Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.38499941G>A | CA507353725 | RYR1 | c.7248G>A (p.Val2416=) c.7245G>A (p.Val2415=) c.700G>A n.7331G>A | gnomAD v4 |
19 | g.38499941G>C | CA507353726 | RYR1 | c.7248G>C (p.Val2416=) c.7245G>C (p.Val2415=) c.700G>C n.7331G>C | |
19 | g.38499941G>T | CA507353727 | RYR1 | c.7248G>T (p.Val2416=) c.7245G>T (p.Val2415=) c.700G>T n.7331G>T | |
19 | g.38499942C>A | CA405669227 | RYR1 | c.7249C>A (p.His2417Asn) c.7246C>A (p.His2416Asn) c.701C>A n.7332C>A | |
19 | g.38499942C>G | CA405669223 | RYR1 | c.7249C>G (p.His2417Asp) c.7246C>G (p.His2416Asp) c.701C>G n.7332C>G | |
19 | g.38499942C>T | CA405669224 | RYR1 | c.7249C>T (p.His2417Tyr) c.7246C>T (p.His2416Tyr) c.701C>T n.7332C>T | |
19 | g.38499943A>C | CA405669239 | RYR1 | c.7250A>C (p.His2417Pro) c.7247A>C (p.His2416Pro) c.702A>C n.7333A>C | |
19 | g.38499943A>G | CA405669241 | RYR1 | c.7250A>G (p.His2417Arg) c.7247A>G (p.His2416Arg) c.702A>G n.7333A>G | COSMIC |
19 | g.38499943A>T | CA405669244 | RYR1 | c.7250A>T (p.His2417Leu) c.7247A>T (p.His2416Leu) c.702A>T n.7333A>T | |
19 | g.38499944C>A | CA308109782 | RYR1 | c.7251C>A (p.His2417Gln) c.7248C>A (p.His2416Gln) c.703C>A n.7334C>A | dbSNP gnomAD v4 |
19 | g.38499944C= | CA2335053021 | RYR1 | c.7251C= (p.His2417=) c.7248C= (p.His2416=) c.703C= n.7334C= | |
19 | g.38499944C>G | CA405669252 | RYR1 | c.7251C>G (p.His2417Gln) c.7248C>G (p.His2416Gln) c.703C>G n.7334C>G | |
19 | g.38499944C>T | CA507353728 | RYR1 | c.7251C>T (p.His2417=) c.7248C>T (p.His2416=) c.703C>T n.7334C>T | dbSNP gnomAD v4 |
19 | g.38499945C>A | CA405669255 | RYR1 | c.7252C>A (p.Leu2418Met) c.7249C>A (p.Leu2417Met) c.704C>A n.7335C>A | |
19 | g.38499945C= | CA2335053022 | RYR1 | c.7252C= (p.Leu2418=) c.7249C= (p.Leu2417=) c.704C= n.7335C= | |
19 | g.38499945C>G | CA405669256 | RYR1 | c.7252C>G (p.Leu2418Val) c.7249C>G (p.Leu2417Val) c.704C>G n.7335C>G | ClinVar dbSNP |
19 | g.38499945C>T | CA069367 | RYR1 | c.7252C>T (p.Leu2418=) c.7249C>T (p.Leu2417=) c.704C>T n.7335C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499946T>A | CA405669262 | RYR1 | c.7253T>A (p.Leu2418Gln) c.7250T>A (p.Leu2417Gln) c.705T>A n.7336T>A | |
19 | g.38499946T>C | CA069388 | RYR1 | c.7253T>C (p.Leu2418Pro) c.7250T>C (p.Leu2417Pro) c.705T>C n.7336T>C | dbSNP ExAC gnomAD v4 |
19 | g.38499946T>G | CA405669265 | RYR1 | c.7253T>G (p.Leu2418Arg) c.7250T>G (p.Leu2417Arg) c.705T>G n.7336T>G | |
19 | g.38499946T= | CA2335053023 | RYR1 | c.7253T= (p.Leu2418=) c.7250T= (p.Leu2417=) c.705T= n.7336T= | |
19 | g.38499947G>A | CA082375 | RYR1 | c.7254G>A (p.Leu2418=) c.7251G>A (p.Leu2417=) c.706G>A n.7337G>A | |
19 | g.38499947G>C | CA082376 | RYR1 | c.7254G>C (p.Leu2418=) c.7251G>C (p.Leu2417=) c.706G>C n.7337G>C | |
19 | g.38499947G= | CA2335053024 | RYR1 | c.7254G= (p.Leu2418=) c.7251G= (p.Leu2417=) c.706G= n.7337G= | |
19 | g.38499947G>T | CA507353731 | RYR1 | c.7254G>T (p.Leu2418=) c.7251G>T (p.Leu2417=) c.706G>T n.7337G>T | dbSNP |
19 | g.38499948G>A | CA405669273 | RYR1 | c.7255G>A (p.Gly2419Arg) c.7252G>A (p.Gly2418Arg) c.707G>A n.7338G>A | |
19 | g.38499948G>C | CA405669270 | RYR1 | c.7255G>C (p.Gly2419Arg) c.7252G>C (p.Gly2418Arg) c.707G>C n.7338G>C | |
19 | g.38499948G>T | CA405669268 | RYR1 | c.7255G>T (p.Gly2419Ter) c.7252G>T (p.Gly2418Ter) c.707G>T n.7338G>T | COSMIC |
19 | g.38499949G>A | CA308109784 | RYR1 | c.7256G>A (p.Gly2419Glu) c.7253G>A (p.Gly2418Glu) c.708G>A n.7339G>A | dbSNP |
19 | g.38499949G>C | CA405669277 | RYR1 | c.7256G>C (p.Gly2419Ala) c.7253G>C (p.Gly2418Ala) c.708G>C n.7339G>C | |
19 | g.38499949G= | CA2335053025 | RYR1 | c.7256G= (p.Gly2419=) c.7253G= (p.Gly2418=) c.708G= n.7339G= | |
19 | g.38499949G>T | CA405669276 | RYR1 | c.7256G>T (p.Gly2419Val) c.7253G>T (p.Gly2418Val) c.708G>T n.7339G>T | |
19 | g.38499950A>C | CA507353735 | RYR1 | c.7257A>C (p.Gly2419=) c.7254A>C (p.Gly2418=) c.709A>C n.7340A>C | |
19 | g.38499950A>G | CA507353736 | RYR1 | c.7257A>G (p.Gly2419=) c.7254A>G (p.Gly2418=) c.709A>G n.7340A>G | |
19 | g.38499950A>T | CA507353737 | RYR1 | c.7257A>T (p.Gly2419=) c.7254A>T (p.Gly2418=) c.709A>T n.7340A>T | |
19 | g.38499951C>A | CA405669291 | RYR1 | c.7258C>A (p.His2420Asn) c.7255C>A (p.His2419Asn) c.710C>A n.7341C>A | COSMIC |
19 | g.38499951C>G | CA405669297 | RYR1 | c.7258C>G (p.His2420Asp) c.7255C>G (p.His2419Asp) c.710C>G n.7341C>G | |
19 | g.38499951C>T | CA405669293 | RYR1 | c.7258C>T (p.His2420Tyr) c.7255C>T (p.His2419Tyr) c.710C>T n.7341C>T | |
19 | g.38499952A= | CA2335053026 | RYR1 | c.7259A= (p.His2420=) c.7256A= (p.His2419=) c.711A= n.7342A= | |
19 | g.38499952A>C | CA405669301 | RYR1 | c.7259A>C (p.His2420Pro) c.7256A>C (p.His2419Pro) c.711A>C n.7342A>C | |
19 | g.38499952A>G | CA405669307 | RYR1 | c.7259A>G (p.His2420Arg) c.7256A>G (p.His2419Arg) c.711A>G n.7342A>G | |
