Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47574065G>A | CA412822148 | SYN1 | c.1919C>T (p.Pro640Leu) c.70+623C>T (n.70+623C>T) | |
X | g.47574065G>C | CA412822145 | SYN1 | c.1919C>G (p.Pro640Arg) c.70+623C>G (n.70+623C>G) | |
X | g.47574065G>T | CA412822146 | SYN1 | c.1919C>A (p.Pro640His) c.70+623C>A (n.70+623C>A) | gnomAD v4 |
X | g.47574066G>A | CA412822151 | SYN1 | c.1918C>T (p.Pro640Ser) c.70+622C>T (n.70+622C>T) | gnomAD v4 |
X | g.47574066G>C | CA412822153 | SYN1 | c.1918C>G (p.Pro640Ala) c.70+622C>G (n.70+622C>G) | |
X | g.47574066G>T | CA412822154 | SYN1 | c.1918C>A (p.Pro640Thr) c.70+622C>A (n.70+622C>A) | gnomAD v4 |
X | g.47574067T>A | CA412822156 | SYN1 | c.1917A>T (p.Lys639Asn) c.70+621A>T (n.70+621A>T) | |
X | g.47574067T>C | CA516353278 | SYN1 | c.1917A>G (p.Lys639=) c.70+621A>G (n.70+621A>G) | |
X | g.47574067T>G | CA329057186 | SYN1 | c.1917A>C (p.Lys639Asn) c.70+621A>C (n.70+621A>C) | dbSNP |
X | g.47574067T= | CA2427971176 | SYN1 | c.1917A= (p.Lys639=) c.70+621A= (n.70+621A=) | |
X | g.47574068T>A | CA412822160 | SYN1 | c.1916A>T (p.Lys639Ile) c.70+620A>T (n.70+620A>T) | |
X | g.47574068T>C | CA412822163 | SYN1 | c.1916A>G (p.Lys639Arg) c.70+620A>G (n.70+620A>G) | gnomAD v4 |
X | g.47574068T>G | CA412822162 | SYN1 | c.1916A>C (p.Lys639Thr) c.70+620A>C (n.70+620A>C) | |
X | g.47574069T>A | CA412822166 | SYN1 | c.1915A>T (p.Lys639Ter) c.70+619A>T (n.70+619A>T) | |
X | g.47574069T>C | CA412822167 | SYN1 | c.1915A>G (p.Lys639Glu) c.70+619A>G (n.70+619A>G) | |
X | g.47574069T>G | CA412822169 | SYN1 | c.1915A>C (p.Lys639Gln) c.70+619A>C (n.70+619A>C) | COSMIC |
X | g.47574070C>A | CA412822172 | SYN1 | c.1914G>T (p.Gln638His) c.70+618G>T (n.70+618G>T) | gnomAD v4 |
X | g.47574070C>G | CA412822174 | SYN1 | c.1914G>C (p.Gln638His) c.70+618G>C (n.70+618G>C) | |
X | g.47574070C>T | CA516353280 | SYN1 | c.1914G>A (p.Gln638=) c.70+618G>A (n.70+618G>A) | gnomAD v4 |
X | g.47574071T>A | CA412822180 | SYN1 | c.1913A>T (p.Gln638Leu) c.70+617A>T (n.70+617A>T) | gnomAD v4 |
X | g.47574071T>C | CA412822178 | SYN1 | c.1913A>G (p.Gln638Arg) c.70+617A>G (n.70+617A>G) | gnomAD v4 |
X | g.47574071T>G | CA412822176 | SYN1 | c.1913A>C (p.Gln638Pro) c.70+617A>C (n.70+617A>C) | |
X | g.47574072G>A | CA412822182 | SYN1 | c.1912C>T (p.Gln638Ter) c.70+616C>T (n.70+616C>T) | gnomAD v4 |
X | g.47574072G>C | CA412822183 | SYN1 | c.1912C>G (p.Gln638Glu) c.70+616C>G (n.70+616C>G) | |
X | g.47574072G= | CA2427971177 | SYN1 | c.1912C= (p.Gln638=) c.70+616C= (n.70+616C=) | |
X | g.47574072G>T | CA412822185 | SYN1 | c.1912C>A (p.Gln638Lys) c.70+616C>A (n.70+616C>A) | dbSNP gnomAD v4 |
X | g.47574073G>A | CA516353281 | SYN1 | c.1911C>T (p.Ala637=) c.70+615C>T (n.70+615C>T) | |
X | g.47574073G>C | CA516353282 | SYN1 | c.1911C>G (p.Ala637=) c.70+615C>G (n.70+615C>G) | |
X | g.47574073G>T | CA516353283 | SYN1 | c.1911C>A (p.Ala637=) c.70+615C>A (n.70+615C>A) | gnomAD v4 |
X | g.47574074G>A | CA412822188 | SYN1 | c.1910C>T (p.Ala637Val) c.70+614C>T (n.70+614C>T) | gnomAD v4 |
X | g.47574074G>C | CA412822189 | SYN1 | c.1910C>G (p.Ala637Gly) c.70+614C>G (n.70+614C>G) | |
X | g.47574074G>T | CA412822192 | SYN1 | c.1910C>A (p.Ala637Asp) c.70+614C>A (n.70+614C>A) | gnomAD v4 |
X | g.47574075C>A | CA412822194 | SYN1 | c.1909G>T (p.Ala637Ser) c.70+613G>T (n.70+613G>T) | gnomAD v4 |
X | g.47574075C>G | CA412822198 | SYN1 | c.1909G>C (p.Ala637Pro) c.70+613G>C (n.70+613G>C) | |
X | g.47574075C>T | CA412822195 | SYN1 | c.1909G>A (p.Ala637Thr) c.70+613G>A (n.70+613G>A) | |
X | g.47574076C>A | CA516353286 | SYN1 | c.1908G>T (p.Leu636=) c.70+612G>T (n.70+612G>T) | gnomAD v4 |
X | g.47574076C>G | CA516353287 | SYN1 | c.1908G>C (p.Leu636=) c.70+612G>C (n.70+612G>C) | |
X | g.47574076C>T | CA516353288 | SYN1 | c.1908G>A (p.Leu636=) c.70+612G>A (n.70+612G>A) | gnomAD v4 |
X | g.47574077A>C | CA412822200 | SYN1 | c.1907T>G (p.Leu636Arg) c.70+611T>G (n.70+611T>G) | |
X | g.47574077A>G | CA412822201 | SYN1 | c.1907T>C (p.Leu636Pro) c.70+611T>C (n.70+611T>C) | gnomAD v4 |
X | g.47574077A>T | CA412822203 | SYN1 | c.1907T>A (p.Leu636Gln) c.70+611T>A (n.70+611T>A) | |
X | g.47574078G>A | CA516353291 | SYN1 | c.1906C>T (p.Leu636=) c.70+610C>T (n.70+610C>T) | gnomAD v4 |
X | g.47574078G>C | CA412822206 | SYN1 | c.1906C>G (p.Leu636Val) c.70+610C>G (n.70+610C>G) | |
