Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47574008_47574009delinsTG | CA2427971148 | SYN1 | c.1975_1976delinsCA (p.Gln659=) c.70+679_70+680delinsCA (n.70+679_70+680delinsCA) | |
X | g.47574009G>A | CA412821984 | SYN1 | c.1975C>T (p.Gln659Ter) c.70+679C>T (n.70+679C>T) | gnomAD v4 |
X | g.47574009G>C | CA412821986 | SYN1 | c.1975C>G (p.Gln659Glu) c.70+679C>G (n.70+679C>G) | |
X | g.47574009G>T | CA412821988 | SYN1 | c.1975C>A (p.Gln659Lys) c.70+679C>A (n.70+679C>A) | gnomAD v4 |
X | g.47574013del | CA641900862 | SYN1 | c.1975del (p.Gln659SerfsTer8) c.1975del (p.Gln659SerfsTer?) c.70+679del (n.70+679del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574010G>A | CA516353215 | SYN1 | c.1974C>T (p.Pro658=) c.70+678C>T (n.70+678C>T) | gnomAD v4 |
X | g.47574010G>C | CA516353216 | SYN1 | c.1974C>G (p.Pro658=) c.70+678C>G (n.70+678C>G) | |
X | g.47574010G>T | CA516353217 | SYN1 | c.1974C>A (p.Pro658=) c.70+678C>A (n.70+678C>A) | gnomAD v4 COSMIC COSMIC |
X | g.47574011G>A | CA412821994 | SYN1 | c.1973C>T (p.Pro658Leu) c.70+677C>T (n.70+677C>T) | gnomAD v4 |
X | g.47574011G>C | CA412821991 | SYN1 | c.1973C>G (p.Pro658Arg) c.70+677C>G (n.70+677C>G) | |
X | g.47574011G>T | CA412821990 | SYN1 | c.1973C>A (p.Pro658His) c.70+677C>A (n.70+677C>A) | gnomAD v4 |
X | g.47574012G>A | CA10398340 | SYN1 | c.1972C>T (p.Pro658Ser) c.70+676C>T (n.70+676C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47574012G>C | CA412821997 | SYN1 | c.1972C>G (p.Pro658Ala) c.70+676C>G (n.70+676C>G) | |
X | g.47574012G= | CA2427971149 | SYN1 | c.1972C= (p.Pro658=) c.70+676C= (n.70+676C=) | |
X | g.47574012G>T | CA412821998 | SYN1 | c.1972C>A (p.Pro658Thr) c.70+676C>A (n.70+676C>A) | gnomAD v4 |
X | g.47574013G>A | CA10398341 | SYN1 | c.1971C>T (p.His657=) c.70+675C>T (n.70+675C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574013G>C | CA412822001 | SYN1 | c.1971C>G (p.His657Gln) c.70+675C>G (n.70+675C>G) | gnomAD v4 |
X | g.47574013G= | CA2427971150 | SYN1 | c.1971C= (p.His657=) c.70+675C= (n.70+675C=) | |
X | g.47574013G>T | CA412822003 | SYN1 | c.1971C>A (p.His657Gln) c.70+675C>A (n.70+675C>A) | gnomAD v4 |
X | g.47574014T>A | CA329057155 | SYN1 | c.1970A>T (p.His657Leu) c.70+674A>T (n.70+674A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574014T>C | CA412822006 | SYN1 | c.1970A>G (p.His657Arg) c.70+674A>G (n.70+674A>G) | gnomAD v4 |
X | g.47574014T>G | CA412822008 | SYN1 | c.1970A>C (p.His657Pro) c.70+674A>C (n.70+674A>C) | ClinVar dbSNP gnomAD v4 |
X | g.47574014T= | CA2427971151 | SYN1 | c.1970A= (p.His657=) c.70+674A= (n.70+674A=) | |
X | g.47574015G>A | CA412822009 | SYN1 | c.1969C>T (p.His657Tyr) c.70+673C>T (n.70+673C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574015G>C | CA412822010 | SYN1 | c.1969C>G (p.His657Asp) c.70+673C>G (n.70+673C>G) | |
X | g.47574015G= | CA2427971152 | SYN1 | c.1969C= (p.His657=) c.70+673C= (n.70+673C=) | |
X | g.47574015G>T | CA412822011 | SYN1 | c.1969C>A (p.His657Asn) c.70+673C>A (n.70+673C>A) | gnomAD v4 |
X | g.47574016C>A | CA516353220 | SYN1 | c.1968G>T (p.Pro656=) c.70+672G>T (n.70+672G>T) | gnomAD v4 |
X | g.47574016C= | CA2427971153 | SYN1 | c.1968G= (p.Pro656=) c.70+672G= (n.70+672G=) | |
X | g.47574016C>G | CA516353221 | SYN1 | c.1968G>C (p.Pro656=) c.70+672G>C (n.70+672G>C) | |
X | g.47574016C>T | CA318931 | SYN1 | c.1968G>A (p.Pro656=) c.70+672G>A (n.70+672G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574017G>A | CA412822019 | SYN1 | c.1967C>T (p.Pro656Leu) c.70+671C>T (n.70+671C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574017G>C | CA412822015 | SYN1 | c.1967C>G (p.Pro656Arg) c.70+671C>G (n.70+671C>G) | |
X | g.47574017G= | CA2427971154 | SYN1 | c.1967C= (p.Pro656=) c.70+671C= (n.70+671C=) | |
X | g.47574017G>T | CA412822017 | SYN1 | c.1967C>A (p.Pro656Gln) c.70+671C>A (n.70+671C>A) | gnomAD v4 |
X | g.47574018G>A | CA412822021 | SYN1 | c.1966C>T (p.Pro656Ser) c.70+670C>T (n.70+670C>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574018G>C | CA412822023 | SYN1 | c.1966C>G (p.Pro656Ala) c.70+670C>G (n.70+670C>G) | gnomAD v4 |
X | g.47574018G= | CA2427971155 | SYN1 | c.1966C= (p.Pro656=) c.70+670C= (n.70+670C=) | |
X | g.47574018G>T | CA412822025 | SYN1 | c.1966C>A (p.Pro656Thr) c.70+670C>A (n.70+670C>A) | gnomAD v4 |
X | g.47574019A>C | CA516353223 | SYN1 | c.1965T>G (p.Pro655=) c.70+669T>G (n.70+669T>G) | |
X | g.47574019A>G | CA516353224 | SYN1 | c.1965T>C (p.Pro655=) c.70+669T>C (n.70+669T>C) | gnomAD v4 |
X | g.47574019A>T | CA516353225 | SYN1 | c.1965T>A (p.Pro655=) c.70+669T>A (n.70+669T>A) | gnomAD v4 |
X | g.47574020G>A | CA412822027 | SYN1 | c.1964C>T (p.Pro655Leu) c.70+668C>T (n.70+668C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.47574020G>C | CA412822029 | SYN1 | c.1964C>G (p.Pro655Arg) c.70+668C>G (n.70+668C>G) | |
X | g.47574020G= | CA2427971156 | SYN1 | c.1964C= (p.Pro655=) c.70+668C= (n.70+668C=) | |
X | g.47574020G>T | CA412822031 | SYN1 | c.1964C>A (p.Pro655His) c.70+668C>A (n.70+668C>A) | gnomAD v4 |
X | g.47574021G>A | CA412822033 | SYN1 | c.1963C>T (p.Pro655Ser) c.70+667C>T (n.70+667C>T) | |
X | g.47574021G>C | CA412822035 | SYN1 | c.1963C>G (p.Pro655Ala) c.70+667C>G (n.70+667C>G) | |
X | g.47574021G= | CA2427971157 | SYN1 | c.1963C= (p.Pro655=) c.70+667C= (n.70+667C=) | |
