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.7584198_7584219del | CA2573052740 | DSP | c.5607_5628del (p.Glu1870TrpfsTer?) c.6936_6957del (p.Glu2313TrpfsTer?) c.5139_5160del (p.Glu1714TrpfsTer?) | ClinVar dbSNP |
6 | g.7584202G>A | CA362691885 | DSP | c.5611G>A (p.Glu1871Lys) c.6940G>A (p.Glu2314Lys) c.5143G>A (p.Glu1715Lys) | |
6 | g.7584202G>C | CA362691886 | DSP | c.5611G>C (p.Glu1871Gln) c.6940G>C (p.Glu2314Gln) c.5143G>C (p.Glu1715Gln) | |
6 | g.7584202G= | CA1608610448 | DSP | c.5611G= (p.Glu1871=) c.6940G= (p.Glu2314=) c.5143G= (p.Glu1715=) | |
6 | g.7584202G>T | CA16042653 | DSP | c.5611G>T (p.Glu1871Ter) c.6940G>T (p.Glu2314Ter) c.5143G>T (p.Glu1715Ter) | ClinVar dbSNP |
6 | g.7584203A= | CA1608610454 | DSP | c.5612A= (p.Glu1871=) c.6941A= (p.Glu2314=) c.5144A= (p.Glu1715=) | |
6 | g.7584203A>C | CA362691887 | DSP | c.5612A>C (p.Glu1871Ala) c.6941A>C (p.Glu2314Ala) c.5144A>C (p.Glu1715Ala) | |
6 | g.7584203A>G | CA362691888 | DSP | c.5612A>G (p.Glu1871Gly) c.6941A>G (p.Glu2314Gly) c.5144A>G (p.Glu1715Gly) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7584203A>T | CA362691889 | DSP | c.5612A>T (p.Glu1871Val) c.6941A>T (p.Glu2314Val) c.5144A>T (p.Glu1715Val) | |
6 | g.7584204A= | CA1608610461 | DSP | c.5613A= (p.Glu1871=) c.6942A= (p.Glu2314=) c.5145A= (p.Glu1715=) | |
6 | g.7584204A>C | CA362691890 | DSP | c.5613A>C (p.Glu1871Asp) c.6942A>C (p.Glu2314Asp) c.5145A>C (p.Glu1715Asp) | |
6 | g.7584204A>G | CA048685 | DSP | c.5613A>G (p.Glu1871=) c.6942A>G (p.Glu2314=) c.5145A>G (p.Glu1715=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7584204A>T | CA362691891 | DSP | c.5613A>T (p.Glu1871Asp) c.6942A>T (p.Glu2314Asp) c.5145A>T (p.Glu1715Asp) | |
6 | g.7584205G>A | CA362691894 | DSP | c.5614G>A (p.Ala1872Thr) c.6943G>A (p.Ala2315Thr) c.5146G>A (p.Ala1716Thr) | |
6 | g.7584205G>C | CA362691892 | DSP | c.5614G>C (p.Ala1872Pro) c.6943G>C (p.Ala2315Pro) c.5146G>C (p.Ala1716Pro) | |
6 | g.7584205G>T | CA362691893 | DSP | c.5614G>T (p.Ala1872Ser) c.6943G>T (p.Ala2315Ser) c.5146G>T (p.Ala1716Ser) | |
6 | g.7584206C>A | CA362691895 | DSP | c.5615C>A (p.Ala1872Asp) c.6944C>A (p.Ala2315Asp) c.5147C>A (p.Ala1716Asp) | |
6 | g.7584206C>G | CA362691896 | DSP | c.5615C>G (p.Ala1872Gly) c.6944C>G (p.Ala2315Gly) c.5147C>G (p.Ala1716Gly) | |
6 | g.7584206C>T | CA362691897 | DSP | c.5615C>T (p.Ala1872Val) c.6944C>T (p.Ala2315Val) c.5147C>T (p.Ala1716Val) | |
6 | g.7584207C>A | CA048700 | DSP | c.5616C>A (p.Ala1872=) c.6945C>A (p.Ala2315=) c.5148C>A (p.Ala1716=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584207C= | CA1608610470 | DSP | c.5616C= (p.Ala1872=) c.6945C= (p.Ala2315=) c.5148C= (p.Ala1716=) | |
6 | g.7584207C>G | CA448715962 | DSP | c.5616C>G (p.Ala1872=) c.6945C>G (p.Ala2315=) c.5148C>G (p.Ala1716=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584207C>T | CA448715964 | DSP | c.5616C>T (p.Ala1872=) c.6945C>T (p.Ala2315=) c.5148C>T (p.Ala1716=) | |
