| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219418499_219419548del | CA1139655693 | DES | c.37_578+508del c.37_495+591del | ClinVar |
| 2 | g.219418976_219418997delinsCAGCGCGCGCGCGTCGACGTCG | CA1329210120 | DES | c.514_535delinsCAGCGCGCGCGCGTCGACGTCG (p.Gln172=) c.495+19_495+40delinsCAGCGCGCGCGCGTCGACGTCG (n.495+19_495+40delinsCAGCGCGCGCGCGTCGACGTCG) | |
| 2 | g.219418983_219419003del | CA217075 | DES | c.521_541del (p.Ala174_Arg180del) c.495+26_495+46del (n.495+26_495+46del) | ClinVar dbSNP |
| 2 | g.219418987_219418988dup | CA2580616703 | DES | c.525_526dup (p.Val176AlafsTer26) c.495+30_495+31dup (n.495+30_495+31dup) | ClinVar |
| 2 | g.219418987_219418988del | CA2125073 | DES | c.525_526del (p.Val176ArgfsTer?) c.495+30_495+31del (n.495+30_495+31del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.219418985_219419003del | CA2663250435 | DES | c.523_541del (p.Arg175ThrfsTer20) c.495+28_495+46del (n.495+28_495+46del) | gnomAD v4 |
| 2 | g.219418983C>A | CA350686850 | DES | c.521C>A (p.Ala174Glu) c.495+26C>A (n.495+26C>A) | gnomAD v4 |
| 2 | g.219418983C= | CA1329210128 | DES | c.521C= (p.Ala174=) c.495+26C= (n.495+26C=) | |
| 2 | g.219418983C>G | CA350686847 | DES | c.521C>G (p.Ala174Gly) c.495+26C>G (n.495+26C>G) | |
| 2 | g.219418983C>T | CA350686844 | DES | c.521C>T (p.Ala174Val) c.495+26C>T (n.495+26C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219418984G>A | CA431427928 | DES | c.522G>A (p.Ala174=) c.495+27G>A (n.495+27G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219418984G>C | CA431427929 | DES | c.522G>C (p.Ala174=) c.495+27G>C (n.495+27G>C) | ClinVar dbSNP |
| 2 | g.219418984G= | CA1329210129 | DES | c.522G= (p.Ala174=) c.495+27G= (n.495+27G=) | |
| 2 | g.219418984G>T | CA431427930 | DES | c.522G>T (p.Ala174=) c.495+27G>T (n.495+27G>T) | gnomAD v4 |
| 2 | g.219418985C>A | CA350686853 | DES | c.523C>A (p.Arg175Ser) c.495+28C>A (n.495+28C>A) | gnomAD v4 |
| 2 | g.219418985C= | CA1329210130 | DES | c.523C= (p.Arg175=) c.495+28C= (n.495+28C=) | |
| 2 | g.219418985C>G | CA350686857 | DES | c.523C>G (p.Arg175Gly) c.495+28C>G (n.495+28C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219418985C>T | CA350686859 | DES | c.523C>T (p.Arg175Cys) c.495+28C>T (n.495+28C>T) | gnomAD v4 COSMIC |
| 2 | g.219418986G>A | CA10581948 | DES | c.524G>A (p.Arg175His) c.495+29G>A (n.495+29G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.219418986G>C | CA350686867 | DES | c.524G>C (p.Arg175Pro) c.495+29G>C (n.495+29G>C) | |
| 2 | g.219418986G= | CA1329210131 | DES | c.524G= (p.Arg175=) c.495+29G= (n.495+29G=) | |
| 2 | g.219418986G>T | CA350686870 | DES | c.524G>T (p.Arg175Leu) c.495+29G>T (n.495+29G>T) | gnomAD v4 |
| 2 | g.219418986_219418988del | CA2577252533 | DES | c.524_526del (p.Arg175_Val176delinsLeu) c.495+29_495+31del (n.495+29_495+31del) | |
