Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
17 | g.80111485_80118678del | CA10654926 | GAA | c.1636+460_2672del c.1636+460_*810del | ClinVar |
17 | g.80112027_80112045dup | CA919905205 | GAA | c.1681_1699dup (p.Thr567LysfsTer?) c.69_87dup n.295_313dup | dbSNP |
17 | g.80112030_80112033dup | CA2695227100 | GAA | c.1684_1687dup (p.Gln563ProfsTer?) c.72_75dup n.298_301dup | |
17 | g.80112033C>A | CA401368991 | GAA | c.1687C>A (p.Gln563Lys) c.75C>A n.301C>A | |
17 | g.80112033C= | CA2277814749 | GAA | c.1687C= (p.Gln563=) c.75C= n.301C= | |
17 | g.80112033C>G | CA401368992 | GAA | c.1687C>G (p.Gln563Glu) c.75C>G n.301C>G | gnomAD v4 |
17 | g.80112033C>T | CA16041895 | GAA | c.1687C>T (p.Gln563Ter) c.75C>T n.301C>T | ClinVar dbSNP gnomAD v4 |
17 | g.80112034A= | CA2277814750 | GAA | c.1688A= (p.Gln563=) c.76A= n.302A= | |
17 | g.80112034A>C | CA401368993 | GAA | c.1688A>C (p.Gln563Pro) c.76A>C n.302A>C | |
17 | g.80112034A>G | CA401368994 | GAA | c.1688A>G (p.Gln563Arg) c.76A>G n.302A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80112034A>T | CA401368995 | GAA | c.1688A>T (p.Gln563Leu) c.76A>T n.302A>T | |
17 | g.80112035G>A | CA502178890 | GAA | c.1689G>A (p.Gln563=) c.77G>A n.303G>A | dbSNP gnomAD v2 |
17 | g.80112035G>C | CA401368996 | GAA | c.1689G>C (p.Gln563His) c.77G>C n.303G>C | |
17 | g.80112035G= | CA2277814751 | GAA | c.1689G= (p.Gln563=) c.77G= n.303G= | |
17 | g.80112035G>T | CA401368997 | GAA | c.1689G>T (p.Gln563His) c.77G>T n.303G>T | |
17 | g.80112035_80112036delinsGT | CA2277814752 | GAA | c.1689_1690delinsGT (p.Gln563=) c.77_78delinsGT n.303_304delinsGT | |
17 | g.80112036T>A | CA401368998 | GAA | c.1690T>A (p.Phe564Ile) c.78T>A n.304T>A | |
17 | g.80112036T>C | CA401368999 | GAA | c.1690T>C (p.Phe564Leu) c.78T>C n.304T>C | |
17 | g.80112036T>G | CA401369000 | GAA | c.1690T>G (p.Phe564Val) c.78T>G n.304T>G | |
17 | g.80112038del | CA658798979 | GAA | c.1692del (p.Leu565SerfsTer13) c.80del n.306del | ClinVar dbSNP |
17 | g.80112037T>A | CA401369001 | GAA | c.1691T>A (p.Phe564Tyr) c.79T>A n.305T>A | |
17 | g.80112037T>C | CA401369002 | GAA | c.1691T>C (p.Phe564Ser) c.79T>C n.305T>C | |
17 | g.80112037T>G | CA401369003 | GAA | c.1691T>G (p.Phe564Cys) c.79T>G n.305T>G | |
17 | g.80112038T>A | CA401369004 | GAA | c.1692T>A (p.Phe564Leu) c.80T>A n.306T>A | |
17 | g.80112038T>C | CA502178892 | GAA | c.1692T>C (p.Phe564=) c.80T>C n.306T>C | ClinVar dbSNP gnomAD v4 |
17 | g.80112038T>G | CA10606210 | GAA | c.1692T>G (p.Phe564Leu) c.80T>G n.306T>G | ClinVar dbSNP |
17 | g.80112038T= | CA2277814753 | GAA | c.1692T= (p.Phe564=) c.80T= n.306T= | |
17 | g.80112040_80112043del | CA658795263 | GAA | c.1694_1697del (p.Leu565ProfsTer12) c.82_85del n.308_311del | ClinVar |
17 | g.80112039C>A | CA401369005 | GAA | c.1693C>A (p.Leu565Ile) c.81C>A n.307C>A | |
17 | g.80112039C>G | CA401369006 | GAA | c.1693C>G (p.Leu565Val) c.81C>G n.307C>G | |
17 | g.80112039C>T | CA401369007 | GAA | c.1693C>T (p.Leu565Phe) c.81C>T n.307C>T | ClinVar COSMIC |
17 | g.80112040T>A | CA401369008 | GAA | c.1694T>A (p.Leu565His) c.82T>A n.308T>A | |
17 | g.80112040T>C | CA401369009 | GAA | c.1694T>C (p.Leu565Pro) c.82T>C n.308T>C | gnomAD v4 |
17 | g.80112040T>G | CA401369010 | GAA | c.1694T>G (p.Leu565Arg) c.82T>G n.308T>G | |
17 | g.80112041C>A | CA502178896 | GAA | c.1695C>A (p.Leu565=) c.83C>A n.309C>A | |
17 | g.80112041C>G | CA502178895 | GAA | c.1695C>G (p.Leu565=) c.83C>G n.309C>G | ClinVar dbSNP |
17 | g.80112041C>T | CA502178894 | GAA | c.1695C>T (p.Leu565=) c.83C>T n.309C>T | |
17 | g.80112042T>A | CA401369013 | GAA | c.1696T>A (p.Ser566Thr) c.84T>A n.310T>A | |
17 | g.80112042T>C | CA401369012 | GAA | c.1696T>C (p.Ser566Pro) c.84T>C n.310T>C | |
17 | g.80112042T>G | CA401369011 | GAA | c.1696T>G (p.Ser566Ala) c.84T>G n.310T>G | gnomAD v4 |
17 | g.80112043C>A | CA401369014 | GAA | c.1697C>A (p.Ser566Tyr) c.85C>A n.311C>A | dbSNP |
17 | g.80112043C= | CA2277814754 | GAA | c.1697C= (p.Ser566=) c.85C= n.311C= | |
17 | g.80112043C>G | CA401369015 | GAA | c.1697C>G (p.Ser566Cys) c.85C>G n.311C>G | gnomAD v4 |
17 | g.80112043C>T | CA401369016 | GAA | c.1697C>T (p.Ser566Phe) c.85C>T n.311C>T | ClinVar |
17 | g.80112044C>A | CA502178897 | GAA | c.1698C>A (p.Ser566=) c.86C>A n.312C>A | |
17 | g.80112044C= | CA2277814755 | GAA | c.1698C= (p.Ser566=) c.86C= n.312C= | |
17 | g.80112044C>G | CA502178898 | GAA | c.1698C>G (p.Ser566=) c.86C>G n.312C>G | |
17 | g.80112044C>T | CA294895791 | GAA | c.1698C>T (p.Ser566=) c.86C>T n.312C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |