UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| X | g.47572875A>T | CA412820258 | SYN1 | c.2107T>A (p.Phe703Ile) c.*59T>A (n.*59T>A) c.157T>A (p.Phe53Ile) | |
| X | g.47572876G>A | CA10398324 | SYN1 | c.2106C>T (p.Leu702=) c.*58C>T (n.*58C>T) c.156C>T (p.Leu52=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.47572876G>C | CA515990906 | SYN1 | c.2106C>G (p.Leu702=) c.*58C>G (n.*58C>G) c.156C>G (p.Leu52=) | |
| X | g.47572876G= | CA2427970785 | SYN1 | c.2106C= (p.Leu702=) c.*58C= (n.*58C=) c.156C= (p.Leu52=) | |
| X | g.47572876G>T | CA515990907 | SYN1 | c.2106C>A (p.Leu702=) c.*58C>A (n.*58C>A) c.156C>A (p.Leu52=) | |
| X | g.47572877A= | CA2427970786 | SYN1 | c.2105T= (p.Leu702=) c.*57T= (n.*57T=) c.155T= (p.Leu52=) | |
| X | g.47572877A>C | CA412820266 | SYN1 | c.2105T>G (p.Leu702Arg) c.*57T>G (n.*57T>G) c.155T>G (p.Leu52Arg) | dbSNP |
| X | g.47572877A>G | CA412820262 | SYN1 | c.2105T>C (p.Leu702Pro) c.*57T>C (n.*57T>C) c.155T>C (p.Leu52Pro) | |
| X | g.47572877A>T | CA412820264 | SYN1 | c.2105T>A (p.Leu702His) c.*57T>A (n.*57T>A) c.155T>A (p.Leu52His) | |
| X | g.47572878G>A | CA412820268 | SYN1 | c.2104C>T (p.Leu702Phe) c.*56C>T (n.*56C>T) c.154C>T (p.Leu52Phe) | |
| X | g.47572878G>C | CA412820270 | SYN1 | c.2104C>G (p.Leu702Val) c.*56C>G (n.*56C>G) c.154C>G (p.Leu52Val) | |
| X | g.47572878G>T | CA412820272 | SYN1 | c.2104C>A (p.Leu702Ile) c.*56C>A (n.*56C>A) c.154C>A (p.Leu52Ile) | |
| X | g.47572879G>A | CA10398325 | SYN1 | c.2103C>T (p.Ser701=) c.*55C>T (n.*55C>T) c.153C>T (p.Ser51=) | dbSNP ExAC gnomAD v4 |
| X | g.47572879G>C | CA412820274 | SYN1 | c.2103C>G (p.Ser701Arg) c.*55C>G (n.*55C>G) c.153C>G (p.Ser51Arg) | |
| X | g.47572879G= | CA2427970787 | SYN1 | c.2103C= (p.Ser701=) c.*55C= (n.*55C=) c.153C= (p.Ser51=) | |
| X | g.47572879G>T | CA412820276 | SYN1 | c.2103C>A (p.Ser701Arg) c.*55C>A (n.*55C>A) c.153C>A (p.Ser51Arg) | |
| X | g.47572880C>A | CA412820279 | SYN1 | c.2102G>T (p.Ser701Ile) c.*54G>T (n.*54G>T) c.152G>T (p.Ser51Ile) | |
| X | g.47572880C= | CA2427970788 | SYN1 | c.2102G= (p.Ser701=) c.*54G= (n.*54G=) c.152G= (p.Ser51=) | |
| X | g.47572880C>G | CA412820280 | SYN1 | c.2102G>C (p.Ser701Thr) c.*54G>C (n.*54G>C) c.152G>C (p.Ser51Thr) | |
| X | g.47572880C>T | CA412820281 | SYN1 | c.2102G>A (p.Ser701Asn) c.*54G>A (n.*54G>A) c.152G>A (p.Ser51Asn) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47572881T>A | CA412820284 | SYN1 | c.2101A>T (p.Ser701Cys) c.*53A>T (n.*53A>T) c.151A>T (p.Ser51Cys) | |
| X | g.47572881T>C | CA412820286 | SYN1 | c.2101A>G (p.Ser701Gly) c.*53A>G (n.*53A>G) c.151A>G (p.Ser51Gly) | |
| X | g.47572881T>G | CA412820287 | SYN1 | c.2101A>C (p.Ser701Arg) c.*53A>C (n.*53A>C) c.151A>C (p.Ser51Arg) | |
| X | g.47572881T= | CA2427970789 | SYN1 | c.2101A= (p.Ser701=) c.*53A= (n.*53A=) c.151A= (p.Ser51=) | |
| X | g.47572882G>A | CA515990909 | SYN1 | c.2100C>T (p.Ala700=) c.*52C>T (n.*52C>T) c.150C>T (p.Ala50=) | |
| X | g.47572882G>C | CA515990910 | SYN1 | c.2100C>G (p.Ala700=) c.*52C>G (n.*52C>G) c.150C>G (p.Ala50=) | |
| X | g.47572882G>T | CA515990911 | SYN1 | c.2100C>A (p.Ala700=) c.*52C>A (n.*52C>A) c.150C>A (p.Ala50=) | |
| X | g.47572883dup | CA641483626 | SYN1 | c.2100dup (p.Ser701GlnfsTer24) c.*52dup (n.*52dup) c.150dup (p.Ser51GlnfsTer24) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47572883G>A | CA412820292 | SYN1 | c.2099C>T (p.Ala700Val) c.*51C>T (n.*51C>T) c.149C>T (p.Ala50Val) | |
| X | g.47572883G>C | CA412820293 | SYN1 | c.2099C>G (p.Ala700Gly) c.*51C>G (n.*51C>G) c.149C>G (p.Ala50Gly) | |
| X | g.47572883G>T | CA412820291 | SYN1 | c.2099C>A (p.Ala700Asp) c.*51C>A (n.*51C>A) c.149C>A (p.Ala50Asp) | |
| X | g.47572884C>A | CA412820296 | SYN1 | c.2098G>T (p.Ala700Ser) c.*50G>T (n.*50G>T) c.148G>T (p.Ala50Ser) | |
| X | g.47572884C= | CA2427970790 | SYN1 | c.2098G= (p.Ala700=) c.*50G= (n.*50G=) c.148G= (p.Ala50=) | |
| X | g.47572884C>G | CA10398326 | SYN1 | c.2098G>C (p.Ala700Pro) c.*50G>C (n.*50G>C) c.148G>C (p.Ala50Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.47572884C>T | CA412820298 | SYN1 | c.2098G>A (p.Ala700Thr) c.*50G>A (n.*50G>A) c.148G>A (p.Ala50Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.47572885G>A | CA515990912 | SYN1 | c.2097C>T (p.Phe699=) c.*49C>T (n.*49C>T) c.147C>T (p.Phe49=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47572885G>C | CA412820299 | SYN1 | c.2097C>G (p.Phe699Leu) c.*49C>G (n.*49C>G) c.147C>G (p.Phe49Leu) | |
| X | g.47572885G= | CA2427970791 | SYN1 | c.2097C= (p.Phe699=) c.*49C= (n.*49C=) c.147C= (p.Phe49=) | |
