| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.47572855_47572856del | CA2693583871 | SYN1 | c.*10_*11del (n.*10_*11del) c.*80_*81del (n.*80_*81del) c.178_179del (n.178_179del) | gnomAD v4 |
| X | g.47572856G>A | CA2563524881 | SYN1 | c.*8C>T (n.*8C>T) c.*78C>T (n.*78C>T) c.176C>T (n.176C>T) | |
| X | g.47572857T>C | CA2693583873 | SYN1 | c.*7A>G (n.*7A>G) c.*77A>G (n.*77A>G) c.175A>G (n.175A>G) | gnomAD v4 |
| X | g.47572858G>A | CA2579596630 | SYN1 | c.*6C>T (n.*6C>T) c.*76C>T (n.*76C>T) c.174C>T (n.174C>T) | |
| X | g.47572858G>C | CA10398323 | SYN1 | c.*6C>G (n.*6C>G) c.*76C>G (n.*76C>G) c.174C>G (n.174C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47572858G= | CA2427970780 | SYN1 | c.*6C= (n.*6C=) c.*76C= (n.*76C=) c.174C= (n.174C=) | |
| X | g.47572858G>T | CA10398322 | SYN1 | c.*6C>A (n.*6C>A) c.*76C>A (n.*76C>A) c.174C>A (n.174C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47572861G>T | CA2506358342 | SYN1 | c.*3C>A (n.*3C>A) c.*73C>A (n.*73C>A) c.171C>A (n.171C>A) | gnomAD v4 |
| X | g.47572862T= | CA2427970781 | SYN1 | c.*2A= (n.*2A=) c.*72A= (n.*72A=) c.170A= (n.170A=) | |
| X | g.47572862_47572863insTG | CA641483625 | SYN1 | c.*1_*2insCA (n.*1_*2insCA) c.*71_*72insCA (n.*71_*72insCA) c.169_170insCA (n.169_170insCA) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47572863A>G | CA2519294914 | SYN1 | c.*1T>C (n.*1T>C) c.*71T>C (n.*71T>C) c.169T>C (n.169T>C) | |
| X | g.47572864T>A | CA412820196 | SYN1 | c.2118A>T (p.Ter706Cys) c.*70A>T (n.*70A>T) c.168A>T (p.Ter56Cys) | |
| X | g.47572864T>C | CA412820193 | SYN1 | c.2118A>G (p.Ter706Trp) c.*70A>G (n.*70A>G) c.168A>G (p.Ter56Trp) | |
| X | g.47572864T>G | CA412820195 | SYN1 | c.2118A>C (p.Ter706Cys) c.*70A>C (n.*70A>C) c.168A>C (p.Ter56Cys) | |
| X | g.47572865C>A | CA412820199 | SYN1 | c.2117G>T (p.Ter706Leu) c.*69G>T (n.*69G>T) c.167G>T (p.Ter56Leu) | gnomAD v4 |
| X | g.47572865C= | CA2427970782 | SYN1 | c.2117G= (p.Ter706=) c.*69G= (n.*69G=) c.167G= (p.Ter56=) | |
| X | g.47572865C>G | CA412820201 | SYN1 | c.2117G>C (p.Ter706Ser) c.*69G>C (n.*69G>C) c.167G>C (p.Ter56Ser) | dbSNP |
| X | g.47572865C>T | CA515990897 | SYN1 | c.2117G>A (p.Ter706=) c.*69G>A (n.*69G>A) c.167G>A (p.Ter56=) | |
| X | g.47572866A>C | CA412820203 | SYN1 | c.2116T>G (p.Ter706Gly) c.*68T>G (n.*68T>G) c.166T>G (p.Ter56Gly) | |
| X | g.47572866A>G | CA412820204 | SYN1 | c.2116T>C (p.Ter706Arg) c.*68T>C (n.*68T>C) c.166T>C (p.Ter56Arg) | |
| X | g.47572866A>T | CA412820205 | SYN1 | c.2116T>A (p.Ter706Arg) c.*68T>A (n.*68T>A) c.166T>A (p.Ter56Arg) | |
| X | g.47572867G>A | CA515990898 | SYN1 | c.2115C>T (p.Asp705=) c.*67C>T (n.*67C>T) c.165C>T (p.Asp55=) | |
| X | g.47572867G>C | CA412820208 | SYN1 | c.2115C>G (p.Asp705Glu) c.*67C>G (n.*67C>G) c.165C>G (p.Asp55Glu) | |
| X | g.47572867G>T | CA412820210 | SYN1 | c.2115C>A (p.Asp705Glu) c.*67C>A (n.*67C>A) c.165C>A (p.Asp55Glu) | |
| X | g.47572868T>A | CA412820212 | SYN1 | c.2114A>T (p.Asp705Val) c.*66A>T (n.*66A>T) c.164A>T (p.Asp55Val) | |
