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.47574333_47574337delinsAGGCG | CA2427971267 | SYN1 | c.1647_1651delinsCGCCT (p.Pro549=) c.70+351_70+355delinsCGCCT (n.70+351_70+355delinsCGCCT) | |
| X | g.47574345_47574348dup | CA2579596678 | SYN1 | c.1647_1650dup (p.Ser551ArgfsTer?) c.70+351_70+354dup (n.70+351_70+354dup) | ClinVar |
| X | g.47574345_47574348del | CA516353937 | SYN1 | c.1647_1650del (p.Ala550LeufsTer?) c.70+351_70+354del (n.70+351_70+354del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.47574335_47574336delinsAA | CA1139667510 | SYN1 | c.1648_1649delinsTT (p.Ala550Phe) c.70+352_70+353delinsTT (n.70+352_70+353delinsTT) | ClinVar dbSNP |
| X | g.47574335_47574336delinsGC | CA2427971269 | SYN1 | c.1648_1649delinsGC (p.Ala550=) c.70+352_70+353delinsGC (n.70+352_70+353delinsGC) | |
| X | g.47574336C>A | CA412823022 | SYN1 | c.1648G>T (p.Ala550Ser) c.70+352G>T (n.70+352G>T) | gnomAD v4 |
| X | g.47574336C= | CA2427971270 | SYN1 | c.1648G= (p.Ala550=) c.70+352G= (n.70+352G=) | |
| X | g.47574336C>G | CA329057259 | SYN1 | c.1648G>C (p.Ala550Pro) c.70+352G>C (n.70+352G>C) | dbSNP gnomAD v4 |
| X | g.47574336C>T | CA130887 | SYN1 | c.1648G>A (p.Ala550Thr) c.70+352G>A (n.70+352G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574337G>A | CA516353941 | SYN1 | c.1647C>T (p.Pro549=) c.70+351C>T (n.70+351C>T) | ClinVar gnomAD v4 |
| X | g.47574337G>C | CA516353942 | SYN1 | c.1647C>G (p.Pro549=) c.70+351C>G (n.70+351C>G) | |
| X | g.47574337G>T | CA516353943 | SYN1 | c.1647C>A (p.Pro549=) c.70+351C>A (n.70+351C>A) | gnomAD v4 |
| X | g.47574338G>A | CA412823025 | SYN1 | c.1646C>T (p.Pro549Leu) c.70+350C>T (n.70+350C>T) | ClinVar gnomAD v4 |
| X | g.47574338G>C | CA412823027 | SYN1 | c.1646C>G (p.Pro549Arg) c.70+350C>G (n.70+350C>G) | |
| X | g.47574338G>T | CA412823028 | SYN1 | c.1646C>A (p.Pro549His) c.70+350C>A (n.70+350C>A) | gnomAD v4 |
| X | g.47574339G>A | CA412823030 | SYN1 | c.1645C>T (p.Pro549Ser) c.70+349C>T (n.70+349C>T) | gnomAD v4 |
| X | g.47574339G>C | CA412823032 | SYN1 | c.1645C>G (p.Pro549Ala) c.70+349C>G (n.70+349C>G) | |
| X | g.47574339G>T | CA412823033 | SYN1 | c.1645C>A (p.Pro549Thr) c.70+349C>A (n.70+349C>A) | gnomAD v4 |
| X | g.47574340C>A | CA516353944 | SYN1 | c.1644G>T (p.Pro548=) c.70+348G>T (n.70+348G>T) | gnomAD v4 |
| X | g.47574340C= | CA2427971271 | SYN1 | c.1644G= (p.Pro548=) c.70+348G= (n.70+348G=) | |
| X | g.47574340C>G | CA329057265 | SYN1 | c.1644G>C (p.Pro548=) c.70+348G>C (n.70+348G>C) | dbSNP |
| X | g.47574340C>T | CA516353945 | SYN1 | c.1644G>A (p.Pro548=) c.70+348G>A (n.70+348G>A) | gnomAD v4 |