| X | g.47572885G>T | CA412820300 | SYN1 | c.2097C>A (p.Phe699Leu) c.*49C>A (n.*49C>A) c.147C>A (p.Phe49Leu) | |
| X | g.47572886A= | CA2427970792 | SYN1 | c.2096T= (p.Phe699=) c.*48T= (n.*48T=) c.146T= (p.Phe49=) | |
| X | g.47572886A>C | CA412820301 | SYN1 | c.2096T>G (p.Phe699Cys) c.*48T>G (n.*48T>G) c.146T>G (p.Phe49Cys) | |
| X | g.47572886A>G | CA10398327 | SYN1 | c.2096T>C (p.Phe699Ser) c.*48T>C (n.*48T>C) c.146T>C (p.Phe49Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.47572886A>T | CA412820302 | SYN1 | c.2096T>A (p.Phe699Tyr) c.*48T>A (n.*48T>A) c.146T>A (p.Phe49Tyr) | |
| X | g.47572888dup | CA2693583888 | SYN1 | c.2096dup (p.Ala700ArgfsTer25) c.*48dup (n.*48dup) c.146dup (p.Ala50ArgfsTer25) | gnomAD v4 |
| X | g.47572887A>C | CA412820304 | SYN1 | c.2095T>G (p.Phe699Val) c.*47T>G (n.*47T>G) c.145T>G (p.Phe49Val) | |
| X | g.47572887A>G | CA412820306 | SYN1 | c.2095T>C (p.Phe699Leu) c.*47T>C (n.*47T>C) c.145T>C (p.Phe49Leu) | |
| X | g.47572887A>T | CA412820308 | SYN1 | c.2095T>A (p.Phe699Ile) c.*47T>A (n.*47T>A) c.145T>A (p.Phe49Ile) | |
| X | g.47572888A>C | CA515990913 | SYN1 | c.2094T>G (p.Ser698=) c.*46T>G (n.*46T>G) c.144T>G (p.Ser48=) | |
| X | g.47572888A>G | CA515990914 | SYN1 | c.2094T>C (p.Ser698=) c.*46T>C (n.*46T>C) c.144T>C (p.Ser48=) | |
| X | g.47572888A>T | CA515990915 | SYN1 | c.2094T>A (p.Ser698=) c.*46T>A (n.*46T>A) c.144T>A (p.Ser48=) | |
| X | g.47572889G>A | CA412820310 | SYN1 | c.2093C>T (p.Ser698Phe) c.*45C>T (n.*45C>T) c.143C>T (p.Ser48Phe) | |
| X | g.47572889G>C | CA412820312 | SYN1 | c.2093C>G (p.Ser698Cys) c.*45C>G (n.*45C>G) c.143C>G (p.Ser48Cys) | |
| X | g.47572889G>T | CA412820314 | SYN1 | c.2093C>A (p.Ser698Tyr) c.*45C>A (n.*45C>A) c.143C>A (p.Ser48Tyr) | |
| X | g.47572890A>C | CA412820320 | SYN1 | c.2092T>G (p.Ser698Ala) c.*44T>G (n.*44T>G) c.142T>G (p.Ser48Ala) | |
| X | g.47572890A>G | CA412820322 | SYN1 | c.2092T>C (p.Ser698Pro) c.*44T>C (n.*44T>C) c.142T>C (p.Ser48Pro) | |
| X | g.47572890A>T | CA412820323 | SYN1 | c.2092T>A (p.Ser698Thr) c.*44T>A (n.*44T>A) c.142T>A (p.Ser48Thr) | |
| X | g.47572891C>A | CA412820328 | SYN1 | c.2091G>T (p.Lys697Asn) c.*43G>T (n.*43G>T) c.141G>T (p.Lys47Asn) | |
| X | g.47572891C>G | CA412820326 | SYN1 | c.2091G>C (p.Lys697Asn) c.*43G>C (n.*43G>C) c.141G>C (p.Lys47Asn) | |
| X | g.47572891C>T | CA515990916 | SYN1 | c.2091G>A (p.Lys697=) c.*43G>A (n.*43G>A) c.141G>A (p.Lys47=) | gnomAD v4 |
| X | g.47572892T>A | CA412820330 | SYN1 | c.2090A>T (p.Lys697Met) c.*42A>T (n.*42A>T) c.140A>T (p.Lys47Met) | |
| X | g.47572892T>C | CA412820332 | SYN1 | c.2090A>G (p.Lys697Arg) c.*42A>G (n.*42A>G) c.140A>G (p.Lys47Arg) | |
| X | g.47572892T>G | CA412820334 | SYN1 | c.2090A>C (p.Lys697Thr) c.*42A>C (n.*42A>C) c.140A>C (p.Lys47Thr) | |
| X | g.47572893T>A | CA412820340 | SYN1 | c.2089A>T (p.Lys697Ter) c.*41A>T (n.*41A>T) c.139A>T (p.Lys47Ter) | |
| X | g.47572893T>C | CA412820342 | SYN1 | c.2089A>G (p.Lys697Glu) c.*41A>G (n.*41A>G) c.139A>G (p.Lys47Glu) | |
| X | g.47572893T>G | CA412820344 | SYN1 | c.2089A>C (p.Lys697Gln) c.*41A>C (n.*41A>C) c.139A>C (p.Lys47Gln) | |
| X | g.47572894C>A | CA412820345 | SYN1 | c.2088G>T (p.Arg696Ser) c.*40G>T (n.*40G>T) c.138G>T (p.Arg46Ser) | |
| X | g.47572894C>G | CA412820346 | SYN1 | c.2088G>C (p.Arg696Ser) c.*40G>C (n.*40G>C) c.138G>C (p.Arg46Ser) | |
| X | g.47572894C>T | CA515990917 | SYN1 | c.2088G>A (p.Arg696=) c.*40G>A (n.*40G>A) c.138G>A (p.Arg46=) | |
| X | g.47572895del | CA2693583892 | SYN1 | c.2088del (p.Lys697SerfsTer14) c.*40del (n.*40del) c.138del (p.Lys47SerfsTer14) | gnomAD v4 |
| X | g.47572895C>A | CA412820347 | SYN1 | c.2087G>T (p.Arg696Met) c.*39G>T (n.*39G>T) c.137G>T (p.Arg46Met) | |
| X | g.47572895C>G | CA412820348 | SYN1 | c.2087G>C (p.Arg696Thr) c.*39G>C (n.*39G>C) c.137G>C (p.Arg46Thr) | |
| X | g.47572895C>T | CA412820349 | SYN1 | c.2087G>A (p.Arg696Lys) c.*39G>A (n.*39G>A) c.137G>A (p.Arg46Lys) | |
| X | g.47572896T>A | CA412820351 | SYN1 | c.2086A>T (p.Arg696Trp) c.*38A>T (n.*38A>T) c.136A>T (p.Arg46Trp) | |
| X | g.47572896T>C | CA412820352 | SYN1 | c.2086A>G (p.Arg696Gly) c.*38A>G (n.*38A>G) c.136A>G (p.Arg46Gly) | |
| X | g.47572896T>G | CA515990918 | SYN1 | c.2086A>C (p.Arg696=) c.*38A>C (n.*38A>C) c.136A>C (p.Arg46=) | |
| X | g.47572897C>A | CA515990919 | SYN1 | c.2085G>T (p.Leu695=) c.*37G>T (n.*37G>T) c.135G>T (p.Leu45=) | |
| X | g.47572897C>G | CA515990921 | SYN1 | c.2085G>C (p.Leu695=) c.*37G>C (n.*37G>C) c.135G>C (p.Leu45=) | |
| X | g.47572897C>T | CA515990920 | SYN1 | c.2085G>A (p.Leu695=) c.*37G>A (n.*37G>A) c.135G>A (p.Leu45=) | |