X | g.47574021G>T | CA412822037 | SYN1 | c.1963C>A (p.Pro655Thr) c.70+667C>A (n.70+667C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574021_47574022delinsGT | CA2427971158 | SYN1 | c.1962_1963delinsAC (p.Gly654=) c.70+666_70+667delinsAC (n.70+666_70+667delinsAC) | |
X | g.47574022del | CA658825023 | SYN1 | c.1962del (p.Pro655LeufsTer12) c.1962del (p.Pro655LeufsTer?) c.70+666del (n.70+666del) | ClinVar dbSNP gnomAD v4 |
X | g.47574022T>A | CA516353226 | SYN1 | c.1962A>T (p.Gly654=) c.70+666A>T (n.70+666A>T) | |
X | g.47574022T>C | CA516353227 | SYN1 | c.1962A>G (p.Gly654=) c.70+666A>G (n.70+666A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574022T>G | CA516353228 | SYN1 | c.1962A>C (p.Gly654=) c.70+666A>C (n.70+666A>C) | |
X | g.47574022T= | CA2427971159 | SYN1 | c.1962A= (p.Gly654=) c.70+666A= (n.70+666A=) | |
X | g.47574023C>A | CA412822038 | SYN1 | c.1961G>T (p.Gly654Val) c.70+665G>T (n.70+665G>T) | gnomAD v4 |
X | g.47574023C= | CA2427971160 | SYN1 | c.1961G= (p.Gly654=) c.70+665G= (n.70+665G=) | |
X | g.47574023C>G | CA412822041 | SYN1 | c.1961G>C (p.Gly654Ala) c.70+665G>C (n.70+665G>C) | gnomAD v4 |
X | g.47574023C>T | CA318970 | SYN1 | c.1961G>A (p.Gly654Glu) c.70+665G>A (n.70+665G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574027dup | CA2693584579 | SYN1 | c.1961dup (p.Pro655ThrfsTer29) c.1961dup (p.Pro655ThrfsTer21) c.70+665dup (n.70+665dup) | gnomAD v4 |
X | g.47574027del | CA2693584580 | SYN1 | c.1961del (p.Gly654AspfsTer13) c.1961del (p.Gly654AspfsTer?) c.70+665del (n.70+665del) | dbSNP gnomAD v4 |
X | g.47574024C>A | CA412822044 | SYN1 | c.1960G>T (p.Gly654Ter) c.70+664G>T (n.70+664G>T) | gnomAD v4 |
X | g.47574024C>G | CA412822042 | SYN1 | c.1960G>C (p.Gly654Arg) c.70+664G>C (n.70+664G>C) | |
X | g.47574024C>T | CA412822043 | SYN1 | c.1960G>A (p.Gly654Arg) c.70+664G>A (n.70+664G>A) | gnomAD v4 |
X | g.47574025C>A | CA516353233 | SYN1 | c.1959G>T (p.Gly653=) c.70+663G>T (n.70+663G>T) | gnomAD v4 |
X | g.47574025C>G | CA516353234 | SYN1 | c.1959G>C (p.Gly653=) c.70+663G>C (n.70+663G>C) | |
X | g.47574025C>T | CA516353235 | SYN1 | c.1959G>A (p.Gly653=) c.70+663G>A (n.70+663G>A) | ClinVar dbSNP gnomAD v4 |
X | g.47574026C>A | CA412822047 | SYN1 | c.1958G>T (p.Gly653Val) c.70+662G>T (n.70+662G>T) | gnomAD v4 |
X | g.47574026C>G | CA412822050 | SYN1 | c.1958G>C (p.Gly653Ala) c.70+662G>C (n.70+662G>C) | |
X | g.47574026C>T | CA412822049 | SYN1 | c.1958G>A (p.Gly653Glu) c.70+662G>A (n.70+662G>A) | gnomAD v4 |
X | g.47574027C>A | CA412822055 | SYN1 | c.1957G>T (p.Gly653Trp) c.70+661G>T (n.70+661G>T) | gnomAD v4 |
X | g.47574027C>G | CA412822056 | SYN1 | c.1957G>C (p.Gly653Arg) c.70+661G>C (n.70+661G>C) | gnomAD v4 |
X | g.47574027C>T | CA412822057 | SYN1 | c.1957G>A (p.Gly653Arg) c.70+661G>A (n.70+661G>A) | gnomAD v4 |