19 | g.38499952A>T | CA405669305 | RYR1 | c.7259A>T (p.His2420Leu) c.7256A>T (p.His2419Leu) c.711A>T n.7342A>T | dbSNP |
19 | g.38499953C>A | CA405669308 | RYR1 | c.7260C>A (p.His2420Gln) c.7257C>A (p.His2419Gln) c.712C>A n.7343C>A | |
19 | g.38499953C= | CA2335053027 | RYR1 | c.7260C= (p.His2420=) c.7257C= (p.His2419=) c.712C= n.7343C= | |
19 | g.38499953C>G | CA405669314 | RYR1 | c.7260C>G (p.His2420Gln) c.7257C>G (p.His2419Gln) c.712C>G n.7343C>G | |
19 | g.38499953C>T | CA024725 | RYR1 | c.7260C>T (p.His2420=) c.7257C>T (p.His2419=) c.712C>T n.7343C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499954G>A | CA069410 | RYR1 | c.7261G>A (p.Ala2421Thr) c.7258G>A (p.Ala2420Thr) c.713G>A n.7344G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499954G>C | CA024730 | RYR1 | c.7261G>C (p.Ala2421Pro) c.7258G>C (p.Ala2420Pro) c.713G>C n.7344G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499954G= | CA2335053028 | RYR1 | c.7261G= (p.Ala2421=) c.7258G= (p.Ala2420=) c.713G= n.7344G= | |
19 | g.38499954G>T | CA069413 | RYR1 | c.7261G>T (p.Ala2421Ser) c.7258G>T (p.Ala2420Ser) c.713G>T n.7344G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499955C>A | CA405669322 | RYR1 | c.7262C>A (p.Ala2421Asp) c.7259C>A (p.Ala2420Asp) c.714C>A n.7345C>A | |
19 | g.38499955C>G | CA405669324 | RYR1 | c.7262C>G (p.Ala2421Gly) c.7259C>G (p.Ala2420Gly) c.714C>G n.7345C>G | |
19 | g.38499955C>T | CA405669327 | RYR1 | c.7262C>T (p.Ala2421Val) c.7259C>T (p.Ala2420Val) c.714C>T n.7345C>T | |
19 | g.38499955_38499956insGAT | CA2584900090 | RYR1 | c.7262_7263insGAT (p.Ala2421_Ile2422insIle) c.7259_7260insGAT (p.Ala2420_Ile2421insIle) c.714_715insGAT n.7345_7346insGAT | gnomAD v4 |
19 | g.38499956C>A | CA507353744 | RYR1 | c.7263C>A (p.Ala2421=) c.7260C>A (p.Ala2420=) c.715C>A n.7346C>A | |
19 | g.38499956C>G | CA507353745 | RYR1 | c.7263C>G (p.Ala2421=) c.7260C>G (p.Ala2420=) c.715C>G n.7346C>G | |
19 | g.38499956C>T | CA082388 | RYR1 | c.7263C>T (p.Ala2421=) c.7260C>T (p.Ala2420=) c.715C>T n.7346C>T | |
19 | g.38499957A= | CA2335053029 | RYR1 | c.7264A= (p.Ile2422=) c.7261A= (p.Ile2421=) c.716A= n.7347A= | |
19 | g.38499957A>C | CA405669330 | RYR1 | c.7264A>C (p.Ile2422Leu) c.7261A>C (p.Ile2421Leu) c.716A>C n.7347A>C | |
19 | g.38499957A>G | CA069434 | RYR1 | c.7264A>G (p.Ile2422Val) c.7261A>G (p.Ile2421Val) c.716A>G n.7347A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499957A>T | CA405669334 | RYR1 | c.7264A>T (p.Ile2422Phe) c.7261A>T (p.Ile2421Phe) c.716A>T n.7347A>T | |
19 | g.38499958T>A | CA405669337 | RYR1 | c.7265T>A (p.Ile2422Asn) c.7262T>A (p.Ile2421Asn) c.717T>A n.7348T>A | |
19 | g.38499958T>C | CA405669341 | RYR1 | c.7265T>C (p.Ile2422Thr) c.7262T>C (p.Ile2421Thr) c.717T>C n.7348T>C | dbSNP |
19 | g.38499958T>G | CA405669344 | RYR1 | c.7265T>G (p.Ile2422Ser) c.7262T>G (p.Ile2421Ser) c.717T>G n.7348T>G | |
19 | g.38499958T= | CA2335053030 | RYR1 | c.7265T= (p.Ile2422=) c.7262T= (p.Ile2421=) c.717T= n.7348T= | |
19 | g.38499958_38499959insGTCCTTCTATGCCGC | CA2584900091 | RYR1 | c.7265_7266insGTCCTTCTATGCCGC (p.Ile2422delinsMetSerPheTyrAlaAla) c.7262_7263insGTCCTTCTATGCCGC (p.Ile2421delinsMetSerPheTyrAlaAla) c.717_718insGTCCTTCTATGCCGC n.7348_7349insGTCCTTCTATGCCGC | gnomAD v4 |
19 | g.38499959C>A | CA507353747 | RYR1 | c.7266C>A (p.Ile2422=) c.7263C>A (p.Ile2421=) c.718C>A n.7349C>A | |
19 | g.38499959C>G | CA405669347 | RYR1 | c.7266C>G (p.Ile2422Met) c.7263C>G (p.Ile2421Met) c.718C>G n.7349C>G | |
19 | g.38499959C>T | CA507353748 | RYR1 | c.7266C>T (p.Ile2422=) c.7263C>T (p.Ile2421=) c.718C>T n.7349C>T | |
19 | g.38499960A>C | CA405669353 | RYR1 | c.7267A>C (p.Met2423Leu) c.7264A>C (p.Met2422Leu) c.719A>C n.7350A>C | |
19 | g.38499960A>G | CA082391 | RYR1 | c.7267A>G (p.Met2423Val) c.7264A>G (p.Met2422Val) c.719A>G n.7350A>G | gnomAD v4 |
19 | g.38499960A>T | CA405669350 | RYR1 | c.7267A>T (p.Met2423Leu) c.7264A>T (p.Met2422Leu) c.719A>T n.7350A>T | |
19 | g.38499961T>A | CA024732 | RYR1 | c.7268T>A (p.Met2423Lys) c.7265T>A (p.Met2422Lys) c.720T>A n.7351T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499961T>C | CA405669357 | RYR1 | c.7268T>C (p.Met2423Thr) c.7265T>C (p.Met2422Thr) c.720T>C n.7351T>C | gnomAD v4 |
19 | g.38499961T>G | CA405669358 | RYR1 | c.7268T>G (p.Met2423Arg) c.7265T>G (p.Met2422Arg) c.720T>G n.7351T>G | |
19 | g.38499961T= | CA2335053031 | RYR1 | c.7268T= (p.Met2423=) c.7265T= (p.Met2422=) c.720T= n.7351T= | |
19 | g.38499962G>A | CA405669361 | RYR1 | c.7269G>A (p.Met2423Ile) c.7266G>A (p.Met2422Ile) c.721G>A n.7352G>A | |
19 | g.38499962G>C | CA405669363 | RYR1 | c.7269G>C (p.Met2423Ile) c.7266G>C (p.Met2422Ile) c.721G>C n.7352G>C | |
19 | g.38499962G>T | CA405669364 | RYR1 | c.7269G>T (p.Met2423Ile) c.7266G>T (p.Met2422Ile) c.721G>T n.7352G>T | |
19 | g.38499963T>A | CA405669366 | RYR1 | c.7270T>A (p.Ser2424Thr) c.7267T>A (p.Ser2423Thr) c.722T>A n.7353T>A | |