| X | g.47574341G>A | CA412823035 | SYN1 | c.1643C>T (p.Pro548Leu) c.70+347C>T (n.70+347C>T) | gnomAD v4 |
| X | g.47574341G>C | CA412823037 | SYN1 | c.1643C>G (p.Pro548Arg) c.70+347C>G (n.70+347C>G) | |
| X | g.47574341G>T | CA412823038 | SYN1 | c.1643C>A (p.Pro548Gln) c.70+347C>A (n.70+347C>A) | |
| X | g.47574342G>A | CA412823041 | SYN1 | c.1642C>T (p.Pro548Ser) c.70+346C>T (n.70+346C>T) | gnomAD v4 |
| X | g.47574342G>C | CA412823039 | SYN1 | c.1642C>G (p.Pro548Ala) c.70+346C>G (n.70+346C>G) | gnomAD v4 |
| X | g.47574342G>T | CA412823040 | SYN1 | c.1642C>A (p.Pro548Thr) c.70+346C>A (n.70+346C>A) | |
| X | g.47574343G>A | CA516353946 | SYN1 | c.1641C>T (p.Arg547=) c.70+345C>T (n.70+345C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574343G>C | CA516353947 | SYN1 | c.1641C>G (p.Arg547=) c.70+345C>G (n.70+345C>G) | |
| X | g.47574343G>T | CA516353948 | SYN1 | c.1641C>A (p.Arg547=) c.70+345C>A (n.70+345C>A) | gnomAD v4 |
| X | g.47574344C>A | CA412823043 | SYN1 | c.1640G>T (p.Arg547Leu) c.70+344G>T (n.70+344G>T) | gnomAD v4 |
| X | g.47574344C= | CA2427971272 | SYN1 | c.1640G= (p.Arg547=) c.70+344G= (n.70+344G=) | |
| X | g.47574344C>G | CA329057267 | SYN1 | c.1640G>C (p.Arg547Pro) c.70+344G>C (n.70+344G>C) | dbSNP gnomAD v4 |
| X | g.47574344C>T | CA412823045 | SYN1 | c.1640G>A (p.Arg547His) c.70+344G>A (n.70+344G>A) | gnomAD v4 |
| X | g.47574345G>A | CA412823047 | SYN1 | c.1639C>T (p.Arg547Cys) c.70+343C>T (n.70+343C>T) | gnomAD v4 |
| X | g.47574345G>C | CA412823048 | SYN1 | c.1639C>G (p.Arg547Gly) c.70+343C>G (n.70+343C>G) | |
| X | g.47574345G>T | CA412823050 | SYN1 | c.1639C>A (p.Arg547Ser) c.70+343C>A (n.70+343C>A) | gnomAD v4 |
| X | g.47574346G>A | CA516353951 | SYN1 | c.1638C>T (p.Ala546=) c.70+342C>T (n.70+342C>T) | gnomAD v4 |
| X | g.47574346G>C | CA516353950 | SYN1 | c.1638C>G (p.Ala546=) c.70+342C>G (n.70+342C>G) | |
| X | g.47574346G>T | CA516353949 | SYN1 | c.1638C>A (p.Ala546=) c.70+342C>A (n.70+342C>A) | |
| X | g.47574347G>A | CA412823052 | SYN1 | c.1637C>T (p.Ala546Val) c.70+341C>T (n.70+341C>T) | gnomAD v4 |
| X | g.47574347G>C | CA412823053 | SYN1 | c.1637C>G (p.Ala546Gly) c.70+341C>G (n.70+341C>G) | |
| X | g.47574347G>T | CA412823054 | SYN1 | c.1637C>A (p.Ala546Asp) c.70+341C>A (n.70+341C>A) | gnomAD v4 |
| X | g.47574348C>A | CA412823055 | SYN1 | c.1636G>T (p.Ala546Ser) c.70+340G>T (n.70+340G>T) | gnomAD v4 |
| X | g.47574348C>G | CA412823056 | SYN1 | c.1636G>C (p.Ala546Pro) c.70+340G>C (n.70+340G>C) | |
| X | g.47574348C>T | CA412823057 | SYN1 | c.1636G>A (p.Ala546Thr) c.70+340G>A (n.70+340G>A) | gnomAD v4 |
| X | g.47574351_47574423del | CA2820775724 | SYN1 | c.1564_1636del (p.Ala522ProfsTer?) c.70+268_70+340del (n.70+268_70+340del) | |