X | g.47574028T>A | CA516353238 | SYN1 | c.1956A>T (p.Ala652=) c.70+660A>T (n.70+660A>T) | gnomAD v4 |
X | g.47574028T>C | CA10398342 | SYN1 | c.1956A>G (p.Ala652=) c.70+660A>G (n.70+660A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574028T>G | CA516353237 | SYN1 | c.1956A>C (p.Ala652=) c.70+660A>C (n.70+660A>C) | gnomAD v4 |
X | g.47574028T= | CA2427971161 | SYN1 | c.1956A= (p.Ala652=) c.70+660A= (n.70+660A=) | |
X | g.47574029G>A | CA412822058 | SYN1 | c.1955C>T (p.Ala652Val) c.70+659C>T (n.70+659C>T) | gnomAD v4 |
X | g.47574029G>C | CA412822059 | SYN1 | c.1955C>G (p.Ala652Gly) c.70+659C>G (n.70+659C>G) | |
X | g.47574029G>T | CA412822060 | SYN1 | c.1955C>A (p.Ala652Glu) c.70+659C>A (n.70+659C>A) | gnomAD v4 |
X | g.47574030C>A | CA412822061 | SYN1 | c.1954G>T (p.Ala652Ser) c.70+658G>T (n.70+658G>T) | gnomAD v4 |
X | g.47574030C>G | CA412822062 | SYN1 | c.1954G>C (p.Ala652Pro) c.70+658G>C (n.70+658G>C) | gnomAD v4 |
X | g.47574030C>T | CA412822063 | SYN1 | c.1954G>A (p.Ala652Thr) c.70+658G>A (n.70+658G>A) | gnomAD v4 |
X | g.47574031A= | CA2427971162 | SYN1 | c.1953T= (p.Ala651=) c.70+657T= (n.70+657T=) | |
X | g.47574031A>C | CA516353241 | SYN1 | c.1953T>G (p.Ala651=) c.70+657T>G (n.70+657T>G) | |
X | g.47574031A>G | CA516353242 | SYN1 | c.1953T>C (p.Ala651=) c.70+657T>C (n.70+657T>C) | gnomAD v4 |
X | g.47574031A>T | CA516353243 | SYN1 | c.1953T>A (p.Ala651=) c.70+657T>A (n.70+657T>A) | dbSNP |
X | g.47574032G>A | CA412822064 | SYN1 | c.1952C>T (p.Ala651Val) c.70+656C>T (n.70+656C>T) | gnomAD v4 |
X | g.47574032G>C | CA412822065 | SYN1 | c.1952C>G (p.Ala651Gly) c.70+656C>G (n.70+656C>G) | |
X | g.47574032G>T | CA412822066 | SYN1 | c.1952C>A (p.Ala651Asp) c.70+656C>A (n.70+656C>A) | gnomAD v4 |
X | g.47574033C>A | CA412822069 | SYN1 | c.1951G>T (p.Ala651Ser) c.70+655G>T (n.70+655G>T) | gnomAD v4 |
X | g.47574033C= | CA2427971163 | SYN1 | c.1951G= (p.Ala651=) c.70+655G= (n.70+655G=) | |
X | g.47574033C>G | CA412822068 | SYN1 | c.1951G>C (p.Ala651Pro) c.70+655G>C (n.70+655G>C) | gnomAD v4 |
X | g.47574033C>T | CA412822067 | SYN1 | c.1951G>A (p.Ala651Thr) c.70+655G>A (n.70+655G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574034G>A | CA516353244 | SYN1 | c.1950C>T (p.Ala650=) c.70+654C>T (n.70+654C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.47574034G>C | CA516353245 | SYN1 | c.1950C>G (p.Ala650=) c.70+654C>G (n.70+654C>G) | |
X | g.47574034G= | CA2427971164 | SYN1 | c.1950C= (p.Ala650=) c.70+654C= (n.70+654C=) | |
X | g.47574034G>T | CA516353246 | SYN1 | c.1950C>A (p.Ala650=) c.70+654C>A (n.70+654C>A) | gnomAD v4 |
X | g.47574035G>A | CA412822070 | SYN1 | c.1949C>T (p.Ala650Val) c.70+653C>T (n.70+653C>T) | gnomAD v4 |
