Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47574351_47574423del | CA2820775724 | SYN1 | c.1564_1636del (p.Ala522ProfsTer?) c.70+268_70+340del (n.70+268_70+340del) | |
X | g.47574361_47574444del | CA2693585170 | SYN1 | c.1545_1628del (p.Gln516_Pro543del) c.70+249_70+332del (n.70+249_70+332del) | gnomAD v4 |
X | g.47574363del | CA2693585181 | SYN1 | c.1624del (p.Ala542ArgfsTer?) c.70+328del (n.70+328del) | gnomAD v4 |
X | g.47574363C>A | CA412823090 | SYN1 | c.1621G>T (p.Gly541Trp) c.70+325G>T (n.70+325G>T) | gnomAD v4 |
X | g.47574363C= | CA2427971277 | SYN1 | c.1621G= (p.Gly541=) c.70+325G= (n.70+325G=) | |
X | g.47574363C>G | CA231535 | SYN1 | c.1621G>C (p.Gly541Arg) c.70+325G>C (n.70+325G>C) | ClinVar dbSNP gnomAD v4 |
X | g.47574363C>T | CA412823092 | SYN1 | c.1621G>A (p.Gly541Arg) c.70+325G>A (n.70+325G>A) | gnomAD v4 |
X | g.47574364G>A | CA516353966 | SYN1 | c.1620C>T (p.Pro540=) c.70+324C>T (n.70+324C>T) | gnomAD v4 |
X | g.47574364G>C | CA516353967 | SYN1 | c.1620C>G (p.Pro540=) c.70+324C>G (n.70+324C>G) | gnomAD v4 |
X | g.47574364G>T | CA516353968 | SYN1 | c.1620C>A (p.Pro540=) c.70+324C>A (n.70+324C>A) | gnomAD v4 |
X | g.47574367del | CA2693585195 | SYN1 | c.1620del (p.Ala542ArgfsTer?) c.70+324del (n.70+324del) | dbSNP gnomAD v4 |
X | g.47574365G>A | CA412823094 | SYN1 | c.1619C>T (p.Pro540Leu) c.70+323C>T (n.70+323C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574365G>C | CA412823096 | SYN1 | c.1619C>G (p.Pro540Arg) c.70+323C>G (n.70+323C>G) | |
X | g.47574365G= | CA2427971278 | SYN1 | c.1619C= (p.Pro540=) c.70+323C= (n.70+323C=) | |
X | g.47574365G>T | CA412823098 | SYN1 | c.1619C>A (p.Pro540His) c.70+323C>A (n.70+323C>A) | gnomAD v4 |
X | g.47574366G>A | CA412823100 | SYN1 | c.1618C>T (p.Pro540Ser) c.70+322C>T (n.70+322C>T) | gnomAD v4 |
X | g.47574366G>C | CA412823103 | SYN1 | c.1618C>G (p.Pro540Ala) c.70+322C>G (n.70+322C>G) | |
X | g.47574366G= | CA2427971279 | SYN1 | c.1618C= (p.Pro540=) c.70+322C= (n.70+322C=) | |
X | g.47574366G>T | CA412823102 | SYN1 | c.1618C>A (p.Pro540Thr) c.70+322C>A (n.70+322C>A) | dbSNP gnomAD v4 |
X | g.47574367G>A | CA516353971 | SYN1 | c.1617C>T (p.Gly539=) c.70+321C>T (n.70+321C>T) | gnomAD v4 |
X | g.47574367G>C | CA516353969 | SYN1 | c.1617C>G (p.Gly539=) c.70+321C>G (n.70+321C>G) | gnomAD v4 |
X | g.47574367G= | CA2427971280 | SYN1 | c.1617C= (p.Gly539=) c.70+321C= (n.70+321C=) | |
X | g.47574367G>T | CA516353970 | SYN1 | c.1617C>A (p.Gly539=) c.70+321C>A (n.70+321C>A) | |
X | g.47574367_47574368dup | CA2579596680 | SYN1 | c.1616_1617dup (p.Pro540AlafsTer?) c.70+320_70+321dup (n.70+320_70+321dup) | |
X | g.47574368C>A | CA412823105 | SYN1 | c.1616G>T (p.Gly539Val) c.70+320G>T (n.70+320G>T) | dbSNP gnomAD v4 |
X | g.47574368C= | CA2427971281 | SYN1 | c.1616G= (p.Gly539=) c.70+320G= (n.70+320G=) | |
X | g.47574368C>G | CA412823106 | SYN1 | c.1616G>C (p.Gly539Ala) c.70+320G>C (n.70+320G>C) | gnomAD v4 |
X | g.47574368C>T | CA412823108 | SYN1 | c.1616G>A (p.Gly539Asp) c.70+320G>A (n.70+320G>A) | |
X | g.47574369dup | CA645603182 | SYN1 | c.1616dup (p.Gly541ArgfsTer?) c.70+320dup (n.70+320dup) | dbSNP COSMIC COSMIC |
X | g.47574369C>A | CA412823110 | SYN1 | c.1615G>T (p.Gly539Cys) c.70+319G>T (n.70+319G>T) | gnomAD v4 |
X | g.47574369C= | CA2427971282 | SYN1 | c.1615G= (p.Gly539=) c.70+319G= (n.70+319G=) | |
X | g.47574369C>G | CA412823112 | SYN1 | c.1615G>C (p.Gly539Arg) c.70+319G>C (n.70+319G>C) | |
X | g.47574369C>T | CA239960 | SYN1 | c.1615G>A (p.Gly539Ser) c.70+319G>A (n.70+319G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574370T>A | CA516353972 | SYN1 | c.1614A>T (p.Gly538=) c.70+318A>T (n.70+318A>T) | ClinVar gnomAD v4 |
X | g.47574370T>C | CA239957 | SYN1 | c.1614A>G (p.Gly538=) c.70+318A>G (n.70+318A>G) | ClinVar dbSNP gnomAD v4 |
X | g.47574370T>G | CA516353973 | SYN1 | c.1614A>C (p.Gly538=) c.70+318A>C (n.70+318A>C) | |
X | g.47574370T= | CA2427971283 | SYN1 | c.1614A= (p.Gly538=) c.70+318A= (n.70+318A=) | |
X | g.47574371C>A | CA412823113 | SYN1 | c.1613G>T (p.Gly538Val) c.70+317G>T (n.70+317G>T) | gnomAD v4 |
X | g.47574371C>G | CA412823114 | SYN1 | c.1613G>C (p.Gly538Ala) c.70+317G>C (n.70+317G>C) | |
X | g.47574371C>T | CA412823115 | SYN1 | c.1613G>A (p.Gly538Glu) c.70+317G>A (n.70+317G>A) | gnomAD v4 |
X | g.47574372C>A | CA412823116 | SYN1 | c.1612G>T (p.Gly538Ter) c.70+316G>T (n.70+316G>T) | |