| X | g.47574349T>A | CA516353952 | SYN1 | c.1635A>T (p.Ala545=) c.70+339A>T (n.70+339A>T) | |
| X | g.47574349T>C | CA516353953 | SYN1 | c.1635A>G (p.Ala545=) c.70+339A>G (n.70+339A>G) | gnomAD v3 gnomAD v4 |
| X | g.47574349T>G | CA516353954 | SYN1 | c.1635A>C (p.Ala545=) c.70+339A>C (n.70+339A>C) | |
| X | g.47574350del | CA2693585165 | SYN1 | c.1634del (p.Ala545GlufsTer?) c.70+338del (n.70+338del) | gnomAD v4 |
| X | g.47574350G>A | CA412823058 | SYN1 | c.1634C>T (p.Ala545Val) c.70+338C>T (n.70+338C>T) | gnomAD v4 |
| X | g.47574350G>C | CA412823059 | SYN1 | c.1634C>G (p.Ala545Gly) c.70+338C>G (n.70+338C>G) | |
| X | g.47574350G= | CA2427971273 | SYN1 | c.1634C= (p.Ala545=) c.70+338C= (n.70+338C=) | |
| X | g.47574350G>T | CA329057283 | SYN1 | c.1634C>A (p.Ala545Glu) c.70+338C>A (n.70+338C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.47574351C>A | CA412823060 | SYN1 | c.1633G>T (p.Ala545Ser) c.70+337G>T (n.70+337G>T) | gnomAD v4 |
| X | g.47574351C>G | CA412823061 | SYN1 | c.1633G>C (p.Ala545Pro) c.70+337G>C (n.70+337G>C) | |
| X | g.47574351C>T | CA412823062 | SYN1 | c.1633G>A (p.Ala545Thr) c.70+337G>A (n.70+337G>A) | gnomAD v4 |
| X | g.47574352T>A | CA516353955 | SYN1 | c.1632A>T (p.Pro544=) c.70+336A>T (n.70+336A>T) | |
| X | g.47574352T>C | CA516353957 | SYN1 | c.1632A>G (p.Pro544=) c.70+336A>G (n.70+336A>G) | gnomAD v4 |
| X | g.47574352T>G | CA516353956 | SYN1 | c.1632A>C (p.Pro544=) c.70+336A>C (n.70+336A>C) | |
| X | g.47574353G>A | CA412823063 | SYN1 | c.1631C>T (p.Pro544Leu) c.70+335C>T (n.70+335C>T) | gnomAD v4 |
| X | g.47574353G>C | CA412823065 | SYN1 | c.1631C>G (p.Pro544Arg) c.70+335C>G (n.70+335C>G) | |
| X | g.47574353G>T | CA412823066 | SYN1 | c.1631C>A (p.Pro544Gln) c.70+335C>A (n.70+335C>A) | gnomAD v4 |
| X | g.47574354del | CA2693585166 | SYN1 | c.1631del (p.Pro544GlnfsTer?) c.70+335del (n.70+335del) | gnomAD v4 |
| X | g.47574354G>A | CA412823070 | SYN1 | c.1630C>T (p.Pro544Ser) c.70+334C>T (n.70+334C>T) | |
| X | g.47574354G>C | CA412823068 | SYN1 | c.1630C>G (p.Pro544Ala) c.70+334C>G (n.70+334C>G) | |
| X | g.47574354G>T | CA412823067 | SYN1 | c.1630C>A (p.Pro544Thr) c.70+334C>A (n.70+334C>A) | |
| X | g.47574355A= | CA2427971274 | SYN1 | c.1629T= (p.Pro543=) c.70+333T= (n.70+333T=) | |
| X | g.47574355A>C | CA516353958 | SYN1 | c.1629T>G (p.Pro543=) c.70+333T>G (n.70+333T>G) | gnomAD v4 |
| X | g.47574355A>G | CA329057288 | SYN1 | c.1629T>C (p.Pro543=) c.70+333T>C (n.70+333T>C) | ClinVar dbSNP gnomAD v4 |
| X | g.47574355A>T | CA516353959 | SYN1 | c.1629T>A (p.Pro543=) c.70+333T>A (n.70+333T>A) | |
| X | g.47574356G>A | CA412823071 | SYN1 | c.1628C>T (p.Pro543Leu) c.70+332C>T (n.70+332C>T) | |