X | g.47574078G>T | CA412822207 | SYN1 | c.1906C>A (p.Leu636Met) c.70+610C>A (n.70+610C>A) | gnomAD v4 |
X | g.47574082_47574194del | CA2580101019 | SYN1 | c.1794_1906del (p.Thr601GlufsTer?) c.70+498_70+610del (n.70+498_70+610del) | ClinVar |
X | g.47574079C>A | CA412822209 | SYN1 | c.1905G>T (p.Gln635His) c.70+609G>T (n.70+609G>T) | ClinVar gnomAD v4 |
X | g.47574079C= | CA2427971178 | SYN1 | c.1905G= (p.Gln635=) c.70+609G= (n.70+609G=) | |
X | g.47574079C>G | CA412822211 | SYN1 | c.1905G>C (p.Gln635His) c.70+609G>C (n.70+609G>C) | |
X | g.47574079C>T | CA516353293 | SYN1 | c.1905G>A (p.Gln635=) c.70+609G>A (n.70+609G>A) | dbSNP gnomAD v4 |
X | g.47574080T>A | CA412822220 | SYN1 | c.1904A>T (p.Gln635Leu) c.70+608A>T (n.70+608A>T) | |
X | g.47574080T>C | CA412822222 | SYN1 | c.1904A>G (p.Gln635Arg) c.70+608A>G (n.70+608A>G) | gnomAD v4 |
X | g.47574080T>G | CA412822223 | SYN1 | c.1904A>C (p.Gln635Pro) c.70+608A>C (n.70+608A>C) | |
X | g.47574081G>A | CA412822224 | SYN1 | c.1903C>T (p.Gln635Ter) c.70+607C>T (n.70+607C>T) | gnomAD v4 |
X | g.47574081G>C | CA412822226 | SYN1 | c.1903C>G (p.Gln635Glu) c.70+607C>G (n.70+607C>G) | |
X | g.47574081G>T | CA412822225 | SYN1 | c.1903C>A (p.Gln635Lys) c.70+607C>A (n.70+607C>A) | gnomAD v4 |
X | g.47574082T>A | CA516353296 | SYN1 | c.1902A>T (p.Pro634=) c.70+606A>T (n.70+606A>T) | |
X | g.47574082T>C | CA516353298 | SYN1 | c.1902A>G (p.Pro634=) c.70+606A>G (n.70+606A>G) | |
X | g.47574082T>G | CA516353299 | SYN1 | c.1902A>C (p.Pro634=) c.70+606A>C (n.70+606A>C) | |
X | g.47574083G>A | CA412822227 | SYN1 | c.1901C>T (p.Pro634Leu) c.70+605C>T (n.70+605C>T) | |
X | g.47574083G>C | CA412822229 | SYN1 | c.1901C>G (p.Pro634Arg) c.70+605C>G (n.70+605C>G) | |
X | g.47574083G>T | CA412822228 | SYN1 | c.1901C>A (p.Pro634Gln) c.70+605C>A (n.70+605C>A) | gnomAD v4 |
X | g.47574084G>A | CA412822230 | SYN1 | c.1900C>T (p.Pro634Ser) c.70+604C>T (n.70+604C>T) | dbSNP gnomAD v4 |
X | g.47574084G>C | CA412822232 | SYN1 | c.1900C>G (p.Pro634Ala) c.70+604C>G (n.70+604C>G) | gnomAD v4 |
X | g.47574084G>T | CA412822231 | SYN1 | c.1900C>A (p.Pro634Thr) c.70+604C>A (n.70+604C>A) | gnomAD v4 |
X | g.47574084_47574085insC | CA2565733911 | SYN1 | c.1899_1900insG (p.Pro634AlafsTer?) c.70+603_70+604insG (n.70+603_70+604insG) | |
X | g.47574085T>A | CA412822233 | SYN1 | c.1899A>T (p.Lys633Asn) c.70+603A>T (n.70+603A>T) | |
X | g.47574085T>C | CA516353300 | SYN1 | c.1899A>G (p.Lys633=) c.70+603A>G (n.70+603A>G) | |
X | g.47574085T>G | CA412822234 | SYN1 | c.1899A>C (p.Lys633Asn) c.70+603A>C (n.70+603A>C) | |
X | g.47574086T>A | CA412822235 | SYN1 | c.1898A>T (p.Lys633Ile) c.70+602A>T (n.70+602A>T) | |
X | g.47574086T>C | CA412822236 | SYN1 | c.1898A>G (p.Lys633Arg) c.70+602A>G (n.70+602A>G) | gnomAD v4 |
X | g.47574086T>G | CA412822237 | SYN1 | c.1898A>C (p.Lys633Thr) c.70+602A>C (n.70+602A>C) | |
X | g.47574086T= | CA2427971179 | SYN1 | c.1898A= (p.Lys633=) c.70+602A= (n.70+602A=) | |
X | g.47574086_47574087insGG | CA2537905157 | SYN1 | c.1897_1898insCC (p.Lys633ThrfsTer?) c.70+601_70+602insCC (n.70+601_70+602insCC) | |
X | g.47574087T>A | CA412822238 | SYN1 | c.1897A>T (p.Lys633Ter) c.70+601A>T (n.70+601A>T) | |
X | g.47574087T>C | CA412822239 | SYN1 | c.1897A>G (p.Lys633Glu) c.70+601A>G (n.70+601A>G) | |
X | g.47574087T>G | CA412822240 | SYN1 | c.1897A>C (p.Lys633Gln) c.70+601A>C (n.70+601A>C) | |
X | g.47574087_47574089dup | CA2427971180 | SYN1 | c.1895_1897dup (p.Pro632_Lys633insThr) c.70+599_70+601dup (n.70+599_70+601dup) | dbSNP |
X | g.47574088G>A | CA516353307 | SYN1 | c.1896C>T (p.Pro632=) c.70+600C>T (n.70+600C>T) | gnomAD v4 |
X | g.47574088G>C | CA516353308 | SYN1 | c.1896C>G (p.Pro632=) c.70+600C>G (n.70+600C>G) | |
X | g.47574088G>T | CA516353309 | SYN1 | c.1896C>A (p.Pro632=) c.70+600C>A (n.70+600C>A) | gnomAD v4 |
X | g.47574089G>A | CA412822241 | SYN1 | c.1895C>T (p.Pro632Leu) c.70+599C>T (n.70+599C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574089G>C | CA412822242 | SYN1 | c.1895C>G (p.Pro632Arg) c.70+599C>G (n.70+599C>G) | |
X | g.47574089G= | CA2427971181 | SYN1 | c.1895C= (p.Pro632=) c.70+599C= (n.70+599C=) | |
X | g.47574089G>T | CA412822243 | SYN1 | c.1895C>A (p.Pro632His) c.70+599C>A (n.70+599C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574090G>A | CA412822246 | SYN1 | c.1894C>T (p.Pro632Ser) c.70+598C>T (n.70+598C>T) | gnomAD v4 |