X | g.47574372C>G | CA412823117 | SYN1 | c.1612G>C (p.Gly538Arg) c.70+316G>C (n.70+316G>C) | |
X | g.47574372C>T | CA412823118 | SYN1 | c.1612G>A (p.Gly538Arg) c.70+316G>A (n.70+316G>A) | gnomAD v4 |
X | g.47574373C>A | CA516353974 | SYN1 | c.1611G>T (p.Ala537=) c.70+315G>T (n.70+315G>T) | gnomAD v4 |
X | g.47574373C>G | CA516353975 | SYN1 | c.1611G>C (p.Ala537=) c.70+315G>C (n.70+315G>C) | |
X | g.47574373C>T | CA516353976 | SYN1 | c.1611G>A (p.Ala537=) c.70+315G>A (n.70+315G>A) | ClinVar dbSNP gnomAD v4 |
X | g.47574374G>A | CA412823119 | SYN1 | c.1610C>T (p.Ala537Val) c.70+314C>T (n.70+314C>T) | gnomAD v4 |
X | g.47574374G>C | CA412823121 | SYN1 | c.1610C>G (p.Ala537Gly) c.70+314C>G (n.70+314C>G) | |
X | g.47574374G>T | CA412823120 | SYN1 | c.1610C>A (p.Ala537Glu) c.70+314C>A (n.70+314C>A) | |
X | g.47574375C>A | CA412823122 | SYN1 | c.1609G>T (p.Ala537Ser) c.70+313G>T (n.70+313G>T) | gnomAD v4 |
X | g.47574375C= | CA2427971284 | SYN1 | c.1609G= (p.Ala537=) c.70+313G= (n.70+313G=) | |
X | g.47574375C>G | CA412823123 | SYN1 | c.1609G>C (p.Ala537Pro) c.70+313G>C (n.70+313G>C) | |
X | g.47574375C>T | CA412823124 | SYN1 | c.1609G>A (p.Ala537Thr) c.70+313G>A (n.70+313G>A) | ClinVar dbSNP |
X | g.47574376C>A | CA516353977 | SYN1 | c.1608G>T (p.Val536=) c.70+312G>T (n.70+312G>T) | gnomAD v4 |
X | g.47574376C>G | CA516353978 | SYN1 | c.1608G>C (p.Val536=) c.70+312G>C (n.70+312G>C) | |
X | g.47574376C>T | CA516353979 | SYN1 | c.1608G>A (p.Val536=) c.70+312G>A (n.70+312G>A) | |
X | g.47574377A>C | CA412823125 | SYN1 | c.1607T>G (p.Val536Gly) c.70+311T>G (n.70+311T>G) | |
X | g.47574377A>G | CA412823126 | SYN1 | c.1607T>C (p.Val536Ala) c.70+311T>C (n.70+311T>C) | |
X | g.47574377A>T | CA412823127 | SYN1 | c.1607T>A (p.Val536Glu) c.70+311T>A (n.70+311T>A) | |
X | g.47574378C>A | CA412823128 | SYN1 | c.1606G>T (p.Val536Leu) c.70+310G>T (n.70+310G>T) | |
X | g.47574378C>G | CA412823129 | SYN1 | c.1606G>C (p.Val536Leu) c.70+310G>C (n.70+310G>C) | |
X | g.47574378C>T | CA412823130 | SYN1 | c.1606G>A (p.Val536Met) c.70+310G>A (n.70+310G>A) | |
X | g.47574379T>A | CA516353980 | SYN1 | c.1605A>T (p.Pro535=) c.70+309A>T (n.70+309A>T) | |
X | g.47574379T>C | CA329057320 | SYN1 | c.1605A>G (p.Pro535=) c.70+309A>G (n.70+309A>G) | dbSNP |
X | g.47574379T>G | CA516353981 | SYN1 | c.1605A>C (p.Pro535=) c.70+309A>C (n.70+309A>C) | |
X | g.47574379T= | CA2427971285 | SYN1 | c.1605A= (p.Pro535=) c.70+309A= (n.70+309A=) | |
X | g.47574380G>A | CA412823131 | SYN1 | c.1604C>T (p.Pro535Leu) c.70+308C>T (n.70+308C>T) | gnomAD v4 |
X | g.47574380G>C | CA412823133 | SYN1 | c.1604C>G (p.Pro535Arg) c.70+308C>G (n.70+308C>G) | |
X | g.47574380G>T | CA412823132 | SYN1 | c.1604C>A (p.Pro535Gln) c.70+308C>A (n.70+308C>A) | gnomAD v4 |
X | g.47574381G>A | CA412823134 | SYN1 | c.1603C>T (p.Pro535Ser) c.70+307C>T (n.70+307C>T) | gnomAD v4 |
X | g.47574381G>C | CA412823136 | SYN1 | c.1603C>G (p.Pro535Ala) c.70+307C>G (n.70+307C>G) | |
X | g.47574381G>T | CA412823135 | SYN1 | c.1603C>A (p.Pro535Thr) c.70+307C>A (n.70+307C>A) | |
X | g.47574382C>A | CA516353982 | SYN1 | c.1602G>T (p.Arg534=) c.70+306G>T (n.70+306G>T) | dbSNP gnomAD v4 |
X | g.47574382C>G | CA516353983 | SYN1 | c.1602G>C (p.Arg534=) c.70+306G>C (n.70+306G>C) | |
X | g.47574382C>T | CA516353984 | SYN1 | c.1602G>A (p.Arg534=) c.70+306G>A (n.70+306G>A) | |
X | g.47574383C>A | CA412823137 | SYN1 | c.1601G>T (p.Arg534Leu) c.70+305G>T (n.70+305G>T) | |
X | g.47574383C>G | CA412823139 | SYN1 | c.1601G>C (p.Arg534Pro) c.70+305G>C (n.70+305G>C) | |
X | g.47574383C>T | CA412823138 | SYN1 | c.1601G>A (p.Arg534Gln) c.70+305G>A (n.70+305G>A) | gnomAD v4 |
X | g.47574384G>A | CA412823141 | SYN1 | c.1600C>T (p.Arg534Trp) c.70+304C>T (n.70+304C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574384G>C | CA412823142 | SYN1 | c.1600C>G (p.Arg534Gly) c.70+304C>G (n.70+304C>G) | gnomAD v4 |
X | g.47574384G= | CA2427971286 | SYN1 | c.1600C= (p.Arg534=) c.70+304C= (n.70+304C=) | |
X | g.47574384G>T | CA516353985 | SYN1 | c.1600C>A (p.Arg534=) c.70+304C>A (n.70+304C>A) | gnomAD v4 |
X | g.47574385G>A | CA516353986 | SYN1 | c.1599C>T (p.Ser533=) c.70+303C>T (n.70+303C>T) | gnomAD v4 |
X | g.47574385G>C | CA516353987 | SYN1 | c.1599C>G (p.Ser533=) c.70+303C>G (n.70+303C>G) | |
X | g.47574385G>T | CA516353988 | SYN1 | c.1599C>A (p.Ser533=) c.70+303C>A (n.70+303C>A) | gnomAD v4 |