| X | g.47574356G>C | CA412823072 | SYN1 | c.1628C>G (p.Pro543Arg) c.70+332C>G (n.70+332C>G) | |
| X | g.47574356G>T | CA412823073 | SYN1 | c.1628C>A (p.Pro543His) c.70+332C>A (n.70+332C>A) | |
| 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.47574357G>A | CA329057293 | SYN1 | c.1627C>T (p.Pro543Ser) c.70+331C>T (n.70+331C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574357G>C | CA412823074 | SYN1 | c.1627C>G (p.Pro543Ala) c.70+331C>G (n.70+331C>G) | |
| X | g.47574357G= | CA2427971275 | SYN1 | c.1627C= (p.Pro543=) c.70+331C= (n.70+331C=) | |
| X | g.47574357G>T | CA412823075 | SYN1 | c.1627C>A (p.Pro543Thr) c.70+331C>A (n.70+331C>A) | gnomAD v4 |
| X | g.47574359_47574360del | CA2579596679 | SYN1 | c.1626_1627del (p.Pro543SerfsTer?) c.70+330_70+331del (n.70+330_70+331del) | |
| X | g.47574358C>A | CA516353960 | SYN1 | c.1626G>T (p.Ala542=) c.70+330G>T (n.70+330G>T) | dbSNP gnomAD v4 |
| X | g.47574358C>G | CA516353962 | SYN1 | c.1626G>C (p.Ala542=) c.70+330G>C (n.70+330G>C) | |
| X | g.47574358C>T | CA516353961 | SYN1 | c.1626G>A (p.Ala542=) c.70+330G>A (n.70+330G>A) | gnomAD v4 |
| X | g.47574359G>A | CA412823076 | SYN1 | c.1625C>T (p.Ala542Val) c.70+329C>T (n.70+329C>T) | gnomAD v4 |
| X | g.47574359G>C | CA412823079 | SYN1 | c.1625C>G (p.Ala542Gly) c.70+329C>G (n.70+329C>G) | |
| X | g.47574359G>T | CA412823078 | SYN1 | c.1625C>A (p.Ala542Glu) c.70+329C>A (n.70+329C>A) | gnomAD v4 |
| X | g.47574360C>A | CA412823081 | SYN1 | c.1624G>T (p.Ala542Ser) c.70+328G>T (n.70+328G>T) | dbSNP |
| X | g.47574360C= | CA2427971276 | SYN1 | c.1624G= (p.Ala542=) c.70+328G= (n.70+328G=) | |
| X | g.47574360C>G | CA412823082 | SYN1 | c.1624G>C (p.Ala542Pro) c.70+328G>C (n.70+328G>C) | |
| X | g.47574360C>T | CA412823084 | SYN1 | c.1624G>A (p.Ala542Thr) c.70+328G>A (n.70+328G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.47574363del | CA2693585181 | SYN1 | c.1624del (p.Ala542ArgfsTer?) c.70+328del (n.70+328del) | gnomAD v4 |
| X | g.47574361C>A | CA516353963 | SYN1 | c.1623G>T (p.Gly541=) c.70+327G>T (n.70+327G>T) | |
| X | g.47574361C>G | CA516353964 | SYN1 | c.1623G>C (p.Gly541=) c.70+327G>C (n.70+327G>C) | |
| X | g.47574361C>T | CA516353965 | SYN1 | c.1623G>A (p.Gly541=) c.70+327G>A (n.70+327G>A) | gnomAD v4 |
| X | g.47574362C>A | CA412823085 | SYN1 | c.1622G>T (p.Gly541Val) c.70+326G>T (n.70+326G>T) | gnomAD v4 |
| X | g.47574362C>G | CA412823087 | SYN1 | c.1622G>C (p.Gly541Ala) c.70+326G>C (n.70+326G>C) | |
| X | g.47574362C>T | CA412823088 | SYN1 | c.1622G>A (p.Gly541Glu) c.70+326G>A (n.70+326G>A) | |
| 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 |