| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.23637790C>A | CA408424389 | CST3 | c.73G>T (p.Ala25Ser) | gnomAD v4 |
| 20 | g.23637790C= | CA2355967162 | CST3 | c.73G= (p.Ala25=) | |
| 20 | g.23637790C>G | CA408424390 | CST3 | c.73G>C (p.Ala25Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23637790C>T | CA117663 | CST3 | c.73G>A (p.Ala25Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23637791C>A | CA510163567 | CST3 | c.72G>T (p.Ala24=) | gnomAD v4 |
| 20 | g.23637791C= | CA2355967163 | CST3 | c.72G= (p.Ala24=) | |
| 20 | g.23637791C>G | CA510163568 | CST3 | c.72G>C (p.Ala24=) | gnomAD v4 |
| 20 | g.23637791C>T | CA9790271 | CST3 | c.72G>A (p.Ala24=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23637792G>A | CA408424391 | CST3 | c.71C>T (p.Ala24Val) | gnomAD v4 |
| 20 | g.23637792G>C | CA408424392 | CST3 | c.71C>G (p.Ala24Gly) | |
| 20 | g.23637792G>T | CA408424393 | CST3 | c.71C>A (p.Ala24Glu) | gnomAD v4 |
| 20 | g.23637793C>A | CA408424396 | CST3 | c.70G>T (p.Ala24Ser) | gnomAD v4 |
| 20 | g.23637793C= | CA2355967164 | CST3 | c.70G= (p.Ala24=) | |
| 20 | g.23637793C>G | CA408424395 | CST3 | c.70G>C (p.Ala24Pro) | dbSNP |
| 20 | g.23637793C>T | CA408424394 | CST3 | c.70G>A (p.Ala24Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23637794G>A | CA313615474 | CST3 | c.69C>T (p.Pro23=) | dbSNP gnomAD v4 |
| 20 | g.23637794G>C | CA510163380 | CST3 | c.69C>G (p.Pro23=) | |
| 20 | g.23637794G= | CA2355967165 | CST3 | c.69C= (p.Pro23=) | |
| 20 | g.23637794G>T | CA510163381 | CST3 | c.69C>A (p.Pro23=) | dbSNP gnomAD v2 gnomAD v4 |
| 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_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 |