Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.47573981_47573987delinsCTGCTGT | CA2427971137 | SYN1 | c.1982+15_1982+21delinsACAGCAG (n.1982+15_1982+21delinsACAGCAG) c.70+701_70+707delinsACAGCAG (n.70+701_70+707delinsACAGCAG) | |
X | g.47573981_47573993delinsCTGCTGTAGGGGT | CA2427971138 | SYN1 | c.1982+9_1982+21delinsACCCCTACAGCAG (n.1982+9_1982+21delinsACCCCTACAGCAG) c.70+695_70+707delinsACCCCTACAGCAG (n.70+695_70+707delinsACCCCTACAGCAG) | |
X | g.47573982_47573987del | CA641900857 | SYN1 | c.1982+15_1982+20del (n.1982+15_1982+20del) c.70+701_70+706del (n.70+701_70+706del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47573982_47573993del | CA875819030 | SYN1 | c.1982+9_1982+20del (n.1982+9_1982+20del) c.70+695_70+706del (n.70+695_70+706del) | ClinVar dbSNP |
X | g.47573982_47573994delinsA | CA2740092150 | SYN1 | c.1982+8_1982+20delinsT (n.1982+8_1982+20delinsT) c.70+694_70+706delinsT (n.70+694_70+706delinsT) | ClinVar |
X | g.47573986G>A | CA641900858 | SYN1 | c.1982+16C>T (n.1982+16C>T) c.70+702C>T (n.70+702C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47573986G>C | CA2693584457 | SYN1 | c.1982+16C>G (n.1982+16C>G) c.70+702C>G (n.70+702C>G) | gnomAD v4 |
X | g.47573986G= | CA2427971139 | SYN1 | c.1982+16C= (n.1982+16C=) c.70+702C= (n.70+702C=) | |
X | g.47573986G>T | CA2693584459 | SYN1 | c.1982+16C>A (n.1982+16C>A) c.70+702C>A (n.70+702C>A) | gnomAD v4 |
X | g.47573987T>C | CA641900859 | SYN1 | c.1982+15A>G (n.1982+15A>G) c.70+701A>G (n.70+701A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47573987T= | CA2427971140 | SYN1 | c.1982+15A= (n.1982+15A=) c.70+701A= (n.70+701A=) | |
X | g.47573987_47573988delinsTA | CA2427971141 | SYN1 | c.1982+14_1982+15delinsTA (n.1982+14_1982+15delinsTA) c.70+700_70+701delinsTA (n.70+700_70+701delinsTA) | |
X | g.47573988del | CA2427971142 | SYN1 | c.1982+14del (n.1982+14del) c.70+700del (n.70+700del) | dbSNP |
X | g.47573988A>G | CA2693584465 | SYN1 | c.1982+14T>C (n.1982+14T>C) c.70+700T>C (n.70+700T>C) | gnomAD v4 |
X | g.47573988A>T | CA2693584467 | SYN1 | c.1982+14T>A (n.1982+14T>A) c.70+700T>A (n.70+700T>A) | gnomAD v4 |
X | g.47573988_47573994delinsAGGGGTC | CA2427971143 | SYN1 | c.1982+8_1982+14delinsGACCCCT (n.1982+8_1982+14delinsGACCCCT) c.70+694_70+700delinsGACCCCT (n.70+694_70+700delinsGACCCCT) | |
X | g.47573989G>A | CA2693584469 | SYN1 | c.1982+13C>T (n.1982+13C>T) c.70+699C>T (n.70+699C>T) | gnomAD v4 |
X | g.47573989G>T | CA2693584470 | SYN1 | c.1982+13C>A (n.1982+13C>A) c.70+699C>A (n.70+699C>A) | gnomAD v4 |
X | g.47573989_47573994del | CA641900860 | SYN1 | c.1982+8_1982+13del (n.1982+8_1982+13del) c.70+694_70+699del (n.70+694_70+699del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.47573990G>A | CA2693584472 | SYN1 | c.1982+12C>T (n.1982+12C>T) c.70+698C>T (n.70+698C>T) | gnomAD v4 |