X | g.47574035G>C | CA412822071 | SYN1 | c.1949C>G (p.Ala650Gly) c.70+653C>G (n.70+653C>G) | |
X | g.47574035G>T | CA412822072 | SYN1 | c.1949C>A (p.Ala650Asp) c.70+653C>A (n.70+653C>A) | gnomAD v4 |
X | g.47574036C>A | CA412822073 | SYN1 | c.1948G>T (p.Ala650Ser) c.70+652G>T (n.70+652G>T) | gnomAD v4 |
X | g.47574036C>G | CA412822074 | SYN1 | c.1948G>C (p.Ala650Pro) c.70+652G>C (n.70+652G>C) | |
X | g.47574036C>T | CA412822075 | SYN1 | c.1948G>A (p.Ala650Thr) c.70+652G>A (n.70+652G>A) | gnomAD v4 |
X | g.47574037G>A | CA516353248 | SYN1 | c.1947C>T (p.Thr649=) c.70+651C>T (n.70+651C>T) | gnomAD v4 |
X | g.47574037G>C | CA516353249 | SYN1 | c.1947C>G (p.Thr649=) c.70+651C>G (n.70+651C>G) | |
X | g.47574037G= | CA2427971165 | SYN1 | c.1947C= (p.Thr649=) c.70+651C= (n.70+651C=) | |
X | g.47574037G>T | CA10398343 | SYN1 | c.1947C>A (p.Thr649=) c.70+651C>A (n.70+651C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574045_47574051dup | CA2573131767 | SYN1 | c.1941_1947dup (p.Ala650ArgfsTer?) c.1941_1947dup (p.Ala650ArgfsTer28) c.70+645_70+651dup (n.70+645_70+651dup) | ClinVar dbSNP |
X | g.47574038G>A | CA412822076 | SYN1 | c.1946C>T (p.Thr649Ile) c.70+650C>T (n.70+650C>T) | ClinVar gnomAD v4 |
X | g.47574038G>C | CA412822077 | SYN1 | c.1946C>G (p.Thr649Ser) c.70+650C>G (n.70+650C>G) | gnomAD v4 |
X | g.47574038G>T | CA412822078 | SYN1 | c.1946C>A (p.Thr649Asn) c.70+650C>A (n.70+650C>A) | gnomAD v4 |
X | g.47574039T>A | CA412822079 | SYN1 | c.1945A>T (p.Thr649Ser) c.70+649A>T (n.70+649A>T) | |
X | g.47574039T>C | CA412822080 | SYN1 | c.1945A>G (p.Thr649Ala) c.70+649A>G (n.70+649A>G) | gnomAD v4 |
X | g.47574039T>G | CA412822081 | SYN1 | c.1945A>C (p.Thr649Pro) c.70+649A>C (n.70+649A>C) | |
X | g.47574040G>A | CA516353250 | SYN1 | c.1944C>T (p.Ala648=) c.70+648C>T (n.70+648C>T) | ClinVar dbSNP gnomAD v4 |
X | g.47574040G>C | CA516353251 | SYN1 | c.1944C>G (p.Ala648=) c.70+648C>G (n.70+648C>G) | |
X | g.47574040G= | CA2427971166 | SYN1 | c.1944C= (p.Ala648=) c.70+648C= (n.70+648C=) | |
X | g.47574040G>T | CA516353252 | SYN1 | c.1944C>A (p.Ala648=) c.70+648C>A (n.70+648C>A) | gnomAD v4 |
X | g.47574041G>A | CA318967 | SYN1 | c.1943C>T (p.Ala648Val) c.70+647C>T (n.70+647C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47574041G>C | CA412822083 | SYN1 | c.1943C>G (p.Ala648Gly) c.70+647C>G (n.70+647C>G) | |
X | g.47574041G= | CA2427971167 | SYN1 | c.1943C= (p.Ala648=) c.70+647C= (n.70+647C=) | |
X | g.47574041G>T | CA412822082 | SYN1 | c.1943C>A (p.Ala648Asp) c.70+647C>A (n.70+647C>A) | gnomAD v4 |
X | g.47574042C>A | CA412822084 | SYN1 | c.1942G>T (p.Ala648Ser) c.70+646G>T (n.70+646G>T) | gnomAD v4 |
