| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.15480736C>A | CA438382679 | CC2D2A | c.156C>A (p.Ser52=) c.9C>A (p.Ser3=) c.*44C>A (n.*44C>A) c.262C>A (p.Arg88=) n.336C>A n.311C>A c.139C>A (p.Arg47=) n.356C>A | |
| 4 | g.15480736C= | CA1440665121 | CC2D2A | c.156C= (p.Ser52=) c.9C= (p.Ser3=) c.*44C= (n.*44C=) c.262C= (p.Arg88=) n.336C= n.311C= c.139C= (p.Arg47=) n.356C= | |
| 4 | g.15480736C>G | CA356407576 | CC2D2A | c.156C>G (p.Ser52=) c.9C>G (p.Ser3=) c.*44C>G (n.*44C>G) c.262C>G (p.Arg88Gly) n.336C>G n.311C>G c.139C>G (p.Arg47Gly) n.356C>G | |
| 4 | g.15480736C>T | CA150852 | CC2D2A | c.156C>T (p.Ser52=) c.9C>T (p.Ser3=) c.*44C>T (n.*44C>T) c.262C>T (p.Arg88Ter) n.336C>T n.311C>T c.139C>T (p.Arg47Ter) n.356C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15480737G>A | CA2863295 | CC2D2A | c.157G>A (p.Glu53Lys) c.10G>A (p.Glu4Lys) c.*45G>A (n.*45G>A) c.263G>A (p.Arg88Gln) n.337G>A n.312G>A c.140G>A (p.Arg47Gln) n.357G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15480737G>C | CA356407577 | CC2D2A | c.157G>C (p.Glu53Gln) c.10G>C (p.Glu4Gln) c.*45G>C (n.*45G>C) c.263G>C (p.Arg88Pro) n.337G>C n.312G>C c.140G>C (p.Arg47Pro) n.357G>C | |
| 4 | g.15480737G= | CA1440665122 | CC2D2A | c.157G= (p.Glu53=) c.10G= (p.Glu4=) c.*45G= (n.*45G=) c.263G= (p.Arg88=) n.337G= n.312G= c.140G= (p.Arg47=) n.357G= | |
| 4 | g.15480737G>T | CA356407578 | CC2D2A | c.157G>T (p.Glu53Ter) c.10G>T (p.Glu4Ter) c.*45G>T (n.*45G>T) c.263G>T (p.Arg88Leu) n.337G>T n.312G>T c.140G>T (p.Arg47Leu) n.357G>T | |
| 4 | g.15480738A>C | CA356407579 | CC2D2A | c.158A>C (p.Glu53Ala) c.11A>C (p.Glu4Ala) c.*46A>C (n.*46A>C) c.264A>C (p.Arg88=) n.338A>C n.313A>C c.141A>C (p.Arg47=) n.358A>C | |
| 4 | g.15480738A>G | CA356407580 | CC2D2A | c.158A>G (p.Glu53Gly) c.11A>G (p.Glu4Gly) c.*46A>G (n.*46A>G) c.264A>G (p.Arg88=) n.338A>G n.313A>G c.141A>G (p.Arg47=) n.358A>G | |
| 4 | g.15480738A>T | CA356407581 | CC2D2A | c.158A>T (p.Glu53Val) c.11A>T (p.Glu4Val) c.*46A>T (n.*46A>T) c.264A>T (p.Arg88=) n.338A>T n.313A>T c.141A>T (p.Arg47=) n.358A>T | |
| 4 | g.15480739A>C | CA356407584 | CC2D2A | c.159A>C (p.Glu53Asp) c.12A>C (p.Glu4Asp) c.*47A>C (n.*47A>C) c.265A>C (p.Lys89Gln) n.339A>C n.314A>C c.142A>C (p.Lys48Gln) n.359A>C | |