19 | g.38499963T>C | CA405669367 | RYR1 | c.7270T>C (p.Ser2424Pro) c.7267T>C (p.Ser2423Pro) c.722T>C n.7353T>C | |
19 | g.38499963T>G | CA405669369 | RYR1 | c.7270T>G (p.Ser2424Ala) c.7267T>G (p.Ser2423Ala) c.722T>G n.7353T>G | |
19 | g.38499964C>A | CA405669373 | RYR1 | c.7271C>A (p.Ser2424Tyr) c.7268C>A (p.Ser2423Tyr) c.723C>A n.7354C>A | |
19 | g.38499964C>G | CA405669374 | RYR1 | c.7271C>G (p.Ser2424Cys) c.7268C>G (p.Ser2423Cys) c.723C>G n.7354C>G | |
19 | g.38499964C>T | CA405669377 | RYR1 | c.7271C>T (p.Ser2424Phe) c.7268C>T (p.Ser2423Phe) c.723C>T n.7354C>T | |
19 | g.38499964_38499967delinsCCTT | CA2335053032 | RYR1 | c.7271_7274delinsCCTT (p.Ser2424=) c.7268_7271delinsCCTT (p.Ser2423=) c.723_726delinsCCTT n.7354_7357delinsCCTT | |
19 | g.38499965C>A | CA507353753 | RYR1 | c.7272C>A (p.Ser2424=) c.7269C>A (p.Ser2423=) c.724C>A n.7355C>A | |
19 | g.38499965C>G | CA507353755 | RYR1 | c.7272C>G (p.Ser2424=) c.7269C>G (p.Ser2423=) c.724C>G n.7355C>G | |
19 | g.38499965C>T | CA507353754 | RYR1 | c.7272C>T (p.Ser2424=) c.7269C>T (p.Ser2423=) c.724C>T n.7355C>T | |
19 | g.38499967_38499969del | CA882051645 | RYR1 | c.7274_7276del (p.Phe2425del) c.7271_7273del (p.Phe2424del) c.726_728del n.7357_7359del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499966T>A | CA405669382 | RYR1 | c.7273T>A (p.Phe2425Ile) c.7270T>A (p.Phe2424Ile) c.725T>A n.7356T>A | |
19 | g.38499966T>C | CA405669388 | RYR1 | c.7273T>C (p.Phe2425Leu) c.7270T>C (p.Phe2424Leu) c.725T>C n.7356T>C | |
19 | g.38499966T>G | CA405669384 | RYR1 | c.7273T>G (p.Phe2425Val) c.7270T>G (p.Phe2424Val) c.725T>G n.7356T>G | |
19 | g.38499967T>A | CA405669390 | RYR1 | c.7274T>A (p.Phe2425Tyr) c.7271T>A (p.Phe2424Tyr) c.726T>A n.7357T>A | |
19 | g.38499967T>C | CA405669395 | RYR1 | c.7274T>C (p.Phe2425Ser) c.7271T>C (p.Phe2424Ser) c.726T>C n.7357T>C | |
19 | g.38499967T>G | CA405669396 | RYR1 | c.7274T>G (p.Phe2425Cys) c.7271T>G (p.Phe2424Cys) c.726T>G n.7357T>G | |
19 | g.38499968C>A | CA405669398 | RYR1 | c.7275C>A (p.Phe2425Leu) c.7272C>A (p.Phe2424Leu) c.727C>A n.7358C>A | |
19 | g.38499968C>G | CA405669399 | RYR1 | c.7275C>G (p.Phe2425Leu) c.7272C>G (p.Phe2424Leu) c.727C>G n.7358C>G | |
19 | g.38499968C>T | CA507353759 | RYR1 | c.7275C>T (p.Phe2425=) c.7272C>T (p.Phe2424=) c.727C>T n.7358C>T | ClinVar gnomAD v4 |
19 | g.38499969T>A | CA405669403 | RYR1 | c.7276T>A (p.Tyr2426Asn) c.7273T>A (p.Tyr2425Asn) c.728T>A n.7359T>A | |
19 | g.38499969T>C | CA405669407 | RYR1 | c.7276T>C (p.Tyr2426His) c.7273T>C (p.Tyr2425His) c.728T>C n.7359T>C | |
19 | g.38499969T>G | CA405669410 | RYR1 | c.7276T>G (p.Tyr2426Asp) c.7273T>G (p.Tyr2425Asp) c.728T>G n.7359T>G | |
19 | g.38499970del | CA2814346208 | RYR1 | c.7277del (p.Tyr2426LeufsTer4) c.7274del (p.Tyr2425LeufsTer4) c.729del n.7360del | |
19 | g.38499970A= | CA2335053033 | RYR1 | c.7277A= (p.Tyr2426=) c.7274A= (p.Tyr2425=) c.729A= n.7360A= | |
19 | g.38499970A>C | CA405669413 | RYR1 | c.7277A>C (p.Tyr2426Ser) c.7274A>C (p.Tyr2425Ser) c.729A>C n.7360A>C | gnomAD v4 |
19 | g.38499970A>G | CA405669417 | RYR1 | c.7277A>G (p.Tyr2426Cys) c.7274A>G (p.Tyr2425Cys) c.729A>G n.7360A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.38499970A>T | CA405669419 | RYR1 | c.7277A>T (p.Tyr2426Phe) c.7274A>T (p.Tyr2425Phe) c.729A>T n.7360A>T | |
19 | g.38499971T>A | CA405669421 | RYR1 | c.7278T>A (p.Tyr2426Ter) c.7275T>A (p.Tyr2425Ter) c.730T>A n.7361T>A | |
19 | g.38499971T>C | CA507353761 | RYR1 | c.7278T>C (p.Tyr2426=) c.7275T>C (p.Tyr2425=) c.730T>C n.7361T>C | ClinVar dbSNP gnomAD v4 |
19 | g.38499971T>G | CA405669422 | RYR1 | c.7278T>G (p.Tyr2426Ter) c.7275T>G (p.Tyr2425Ter) c.730T>G n.7361T>G | |
19 | g.38499972G>A | CA405669427 | RYR1 | c.7279G>A (p.Ala2427Thr) c.7276G>A (p.Ala2426Thr) c.731G>A n.7362G>A | |
19 | g.38499972G>C | CA405669432 | RYR1 | c.7279G>C (p.Ala2427Pro) c.7276G>C (p.Ala2426Pro) c.731G>C n.7362G>C | |
19 | g.38499972G>T | CA405669428 | RYR1 | c.7279G>T (p.Ala2427Ser) c.7276G>T (p.Ala2426Ser) c.731G>T n.7362G>T | |
19 | g.38499973C>A | CA405669437 | RYR1 | c.7280C>A (p.Ala2427Asp) c.7277C>A (p.Ala2426Asp) c.732C>A n.7363C>A | |
19 | g.38499973C>G | CA405669441 | RYR1 | c.7280C>G (p.Ala2427Gly) c.7277C>G (p.Ala2426Gly) c.732C>G n.7363C>G | |
19 | g.38499973C>T | CA405669443 | RYR1 | c.7280C>T (p.Ala2427Val) c.7277C>T (p.Ala2426Val) c.732C>T n.7363C>T | gnomAD v4 COSMIC |
19 | g.38499974C>A | CA507353765 | RYR1 | c.7281C>A (p.Ala2427=) c.7278C>A (p.Ala2426=) c.733C>A n.7364C>A | |
19 | g.38499974C= | CA2335053034 | RYR1 | c.7281C= (p.Ala2427=) c.7278C= (p.Ala2426=) c.733C= n.7364C= | |
19 | g.38499974C>G | CA507353766 | RYR1 | c.7281C>G (p.Ala2427=) c.7278C>G (p.Ala2426=) c.733C>G n.7364C>G | |