X | g.47574042C>G | CA412822085 | SYN1 | c.1942G>C (p.Ala648Pro) c.70+646G>C (n.70+646G>C) | gnomAD v4 |
X | g.47574042C>T | CA412822086 | SYN1 | c.1942G>A (p.Ala648Thr) c.70+646G>A (n.70+646G>A) | gnomAD v4 COSMIC COSMIC |
X | g.47574043G>A | CA516353254 | SYN1 | c.1941C>T (p.Pro647=) c.70+645C>T (n.70+645C>T) | dbSNP gnomAD v4 |
X | g.47574043G>C | CA516353255 | SYN1 | c.1941C>G (p.Pro647=) c.70+645C>G (n.70+645C>G) | gnomAD v4 |
X | g.47574043G= | CA2427971168 | SYN1 | c.1941C= (p.Pro647=) c.70+645C= (n.70+645C=) | |
X | g.47574043G>T | CA516353256 | SYN1 | c.1941C>A (p.Pro647=) c.70+645C>A (n.70+645C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574045del | CA2693584581 | SYN1 | c.1941del (p.Ala648ProfsTer19) c.1941del (p.Ala648ProfsTer?) c.70+645del (n.70+645del) | gnomAD v4 |
X | g.47574044G>A | CA412822087 | SYN1 | c.1940C>T (p.Pro647Leu) c.70+644C>T (n.70+644C>T) | gnomAD v4 |
X | g.47574044G>C | CA412822088 | SYN1 | c.1940C>G (p.Pro647Arg) c.70+644C>G (n.70+644C>G) | |
X | g.47574044G>T | CA412822089 | SYN1 | c.1940C>A (p.Pro647His) c.70+644C>A (n.70+644C>A) | gnomAD v4 |
X | g.47574045G>A | CA412822090 | SYN1 | c.1939C>T (p.Pro647Ser) c.70+643C>T (n.70+643C>T) | gnomAD v4 |
X | g.47574045G>C | CA412822091 | SYN1 | c.1939C>G (p.Pro647Ala) c.70+643C>G (n.70+643C>G) | |
X | g.47574045G>T | CA412822092 | SYN1 | c.1939C>A (p.Pro647Thr) c.70+643C>A (n.70+643C>A) | gnomAD v4 |
X | g.47574046T>A | CA516353258 | SYN1 | c.1938A>T (p.Pro646=) c.70+642A>T (n.70+642A>T) | |
X | g.47574046T>C | CA516353259 | SYN1 | c.1938A>G (p.Pro646=) c.70+642A>G (n.70+642A>G) | gnomAD v4 |
X | g.47574046T>G | CA516353260 | SYN1 | c.1938A>C (p.Pro646=) c.70+642A>C (n.70+642A>C) | dbSNP gnomAD v4 |
X | g.47574046T= | CA2427971169 | SYN1 | c.1938A= (p.Pro646=) c.70+642A= (n.70+642A=) | |
X | g.47574047G>A | CA412822093 | SYN1 | c.1937C>T (p.Pro646Leu) c.70+641C>T (n.70+641C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574047G>C | CA412822094 | SYN1 | c.1937C>G (p.Pro646Arg) c.70+641C>G (n.70+641C>G) | |
X | g.47574047G= | CA2427971170 | SYN1 | c.1937C= (p.Pro646=) c.70+641C= (n.70+641C=) | |
X | g.47574047G>T | CA412822095 | SYN1 | c.1937C>A (p.Pro646Gln) c.70+641C>A (n.70+641C>A) | gnomAD v4 |
X | g.47574048G>A | CA412822098 | SYN1 | c.1936C>T (p.Pro646Ser) c.70+640C>T (n.70+640C>T) | gnomAD v4 |
X | g.47574048G>C | CA412822096 | SYN1 | c.1936C>G (p.Pro646Ala) c.70+640C>G (n.70+640C>G) | |
X | g.47574048G>T | CA412822097 | SYN1 | c.1936C>A (p.Pro646Thr) c.70+640C>A (n.70+640C>A) | gnomAD v4 |
X | g.47574049C>A | CA516353264 | SYN1 | c.1935G>T (p.Pro645=) c.70+639G>T (n.70+639G>T) | gnomAD v4 |
