Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
4 | g.39446824A>C | CA356657335 | KLB | c.2098A>C (p.Ile700Leu) c.2071A>C (p.Ile691Leu) | |
4 | g.39446824A>G | CA356657334 | KLB | c.2098A>G (p.Ile700Val) c.2071A>G (p.Ile691Val) | |
4 | g.39446824A>T | CA356657333 | KLB | c.2098A>T (p.Ile700Phe) c.2071A>T (p.Ile691Phe) | |
4 | g.39446825T>A | CA356657336 | KLB | c.2099T>A (p.Ile700Asn) c.2072T>A (p.Ile691Asn) | |
4 | g.39446825T>C | CA356657337 | KLB | c.2099T>C (p.Ile700Thr) c.2072T>C (p.Ile691Thr) | |
4 | g.39446825T>G | CA356657338 | KLB | c.2099T>G (p.Ile700Ser) c.2072T>G (p.Ile691Ser) | |
4 | g.39446826C>A | CA95711785 | KLB | c.2100C>A (p.Ile700=) c.2073C>A (p.Ile691=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.39446826C= | CA1452131055 | KLB | c.2100C= (p.Ile700=) c.2073C= (p.Ile691=) | |
4 | g.39446826C>G | CA356657339 | KLB | c.2100C>G (p.Ile700Met) c.2073C>G (p.Ile691Met) | gnomAD v4 |
4 | g.39446826C>T | CA2893938 | KLB | c.2100C>T (p.Ile700=) c.2073C>T (p.Ile691=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.39446827T>A | CA356657340 | KLB | c.2101T>A (p.Tyr701Asn) c.2074T>A (p.Tyr692Asn) | |
4 | g.39446827T>C | CA356657341 | KLB | c.2101T>C (p.Tyr701His) c.2074T>C (p.Tyr692His) | |
4 | g.39446827T>G | CA356657342 | KLB | c.2101T>G (p.Tyr701Asp) c.2074T>G (p.Tyr692Asp) | |
4 | g.39446828A>C | CA356657343 | KLB | c.2102A>C (p.Tyr701Ser) c.2075A>C (p.Tyr692Ser) | |
4 | g.39446828A>G | CA356657344 | KLB | c.2102A>G (p.Tyr701Cys) c.2075A>G (p.Tyr692Cys) | |
4 | g.39446828A>T | CA356657345 | KLB | c.2102A>T (p.Tyr701Phe) c.2075A>T (p.Tyr692Phe) | |
4 | g.39446829C>A | CA356657346 | KLB | c.2103C>A (p.Tyr701Ter) c.2076C>A (p.Tyr692Ter) | |
4 | g.39446829C= | CA1452131056 | KLB | c.2103C= (p.Tyr701=) c.2076C= (p.Tyr692=) | |
4 | g.39446829C>G | CA356657347 | KLB | c.2103C>G (p.Tyr701Ter) c.2076C>G (p.Tyr692Ter) | |
4 | g.39446829C>T | CA2893939 | KLB | c.2103C>T (p.Tyr701=) c.2076C>T (p.Tyr692=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.39446830A= | CA1452131057 | KLB | c.2104A= (p.Asn702=) c.2077A= (p.Asn693=) | |
4 | g.39446830A>C | CA356657349 | KLB | c.2104A>C (p.Asn702His) c.2077A>C (p.Asn693His) | |
4 | g.39446830A>G | CA2893940 | KLB | c.2104A>G (p.Asn702Asp) c.2077A>G (p.Asn693Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.39446830A>T | CA356657348 | KLB | c.2104A>T (p.Asn702Tyr) c.2077A>T (p.Asn693Tyr) | |
4 | g.39446831del | CA2578069610 | KLB | c.2105del (p.Asn702ThrfsTer?) c.2078del (p.Asn693ThrfsTer?) | |
4 | g.39446831A>C | CA356657350 | KLB | c.2105A>C (p.Asn702Thr) c.2078A>C (p.Asn693Thr) | |
4 | g.39446831A>G | CA356657351 | KLB | c.2105A>G (p.Asn702Ser) c.2078A>G (p.Asn693Ser) | |
4 | g.39446831A>T | CA356657352 | KLB | c.2105A>T (p.Asn702Ile) c.2078A>T (p.Asn693Ile) | |
4 | g.39446832C>A | CA356657353 | KLB | c.2106C>A (p.Asn702Lys) c.2079C>A (p.Asn693Lys) | |
4 | g.39446832C>G | CA356657354 | KLB | c.2106C>G (p.Asn702Lys) c.2079C>G (p.Asn693Lys) | |
4 | g.39446832C>T | CA439138171 | KLB | c.2106C>T (p.Asn702=) c.2079C>T (p.Asn693=) | |
4 | g.39446833C>A | CA356657355 | KLB | c.2107C>A (p.Arg703Ser) c.2080C>A (p.Arg694Ser) | gnomAD v4 |