19 | g.38499974C>T | CA024735 | RYR1 | c.7281C>T (p.Ala2427=) c.7278C>T (p.Ala2426=) c.733C>T n.7364C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499975G>A | CA024738 | RYR1 | c.7282G>A (p.Ala2428Thr) c.7279G>A (p.Ala2427Thr) c.734G>A n.7365G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38499975G>C | CA405669465 | RYR1 | c.7282G>C (p.Ala2428Pro) c.7279G>C (p.Ala2427Pro) c.734G>C n.7365G>C | |
19 | g.38499975G= | CA2335053035 | RYR1 | c.7282G= (p.Ala2428=) c.7279G= (p.Ala2427=) c.734G= n.7365G= | |
19 | g.38499975G>T | CA405669469 | RYR1 | c.7282G>T (p.Ala2428Ser) c.7279G>T (p.Ala2427Ser) c.734G>T n.7365G>T | ClinVar dbSNP |
19 | g.38499976C>A | CA405669470 | RYR1 | c.7283C>A (p.Ala2428Asp) c.7280C>A (p.Ala2427Asp) c.735C>A n.7366C>A | |
19 | g.38499976C>G | CA405669472 | RYR1 | c.7283C>G (p.Ala2428Gly) c.7280C>G (p.Ala2427Gly) c.735C>G n.7366C>G | |
19 | g.38499976C>T | CA405669477 | RYR1 | c.7283C>T (p.Ala2428Val) c.7280C>T (p.Ala2427Val) c.735C>T n.7366C>T | |
19 | g.38499977C>A | CA507353768 | RYR1 | c.7284C>A (p.Ala2428=) c.7281C>A (p.Ala2427=) c.736C>A n.7367C>A | |
19 | g.38499977C= | CA2335053036 | RYR1 | c.7284C= (p.Ala2428=) c.7281C= (p.Ala2427=) c.736C= n.7367C= | |
19 | g.38499977C>G | CA507353769 | RYR1 | c.7284C>G (p.Ala2428=) c.7281C>G (p.Ala2427=) c.736C>G n.7367C>G | |
19 | g.38499977C>T | CA082393 | RYR1 | c.7284C>T (p.Ala2428=) c.7281C>T (p.Ala2427=) c.736C>T n.7367C>T | dbSNP gnomAD v4 |
19 | g.38499978T>A | CA405669482 | RYR1 | c.7285T>A (p.Leu2429Met) c.7282T>A (p.Leu2428Met) c.737T>A n.7368T>A | |
19 | g.38499978T>C | CA507353770 | RYR1 | c.7285T>C (p.Leu2429=) c.7282T>C (p.Leu2428=) c.737T>C n.7368T>C | |
19 | g.38499978T>G | CA405669479 | RYR1 | c.7285T>G (p.Leu2429Val) c.7282T>G (p.Leu2428Val) c.737T>G n.7368T>G | |
19 | g.38499979T>A | CA405669484 | RYR1 | c.7286T>A (p.Leu2429Ter) c.7283T>A (p.Leu2428Ter) c.738T>A n.7369T>A | |
19 | g.38499979T>C | CA405669487 | RYR1 | c.7286T>C (p.Leu2429Ser) c.7283T>C (p.Leu2428Ser) c.738T>C n.7369T>C | |
19 | g.38499979T>G | CA405669489 | RYR1 | c.7286T>G (p.Leu2429Trp) c.7283T>G (p.Leu2428Trp) c.738T>G n.7369T>G | gnomAD v4 |
19 | g.38499980G>A | CA507353772 | RYR1 | c.7287G>A (p.Leu2429=) c.7284G>A (p.Leu2428=) c.739G>A n.7370G>A | gnomAD v4 |
19 | g.38499980G>C | CA405669491 | RYR1 | c.7287G>C (p.Leu2429Phe) c.7284G>C (p.Leu2428Phe) c.739G>C n.7370G>C | |
19 | g.38499980G>T | CA405669493 | RYR1 | c.7287G>T (p.Leu2429Phe) c.7284G>T (p.Leu2428Phe) c.739G>T n.7370G>T | |
19 | g.38499981A>C | CA405669497 | RYR1 | c.7288A>C (p.Ile2430Leu) c.7285A>C (p.Ile2429Leu) c.740A>C n.7371A>C | |
19 | g.38499981A>G | CA405669506 | RYR1 | c.7288A>G (p.Ile2430Val) c.7285A>G (p.Ile2429Val) c.740A>G n.7371A>G | COSMIC |
19 | g.38499981A>T | CA405669509 | RYR1 | c.7288A>T (p.Ile2430Phe) c.7285A>T (p.Ile2429Phe) c.740A>T n.7371A>T | |
19 | g.38499982T>A | CA405669511 | RYR1 | c.7289T>A (p.Ile2430Asn) c.7286T>A (p.Ile2429Asn) c.741T>A n.7372T>A | |
19 | g.38499982T>C | CA405669512 | RYR1 | c.7289T>C (p.Ile2430Thr) c.7286T>C (p.Ile2429Thr) c.741T>C n.7372T>C | |
19 | g.38499982T>G | CA405669513 | RYR1 | c.7289T>G (p.Ile2430Ser) c.7286T>G (p.Ile2429Ser) c.741T>G n.7372T>G | |
19 | g.38499983C>A | CA507353776 | RYR1 | c.7290C>A (p.Ile2430=) c.7287C>A (p.Ile2429=) c.742C>A n.7373C>A | ClinVar gnomAD v4 |
19 | g.38499983C= | CA2335053037 | RYR1 | c.7290C= (p.Ile2430=) c.7287C= (p.Ile2429=) c.742C= n.7373C= | |
19 | g.38499983C>G | CA069448 | RYR1 | c.7290C>G (p.Ile2430Met) c.7287C>G (p.Ile2429Met) c.742C>G n.7373C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38499983C>T | CA069451 | RYR1 | c.7290C>T (p.Ile2430=) c.7287C>T (p.Ile2429=) c.742C>T n.7373C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.38499984G>A | CA024741 | RYR1 | c.7291G>A (p.Asp2431Asn) c.7288G>A (p.Asp2430Asn) c.743G>A n.7374G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499984G>C | CA405669517 | RYR1 | c.7291G>C (p.Asp2431His) c.7288G>C (p.Asp2430His) c.743G>C n.7374G>C | |
19 | g.38499984G= | CA2335053038 | RYR1 | c.7291G= (p.Asp2431=) c.7288G= (p.Asp2430=) c.743G= n.7374G= | |
19 | g.38499984G>T | CA024744 | RYR1 | c.7291G>T (p.Asp2431Tyr) c.7288G>T (p.Asp2430Tyr) c.743G>T n.7374G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38499985A>C | CA405669521 | RYR1 | c.7292A>C (p.Asp2431Ala) c.7289A>C (p.Asp2430Ala) c.744A>C n.7375A>C | |
19 | g.38499985A>G | CA405669523 | RYR1 | c.7292A>G (p.Asp2431Gly) c.7289A>G (p.Asp2430Gly) c.744A>G n.7375A>G | gnomAD v4 |
19 | g.38499985A>T | CA405669526 | RYR1 | c.7292A>T (p.Asp2431Val) c.7289A>T (p.Asp2430Val) c.744A>T n.7375A>T | ClinVar dbSNP |
19 | g.38499986C>A | CA405669534 | RYR1 | c.7293C>A (p.Asp2431Glu) c.7290C>A (p.Asp2430Glu) c.745C>A n.7376C>A | |
19 | g.38499986C= | CA2335053039 | RYR1 | c.7293C= (p.Asp2431=) c.7290C= (p.Asp2430=) c.745C= n.7376C= | |
19 | g.38499986C>G | CA082394 | RYR1 | c.7293C>G (p.Asp2431Glu) c.7290C>G (p.Asp2430Glu) c.745C>G n.7376C>G | |
