Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.39446809A>C | CA356657300 | KLB | c.2083A>C (p.Asn695His) c.2056A>C (p.Asn686His) | |
4 | g.39446809A>G | CA356657301 | KLB | c.2083A>G (p.Asn695Asp) c.2056A>G (p.Asn686Asp) | |
4 | g.39446809A>T | CA356657302 | KLB | c.2083A>T (p.Asn695Tyr) c.2056A>T (p.Asn686Tyr) | |
4 | g.39446810A>C | CA356657303 | KLB | c.2084A>C (p.Asn695Thr) c.2057A>C (p.Asn686Thr) | |
4 | g.39446810A>G | CA356657304 | KLB | c.2084A>G (p.Asn695Ser) c.2057A>G (p.Asn686Ser) | |
4 | g.39446810A>T | CA356657305 | KLB | c.2084A>T (p.Asn695Ile) c.2057A>T (p.Asn686Ile) | |
4 | g.39446811C>A | CA356657307 | KLB | c.2085C>A (p.Asn695Lys) c.2058C>A (p.Asn686Lys) | |
4 | g.39446811C= | CA1452131050 | KLB | c.2085C= (p.Asn695=) c.2058C= (p.Asn686=) | |
4 | g.39446811C>G | CA356657306 | KLB | c.2085C>G (p.Asn695Lys) c.2058C>G (p.Asn686Lys) | |
4 | g.39446811C>T | CA2893935 | KLB | c.2085C>T (p.Asn695=) c.2058C>T (p.Asn686=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.39446812C>A | CA439138143 | KLB | c.2086C>A (p.Arg696=) c.2059C>A (p.Arg687=) | gnomAD v4 |
4 | g.39446812C>G | CA356657308 | KLB | c.2086C>G (p.Arg696Gly) c.2059C>G (p.Arg687Gly) | |
4 | g.39446812C>T | CA356657309 | KLB | c.2086C>T (p.Arg696Trp) c.2059C>T (p.Arg687Trp) | gnomAD v4 |
4 | g.39446813G>A | CA356657310 | KLB | c.2087G>A (p.Arg696Gln) c.2060G>A (p.Arg687Gln) | gnomAD v4 |
4 | g.39446813G>C | CA356657311 | KLB | c.2087G>C (p.Arg696Pro) c.2060G>C (p.Arg687Pro) | |
4 | g.39446813G>T | CA356657312 | KLB | c.2087G>T (p.Arg696Leu) c.2060G>T (p.Arg687Leu) | gnomAD v4 |
4 | g.39446814G>A | CA2893936 | KLB | c.2088G>A (p.Arg696=) c.2061G>A (p.Arg687=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.39446814G>C | CA439138150 | KLB | c.2088G>C (p.Arg696=) c.2061G>C (p.Arg687=) | gnomAD v4 |
4 | g.39446814G= | CA1452131051 | KLB | c.2088G= (p.Arg696=) c.2061G= (p.Arg687=) | |
4 | g.39446814G>T | CA439138149 | KLB | c.2088G>T (p.Arg696=) c.2061G>T (p.Arg687=) | gnomAD v4 |
4 | g.39446815C>A | CA356657313 | KLB | c.2089C>A (p.Leu697Ile) c.2062C>A (p.Leu688Ile) | |
4 | g.39446815C>G | CA356657314 | KLB | c.2089C>G (p.Leu697Val) c.2062C>G (p.Leu688Val) | gnomAD v4 |
4 | g.39446815C>T | CA439138153 | KLB | c.2089C>T (p.Leu697=) c.2062C>T (p.Leu688=) | |
4 | g.39446816T>A | CA356657315 | KLB | c.2090T>A (p.Leu697Gln) c.2063T>A (p.Leu688Gln) | |
4 | g.39446816T>C | CA356657316 | KLB | c.2090T>C (p.Leu697Pro) c.2063T>C (p.Leu688Pro) | |
4 | g.39446816T>G | CA356657317 | KLB | c.2090T>G (p.Leu697Arg) c.2063T>G (p.Leu688Arg) | |
4 | g.39446817A>C | CA439138154 | KLB | c.2091A>C (p.Leu697=) c.2064A>C (p.Leu688=) | |
4 | g.39446817A>G | CA439138155 | KLB | c.2091A>G (p.Leu697=) c.2064A>G (p.Leu688=) | |
4 | g.39446817A>T | CA439138156 | KLB | c.2091A>T (p.Leu697=) c.2064A>T (p.Leu688=) | |
4 | g.39446818A>C | CA356657320 | KLB | c.2092A>C (p.Ser698Arg) c.2065A>C (p.Ser689Arg) | |
4 | g.39446818A>G | CA356657319 | KLB | c.2092A>G (p.Ser698Gly) c.2065A>G (p.Ser689Gly) | |
4 | g.39446818A>T | CA356657318 | KLB | c.2092A>T (p.Ser698Cys) c.2065A>T (p.Ser689Cys) | |
4 | g.39446819G>A | CA356657321 | KLB | c.2093G>A (p.Ser698Asn) c.2066G>A (p.Ser689Asn) | gnomAD v4 |
4 | g.39446819G>C | CA2893937 | KLB | c.2093G>C (p.Ser698Thr) c.2066G>C (p.Ser689Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
4 | g.39446819G= | CA1452131052 | KLB | c.2093G= (p.Ser698=) c.2066G= (p.Ser689=) | |
4 | g.39446819G>T | CA356657322 | KLB | c.2093G>T (p.Ser698Ile) c.2066G>T (p.Ser689Ile) | |
4 | g.39446820T>A | CA356657323 | KLB | c.2094T>A (p.Ser698Arg) c.2067T>A (p.Ser689Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.39446820T>C | CA439138158 | KLB | c.2094T>C (p.Ser698=) c.2067T>C (p.Ser689=) | |
4 | g.39446820T>G | CA356657324 | KLB | c.2094T>G (p.Ser698Arg) c.2067T>G (p.Ser689Arg) | |
4 | g.39446820T= | CA1452131053 | KLB | c.2094T= (p.Ser698=) c.2067T= (p.Ser689=) | |
4 | g.39446821G>A | CA356657325 | KLB | c.2095G>A (p.Asp699Asn) c.2068G>A (p.Asp690Asn) | dbSNP |
4 | g.39446821G>C | CA356657326 | KLB | c.2095G>C (p.Asp699His) c.2068G>C (p.Asp690His) | |
4 | g.39446821G= | CA1452131054 | KLB | c.2095G= (p.Asp699=) c.2068G= (p.Asp690=) | |
4 | g.39446821G>T | CA356657327 | KLB | c.2095G>T (p.Asp699Tyr) c.2068G>T (p.Asp690Tyr) | gnomAD v4 |
4 | g.39446822A>C | CA356657328 | KLB | c.2096A>C (p.Asp699Ala) c.2069A>C (p.Asp690Ala) | |
4 | g.39446822A>G | CA356657329 | KLB | c.2096A>G (p.Asp699Gly) c.2069A>G (p.Asp690Gly) | |
4 | g.39446822A>T | CA356657330 | KLB | c.2096A>T (p.Asp699Val) c.2069A>T (p.Asp690Val) | |
4 | g.39446823C>A | CA356657331 | KLB | c.2097C>A (p.Asp699Glu) c.2070C>A (p.Asp690Glu) | |
4 | g.39446823C>G | CA356657332 | KLB | c.2097C>G (p.Asp699Glu) c.2070C>G (p.Asp690Glu) | |
4 | g.39446823C>T | CA439138161 | KLB | c.2097C>T (p.Asp699=) c.2070C>T (p.Asp690=) |