X | g.47574386G>A | CA412823145 | SYN1 | c.1598C>T (p.Ser533Phe) c.70+302C>T (n.70+302C>T) | |
X | g.47574386G>C | CA412823147 | SYN1 | c.1598C>G (p.Ser533Cys) c.70+302C>G (n.70+302C>G) | |
X | g.47574386G= | CA2427971287 | SYN1 | c.1598C= (p.Ser533=) c.70+302C= (n.70+302C=) | |
X | g.47574386G>T | CA412823148 | SYN1 | c.1598C>A (p.Ser533Tyr) c.70+302C>A (n.70+302C>A) | dbSNP |
X | g.47574387A>C | CA412823150 | SYN1 | c.1597T>G (p.Ser533Ala) c.70+301T>G (n.70+301T>G) | |
X | g.47574387A>G | CA412823152 | SYN1 | c.1597T>C (p.Ser533Pro) c.70+301T>C (n.70+301T>C) | |
X | g.47574387A>T | CA412823153 | SYN1 | c.1597T>A (p.Ser533Thr) c.70+301T>A (n.70+301T>A) | gnomAD v4 |
X | g.47574388T>A | CA412823154 | SYN1 | c.1596A>T (p.Gln532His) c.70+300A>T (n.70+300A>T) | |
X | g.47574388T>C | CA516353989 | SYN1 | c.1596A>G (p.Gln532=) c.70+300A>G (n.70+300A>G) | gnomAD v4 |
X | g.47574388T>G | CA412823156 | SYN1 | c.1596A>C (p.Gln532His) c.70+300A>C (n.70+300A>C) | |
X | g.47574389T>A | CA412823158 | SYN1 | c.1595A>T (p.Gln532Leu) c.70+299A>T (n.70+299A>T) | |
X | g.47574389T>C | CA412823160 | SYN1 | c.1595A>G (p.Gln532Arg) c.70+299A>G (n.70+299A>G) | |
X | g.47574389T>G | CA412823161 | SYN1 | c.1595A>C (p.Gln532Pro) c.70+299A>C (n.70+299A>C) | |
X | g.47574390G>A | CA412823162 | SYN1 | c.1594C>T (p.Gln532Ter) c.70+298C>T (n.70+298C>T) | ClinVar |
X | g.47574390G>C | CA412823166 | SYN1 | c.1594C>G (p.Gln532Glu) c.70+298C>G (n.70+298C>G) | |
X | g.47574390G>T | CA412823164 | SYN1 | c.1594C>A (p.Gln532Lys) c.70+298C>A (n.70+298C>A) | gnomAD v4 |
X | g.47574391G>A | CA516353990 | SYN1 | c.1593C>T (p.Arg531=) c.70+297C>T (n.70+297C>T) | gnomAD v4 |
X | g.47574391G>C | CA516353991 | SYN1 | c.1593C>G (p.Arg531=) c.70+297C>G (n.70+297C>G) | |
X | g.47574391G>T | CA516353992 | SYN1 | c.1593C>A (p.Arg531=) c.70+297C>A (n.70+297C>A) | gnomAD v4 |
X | g.47574392C>A | CA412823168 | SYN1 | c.1592G>T (p.Arg531Leu) c.70+296G>T (n.70+296G>T) | gnomAD v4 |
X | g.47574392C>G | CA412823169 | SYN1 | c.1592G>C (p.Arg531Pro) c.70+296G>C (n.70+296G>C) | |
X | g.47574392C>T | CA412823170 | SYN1 | c.1592G>A (p.Arg531His) c.70+296G>A (n.70+296G>A) | ClinVar dbSNP gnomAD v4 |
X | g.47574393G>A | CA412823172 | SYN1 | c.1591C>T (p.Arg531Cys) c.70+295C>T (n.70+295C>T) | |
X | g.47574393G>C | CA412823174 | SYN1 | c.1591C>G (p.Arg531Gly) c.70+295C>G (n.70+295C>G) | |
X | g.47574393G>T | CA412823176 | SYN1 | c.1591C>A (p.Arg531Ser) c.70+295C>A (n.70+295C>A) | gnomAD v4 |
X | g.47574394G>A | CA516353993 | SYN1 | c.1590C>T (p.Gly530=) c.70+294C>T (n.70+294C>T) | gnomAD v4 |
X | g.47574394G>C | CA516353995 | SYN1 | c.1590C>G (p.Gly530=) c.70+294C>G (n.70+294C>G) | |
X | g.47574394G>T | CA516353994 | SYN1 | c.1590C>A (p.Gly530=) c.70+294C>A (n.70+294C>A) | |
X | g.47574395C>A | CA412823178 | SYN1 | c.1589G>T (p.Gly530Val) c.70+293G>T (n.70+293G>T) | gnomAD v4 |
X | g.47574395C= | CA2427971288 | SYN1 | c.1589G= (p.Gly530=) c.70+293G= (n.70+293G=) | |
X | g.47574395C>G | CA412823180 | SYN1 | c.1589G>C (p.Gly530Ala) c.70+293G>C (n.70+293G>C) | |
X | g.47574395C>T | CA412823181 | SYN1 | c.1589G>A (p.Gly530Asp) c.70+293G>A (n.70+293G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574396C>A | CA412823187 | SYN1 | c.1588G>T (p.Gly530Cys) c.70+292G>T (n.70+292G>T) | gnomAD v4 |
X | g.47574396C>G | CA412823185 | SYN1 | c.1588G>C (p.Gly530Arg) c.70+292G>C (n.70+292G>C) | |
X | g.47574396C>T | CA412823183 | SYN1 | c.1588G>A (p.Gly530Ser) c.70+292G>A (n.70+292G>A) | gnomAD v4 |
X | g.47574397T>A | CA412823188 | SYN1 | c.1587A>T (p.Gln529His) c.70+291A>T (n.70+291A>T) | gnomAD v4 |
X | g.47574397T>C | CA516353996 | SYN1 | c.1587A>G (p.Gln529=) c.70+291A>G (n.70+291A>G) | |
X | g.47574397T>G | CA412823189 | SYN1 | c.1587A>C (p.Gln529His) c.70+291A>C (n.70+291A>C) | |
X | g.47574398T>A | CA412823191 | SYN1 | c.1586A>T (p.Gln529Leu) c.70+290A>T (n.70+290A>T) | |
X | g.47574398T>C | CA412823193 | SYN1 | c.1586A>G (p.Gln529Arg) c.70+290A>G (n.70+290A>G) | |
X | g.47574398T>G | CA412823195 | SYN1 | c.1586A>C (p.Gln529Pro) c.70+290A>C (n.70+290A>C) | |
X | g.47574399G>A | CA412823197 | SYN1 | c.1585C>T (p.Gln529Ter) c.70+289C>T (n.70+289C>T) | |
X | g.47574399G>C | CA412823199 | SYN1 | c.1585C>G (p.Gln529Glu) c.70+289C>G (n.70+289C>G) | |
X | g.47574399G>T | CA412823200 | SYN1 | c.1585C>A (p.Gln529Lys) c.70+289C>A (n.70+289C>A) | gnomAD v4 |
X | g.47574400A>C | CA516353997 | SYN1 | c.1584T>G (p.Gly528=) c.70+288T>G (n.70+288T>G) | |