19 | g.38499986C>T | CA069456 | RYR1 | c.7293C>T (p.Asp2431=) c.7290C>T (p.Asp2430=) c.745C>T n.7376C>T | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
19 | g.38499987dup | CA2843262422 | RYR1 | c.7294dup (p.Leu2432ProfsTer18) c.7291dup (p.Leu2431ProfsTer18) c.746dup n.7377dup | |
19 | g.38499987C>A | CA405669541 | RYR1 | c.7294C>A (p.Leu2432Met) c.7291C>A (p.Leu2431Met) c.746C>A n.7377C>A | COSMIC |
19 | g.38499987C>G | CA405669544 | RYR1 | c.7294C>G (p.Leu2432Val) c.7291C>G (p.Leu2431Val) c.746C>G n.7377C>G | |
19 | g.38499987C>T | CA507353779 | RYR1 | c.7294C>T (p.Leu2432=) c.7291C>T (p.Leu2431=) c.746C>T n.7377C>T | |
19 | g.38499988T>A | CA405669557 | RYR1 | c.7295T>A (p.Leu2432Gln) c.7292T>A (p.Leu2431Gln) c.747T>A n.7378T>A | |
19 | g.38499988T>C | CA405669558 | RYR1 | c.7295T>C (p.Leu2432Pro) c.7292T>C (p.Leu2431Pro) c.747T>C n.7378T>C | |
19 | g.38499988T>G | CA405669560 | RYR1 | c.7295T>G (p.Leu2432Arg) c.7292T>G (p.Leu2431Arg) c.747T>G n.7378T>G | |
19 | g.38499989G>A | CA507353783 | RYR1 | c.7296G>A (p.Leu2432=) c.7293G>A (p.Leu2431=) c.748G>A n.7379G>A | |
19 | g.38499989G>C | CA507353782 | RYR1 | c.7296G>C (p.Leu2432=) c.7293G>C (p.Leu2431=) c.748G>C n.7379G>C | |
19 | g.38499989G>T | CA507353781 | RYR1 | c.7296G>T (p.Leu2432=) c.7293G>T (p.Leu2431=) c.748G>T n.7379G>T | |
19 | g.38499990C>A | CA405669561 | RYR1 | c.7297C>A (p.Leu2433Ile) c.7294C>A (p.Leu2432Ile) c.749C>A n.7380C>A | |
19 | g.38499990C>G | CA405669562 | RYR1 | c.7297C>G (p.Leu2433Val) c.7294C>G (p.Leu2432Val) c.749C>G n.7380C>G | |
19 | g.38499990C>T | CA405669563 | RYR1 | c.7297C>T (p.Leu2433Phe) c.7294C>T (p.Leu2432Phe) c.749C>T n.7380C>T | |
19 | g.38499991T>A | CA405669565 | RYR1 | c.7298T>A (p.Leu2433His) c.7295T>A (p.Leu2432His) c.750T>A n.7381T>A | |
19 | g.38499991T>C | CA405669567 | RYR1 | c.7298T>C (p.Leu2433Pro) c.7295T>C (p.Leu2432Pro) c.750T>C n.7381T>C | ClinVar dbSNP |
19 | g.38499991T>G | CA405669564 | RYR1 | c.7298T>G (p.Leu2433Arg) c.7295T>G (p.Leu2432Arg) c.750T>G n.7381T>G | |
19 | g.38499991T= | CA2335053040 | RYR1 | c.7298T= (p.Leu2433=) c.7295T= (p.Leu2432=) c.750T= n.7381T= | |
19 | g.38499992C>A | CA507353784 | RYR1 | c.7299C>A (p.Leu2433=) c.7296C>A (p.Leu2432=) c.751C>A n.7382C>A | |
19 | g.38499992C= | CA2335053041 | RYR1 | c.7299C= (p.Leu2433=) c.7296C= (p.Leu2432=) c.751C= n.7382C= | |
19 | g.38499992C>G | CA507353786 | RYR1 | c.7299C>G (p.Leu2433=) c.7296C>G (p.Leu2432=) c.751C>G n.7382C>G | |
19 | g.38499992C>T | CA069459 | RYR1 | c.7299C>T (p.Leu2433=) c.7296C>T (p.Leu2432=) c.751C>T n.7382C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499993G>A | CA024747 | RYR1 | c.7300G>A (p.Gly2434Arg) c.7297G>A (p.Gly2433Arg) c.752G>A n.7383G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.38499993G>C | CA405669571 | RYR1 | c.7300G>C (p.Gly2434Arg) c.7297G>C (p.Gly2433Arg) c.752G>C n.7383G>C | |
19 | g.38499993G= | CA2335053042 | RYR1 | c.7300G= (p.Gly2434=) c.7297G= (p.Gly2433=) c.752G= n.7383G= | |
19 | g.38499993G>T | CA405669574 | RYR1 | c.7300G>T (p.Gly2434Ter) c.7297G>T (p.Gly2433Ter) c.752G>T n.7383G>T | |
19 | g.38499994G>A | CA405669580 | RYR1 | c.7301G>A (p.Gly2434Glu) c.7298G>A (p.Gly2433Glu) c.753G>A n.7384G>A | |
19 | g.38499994G>C | CA405669582 | RYR1 | c.7301G>C (p.Gly2434Ala) c.7298G>C (p.Gly2433Ala) c.753G>C n.7384G>C | |
19 | g.38499994G>T | CA405669583 | RYR1 | c.7301G>T (p.Gly2434Val) c.7298G>T (p.Gly2433Val) c.753G>T n.7384G>T | |
19 | g.38499995A= | CA2335053043 | RYR1 | c.7302A= (p.Gly2434=) c.7299A= (p.Gly2433=) c.754A= n.7385A= | |
19 | g.38499995A>C | CA507353790 | RYR1 | c.7302A>C (p.Gly2434=) c.7299A>C (p.Gly2433=) c.754A>C n.7385A>C | |
19 | g.38499995A>G | CA308109856 | RYR1 | c.7302A>G (p.Gly2434=) c.7299A>G (p.Gly2433=) c.754A>G n.7385A>G | ClinVar dbSNP |
19 | g.38499995A>T | CA507353791 | RYR1 | c.7302A>T (p.Gly2434=) c.7299A>T (p.Gly2433=) c.754A>T n.7385A>T | |
19 | g.38499996C>A | CA405669586 | RYR1 | c.7303C>A (p.Arg2435Ser) c.7300C>A (p.Arg2434Ser) c.755C>A n.7386C>A | |
19 | g.38499996C= | CA2335053044 | RYR1 | c.7303C= (p.Arg2435=) c.7300C= (p.Arg2434=) c.755C= n.7386C= | |
19 | g.38499996C>G | CA405669588 | RYR1 | c.7303C>G (p.Arg2435Gly) c.7300C>G (p.Arg2434Gly) c.755C>G n.7386C>G | |
19 | g.38499996C>T | CA405669590 | RYR1 | c.7303C>T (p.Arg2435Cys) c.7300C>T (p.Arg2434Cys) c.755C>T n.7386C>T | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.38499997G>A | CA024750 | RYR1 | c.7304G>A (p.Arg2435His) c.7301G>A (p.Arg2434His) c.756G>A n.7387G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38499997G>C | CA405669594 | RYR1 | c.7304G>C (p.Arg2435Pro) c.7301G>C (p.Arg2434Pro) c.756G>C n.7387G>C | |
19 | g.38499997G= | CA2335053045 | RYR1 | c.7304G= (p.Arg2435=) c.7301G= (p.Arg2434=) c.756G= n.7387G= | |
19 | g.38499997G>T | CA024753 | RYR1 | c.7304G>T (p.Arg2435Leu) c.7301G>T (p.Arg2434Leu) c.756G>T n.7387G>T | ClinVar dbSNP gnomAD v4 |
19 | g.38499998C>A | CA507353792 | RYR1 | c.7305C>A (p.Arg2435=) c.7302C>A (p.Arg2434=) c.757C>A n.7388C>A | |
19 | g.38499998C= | CA2335053047 | RYR1 | c.7305C= (p.Arg2435=) c.7302C= (p.Arg2434=) c.757C= n.7388C= | |
19 | g.38499998C>G | CA507353793 | RYR1 | c.7305C>G (p.Arg2435=) c.7302C>G (p.Arg2434=) c.757C>G n.7388C>G | ClinVar |
19 | g.38499998C>T | CA507353794 | RYR1 | c.7305C>T (p.Arg2435=) c.7302C>T (p.Arg2434=) c.757C>T n.7388C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38499998_38500000delinsCTG | CA2335053046 | RYR1 | c.7305_7307delinsCTG (p.Arg2435=) c.7302_7304delinsCTG (p.Arg2434=) c.757_759delinsCTG n.7388_7390delinsCTG | |
19 | g.38499999T>A | CA405669612 | RYR1 | c.7306T>A (p.Cys2436Ser) c.7303T>A (p.Cys2435Ser) c.758T>A n.7389T>A | |
19 | g.38499999T>C | CA405669615 | RYR1 | c.7306T>C (p.Cys2436Arg) c.7303T>C (p.Cys2435Arg) c.758T>C n.7389T>C | gnomAD v4 |
19 | g.38499999T>G | CA405669614 | RYR1 | c.7306T>G (p.Cys2436Gly) c.7303T>G (p.Cys2435Gly) c.758T>G n.7389T>G | |
19 | g.38500001_38500002del | CA069470 | RYR1 | c.7308_7309del (p.Ala2437ThrfsTer12) c.7305_7306del (p.Ala2436ThrfsTer12) c.760_761del n.7391_7392del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500000G>A | CA405669616 | RYR1 | c.7307G>A (p.Cys2436Tyr) c.7304G>A (p.Cys2435Tyr) c.759G>A n.7390G>A | ClinVar dbSNP gnomAD v4 |
19 | g.38500000G>C | CA405669618 | RYR1 | c.7307G>C (p.Cys2436Ser) c.7304G>C (p.Cys2435Ser) c.759G>C n.7390G>C | |
19 | g.38500000G= | CA2740130092 | RYR1 | c.7307G= (p.Cys2436=) c.7304G= (p.Cys2435=) c.759G= n.7390G= | |
19 | g.38500000G>T | CA405669620 | RYR1 | c.7307G>T (p.Cys2436Phe) c.7304G>T (p.Cys2435Phe) c.759G>T n.7390G>T | |
19 | g.38500001T>A | CA405669622 | RYR1 | c.7308T>A (p.Cys2436Ter) c.7305T>A (p.Cys2435Ter) c.760T>A n.7391T>A | |
19 | g.38500001T>C | CA069474 | RYR1 | c.7308T>C (p.Cys2436=) c.7305T>C (p.Cys2435=) c.760T>C n.7391T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500001T>G | CA405669624 | RYR1 | c.7308T>G (p.Cys2436Trp) c.7305T>G (p.Cys2435Trp) c.760T>G n.7391T>G | |
19 | g.38500001T= | CA2335053048 | RYR1 | c.7308T= (p.Cys2436=) c.7305T= (p.Cys2435=) c.760T= n.7391T= | |
19 | g.38500002G>A | CA405669626 | RYR1 | c.7309G>A (p.Ala2437Thr) c.7306G>A (p.Ala2436Thr) c.761G>A n.7392G>A | |
19 | g.38500002G>C | CA405669628 | RYR1 | c.7309G>C (p.Ala2437Pro) c.7306G>C (p.Ala2436Pro) c.761G>C n.7392G>C | |
19 | g.38500002G>T | CA405669635 | RYR1 | c.7309G>T (p.Ala2437Ser) c.7306G>T (p.Ala2436Ser) c.761G>T n.7392G>T | |
19 | g.38500003C>A | CA405669640 | RYR1 | c.7310C>A (p.Ala2437Glu) c.7307C>A (p.Ala2436Glu) c.762C>A n.7393C>A | |
19 | g.38500003C= | CA2335053049 | RYR1 | c.7310C= (p.Ala2437=) c.7307C= (p.Ala2436=) c.762C= n.7393C= | |
19 | g.38500003C>G | CA405669638 | RYR1 | c.7310C>G (p.Ala2437Gly) c.7307C>G (p.Ala2436Gly) c.762C>G n.7393C>G | |
19 | g.38500003C>T | CA024756 | RYR1 | c.7310C>T (p.Ala2437Val) c.7307C>T (p.Ala2436Val) c.762C>T n.7393C>T | ClinVar dbSNP |
19 | g.38500004A= | CA2335053050 | RYR1 | c.7311A= (p.Ala2437=) c.7308A= (p.Ala2436=) c.763A= n.7394A= | |
19 | g.38500004A>C | CA308109874 | RYR1 | c.7311A>C (p.Ala2437=) c.7308A>C (p.Ala2436=) c.763A>C n.7394A>C | dbSNP |
19 | g.38500004A>G | CA507353803 | RYR1 | c.7311A>G (p.Ala2437=) c.7308A>G (p.Ala2436=) c.763A>G n.7394A>G | ClinVar gnomAD v4 |
19 | g.38500004A>T | CA507353804 | RYR1 | c.7311A>T (p.Ala2437=) c.7308A>T (p.Ala2436=) c.763A>T n.7394A>T | |
19 | g.38500005C>A | CA405669642 | RYR1 | c.7312C>A (p.Pro2438Thr) c.7309C>A (p.Pro2437Thr) c.764C>A n.7395C>A | |
19 | g.38500005C>G | CA405669645 | RYR1 | c.7312C>G (p.Pro2438Ala) c.7309C>G (p.Pro2437Ala) c.764C>G n.7395C>G | gnomAD v4 |
19 | g.38500005C>T | CA405669643 | RYR1 | c.7312C>T (p.Pro2438Ser) c.7309C>T (p.Pro2437Ser) c.764C>T n.7395C>T | gnomAD v3 gnomAD v4 |
19 | g.38500006C>A | CA405669650 | RYR1 | c.7313C>A (p.Pro2438Gln) c.7310C>A (p.Pro2437Gln) c.765C>A n.7396C>A | |
19 | g.38500006C>G | CA405669651 | RYR1 | c.7313C>G (p.Pro2438Arg) c.7310C>G (p.Pro2437Arg) c.765C>G n.7396C>G | |
19 | g.38500006C>T | CA405669657 | RYR1 | c.7313C>T (p.Pro2438Leu) c.7310C>T (p.Pro2437Leu) c.765C>T n.7396C>T | |
19 | g.38500007A= | CA2335053051 | RYR1 | c.7314A= (p.Pro2438=) c.7311A= (p.Pro2437=) c.766A= n.7397A= | |
19 | g.38500007A>C | CA507353806 | RYR1 | c.7314A>C (p.Pro2438=) c.7311A>C (p.Pro2437=) c.766A>C n.7397A>C | |
19 | g.38500007A>G | CA507353807 | RYR1 | c.7314A>G (p.Pro2438=) c.7311A>G (p.Pro2437=) c.766A>G n.7397A>G | ClinVar dbSNP gnomAD v4 |
19 | g.38500007A>T | CA507353808 | RYR1 | c.7314A>T (p.Pro2438=) c.7311A>T (p.Pro2437=) c.766A>T n.7397A>T | |
19 | g.38500008G>A | CA405669658 | RYR1 | c.7315G>A (p.Glu2439Lys) c.7312G>A (p.Glu2438Lys) c.767G>A n.7398G>A | ClinVar dbSNP |
19 | g.38500008G>C | CA405669659 | RYR1 | c.7315G>C (p.Glu2439Gln) c.7312G>C (p.Glu2438Gln) c.767G>C n.7398G>C | |