X | g.47574090G>C | CA412822245 | SYN1 | c.1894C>G (p.Pro632Ala) c.70+598C>G (n.70+598C>G) | |
X | g.47574090G>T | CA412822244 | SYN1 | c.1894C>A (p.Pro632Thr) c.70+598C>A (n.70+598C>A) | gnomAD v4 |
X | g.47574091A>C | CA516353313 | SYN1 | c.1893T>G (p.Arg631=) c.70+597T>G (n.70+597T>G) | |
X | g.47574091A>G | CA516353314 | SYN1 | c.1893T>C (p.Arg631=) c.70+597T>C (n.70+597T>C) | gnomAD v4 |
X | g.47574091A>T | CA516353315 | SYN1 | c.1893T>A (p.Arg631=) c.70+597T>A (n.70+597T>A) | |
X | g.47574092C>A | CA412822247 | SYN1 | c.1892G>T (p.Arg631Leu) c.70+596G>T (n.70+596G>T) | gnomAD v4 |
X | g.47574092C>G | CA412822248 | SYN1 | c.1892G>C (p.Arg631Pro) c.70+596G>C (n.70+596G>C) | gnomAD v4 |
X | g.47574092C>T | CA412822249 | SYN1 | c.1892G>A (p.Arg631His) c.70+596G>A (n.70+596G>A) | gnomAD v4 |
X | g.47574093G>A | CA412822250 | SYN1 | c.1891C>T (p.Arg631Cys) c.70+595C>T (n.70+595C>T) | gnomAD v4 |
X | g.47574093G>C | CA412822251 | SYN1 | c.1891C>G (p.Arg631Gly) c.70+595C>G (n.70+595C>G) | |
X | g.47574093G>T | CA412822252 | SYN1 | c.1891C>A (p.Arg631Ser) c.70+595C>A (n.70+595C>A) | gnomAD v4 |
X | g.47574094T>A | CA516353319 | SYN1 | c.1890A>T (p.Gly630=) c.70+594A>T (n.70+594A>T) | |
X | g.47574094T>C | CA516353320 | SYN1 | c.1890A>G (p.Gly630=) c.70+594A>G (n.70+594A>G) | gnomAD v4 |
X | g.47574094T>G | CA516353321 | SYN1 | c.1890A>C (p.Gly630=) c.70+594A>C (n.70+594A>C) | |
X | g.47574095C>A | CA412822253 | SYN1 | c.1889G>T (p.Gly630Val) c.70+593G>T (n.70+593G>T) | gnomAD v4 |
X | g.47574095C>G | CA412822254 | SYN1 | c.1889G>C (p.Gly630Ala) c.70+593G>C (n.70+593G>C) | |
X | g.47574095C>T | CA412822255 | SYN1 | c.1889G>A (p.Gly630Glu) c.70+593G>A (n.70+593G>A) | gnomAD v4 |
X | g.47574096C>A | CA412822256 | SYN1 | c.1888G>T (p.Gly630Ter) c.70+592G>T (n.70+592G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574096C= | CA2427971182 | SYN1 | c.1888G= (p.Gly630=) c.70+592G= (n.70+592G=) | |
X | g.47574096C>G | CA412822257 | SYN1 | c.1888G>C (p.Gly630Arg) c.70+592G>C (n.70+592G>C) | gnomAD v4 |
X | g.47574096C>T | CA412822258 | SYN1 | c.1888G>A (p.Gly630Arg) c.70+592G>A (n.70+592G>A) | gnomAD v4 |
X | g.47574097A= | CA2427971183 | SYN1 | c.1887T= (p.Ala629=) c.70+591T= (n.70+591T=) | |
X | g.47574097A>C | CA516353324 | SYN1 | c.1887T>G (p.Ala629=) c.70+591T>G (n.70+591T>G) | |
X | g.47574097A>G | CA516353325 | SYN1 | c.1887T>C (p.Ala629=) c.70+591T>C (n.70+591T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574097A>T | CA516353323 | SYN1 | c.1887T>A (p.Ala629=) c.70+591T>A (n.70+591T>A) | gnomAD v4 |
X | g.47574098G>A | CA412822261 | SYN1 | c.1886C>T (p.Ala629Val) c.70+590C>T (n.70+590C>T) | gnomAD v4 |
X | g.47574098G>C | CA412822260 | SYN1 | c.1886C>G (p.Ala629Gly) c.70+590C>G (n.70+590C>G) | |
X | g.47574098G>T | CA412822259 | SYN1 | c.1886C>A (p.Ala629Asp) c.70+590C>A (n.70+590C>A) | gnomAD v4 |
X | g.47574099C>A | CA412822262 | SYN1 | c.1885G>T (p.Ala629Ser) c.70+589G>T (n.70+589G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574099C= | CA2427971184 | SYN1 | c.1885G= (p.Ala629=) c.70+589G= (n.70+589G=) | |
X | g.47574099C>G | CA412822263 | SYN1 | c.1885G>C (p.Ala629Pro) c.70+589G>C (n.70+589G>C) | gnomAD v4 |
X | g.47574099C>T | CA412822264 | SYN1 | c.1885G>A (p.Ala629Thr) c.70+589G>A (n.70+589G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574100G>A | CA516353327 | SYN1 | c.1884C>T (p.Pro628=) c.70+588C>T (n.70+588C>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574100G>C | CA516353328 | SYN1 | c.1884C>G (p.Pro628=) c.70+588C>G (n.70+588C>G) | |
X | g.47574100G>T | CA516353329 | SYN1 | c.1884C>A (p.Pro628=) c.70+588C>A (n.70+588C>A) | gnomAD v4 |
X | g.47574103del | CA2523321858 | SYN1 | c.1884del (p.Ala629LeufsTer?) c.70+588del (n.70+588del) | gnomAD v4 |
X | g.47574102_47574103del | CA2579596676 | SYN1 | c.1883_1884del (p.Pro628ArgfsTer?) c.70+587_70+588del (n.70+587_70+588del) | gnomAD v4 |
X | g.47574101G>A | CA412822265 | SYN1 | c.1883C>T (p.Pro628Leu) c.70+587C>T (n.70+587C>T) | gnomAD v4 |
X | g.47574101G>C | CA412822266 | SYN1 | c.1883C>G (p.Pro628Arg) c.70+587C>G (n.70+587C>G) | |
X | g.47574101G>T | CA412822267 | SYN1 | c.1883C>A (p.Pro628His) c.70+587C>A (n.70+587C>A) | gnomAD v4 |
X | g.47574102G>A | CA412822268 | SYN1 | c.1882C>T (p.Pro628Ser) c.70+586C>T (n.70+586C>T) | gnomAD v4 |
X | g.47574102G>C | CA412822269 | SYN1 | c.1882C>G (p.Pro628Ala) c.70+586C>G (n.70+586C>G) | |