| X | g.47572898A= | CA2427970793 | SYN1 | c.2084T= (p.Leu695=) c.*36T= (n.*36T=) c.134T= (p.Leu45=) | |
| X | g.47572898A>C | CA412820354 | SYN1 | c.2084T>G (p.Leu695Arg) c.*36T>G (n.*36T>G) c.134T>G (p.Leu45Arg) | |
| X | g.47572898A>G | CA412820357 | SYN1 | c.2084T>C (p.Leu695Pro) c.*36T>C (n.*36T>C) c.134T>C (p.Leu45Pro) | |
| X | g.47572898A>T | CA412820355 | SYN1 | c.2084T>A (p.Leu695Gln) c.*36T>A (n.*36T>A) c.134T>A (p.Leu45Gln) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47572899G>A | CA515990922 | SYN1 | c.2083C>T (p.Leu695=) c.*35C>T (n.*35C>T) c.133C>T (p.Leu45=) | |
| X | g.47572899G>C | CA412820359 | SYN1 | c.2083C>G (p.Leu695Val) c.*35C>G (n.*35C>G) c.133C>G (p.Leu45Val) | |
| X | g.47572899G>T | CA412820361 | SYN1 | c.2083C>A (p.Leu695Met) c.*35C>A (n.*35C>A) c.133C>A (p.Leu45Met) | |
| X | g.47572900G>A | CA515990923 | SYN1 | c.2082C>T (p.Ser694=) c.*34C>T (n.*34C>T) c.132C>T (p.Ser44=) | |
| X | g.47572900G>C | CA412820363 | SYN1 | c.2082C>G (p.Ser694Arg) c.*34C>G (n.*34C>G) c.132C>G (p.Ser44Arg) | |
| X | g.47572900G>T | CA412820365 | SYN1 | c.2082C>A (p.Ser694Arg) c.*34C>A (n.*34C>A) c.132C>A (p.Ser44Arg) | |
| X | g.47572901C>A | CA412820367 | SYN1 | c.2081G>T (p.Ser694Ile) c.*33G>T (n.*33G>T) c.131G>T (p.Ser44Ile) | |
| X | g.47572901C= | CA2427970794 | SYN1 | c.2081G= (p.Ser694=) c.*33G= (n.*33G=) c.131G= (p.Ser44=) | |
| X | g.47572901C>G | CA10398328 | SYN1 | c.2081G>C (p.Ser694Thr) c.*33G>C (n.*33G>C) c.131G>C (p.Ser44Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.47572901C>T | CA412820370 | SYN1 | c.2081G>A (p.Ser694Asn) c.*33G>A (n.*33G>A) c.131G>A (p.Ser44Asn) | |
| X | g.47572902T>A | CA412820372 | SYN1 | c.2080A>T (p.Ser694Cys) c.*32A>T (n.*32A>T) c.130A>T (p.Ser44Cys) | |
| X | g.47572902T>C | CA412820374 | SYN1 | c.2080A>G (p.Ser694Gly) c.*32A>G (n.*32A>G) c.130A>G (p.Ser44Gly) | |
| X | g.47572902T>G | CA412820376 | SYN1 | c.2080A>C (p.Ser694Arg) c.*32A>C (n.*32A>C) c.130A>C (p.Ser44Arg) | |
| X | g.47572903G>A | CA515990925 | SYN1 | c.2079C>T (p.Arg693=) c.*31C>T (n.*31C>T) c.129C>T (p.Arg43=) | |
| X | g.47572903G>C | CA515990926 | SYN1 | c.2079C>G (p.Arg693=) c.*31C>G (n.*31C>G) c.129C>G (p.Arg43=) | |
| X | g.47572903G>T | CA515990927 | SYN1 | c.2079C>A (p.Arg693=) c.*31C>A (n.*31C>A) c.129C>A (p.Arg43=) | |
| X | g.47572904C>A | CA412820378 | SYN1 | c.2078G>T (p.Arg693Leu) c.*30G>T (n.*30G>T) c.128G>T (p.Arg43Leu) | |
| X | g.47572904C>G | CA412820379 | SYN1 | c.2078G>C (p.Arg693Pro) c.*30G>C (n.*30G>C) c.128G>C (p.Arg43Pro) | COSMIC |
| X | g.47572904C>T | CA412820381 | SYN1 | c.2078G>A (p.Arg693His) c.*30G>A (n.*30G>A) c.128G>A (p.Arg43His) | gnomAD v4 COSMIC |
| X | g.47572905G>A | CA412820384 | SYN1 | c.2077C>T (p.Arg693Cys) c.*29C>T (n.*29C>T) c.127C>T (p.Arg43Cys) | gnomAD v4 |
| X | g.47572905G>C | CA412820387 | SYN1 | c.2077C>G (p.Arg693Gly) c.*29C>G (n.*29C>G) c.127C>G (p.Arg43Gly) | |
| X | g.47572905G>T | CA412820385 | SYN1 | c.2077C>A (p.Arg693Ser) c.*29C>A (n.*29C>A) c.127C>A (p.Arg43Ser) | |
| X | g.47572906G>A | CA515990929 | SYN1 | c.2076C>T (p.Ile692=) c.*28C>T (n.*28C>T) c.126C>T (p.Ile42=) | |
| X | g.47572906G>C | CA412820389 | SYN1 | c.2076C>G (p.Ile692Met) c.*28C>G (n.*28C>G) c.126C>G (p.Ile42Met) | |
| X | g.47572906G>T | CA515990930 | SYN1 | c.2076C>A (p.Ile692=) c.*28C>A (n.*28C>A) c.126C>A (p.Ile42=) | |
| X | g.47572907A>C | CA412820391 | SYN1 | c.2075T>G (p.Ile692Ser) c.*27T>G (n.*27T>G) c.125T>G (p.Ile42Ser) | |
| X | g.47572907A>G | CA412820392 | SYN1 | c.2075T>C (p.Ile692Thr) c.*27T>C (n.*27T>C) c.125T>C (p.Ile42Thr) | |
| X | g.47572907A>T | CA412820393 | SYN1 | c.2075T>A (p.Ile692Asn) c.*27T>A (n.*27T>A) c.125T>A (p.Ile42Asn) | |
| X | g.47572908T>A | CA412820396 | SYN1 | c.2074A>T (p.Ile692Phe) c.*26A>T (n.*26A>T) c.124A>T (p.Ile42Phe) | |
| X | g.47572908T>C | CA412820397 | SYN1 | c.2074A>G (p.Ile692Val) c.*26A>G (n.*26A>G) c.124A>G (p.Ile42Val) | |
| X | g.47572908T>G | CA412820400 | SYN1 | c.2074A>C (p.Ile692Leu) c.*26A>C (n.*26A>C) c.124A>C (p.Ile42Leu) | gnomAD v4 |
| X | g.47572909G>A | CA515990936 | SYN1 | c.2073C>T (p.Thr691=) c.*25C>T (n.*25C>T) c.123C>T (p.Thr41=) | |
| X | g.47572909G>C | CA515990935 | SYN1 | c.2073C>G (p.Thr691=) c.*25C>G (n.*25C>G) c.123C>G (p.Thr41=) | COSMIC |
| X | g.47572909G>T | CA515990934 | SYN1 | c.2073C>A (p.Thr691=) c.*25C>A (n.*25C>A) c.123C>A (p.Thr41=) | |
| X | g.47572910G>A | CA412820402 | SYN1 | c.2072C>T (p.Thr691Ile) c.*24C>T (n.*24C>T) c.122C>T (p.Thr41Ile) | |
| X | g.47572910G>C | CA412820404 | SYN1 | c.2072C>G (p.Thr691Ser) c.*24C>G (n.*24C>G) c.122C>G (p.Thr41Ser) | |
