Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.23637699A>C | CA408424207 | CST3 | c.164T>G (p.Phe55Cys) | |
20 | g.23637699A>G | CA408424208 | CST3 | c.164T>C (p.Phe55Ser) | gnomAD v4 |
20 | g.23637699A>T | CA408424209 | CST3 | c.164T>A (p.Phe55Tyr) | |
20 | g.23637700A= | CA2355967099 | CST3 | c.163T= (p.Phe55=) | |
20 | g.23637700A>C | CA408424210 | CST3 | c.163T>G (p.Phe55Val) | |
20 | g.23637700A>G | CA9790254 | CST3 | c.163T>C (p.Phe55Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23637700A>T | CA408424211 | CST3 | c.163T>A (p.Phe55Ile) | gnomAD v4 |
20 | g.23637701G>A | CA510163485 | CST3 | c.162C>T (p.Asp54=) | gnomAD v4 |
20 | g.23637701G>C | CA408424212 | CST3 | c.162C>G (p.Asp54Glu) | gnomAD v4 |
20 | g.23637701G>T | CA408424213 | CST3 | c.162C>A (p.Asp54Glu) | gnomAD v4 |
20 | g.23637702T>A | CA408424216 | CST3 | c.161A>T (p.Asp54Val) | |
20 | g.23637702T>C | CA408424215 | CST3 | c.161A>G (p.Asp54Gly) | gnomAD v4 |
20 | g.23637702T>G | CA408424214 | CST3 | c.161A>C (p.Asp54Ala) | |
20 | g.23637703C>A | CA408424217 | CST3 | c.160G>T (p.Asp54Tyr) | gnomAD v4 |
20 | g.23637703C= | CA2355967100 | CST3 | c.160G= (p.Asp54=) | |
20 | g.23637703C>G | CA408424218 | CST3 | c.160G>C (p.Asp54His) | |
20 | g.23637703C>T | CA408424219 | CST3 | c.160G>A (p.Asp54Asn) | dbSNP |
20 | g.23637704C>A | CA510163486 | CST3 | c.159G>T (p.Leu53=) | gnomAD v4 |
20 | g.23637704C= | CA2355967101 | CST3 | c.159G= (p.Leu53=) | |
20 | g.23637704C>G | CA510163487 | CST3 | c.159G>C (p.Leu53=) | |
20 | g.23637704C>T | CA9790255 | CST3 | c.159G>A (p.Leu53=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23637705A>C | CA408424220 | CST3 | c.158T>G (p.Leu53Arg) | |
20 | g.23637705A>G | CA408424221 | CST3 | c.158T>C (p.Leu53Pro) | gnomAD v4 |
20 | g.23637705A>T | CA408424222 | CST3 | c.158T>A (p.Leu53Gln) | |
20 | g.23637706G>A | CA510163488 | CST3 | c.157C>T (p.Leu53=) | |
20 | g.23637706G>C | CA408424224 | CST3 | c.157C>G (p.Leu53Val) | gnomAD v4 |
20 | g.23637706G>T | CA408424223 | CST3 | c.157C>A (p.Leu53Met) | gnomAD v4 |
20 | g.23637707T>A | CA510163489 | CST3 | c.156A>T (p.Ala52=) | gnomAD v4 |
20 | g.23637707T>C | CA510163490 | CST3 | c.156A>G (p.Ala52=) | gnomAD v4 |
20 | g.23637707T>G | CA510163491 | CST3 | c.156A>C (p.Ala52=) | gnomAD v4 |
20 | g.23637708G>A | CA408424225 | CST3 | c.155C>T (p.Ala52Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.23637708G>C | CA408424226 | CST3 | c.155C>G (p.Ala52Gly) | |
20 | g.23637708G= | CA2355967102 | CST3 | c.155C= (p.Ala52=) | |
20 | g.23637708G>T | CA408424227 | CST3 | c.155C>A (p.Ala52Glu) | gnomAD v4 |
20 | g.23637708_23637717delinsGCACGCCGCA | CA2355967103 | CST3 | c.146_155delinsTGCGGCGTGC (p.Val49=) | |
20 | g.23637709C>A | CA408424228 | CST3 | c.154G>T (p.Ala52Ser) | dbSNP gnomAD v4 |
20 | g.23637709C= | CA2355967105 | CST3 | c.154G= (p.Ala52=) | |
20 | g.23637709C>G | CA408424229 | CST3 | c.154G>C (p.Ala52Pro) | |
20 | g.23637709C>T | CA408424230 | CST3 | c.154G>A (p.Ala52Thr) | gnomAD v4 |
20 | g.23637712_23637720del | CA2355967104 | CST3 | c.146_154del (p.Val49_Arg51del) | dbSNP |
20 | g.23637710A>C | CA510163492 | CST3 | c.153T>G (p.Arg51=) | |
20 | g.23637710A>G | CA510163493 | CST3 | c.153T>C (p.Arg51=) | gnomAD v4 |
20 | g.23637710A>T | CA510163494 | CST3 | c.153T>A (p.Arg51=) | |
20 | g.23637711C>A | CA408424231 | CST3 | c.152G>T (p.Arg51Leu) | gnomAD v4 |
20 | g.23637711C>G | CA408424233 | CST3 | c.152G>C (p.Arg51Pro) | gnomAD v4 |
20 | g.23637711C>T | CA408424232 | CST3 | c.152G>A (p.Arg51His) | gnomAD v4 |
20 | g.23637712G>A | CA408424234 | CST3 | c.151C>T (p.Arg51Cys) | gnomAD v4 |
20 | g.23637712G>C | CA408424235 | CST3 | c.151C>G (p.Arg51Gly) | |
20 | g.23637712G>T | CA408424236 | CST3 | c.151C>A (p.Arg51Ser) | gnomAD v4 |
20 | g.23637713C>A | CA510163495 | CST3 | c.150G>T (p.Arg50=) | gnomAD v4 |