X | g.47573990G>C | CA875819042 | SYN1 | c.1982+12C>G (n.1982+12C>G) c.70+698C>G (n.70+698C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47573990G= | CA2427971144 | SYN1 | c.1982+12C= (n.1982+12C=) c.70+698C= (n.70+698C=) | |
X | g.47573990G>T | CA2693584474 | SYN1 | c.1982+12C>A (n.1982+12C>A) c.70+698C>A (n.70+698C>A) | gnomAD v4 |
X | g.47573991G>A | CA2693584475 | SYN1 | c.1982+11C>T (n.1982+11C>T) c.70+697C>T (n.70+697C>T) | gnomAD v4 |
X | g.47573991G>C | CA2693584476 | SYN1 | c.1982+11C>G (n.1982+11C>G) c.70+697C>G (n.70+697C>G) | gnomAD v4 |
X | g.47573991G>T | CA2693584478 | SYN1 | c.1982+11C>A (n.1982+11C>A) c.70+697C>A (n.70+697C>A) | gnomAD v4 |
X | g.47573992G>A | CA2693584485 | SYN1 | c.1982+10C>T (n.1982+10C>T) c.70+696C>T (n.70+696C>T) | gnomAD v4 |
X | g.47573992G= | CA2427971145 | SYN1 | c.1982+10C= (n.1982+10C=) c.70+696C= (n.70+696C=) | |
X | g.47573992G>T | CA10398339 | SYN1 | c.1982+10C>A (n.1982+10C>A) c.70+696C>A (n.70+696C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.47573993T>C | CA641900861 | SYN1 | c.1982+9A>G (n.1982+9A>G) c.70+695A>G (n.70+695A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.47573993T= | CA2427971146 | SYN1 | c.1982+9A= (n.1982+9A=) c.70+695A= (n.70+695A=) | |
X | g.47573994C>A | CA329057132 | SYN1 | c.1982+8G>T (n.1982+8G>T) c.70+694G>T (n.70+694G>T) | dbSNP gnomAD v4 |
X | g.47573994C= | CA2427971147 | SYN1 | c.1982+8G= (n.1982+8G=) c.70+694G= (n.70+694G=) | |
X | g.47573994C>T | CA875819059 | SYN1 | c.1982+8G>A (n.1982+8G>A) c.70+694G>A (n.70+694G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.47573997dup | CA2693584492 | SYN1 | c.1982+8dup (n.1982+8dup) c.70+694dup (n.70+694dup) | gnomAD v4 |
X | g.47573997del | CA2693584494 | SYN1 | c.1982+8del (n.1982+8del) c.70+694del (n.70+694del) | gnomAD v4 |
X | g.47573995C>A | CA2693584500 | SYN1 | c.1982+7G>T (n.1982+7G>T) c.70+693G>T (n.70+693G>T) | gnomAD v4 |
X | g.47573996C>A | CA2693584501 | SYN1 | c.1982+6G>T (n.1982+6G>T) c.70+692G>T (n.70+692G>T) | gnomAD v4 |
X | g.47573996C>T | CA2693584502 | SYN1 | c.1982+6G>A (n.1982+6G>A) c.70+692G>A (n.70+692G>A) | gnomAD v4 |
X | g.47573997C>A | CA2693584504 | SYN1 | c.1982+5G>T (n.1982+5G>T) c.70+691G>T (n.70+691G>T) | gnomAD v4 |
X | g.47573997C>G | CA2693584505 | SYN1 | c.1982+5G>C (n.1982+5G>C) c.70+691G>C (n.70+691G>C) | gnomAD v4 |
X | g.47573997C>T | CA2693584506 | SYN1 | c.1982+5G>A (n.1982+5G>A) c.70+691G>A (n.70+691G>A) | gnomAD v4 |
X | g.47573998T>A | CA2693584508 | SYN1 | c.1982+4A>T (n.1982+4A>T) c.70+690A>T (n.70+690A>T) | gnomAD v4 |
X | g.47573998T>C | CA2693584509 | SYN1 | c.1982+4A>G (n.1982+4A>G) c.70+690A>G (n.70+690A>G) | gnomAD v4 |
X | g.47574000A>C | CA412821941 | SYN1 | c.1982+2T>G (n.1982+2T>G) c.70+688T>G (n.70+688T>G) | |
X | g.47574000A>G | CA412821944 | SYN1 | c.1982+2T>C (n.1982+2T>C) c.70+688T>C (n.70+688T>C) | gnomAD v4 |
X | g.47574000A>T | CA412821946 | SYN1 | c.1982+2T>A (n.1982+2T>A) c.70+688T>A (n.70+688T>A) | |
X | g.47574001C>A | CA412821952 | SYN1 | c.1982+1G>T (n.1982+1G>T) c.70+687G>T (n.70+687G>T) | gnomAD v4 |
X | g.47574001C>G | CA412821950 | SYN1 | c.1982+1G>C (n.1982+1G>C) c.70+687G>C (n.70+687G>C) | |
X | g.47574001C>T | CA412821949 | SYN1 | c.1982+1G>A (n.1982+1G>A) c.70+687G>A (n.70+687G>A) | |
X | g.47574002T>A | CA412821953 | SYN1 | c.1982A>T (p.Asn661Ile) c.1982A>T (p.Lys661Ile) c.70+686A>T (n.70+686A>T) | |
X | g.47574002T>C | CA412821954 | SYN1 | c.1982A>G (p.Asn661Ser) c.1982A>G (p.Lys661Arg) c.70+686A>G (n.70+686A>G) | gnomAD v4 |
X | g.47574002T>G | CA412821956 | SYN1 | c.1982A>C (p.Asn661Thr) c.1982A>C (p.Lys661Thr) c.70+686A>C (n.70+686A>C) | |
X | g.47574003T>A | CA412821958 | SYN1 | c.1981A>T (p.Asn661Tyr) c.1981A>T (p.Lys661Ter) c.70+685A>T (n.70+685A>T) | gnomAD v4 |
X | g.47574003T>C | CA412821959 | SYN1 | c.1981A>G (p.Asn661Asp) c.1981A>G (p.Lys661Glu) c.70+685A>G (n.70+685A>G) | gnomAD v4 |
X | g.47574003T>G | CA412821960 | SYN1 | c.1981A>C (p.Asn661His) c.1981A>C (p.Lys661Gln) c.70+685A>C (n.70+685A>C) | |
X | g.47574004G>A | CA516353209 | SYN1 | c.1980C>T (p.Leu660=) c.70+684C>T (n.70+684C>T) | gnomAD v4 COSMIC COSMIC |
X | g.47574004G>C | CA516353210 | SYN1 | c.1980C>G (p.Leu660=) c.70+684C>G (n.70+684C>G) | |
X | g.47574004G>T | CA516353211 | SYN1 | c.1980C>A (p.Leu660=) c.70+684C>A (n.70+684C>A) | gnomAD v4 |
X | g.47574005A>C | CA412821962 | SYN1 | c.1979T>G (p.Leu660Arg) c.70+683T>G (n.70+683T>G) | |
X | g.47574005A>G | CA412821966 | SYN1 | c.1979T>C (p.Leu660Pro) c.70+683T>C (n.70+683T>C) | gnomAD v4 |
X | g.47574005A>T | CA412821964 | SYN1 | c.1979T>A (p.Leu660His) c.70+683T>A (n.70+683T>A) | |
X | g.47574006G>A | CA412821968 | SYN1 | c.1978C>T (p.Leu660Phe) c.70+682C>T (n.70+682C>T) | gnomAD v4 |
X | g.47574006G>C | CA412821970 | SYN1 | c.1978C>G (p.Leu660Val) c.70+682C>G (n.70+682C>G) | |
X | g.47574006G>T | CA412821972 | SYN1 | c.1978C>A (p.Leu660Ile) c.70+682C>A (n.70+682C>A) | gnomAD v4 |
X | g.47574007C>A | CA412821974 | SYN1 | c.1977G>T (p.Gln659His) c.70+681G>T (n.70+681G>T) | gnomAD v4 |
X | g.47574007C>G | CA412821976 | SYN1 | c.1977G>C (p.Gln659His) c.70+681G>C (n.70+681G>C) | |
X | g.47574007C>T | CA516353212 | SYN1 | c.1977G>A (p.Gln659=) c.70+681G>A (n.70+681G>A) | gnomAD v4 |
X | g.47574008T>A | CA412821978 | SYN1 | c.1976A>T (p.Gln659Leu) c.70+680A>T (n.70+680A>T) | gnomAD v4 |
X | g.47574008T>C | CA412821979 | SYN1 | c.1976A>G (p.Gln659Arg) c.70+680A>G (n.70+680A>G) | ClinVar gnomAD v4 |
X | g.47574008T>G | CA412821981 | SYN1 | c.1976A>C (p.Gln659Pro) c.70+680A>C (n.70+680A>C) | |
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=) |