6 | g.7584208T>A | CA362691898 | DSP | c.5617T>A (p.Tyr1873Asn) c.6946T>A (p.Tyr2316Asn) c.5149T>A (p.Tyr1717Asn) | |
6 | g.7584208T>C | CA362691899 | DSP | c.5617T>C (p.Tyr1873His) c.6946T>C (p.Tyr2316His) c.5149T>C (p.Tyr1717His) | ClinVar dbSNP |
6 | g.7584208T>G | CA362691900 | DSP | c.5617T>G (p.Tyr1873Asp) c.6946T>G (p.Tyr2316Asp) c.5149T>G (p.Tyr1717Asp) | |
6 | g.7584208T= | CA1608610479 | DSP | c.5617T= (p.Tyr1873=) c.6946T= (p.Tyr2316=) c.5149T= (p.Tyr1717=) | |
6 | g.7584209A= | CA1608610495 | DSP | c.5618A= (p.Tyr1873=) c.6947A= (p.Tyr2316=) c.5150A= (p.Tyr1717=) | |
6 | g.7584209A>C | CA362691901 | DSP | c.5618A>C (p.Tyr1873Ser) c.6947A>C (p.Tyr2316Ser) c.5150A>C (p.Tyr1717Ser) | |
6 | g.7584209A>G | CA048714 | DSP | c.5618A>G (p.Tyr1873Cys) c.6947A>G (p.Tyr2316Cys) c.5150A>G (p.Tyr1717Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584209A>T | CA362691902 | DSP | c.5618A>T (p.Tyr1873Phe) c.6947A>T (p.Tyr2316Phe) c.5150A>T (p.Tyr1717Phe) | gnomAD v4 |
6 | g.7584210C>A | CA362691903 | DSP | c.5619C>A (p.Tyr1873Ter) c.6948C>A (p.Tyr2316Ter) c.5151C>A (p.Tyr1717Ter) | |
6 | g.7584210C>G | CA362691904 | DSP | c.5619C>G (p.Tyr1873Ter) c.6948C>G (p.Tyr2316Ter) c.5151C>G (p.Tyr1717Ter) | |
6 | g.7584210C>T | CA448715967 | DSP | c.5619C>T (p.Tyr1873=) c.6948C>T (p.Tyr2316=) c.5151C>T (p.Tyr1717=) | dbSNP |
6 | g.7584211A>C | CA362691907 | DSP | c.5620A>C (p.Lys1874Gln) c.6949A>C (p.Lys2317Gln) c.5152A>C (p.Lys1718Gln) | |
6 | g.7584211A>G | CA362691906 | DSP | c.5620A>G (p.Lys1874Glu) c.6949A>G (p.Lys2317Glu) c.5152A>G (p.Lys1718Glu) | |
6 | g.7584211A>T | CA362691905 | DSP | c.5620A>T (p.Lys1874Ter) c.6949A>T (p.Lys2317Ter) c.5152A>T (p.Lys1718Ter) | |
6 | g.7584211_7584213delinsAAG | CA1608610528 | DSP | c.5620_5622delinsAAG (p.Lys1874=) c.6949_6951delinsAAG (p.Lys2317=) c.5152_5154delinsAAG (p.Lys1718=) | |
6 | g.7584212A= | CA1608610541 | DSP | c.5621A= (p.Lys1874=) c.6950A= (p.Lys2317=) c.5153A= (p.Lys1718=) | |
6 | g.7584212A>C | CA362691908 | DSP | c.5621A>C (p.Lys1874Thr) c.6950A>C (p.Lys2317Thr) c.5153A>C (p.Lys1718Thr) | |
6 | g.7584212A>G | CA362691909 | DSP | c.5621A>G (p.Lys1874Arg) c.6950A>G (p.Lys2317Arg) c.5153A>G (p.Lys1718Arg) | ClinVar dbSNP |
6 | g.7584212A>T | CA362691910 | DSP | c.5621A>T (p.Lys1874Met) c.6950A>T (p.Lys2317Met) c.5153A>T (p.Lys1718Met) | |
6 | g.7584216_7584217del | CA658796720 | DSP | c.5625_5626del (p.Gly1876SerfsTer5) c.6954_6955del (p.Gly2319SerfsTer5) c.5157_5158del (p.Gly1720SerfsTer5) | ClinVar dbSNP gnomAD v4 |
6 | g.7584213G>A | CA448715969 | DSP | c.5622G>A (p.Lys1874=) c.6951G>A (p.Lys2317=) c.5154G>A (p.Lys1718=) | dbSNP |
6 | g.7584213G>C | CA362691911 | DSP | c.5622G>C (p.Lys1874Asn) c.6951G>C (p.Lys2317Asn) c.5154G>C (p.Lys1718Asn) | gnomAD v4 |
6 | g.7584213G= | CA1608610546 | DSP | c.5622G= (p.Lys1874=) c.6951G= (p.Lys2317=) c.5154G= (p.Lys1718=) |