| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.71783957T>C | CA2670943552 | GC | c.58+4A>G (n.58+4A>G) c.115+4A>G (n.115+4A>G) | gnomAD v4 |
| 4 | g.71783958del | CA2670943551 | GC | c.58+4del (n.58+4del) c.115+4del (n.115+4del) | gnomAD v4 |
| 4 | g.71783958T>A | CA99074574 | GC | c.58+3A>T (n.58+3A>T) c.115+3A>T (n.115+3A>T) | dbSNP |
| 4 | g.71783958T>C | CA2670943553 | GC | c.58+3A>G (n.58+3A>G) c.115+3A>G (n.115+3A>G) | gnomAD v4 |
| 4 | g.71783958T>G | CA99074575 | GC | c.58+3A>C (n.58+3A>C) c.115+3A>C (n.115+3A>C) | dbSNP |
| 4 | g.71783958T= | CA1467385580 | GC | c.58+3A= (n.58+3A=) c.115+3A= (n.115+3A=) | |
| 4 | g.71783959A= | CA1467385581 | GC | c.58+2T= (n.58+2T=) c.115+2T= (n.115+2T=) | |
| 4 | g.71783959A>C | CA357212011 | GC | c.58+2T>G (n.58+2T>G) c.115+2T>G (n.115+2T>G) | |
| 4 | g.71783959A>G | CA99074578 | GC | c.58+2T>C (n.58+2T>C) c.115+2T>C (n.115+2T>C) | dbSNP gnomAD v4 |
| 4 | g.71783959A>T | CA99074580 | GC | c.58+2T>A (n.58+2T>A) c.115+2T>A (n.115+2T>A) | dbSNP |
| 4 | g.71783960C>A | CA357212018 | GC | c.58+1G>T (n.58+1G>T) c.115+1G>T (n.115+1G>T) | |
| 4 | g.71783960C= | CA1467385582 | GC | c.58+1G= (n.58+1G=) c.115+1G= (n.115+1G=) | |
| 4 | g.71783960C>G | CA357212021 | GC | c.58+1G>C (n.58+1G>C) c.115+1G>C (n.115+1G>C) | |
| 4 | g.71783960C>T | CA357212022 | GC | c.58+1G>A (n.58+1G>A) c.115+1G>A (n.115+1G>A) | dbSNP |
| 4 | g.71783961C>A | CA357212023 | GC | c.58G>T (p.Gly20Cys) c.115G>T (p.Gly39Cys) | gnomAD v4 |
| 4 | g.71783961C= | CA1467385583 | GC | c.58G= (p.Gly20=) c.115G= (p.Gly39=) | |
| 4 | g.71783961C>G | CA357212024 | GC | c.58G>C (p.Gly20Arg) c.115G>C (p.Gly39Arg) | gnomAD v4 |
| 4 | g.71783961C>T | CA357212025 | GC | c.58G>A (p.Gly20Ser) c.115G>A (p.Gly39Ser) | dbSNP gnomAD v4 |
| 4 | g.71783967_71783968dup | CA2670943554 | GC | c.57_58dup (p.Gly20GlufsTer27) c.114_115dup (p.Gly39GlufsTer27) | gnomAD v4 |
| 4 | g.71783967_71783968del | CA2670943555 | GC | c.57_58del (p.Gly20ProfsTer4) c.114_115del (p.Gly39ProfsTer4) | gnomAD v4 |
| 4 | g.71783962T>A | CA357212026 | GC | c.57A>T (p.Arg19Ser) c.114A>T (p.Arg38Ser) | |
| 4 | g.71783962T>C | CA439799364 | GC | c.57A>G (p.Arg19=) c.114A>G (p.Arg38=) | gnomAD v4 |
| 4 | g.71783962T>G | CA357212028 | GC | c.57A>C (p.Arg19Ser) c.114A>C (p.Arg38Ser) | |
| 4 | g.71783963C>A | CA357212048 | GC | c.56G>T (p.Arg19Ile) c.113G>T (p.Arg38Ile) | |
| 4 | g.71783963C= | CA1467385584 | GC | c.56G= (p.Arg19=) c.113G= (p.Arg38=) | |