X | g.47574400A>G | CA516353998 | SYN1 | c.1584T>C (p.Gly528=) c.70+288T>C (n.70+288T>C) | gnomAD v4 |
X | g.47574400A>T | CA516353999 | SYN1 | c.1584T>A (p.Gly528=) c.70+288T>A (n.70+288T>A) | |
X | g.47574401C>A | CA412823202 | SYN1 | c.1583G>T (p.Gly528Val) c.70+287G>T (n.70+287G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574401C= | CA2427971289 | SYN1 | c.1583G= (p.Gly528=) c.70+287G= (n.70+287G=) | |
X | g.47574401C>G | CA412823204 | SYN1 | c.1583G>C (p.Gly528Ala) c.70+287G>C (n.70+287G>C) | |
X | g.47574401C>T | CA412823206 | SYN1 | c.1583G>A (p.Gly528Asp) c.70+287G>A (n.70+287G>A) | |
X | g.47574402C>A | CA412823210 | SYN1 | c.1582G>T (p.Gly528Cys) c.70+286G>T (n.70+286G>T) | |
X | g.47574402C>G | CA412823208 | SYN1 | c.1582G>C (p.Gly528Arg) c.70+286G>C (n.70+286G>C) | |
X | g.47574402C>T | CA412823207 | SYN1 | c.1582G>A (p.Gly528Ser) c.70+286G>A (n.70+286G>A) | |
X | g.47574403C>A | CA412823211 | SYN1 | c.1581G>T (p.Gln527His) c.70+285G>T (n.70+285G>T) | gnomAD v4 |
X | g.47574403C= | CA2427971290 | SYN1 | c.1581G= (p.Gln527=) c.70+285G= (n.70+285G=) | |
X | g.47574403C>G | CA412823213 | SYN1 | c.1581G>C (p.Gln527His) c.70+285G>C (n.70+285G>C) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574403C>T | CA516354000 | SYN1 | c.1581G>A (p.Gln527=) c.70+285G>A (n.70+285G>A) | |
X | g.47574404T>A | CA412823214 | SYN1 | c.1580A>T (p.Gln527Leu) c.70+284A>T (n.70+284A>T) | |
X | g.47574404T>C | CA412823216 | SYN1 | c.1580A>G (p.Gln527Arg) c.70+284A>G (n.70+284A>G) | gnomAD v4 |
X | g.47574404T>G | CA412823217 | SYN1 | c.1580A>C (p.Gln527Pro) c.70+284A>C (n.70+284A>C) | |
X | g.47574405G>A | CA412823219 | SYN1 | c.1579C>T (p.Gln527Ter) c.70+283C>T (n.70+283C>T) | |
X | g.47574405G>C | CA412823221 | SYN1 | c.1579C>G (p.Gln527Glu) c.70+283C>G (n.70+283C>G) | |
X | g.47574405G>T | CA412823222 | SYN1 | c.1579C>A (p.Gln527Lys) c.70+283C>A (n.70+283C>A) | |
X | g.47574407del | CA2501666735 | SYN1 | c.1579del (p.Gln527ArgfsTer?) c.70+283del (n.70+283del) | |
X | g.47574406G>A | CA516354001 | SYN1 | c.1578C>T (p.Thr526=) c.70+282C>T (n.70+282C>T) | |
X | g.47574406G>C | CA329057324 | SYN1 | c.1578C>G (p.Thr526=) c.70+282C>G (n.70+282C>G) | ClinVar dbSNP gnomAD v2 |
X | g.47574406G= | CA2427971291 | SYN1 | c.1578C= (p.Thr526=) c.70+282C= (n.70+282C=) | |
X | g.47574406G>T | CA516354002 | SYN1 | c.1578C>A (p.Thr526=) c.70+282C>A (n.70+282C>A) | gnomAD v4 |
X | g.47574407G>A | CA412823225 | SYN1 | c.1577C>T (p.Thr526Ile) c.70+281C>T (n.70+281C>T) | ClinVar dbSNP |
X | g.47574407G>C | CA412823226 | SYN1 | c.1577C>G (p.Thr526Ser) c.70+281C>G (n.70+281C>G) | gnomAD v4 |
X | g.47574407G>T | CA412823227 | SYN1 | c.1577C>A (p.Thr526Asn) c.70+281C>A (n.70+281C>A) | gnomAD v4 |
X | g.47574408T>A | CA412823232 | SYN1 | c.1576A>T (p.Thr526Ser) c.70+280A>T (n.70+280A>T) | gnomAD v4 |
X | g.47574408T>C | CA412823230 | SYN1 | c.1576A>G (p.Thr526Ala) c.70+280A>G (n.70+280A>G) | |
X | g.47574408T>G | CA412823229 | SYN1 | c.1576A>C (p.Thr526Pro) c.70+280A>C (n.70+280A>C) | |
X | g.47574409C>A | CA516354003 | SYN1 | c.1575G>T (p.Pro525=) c.70+279G>T (n.70+279G>T) | gnomAD v4 |
X | g.47574409C= | CA2427971292 | SYN1 | c.1575G= (p.Pro525=) c.70+279G= (n.70+279G=) | |
X | g.47574409C>G | CA516354004 | SYN1 | c.1575G>C (p.Pro525=) c.70+279G>C (n.70+279G>C) | gnomAD v4 |
X | g.47574409C>T | CA10398348 | SYN1 | c.1575G>A (p.Pro525=) c.70+279G>A (n.70+279G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47574410G>A | CA412823245 | SYN1 | c.1574C>T (p.Pro525Leu) c.70+278C>T (n.70+278C>T) | gnomAD v4 |
X | g.47574410G>C | CA412823235 | SYN1 | c.1574C>G (p.Pro525Arg) c.70+278C>G (n.70+278C>G) | gnomAD v4 |
X | g.47574410G>T | CA412823243 | SYN1 | c.1574C>A (p.Pro525Gln) c.70+278C>A (n.70+278C>A) | |
X | g.47574411G>A | CA412823249 | SYN1 | c.1573C>T (p.Pro525Ser) c.70+277C>T (n.70+277C>T) | gnomAD v4 |
X | g.47574411G>C | CA412823251 | SYN1 | c.1573C>G (p.Pro525Ala) c.70+277C>G (n.70+277C>G) | |
X | g.47574411G>T | CA412823253 | SYN1 | c.1573C>A (p.Pro525Thr) c.70+277C>A (n.70+277C>A) | gnomAD v4 |
X | g.47574412C>A | CA516354005 | SYN1 | c.1572G>T (p.Pro524=) c.70+276G>T (n.70+276G>T) | |
X | g.47574412C>G | CA516354006 | SYN1 | c.1572G>C (p.Pro524=) c.70+276G>C (n.70+276G>C) | |
X | g.47574412C>T | CA516354007 | SYN1 | c.1572G>A (p.Pro524=) c.70+276G>A (n.70+276G>A) | gnomAD v4 |
