Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.44275526C>A | CA380182509 | ALX4 | c.599G>T (p.Ser200Ile) c.77G>T (p.Ser26Ile) | |
11 | g.44275526C>G | CA380182510 | ALX4 | c.599G>C (p.Ser200Thr) c.77G>C (p.Ser26Thr) | |
11 | g.44275526C>T | CA380182511 | ALX4 | c.599G>A (p.Ser200Asn) c.77G>A (p.Ser26Asn) | |
11 | g.44275527T>A | CA380182512 | ALX4 | c.598A>T (p.Ser200Cys) c.76A>T (p.Ser26Cys) | |
11 | g.44275527T>C | CA380182513 | ALX4 | c.598A>G (p.Ser200Gly) c.76A>G (p.Ser26Gly) | |
11 | g.44275527T>G | CA380182514 | ALX4 | c.598A>C (p.Ser200Arg) c.76A>C (p.Ser26Arg) | |
11 | g.44275528G>A | CA474035691 | ALX4 | c.597C>T (p.Pro199=) c.75C>T (p.Pro25=) | dbSNP |
11 | g.44275528G>C | CA474035692 | ALX4 | c.597C>G (p.Pro199=) c.75C>G (p.Pro25=) | |
11 | g.44275528G= | CA1967929198 | ALX4 | c.597C= (p.Pro199=) c.75C= (p.Pro25=) | |
11 | g.44275528G>T | CA474035693 | ALX4 | c.597C>A (p.Pro199=) c.75C>A (p.Pro25=) | dbSNP |
11 | g.44275531del | CA2613209298 | ALX4 | c.597del (p.Ser200AlafsTer?) c.75del (p.Ser26AlafsTer?) | gnomAD v4 |
11 | g.44275529G>A | CA5955699 | ALX4 | c.596C>T (p.Pro199Leu) c.74C>T (p.Pro25Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44275529G>C | CA380182516 | ALX4 | c.596C>G (p.Pro199Arg) c.74C>G (p.Pro25Arg) | |
11 | g.44275529G= | CA1967929204 | ALX4 | c.596C= (p.Pro199=) c.74C= (p.Pro25=) | |
11 | g.44275529G>T | CA380182515 | ALX4 | c.596C>A (p.Pro199His) c.74C>A (p.Pro25His) | |
11 | g.44275530G>A | CA380182517 | ALX4 | c.595C>T (p.Pro199Ser) c.73C>T (p.Pro25Ser) | dbSNP gnomAD v4 |
11 | g.44275530G>C | CA380182518 | ALX4 | c.595C>G (p.Pro199Ala) c.73C>G (p.Pro25Ala) | |
11 | g.44275530G= | CA1967929212 | ALX4 | c.595C= (p.Pro199=) c.73C= (p.Pro25=) | |
11 | g.44275530G>T | CA380182519 | ALX4 | c.595C>A (p.Pro199Thr) c.73C>A (p.Pro25Thr) | |
11 | g.44275531G>A | CA474035694 | ALX4 | c.594C>T (p.Leu198=) c.72C>T (p.Leu24=) | |
11 | g.44275531G>C | CA474035695 | ALX4 | c.594C>G (p.Leu198=) c.72C>G (p.Leu24=) | |
11 | g.44275531G= | CA1967929215 | ALX4 | c.594C= (p.Leu198=) c.72C= (p.Leu24=) | |
11 | g.44275531G>T | CA5955700 | ALX4 | c.594C>A (p.Leu198=) c.72C>A (p.Leu24=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.44275532A>C | CA380182520 | ALX4 | c.593T>G (p.Leu198Arg) c.71T>G (p.Leu24Arg) | |
11 | g.44275532A>G | CA380182521 | ALX4 | c.593T>C (p.Leu198Pro) c.71T>C (p.Leu24Pro) | |
11 | g.44275532A>T | CA380182522 | ALX4 | c.593T>A (p.Leu198His) c.71T>A (p.Leu24His) | |
11 | g.44275533G>A | CA380182523 | ALX4 | c.592C>T (p.Leu198Phe) c.70C>T (p.Leu24Phe) | gnomAD v4 |
11 | g.44275533G>C | CA380182524 | ALX4 | c.592C>G (p.Leu198Val) c.70C>G (p.Leu24Val) | |
11 | g.44275533G>T | CA380182525 | ALX4 | c.592C>A (p.Leu198Ile) c.70C>A (p.Leu24Ile) | |
11 | g.44275534G>A | CA474035696 | ALX4 | c.591C>T (p.Asp197=) c.69C>T (p.Asp23=) | |
11 | g.44275534G>C | CA380182526 | ALX4 | c.591C>G (p.Asp197Glu) c.69C>G (p.Asp23Glu) | |
11 | g.44275534G>T | CA380182527 | ALX4 | c.591C>A (p.Asp197Glu) c.69C>A (p.Asp23Glu) | |
11 | g.44275535T>A | CA380182530 | ALX4 | c.590A>T (p.Asp197Val) c.68A>T (p.Asp23Val) | |
11 | g.44275535T>C | CA380182529 | ALX4 | c.590A>G (p.Asp197Gly) c.68A>G (p.Asp23Gly) | |
11 | g.44275535T>G | CA380182528 | ALX4 | c.590A>C (p.Asp197Ala) c.68A>C (p.Asp23Ala) | |
11 | g.44275536C>A | CA380182531 | ALX4 | c.589G>T (p.Asp197Tyr) c.67G>T (p.Asp23Tyr) | |
11 | g.44275536C>G | CA380182533 | ALX4 | c.589G>C (p.Asp197His) c.67G>C (p.Asp23His) | |
11 | g.44275536C>T | CA380182532 | ALX4 | c.589G>A (p.Asp197Asn) c.67G>A (p.Asp23Asn) | |
11 | g.44275537T>A | CA474035697 | ALX4 | c.588A>T (p.Ser196=) c.66A>T (p.Ser22=) | |
11 | g.44275537T>C | CA474035698 | ALX4 | c.588A>G (p.Ser196=) c.66A>G (p.Ser22=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.44275537T>G | CA474035699 | ALX4 | c.588A>C (p.Ser196=) c.66A>C (p.Ser22=) | |
11 | g.44275537T= | CA1967929222 | ALX4 | c.588A= (p.Ser196=) c.66A= (p.Ser22=) | |
11 | g.44275538G>A | CA380182534 | ALX4 | c.587C>T (p.Ser196Leu) c.65C>T (p.Ser22Leu) | |
11 | g.44275538G>C | CA380182536 | ALX4 | c.587C>G (p.Ser196Ter) c.65C>G (p.Ser22Ter) | |
11 | g.44275538G>T | CA380182535 | ALX4 | c.587C>A (p.Ser196Ter) c.65C>A (p.Ser22Ter) | |
11 | g.44275539A>C | CA380182537 | ALX4 | c.586T>G (p.Ser196Ala) c.64T>G (p.Ser22Ala) | |
11 | g.44275539A>G | CA380182539 | ALX4 | c.586T>C (p.Ser196Pro) c.64T>C (p.Ser22Pro) | |
11 | g.44275539A>T | CA380182538 | ALX4 | c.586T>A (p.Ser196Thr) c.64T>A (p.Ser22Thr) | |
11 | g.44275540G>A | CA474035701 | ALX4 | c.585C>T (p.Ser195=) c.63C>T (p.Ser21=) | gnomAD v4 |
11 | g.44275540G>C | CA380182540 | ALX4 | c.585C>G (p.Ser195Arg) c.63C>G (p.Ser21Arg) |