17 | g.63971826G>A | CA8710125 | SCN4A | c.507C>T (p.Thr169=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63971826G>C | CA501227031 | SCN4A | c.507C>G (p.Thr169=)
| |
17 | g.63971826G= | CA2270175544 | SCN4A | c.507C= (p.Thr169=)
| |
17 | g.63971826G>T | CA501227030 | SCN4A | c.507C>A (p.Thr169=)
| |
17 | g.63971827G>A | CA400639259 | SCN4A | c.506C>T (p.Thr169Ile)
| gnomAD v4 |
17 | g.63971827G>C | CA400639261 | SCN4A | c.506C>G (p.Thr169Ser)
| |
17 | g.63971827G= | CA2270175545 | SCN4A | c.506C= (p.Thr169=)
| |
17 | g.63971827G>T | CA400639263 | SCN4A | c.506C>A (p.Thr169Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63971828T>A | CA400639265 | SCN4A | c.505A>T (p.Thr169Ser)
| |
17 | g.63971828T>C | CA400639267 | SCN4A | c.505A>G (p.Thr169Ala)
| dbSNP gnomAD v4 |
17 | g.63971828T>G | CA400639268 | SCN4A | c.505A>C (p.Thr169Pro)
| |
17 | g.63971828T= | CA2270175546 | SCN4A | c.505A= (p.Thr169=)
| |
17 | g.63971829G>A | CA501227032 | SCN4A | c.504C>T (p.Tyr168=)
| |
17 | g.63971829G>C | CA400639272 | SCN4A | c.504C>G (p.Tyr168Ter)
| |
17 | g.63971829G>T | CA400639270 | SCN4A | c.504C>A (p.Tyr168Ter)
| |
17 | g.63971830T>A | CA400639274 | SCN4A | c.503A>T (p.Tyr168Phe)
| ClinVar gnomAD v4 |
17 | g.63971830T>C | CA400639276 | SCN4A | c.503A>G (p.Tyr168Cys)
| gnomAD v4 |
17 | g.63971830T>G | CA400639275 | SCN4A | c.503A>C (p.Tyr168Ser)
| |
17 | g.63971831A>C | CA400639278 | SCN4A | c.502T>G (p.Tyr168Asp)
| |
17 | g.63971831A>G | CA400639282 | SCN4A | c.502T>C (p.Tyr168His)
| |
17 | g.63971831A>T | CA400639280 | SCN4A | c.502T>A (p.Tyr168Asn)
| |
17 | g.63971832del | CA2576356211 | SCN4A | c.501del (p.Tyr168ThrfsTer?)
| |
17 | g.63971832G>A | CA501227033 | SCN4A | c.501C>T (p.Ile167=)
| |
17 | g.63971832G>C | CA400639284 | SCN4A | c.501C>G (p.Ile167Met)
| |
17 | g.63971832G>T | CA501227034 | SCN4A | c.501C>A (p.Ile167=)
| |
17 | g.63971833A>C | CA400639286 | SCN4A | c.500T>G (p.Ile167Ser)
| |
17 | g.63971833A>G | CA400639288 | SCN4A | c.500T>C (p.Ile167Thr)
| |
17 | g.63971833A>T | CA400639290 | SCN4A | c.500T>A (p.Ile167Asn)
| |
17 | g.63971834T>A | CA8710126 | SCN4A | c.499A>T (p.Ile167Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63971834T>C | CA400639293 | SCN4A | c.499A>G (p.Ile167Val)
| gnomAD v4 |
17 | g.63971834T>G | CA400639294 | SCN4A | c.499A>C (p.Ile167Leu)
| |
17 | g.63971834T= | CA2270175547 | SCN4A | c.499A= (p.Ile167=)
| |
17 | g.63971835C>A | CA501227035 | SCN4A | c.498G>T (p.Gly166=)
| gnomAD v4 |
17 | g.63971835C= | CA2270175548 | SCN4A | c.498G= (p.Gly166=)
| |
17 | g.63971835C>G | CA501227036 | SCN4A | c.498G>C (p.Gly166=)
| |
17 | g.63971835C>T | CA501227037 | SCN4A | c.498G>A (p.Gly166=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63971835_63971836insTCGGTGGTCG | CA627150685 | SCN4A | c.497_498insCGACCACCGA (p.Ile167AspfsTer8)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAATGG | CA2639310338 | SCN4A | c.497_498insCCATTTTTTTAATGATACGGCGACCACCGA (p.Gly166_Ile167insHisPhePheAsnAspThrAlaThrThrGlu)
| gnomAD v4 |
17 | g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAAGAG | CA2639310333 | SCN4A | c.497_498insCTCTTTTTTTAATGATACGGCGACCACCGA (p.Gly166_Ile167insSerPhePheAsnAspThrAlaThrThrGlu)
| gnomAD v4 |
17 | g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAAAAA | CA2810128079 | SCN4A | c.497_498insTTTTTTTTTTAATGATACGGCGACCACCGA (p.Gly166_Ile167insPhePhePheAsnAspThrAlaThrThrGlu)
| |
17 | g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAAGGAACGG | CA2639310335 | SCN4A | c.497_498insCCGTTCCTTTTTTTAATGATACGGCGACCACCGA (p.Ile167ArgfsTer5)
| gnomAD v4 |
17 | g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAAAAAAAAG | CA2639310332 | SCN4A | c.497_498insCTTTTTTTTTTTTTAATGATACGGCGACCACCGA (p.Ile167PhefsTer5)
| gnomAD v4 |
17 | g.63971836C>A | CA400639296 | SCN4A | c.497G>T (p.Gly166Val)
| dbSNP gnomAD v4 |
17 | g.63971836C= | CA2270175549 | SCN4A | c.497G= (p.Gly166=)
| |
17 | g.63971836C>G | CA400639298 | SCN4A | c.497G>C (p.Gly166Ala)
| |
17 | g.63971836C>T | CA400639300 | SCN4A | c.497G>A (p.Gly166Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971837C>A | CA400639305 | SCN4A | c.496G>T (p.Gly166Trp)
| |
17 | g.63971837C>G | CA400639303 | SCN4A | c.496G>C (p.Gly166Arg)
| |
17 | g.63971837C>T | CA400639302 | SCN4A | c.496G>A (p.Gly166Arg)
| gnomAD v4 |
17 | g.63971838T>A | CA501227038 | SCN4A | c.495A>T (p.Thr165=)
| |
17 | g.63971838T>C | CA501227039 | SCN4A | c.495A>G (p.Thr165=)
| |
17 | g.63971838T>G | CA501227040 | SCN4A | c.495A>C (p.Thr165=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971838T= | CA2270175550 | SCN4A | c.495A= (p.Thr165=)
| |
17 | g.63971838_63971843del | CA985437898 | SCN4A | c.490_495del (p.Phe164_Thr165del)
| gnomAD v3 gnomAD v4 |
17 | g.63971839G>A | CA400639306 | SCN4A | c.494C>T (p.Thr165Ile)
| ClinVar dbSNP gnomAD v2 COSMIC |
17 | g.63971839G>C | CA400639307 | SCN4A | c.494C>G (p.Thr165Arg)
| |
17 | g.63971839G= | CA2270175551 | SCN4A | c.494C= (p.Thr165=)
| |
17 | g.63971839G>T | CA400639308 | SCN4A | c.494C>A (p.Thr165Lys)
| |
17 | g.63971840T>A | CA400639309 | SCN4A | c.493A>T (p.Thr165Ser)
| |
17 | g.63971840T>C | CA400639310 | SCN4A | c.493A>G (p.Thr165Ala)
| |
17 | g.63971840T>G | CA400639311 | SCN4A | c.493A>C (p.Thr165Pro)
| dbSNP |
17 | g.63971840_63971843delinsTGAA | CA2270175552 | SCN4A | c.490_493delinsTTCA (p.Phe164=)
| |
17 | g.63971841G>A | CA501227041 | SCN4A | c.492C>T (p.Phe164=)
| |
17 | g.63971841G>C | CA400639312 | SCN4A | c.492C>G (p.Phe164Leu)
| |
17 | g.63971841G= | CA2270175553 | SCN4A | c.492C= (p.Phe164=)
| |
17 | g.63971841G>T | CA400639313 | SCN4A | c.492C>A (p.Phe164Leu)
| |
17 | g.63971841_63971842insGTCGCCG | CA627150687 | SCN4A | c.492_493insGGCGACC (p.Thr165GlyfsTer9)
| gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAAAAAG | CA2639310355 | SCN4A | c.492_493insTTTTTTTAATGATACGGCGACC (p.Thr165PhefsTer3)
| gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAAAAAGAG | CA2810128081 | SCN4A | c.492_493insTCTTTTTTTAATGATACGGCGACC (p.Phe164_Thr165insSerPhePheAsnAspThrAlaThr)
| |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAAACCG | CA2810128080 | SCN4A | c.492_493insGGTTTTTTTTTTAATGATACGGCGACC (p.Phe164_Thr165insGlyPhePhePheAsnAspThrAlaThr)
| |
17 | g.63971841dup | CA985437901 | SCN4A | c.492dup (p.Thr165HisfsTer7)
| gnomAD v3 gnomAD v4 |
17 | g.63971842_63971844del | CA627150686 | SCN4A | c.490_492del (p.Phe164del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGT | CA2639310399 | SCN4A | c.491_492insACGGCGAC (p.Phe164LeufsTer?)
| gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATC | CA985437912 | SCN4A | c.491_492insGATACGGCGAC (p.Phe164LeufsTer?)
| gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATT | CA985437936 | SCN4A | c.491_492insAATGATACGGCGAC (p.Phe164LeufsTer?)
| gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTA | CA985437933 | SCN4A | c.491_492insTAATGATACGGCGAC (p.Phe164_Thr165insAsnAspThrAlaThr)
| gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAA | CA985437920 | SCN4A | c.491_492insTTAATGATACGGCGAC (p.Thr165Ter)
| gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATGAAA | CA2639310403 | SCN4A | c.491_492insTTTCATGATACGGCGAC (p.Thr165PhefsTer?)
| gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAA | CA627150688 | SCN4A | c.491_492insTTTAATGATACGGCGAC (p.Thr165LeufsTer?)
| gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAA | CA627150689 | SCN4A | c.491_492insTTTTAATGATACGGCGAC (p.Phe164_Thr165insPheAsnAspThrAlaThr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGAATCATTAAAA | CA2639310397 | SCN4A | c.491_492insTTTTAATGATTCGGCGAC (p.Phe164_Thr165insPheAsnAspSerAlaThr)
| gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAAA | CA627150690 | SCN4A | c.491_492insTTTTTAATGATACGGCGAC (p.Thr165PhefsTer2)
| gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAAAA | CA985437917 | SCN4A | c.491_492insTTTTTTAATGATACGGCGAC (p.Thr165PhefsTer?)
| gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAGAAA | CA2596764901 | SCN4A | c.491_492insTTTCTTTAATGATACGGCGAC (p.Phe164_Thr165insPhePheAsnAspThrAlaThr)
| gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAAAAA | CA2639310391 | SCN4A | c.491_492insTTTTTTTAATGATACGGCGAC (p.Phe164_Thr165insPhePheAsnAspThrAlaThr)
| gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAAAAAA | CA627150691 | SCN4A | c.491_492insTTTTTTTTAATGATACGGCGAC (p.Thr165PhefsTer3)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAA | CA627150693 | SCN4A | c.491_492insTTTTTTTTTAATGATACGGCGAC (p.Thr165PhefsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAAA | CA2639310389 | SCN4A | c.491_492insTTTTTTTTTTAATGATACGGCGAC (p.Phe164_Thr165insPhePhePheAsnAspThrAlaThr)
| gnomAD v4 |
17 | g.63971841_63971842insGTCGCCTTATCATTAAAAAAAAAA | CA2639310385 | SCN4A | c.491_492insTTTTTTTTTTAATGATAAGGCGAC (p.Phe164_Thr165insPhePhePheAsnAspLysAlaThr)
| gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAAAA | CA2639310387 | SCN4A | c.491_492insTTTTTTTTTTTAATGATACGGCGAC (p.Thr165PhefsTer4)
| gnomAD v4 |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAAAAA | CA2810128083 | SCN4A | c.491_492insTTTTTTTTTTTTAATGATACGGCGAC (p.Thr165PhefsTer?)
| |
17 | g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAAAACGA | CA2810128082 | SCN4A | c.491_492insTCGTTTTTTTTTTTAATGATACGGCGAC (p.Thr165ArgfsTer5)
| |
17 | g.63971842A>C | CA400639314 | SCN4A | c.491T>G (p.Phe164Cys)
| |
17 | g.63971842A>G | CA400639315 | SCN4A | c.491T>C (p.Phe164Ser)
| gnomAD v3 gnomAD v4 |
17 | g.63971842A>T | CA400639316 | SCN4A | c.491T>A (p.Phe164Tyr)
| |
17 | g.63971842_63971843del | CA627150692 | SCN4A | c.490_491del (p.Phe164HisfsTer7)
| gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971842_63971846del | CA2639310383 | SCN4A | c.487_491del (p.Thr163HisfsTer7)
| gnomAD v4 |
17 | g.63971842_63971843insTCATTAAAAAG | CA2639310421 | SCN4A | c.490_491insCTTTTTAATGA (p.Phe164SerfsTer3)
| gnomAD v4 |
17 | g.63971842_63971843insTCATTAAAAAAAGAGG | CA2810128085 | SCN4A | c.490_491insCCTCTTTTTTTAATGA (p.Phe164SerfsTer13)
| |
17 | g.63971842_63971843insTCATTAAAAAAAGGGC | CA2639310418 | SCN4A | c.490_491insGCCCTTTTTTTAATGA (p.Phe164CysfsTer13)
| gnomAD v4 |
17 | g.63971842_63971843insTCATTAAAAAAAAAAAC | CA2810128084 | SCN4A | c.490_491insGTTTTTTTTTTTAATGA (p.Phe164CysfsTer5)
| |
17 | g.63971843A>C | CA400639318 | SCN4A | c.490T>G (p.Phe164Val)
| gnomAD v3 gnomAD v4 |
17 | g.63971843A>G | CA400639319 | SCN4A | c.490T>C (p.Phe164Leu)
| |
17 | g.63971843A>T | CA400639317 | SCN4A | c.490T>A (p.Phe164Ile)
| gnomAD v4 |
17 | g.63971843_63971845del | CA2639310422 | SCN4A | c.488_490del (p.Thr163_Phe164delinsIle)
| gnomAD v4 |
17 | g.63971843_63971844insAAAAG | CA2639310446 | SCN4A | c.489_490insCTTTT (p.Phe164LeufsTer?)
| gnomAD v4 |
17 | g.63971843_63971844insAAAAAG | CA2639310470 | SCN4A | c.489_490insCTTTTT (p.Thr163_Phe164insLeuPhe)
| gnomAD v4 |
17 | g.63971843_63971844insAAAAAT | CA2810128090 | SCN4A | c.489_490insATTTTT (p.Thr163_Phe164insIlePhe)
| |
17 | g.63971843_63971844insAAAGAG | CA985437946 | SCN4A | c.489_490insCTCTTT (p.Thr163_Phe164insLeuPhe)
| gnomAD v3 gnomAD v4 |
17 | g.63971843_63971844insAAAAAAAAAC | CA2810128088 | SCN4A | c.489_490insGTTTTTTTTT (p.Phe164ValfsTer11)
| |
17 | g.63971843_63971844insAAAAAGGGAC | CA2639310458 | SCN4A | c.489_490insGTCCCTTTTT (p.Phe164ValfsTer11)
| gnomAD v4 |
17 | g.63971843_63971844insAAAAATGGAC | CA2810128086 | SCN4A | c.489_490insGTCCATTTTT (p.Phe164ValfsTer11)
| |
17 | g.63971843_63971844insAAAAAAAAAAAGAC | CA2810128089 | SCN4A | c.489_490insGTCTTTTTTTTTTT (p.Phe164ValfsTer?)
| |
17 | g.63971843_63971844insAAAAAAAAACGGAC | CA2810128087 | SCN4A | c.489_490insGTCCGTTTTTTTTT (p.Phe164ValfsTer?)
| |
17 | g.63971844G>A | CA501227042 | SCN4A | c.489C>T (p.Thr163=)
| gnomAD v4 |
17 | g.63971844G>C | CA8710127 | SCN4A | c.489C>G (p.Thr163=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971844G= | CA2270175554 | SCN4A | c.489C= (p.Thr163=)
| |
17 | g.63971844G>T | CA501227043 | SCN4A | c.489C>A (p.Thr163=)
| |
17 | g.63971844_63971845insTC | CA627150694 | SCN4A | c.488_489insGA (p.Phe164ThrfsTer?)
| gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971845G>A | CA400639321 | SCN4A | c.488C>T (p.Thr163Ile)
| |
17 | g.63971845G>C | CA400639322 | SCN4A | c.488C>G (p.Thr163Ser)
| gnomAD v3 gnomAD v4 |
17 | g.63971845G>T | CA400639324 | SCN4A | c.488C>A (p.Thr163Asn)
| |
17 | g.63971846T>A | CA400639329 | SCN4A | c.487A>T (p.Thr163Ser)
| |
17 | g.63971846T>C | CA400639327 | SCN4A | c.487A>G (p.Thr163Ala)
| gnomAD v3 gnomAD v4 |
17 | g.63971846T>G | CA400639326 | SCN4A | c.487A>C (p.Thr163Pro)
| |
17 | g.63971846T= | CA2270175556 | SCN4A | c.487A= (p.Thr163=)
| |
17 | g.63971846_63971848del | CA2810128091 | SCN4A | c.485_487del (p.Tyr162_Thr163delinsSer)
| |
17 | g.63971846_63971849del | CA2639310475 | SCN4A | c.484_487del (p.Tyr162ProfsTer?)
| gnomAD v4 |
17 | g.63971846_63971849delinsTGTA | CA2270175555 | SCN4A | c.484_487delinsTACA (p.Tyr162=)
| |
17 | g.63971846_63971847insC | CA985437976 | SCN4A | c.486_487insG (p.Thr163AspfsTer9)
| gnomAD v3 gnomAD v4 |
17 | g.63971846_63971847insCGCA | CA2639310488 | SCN4A | c.486_487insTGCG (p.Thr163CysfsTer10)
| gnomAD v4 |
17 | g.63971846_63971847insCGCC | CA627150695 | SCN4A | c.486_487insGGCG (p.Thr163GlyfsTer10)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971846_63971847insCGTC | CA2639310484 | SCN4A | c.486_487insGACG (p.Thr163AspfsTer10)
| gnomAD v4 |
17 | g.63971846_63971847insCGTG | CA2639310482 | SCN4A | c.486_487insCACG (p.Thr163HisfsTer10)
| gnomAD v4 |
17 | g.63971847G>A | CA8710128 | SCN4A | c.486C>T (p.Tyr162=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971847G>C | CA400639331 | SCN4A | c.486C>G (p.Tyr162Ter)
| |
17 | g.63971847G= | CA2270175557 | SCN4A | c.486C= (p.Tyr162=)
| |
17 | g.63971847G>T | CA400639333 | SCN4A | c.486C>A (p.Tyr162Ter)
| |
17 | g.63971847_63971848insGCCG | CA985437970 | SCN4A | c.486_487insGGCC (p.Thr163GlyfsTer10)
| gnomAD v3 gnomAD v4 |
17 | g.63971847_63971849del | CA627150696 | SCN4A | c.484_486del (p.Tyr162del)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63971848del | CA985437981 | SCN4A | c.485del (p.Tyr162SerfsTer?)
| gnomAD v3 gnomAD v4 |
17 | g.63971848T>A | CA400639334 | SCN4A | c.485A>T (p.Tyr162Phe)
| gnomAD v3 gnomAD v4 |
17 | g.63971848T>C | CA400639336 | SCN4A | c.485A>G (p.Tyr162Cys)
| |
17 | g.63971848T>G | CA400639337 | SCN4A | c.485A>C (p.Tyr162Ser)
| gnomAD v3 gnomAD v4 |
17 | g.63971848_63971849del | CA985437988 | SCN4A | c.484_485del (p.Tyr162HisfsTer9)
| gnomAD v3 gnomAD v4 |
17 | g.63971848_63971852del | CA2639310496 | SCN4A | c.483-2_485del
| gnomAD v4 |
17 | g.63971848_63971882del | CA2639310497 | SCN4A | c.483-32_485del
| gnomAD v4 |
17 | g.63971848_63971849insCGA | CA985437991 | SCN4A | c.484_485insTCG (p.Tyr162delinsPheAsp)
| gnomAD v3 gnomAD v4 |
17 | g.63971848_63971849insCTCATTAAA | CA985437992 | SCN4A | c.484_485insTTTAATGAG (p.Tyr162PhefsTer2)
| gnomAD v3 gnomAD v4 |
17 | g.63971849del | CA2639310511 | SCN4A | c.484del (p.Tyr162ThrfsTer?)
| gnomAD v4 |
17 | g.63971849A= | CA2270175558 | SCN4A | c.484T= (p.Tyr162=)
| |
17 | g.63971849A>C | CA400639339 | SCN4A | c.484T>G (p.Tyr162Asp)
| |
17 | g.63971849A>G | CA400639343 | SCN4A | c.484T>C (p.Tyr162His)
| gnomAD v3 gnomAD v4 |
17 | g.63971849A>T | CA400639341 | SCN4A | c.484T>A (p.Tyr162Asn)
| |
17 | g.63971849_63971850insTCATTAAAAAAA | CA2810128092 | SCN4A | c.484_485insTTTTTTAATGAT (p.Tyr162PhefsTer3)
| |
17 | g.63971849_63971857del | CA2639310509 | SCN4A | c.483-7_484del
| gnomAD v4 |
17 | g.63971849_63971850insT | CA985438001 | SCN4A | c.483_484insA (p.Tyr162IlefsTer10)
| gnomAD v3 gnomAD v4 |
17 | g.63971850C>A | CA400639345 | SCN4A | c.483G>T (p.Glu161Asp)
| |
17 | g.63971850C= | CA2270175559 | SCN4A | c.483G= (p.Glu161=)
| |
17 | g.63971850C>G | CA400639347 | SCN4A | c.483G>C (p.Glu161Asp)
| gnomAD v4 |
17 | g.63971850C>T | CA501227044 | SCN4A | c.483G>A (p.Glu161=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971850_63971851del | CA985437999 | SCN4A | c.483-1_483del
| gnomAD v4 |
17 | g.63971851dup | CA627150697 | SCN4A | c.483dup
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63971850_63971858del | CA985438002 | SCN4A | c.483-8_483del
| gnomAD v3 gnomAD v4 |
17 | g.63971850_63971859del | CA985438000 | SCN4A | c.483-9_483del
| gnomAD v3 gnomAD v4 |
17 | g.63971851C>A | CA400639349 | SCN4A | c.483-1G>T (n.483-1G>T)
| gnomAD v3 gnomAD v4 |
17 | g.63971851C= | CA2270175561 | SCN4A | c.483-1G= (n.483-1G=)
| |
17 | g.63971851C>G | CA400639351 | SCN4A | c.483-1G>C (n.483-1G>C)
| |
17 | g.63971851C>T | CA400639353 | SCN4A | c.483-1G>A (n.483-1G>A)