X | g.47574102G>T | CA412822270 | SYN1 | c.1882C>A (p.Pro628Thr) c.70+586C>A (n.70+586C>A) | gnomAD v4 |
X | g.47574103G>A | CA10398345 | SYN1 | c.1881C>T (p.Gly627=) c.70+585C>T (n.70+585C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47574103G>C | CA516353331 | SYN1 | c.1881C>G (p.Gly627=) c.70+585C>G (n.70+585C>G) | |
X | g.47574103G= | CA2427971185 | SYN1 | c.1881C= (p.Gly627=) c.70+585C= (n.70+585C=) | |
X | g.47574103G>T | CA516353330 | SYN1 | c.1881C>A (p.Gly627=) c.70+585C>A (n.70+585C>A) | gnomAD v4 |
X | g.47574104C>A | CA412822272 | SYN1 | c.1880G>T (p.Gly627Val) c.70+584G>T (n.70+584G>T) | gnomAD v4 |
X | g.47574104C>G | CA412822273 | SYN1 | c.1880G>C (p.Gly627Ala) c.70+584G>C (n.70+584G>C) | |
X | g.47574104C>T | CA412822274 | SYN1 | c.1880G>A (p.Gly627Asp) c.70+584G>A (n.70+584G>A) | gnomAD v4 |
X | g.47574106del | CA2693584636 | SYN1 | c.1880del (p.Gly627AlafsTer?) c.70+584del (n.70+584del) | gnomAD v4 |
X | g.47574105C>A | CA412822278 | SYN1 | c.1879G>T (p.Gly627Cys) c.70+583G>T (n.70+583G>T) | gnomAD v4 |
X | g.47574105C>G | CA412822276 | SYN1 | c.1879G>C (p.Gly627Arg) c.70+583G>C (n.70+583G>C) | |
X | g.47574105C>T | CA412822277 | SYN1 | c.1879G>A (p.Gly627Ser) c.70+583G>A (n.70+583G>A) | gnomAD v4 |
X | g.47574106C>A | CA516353332 | SYN1 | c.1878G>T (p.Pro626=) c.70+582G>T (n.70+582G>T) | gnomAD v4 |
X | g.47574106C= | CA2427971186 | SYN1 | c.1878G= (p.Pro626=) c.70+582G= (n.70+582G=) | |
X | g.47574106C>G | CA516353333 | SYN1 | c.1878G>C (p.Pro626=) c.70+582G>C (n.70+582G>C) | gnomAD v4 |
X | g.47574106C>T | CA516353334 | SYN1 | c.1878G>A (p.Pro626=) c.70+582G>A (n.70+582G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574107G>A | CA412822280 | SYN1 | c.1877C>T (p.Pro626Leu) c.70+581C>T (n.70+581C>T) | gnomAD v4 |
X | g.47574107G>C | CA412822281 | SYN1 | c.1877C>G (p.Pro626Arg) c.70+581C>G (n.70+581C>G) | |
X | g.47574107G>T | CA412822282 | SYN1 | c.1877C>A (p.Pro626Gln) c.70+581C>A (n.70+581C>A) | gnomAD v4 |
X | g.47574108G>A | CA412822284 | SYN1 | c.1876C>T (p.Pro626Ser) c.70+580C>T (n.70+580C>T) | |
X | g.47574108G>C | CA412822285 | SYN1 | c.1876C>G (p.Pro626Ala) c.70+580C>G (n.70+580C>G) | |
X | g.47574108G>T | CA412822287 | SYN1 | c.1876C>A (p.Pro626Thr) c.70+580C>A (n.70+580C>A) | gnomAD v4 |
X | g.47574109G>A | CA516353337 | SYN1 | c.1875C>T (p.Gly625=) c.70+579C>T (n.70+579C>T) | gnomAD v4 |
X | g.47574109G>C | CA516353338 | SYN1 | c.1875C>G (p.Gly625=) c.70+579C>G (n.70+579C>G) | |
X | g.47574109G>T | CA516353339 | SYN1 | c.1875C>A (p.Gly625=) c.70+579C>A (n.70+579C>A) | gnomAD v4 |
X | g.47574110C>A | CA412822289 | SYN1 | c.1874G>T (p.Gly625Val) c.70+578G>T (n.70+578G>T) | gnomAD v4 |
X | g.47574110C>G | CA412822291 | SYN1 | c.1874G>C (p.Gly625Ala) c.70+578G>C (n.70+578G>C) | |
X | g.47574110C>T | CA412822292 | SYN1 | c.1874G>A (p.Gly625Asp) c.70+578G>A (n.70+578G>A) | gnomAD v4 |
X | g.47574110_47574111dup | CA2579596677 | SYN1 | c.1873_1874dup (p.Pro626AlafsTer?) c.70+577_70+578dup (n.70+577_70+578dup) | gnomAD v4 |
X | g.47574111C>A | CA412822294 | SYN1 | c.1873G>T (p.Gly625Cys) c.70+577G>T (n.70+577G>T) | gnomAD v4 |
X | g.47574111C>G | CA412822296 | SYN1 | c.1873G>C (p.Gly625Arg) c.70+577G>C (n.70+577G>C) | |
X | g.47574111C>T | CA412822297 | SYN1 | c.1873G>A (p.Gly625Ser) c.70+577G>A (n.70+577G>A) | gnomAD v4 |
X | g.47574112G>A | CA516353343 | SYN1 | c.1872C>T (p.Ser624=) c.70+576C>T (n.70+576C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574112G>C | CA412822299 | SYN1 | c.1872C>G (p.Ser624Arg) c.70+576C>G (n.70+576C>G) | gnomAD v4 |
X | g.47574112G= | CA2427971187 | SYN1 | c.1872C= (p.Ser624=) c.70+576C= (n.70+576C=) | |
X | g.47574112G>T | CA412822300 | SYN1 | c.1872C>A (p.Ser624Arg) c.70+576C>A (n.70+576C>A) | gnomAD v4 |
X | g.47574113C>A | CA412822302 | SYN1 | c.1871G>T (p.Ser624Ile) c.70+575G>T (n.70+575G>T) | gnomAD v4 |
X | g.47574113C>G | CA412822306 | SYN1 | c.1871G>C (p.Ser624Thr) c.70+575G>C (n.70+575G>C) | |
X | g.47574113C>T | CA412822304 | SYN1 | c.1871G>A (p.Ser624Asn) c.70+575G>A (n.70+575G>A) | gnomAD v4 |
X | g.47574114T>A | CA412822307 | SYN1 | c.1870A>T (p.Ser624Cys) c.70+574A>T (n.70+574A>T) | |
X | g.47574114T>C | CA412822308 | SYN1 | c.1870A>G (p.Ser624Gly) c.70+574A>G (n.70+574A>G) | gnomAD v4 |
X | g.47574114T>G | CA412822309 | SYN1 | c.1870A>C (p.Ser624Arg) c.70+574A>C (n.70+574A>C) | |
X | g.47574115G>A | CA516353347 | SYN1 | c.1869C>T (p.Pro623=) c.70+573C>T (n.70+573C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574115G>C | CA516353348 | SYN1 | c.1869C>G (p.Pro623=) c.70+573C>G (n.70+573C>G) | |
X | g.47574115G= | CA2427971188 | SYN1 | c.1869C= (p.Pro623=) c.70+573C= (n.70+573C=) | |
X | g.47574115G>T | CA516353349 | SYN1 | c.1869C>A (p.Pro623=) c.70+573C>A (n.70+573C>A) | gnomAD v4 |
X | g.47574116G>A | CA412822310 | SYN1 | c.1868C>T (p.Pro623Leu) c.70+572C>T (n.70+572C>T) | gnomAD v4 |
X | g.47574116G>C | CA412822312 | SYN1 | c.1868C>G (p.Pro623Arg) c.70+572C>G (n.70+572C>G) | |
X | g.47574116G= | CA2427971189 | SYN1 | c.1868C= (p.Pro623=) c.70+572C= (n.70+572C=) | |
X | g.47574116G>T | CA412822314 | SYN1 | c.1868C>A (p.Pro623His) c.70+572C>A (n.70+572C>A) | dbSNP gnomAD v4 |
X | g.47574117G>A | CA329057197 | SYN1 | c.1867C>T (p.Pro623Ser) c.70+571C>T (n.70+571C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574117G>C | CA412822316 | SYN1 | c.1867C>G (p.Pro623Ala) c.70+571C>G (n.70+571C>G) | |
X | g.47574117G= | CA2427971190 | SYN1 | c.1867C= (p.Pro623=) c.70+571C= (n.70+571C=) | |
X | g.47574117G>T | CA412822317 | SYN1 | c.1867C>A (p.Pro623Thr) c.70+571C>A (n.70+571C>A) | gnomAD v4 |
X | g.47574118C>A | CA516353353 | SYN1 | c.1866G>T (p.Arg622=) c.70+570G>T (n.70+570G>T) | gnomAD v4 |
X | g.47574118C= | CA2427971191 | SYN1 | c.1866G= (p.Arg622=) c.70+570G= (n.70+570G=) | |
X | g.47574118C>G | CA516353352 | SYN1 | c.1866G>C (p.Arg622=) c.70+570G>C (n.70+570G>C) | gnomAD v4 |
X | g.47574118C>T | CA516353351 | SYN1 | c.1866G>A (p.Arg622=) c.70+570G>A (n.70+570G>A) | dbSNP gnomAD v4 |
X | g.47574119C>A | CA412822319 | SYN1 | c.1865G>T (p.Arg622Leu) c.70+569G>T (n.70+569G>T) | gnomAD v4 |
X | g.47574119C>G | CA412822320 | SYN1 | c.1865G>C (p.Arg622Pro) c.70+569G>C (n.70+569G>C) | |
X | g.47574119C>T | CA412822321 | SYN1 | c.1865G>A (p.Arg622Gln) c.70+569G>A (n.70+569G>A) | gnomAD v4 |
X | g.47574120G>A | CA412822323 | SYN1 | c.1864C>T (p.Arg622Trp) c.70+568C>T (n.70+568C>T) | ClinVar gnomAD v4 |
X | g.47574120G>C | CA412822324 | SYN1 | c.1864C>G (p.Arg622Gly) c.70+568C>G (n.70+568C>G) | |
X | g.47574120G>T | CA516353354 | SYN1 | c.1864C>A (p.Arg622=) c.70+568C>A (n.70+568C>A) | gnomAD v4 |
X | g.47574121A>C | CA516353358 | SYN1 | c.1863T>G (p.Pro621=) c.70+567T>G (n.70+567T>G) | |
X | g.47574121A>G | CA516353357 | SYN1 | c.1863T>C (p.Pro621=) c.70+567T>C (n.70+567T>C) | gnomAD v4 |
X | g.47574121A>T | CA516353355 | SYN1 | c.1863T>A (p.Pro621=) c.70+567T>A (n.70+567T>A) | |
X | g.47574122G>A | CA412822326 | SYN1 | c.1862C>T (p.Pro621Leu) c.70+566C>T (n.70+566C>T) | |
X | g.47574122G>C | CA412822328 | SYN1 | c.1862C>G (p.Pro621Arg) c.70+566C>G (n.70+566C>G) | |
X | g.47574122G>T | CA412822329 | SYN1 | c.1862C>A (p.Pro621His) c.70+566C>A (n.70+566C>A) | gnomAD v4 |
X | g.47574123G>A | CA412822331 | SYN1 | c.1861C>T (p.Pro621Ser) c.70+565C>T (n.70+565C>T) | gnomAD v4 |
X | g.47574123G>C | CA412822332 | SYN1 | c.1861C>G (p.Pro621Ala) c.70+565C>G (n.70+565C>G) | |
X | g.47574123G>T | CA412822333 | SYN1 | c.1861C>A (p.Pro621Thr) c.70+565C>A (n.70+565C>A) | gnomAD v4 |
X | g.47574124C>A | CA412822335 | SYN1 | c.1860G>T (p.Gln620His) c.70+564G>T (n.70+564G>T) | gnomAD v4 |
X | g.47574124C>G | CA412822336 | SYN1 | c.1860G>C (p.Gln620His) c.70+564G>C (n.70+564G>C) | |
X | g.47574124C>T | CA516353362 | SYN1 | c.1860G>A (p.Gln620=) c.70+564G>A (n.70+564G>A) | gnomAD v4 |
X | g.47574125T>A | CA412822338 | SYN1 | c.1859A>T (p.Gln620Leu) c.70+563A>T (n.70+563A>T) | |
X | g.47574125T>C | CA412822340 | SYN1 | c.1859A>G (p.Gln620Arg) c.70+563A>G (n.70+563A>G) | |
X | g.47574125T>G | CA412822342 | SYN1 | c.1859A>C (p.Gln620Pro) c.70+563A>C (n.70+563A>C) | |
X | g.47574126G>A | CA412822345 | SYN1 | c.1858C>T (p.Gln620Ter) c.70+562C>T (n.70+562C>T) | gnomAD v4 |
X | g.47574126G>C | CA412822347 | SYN1 | c.1858C>G (p.Gln620Glu) c.70+562C>G (n.70+562C>G) | |
X | g.47574126G>T | CA412822343 | SYN1 | c.1858C>A (p.Gln620Lys) c.70+562C>A (n.70+562C>A) | gnomAD v4 |
X | g.47574127C>A | CA412822348 | SYN1 | c.1857G>T (p.Gln619His) c.70+561G>T (n.70+561G>T) | gnomAD v4 |
X | g.47574127C>G | CA412822349 | SYN1 | c.1857G>C (p.Gln619His) c.70+561G>C (n.70+561G>C) | |
X | g.47574127C>T | CA516353364 | SYN1 | c.1857G>A (p.Gln619=) c.70+561G>A (n.70+561G>A) | gnomAD v4 |