X | g.47574413G>A | CA412823257 | SYN1 | c.1571C>T (p.Pro524Leu) c.70+275C>T (n.70+275C>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574413G>C | CA412823269 | SYN1 | c.1571C>G (p.Pro524Arg) c.70+275C>G (n.70+275C>G) | |
X | g.47574413G= | CA2427971293 | SYN1 | c.1571C= (p.Pro524=) c.70+275C= (n.70+275C=) | |
X | g.47574413G>T | CA412823270 | SYN1 | c.1571C>A (p.Pro524Gln) c.70+275C>A (n.70+275C>A) | gnomAD v4 |
X | g.47574414G>A | CA412823273 | SYN1 | c.1570C>T (p.Pro524Ser) c.70+274C>T (n.70+274C>T) | gnomAD v4 |
X | g.47574414G>C | CA412823275 | SYN1 | c.1570C>G (p.Pro524Ala) c.70+274C>G (n.70+274C>G) | |
X | g.47574414G>T | CA412823277 | SYN1 | c.1570C>A (p.Pro524Thr) c.70+274C>A (n.70+274C>A) | |
X | g.47574415C>A | CA516354008 | SYN1 | c.1569G>T (p.Ala523=) c.70+273G>T (n.70+273G>T) | gnomAD v4 |
X | g.47574415C= | CA2427971294 | SYN1 | c.1569G= (p.Ala523=) c.70+273G= (n.70+273G=) | |
X | g.47574415C>G | CA516354009 | SYN1 | c.1569G>C (p.Ala523=) c.70+273G>C (n.70+273G>C) | gnomAD v4 |
X | g.47574415C>T | CA293844 | SYN1 | c.1569G>A (p.Ala523=) c.70+273G>A (n.70+273G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574416G>A | CA412823287 | SYN1 | c.1568C>T (p.Ala523Val) c.70+272C>T (n.70+272C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574416G>C | CA412823283 | SYN1 | c.1568C>G (p.Ala523Gly) c.70+272C>G (n.70+272C>G) | |
X | g.47574416G= | CA2427971295 | SYN1 | c.1568C= (p.Ala523=) c.70+272C= (n.70+272C=) | |
X | g.47574416G>T | CA412823285 | SYN1 | c.1568C>A (p.Ala523Glu) c.70+272C>A (n.70+272C>A) | |
X | g.47574417C>A | CA412823289 | SYN1 | c.1567G>T (p.Ala523Ser) c.70+271G>T (n.70+271G>T) | gnomAD v4 |
X | g.47574417C>G | CA412823292 | SYN1 | c.1567G>C (p.Ala523Pro) c.70+271G>C (n.70+271G>C) | |
X | g.47574417C>T | CA412823294 | SYN1 | c.1567G>A (p.Ala523Thr) c.70+271G>A (n.70+271G>A) | gnomAD v4 |
X | g.47574418G>A | CA516354010 | SYN1 | c.1566C>T (p.Ala522=) c.70+270C>T (n.70+270C>T) | gnomAD v4 |
X | g.47574418G>C | CA516354011 | SYN1 | c.1566C>G (p.Ala522=) c.70+270C>G (n.70+270C>G) | |
X | g.47574418G>T | CA516354012 | SYN1 | c.1566C>A (p.Ala522=) c.70+270C>A (n.70+270C>A) | |
X | g.47574419del | CA2820775725 | SYN1 | c.1566del (p.Ala523ArgfsTer?) c.70+270del (n.70+270del) | |
X | g.47574419G>A | CA412823297 | SYN1 | c.1565C>T (p.Ala522Val) c.70+269C>T (n.70+269C>T) | gnomAD v4 |
X | g.47574419G>C | CA412823299 | SYN1 | c.1565C>G (p.Ala522Gly) c.70+269C>G (n.70+269C>G) | |
X | g.47574419G>T | CA412823302 | SYN1 | c.1565C>A (p.Ala522Asp) c.70+269C>A (n.70+269C>A) | |
X | g.47574420C>A | CA412823309 | SYN1 | c.1564G>T (p.Ala522Ser) c.70+268G>T (n.70+268G>T) | gnomAD v4 |
X | g.47574420C>G | CA412823312 | SYN1 | c.1564G>C (p.Ala522Pro) c.70+268G>C (n.70+268G>C) | |
X | g.47574420C>T | CA412823315 | SYN1 | c.1564G>A (p.Ala522Thr) c.70+268G>A (n.70+268G>A) | gnomAD v4 |
X | g.47574421C>A | CA412823322 | SYN1 | c.1563G>T (p.Gln521His) c.70+267G>T (n.70+267G>T) | |
X | g.47574421C>G | CA412823323 | SYN1 | c.1563G>C (p.Gln521His) c.70+267G>C (n.70+267G>C) | |
X | g.47574421C>T | CA516354013 | SYN1 | c.1563G>A (p.Gln521=) c.70+267G>A (n.70+267G>A) | |
X | g.47574422T>A | CA412823327 | SYN1 | c.1562A>T (p.Gln521Leu) c.70+266A>T (n.70+266A>T) | |
X | g.47574422T>C | CA412823331 | SYN1 | c.1562A>G (p.Gln521Arg) c.70+266A>G (n.70+266A>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574422T>G | CA412823326 | SYN1 | c.1562A>C (p.Gln521Pro) c.70+266A>C (n.70+266A>C) | gnomAD v4 |
X | g.47574422T= | CA2427971296 | SYN1 | c.1562A= (p.Gln521=) c.70+266A= (n.70+266A=) | |
X | g.47574423G>A | CA412823333 | SYN1 | c.1561C>T (p.Gln521Ter) c.70+265C>T (n.70+265C>T) | gnomAD v4 |
X | g.47574423G>C | CA412823335 | SYN1 | c.1561C>G (p.Gln521Glu) c.70+265C>G (n.70+265C>G) | |
X | g.47574423G>T | CA412823338 | SYN1 | c.1561C>A (p.Gln521Lys) c.70+265C>A (n.70+265C>A) | |
X | g.47574424G>A | CA516354014 | SYN1 | c.1560C>T (p.Ser520=) c.70+264C>T (n.70+264C>T) | |
X | g.47574424G>C | CA516354015 | SYN1 | c.1560C>G (p.Ser520=) c.70+264C>G (n.70+264C>G) | |
X | g.47574424G>T | CA516354016 | SYN1 | c.1560C>A (p.Ser520=) c.70+264C>A (n.70+264C>A) | gnomAD v4 |
X | g.47574425G>A | CA10398349 | SYN1 | c.1559C>T (p.Ser520Phe) c.70+263C>T (n.70+263C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47574425G>C | CA412823343 | SYN1 | c.1559C>G (p.Ser520Cys) c.70+263C>G (n.70+263C>G) | |