| X | g.47572910G= | CA2427970795 | SYN1 | c.2072C= (p.Thr691=) c.*24C= (n.*24C=) c.122C= (p.Thr41=) | |
| X | g.47572910G>T | CA412820405 | SYN1 | c.2072C>A (p.Thr691Asn) c.*24C>A (n.*24C>A) c.122C>A (p.Thr41Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47572911T>A | CA412820408 | SYN1 | c.2071A>T (p.Thr691Ser) c.*23A>T (n.*23A>T) c.121A>T (p.Thr41Ser) | |
| X | g.47572911T>C | CA412820410 | SYN1 | c.2071A>G (p.Thr691Ala) c.*23A>G (n.*23A>G) c.121A>G (p.Thr41Ala) | |
| X | g.47572911T>G | CA412820407 | SYN1 | c.2071A>C (p.Thr691Pro) c.*23A>C (n.*23A>C) c.121A>C (p.Thr41Pro) | |
| X | g.47572912C>A | CA412820411 | SYN1 | c.2070G>T (p.Glu690Asp) c.*22G>T (n.*22G>T) c.120G>T (p.Glu40Asp) | |
| X | g.47572912C>G | CA412820412 | SYN1 | c.2070G>C (p.Glu690Asp) c.*22G>C (n.*22G>C) c.120G>C (p.Glu40Asp) | |
| X | g.47572912C>T | CA515990938 | SYN1 | c.2070G>A (p.Glu690=) c.*22G>A (n.*22G>A) c.120G>A (p.Glu40=) | |
| X | g.47572913T>A | CA412820414 | SYN1 | c.2069A>T (p.Glu690Val) c.*21A>T (n.*21A>T) c.119A>T (p.Glu40Val) | |
| X | g.47572913T>C | CA412820416 | SYN1 | c.2069A>G (p.Glu690Gly) c.*21A>G (n.*21A>G) c.119A>G (p.Glu40Gly) | |
| X | g.47572913T>G | CA412820418 | SYN1 | c.2069A>C (p.Glu690Ala) c.*21A>C (n.*21A>C) c.119A>C (p.Glu40Ala) | |
| X | g.47572914C>A | CA412820420 | SYN1 | c.2068G>T (p.Glu690Ter) c.*20G>T (n.*20G>T) c.118G>T (p.Glu40Ter) | |
| X | g.47572914C>G | CA412820422 | SYN1 | c.2068G>C (p.Glu690Gln) c.*20G>C (n.*20G>C) c.118G>C (p.Glu40Gln) | COSMIC |
| X | g.47572914C>T | CA412820424 | SYN1 | c.2068G>A (p.Glu690Lys) c.*20G>A (n.*20G>A) c.118G>A (p.Glu40Lys) | |
| X | g.47572915A>C | CA515990939 | SYN1 | c.2067T>G (p.Ala689=) c.*19T>G (n.*19T>G) c.117T>G (p.Ala39=) | |
| X | g.47572915A>G | CA515990941 | SYN1 | c.2067T>C (p.Ala689=) c.*19T>C (n.*19T>C) c.117T>C (p.Ala39=) | |
| X | g.47572915A>T | CA515990940 | SYN1 | c.2067T>A (p.Ala689=) c.*19T>A (n.*19T>A) c.117T>A (p.Ala39=) | gnomAD v4 |
| X | g.47572916G>A | CA412820426 | SYN1 | c.2066C>T (p.Ala689Val) c.*18C>T (n.*18C>T) c.116C>T (p.Ala39Val) | |
| X | g.47572916G>C | CA412820427 | SYN1 | c.2066C>G (p.Ala689Gly) c.*18C>G (n.*18C>G) c.116C>G (p.Ala39Gly) | |
| X | g.47572916G>T | CA412820428 | SYN1 | c.2066C>A (p.Ala689Asp) c.*18C>A (n.*18C>A) c.116C>A (p.Ala39Asp) | dbSNP |
| X | g.47572917C>A | CA412820429 | SYN1 | c.2065G>T (p.Ala689Ser) c.*17G>T (n.*17G>T) c.115G>T (p.Ala39Ser) | |
| X | g.47572917C>G | CA412820430 | SYN1 | c.2065G>C (p.Ala689Pro) c.*17G>C (n.*17G>C) c.115G>C (p.Ala39Pro) | |
| X | g.47572917C>T | CA412820431 | SYN1 | c.2065G>A (p.Ala689Thr) c.*17G>A (n.*17G>A) c.115G>A (p.Ala39Thr) | |
| X | g.47572918T>A | CA412820433 | SYN1 | c.2064A>T (p.Lys688Asn) c.*16A>T (n.*16A>T) c.114A>T (p.Lys38Asn) | |
| X | g.47572918T>C | CA515990943 | SYN1 | c.2064A>G (p.Lys688=) c.*16A>G (n.*16A>G) c.114A>G (p.Lys38=) | |
| X | g.47572918T>G | CA412820432 | SYN1 | c.2064A>C (p.Lys688Asn) c.*16A>C (n.*16A>C) c.114A>C (p.Lys38Asn) | |
| X | g.47572919T>A | CA412820434 | SYN1 | c.2063A>T (p.Lys688Ile) c.*15A>T (n.*15A>T) c.113A>T (p.Lys38Ile) | |
| X | g.47572919T>C | CA412820435 | SYN1 | c.2063A>G (p.Lys688Arg) c.*15A>G (n.*15A>G) c.113A>G (p.Lys38Arg) | |
| X | g.47572919T>G | CA412820436 | SYN1 | c.2063A>C (p.Lys688Thr) c.*15A>C (n.*15A>C) c.113A>C (p.Lys38Thr) | |
| X | g.47572920T>A | CA412820437 | SYN1 | c.2062A>T (p.Lys688Ter) c.*14A>T (n.*14A>T) c.112A>T (p.Lys38Ter) | |
| X | g.47572920T>C | CA412820439 | SYN1 | c.2062A>G (p.Lys688Glu) c.*14A>G (n.*14A>G) c.112A>G (p.Lys38Glu) | |
| X | g.47572920T>G | CA412820441 | SYN1 | c.2062A>C (p.Lys688Gln) c.*14A>C (n.*14A>C) c.112A>C (p.Lys38Gln) | |
| X | g.47572921C>A | CA515990944 | SYN1 | c.2061G>T (p.Val687=) c.*13G>T (n.*13G>T) c.111G>T (p.Val37=) | |
| X | g.47572921C>G | CA515990945 | SYN1 | c.2061G>C (p.Val687=) c.*13G>C (n.*13G>C) c.111G>C (p.Val37=) | |
| X | g.47572921C>T | CA515990946 | SYN1 | c.2061G>A (p.Val687=) c.*13G>A (n.*13G>A) c.111G>A (p.Val37=) | |
| X | g.47572922A>C | CA412820445 | SYN1 | c.2060T>G (p.Val687Gly) c.*12T>G (n.*12T>G) c.110T>G (p.Val37Gly) | |
| X | g.47572922A>G | CA412820443 | SYN1 | c.2060T>C (p.Val687Ala) c.*12T>C (n.*12T>C) c.110T>C (p.Val37Ala) | |
| X | g.47572922A>T | CA412820444 | SYN1 | c.2060T>A (p.Val687Glu) c.*12T>A (n.*12T>A) c.110T>A (p.Val37Glu) | |
| X | g.47572923C>A | CA412820446 | SYN1 | c.2059G>T (p.Val687Leu) c.*11G>T (n.*11G>T) c.109G>T (p.Val37Leu) | |
| X | g.47572923C= | CA2427970796 | SYN1 | c.2059G= (p.Val687=) c.*11G= (n.*11G=) c.109G= (p.Val37=) | |
