Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.23637796_23637797dup | CA2815583551 | CST3 | c.68_69dup (p.Ala24ProfsTer13) c.68_69dup (p.Ala24ProfsTer?) | |
20 | g.23637794_23637797dup | CA2815583552 | CST3 | c.66_69dup (p.Ala24ProfsTer?) | |
20 | g.23637797del | CA2652172009 | CST3 | c.69del (p.Ala24ArgfsTer12) c.69del (p.Ala24ArgfsTer?) | gnomAD v4 |
20 | g.23637795G>A | CA313615477 | CST3 | c.68C>T (p.Pro23Leu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.23637795G>C | CA408424397 | CST3 | c.68C>G (p.Pro23Arg) | |
20 | g.23637795G= | CA2355967166 | CST3 | c.68C= (p.Pro23=) | |
20 | g.23637795G>T | CA408424398 | CST3 | c.68C>A (p.Pro23His) | gnomAD v4 |
20 | g.23637796G>A | CA408424399 | CST3 | c.67C>T (p.Pro23Ser) | gnomAD v4 |
20 | g.23637796G>C | CA408424400 | CST3 | c.67C>G (p.Pro23Ala) | |
20 | g.23637796G>T | CA408424401 | CST3 | c.67C>A (p.Pro23Thr) | |
20 | g.23637797G>A | CA313615485 | CST3 | c.66C>T (p.Ser22=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.23637797G>C | CA408424402 | CST3 | c.66C>G (p.Ser22Arg) | |
20 | g.23637797G= | CA2355967167 | CST3 | c.66C= (p.Ser22=) | |
20 | g.23637797G>T | CA408424403 | CST3 | c.66C>A (p.Ser22Arg) | |
20 | g.23637798C>A | CA408424404 | CST3 | c.65G>T (p.Ser22Ile) | |
20 | g.23637798C= | CA2355967168 | CST3 | c.65G= (p.Ser22=) | |
20 | g.23637798C>G | CA408424405 | CST3 | c.65G>C (p.Ser22Thr) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.23637798C>T | CA408424406 | CST3 | c.65G>A (p.Ser22Asn) | dbSNP gnomAD v4 |
20 | g.23637798_23637802del | CA2815583553 | CST3 | c.61_65del (p.Val21ProfsTer?) | |
20 | g.23637798_23637807del | CA2652172010 | CST3 | c.56_65del (p.Leu19ProfsTer14) c.56_65del (p.Leu19ProfsTer?) | gnomAD v4 |
20 | g.23637799T>A | CA313615490 | CST3 | c.64A>T (p.Ser22Cys) | dbSNP gnomAD v4 |
20 | g.23637799T>C | CA408424408 | CST3 | c.64A>G (p.Ser22Gly) | gnomAD v4 |
20 | g.23637799T>G | CA408424407 | CST3 | c.64A>C (p.Ser22Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.23637799T= | CA2355967170 | CST3 | c.64A= (p.Ser22=) | |
20 | g.23637799_23637811delinsTCACGGCCAGGGC | CA2355967169 | CST3 | c.52_64delinsGCCCTGGCCGTGA (p.Ala18=) | |
20 | g.23637800C>A | CA510163382 | CST3 | c.63G>T (p.Val21=) | gnomAD v4 |
20 | g.23637800C= | CA2355967171 | CST3 | c.63G= (p.Val21=) | |
20 | g.23637800C>G | CA313615495 | CST3 | c.63G>C (p.Val21=) | dbSNP gnomAD v4 |
20 | g.23637800C>T | CA313615498 | CST3 | c.63G>A (p.Val21=) | ClinVar dbSNP |
20 | g.23637802_23637807del | CA2652172011 | CST3 | c.58_63del (p.Ala20_Val21del) | gnomAD v4 |
20 | g.23637810_23637821dup | CA9790272 | CST3 | c.52_63dup (p.Val21_Ser22insAlaLeuAlaVal) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23637810_23637821del | CA635266201 | CST3 | c.52_63del (p.Ala18_Val21del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23637801A>C | CA408424409 | CST3 | c.62T>G (p.Val21Gly) | gnomAD v4 |
20 | g.23637801A>G | CA408424410 | CST3 | c.62T>C (p.Val21Ala) | gnomAD v4 |
20 | g.23637801A>T | CA408424411 | CST3 | c.62T>A (p.Val21Glu) | |
20 | g.23637802C>A | CA408424412 | CST3 | c.61G>T (p.Val21Leu) | gnomAD v4 |
20 | g.23637802C= | CA2355967172 | CST3 | c.61G= (p.Val21=) | |
20 | g.23637802C>G | CA408424413 | CST3 | c.61G>C (p.Val21Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.23637802C>T | CA408424414 | CST3 | c.61G>A (p.Val21Met) | gnomAD v4 |
20 | g.23637803G>A | CA510163383 | CST3 | c.60C>T (p.Ala20=) | gnomAD v4 |
20 | g.23637803G>C | CA510163384 | CST3 | c.60C>G (p.Ala20=) | gnomAD v4 |
20 | g.23637803G>T | CA510163385 | CST3 | c.60C>A (p.Ala20=) | gnomAD v4 |
20 | g.23637804G>A | CA408424415 | CST3 | c.59C>T (p.Ala20Val) | dbSNP gnomAD v4 |
20 | g.23637804G>C | CA408424416 | CST3 | c.59C>G (p.Ala20Gly) | |
20 | g.23637804G= | CA2355967173 | CST3 | c.59C= (p.Ala20=) | |
20 | g.23637804G>T | CA408424417 | CST3 | c.59C>A (p.Ala20Asp) | |
20 | g.23637805C>A | CA408424418 | CST3 | c.58G>T (p.Ala20Ser) | dbSNP gnomAD v4 |
20 | g.23637805C= | CA2355967174 | CST3 | c.58G= (p.Ala20=) | |
20 | g.23637805C>G | CA408424419 | CST3 | c.58G>C (p.Ala20Pro) | |
20 | g.23637805C>T | CA408424420 | CST3 | c.58G>A (p.Ala20Thr) | dbSNP gnomAD v2 gnomAD v4 |