| 4 | g.15480739A>G | CA356407583 | CC2D2A | c.159A>G (p.Glu53=) c.12A>G (p.Glu4=) c.*47A>G (n.*47A>G) c.265A>G (p.Lys89Glu) n.339A>G n.314A>G c.142A>G (p.Lys48Glu) n.359A>G | |
| 4 | g.15480739A>T | CA356407582 | CC2D2A | c.159A>T (p.Glu53Asp) c.12A>T (p.Glu4Asp) c.*47A>T (n.*47A>T) c.265A>T (p.Lys89Ter) n.339A>T n.314A>T c.142A>T (p.Lys48Ter) n.359A>T | |
| 4 | g.15480740A>C | CA356407585 | CC2D2A | c.160A>C (p.Lys54Gln) c.13A>C (p.Lys5Gln) c.*48A>C (n.*48A>C) c.266A>C (p.Lys89Thr) n.340A>C n.315A>C c.143A>C (p.Lys48Thr) n.360A>C | |
| 4 | g.15480740A>G | CA356407586 | CC2D2A | c.160A>G (p.Lys54Glu) c.13A>G (p.Lys5Glu) c.*48A>G (n.*48A>G) c.266A>G (p.Lys89Arg) n.340A>G n.315A>G c.143A>G (p.Lys48Arg) n.360A>G | |
| 4 | g.15480740A>T | CA356407587 | CC2D2A | c.160A>T (p.Lys54Ter) c.13A>T (p.Lys5Ter) c.*48A>T (n.*48A>T) c.266A>T (p.Lys89Ile) n.340A>T n.315A>T c.143A>T (p.Lys48Ile) n.360A>T | COSMIC COSMIC |
| 4 | g.15480741A>C | CA356407588 | CC2D2A | c.161A>C (p.Lys54Thr) c.14A>C (p.Lys5Thr) c.*49A>C (n.*49A>C) c.267A>C (p.Lys89Asn) n.341A>C n.316A>C c.144A>C (p.Lys48Asn) n.361A>C | |
| 4 | g.15480741A>G | CA356407589 | CC2D2A | c.161A>G (p.Lys54Arg) c.14A>G (p.Lys5Arg) c.*49A>G (n.*49A>G) c.267A>G (p.Lys89=) n.341A>G n.316A>G c.144A>G (p.Lys48=) n.361A>G | |
| 4 | g.15480741A>T | CA356407590 | CC2D2A | c.161A>T (p.Lys54Ile) c.14A>T (p.Lys5Ile) c.*49A>T (n.*49A>T) c.267A>T (p.Lys89Asn) n.341A>T n.316A>T c.144A>T (p.Lys48Asn) n.361A>T | |
| 4 | g.15480742A>C | CA356407591 | CC2D2A | c.162A>C (p.Lys54Asn) c.15A>C (p.Lys5Asn) c.*50A>C (n.*50A>C) c.268A>C (p.Ile90Leu) n.342A>C n.317A>C c.145A>C (p.Ile49Leu) n.362A>C | |
| 4 | g.15480742A>G | CA356407592 | CC2D2A | c.162A>G (p.Lys54=) c.15A>G (p.Lys5=) c.*50A>G (n.*50A>G) c.268A>G (p.Ile90Val) n.342A>G n.317A>G c.145A>G (p.Ile49Val) n.362A>G | |
| 4 | g.15480742A>T | CA356407593 | CC2D2A | c.162A>T (p.Lys54Asn) c.15A>T (p.Lys5Asn) c.*50A>T (n.*50A>T) c.268A>T (p.Ile90Phe) n.342A>T n.317A>T c.145A>T (p.Ile49Phe) n.362A>T | |
| 4 | g.15480743T>A | CA356407594 | CC2D2A | c.163T>A (p.Ser55Thr) c.16T>A (p.Ser6Thr) c.*51T>A (n.*51T>A) c.269T>A (p.Ile90Asn) n.343T>A n.318T>A c.146T>A (p.Ile49Asn) n.363T>A | |
| 4 | g.15480743T>C | CA356407595 | CC2D2A | c.163T>C (p.Ser55Pro) c.16T>C (p.Ser6Pro) c.*51T>C (n.*51T>C) c.269T>C (p.Ile90Thr) n.343T>C n.318T>C c.146T>C (p.Ile49Thr) n.363T>C | |