| X | g.47572923C>G | CA412820447 | SYN1 | c.2059G>C (p.Val687Leu) c.*11G>C (n.*11G>C) c.109G>C (p.Val37Leu) | |
| X | g.47572923C>T | CA412820448 | SYN1 | c.2059G>A (p.Val687Met) c.*11G>A (n.*11G>A) c.109G>A (p.Val37Met) | dbSNP gnomAD v4 |
| X | g.47572924C>A | CA412820449 | SYN1 | c.2058G>T (p.Glu686Asp) c.*10G>T (n.*10G>T) c.108G>T (p.Glu36Asp) | |
| X | g.47572924C>G | CA412820450 | SYN1 | c.2058G>C (p.Glu686Asp) c.*10G>C (n.*10G>C) c.108G>C (p.Glu36Asp) | COSMIC |
| X | g.47572924C>T | CA515990948 | SYN1 | c.2058G>A (p.Glu686=) c.*10G>A (n.*10G>A) c.108G>A (p.Glu36=) | |
| X | g.47572925T>A | CA412820451 | SYN1 | c.2057A>T (p.Glu686Val) c.*9A>T (n.*9A>T) c.107A>T (p.Glu36Val) | |
| X | g.47572925T>C | CA412820454 | SYN1 | c.2057A>G (p.Glu686Gly) c.*9A>G (n.*9A>G) c.107A>G (p.Glu36Gly) | |
| X | g.47572925T>G | CA412820452 | SYN1 | c.2057A>C (p.Glu686Ala) c.*9A>C (n.*9A>C) c.107A>C (p.Glu36Ala) | |
| X | g.47572926C>A | CA412820456 | SYN1 | c.2056G>T (p.Glu686Ter) c.*8G>T (n.*8G>T) c.106G>T (p.Glu36Ter) | |
| X | g.47572926C= | CA2427970797 | SYN1 | c.2056G= (p.Glu686=) c.*8G= (n.*8G=) c.106G= (p.Glu36=) | |
| X | g.47572926C>G | CA412820458 | SYN1 | c.2056G>C (p.Glu686Gln) c.*8G>C (n.*8G>C) c.106G>C (p.Glu36Gln) | |
| X | g.47572926C>T | CA412820460 | SYN1 | c.2056G>A (p.Glu686Lys) c.*8G>A (n.*8G>A) c.106G>A (p.Glu36Lys) | dbSNP |
| X | g.47572927G>A | CA10398329 | SYN1 | c.2055C>T (p.Asp685=) c.*7C>T (n.*7C>T) c.105C>T (p.Asp35=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47572927G>C | CA412820463 | SYN1 | c.2055C>G (p.Asp685Glu) c.*7C>G (n.*7C>G) c.105C>G (p.Asp35Glu) | |
| X | g.47572927G= | CA2427970798 | SYN1 | c.2055C= (p.Asp685=) c.*7C= (n.*7C=) c.105C= (p.Asp35=) | |
| X | g.47572927G>T | CA412820465 | SYN1 | c.2055C>A (p.Asp685Glu) c.*7C>A (n.*7C>A) c.105C>A (p.Asp35Glu) | |
| X | g.47572928T>A | CA412820471 | SYN1 | c.2054A>T (p.Asp685Val) c.*6A>T (n.*6A>T) c.104A>T (p.Asp35Val) | |
| X | g.47572928T>C | CA412820468 | SYN1 | c.2054A>G (p.Asp685Gly) c.*6A>G (n.*6A>G) c.104A>G (p.Asp35Gly) | |
| X | g.47572928T>G | CA412820469 | SYN1 | c.2054A>C (p.Asp685Ala) c.*6A>C (n.*6A>C) c.104A>C (p.Asp35Ala) | |
| X | g.47572929C>A | CA412820474 | SYN1 | c.2053G>T (p.Asp685Tyr) c.*5G>T (n.*5G>T) c.103G>T (p.Asp35Tyr) | |
| X | g.47572929C>G | CA412820475 | SYN1 | c.2053G>C (p.Asp685His) c.*5G>C (n.*5G>C) c.103G>C (p.Asp35His) | |
| X | g.47572929C>T | CA412820476 | SYN1 | c.2053G>A (p.Asp685Asn) c.*5G>A (n.*5G>A) c.103G>A (p.Asp35Asn) | |
| X | g.47572930C>A | CA412820479 | SYN1 | c.2052G>T (p.Gln684His) c.*4G>T (n.*4G>T) c.102G>T (p.Gln34His) | |
| X | g.47572930C>G | CA412820481 | SYN1 | c.2052G>C (p.Gln684His) c.*4G>C (n.*4G>C) c.102G>C (p.Gln34His) | |
| X | g.47572930C>T | CA515990953 | SYN1 | c.2052G>A (p.Gln684=) c.*4G>A (n.*4G>A) c.102G>A (p.Gln34=) | |
| X | g.47572931T>A | CA412820483 | SYN1 | c.2051A>T (p.Gln684Leu) c.*3A>T (n.*3A>T) c.101A>T (p.Gln34Leu) | |
| X | g.47572931T>C | CA412820486 | SYN1 | c.2051A>G (p.Gln684Arg) c.*3A>G (n.*3A>G) c.101A>G (p.Gln34Arg) | |
| X | g.47572931T>G | CA412820485 | SYN1 | c.2051A>C (p.Gln684Pro) c.*3A>C (n.*3A>C) c.101A>C (p.Gln34Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.47572931T= | CA2427970799 | SYN1 | c.2051A= (p.Gln684=) c.*3A= (n.*3A=) c.101A= (p.Gln34=) | |
| X | g.47572932G>A | CA412820487 | SYN1 | c.2050C>T (p.Gln684Ter) c.*2C>T (n.*2C>T) c.100C>T (p.Gln34Ter) | |
| X | g.47572932G>C | CA412820488 | SYN1 | c.2050C>G (p.Gln684Glu) c.*2C>G (n.*2C>G) c.100C>G (p.Gln34Glu) | gnomAD v4 |
| X | g.47572932G>T | CA412820489 | SYN1 | c.2050C>A (p.Gln684Lys) c.*2C>A (n.*2C>A) c.100C>A (p.Gln34Lys) | |
| X | g.47572933G>A | CA515990954 | SYN1 | c.2049C>T (p.Ser683=) c.*1C>T (n.*1C>T) c.99C>T (p.Ser33=) | |
| X | g.47572933G>C | CA412820490 | SYN1 | c.2049C>G (p.Ser683Arg) c.*1C>G (n.*1C>G) c.99C>G (p.Ser33Arg) | gnomAD v4 |
| X | g.47572933G>T | CA412820492 | SYN1 | c.2049C>A (p.Ser683Arg) c.*1C>A (n.*1C>A) c.99C>A (p.Ser33Arg) | |
| X | g.47572934C>A | CA412820494 | SYN1 | c.2048G>T (p.Ser683Ile) c.2010G>T (p.Ter670Tyr) c.98G>T (p.Ser33Ile) | |
| X | g.47572934C>G | CA412820496 | SYN1 | c.2048G>C (p.Ser683Thr) c.2010G>C (p.Ter670Tyr) c.98G>C (p.Ser33Thr) | |
| X | g.47572934C>T | CA412820498 | SYN1 | c.2048G>A (p.Ser683Asn) c.2010G>A (p.Ter670=) c.98G>A (p.Ser33Asn) | |
| X | g.47572935del | CA2693583914 | SYN1 | c.2047del (p.Ser683AlafsTer5) c.2009del (p.Ter670CysextTer24) c.97del (p.Ser33AlafsTer5) | gnomAD v4 |
| X | g.47572935T>A | CA412820501 | SYN1 | c.2047A>T (p.Ser683Cys) c.2009A>T (p.Ter670Leu) c.97A>T (p.Ser33Cys) | |