19 | g.38500008G= | CA2335053052 | RYR1 | c.7315G= (p.Glu2439=) c.7312G= (p.Glu2438=) c.767G= n.7398G= | |
19 | g.38500008G>T | CA405669660 | RYR1 | c.7315G>T (p.Glu2439Ter) c.7312G>T (p.Glu2438Ter) c.767G>T n.7398G>T | gnomAD v4 |
19 | g.38500009A>C | CA405669666 | RYR1 | c.7316A>C (p.Glu2439Ala) c.7313A>C (p.Glu2438Ala) c.768A>C n.7399A>C | |
19 | g.38500009A>G | CA405669662 | RYR1 | c.7316A>G (p.Glu2439Gly) c.7313A>G (p.Glu2438Gly) c.768A>G n.7399A>G | ClinVar |
19 | g.38500009A>T | CA405669664 | RYR1 | c.7316A>T (p.Glu2439Val) c.7313A>T (p.Glu2438Val) c.768A>T n.7399A>T | |
19 | g.38500010G>A | CA507353812 | RYR1 | c.7317G>A (p.Glu2439=) c.7314G>A (p.Glu2438=) c.769G>A n.7400G>A | |
19 | g.38500010G>C | CA024758 | RYR1 | c.7317G>C (p.Glu2439Asp) c.7314G>C (p.Glu2438Asp) c.769G>C n.7400G>C | ClinVar dbSNP |
19 | g.38500010G= | CA2335053053 | RYR1 | c.7317G= (p.Glu2439=) c.7314G= (p.Glu2438=) c.769G= n.7400G= | |
19 | g.38500010G>T | CA405669669 | RYR1 | c.7317G>T (p.Glu2439Asp) c.7314G>T (p.Glu2438Asp) c.769G>T n.7400G>T | |
19 | g.38500011A>C | CA405669670 | RYR1 | c.7318A>C (p.Met2440Leu) c.7315A>C (p.Met2439Leu) c.770A>C n.7401A>C | |
19 | g.38500011A>G | CA405669671 | RYR1 | c.7318A>G (p.Met2440Val) c.7315A>G (p.Met2439Val) c.770A>G n.7401A>G | |
19 | g.38500011A>T | CA405669672 | RYR1 | c.7318A>T (p.Met2440Leu) c.7315A>T (p.Met2439Leu) c.770A>T n.7401A>T | |
19 | g.38500012T>A | CA405669675 | RYR1 | c.7319T>A (p.Met2440Lys) c.7316T>A (p.Met2439Lys) c.771T>A n.7402T>A | |
19 | g.38500012T>C | CA405669677 | RYR1 | c.7319T>C (p.Met2440Thr) c.7316T>C (p.Met2439Thr) c.771T>C n.7402T>C | |
19 | g.38500012T>G | CA405669676 | RYR1 | c.7319T>G (p.Met2440Arg) c.7316T>G (p.Met2439Arg) c.771T>G n.7402T>G | |
19 | g.38500013G>A | CA405669679 | RYR1 | c.7320G>A (p.Met2440Ile) c.7317G>A (p.Met2439Ile) c.772G>A n.7403G>A | gnomAD v4 |
19 | g.38500013G>C | CA405669681 | RYR1 | c.7320G>C (p.Met2440Ile) c.7317G>C (p.Met2439Ile) c.772G>C n.7403G>C | |
19 | g.38500013G= | CA2335053054 | RYR1 | c.7320G= (p.Met2440=) c.7317G= (p.Met2439=) c.772G= n.7403G= | |
19 | g.38500013G>T | CA308109894 | RYR1 | c.7320G>T (p.Met2440Ile) c.7317G>T (p.Met2439Ile) c.772G>T n.7403G>T | dbSNP |
19 | g.38500014C>A | CA405669683 | RYR1 | c.7321C>A (p.His2441Asn) c.7318C>A (p.His2440Asn) c.773C>A n.7404C>A | |
19 | g.38500014C= | CA2335053055 | RYR1 | c.7321C= (p.His2441=) c.7318C= (p.His2440=) c.773C= n.7404C= | |
19 | g.38500014C>G | CA069482 | RYR1 | c.7321C>G (p.His2441Asp) c.7318C>G (p.His2440Asp) c.773C>G n.7404C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500014C>T | CA405669684 | RYR1 | c.7321C>T (p.His2441Tyr) c.7318C>T (p.His2440Tyr) c.773C>T n.7404C>T | |
19 | g.38500015A>C | CA405669685 | RYR1 | c.7322A>C (p.His2441Pro) c.7319A>C (p.His2440Pro) c.774A>C n.7405A>C | gnomAD v4 |
19 | g.38500015A>G | CA405669688 | RYR1 | c.7322A>G (p.His2441Arg) c.7319A>G (p.His2440Arg) c.774A>G n.7405A>G | |
19 | g.38500015A>T | CA405669691 | RYR1 | c.7322A>T (p.His2441Leu) c.7319A>T (p.His2440Leu) c.774A>T n.7405A>T | |
19 | g.38500016T>A | CA405669695 | RYR1 | c.7323T>A (p.His2441Gln) c.7320T>A (p.His2440Gln) c.775T>A n.7406T>A | |
19 | g.38500016T>C | CA308109898 | RYR1 | c.7323T>C (p.His2441=) c.7320T>C (p.His2440=) c.775T>C n.7406T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500016T>G | CA405669697 | RYR1 | c.7323T>G (p.His2441Gln) c.7320T>G (p.His2440Gln) c.775T>G n.7406T>G | dbSNP |
19 | g.38500016T= | CA2335053056 | RYR1 | c.7323T= (p.His2441=) c.7320T= (p.His2440=) c.775T= n.7406T= | |
19 | g.38500017G>A | CA069484 | RYR1 | c.7323+1G>A (n.7323+1G>A) c.7320+1G>A (n.7320+1G>A) c.775+1G>A n.7406+1G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500017G>C | CA405669709 | RYR1 | c.7323+1G>C (n.7323+1G>C) c.7320+1G>C (n.7320+1G>C) c.775+1G>C n.7406+1G>C | |
19 | g.38500017G= | CA2335053057 | RYR1 | c.7323+1G= (n.7323+1G=) c.7320+1G= (n.7320+1G=) c.775+1G= n.7406+1G= | |
19 | g.38500017G>T | CA405669706 | RYR1 | c.7323+1G>T (n.7323+1G>T) c.7320+1G>T (n.7320+1G>T) c.775+1G>T n.7406+1G>T | |
19 | g.38500018T>A | CA405669713 | RYR1 | c.7323+2T>A (n.7323+2T>A) c.7320+2T>A (n.7320+2T>A) c.775+2T>A n.7406+2T>A | |
19 | g.38500018T>C | CA405669714 | RYR1 | c.7323+2T>C (n.7323+2T>C) c.7320+2T>C (n.7320+2T>C) c.775+2T>C n.7406+2T>C | |
19 | g.38500018T>G | CA405669715 | RYR1 | c.7323+2T>G (n.7323+2T>G) c.7320+2T>G (n.7320+2T>G) c.775+2T>G n.7406+2T>G | |
19 | g.38500019G>A | CA2576771092 | RYR1 | c.7323+3G>A (n.7323+3G>A) c.7320+3G>A (n.7320+3G>A) c.775+3G>A n.7406+3G>A | |
19 | g.38500021G>T | CA2584900092 | RYR1 | c.7323+5G>T (n.7323+5G>T) c.7320+5G>T (n.7320+5G>T) c.775+5G>T n.7406+5G>T | gnomAD v4 |
19 | g.38500023C>A | CA069509 | RYR1 | c.7323+7C>A (n.7323+7C>A) c.7320+7C>A (n.7320+7C>A) c.775+7C>A n.7406+7C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500023C= | CA2335053058 | RYR1 | c.7323+7C= (n.7323+7C=) c.7320+7C= (n.7320+7C=) c.775+7C= n.7406+7C= | |