| 4 | g.71783963C>G | CA357212045 | GC | c.56G>C (p.Arg19Thr) c.113G>C (p.Arg38Thr) | COSMIC COSMIC |
| 4 | g.71783963C>T | CA2955859 | GC | c.56G>A (p.Arg19Lys) c.113G>A (p.Arg38Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71783963_71783964delinsCT | CA1467385585 | GC | c.55_56delinsAG (p.Arg19=) c.112_113delinsAG (p.Arg38=) | |
| 4 | g.71783964del | CA1064002322 | GC | c.55del (p.Arg19GlufsTer27) c.112del (p.Arg38GlufsTer27) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71783964T>A | CA357212053 | GC | c.55A>T (p.Arg19Ter) c.112A>T (p.Arg38Ter) | |
| 4 | g.71783964T>C | CA357212055 | GC | c.55A>G (p.Arg19Gly) c.112A>G (p.Arg38Gly) | gnomAD v4 |
| 4 | g.71783964T>G | CA439799369 | GC | c.55A>C (p.Arg19=) c.112A>C (p.Arg38=) | |
| 4 | g.71783965C>A | CA357212057 | GC | c.54G>T (p.Glu18Asp) c.111G>T (p.Glu37Asp) | |
| 4 | g.71783965C= | CA1467385586 | GC | c.54G= (p.Glu18=) c.111G= (p.Glu37=) | |
| 4 | g.71783965C>G | CA357212059 | GC | c.54G>C (p.Glu18Asp) c.111G>C (p.Glu37Asp) | |
| 4 | g.71783965C>T | CA439799370 | GC | c.54G>A (p.Glu18=) c.111G>A (p.Glu37=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71783966T>A | CA357212062 | GC | c.53A>T (p.Glu18Val) c.110A>T (p.Glu37Val) | |
| 4 | g.71783966T>C | CA357212066 | GC | c.53A>G (p.Glu18Gly) c.110A>G (p.Glu37Gly) | |
| 4 | g.71783966T>G | CA357212070 | GC | c.53A>C (p.Glu18Ala) c.110A>C (p.Glu37Ala) | |
| 4 | g.71783967C>A | CA357212073 | GC | c.52G>T (p.Glu18Ter) c.109G>T (p.Glu37Ter) | |
| 4 | g.71783967C= | CA1467385587 | GC | c.52G= (p.Glu18=) c.109G= (p.Glu37=) | |
| 4 | g.71783967C>G | CA357212075 | GC | c.52G>C (p.Glu18Gln) c.109G>C (p.Glu37Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71783967C>T | CA357212076 | GC | c.52G>A (p.Glu18Lys) c.109G>A (p.Glu37Lys) | COSMIC COSMIC |
| 4 | g.71783968T>A | CA357212077 | GC | c.51A>T (p.Leu17Phe) c.108A>T (p.Leu36Phe) | |
| 4 | g.71783968T>C | CA439799378 | GC | c.51A>G (p.Leu17=) c.108A>G (p.Leu36=) | |
| 4 | g.71783968T>G | CA357212078 | GC | c.51A>C (p.Leu17Phe) c.108A>C (p.Leu36Phe) | |
| 4 | g.71783969A= | CA1467385588 | GC | c.50T= (p.Leu17=) c.107T= (p.Leu36=) | |
| 4 | g.71783969A>C | CA357212087 | GC | c.50T>G (p.Leu17Ter) c.107T>G (p.Leu36Ter) | |
| 4 | g.71783969A>G | CA2955860 | GC | c.50T>C (p.Leu17Ser) c.107T>C (p.Leu36Ser) | dbSNP ExAC gnomAD v2 |
| 4 | g.71783969A>T | CA357212082 | GC | c.50T>A (p.Leu17Ter) c.107T>A (p.Leu36Ter) |