X | g.47574425G= | CA2427971297 | SYN1 | c.1559C= (p.Ser520=) c.70+263C= (n.70+263C=) | |
X | g.47574425G>T | CA412823345 | SYN1 | c.1559C>A (p.Ser520Tyr) c.70+263C>A (n.70+263C>A) | gnomAD v4 |
X | g.47574426A>C | CA412823350 | SYN1 | c.1558T>G (p.Ser520Ala) c.70+262T>G (n.70+262T>G) | |
X | g.47574426A>G | CA412823353 | SYN1 | c.1558T>C (p.Ser520Pro) c.70+262T>C (n.70+262T>C) | gnomAD v4 |
X | g.47574426A>T | CA412823355 | SYN1 | c.1558T>A (p.Ser520Thr) c.70+262T>A (n.70+262T>A) | |
X | g.47574427C>A | CA516354017 | SYN1 | c.1557G>T (p.Ala519=) c.70+261G>T (n.70+261G>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574427C= | CA2427971298 | SYN1 | c.1557G= (p.Ala519=) c.70+261G= (n.70+261G=) | |
X | g.47574427C>G | CA516354018 | SYN1 | c.1557G>C (p.Ala519=) c.70+261G>C (n.70+261G>C) | |
X | g.47574427C>T | CA329057336 | SYN1 | c.1557G>A (p.Ala519=) c.70+261G>A (n.70+261G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574428G>A | CA412823358 | SYN1 | c.1556C>T (p.Ala519Val) c.70+260C>T (n.70+260C>T) | ClinVar gnomAD v4 |
X | g.47574428G>C | CA412823361 | SYN1 | c.1556C>G (p.Ala519Gly) c.70+260C>G (n.70+260C>G) | |
X | g.47574428G>T | CA412823363 | SYN1 | c.1556C>A (p.Ala519Glu) c.70+260C>A (n.70+260C>A) | gnomAD v4 |
X | g.47574429C>A | CA412823370 | SYN1 | c.1555G>T (p.Ala519Ser) c.70+259G>T (n.70+259G>T) | |
X | g.47574429C>G | CA412823373 | SYN1 | c.1555G>C (p.Ala519Pro) c.70+259G>C (n.70+259G>C) | |
X | g.47574429C>T | CA412823366 | SYN1 | c.1555G>A (p.Ala519Thr) c.70+259G>A (n.70+259G>A) | gnomAD v4 |
X | g.47574430G>A | CA516354019 | SYN1 | c.1554C>T (p.Pro518=) c.70+258C>T (n.70+258C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574430G>C | CA516354020 | SYN1 | c.1554C>G (p.Pro518=) c.70+258C>G (n.70+258C>G) | |
X | g.47574430G= | CA2427971299 | SYN1 | c.1554C= (p.Pro518=) c.70+258C= (n.70+258C=) | |
X | g.47574430G>T | CA516354021 | SYN1 | c.1554C>A (p.Pro518=) c.70+258C>A (n.70+258C>A) | gnomAD v4 |
X | g.47574431G>A | CA412823375 | SYN1 | c.1553C>T (p.Pro518Leu) c.70+257C>T (n.70+257C>T) | |
X | g.47574431G>C | CA412823378 | SYN1 | c.1553C>G (p.Pro518Arg) c.70+257C>G (n.70+257C>G) | |
X | g.47574431G>T | CA412823380 | SYN1 | c.1553C>A (p.Pro518His) c.70+257C>A (n.70+257C>A) | gnomAD v4 |
X | g.47574432G>A | CA412823382 | SYN1 | c.1552C>T (p.Pro518Ser) c.70+256C>T (n.70+256C>T) | |
X | g.47574432G>C | CA412823384 | SYN1 | c.1552C>G (p.Pro518Ala) c.70+256C>G (n.70+256C>G) | gnomAD v4 |
X | g.47574432G>T | CA412823386 | SYN1 | c.1552C>A (p.Pro518Thr) c.70+256C>A (n.70+256C>A) | |
X | g.47574433C>A | CA412823387 | SYN1 | c.1551G>T (p.Gln517His) c.70+255G>T (n.70+255G>T) | |
X | g.47574433C>G | CA412823388 | SYN1 | c.1551G>C (p.Gln517His) c.70+255G>C (n.70+255G>C) | |
X | g.47574433C>T | CA516354022 | SYN1 | c.1551G>A (p.Gln517=) c.70+255G>A (n.70+255G>A) | |
X | g.47574434T>A | CA412823390 | SYN1 | c.1550A>T (p.Gln517Leu) c.70+254A>T (n.70+254A>T) | |
X | g.47574434T>C | CA412823395 | SYN1 | c.1550A>G (p.Gln517Arg) c.70+254A>G (n.70+254A>G) | |
X | g.47574434T>G | CA412823397 | SYN1 | c.1550A>C (p.Gln517Pro) c.70+254A>C (n.70+254A>C) | |
X | g.47574435G>A | CA412823398 | SYN1 | c.1549C>T (p.Gln517Ter) c.70+253C>T (n.70+253C>T) | gnomAD v4 |
X | g.47574435G>C | CA412823400 | SYN1 | c.1549C>G (p.Gln517Glu) c.70+253C>G (n.70+253C>G) | |
X | g.47574435G>T | CA412823401 | SYN1 | c.1549C>A (p.Gln517Lys) c.70+253C>A (n.70+253C>A) | gnomAD v4 |
X | g.47574443_47574472del | CA2820775726 | SYN1 | c.1520_1549del (p.Arg507_Gln516del) c.70+224_70+253del (n.70+224_70+253del) | |
X | g.47574436C>A | CA412823403 | SYN1 | c.1548G>T (p.Gln516His) c.70+252G>T (n.70+252G>T) | gnomAD v4 |
X | g.47574436C>G | CA412823402 | SYN1 | c.1548G>C (p.Gln516His) c.70+252G>C (n.70+252G>C) | gnomAD v4 |
X | g.47574436C>T | CA516354023 | SYN1 | c.1548G>A (p.Gln516=) c.70+252G>A (n.70+252G>A) | gnomAD v4 |
X | g.47574437T>A | CA412823405 | SYN1 | c.1547A>T (p.Gln516Leu) c.70+251A>T (n.70+251A>T) | |
X | g.47574437T>C | CA412823408 | SYN1 | c.1547A>G (p.Gln516Arg) c.70+251A>G (n.70+251A>G) | gnomAD v4 |
X | g.47574437T>G | CA412823407 | SYN1 | c.1547A>C (p.Gln516Pro) c.70+251A>C (n.70+251A>C) | |
X | g.47574438G>A | CA412823409 | SYN1 | c.1546C>T (p.Gln516Ter) c.70+250C>T (n.70+250C>T) | |
X | g.47574438G>C | CA412823412 | SYN1 | c.1546C>G (p.Gln516Glu) c.70+250C>G (n.70+250C>G) | |
