| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7583351_7583353delinsCTT | CA1608607886 | DSP | c.4760_4762delinsCTT (p.Ser1587=) c.6089_6091delinsCTT (p.Ser2030=) c.4292_4294delinsCTT (p.Ser1431=) | |
| 6 | g.7583352T>A | CA448715734 | DSP | c.4761T>A (p.Ser1587=) c.6090T>A (p.Ser2030=) c.4293T>A (p.Ser1431=) | ClinVar |
| 6 | g.7583352T>C | CA448715735 | DSP | c.4761T>C (p.Ser1587=) c.6090T>C (p.Ser2030=) c.4293T>C (p.Ser1431=) | gnomAD v4 |
| 6 | g.7583352T>G | CA448715736 | DSP | c.4761T>G (p.Ser1587=) c.6090T>G (p.Ser2030=) c.4293T>G (p.Ser1431=) | |
| 6 | g.7583353_7583354del | CA006713 | DSP | c.4762_4763del (p.Leu1588GlyfsTer29) c.6091_6092del (p.Leu2031GlyfsTer29) c.4294_4295del (p.Leu1432GlyfsTer29) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583353T>A | CA362690057 | DSP | c.4762T>A (p.Leu1588Met) c.6091T>A (p.Leu2031Met) c.4294T>A (p.Leu1432Met) | |
| 6 | g.7583353T>C | CA448715738 | DSP | c.4762T>C (p.Leu1588=) c.6091T>C (p.Leu2031=) c.4294T>C (p.Leu1432=) | |
| 6 | g.7583353T>G | CA362690058 | DSP | c.4762T>G (p.Leu1588Val) c.6091T>G (p.Leu2031Val) c.4294T>G (p.Leu1432Val) | |
| 6 | g.7583354T>A | CA362690059 | DSP | c.4763T>A (p.Leu1588Ter) c.6092T>A (p.Leu2031Ter) c.4295T>A (p.Leu1432Ter) | |
| 6 | g.7583354T>C | CA046870 | DSP | c.4763T>C (p.Leu1588Ser) c.6092T>C (p.Leu2031Ser) c.4295T>C (p.Leu1432Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583354T>G | CA362690060 | DSP | c.4763T>G (p.Leu1588Trp) c.6092T>G (p.Leu2031Trp) c.4295T>G (p.Leu1432Trp) | |
| 6 | g.7583354T= | CA1608607900 | DSP | c.4763T= (p.Leu1588=) c.6092T= (p.Leu2031=) c.4295T= (p.Leu1432=) | |
| 6 | g.7583355G>A | CA448715742 | DSP | c.4764G>A (p.Leu1588=) c.6093G>A (p.Leu2031=) c.4296G>A (p.Leu1432=) | |
| 6 | g.7583355G>C | CA362690061 | DSP | c.4764G>C (p.Leu1588Phe) c.6093G>C (p.Leu2031Phe) c.4296G>C (p.Leu1432Phe) | |
| 6 | g.7583355G>T | CA362690062 | DSP | c.4764G>T (p.Leu1588Phe) c.6093G>T (p.Leu2031Phe) c.4296G>T (p.Leu1432Phe) | |
| 6 | g.7583356G>A | CA133974330 | DSP | c.4765G>A (p.Val1589Ile) c.6094G>A (p.Val2032Ile) c.4297G>A (p.Val1433Ile) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7583356G>C | CA362690063 | DSP | c.4765G>C (p.Val1589Leu) c.6094G>C (p.Val2032Leu) c.4297G>C (p.Val1433Leu) | |
| 6 | g.7583356G= | CA1608607906 | DSP | c.4765G= (p.Val1589=) c.6094G= (p.Val2032=) c.4297G= (p.Val1433=) | |
| 6 | g.7583356G>T | CA362690064 | DSP | c.4765G>T (p.Val1589Leu) c.6094G>T (p.Val2032Leu) c.4297G>T (p.Val1433Leu) | |
| 6 | g.7583357T>A | CA362690065 | DSP | c.4766T>A (p.Val1589Glu) c.6095T>A (p.Val2032Glu) c.4298T>A (p.Val1433Glu) | |
| 6 | g.7583357T>C | CA362690066 | DSP | c.4766T>C (p.Val1589Ala) c.6095T>C (p.Val2032Ala) c.4298T>C (p.Val1433Ala) | |
| 6 | g.7583357T>G | CA362690067 | DSP | c.4766T>G (p.Val1589Gly) c.6095T>G (p.Val2032Gly) c.4298T>G (p.Val1433Gly) | |