| X | g.47572868T>C | CA412820214 | SYN1 | c.2114A>G (p.Asp705Gly) c.*66A>G (n.*66A>G) c.164A>G (p.Asp55Gly) | |
| X | g.47572868T>G | CA412820220 | SYN1 | c.2114A>C (p.Asp705Ala) c.*66A>C (n.*66A>C) c.164A>C (p.Asp55Ala) | |
| X | g.47572869C>A | CA412820224 | SYN1 | c.2113G>T (p.Asp705Tyr) c.*65G>T (n.*65G>T) c.163G>T (p.Asp55Tyr) | |
| X | g.47572869C= | CA2427970783 | SYN1 | c.2113G= (p.Asp705=) c.*65G= (n.*65G=) c.163G= (p.Asp55=) | |
| X | g.47572869C>G | CA412820226 | SYN1 | c.2113G>C (p.Asp705His) c.*65G>C (n.*65G>C) c.163G>C (p.Asp55His) | |
| X | g.47572869C>T | CA329056805 | SYN1 | c.2113G>A (p.Asp705Asn) c.*65G>A (n.*65G>A) c.163G>A (p.Asp55Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47572870G>A | CA515990899 | SYN1 | c.2112C>T (p.Ser704=) c.*64C>T (n.*64C>T) c.162C>T (p.Ser54=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.47572870G>C | CA515990901 | SYN1 | c.2112C>G (p.Ser704=) c.*64C>G (n.*64C>G) c.162C>G (p.Ser54=) | |
| X | g.47572870G= | CA2427970784 | SYN1 | c.2112C= (p.Ser704=) c.*64C= (n.*64C=) c.162C= (p.Ser54=) | |
| X | g.47572870G>T | CA515990900 | SYN1 | c.2112C>A (p.Ser704=) c.*64C>A (n.*64C>A) c.162C>A (p.Ser54=) | |
| X | g.47572870_47572871delinsTT | CA645603180 | SYN1 | c.2111_2112delinsAA (p.Ser704Ter) c.*63_*64delinsAA (n.*63_*64delinsAA) c.161_162delinsAA (p.Ser54Ter) | COSMIC |
| X | g.47572871G>A | CA412820230 | SYN1 | c.2111C>T (p.Ser704Phe) c.*63C>T (n.*63C>T) c.161C>T (p.Ser54Phe) | |
| X | g.47572871G>C | CA412820233 | SYN1 | c.2111C>G (p.Ser704Cys) c.*63C>G (n.*63C>G) c.161C>G (p.Ser54Cys) | |
| X | g.47572871G>T | CA412820232 | SYN1 | c.2111C>A (p.Ser704Tyr) c.*63C>A (n.*63C>A) c.161C>A (p.Ser54Tyr) | |
| X | g.47572872A>C | CA412820236 | SYN1 | c.2110T>G (p.Ser704Ala) c.*62T>G (n.*62T>G) c.160T>G (p.Ser54Ala) | |
| X | g.47572872A>G | CA412820238 | SYN1 | c.2110T>C (p.Ser704Pro) c.*62T>C (n.*62T>C) c.160T>C (p.Ser54Pro) | |
| X | g.47572872A>T | CA412820240 | SYN1 | c.2110T>A (p.Ser704Thr) c.*62T>A (n.*62T>A) c.160T>A (p.Ser54Thr) | |
| X | g.47572873G>A | CA515990905 | SYN1 | c.2109C>T (p.Phe703=) c.*61C>T (n.*61C>T) c.159C>T (p.Phe53=) | |
| X | g.47572873G>C | CA412820242 | SYN1 | c.2109C>G (p.Phe703Leu) c.*61C>G (n.*61C>G) c.159C>G (p.Phe53Leu) | |
| X | g.47572873G>T | CA412820244 | SYN1 | c.2109C>A (p.Phe703Leu) c.*61C>A (n.*61C>A) c.159C>A (p.Phe53Leu) | |
| X | g.47572874A>C | CA412820248 | SYN1 | c.2108T>G (p.Phe703Cys) c.*60T>G (n.*60T>G) c.158T>G (p.Phe53Cys) | |
| X | g.47572874A>G | CA412820250 | SYN1 | c.2108T>C (p.Phe703Ser) c.*60T>C (n.*60T>C) c.158T>C (p.Phe53Ser) | |
| X | g.47572874A>T | CA412820252 | SYN1 | c.2108T>A (p.Phe703Tyr) c.*60T>A (n.*60T>A) c.158T>A (p.Phe53Tyr) | |
| X | g.47572875A>C | CA412820255 | SYN1 | c.2107T>G (p.Phe703Val) c.*59T>G (n.*59T>G) c.157T>G (p.Phe53Val) | |
| X | g.47572875A>G | CA412820257 | SYN1 | c.2107T>C (p.Phe703Leu) c.*59T>C (n.*59T>C) c.157T>C (p.Phe53Leu) |