X | g.47574438G>T | CA412823410 | SYN1 | c.1546C>A (p.Gln516Lys) c.70+250C>A (n.70+250C>A) | gnomAD v4 |
X | g.47574441del | CA2693585221 | SYN1 | c.1546del (p.Gln516SerfsTer?) c.70+250del (n.70+250del) | gnomAD v4 |
X | g.47574439G>A | CA516354024 | SYN1 | c.1545C>T (p.Pro515=) c.70+249C>T (n.70+249C>T) | gnomAD v4 |
X | g.47574439G>C | CA516354025 | SYN1 | c.1545C>G (p.Pro515=) c.70+249C>G (n.70+249C>G) | |
X | g.47574439G>T | CA516354026 | SYN1 | c.1545C>A (p.Pro515=) c.70+249C>A (n.70+249C>A) | |
X | g.47574440G>A | CA412823413 | SYN1 | c.1544C>T (p.Pro515Leu) c.70+248C>T (n.70+248C>T) | |
X | g.47574440G>C | CA412823415 | SYN1 | c.1544C>G (p.Pro515Arg) c.70+248C>G (n.70+248C>G) | |
X | g.47574440G>T | CA412823414 | SYN1 | c.1544C>A (p.Pro515His) c.70+248C>A (n.70+248C>A) | |
X | g.47574441G>A | CA412823417 | SYN1 | c.1543C>T (p.Pro515Ser) c.70+247C>T (n.70+247C>T) | gnomAD v4 |
X | g.47574441G>C | CA318961 | SYN1 | c.1543C>G (p.Pro515Ala) c.70+247C>G (n.70+247C>G) | ClinVar dbSNP |
X | g.47574441G= | CA2427971300 | SYN1 | c.1543C= (p.Pro515=) c.70+247C= (n.70+247C=) | |
X | g.47574441G>T | CA412823420 | SYN1 | c.1543C>A (p.Pro515Thr) c.70+247C>A (n.70+247C>A) | |
X | g.47574442C>A | CA516354029 | SYN1 | c.1542G>T (p.Ala514=) c.70+246G>T (n.70+246G>T) | gnomAD v4 |
X | g.47574442C= | CA2427971301 | SYN1 | c.1542G= (p.Ala514=) c.70+246G= (n.70+246G=) | |
X | g.47574442C>G | CA516354028 | SYN1 | c.1542G>C (p.Ala514=) c.70+246G>C (n.70+246G>C) | |
X | g.47574442C>T | CA516354027 | SYN1 | c.1542G>A (p.Ala514=) c.70+246G>A (n.70+246G>A) | dbSNP gnomAD v4 |
X | g.47574443G>A | CA412823421 | SYN1 | c.1541C>T (p.Ala514Val) c.70+245C>T (n.70+245C>T) | dbSNP gnomAD v4 |
X | g.47574443G>C | CA412823422 | SYN1 | c.1541C>G (p.Ala514Gly) c.70+245C>G (n.70+245C>G) | |
X | g.47574443G= | CA2427971302 | SYN1 | c.1541C= (p.Ala514=) c.70+245C= (n.70+245C=) | |
X | g.47574443G>T | CA412823423 | SYN1 | c.1541C>A (p.Ala514Glu) c.70+245C>A (n.70+245C>A) | gnomAD v4 |
X | g.47574444C>A | CA412823428 | SYN1 | c.1540G>T (p.Ala514Ser) c.70+244G>T (n.70+244G>T) | |
X | g.47574444C>G | CA412823426 | SYN1 | c.1540G>C (p.Ala514Pro) c.70+244G>C (n.70+244G>C) | |
X | g.47574444C>T | CA412823425 | SYN1 | c.1540G>A (p.Ala514Thr) c.70+244G>A (n.70+244G>A) | gnomAD v4 |
X | g.47574445T>A | CA516354030 | SYN1 | c.1539A>T (p.Ser513=) c.70+243A>T (n.70+243A>T) | |
X | g.47574445T>C | CA516354031 | SYN1 | c.1539A>G (p.Ser513=) c.70+243A>G (n.70+243A>G) | gnomAD v4 |
X | g.47574445T>G | CA516354032 | SYN1 | c.1539A>C (p.Ser513=) c.70+243A>C (n.70+243A>C) | |
X | g.47574446G>A | CA412823430 | SYN1 | c.1538C>T (p.Ser513Leu) c.70+242C>T (n.70+242C>T) | ClinVar gnomAD v4 |
X | g.47574446G>C | CA412823432 | SYN1 | c.1538C>G (p.Ser513Ter) c.70+242C>G (n.70+242C>G) | |
X | g.47574446G>T | CA412823433 | SYN1 | c.1538C>A (p.Ser513Ter) c.70+242C>A (n.70+242C>A) | |
X | g.47574447A>C | CA412823435 | SYN1 | c.1537T>G (p.Ser513Ala) c.70+241T>G (n.70+241T>G) | |
X | g.47574447A>G | CA412823438 | SYN1 | c.1537T>C (p.Ser513Pro) c.70+241T>C (n.70+241T>C) | |
X | g.47574447A>T | CA412823439 | SYN1 | c.1537T>A (p.Ser513Thr) c.70+241T>A (n.70+241T>A) | gnomAD v4 |
X | g.47574448G>A | CA516354036 | SYN1 | c.1536C>T (p.Thr512=) c.70+240C>T (n.70+240C>T) | |
X | g.47574448G>C | CA516354037 | SYN1 | c.1536C>G (p.Thr512=) c.70+240C>G (n.70+240C>G) | |
X | g.47574448G>T | CA516354038 | SYN1 | c.1536C>A (p.Thr512=) c.70+240C>A (n.70+240C>A) | gnomAD v4 |
X | g.47574449G>A | CA412823441 | SYN1 | c.1535C>T (p.Thr512Ile) c.70+239C>T (n.70+239C>T) | gnomAD v4 |
X | g.47574449G>C | CA412823444 | SYN1 | c.1535C>G (p.Thr512Ser) c.70+239C>G (n.70+239C>G) | |
X | g.47574449G>T | CA412823442 | SYN1 | c.1535C>A (p.Thr512Asn) c.70+239C>A (n.70+239C>A) | gnomAD v4 |
X | g.47574450T>A | CA412823447 | SYN1 | c.1534A>T (p.Thr512Ser) c.70+238A>T (n.70+238A>T) | |
X | g.47574450T>C | CA412823448 | SYN1 | c.1534A>G (p.Thr512Ala) c.70+238A>G (n.70+238A>G) | gnomAD v4 |
X | g.47574450T>G | CA412823451 | SYN1 | c.1534A>C (p.Thr512Pro) c.70+238A>C (n.70+238A>C) | |
X | g.47574451G>A | CA516354041 | SYN1 | c.1533C>T (p.Pro511=) c.70+237C>T (n.70+237C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574451G>C | CA516354042 | SYN1 | c.1533C>G (p.Pro511=) c.70+237C>G (n.70+237C>G) | |
X | g.47574451G= | CA2427971303 | SYN1 | c.1533C= (p.Pro511=) c.70+237C= (n.70+237C=) | |