| 4 | g.15480743T>G | CA356407596 | CC2D2A | c.163T>G (p.Ser55Ala) c.16T>G (p.Ser6Ala) c.*51T>G (n.*51T>G) c.269T>G (p.Ile90Ser) n.343T>G n.318T>G c.146T>G (p.Ile49Ser) n.363T>G | |
| 4 | g.15480744C>A | CA356407599 | CC2D2A | c.164C>A (p.Ser55Tyr) c.17C>A (p.Ser6Tyr) c.*52C>A (n.*52C>A) c.270C>A (p.Ile90=) n.344C>A n.319C>A c.147C>A (p.Ile49=) n.364C>A | |
| 4 | g.15480744C= | CA1440665123 | CC2D2A | c.164C= (p.Ser55=) c.17C= (p.Ser6=) c.*52C= (n.*52C=) c.270C= (p.Ile90=) n.344C= n.319C= c.147C= (p.Ile49=) n.364C= | |
| 4 | g.15480744C>G | CA356407598 | CC2D2A | c.164C>G (p.Ser55Cys) c.17C>G (p.Ser6Cys) c.*52C>G (n.*52C>G) c.270C>G (p.Ile90Met) n.344C>G n.319C>G c.147C>G (p.Ile49Met) n.364C>G | |
| 4 | g.15480744C>T | CA356407597 | CC2D2A | c.164C>T (p.Ser55Phe) c.17C>T (p.Ser6Phe) c.*52C>T (n.*52C>T) c.270C>T (p.Ile90=) n.344C>T n.319C>T c.147C>T (p.Ile49=) n.364C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15480745C>A | CA356407600 | CC2D2A | c.165C>A (p.Ser55=) c.18C>A (p.Ser6=) c.*53C>A (n.*53C>A) c.271C>A (p.Pro91Thr) n.345C>A n.320C>A c.148C>A (p.Pro50Thr) n.365C>A | ClinVar |
| 4 | g.15480745C= | CA1440665124 | CC2D2A | c.165C= (p.Ser55=) c.18C= (p.Ser6=) c.*53C= (n.*53C=) c.271C= (p.Pro91=) n.345C= n.320C= c.148C= (p.Pro50=) n.365C= | |
| 4 | g.15480745C>G | CA246013 | CC2D2A | c.165C>G (p.Ser55=) c.18C>G (p.Ser6=) c.*53C>G (n.*53C>G) c.271C>G (p.Pro91Ala) n.345C>G n.320C>G c.148C>G (p.Pro50Ala) n.365C>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.15480745C>T | CA356407601 | CC2D2A | c.165C>T (p.Ser55=) c.18C>T (p.Ser6=) c.*53C>T (n.*53C>T) c.271C>T (p.Pro91Ser) n.345C>T n.320C>T c.148C>T (p.Pro50Ser) n.365C>T | |
| 4 | g.15480746C>A | CA356407602 | CC2D2A | c.166C>A (p.His56Asn) c.19C>A (p.His7Asn) c.*54C>A (n.*54C>A) c.272C>A (p.Pro91Gln) n.346C>A n.321C>A c.149C>A (p.Pro50Gln) n.366C>A | |
| 4 | g.15480746C= | CA1440665125 | CC2D2A | c.166C= (p.His56=) c.19C= (p.His7=) c.*54C= (n.*54C=) c.272C= (p.Pro91=) n.346C= n.321C= c.149C= (p.Pro50=) n.366C= | |
| 4 | g.15480746C>G | CA356407603 | CC2D2A | c.166C>G (p.His56Asp) c.19C>G (p.His7Asp) c.*54C>G (n.*54C>G) c.272C>G (p.Pro91Arg) n.346C>G n.321C>G c.149C>G (p.Pro50Arg) n.366C>G | |