| X | g.47572935T>C | CA412820502 | SYN1 | c.2047A>G (p.Ser683Gly) c.2009A>G (p.Ter670Trp) c.97A>G (p.Ser33Gly) | |
| X | g.47572935T>G | CA412820504 | SYN1 | c.2047A>C (p.Ser683Arg) c.2009A>C (p.Ter670Ser) c.97A>C (p.Ser33Arg) | |
| X | g.47572936A>C | CA412820509 | SYN1 | c.2046T>G (p.Leu682=) c.2008T>G (p.Ter670Glu) c.96T>G (p.Leu32=) | |
| X | g.47572936A>G | CA412820511 | SYN1 | c.2046T>C (p.Leu682=) c.2008T>C (p.Ter670Gln) c.96T>C (p.Leu32=) | |
| X | g.47572936A>T | CA412820508 | SYN1 | c.2046T>A (p.Leu682=) c.2008T>A (p.Ter670Lys) c.96T>A (p.Leu32=) | |
| X | g.47572937A= | CA2427970800 | SYN1 | c.2045T= (p.Leu682=) c.2007T= (p.Pro669=) c.95T= (p.Leu32=) | |
| X | g.47572937A>C | CA412820512 | SYN1 | c.2045T>G (p.Leu682Arg) c.2007T>G (p.Pro669=) c.95T>G (p.Leu32Arg) | dbSNP |
| X | g.47572937A>G | CA412820513 | SYN1 | c.2045T>C (p.Leu682Pro) c.2007T>C (p.Pro669=) c.95T>C (p.Leu32Pro) | |
| X | g.47572937A>T | CA412820514 | SYN1 | c.2045T>A (p.Leu682His) c.2007T>A (p.Pro669=) c.95T>A (p.Leu32His) | |
| X | g.47572938G>A | CA412820515 | SYN1 | c.2044C>T (p.Leu682Phe) c.2006C>T (p.Pro669Leu) c.94C>T (p.Leu32Phe) | ClinVar dbSNP gnomAD v4 |
| X | g.47572938G>C | CA412820516 | SYN1 | c.2044C>G (p.Leu682Val) c.2006C>G (p.Pro669Arg) c.94C>G (p.Leu32Val) | |
| X | g.47572938G>T | CA412820517 | SYN1 | c.2044C>A (p.Leu682Ile) c.2006C>A (p.Pro669His) c.94C>A (p.Leu32Ile) | |
| X | g.47572939G>A | CA412820523 | SYN1 | c.2043C>T (p.Ser681=) c.2005C>T (p.Pro669Ser) c.93C>T (p.Ser31=) | ClinVar |
| X | g.47572939G>C | CA412820519 | SYN1 | c.2043C>G (p.Ser681Arg) c.2005C>G (p.Pro669Ala) c.93C>G (p.Ser31Arg) | |
| X | g.47572939G= | CA2427970801 | SYN1 | c.2043C= (p.Ser681=) c.2005C= (p.Pro669=) c.93C= (p.Ser31=) | |
| X | g.47572939G>T | CA329056840 | SYN1 | c.2043C>A (p.Ser681Arg) c.2005C>A (p.Pro669Thr) c.93C>A (p.Ser31Arg) | dbSNP gnomAD v4 |
| X | g.47572940C>A | CA412820525 | SYN1 | c.2042G>T (p.Ser681Ile) c.2004G>T (p.Gln668His) c.92G>T (p.Ser31Ile) | |
| X | g.47572940C= | CA2427970802 | SYN1 | c.2042G= (p.Ser681=) c.2004G= (p.Gln668=) c.92G= (p.Ser31=) | |
| X | g.47572940C>G | CA412820527 | SYN1 | c.2042G>C (p.Ser681Thr) c.2004G>C (p.Gln668His) c.92G>C (p.Ser31Thr) | |
| X | g.47572940C>T | CA412820529 | SYN1 | c.2042G>A (p.Ser681Asn) c.2004G>A (p.Gln668=) c.92G>A (p.Ser31Asn) | dbSNP gnomAD v4 |
| X | g.47572941T>A | CA412820531 | SYN1 | c.2041A>T (p.Ser681Cys) c.2003A>T (p.Gln668Leu) c.91A>T (p.Ser31Cys) | |
| X | g.47572941T>C | CA412820533 | SYN1 | c.2041A>G (p.Ser681Gly) c.2003A>G (p.Gln668Arg) c.91A>G (p.Ser31Gly) | |
| X | g.47572941T>G | CA412820535 | SYN1 | c.2041A>C (p.Ser681Arg) c.2003A>C (p.Gln668Pro) c.91A>C (p.Ser31Arg) | |
| X | g.47572942G>A | CA412820537 | SYN1 | c.2040C>T (p.Pro680=) c.2002C>T (p.Gln668Ter) c.90C>T (p.Pro30=) | |
| X | g.47572942G>C | CA412820541 | SYN1 | c.2040C>G (p.Pro680=) c.2002C>G (p.Gln668Glu) c.90C>G (p.Pro30=) | |
| X | g.47572942G>T | CA412820539 | SYN1 | c.2040C>A (p.Pro680=) c.2002C>A (p.Gln668Lys) c.90C>A (p.Pro30=) | |
| X | g.47572943G>A | CA412820550 | SYN1 | c.2039C>T (p.Pro680Leu) c.2001C>T (p.Ala667=) c.89C>T (p.Pro30Leu) | |
| X | g.47572943G>C | CA412820551 | SYN1 | c.2039C>G (p.Pro680Arg) c.2001C>G (p.Ala667=) c.89C>G (p.Pro30Arg) | |
| X | g.47572943G>T | CA412820553 | SYN1 | c.2039C>A (p.Pro680His) c.2001C>A (p.Ala667=) c.89C>A (p.Pro30His) | |
| X | g.47572944G>A | CA412820556 | SYN1 | c.2038C>T (p.Pro680Ser) c.2000C>T (p.Ala667Val) c.88C>T (p.Pro30Ser) | |
| X | g.47572944G>C | CA412820558 | SYN1 | c.2038C>G (p.Pro680Ala) c.2000C>G (p.Ala667Gly) c.88C>G (p.Pro30Ala) | |
| X | g.47572944G>T | CA412820560 | SYN1 | c.2038C>A (p.Pro680Thr) c.2000C>A (p.Ala667Asp) c.88C>A (p.Pro30Thr) | |
| X | g.47572945C>A | CA412820562 | SYN1 | c.2037G>T (p.Arg679Ser) c.1999G>T (p.Ala667Ser) c.87G>T (p.Arg29Ser) | |
| X | g.47572945C>G | CA412820567 | SYN1 | c.2037G>C (p.Arg679Ser) c.1999G>C (p.Ala667Pro) c.87G>C (p.Arg29Ser) | |
| X | g.47572945C>T | CA412820569 | SYN1 | c.2037G>A (p.Arg679=) c.1999G>A (p.Ala667Thr) c.87G>A (p.Arg29=) | COSMIC COSMIC |
| X | g.47572946C>A | CA412820571 | SYN1 | c.2036G>T (p.Arg679Met) c.1998G>T (p.Gln666His) c.86G>T (p.Arg29Met) | |
| X | g.47572946C>G | CA412820573 | SYN1 | c.2036G>C (p.Arg679Thr) c.1998G>C (p.Gln666His) c.86G>C (p.Arg29Thr) | |
| X | g.47572946C>T | CA412820575 | SYN1 | c.2036G>A (p.Arg679Lys) c.1998G>A (p.Gln666=) c.86G>A (p.Arg29Lys) | |
| X | g.47572947T>A | CA412820579 | SYN1 | c.2035A>T (p.Arg679Trp) c.1997A>T (p.Gln666Leu) c.85A>T (p.Arg29Trp) | |