| 2 | g.219418987C>A | CA431427933 | DES | c.525C>A (p.Arg175=) c.495+30C>A (n.495+30C>A) | ClinVar dbSNP |
| 2 | g.219418987C= | CA1329210132 | DES | c.525C= (p.Arg175=) c.495+30C= (n.495+30C=) | |
| 2 | g.219418987C>G | CA431427934 | DES | c.525C>G (p.Arg175=) c.495+30C>G (n.495+30C>G) | |
| 2 | g.219418987C>T | CA431427935 | DES | c.525C>T (p.Arg175=) c.495+30C>T (n.495+30C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219418988G>A | CA350686874 | DES | c.526G>A (p.Val176Ile) c.495+31G>A (n.495+31G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219418988G>C | CA350686881 | DES | c.526G>C (p.Val176Leu) c.495+31G>C (n.495+31G>C) | dbSNP |
| 2 | g.219418988G= | CA1329210133 | DES | c.526G= (p.Val176=) c.495+31G= (n.495+31G=) | |
| 2 | g.219418988G>T | CA350686878 | DES | c.526G>T (p.Val176Phe) c.495+31G>T (n.495+31G>T) | |
| 2 | g.219418989T>A | CA350686886 | DES | c.527T>A (p.Val176Asp) c.495+32T>A (n.495+32T>A) | |
| 2 | g.219418989T>C | CA350686889 | DES | c.527T>C (p.Val176Ala) c.495+32T>C (n.495+32T>C) | gnomAD v4 |
| 2 | g.219418989T>G | CA350686892 | DES | c.527T>G (p.Val176Gly) c.495+32T>G (n.495+32T>G) | |
| 2 | g.219418990C>A | CA431427936 | DES | c.528C>A (p.Val176=) c.495+33C>A (n.495+33C>A) | gnomAD v4 |
| 2 | g.219418990C= | CA1329210134 | DES | c.528C= (p.Val176=) c.495+33C= (n.495+33C=) | |
| 2 | g.219418990C>G | CA16604070 | DES | c.528C>G (p.Val176=) c.495+33C>G (n.495+33C>G) | ClinVar dbSNP |
| 2 | g.219418990C>T | CA431427937 | DES | c.528C>T (p.Val176=) c.495+33C>T (n.495+33C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.219418991G>A | CA16604072 | DES | c.529G>A (p.Asp177Asn) c.495+34G>A (n.495+34G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.219418991G>C | CA350686897 | DES | c.529G>C (p.Asp177His) c.495+34G>C (n.495+34G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.219418991G= | CA1329210135 | DES | c.529G= (p.Asp177=) c.495+34G= (n.495+34G=) | |
| 2 | g.219418991G>T | CA350686899 | DES | c.529G>T (p.Asp177Tyr) c.495+34G>T (n.495+34G>T) | gnomAD v4 |
| 2 | g.219418992A>C | CA350686902 | DES | c.530A>C (p.Asp177Ala) c.495+35A>C (n.495+35A>C) | |
| 2 | g.219418992A>G | CA350686904 | DES | c.530A>G (p.Asp177Gly) c.495+35A>G (n.495+35A>G) | |
| 2 | g.219418992A>T | CA350686906 | DES | c.530A>T (p.Asp177Val) c.495+35A>T (n.495+35A>T) | |
| 2 | g.219418993C>A | CA350686912 | DES | c.531C>A (p.Asp177Glu) c.495+36C>A (n.495+36C>A) | gnomAD v4 |
| 2 | g.219418993C>G | CA350686914 | DES | c.531C>G (p.Asp177Glu) c.495+36C>G (n.495+36C>G) | |
| 2 | g.219418993C>T | CA431427938 | DES | c.531C>T (p.Asp177=) c.495+36C>T (n.495+36C>T) | gnomAD v4 |
| 2 | g.219418994del | CA2663250456 | DES | c.532del (p.Val178SerfsTer23) c.495+37del (n.495+37del) | gnomAD v4 |
| 2 | g.219418994G>A | CA350686919 | DES | c.532G>A (p.Val178Ile) c.495+37G>A (n.495+37G>A) | dbSNP gnomAD v2 gnomAD v4 |