| 4 | g.15480746C>T | CA2863296 | CC2D2A | c.166C>T (p.His56Tyr) c.19C>T (p.His7Tyr) c.*54C>T (n.*54C>T) c.272C>T (p.Pro91Leu) n.346C>T n.321C>T c.149C>T (p.Pro50Leu) n.366C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15480747A= | CA1440665126 | CC2D2A | c.167A= (p.His56=) c.20A= (p.His7=) c.*55A= (n.*55A=) c.273A= (p.Pro91=) n.347A= n.322A= c.150A= (p.Pro50=) n.367A= | |
| 4 | g.15480747A>C | CA356407604 | CC2D2A | c.167A>C (p.His56Pro) c.20A>C (p.His7Pro) c.*55A>C (n.*55A>C) c.273A>C (p.Pro91=) n.347A>C n.322A>C c.150A>C (p.Pro50=) n.367A>C | dbSNP |
| 4 | g.15480747A>G | CA356407606 | CC2D2A | c.167A>G (p.His56Arg) c.20A>G (p.His7Arg) c.*55A>G (n.*55A>G) c.273A>G (p.Pro91=) n.347A>G n.322A>G c.150A>G (p.Pro50=) n.367A>G | |
| 4 | g.15480747A>T | CA356407605 | CC2D2A | c.167A>T (p.His56Leu) c.20A>T (p.His7Leu) c.*55A>T (n.*55A>T) c.273A>T (p.Pro91=) n.347A>T n.322A>T c.150A>T (p.Pro50=) n.367A>T | |
| 4 | g.15480748C>A | CA356407607 | CC2D2A | c.168C>A (p.His56Gln) c.21C>A (p.His7Gln) c.*56C>A (n.*56C>A) c.274C>A (p.Pro92Thr) n.348C>A n.323C>A c.151C>A (p.Pro51Thr) n.368C>A | |
| 4 | g.15480748C= | CA1440665127 | CC2D2A | c.168C= (p.His56=) c.21C= (p.His7=) c.*56C= (n.*56C=) c.274C= (p.Pro92=) n.348C= n.323C= c.151C= (p.Pro51=) n.368C= | |
| 4 | g.15480748C>G | CA356407608 | CC2D2A | c.168C>G (p.His56Gln) c.21C>G (p.His7Gln) c.*56C>G (n.*56C>G) c.274C>G (p.Pro92Ala) n.348C>G n.323C>G c.151C>G (p.Pro51Ala) n.368C>G | |
| 4 | g.15480748C>T | CA356407609 | CC2D2A | c.168C>T (p.His56=) c.21C>T (p.His7=) c.*56C>T (n.*56C>T) c.274C>T (p.Pro92Ser) n.348C>T n.323C>T c.151C>T (p.Pro51Ser) n.368C>T | dbSNP gnomAD v2 |
| 4 | g.15480749C>A | CA356407610 | CC2D2A | c.169C>A (p.Leu57Ile) c.22C>A (p.Leu8Ile) c.*57C>A (n.*57C>A) c.275C>A (p.Pro92His) n.349C>A n.324C>A c.152C>A (p.Pro51His) n.369C>A | gnomAD v4 |
| 4 | g.15480749C>G | CA356407611 | CC2D2A | c.169C>G (p.Leu57Val) c.22C>G (p.Leu8Val) c.*57C>G (n.*57C>G) c.275C>G (p.Pro92Arg) n.349C>G n.324C>G c.152C>G (p.Pro51Arg) n.369C>G | |
| 4 | g.15480749C>T | CA356407612 | CC2D2A | c.169C>T (p.Leu57Phe) c.22C>T (p.Leu8Phe) c.*57C>T (n.*57C>T) c.275C>T (p.Pro92Leu) n.349C>T n.324C>T c.152C>T (p.Pro51Leu) n.369C>T | |
| 4 | g.15480750T>A | CA356407615 | CC2D2A | c.170T>A (p.Leu57His) c.23T>A (p.Leu8His) c.*58T>A (n.*58T>A) c.276T>A (p.Pro92=) n.350T>A n.325T>A c.153T>A (p.Pro51=) n.370T>A |