| X | g.47572947T>C | CA412820576 | SYN1 | c.2035A>G (p.Arg679Gly) c.1997A>G (p.Gln666Arg) c.85A>G (p.Arg29Gly) | gnomAD v4 |
| X | g.47572947T>G | CA412820578 | SYN1 | c.2035A>C (p.Arg679=) c.1997A>C (p.Gln666Pro) c.85A>C (p.Arg29=) | |
| X | g.47572948G>A | CA412820581 | SYN1 | c.2034C>T (p.Pro678=) c.1996C>T (p.Gln666Ter) c.84C>T (p.Pro28=) | |
| X | g.47572948G>C | CA412820583 | SYN1 | c.2034C>G (p.Pro678=) c.1996C>G (p.Gln666Glu) c.84C>G (p.Pro28=) | |
| X | g.47572948G>T | CA412820586 | SYN1 | c.2034C>A (p.Pro678=) c.1996C>A (p.Gln666Lys) c.84C>A (p.Pro28=) | |
| X | g.47572949G>A | CA412820589 | SYN1 | c.2033C>T (p.Pro678Leu) c.1995C>T (p.Ala665=) c.83C>T (p.Pro28Leu) | |
| X | g.47572949G>C | CA412820591 | SYN1 | c.2033C>G (p.Pro678Arg) c.1995C>G (p.Ala665=) c.83C>G (p.Pro28Arg) | |
| X | g.47572949G>T | CA412820593 | SYN1 | c.2033C>A (p.Pro678His) c.1995C>A (p.Ala665=) c.83C>A (p.Pro28His) | |
| X | g.47572950G>A | CA412820600 | SYN1 | c.2032C>T (p.Pro678Ser) c.1994C>T (p.Ala665Val) c.82C>T (p.Pro28Ser) | |
| X | g.47572950G>C | CA412820598 | SYN1 | c.2032C>G (p.Pro678Ala) c.1994C>G (p.Ala665Gly) c.82C>G (p.Pro28Ala) | |
| X | g.47572950G>T | CA412820596 | SYN1 | c.2032C>A (p.Pro678Thr) c.1994C>A (p.Ala665Asp) c.82C>A (p.Pro28Thr) | |
| X | g.47572951C>A | CA412820602 | SYN1 | c.2031G>T (p.Pro677=) c.1993G>T (p.Ala665Ser) c.81G>T (p.Pro27=) | COSMIC COSMIC |
| X | g.47572951C>G | CA412820604 | SYN1 | c.2031G>C (p.Pro677=) c.1993G>C (p.Ala665Pro) c.81G>C (p.Pro27=) | |
| X | g.47572951C>T | CA412820606 | SYN1 | c.2031G>A (p.Pro677=) c.1993G>A (p.Ala665Thr) c.81G>A (p.Pro27=) | gnomAD v4 |
| X | g.47572952G>A | CA329056845 | SYN1 | c.2030C>T (p.Pro677Leu) c.1992C>T (p.Pro664=) c.80C>T (p.Pro27Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47572952G>C | CA412820609 | SYN1 | c.2030C>G (p.Pro677Arg) c.1992C>G (p.Pro664=) c.80C>G (p.Pro27Arg) | |
| X | g.47572952G= | CA2427970803 | SYN1 | c.2030C= (p.Pro677=) c.1992C= (p.Pro664=) c.80C= (p.Pro27=) | |
| X | g.47572952G>T | CA412820611 | SYN1 | c.2030C>A (p.Pro677Gln) c.1992C>A (p.Pro664=) c.80C>A (p.Pro27Gln) | COSMIC COSMIC |
| X | g.47572953G>A | CA412820613 | SYN1 | c.2029C>T (p.Pro677Ser) c.1991C>T (p.Pro664Leu) c.79C>T (p.Pro27Ser) | |
| X | g.47572953G>C | CA412820616 | SYN1 | c.2029C>G (p.Pro677Ala) c.1991C>G (p.Pro664Arg) c.79C>G (p.Pro27Ala) | |
| X | g.47572953G>T | CA412820614 | SYN1 | c.2029C>A (p.Pro677Thr) c.1991C>A (p.Pro664His) c.79C>A (p.Pro27Thr) | |
| X | g.47572954G>A | CA412820618 | SYN1 | c.2028C>T (p.Ala676=) c.1990C>T (p.Pro664Ser) c.78C>T (p.Ala26=) | ClinVar dbSNP gnomAD v4 |
| X | g.47572954G>C | CA412820620 | SYN1 | c.2028C>G (p.Ala676=) c.1990C>G (p.Pro664Ala) c.78C>G (p.Ala26=) | |
| X | g.47572954G= | CA2427970804 | SYN1 | c.2028C= (p.Ala676=) c.1990C= (p.Pro664=) c.78C= (p.Ala26=) | |
| X | g.47572954G>T | CA412820625 | SYN1 | c.2028C>A (p.Ala676=) c.1990C>A (p.Pro664Thr) c.78C>A (p.Ala26=) | |
| X | g.47572955G>A | CA412820626 | SYN1 | c.2027C>T (p.Ala676Val) c.1989C>T (p.Ser663=) c.77C>T (p.Ala26Val) | |
| X | g.47572955G>C | CA412820628 | SYN1 | c.2027C>G (p.Ala676Gly) c.1989C>G (p.Ser663Arg) c.77C>G (p.Ala26Gly) | |
| X | g.47572955G>T | CA412820630 | SYN1 | c.2027C>A (p.Ala676Asp) c.1989C>A (p.Ser663Arg) c.77C>A (p.Ala26Asp) | |
| X | g.47572955_47572956delinsGC | CA2427970805 | SYN1 | c.2026_2027delinsGC (p.Ala676=) c.1988_1989delinsGC (p.Ser663=) c.76_77delinsGC (p.Ala26=) | |
| X | g.47572956del | CA16621892 | SYN1 | c.2026del (p.Ala676ProfsTer12) c.1988del (p.Ser663ThrfsTer?) c.76del (p.Ala26ProfsTer12) | ClinVar dbSNP |
| X | g.47572956C>A | CA412820632 | SYN1 | c.2026G>T (p.Ala676Ser) c.1988G>T (p.Ser663Ile) c.76G>T (p.Ala26Ser) | |
| X | g.47572956C>G | CA412820633 | SYN1 | c.2026G>C (p.Ala676Pro) c.1988G>C (p.Ser663Thr) c.76G>C (p.Ala26Pro) | |
| X | g.47572956C>T | CA412820635 | SYN1 | c.2026G>A (p.Ala676Thr) c.1988G>A (p.Ser663Asn) c.76G>A (p.Ala26Thr) | |
| X | g.47572957T>A | CA412820638 | SYN1 | c.2025A>T (p.Pro675=) c.1987A>T (p.Ser663Cys) c.75A>T (p.Pro25=) | |
| X | g.47572957T>C | CA412820640 | SYN1 | c.2025A>G (p.Pro675=) c.1987A>G (p.Ser663Gly) c.75A>G (p.Pro25=) | |
| X | g.47572957T>G | CA412820642 | SYN1 | c.2025A>C (p.Pro675=) c.1987A>C (p.Ser663Arg) c.75A>C (p.Pro25=) | |
| X | g.47572958G>A | CA412820644 | SYN1 | c.2024C>T (p.Pro675Leu) c.1986C>T (p.Ala662=) c.74C>T (p.Pro25Leu) | dbSNP |
| X | g.47572958G>C | CA412820648 | SYN1 | c.2024C>G (p.Pro675Arg) c.1986C>G (p.Ala662=) c.74C>G (p.Pro25Arg) | gnomAD v4 |
| X | g.47572958G= | CA2427970806 | SYN1 | c.2024C= (p.Pro675=) c.1986C= (p.Ala662=) c.74C= (p.Pro25=) | |