X | g.47574128T>A | CA412822352 | SYN1 | c.1856A>T (p.Gln619Leu) c.70+560A>T (n.70+560A>T) | gnomAD v4 |
X | g.47574128T>C | CA412822354 | SYN1 | c.1856A>G (p.Gln619Arg) c.70+560A>G (n.70+560A>G) | gnomAD v4 |
X | g.47574128T>G | CA412822355 | SYN1 | c.1856A>C (p.Gln619Pro) c.70+560A>C (n.70+560A>C) | |
X | g.47574129G>A | CA412822360 | SYN1 | c.1855C>T (p.Gln619Ter) c.70+559C>T (n.70+559C>T) | gnomAD v4 |
X | g.47574129G>C | CA412822359 | SYN1 | c.1855C>G (p.Gln619Glu) c.70+559C>G (n.70+559C>G) | |
X | g.47574129G= | CA2427971192 | SYN1 | c.1855C= (p.Gln619=) c.70+559C= (n.70+559C=) | |
X | g.47574129G>T | CA412822357 | SYN1 | c.1855C>A (p.Gln619Lys) c.70+559C>A (n.70+559C>A) | ClinVar dbSNP gnomAD v4 |
X | g.47574130C>A | CA516353368 | SYN1 | c.1854G>T (p.Thr618=) c.70+558G>T (n.70+558G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574130C= | CA2427971193 | SYN1 | c.1854G= (p.Thr618=) c.70+558G= (n.70+558G=) | |
X | g.47574130C>G | CA516353369 | SYN1 | c.1854G>C (p.Thr618=) c.70+558G>C (n.70+558G>C) | |
X | g.47574130C>T | CA516353371 | SYN1 | c.1854G>A (p.Thr618=) c.70+558G>A (n.70+558G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574131G>A | CA412822362 | SYN1 | c.1853C>T (p.Thr618Met) c.70+557C>T (n.70+557C>T) | gnomAD v4 |
X | g.47574131G>C | CA412822363 | SYN1 | c.1853C>G (p.Thr618Arg) c.70+557C>G (n.70+557C>G) | |
X | g.47574131G>T | CA412822365 | SYN1 | c.1853C>A (p.Thr618Lys) c.70+557C>A (n.70+557C>A) | gnomAD v4 COSMIC COSMIC |
X | g.47574132T>A | CA412822367 | SYN1 | c.1852A>T (p.Thr618Ser) c.70+556A>T (n.70+556A>T) | |
X | g.47574132T>C | CA412822369 | SYN1 | c.1852A>G (p.Thr618Ala) c.70+556A>G (n.70+556A>G) | gnomAD v4 |
X | g.47574132T>G | CA412822370 | SYN1 | c.1852A>C (p.Thr618Pro) c.70+556A>C (n.70+556A>C) | |
X | g.47574133G>A | CA516353374 | SYN1 | c.1851C>T (p.Thr617=) c.70+555C>T (n.70+555C>T) | gnomAD v4 |
X | g.47574133G>C | CA516353376 | SYN1 | c.1851C>G (p.Thr617=) c.70+555C>G (n.70+555C>G) | |
X | g.47574133G>T | CA516353378 | SYN1 | c.1851C>A (p.Thr617=) c.70+555C>A (n.70+555C>A) | ClinVar dbSNP gnomAD v4 |
X | g.47574134G>A | CA412822371 | SYN1 | c.1850C>T (p.Thr617Ile) c.70+554C>T (n.70+554C>T) | gnomAD v4 |
X | g.47574134G>C | CA412822374 | SYN1 | c.1850C>G (p.Thr617Ser) c.70+554C>G (n.70+554C>G) | gnomAD v4 |
X | g.47574134G>T | CA412822372 | SYN1 | c.1850C>A (p.Thr617Asn) c.70+554C>A (n.70+554C>A) | |
X | g.47574135T>A | CA412822375 | SYN1 | c.1849A>T (p.Thr617Ser) c.70+553A>T (n.70+553A>T) | |
X | g.47574135T>C | CA412822376 | SYN1 | c.1849A>G (p.Thr617Ala) c.70+553A>G (n.70+553A>G) | gnomAD v4 |
X | g.47574135T>G | CA412822377 | SYN1 | c.1849A>C (p.Thr617Pro) c.70+553A>C (n.70+553A>C) | |
X | g.47574136G>A | CA516353379 | SYN1 | c.1848C>T (p.Pro616=) c.70+552C>T (n.70+552C>T) | gnomAD v4 |
X | g.47574136G>C | CA516353381 | SYN1 | c.1848C>G (p.Pro616=) c.70+552C>G (n.70+552C>G) | |
X | g.47574136G>T | CA516353382 | SYN1 | c.1848C>A (p.Pro616=) c.70+552C>A (n.70+552C>A) | gnomAD v4 |
X | g.47574137G>A | CA412822380 | SYN1 | c.1847C>T (p.Pro616Leu) c.70+551C>T (n.70+551C>T) | |
X | g.47574137G>C | CA412822381 | SYN1 | c.1847C>G (p.Pro616Arg) c.70+551C>G (n.70+551C>G) | |
X | g.47574137G>T | CA412822383 | SYN1 | c.1847C>A (p.Pro616His) c.70+551C>A (n.70+551C>A) | gnomAD v4 |
X | g.47574138G>A | CA412822384 | SYN1 | c.1846C>T (p.Pro616Ser) c.70+550C>T (n.70+550C>T) | gnomAD v4 |
X | g.47574138G>C | CA412822385 | SYN1 | c.1846C>G (p.Pro616Ala) c.70+550C>G (n.70+550C>G) | |
X | g.47574138G>T | CA412822386 | SYN1 | c.1846C>A (p.Pro616Thr) c.70+550C>A (n.70+550C>A) | gnomAD v4 |
X | g.47574139T>A | CA516353386 | SYN1 | c.1845A>T (p.Pro615=) c.70+549A>T (n.70+549A>T) | |
X | g.47574139T>C | CA516353385 | SYN1 | c.1845A>G (p.Pro615=) c.70+549A>G (n.70+549A>G) | gnomAD v4 |
X | g.47574139T>G | CA516353384 | SYN1 | c.1845A>C (p.Pro615=) c.70+549A>C (n.70+549A>C) | |
X | g.47574140G>A | CA412822388 | SYN1 | c.1844C>T (p.Pro615Leu) c.70+548C>T (n.70+548C>T) | |
X | g.47574140G>C | CA412822390 | SYN1 | c.1844C>G (p.Pro615Arg) c.70+548C>G (n.70+548C>G) | |
X | g.47574140G>T | CA412822391 | SYN1 | c.1844C>A (p.Pro615Gln) c.70+548C>A (n.70+548C>A) | gnomAD v4 |
X | g.47574141G>A | CA412822393 | SYN1 | c.1843C>T (p.Pro615Ser) c.70+547C>T (n.70+547C>T) | gnomAD v4 |