X | g.47574049C= | CA2427971171 | SYN1 | c.1935G= (p.Pro645=) c.70+639G= (n.70+639G=) | |
X | g.47574049C>G | CA516353263 | SYN1 | c.1935G>C (p.Pro645=) c.70+639G>C (n.70+639G>C) | |
X | g.47574049C>T | CA516353262 | SYN1 | c.1935G>A (p.Pro645=) c.70+639G>A (n.70+639G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574050G>A | CA412822099 | SYN1 | c.1934C>T (p.Pro645Leu) c.70+638C>T (n.70+638C>T) | gnomAD v4 COSMIC COSMIC |
X | g.47574050G>C | CA329057178 | SYN1 | c.1934C>G (p.Pro645Arg) c.70+638C>G (n.70+638C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574050G= | CA2427971172 | SYN1 | c.1934C= (p.Pro645=) c.70+638C= (n.70+638C=) | |
X | g.47574050G>T | CA412822100 | SYN1 | c.1934C>A (p.Pro645Gln) c.70+638C>A (n.70+638C>A) | gnomAD v4 |
X | g.47574051G>A | CA412822101 | SYN1 | c.1933C>T (p.Pro645Ser) c.70+637C>T (n.70+637C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47574051G>C | CA412822102 | SYN1 | c.1933C>G (p.Pro645Ala) c.70+637C>G (n.70+637C>G) | |
X | g.47574051G= | CA2427971173 | SYN1 | c.1933C= (p.Pro645=) c.70+637C= (n.70+637C=) | |
X | g.47574051G>T | CA412822103 | SYN1 | c.1933C>A (p.Pro645Thr) c.70+637C>A (n.70+637C>A) | gnomAD v4 |
X | g.47574052C>A | CA516353265 | SYN1 | c.1932G>T (p.Val644=) c.70+636G>T (n.70+636G>T) | gnomAD v4 |
X | g.47574052C>G | CA516353267 | SYN1 | c.1932G>C (p.Val644=) c.70+636G>C (n.70+636G>C) | gnomAD v4 |
X | g.47574052C>T | CA516353268 | SYN1 | c.1932G>A (p.Val644=) c.70+636G>A (n.70+636G>A) | gnomAD v4 |
X | g.47574053A>C | CA412822104 | SYN1 | c.1931T>G (p.Val644Gly) c.70+635T>G (n.70+635T>G) | |
X | g.47574053A>G | CA412822105 | SYN1 | c.1931T>C (p.Val644Ala) c.70+635T>C (n.70+635T>C) | |
X | g.47574053A>T | CA412822106 | SYN1 | c.1931T>A (p.Val644Glu) c.70+635T>A (n.70+635T>A) | |
X | g.47574054C>A | CA412822107 | SYN1 | c.1930G>T (p.Val644Leu) c.70+634G>T (n.70+634G>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47574054C= | CA2427971174 | SYN1 | c.1930G= (p.Val644=) c.70+634G= (n.70+634G=) | |
X | g.47574054C>G | CA412822108 | SYN1 | c.1930G>C (p.Val644Leu) c.70+634G>C (n.70+634G>C) | |
X | g.47574054C>T | CA412822109 | SYN1 | c.1930G>A (p.Val644Met) c.70+634G>A (n.70+634G>A) | ClinVar gnomAD v4 |
X | g.47574055G>A | CA516353269 | SYN1 | c.1929C>T (p.Asp643=) c.70+633C>T (n.70+633C>T) | gnomAD v4 |
X | g.47574055G>C | CA412822110 | SYN1 | c.1929C>G (p.Asp643Glu) c.70+633C>G (n.70+633C>G) | |
X | g.47574055G>T | CA412822111 | SYN1 | c.1929C>A (p.Asp643Glu) c.70+633C>A (n.70+633C>A) | gnomAD v4 |
X | g.47574056T>A | CA412822112 | SYN1 | c.1928A>T (p.Asp643Val) c.70+632A>T (n.70+632A>T) | |
X | g.47574056T>C | CA412822113 | SYN1 | c.1928A>G (p.Asp643Gly) c.70+632A>G (n.70+632A>G) | gnomAD v4 |