19 | g.38500025dup | CA2843262423 | RYR1 | c.7323+9dup (n.7323+9dup) c.7320+9dup (n.7320+9dup) c.775+9dup n.7406+9dup | |
19 | g.38500024C>A | CA069513 | RYR1 | c.7323+8C>A (n.7323+8C>A) c.7320+8C>A (n.7320+8C>A) c.775+8C>A n.7406+8C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.38500024C= | CA2335053059 | RYR1 | c.7323+8C= (n.7323+8C=) c.7320+8C= (n.7320+8C=) c.775+8C= n.7406+8C= | |
19 | g.38500024C>T | CA2739276776 | RYR1 | c.7323+8C>T (n.7323+8C>T) c.7320+8C>T (n.7320+8C>T) c.775+8C>T n.7406+8C>T | ClinVar |
19 | g.38500025C>A | CA2843262424 | RYR1 | c.7323+9C>A (n.7323+9C>A) c.7320+9C>A (n.7320+9C>A) c.775+9C>A n.7406+9C>A | |
19 | g.38500026T>G | CA2740096895 | RYR1 | c.7323+10T>G (n.7323+10T>G) c.7320+10T>G (n.7320+10T>G) c.775+10T>G n.7406+10T>G | ClinVar |
19 | g.38500027G>A | CA882051824 | RYR1 | c.7323+11G>A (n.7323+11G>A) c.7320+11G>A (n.7320+11G>A) c.775+11G>A n.7406+11G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500027G>C | CA2576771093 | RYR1 | c.7323+11G>C (n.7323+11G>C) c.7320+11G>C (n.7320+11G>C) c.775+11G>C n.7406+11G>C | |
19 | g.38500027G= | CA2335053060 | RYR1 | c.7323+11G= (n.7323+11G=) c.7320+11G= (n.7320+11G=) c.775+11G= n.7406+11G= | |
19 | g.38500027G>T | CA2584900093 | RYR1 | c.7323+11G>T (n.7323+11G>T) c.7320+11G>T (n.7320+11G>T) c.775+11G>T n.7406+11G>T | gnomAD v4 |
19 | g.38500029G>A | CA633066136 | RYR1 | c.7323+13G>A (n.7323+13G>A) c.7320+13G>A (n.7320+13G>A) c.775+13G>A n.7406+13G>A | dbSNP gnomAD v2 |
19 | g.38500029G= | CA2335053061 | RYR1 | c.7323+13G= (n.7323+13G=) c.7320+13G= (n.7320+13G=) c.775+13G= n.7406+13G= | |
19 | g.38500031_38500036del | CA2580097211 | RYR1 | c.7323+15_7323+20del (n.7323+15_7323+20del) c.7320+15_7320+20del (n.7320+15_7320+20del) c.775+15_775+20del n.7406+15_7406+20del | ClinVar gnomAD v4 |
19 | g.38500030C>T | CA2584900094 | RYR1 | c.7323+14C>T (n.7323+14C>T) c.7320+14C>T (n.7320+14C>T) c.775+14C>T n.7406+14C>T | gnomAD v4 |
19 | g.38500031C>A | CA2576771094 | RYR1 | c.7323+15C>A (n.7323+15C>A) c.7320+15C>A (n.7320+15C>A) c.775+15C>A n.7406+15C>A | |
19 | g.38500032A>G | CA2584900095 | RYR1 | c.7323+16A>G (n.7323+16A>G) c.7320+16A>G (n.7320+16A>G) c.775+16A>G n.7406+16A>G | gnomAD v4 |
19 | g.38500040_38500057dup | CA2740096896 | RYR1 | c.7323+24_7323+41dup (n.7323+24_7323+41dup) c.7320+24_7320+41dup (n.7320+24_7320+41dup) c.775+24_775+41dup n.7406+24_7406+41dup | ClinVar |
19 | g.38500033G>A | CA308109904 | RYR1 | c.7323+17G>A (n.7323+17G>A) c.7320+17G>A (n.7320+17G>A) c.775+17G>A n.7406+17G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.38500033G= | CA2335053062 | RYR1 | c.7323+17G= (n.7323+17G=) c.7320+17G= (n.7320+17G=) c.775+17G= n.7406+17G= | |
19 | g.38500033G>T | CA2839745717 | RYR1 | c.7323+17G>T (n.7323+17G>T) c.7320+17G>T (n.7320+17G>T) c.775+17G>T n.7406+17G>T | |
19 | g.38500034G>T | CA2843262425 | RYR1 | c.7323+18G>T (n.7323+18G>T) c.7320+18G>T (n.7320+18G>T) c.775+18G>T n.7406+18G>T | |
19 | g.38500035G>A | CA2584900096 | RYR1 | c.7323+19G>A (n.7323+19G>A) c.7320+19G>A (n.7320+19G>A) c.775+19G>A n.7406+19G>A | gnomAD v4 |
19 | g.38500036C>A | CA024761 | RYR1 | c.7323+20C>A (n.7323+20C>A) c.7320+20C>A (n.7320+20C>A) c.775+20C>A n.7406+20C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500036C= | CA2335053063 | RYR1 | c.7323+20C= (n.7323+20C=) c.7320+20C= (n.7320+20C=) c.775+20C= n.7406+20C= | |
19 | g.38500036C>G | CA2581382501 | RYR1 | c.7323+20C>G (n.7323+20C>G) c.7320+20C>G (n.7320+20C>G) c.775+20C>G n.7406+20C>G | |
19 | g.38500036C>T | CA308109906 | RYR1 | c.7323+20C>T (n.7323+20C>T) c.7320+20C>T (n.7320+20C>T) c.775+20C>T n.7406+20C>T | dbSNP COSMIC |
19 | g.38500038G>A | CA2576771095 | RYR1 | c.7323+22G>A (n.7323+22G>A) c.7320+22G>A (n.7320+22G>A) c.775+22G>A n.7406+22G>A | |
19 | g.38500038G>T | CA657360681 | RYR1 | c.7323+22G>T (n.7323+22G>T) c.7320+22G>T (n.7320+22G>T) c.775+22G>T n.7406+22G>T | COSMIC |
19 | g.38500039G>A | CA069490 | RYR1 | c.7323+23G>A (n.7323+23G>A) c.7320+23G>A (n.7320+23G>A) c.775+23G>A n.7406+23G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.38500039G= | CA2335053064 | RYR1 | c.7323+23G= (n.7323+23G=) c.7320+23G= (n.7320+23G=) c.775+23G= n.7406+23G= | |
19 | g.38500039G>T | CA2584900097 | RYR1 | c.7323+23G>T (n.7323+23G>T) c.7320+23G>T (n.7320+23G>T) c.775+23G>T n.7406+23G>T | gnomAD v4 |
19 | g.38500041T>C | CA2584900098 | RYR1 | c.7323+25T>C (n.7323+25T>C) c.7320+25T>C (n.7320+25T>C) c.775+25T>C n.7406+25T>C | gnomAD v4 |
19 | g.38500041T>G | CA2335053066 | RYR1 | c.7323+25T>G (n.7323+25T>G) c.7320+25T>G (n.7320+25T>G) c.775+25T>G n.7406+25T>G | dbSNP gnomAD v4 |
19 | g.38500041T= | CA2335053065 | RYR1 | c.7323+25T= (n.7323+25T=) c.7320+25T= (n.7320+25T=) c.775+25T= n.7406+25T= |