X | g.47574141G>C | CA412822396 | SYN1 | c.1843C>G (p.Pro615Ala) c.70+547C>G (n.70+547C>G) | gnomAD v4 |
X | g.47574141G>T | CA412822394 | SYN1 | c.1843C>A (p.Pro615Thr) c.70+547C>A (n.70+547C>A) | gnomAD v4 |
X | g.47574142C>A | CA516353388 | SYN1 | c.1842G>T (p.Gly614=) c.70+546G>T (n.70+546G>T) | gnomAD v4 |
X | g.47574142C>G | CA516353389 | SYN1 | c.1842G>C (p.Gly614=) c.70+546G>C (n.70+546G>C) | |
X | g.47574142C>T | CA516353390 | SYN1 | c.1842G>A (p.Gly614=) c.70+546G>A (n.70+546G>A) | gnomAD v4 |
X | g.47574144del | CA2551079782 | SYN1 | c.1842del (p.Pro615HisfsTer?) c.70+546del (n.70+546del) | gnomAD v4 |
X | g.47574143C>A | CA412822398 | SYN1 | c.1841G>T (p.Gly614Val) c.70+545G>T (n.70+545G>T) | gnomAD v4 |
X | g.47574143C>G | CA412822399 | SYN1 | c.1841G>C (p.Gly614Ala) c.70+545G>C (n.70+545G>C) | gnomAD v4 |
X | g.47574143C>T | CA412822400 | SYN1 | c.1841G>A (p.Gly614Glu) c.70+545G>A (n.70+545G>A) | |
X | g.47574144C>A | CA412822402 | SYN1 | c.1840G>T (p.Gly614Trp) c.70+544G>T (n.70+544G>T) | gnomAD v4 |
X | g.47574144C>G | CA412822404 | SYN1 | c.1840G>C (p.Gly614Arg) c.70+544G>C (n.70+544G>C) | |
X | g.47574144C>T | CA412822405 | SYN1 | c.1840G>A (p.Gly614Arg) c.70+544G>A (n.70+544G>A) | gnomAD v4 |
X | g.47574145A>C | CA516353391 | SYN1 | c.1839T>G (p.Thr613=) c.70+543T>G (n.70+543T>G) | |
X | g.47574145A>G | CA516353392 | SYN1 | c.1839T>C (p.Thr613=) c.70+543T>C (n.70+543T>C) | gnomAD v4 |
X | g.47574145A>T | CA516353393 | SYN1 | c.1839T>A (p.Thr613=) c.70+543T>A (n.70+543T>A) | |
X | g.47574146G>A | CA412822410 | SYN1 | c.1838C>T (p.Thr613Ile) c.70+542C>T (n.70+542C>T) | gnomAD v4 |
X | g.47574146G>C | CA412822409 | SYN1 | c.1838C>G (p.Thr613Ser) c.70+542C>G (n.70+542C>G) | |
X | g.47574146G>T | CA412822407 | SYN1 | c.1838C>A (p.Thr613Asn) c.70+542C>A (n.70+542C>A) | gnomAD v4 |
X | g.47574147T>A | CA412822412 | SYN1 | c.1837A>T (p.Thr613Ser) c.70+541A>T (n.70+541A>T) | gnomAD v4 |
X | g.47574147T>C | CA412822413 | SYN1 | c.1837A>G (p.Thr613Ala) c.70+541A>G (n.70+541A>G) | |
X | g.47574147T>G | CA412822415 | SYN1 | c.1837A>C (p.Thr613Pro) c.70+541A>C (n.70+541A>C) | ClinVar dbSNP gnomAD v4 |
X | g.47574147T= | CA2427971194 | SYN1 | c.1837A= (p.Thr613=) c.70+541A= (n.70+541A=) | |
X | g.47574148G>A | CA516353395 | SYN1 | c.1836C>T (p.Arg612=) c.70+540C>T (n.70+540C>T) | |
X | g.47574148G>C | CA516353396 | SYN1 | c.1836C>G (p.Arg612=) c.70+540C>G (n.70+540C>G) | |
X | g.47574148G>T | CA516353397 | SYN1 | c.1836C>A (p.Arg612=) c.70+540C>A (n.70+540C>A) | gnomAD v4 |
X | g.47574149del | CA2693584756 | SYN1 | c.1835del (p.Arg612ProfsTer?) c.70+539del (n.70+539del) | gnomAD v4 |
X | g.47574149C>A | CA412822417 | SYN1 | c.1835G>T (p.Arg612Leu) c.70+539G>T (n.70+539G>T) | gnomAD v4 |
X | g.47574149C= | CA2427971195 | SYN1 | c.1835G= (p.Arg612=) c.70+539G= (n.70+539G=) | |
X | g.47574149C>G | CA412822418 | SYN1 | c.1835G>C (p.Arg612Pro) c.70+539G>C (n.70+539G>C) | |
X | g.47574149C>T | CA412822419 | SYN1 | c.1835G>A (p.Arg612His) c.70+539G>A (n.70+539G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574150G>A | CA412822420 | SYN1 | c.1834C>T (p.Arg612Cys) c.70+538C>T (n.70+538C>T) | gnomAD v4 |
X | g.47574150G>C | CA412822424 | SYN1 | c.1834C>G (p.Arg612Gly) c.70+538C>G (n.70+538C>G) | |
X | g.47574150G>T | CA412822422 | SYN1 | c.1834C>A (p.Arg612Ser) c.70+538C>A (n.70+538C>A) | gnomAD v4 |
X | g.47574153del | CA2693584768 | SYN1 | c.1834del (p.Arg612AlafsTer?) c.70+538del (n.70+538del) | gnomAD v4 |
X | g.47574151G>A | CA516353398 | SYN1 | c.1833C>T (p.Pro611=) c.70+537C>T (n.70+537C>T) | gnomAD v4 |
X | g.47574151G>C | CA516353401 | SYN1 | c.1833C>G (p.Pro611=) c.70+537C>G (n.70+537C>G) | |
X | g.47574151G>T | CA516353399 | SYN1 | c.1833C>A (p.Pro611=) c.70+537C>A (n.70+537C>A) | gnomAD v4 |
X | g.47574152G>A | CA412822426 | SYN1 | c.1832C>T (p.Pro611Leu) c.70+536C>T (n.70+536C>T) | gnomAD v4 |
X | g.47574152G>C | CA412822427 | SYN1 | c.1832C>G (p.Pro611Arg) c.70+536C>G (n.70+536C>G) | |
X | g.47574152G>T | CA412822428 | SYN1 | c.1832C>A (p.Pro611His) c.70+536C>A (n.70+536C>A) | |
X | g.47574153G>A | CA412822430 | SYN1 | c.1831C>T (p.Pro611Ser) c.70+535C>T (n.70+535C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574153G>C | CA412822432 | SYN1 | c.1831C>G (p.Pro611Ala) c.70+535C>G (n.70+535C>G) | |
X | g.47574153G= | CA2427971196 | SYN1 | c.1831C= (p.Pro611=) c.70+535C= (n.70+535C=) | |