| 6 | g.7583358A>C | CA448715747 | DSP | c.4767A>C (p.Val1589=) c.6096A>C (p.Val2032=) c.4299A>C (p.Val1433=) | |
| 6 | g.7583358A>G | CA448715748 | DSP | c.4767A>G (p.Val1589=) c.6096A>G (p.Val2032=) c.4299A>G (p.Val1433=) | ClinVar |
| 6 | g.7583358A>T | CA448715749 | DSP | c.4767A>T (p.Val1589=) c.6096A>T (p.Val2032=) c.4299A>T (p.Val1433=) | |
| 6 | g.7583359G>A | CA046883 | DSP | c.4768G>A (p.Glu1590Lys) c.6097G>A (p.Glu2033Lys) c.4300G>A (p.Glu1434Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7583359G>C | CA362690069 | DSP | c.4768G>C (p.Glu1590Gln) c.6097G>C (p.Glu2033Gln) c.4300G>C (p.Glu1434Gln) | |
| 6 | g.7583359G= | CA1608607913 | DSP | c.4768G= (p.Glu1590=) c.6097G= (p.Glu2033=) c.4300G= (p.Glu1434=) | |
| 6 | g.7583359G>T | CA362690068 | DSP | c.4768G>T (p.Glu1590Ter) c.6097G>T (p.Glu2033Ter) c.4300G>T (p.Glu1434Ter) | |
| 6 | g.7583360A>C | CA362690070 | DSP | c.4769A>C (p.Glu1590Ala) c.6098A>C (p.Glu2033Ala) c.4301A>C (p.Glu1434Ala) | |
| 6 | g.7583360A>G | CA362690071 | DSP | c.4769A>G (p.Glu1590Gly) c.6098A>G (p.Glu2033Gly) c.4301A>G (p.Glu1434Gly) | |
| 6 | g.7583360A>T | CA362690072 | DSP | c.4769A>T (p.Glu1590Val) c.6098A>T (p.Glu2033Val) c.4301A>T (p.Glu1434Val) | |
| 6 | g.7583361G>A | CA448715757 | DSP | c.4770G>A (p.Glu1590=) c.6099G>A (p.Glu2033=) c.4302G>A (p.Glu1434=) | ClinVar gnomAD v4 |
| 6 | g.7583361G>C | CA362690073 | DSP | c.4770G>C (p.Glu1590Asp) c.6099G>C (p.Glu2033Asp) c.4302G>C (p.Glu1434Asp) | |
| 6 | g.7583361G>T | CA362690074 | DSP | c.4770G>T (p.Glu1590Asp) c.6099G>T (p.Glu2033Asp) c.4302G>T (p.Glu1434Asp) | |
| 6 | g.7583362G>A | CA133974331 | DSP | c.4771G>A (p.Ala1591Thr) c.6100G>A (p.Ala2034Thr) c.4303G>A (p.Ala1435Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583362G>C | CA362690076 | DSP | c.4771G>C (p.Ala1591Pro) c.6100G>C (p.Ala2034Pro) c.4303G>C (p.Ala1435Pro) | |
| 6 | g.7583362G= | CA1608607915 | DSP | c.4771G= (p.Ala1591=) c.6100G= (p.Ala2034=) c.4303G= (p.Ala1435=) | |
| 6 | g.7583362G>T | CA362690075 | DSP | c.4771G>T (p.Ala1591Ser) c.6100G>T (p.Ala2034Ser) c.4303G>T (p.Ala1435Ser) | |
| 6 | g.7583363C>A | CA362690077 | DSP | c.4772C>A (p.Ala1591Asp) c.6101C>A (p.Ala2034Asp) c.4304C>A (p.Ala1435Asp) | |
| 6 | g.7583363C>G | CA362690078 | DSP | c.4772C>G (p.Ala1591Gly) c.6101C>G (p.Ala2034Gly) c.4304C>G (p.Ala1435Gly) | gnomAD v4 |
| 6 | g.7583363C>T | CA362690079 | DSP | c.4772C>T (p.Ala1591Val) c.6101C>T (p.Ala2034Val) c.4304C>T (p.Ala1435Val) | |
| 6 | g.7583364C>A | CA448715763 | DSP | c.4773C>A (p.Ala1591=) c.6102C>A (p.Ala2034=) c.4305C>A (p.Ala1435=) | |
| 6 | g.7583364C>G | CA448715762 | DSP | c.4773C>G (p.Ala1591=) c.6102C>G (p.Ala2034=) c.4305C>G (p.Ala1435=) | |
| 6 | g.7583364C>T | CA448715760 | DSP | c.4773C>T (p.Ala1591=) c.6102C>T (p.Ala2034=) c.4305C>T (p.Ala1435=) | |
| 6 | g.7583365A= | CA1608607921 | DSP | c.4774A= (p.Lys1592=) c.6103A= (p.Lys2035=) c.4306A= (p.Lys1436=) |