| X | g.47572958G>T | CA412820646 | SYN1 | c.2024C>A (p.Pro675Gln) c.1986C>A (p.Ala662=) c.74C>A (p.Pro25Gln) | |
| X | g.47572959G>A | CA412820650 | SYN1 | c.2023C>T (p.Pro675Ser) c.1985C>T (p.Ala662Val) c.73C>T (p.Pro25Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.47572959G>C | CA412820653 | SYN1 | c.2023C>G (p.Pro675Ala) c.1985C>G (p.Ala662Gly) c.73C>G (p.Pro25Ala) | |
| X | g.47572959G= | CA2427970807 | SYN1 | c.2023C= (p.Pro675=) c.1985C= (p.Ala662=) c.73C= (p.Pro25=) | |
| X | g.47572959G>T | CA412820651 | SYN1 | c.2023C>A (p.Pro675Thr) c.1985C>A (p.Ala662Asp) c.73C>A (p.Pro25Thr) | |
| X | g.47572960C>A | CA412820655 | SYN1 | c.2022G>T (p.Glu674Asp) c.1984G>T (p.Ala662Ser) c.72G>T (p.Glu24Asp) | |
| X | g.47572960C>G | CA412820657 | SYN1 | c.2022G>C (p.Glu674Asp) c.1984G>C (p.Ala662Pro) c.72G>C (p.Glu24Asp) | |
| X | g.47572960C>T | CA412820659 | SYN1 | c.2022G>A (p.Glu674=) c.1984G>A (p.Ala662Thr) c.72G>A (p.Glu24=) | |
| X | g.47572961T>A | CA412820662 | SYN1 | c.2021A>T (p.Glu674Val) c.1983A>T (p.Lys661Asn) c.71A>T (p.Glu24Val) | |
| X | g.47572961T>C | CA412820664 | SYN1 | c.2021A>G (p.Glu674Gly) c.1983A>G (p.Lys661=) c.71A>G (p.Glu24Gly) | |
| X | g.47572961T>G | CA412820666 | SYN1 | c.2021A>C (p.Glu674Ala) c.1983A>C (p.Lys661Asn) c.71A>C (p.Glu24Ala) | |
| X | g.47572962C>A | CA412820668 | SYN1 | c.2020G>T (p.Glu674Ter) c.1983-1G>T (n.1983-1G>T) c.71-1G>T (n.71-1G>T) | |
| X | g.47572962C>G | CA412820669 | SYN1 | c.2020G>C (p.Glu674Gln) c.1983-1G>C (n.1983-1G>C) c.71-1G>C (n.71-1G>C) | COSMIC COSMIC |
| X | g.47572962C>T | CA412820670 | SYN1 | c.2020G>A (p.Glu674Lys) c.1983-1G>A (n.1983-1G>A) c.71-1G>A (n.71-1G>A) | gnomAD v4 |
| X | g.47572963T>A | CA412820673 | SYN1 | c.2019A>T (p.Pro673=) c.1983-2A>T (n.1983-2A>T) c.71-2A>T (n.71-2A>T) | |
| X | g.47572963T>C | CA412820675 | SYN1 | c.2019A>G (p.Pro673=) c.1983-2A>G (n.1983-2A>G) c.71-2A>G (n.71-2A>G) | |
| X | g.47572963T>G | CA412820679 | SYN1 | c.2019A>C (p.Pro673=) c.1983-2A>C (n.1983-2A>C) c.71-2A>C (n.71-2A>C) | |
| X | g.47572964G>A | CA412820687 | SYN1 | c.2018C>T (p.Pro673Leu) c.1983-3C>T (n.1983-3C>T) c.71-3C>T (n.71-3C>T) | |
| X | g.47572964G>C | CA412820683 | SYN1 | c.2018C>G (p.Pro673Arg) c.1983-3C>G (n.1983-3C>G) c.71-3C>G (n.71-3C>G) | |
| X | g.47572964G>T | CA412820685 | SYN1 | c.2018C>A (p.Pro673Gln) c.1983-3C>A (n.1983-3C>A) c.71-3C>A (n.71-3C>A) | |
| X | g.47572965G>A | CA412820690 | SYN1 | c.2017C>T (p.Pro673Ser) c.1983-4C>T (n.1983-4C>T) c.71-4C>T (n.71-4C>T) | |
| X | g.47572965G>C | CA412820692 | SYN1 | c.2017C>G (p.Pro673Ala) c.1983-4C>G (n.1983-4C>G) c.71-4C>G (n.71-4C>G) | |
| X | g.47572965G>T | CA412820694 | SYN1 | c.2017C>A (p.Pro673Thr) c.1983-4C>A (n.1983-4C>A) c.71-4C>A (n.71-4C>A) | |
| X | g.47572966A>C | CA515990955 | SYN1 | c.2016T>G (p.Leu672=) c.1983-5T>G (n.1983-5T>G) c.71-5T>G (n.71-5T>G) | |
| X | g.47572966A>G | CA515990956 | SYN1 | c.2016T>C (p.Leu672=) c.1983-5T>C (n.1983-5T>C) c.71-5T>C (n.71-5T>C) | |
| X | g.47572966A>T | CA515990957 | SYN1 | c.2016T>A (p.Leu672=) c.1983-5T>A (n.1983-5T>A) c.71-5T>A (n.71-5T>A) | |
| X | g.47572967A>C | CA412820696 | SYN1 | c.2015T>G (p.Leu672Arg) c.1983-6T>G (n.1983-6T>G) c.71-6T>G (n.71-6T>G) | |
| X | g.47572967A>G | CA412820699 | SYN1 | c.2015T>C (p.Leu672Pro) c.1983-6T>C (n.1983-6T>C) c.71-6T>C (n.71-6T>C) | |
| X | g.47572967A>T | CA412820700 | SYN1 | c.2015T>A (p.Leu672His) c.1983-6T>A (n.1983-6T>A) c.71-6T>A (n.71-6T>A) | |
| X | g.47572968G>A | CA412820702 | SYN1 | c.2014C>T (p.Leu672Phe) c.1983-7C>T (n.1983-7C>T) c.71-7C>T (n.71-7C>T) | |
| X | g.47572968G>C | CA412820704 | SYN1 | c.2014C>G (p.Leu672Val) c.1983-7C>G (n.1983-7C>G) c.71-7C>G (n.71-7C>G) | |
| X | g.47572968G>T | CA412820706 | SYN1 | c.2014C>A (p.Leu672Ile) c.1983-7C>A (n.1983-7C>A) c.71-7C>A (n.71-7C>A) | |
| X | g.47572969G>A | CA515990959 | SYN1 | c.2013C>T (p.Asn671=) c.1983-8C>T (n.1983-8C>T) c.71-8C>T (n.71-8C>T) | |
| X | g.47572969G>C | CA412820708 | SYN1 | c.2013C>G (p.Asn671Lys) c.1983-8C>G (n.1983-8C>G) c.71-8C>G (n.71-8C>G) | |
| X | g.47572969G>T | CA412820710 | SYN1 | c.2013C>A (p.Asn671Lys) c.1983-8C>A (n.1983-8C>A) c.71-8C>A (n.71-8C>A) | |
| X | g.47572970T>A | CA412820715 | SYN1 | c.2012A>T (p.Asn671Ile) c.1983-9A>T (n.1983-9A>T) c.71-9A>T (n.71-9A>T) | |
| X | g.47572970T>C | CA412820714 | SYN1 | c.2012A>G (p.Asn671Ser) c.1983-9A>G (n.1983-9A>G) c.71-9A>G (n.71-9A>G) | |
| X | g.47572970T>G | CA412820712 | SYN1 | c.2012A>C (p.Asn671Thr) c.1983-9A>C (n.1983-9A>C) c.71-9A>C (n.71-9A>C) |