X | g.47574153G>T | CA412822433 | SYN1 | c.1831C>A (p.Pro611Thr) c.70+535C>A (n.70+535C>A) | gnomAD v4 |
X | g.47574154C>A | CA516353404 | SYN1 | c.1830G>T (p.Val610=) c.70+534G>T (n.70+534G>T) | gnomAD v4 |
X | g.47574154C>G | CA516353405 | SYN1 | c.1830G>C (p.Val610=) c.70+534G>C (n.70+534G>C) | |
X | g.47574154C>T | CA516353406 | SYN1 | c.1830G>A (p.Val610=) c.70+534G>A (n.70+534G>A) | gnomAD v4 |
X | g.47574155A>C | CA412822434 | SYN1 | c.1829T>G (p.Val610Gly) c.70+533T>G (n.70+533T>G) | |
X | g.47574155A>G | CA412822435 | SYN1 | c.1829T>C (p.Val610Ala) c.70+533T>C (n.70+533T>C) | |
X | g.47574155A>T | CA412822436 | SYN1 | c.1829T>A (p.Val610Glu) c.70+533T>A (n.70+533T>A) | |
X | g.47574156C>A | CA412822437 | SYN1 | c.1828G>T (p.Val610Leu) c.70+532G>T (n.70+532G>T) | gnomAD v4 |
X | g.47574156C>G | CA412822439 | SYN1 | c.1828G>C (p.Val610Leu) c.70+532G>C (n.70+532G>C) | |
X | g.47574156C>T | CA412822441 | SYN1 | c.1828G>A (p.Val610Met) c.70+532G>A (n.70+532G>A) | gnomAD v4 |
X | g.47574157G>A | CA516353408 | SYN1 | c.1827C>T (p.Pro609=) c.70+531C>T (n.70+531C>T) | gnomAD v4 |
X | g.47574157G>C | CA516353409 | SYN1 | c.1827C>G (p.Pro609=) c.70+531C>G (n.70+531C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574157G= | CA2427971197 | SYN1 | c.1827C= (p.Pro609=) c.70+531C= (n.70+531C=) | |
X | g.47574157G>T | CA516353410 | SYN1 | c.1827C>A (p.Pro609=) c.70+531C>A (n.70+531C>A) | gnomAD v4 |
X | g.47574158G>A | CA412822445 | SYN1 | c.1826C>T (p.Pro609Leu) c.70+530C>T (n.70+530C>T) | |
X | g.47574158G>C | CA412822443 | SYN1 | c.1826C>G (p.Pro609Arg) c.70+530C>G (n.70+530C>G) | |
X | g.47574158G>T | CA412822444 | SYN1 | c.1826C>A (p.Pro609His) c.70+530C>A (n.70+530C>A) | |
X | g.47574159G>A | CA412822447 | SYN1 | c.1825C>T (p.Pro609Ser) c.70+529C>T (n.70+529C>T) | gnomAD v4 |
X | g.47574159G>C | CA412822449 | SYN1 | c.1825C>G (p.Pro609Ala) c.70+529C>G (n.70+529C>G) | |
X | g.47574159G>T | CA412822450 | SYN1 | c.1825C>A (p.Pro609Thr) c.70+529C>A (n.70+529C>A) | gnomAD v4 |
X | g.47574160A>C | CA516353412 | SYN1 | c.1824T>G (p.Gly608=) c.70+528T>G (n.70+528T>G) | |
X | g.47574160A>G | CA516353413 | SYN1 | c.1824T>C (p.Gly608=) c.70+528T>C (n.70+528T>C) | gnomAD v4 |
X | g.47574160A>T | CA516353414 | SYN1 | c.1824T>A (p.Gly608=) c.70+528T>A (n.70+528T>A) | |
X | g.47574161C>A | CA412822452 | SYN1 | c.1823G>T (p.Gly608Val) c.70+527G>T (n.70+527G>T) | |
X | g.47574161C>G | CA412822453 | SYN1 | c.1823G>C (p.Gly608Ala) c.70+527G>C (n.70+527G>C) | gnomAD v4 |
X | g.47574161C>T | CA412822455 | SYN1 | c.1823G>A (p.Gly608Asp) c.70+527G>A (n.70+527G>A) | gnomAD v4 |
X | g.47574162C>A | CA329057198 | SYN1 | c.1822G>T (p.Gly608Cys) c.70+526G>T (n.70+526G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574162C= | CA2427971198 | SYN1 | c.1822G= (p.Gly608=) c.70+526G= (n.70+526G=) | |
X | g.47574162C>G | CA412822458 | SYN1 | c.1822G>C (p.Gly608Arg) c.70+526G>C (n.70+526G>C) | |
X | g.47574162C>T | CA412822459 | SYN1 | c.1822G>A (p.Gly608Ser) c.70+526G>A (n.70+526G>A) | gnomAD v4 |
X | g.47574163C>A | CA516353415 | SYN1 | c.1821G>T (p.Ala607=) c.70+525G>T (n.70+525G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574163C= | CA2427971199 | SYN1 | c.1821G= (p.Ala607=) c.70+525G= (n.70+525G=) | |
X | g.47574163C>G | CA516353416 | SYN1 | c.1821G>C (p.Ala607=) c.70+525G>C (n.70+525G>C) | |
X | g.47574163C>T | CA516353417 | SYN1 | c.1821G>A (p.Ala607=) c.70+525G>A (n.70+525G>A) | ClinVar gnomAD v4 |
X | g.47574164G>A | CA412822461 | SYN1 | c.1820C>T (p.Ala607Val) c.70+524C>T (n.70+524C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.47574164G>C | CA412822463 | SYN1 | c.1820C>G (p.Ala607Gly) c.70+524C>G (n.70+524C>G) | ClinVar gnomAD v4 |
X | g.47574164G= | CA2427971200 | SYN1 | c.1820C= (p.Ala607=) c.70+524C= (n.70+524C=) | |
X | g.47574164G>T | CA412822464 | SYN1 | c.1820C>A (p.Ala607Glu) c.70+524C>A (n.70+524C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574165C>A | CA412822470 | SYN1 | c.1819G>T (p.Ala607Ser) c.70+523G>T (n.70+523G>T) | |
X | g.47574165C= | CA2427971201 | SYN1 | c.1819G= (p.Ala607=) c.70+523G= (n.70+523G=) | |
X | g.47574165C>G | CA412822468 | SYN1 | c.1819G>C (p.Ala607Pro) c.70+523G>C (n.70+523G>C) | |
X | g.47574165C>T | CA412822466 | SYN1 | c.1819G>A (p.Ala607Thr) c.70+523G>A (n.70+523G>A) | dbSNP gnomAD v2 gnomAD v4 |