X | g.47574451G>T | CA516354043 | SYN1 | c.1533C>A (p.Pro511=) c.70+237C>A (n.70+237C>A) | gnomAD v4 |
X | g.47574453del | CA2693585222 | SYN1 | c.1533del (p.Thr512ProfsTer?) c.70+237del (n.70+237del) | gnomAD v4 |
X | g.47574452G>A | CA412823456 | SYN1 | c.1532C>T (p.Pro511Leu) c.70+236C>T (n.70+236C>T) | gnomAD v4 |
X | g.47574452G>C | CA412823458 | SYN1 | c.1532C>G (p.Pro511Arg) c.70+236C>G (n.70+236C>G) | |
X | g.47574452G>T | CA412823461 | SYN1 | c.1532C>A (p.Pro511His) c.70+236C>A (n.70+236C>A) | gnomAD v4 |
X | g.47574453G>A | CA329057340 | SYN1 | c.1531C>T (p.Pro511Ser) c.70+235C>T (n.70+235C>T) | dbSNP gnomAD v4 |
X | g.47574453G>C | CA412823465 | SYN1 | c.1531C>G (p.Pro511Ala) c.70+235C>G (n.70+235C>G) | |
X | g.47574453G= | CA2427971304 | SYN1 | c.1531C= (p.Pro511=) c.70+235C= (n.70+235C=) | |
X | g.47574453G>T | CA412823470 | SYN1 | c.1531C>A (p.Pro511Thr) c.70+235C>A (n.70+235C>A) | gnomAD v4 |
X | g.47574454A>C | CA412823472 | SYN1 | c.1530T>G (p.Ser510Arg) c.70+234T>G (n.70+234T>G) | |
X | g.47574454A>G | CA516354045 | SYN1 | c.1530T>C (p.Ser510=) c.70+234T>C (n.70+234T>C) | |
X | g.47574454A>T | CA412823475 | SYN1 | c.1530T>A (p.Ser510Arg) c.70+234T>A (n.70+234T>A) | |
X | g.47574455C>A | CA412823477 | SYN1 | c.1529G>T (p.Ser510Ile) c.70+233G>T (n.70+233G>T) | gnomAD v4 |
X | g.47574455C>G | CA412823483 | SYN1 | c.1529G>C (p.Ser510Thr) c.70+233G>C (n.70+233G>C) | |
X | g.47574455C>T | CA412823478 | SYN1 | c.1529G>A (p.Ser510Asn) c.70+233G>A (n.70+233G>A) | |
X | g.47574456T>A | CA412823485 | SYN1 | c.1528A>T (p.Ser510Cys) c.70+232A>T (n.70+232A>T) | |
X | g.47574456T>C | CA412823486 | SYN1 | c.1528A>G (p.Ser510Gly) c.70+232A>G (n.70+232A>G) | gnomAD v4 |
X | g.47574456T>G | CA412823489 | SYN1 | c.1528A>C (p.Ser510Arg) c.70+232A>C (n.70+232A>C) | |
X | g.47574457T>A | CA516354050 | SYN1 | c.1527A>T (p.Pro509=) c.70+231A>T (n.70+231A>T) | |
X | g.47574457T>C | CA516354049 | SYN1 | c.1527A>G (p.Pro509=) c.70+231A>G (n.70+231A>G) | gnomAD v4 |
X | g.47574457T>G | CA516354048 | SYN1 | c.1527A>C (p.Pro509=) c.70+231A>C (n.70+231A>C) | |
X | g.47574458G>A | CA412823492 | SYN1 | c.1526C>T (p.Pro509Leu) c.70+230C>T (n.70+230C>T) | gnomAD v4 |
X | g.47574458G>C | CA412823499 | SYN1 | c.1526C>G (p.Pro509Arg) c.70+230C>G (n.70+230C>G) | COSMIC COSMIC |
X | g.47574458G>T | CA412823502 | SYN1 | c.1526C>A (p.Pro509Gln) c.70+230C>A (n.70+230C>A) | gnomAD v4 |
X | g.47574459del | CA2693585223 | SYN1 | c.1526del (p.Pro509GlnfsTer?) c.70+230del (n.70+230del) | gnomAD v4 |
X | g.47574459G>A | CA412823504 | SYN1 | c.1525C>T (p.Pro509Ser) c.70+229C>T (n.70+229C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574459G>C | CA412823507 | SYN1 | c.1525C>G (p.Pro509Ala) c.70+229C>G (n.70+229C>G) | gnomAD v4 |
X | g.47574459G= | CA2427971305 | SYN1 | c.1525C= (p.Pro509=) c.70+229C= (n.70+229C=) | |
X | g.47574459G>T | CA412823508 | SYN1 | c.1525C>A (p.Pro509Thr) c.70+229C>A (n.70+229C>A) | gnomAD v4 |
X | g.47574460A>C | CA516354056 | SYN1 | c.1524T>G (p.Leu508=) c.70+228T>G (n.70+228T>G) | |
X | g.47574460A>G | CA516354055 | SYN1 | c.1524T>C (p.Leu508=) c.70+228T>C (n.70+228T>C) | dbSNP gnomAD v4 |
X | g.47574460A>T | CA516354054 | SYN1 | c.1524T>A (p.Leu508=) c.70+228T>A (n.70+228T>A) | gnomAD v4 |
X | g.47574461del | CA2693585224 | SYN1 | c.1524del (p.Pro509GlnfsTer?) c.70+228del (n.70+228del) | gnomAD v4 |
X | g.47574461A>C | CA412823511 | SYN1 | c.1523T>G (p.Leu508Arg) c.70+227T>G (n.70+227T>G) | |
X | g.47574461A>G | CA412823512 | SYN1 | c.1523T>C (p.Leu508Pro) c.70+227T>C (n.70+227T>C) | gnomAD v4 |
X | g.47574461A>T | CA412823514 | SYN1 | c.1523T>A (p.Leu508His) c.70+227T>A (n.70+227T>A) | gnomAD v4 |
X | g.47574462G>A | CA412823520 | SYN1 | c.1522C>T (p.Leu508Phe) c.70+226C>T (n.70+226C>T) | |
X | g.47574462G>C | CA412823517 | SYN1 | c.1522C>G (p.Leu508Val) c.70+226C>G (n.70+226C>G) | |
X | g.47574462G>T | CA412823519 | SYN1 | c.1522C>A (p.Leu508Ile) c.70+226C>A (n.70+226C>A) | gnomAD v4 |
X | g.47574472_47574564del | CA2693585225 | SYN1 | c.1430_1522del (p.Gln477_Arg507del) c.70+134_70+226del (n.70+134_70+226del) | gnomAD v4 |
X | g.47574463G>A | CA516354058 | SYN1 | c.1521C>T (p.Arg507=) c.70+225C>T (n.70+225C>T) | gnomAD v4 |
X | g.47574463G>C | CA516354062 | SYN1 | c.1521C>G (p.Arg507=) c.70+225C>G (n.70+225C>G) | gnomAD v4 |
X | g.47574463G>T | CA516354059 | SYN1 | c.1521C>A (p.Arg507=) c.70+225C>A (n.70+225C>A) | gnomAD v4 |