Ser) c.1214G>C (p.Cys405Ser) c.494G>C (p.Cys165Ser) | |
16 | g.77335885C>T | CA396832413 | ADAMTS18 | c.1730G>A (p.Cys577Tyr) c.1214G>A (p.Cys405Tyr) c.494G>A (p.Cys165Tyr) | ClinVar dbSNP |
16 | g.77335886A= | CA2234406231 | ADAMTS18 | c.1729T= (p.Cys577=) c.1213T= (p.Cys405=) c.493T= (p.Cys165=) | |
16 | g.77335886A>C | CA396832415 | ADAMTS18 | c.1729T>G (p.Cys577Gly) c.1213T>G (p.Cys405Gly) c.493T>G (p.Cys165Gly) | |
16 | g.77335886A>G | CA8181178 | ADAMTS18 | c.1729T>C (p.Cys577Arg) c.1213T>C (p.Cys405Arg) c.493T>C (p.Cys165Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.77335886A>T | CA396832418 | ADAMTS18 | c.1729T>A (p.Cys577Ser) c.1213T>A (p.Cys405Ser) c.493T>A (p.Cys165Ser) | |
16 | g.77335887C>A | CA284409701 | ADAMTS18 | c.1728G>T (p.Gln576His) c.1212G>T (p.Gln404His) c.492G>T (p.Gln164His) | dbSNP |
16 | g.77335887C= | CA2234406239 | ADAMTS18 | c.1728G= (p.Gln576=) c.1212G= (p.Gln404=) c.492G= (p.Gln164=) | |
16 | g.77335887C>G | CA396832421 | ADAMTS18 | c.1728G>C (p.Gln576His) c.1212G>C (p.Gln404His) c.492G>C (p.Gln164His) | |
16 | g.77335887C>T | CA496590745 | ADAMTS18 | c.1728G>A (p.Gln576=) c.1212G>A (p.Gln404=) c.492G>A (p.Gln164=) | |
16 | g.77335888T>A | CA396832425 | ADAMTS18 | c.1727A>T (p.Gln576Leu) c.1211A>T (p.Gln404Leu) c.491A>T (p.Gln164Leu) | |
16 | g.77335888T>C | CA396832427 | ADAMTS18 | c.1727A>G (p.Gln576Arg) c.1211A>G (p.Gln404Arg) c.491A>G (p.Gln164Arg) | ClinVar dbSNP |
16 | g.77335888T>G | CA396832429 | ADAMTS18 | c.1727A>C (p.Gln576Pro) c.1211A>C (p.Gln404Pro) c.491A>C (p.Gln164Pro) | |
16 | g.77335889G>A | CA396832432 | ADAMTS18 | c.1726C>T (p.Gln576Ter) c.1210C>T (p.Gln404Ter) c.490C>T (p.Gln164Ter) | gnomAD v4 |
16 | g.77335889G>C | CA396832431 | ADAMTS18 | c.1726C>G (p.Gln576Glu) c.1210C>G (p.Gln404Glu) c.490C>G (p.Gln164Glu) | |
16 | g.77335889G>T | CA396832430 | ADAMTS18 | c.1726C>A (p.Gln576Lys) c.1210C>A (p.Gln404Lys) c.490C>A (p.Gln164Lys) | |
16 | g.77335890G>A | CA496590757 | ADAMTS18 | c.1725C>T (p.Gly575=) c.1209C>T (p.Gly403=) c.489C>T (p.Gly163=) | COSMIC |
16 | g.77335890G>C | CA496590758 | ADAMTS18 | c.1725C>G (p.Gly575=) c.1209C>G (p.Gly403=) c.489C>G (p.Gly163=) | dbSNP gnomAD v2 |
16 | g.77335890G= | CA2234406242 | ADAMTS18 | c.1725C= (p.Gly575=) c.1209C= (p.Gly403=) c.489C= (p.Gly163=) | |
16 | g.77335890G>T | CA496590761 | ADAMTS18 | c.1725C>A (p.Gly575=) c.1209C>A (p.Gly403=) c.489C>A (p.Gly163=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.77335891C>A | CA396832434 | ADAMTS18 | c.1724G>T (p.Gly575Val) c.1208G>T (p.Gly403Val) c.488G>T (p.Gly163Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.77335891C= | CA2234406246 | ADAMTS18 | c.1724G= (p.Gly575=) c.1208G= (p.Gly403=) c.488G= (p.Gly163=) | |
16 | g.77335891C>G | CA396832438 | ADAMTS18 | c.1724G>C (p.Gly575Ala) c.1208G>C (p.Gly403Ala) c.488G>C (p.Gly163Ala) | |