X | g.47574056T>G | CA412822114 | SYN1 | c.1928A>C (p.Asp643Ala) c.70+632A>C (n.70+632A>C) | |
X | g.47574057C>A | CA412822115 | SYN1 | c.1927G>T (p.Asp643Tyr) c.70+631G>T (n.70+631G>T) | gnomAD v4 |
X | g.47574057C>G | CA412822116 | SYN1 | c.1927G>C (p.Asp643His) c.70+631G>C (n.70+631G>C) | |
X | g.47574057C>T | CA412822117 | SYN1 | c.1927G>A (p.Asp643Asn) c.70+631G>A (n.70+631G>A) | gnomAD v4 |
X | g.47574058C>A | CA412822118 | SYN1 | c.1926G>T (p.Gln642His) c.70+630G>T (n.70+630G>T) | gnomAD v4 |
X | g.47574058C>G | CA412822119 | SYN1 | c.1926G>C (p.Gln642His) c.70+630G>C (n.70+630G>C) | gnomAD v4 |
X | g.47574058C>T | CA516353273 | SYN1 | c.1926G>A (p.Gln642=) c.70+630G>A (n.70+630G>A) | dbSNP |
X | g.47574059T>A | CA412822120 | SYN1 | c.1925A>T (p.Gln642Leu) c.70+629A>T (n.70+629A>T) | gnomAD v4 |
X | g.47574059T>C | CA10398344 | SYN1 | c.1925A>G (p.Gln642Arg) c.70+629A>G (n.70+629A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47574059T>G | CA412822123 | SYN1 | c.1925A>C (p.Gln642Pro) c.70+629A>C (n.70+629A>C) | |
X | g.47574059T= | CA2427971175 | SYN1 | c.1925A= (p.Gln642=) c.70+629A= (n.70+629A=) | |
X | g.47574060G>A | CA412822125 | SYN1 | c.1924C>T (p.Gln642Ter) c.70+628C>T (n.70+628C>T) | gnomAD v4 |
X | g.47574060G>C | CA412822126 | SYN1 | c.1924C>G (p.Gln642Glu) c.70+628C>G (n.70+628C>G) | |
X | g.47574060G>T | CA412822129 | SYN1 | c.1924C>A (p.Gln642Lys) c.70+628C>A (n.70+628C>A) | gnomAD v4 |
X | g.47574061G>A | CA516353274 | SYN1 | c.1923C>T (p.Ser641=) c.70+627C>T (n.70+627C>T) | gnomAD v4 |
X | g.47574061G>C | CA412822132 | SYN1 | c.1923C>G (p.Ser641Arg) c.70+627C>G (n.70+627C>G) | |
X | g.47574061G>T | CA412822131 | SYN1 | c.1923C>A (p.Ser641Arg) c.70+627C>A (n.70+627C>A) | gnomAD v4 |
X | g.47574062C>A | CA412822134 | SYN1 | c.1922G>T (p.Ser641Ile) c.70+626G>T (n.70+626G>T) | gnomAD v4 |
X | g.47574062C>G | CA412822135 | SYN1 | c.1922G>C (p.Ser641Thr) c.70+626G>C (n.70+626G>C) | |
X | g.47574062C>T | CA412822137 | SYN1 | c.1922G>A (p.Ser641Asn) c.70+626G>A (n.70+626G>A) | gnomAD v4 |
X | g.47574063T>A | CA412822139 | SYN1 | c.1921A>T (p.Ser641Cys) c.70+625A>T (n.70+625A>T) | |
X | g.47574063T>C | CA412822141 | SYN1 | c.1921A>G (p.Ser641Gly) c.70+625A>G (n.70+625A>G) | gnomAD v4 |
X | g.47574063T>G | CA412822143 | SYN1 | c.1921A>C (p.Ser641Arg) c.70+625A>C (n.70+625A>C) | |
X | g.47574064G>A | CA516353275 | SYN1 | c.1920C>T (p.Pro640=) c.70+624C>T (n.70+624C>T) | gnomAD v4 |
X | g.47574064G>C | CA516353276 | SYN1 | c.1920C>G (p.Pro640=) c.70+624C>G (n.70+624C>G) | |
X | g.47574064G>T | CA516353277 | SYN1 | c.1920C>A (p.Pro640=) c.70+624C>A (n.70+624C>A) | gnomAD v4 |
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 |