16 | g.77335891C>T | CA284409709 | ADAMTS18 | c.1724G>A (p.Gly575Asp) c.1208G>A (p.Gly403Asp) c.488G>A (p.Gly163Asp) | dbSNP |
16 | g.77335892C>A | CA396832440 | ADAMTS18 | c.1723G>T (p.Gly575Cys) c.1207G>T (p.Gly403Cys) c.487G>T (p.Gly163Cys) | |
16 | g.77335892C= | CA2234406251 | ADAMTS18 | c.1723G= (p.Gly575=) c.1207G= (p.Gly403=) c.487G= (p.Gly163=) | |
16 | g.77335892C>G | CA396832443 | ADAMTS18 | c.1723G>C (p.Gly575Arg) c.1207G>C (p.Gly403Arg) c.487G>C (p.Gly163Arg) | gnomAD v4 |
16 | g.77335892C>T | CA8181179 | ADAMTS18 | c.1723G>A (p.Gly575Ser) c.1207G>A (p.Gly403Ser) c.487G>A (p.Gly163Ser) | dbSNP ExAC gnomAD v2 |
16 | g.77335893T>A | CA396832448 | ADAMTS18 | c.1722A>T (p.Gln574His) c.1206A>T (p.Gln402His) c.486A>T (p.Gln162His) | |
16 | g.77335893T>C | CA496590772 | ADAMTS18 | c.1722A>G (p.Gln574=) c.1206A>G (p.Gln402=) c.486A>G (p.Gln162=) | |
16 | g.77335893T>G | CA396832450 | ADAMTS18 | c.1722A>C (p.Gln574His) c.1206A>C (p.Gln402His) c.486A>C (p.Gln162His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.77335893T= | CA2234406254 | ADAMTS18 | c.1722A= (p.Gln574=) c.1206A= (p.Gln402=) c.486A= (p.Gln162=) | |
16 | g.77335894T>A | CA396832453 | ADAMTS18 | c.1721A>T (p.Gln574Leu) c.1205A>T (p.Gln402Leu) c.485A>T (p.Gln162Leu) | |
16 | g.77335894T>C | CA396832456 | ADAMTS18 | c.1721A>G (p.Gln574Arg) c.1205A>G (p.Gln402Arg) c.485A>G (p.Gln162Arg) | |
16 | g.77335894T>G | CA396832459 | ADAMTS18 | c.1721A>C (p.Gln574Pro) c.1205A>C (p.Gln402Pro) c.485A>C (p.Gln162Pro) | |
16 | g.77335895G>A | CA396832462 | ADAMTS18 | c.1720C>T (p.Gln574Ter) c.1204C>T (p.Gln402Ter) c.484C>T (p.Gln162Ter) | |
16 | g.77335895G>C | CA396832466 | ADAMTS18 | c.1720C>G (p.Gln574Glu) c.1204C>G (p.Gln402Glu) c.484C>G (p.Gln162Glu) | gnomAD v4 |
16 | g.77335895G>T | CA396832467 | ADAMTS18 | c.1720C>A (p.Gln574Lys) c.1204C>A (p.Gln402Lys) c.484C>A (p.Gln162Lys) | |
16 | g.77335895_77335901delinsGCCGACA | CA2234406257 | ADAMTS18 | c.1714_1720delinsTGTCGGC (p.Cys572=) c.1198_1204delinsTGTCGGC (p.Cys400=) c.478_484delinsTGTCGGC (p.Cys160=) | |
16 | g.77335896C>A | CA8181180 | ADAMTS18 | c.1719G>T (p.Arg573=) c.1203G>T (p.Arg401=) c.483G>T (p.Arg161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.77335896C= | CA2234406267 | ADAMTS18 | c.1719G= (p.Arg573=) c.1203G= (p.Arg401=) c.483G= (p.Arg161=) | |
16 | g.77335896C>G | CA496590784 | ADAMTS18 | c.1719G>C (p.Arg573=) c.1203G>C (p.Arg401=) c.483G>C (p.Arg161=) | |
16 | g.77335896C>T | CA496590787 | ADAMTS18 | c.1719G>A (p.Arg573=) c.1203G>A (p.Arg401=) c.483G>A (p.Arg161=) | |
16 | g.77335898_77335903del | CA724129857 | ADAMTS18 | c.1714_1719del (p.Cys572_Arg573del) c.1198_1203del (p.Cys400_Arg401del) c.478_483del (p.Cys160_Arg161del) | dbSNP gnomAD v3 gnomAD v4 |