| |
17 | g.63971851_63971855del | CA2810128093 | SCN4A | c.483-5_483-1del (n.483-5_483-1del)
| |
17 | g.63971851_63971858del | CA985438003 | SCN4A | c.483-8_483-1del (n.483-8_483-1del)
| gnomAD v3 gnomAD v4 |
17 | g.63971851_63971859del | CA2810128094 | SCN4A | c.483-9_483-1del (n.483-9_483-1del)
| |
17 | g.63971851_63971859delinsCTGGGGGGG | CA2270175560 | SCN4A | c.483-9_483-1delinsCCCCCCCAG (n.483-9_483-1delinsCCCCCCCAG)
| |
17 | g.63971851_63971864del | CA627150698 | SCN4A | c.483-14_483-1del (n.483-14_483-1del)
| gnomAD v2 gnomAD v4 |
17 | g.63971851_63971852insAT | CA985438012 | SCN4A | c.483-2_483-1insAT (n.483-2_483-1insAT)
| gnomAD v3 gnomAD v4 |
17 | g.63971851_63971852insACACCACCA | CA2639310547 | SCN4A | c.483-2_483-1insTGGTGGTGT (n.483-2_483-1insTGGTGGTGT)
| gnomAD v4 |
17 | g.63971851_63971852insATTAAAAAAA | CA985438006 | SCN4A | c.483-2_483-1insTTTTTTTAAT (n.483-2_483-1insTTTTTTTAAT)
| gnomAD v3 gnomAD v4 |
17 | g.63971851_63971852insATTAAAAAAAG | CA2639310544 | SCN4A | c.483-2_483-1insCTTTTTTTAAT (n.483-2_483-1insCTTTTTTTAAT)
| gnomAD v4 |
17 | g.63971851_63971852insATTAAAAAAAAA | CA2639310546 | SCN4A | c.483-2_483-1insTTTTTTTTTAAT (n.483-2_483-1insTTTTTTTTTAAT)
| gnomAD v4 |
17 | g.63971852T>A | CA400639355 | SCN4A | c.483-2A>T (n.483-2A>T)
| |
17 | g.63971852T>C | CA400639357 | SCN4A | c.483-2A>G (n.483-2A>G)
| |
17 | g.63971852T>G | CA400639359 | SCN4A | c.483-2A>C (n.483-2A>C)
| |
17 | g.63971852dup | CA2270175562 | SCN4A | c.483-2dup (n.483-2dup)
| ClinVar dbSNP |
17 | g.63971852_63971853delinsTG | CA2270175563 | SCN4A | c.483-3_483-2delinsCA (n.483-3_483-2delinsCA)
| |
17 | g.63971852_63971855del | CA2639310537 | SCN4A | c.483-5_483-2del (n.483-5_483-2del)
| gnomAD v4 |
17 | g.63971852_63971857del | CA985438007 | SCN4A | c.483-7_483-2del (n.483-7_483-2del)
| gnomAD v3 gnomAD v4 |
17 | g.63971852_63971858del | CA985438008 | SCN4A | c.483-8_483-2del (n.483-8_483-2del)
| gnomAD v3 gnomAD v4 |
17 | g.63971852_63971859del | CA627150699 | SCN4A | c.483-9_483-2del (n.483-9_483-2del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971852_63971853insTAAAAAAA | CA985438024 | SCN4A | c.483-3_483-2insTTTTTTTA (n.483-3_483-2insTTTTTTTA)
| gnomAD v3 gnomAD v4 |
17 | g.63971853G>A | CA8710132 | SCN4A | c.483-3C>T (n.483-3C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971853G>C | CA292972707 | SCN4A | c.483-3C>G (n.483-3C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971853G= | CA2270175564 | SCN4A | c.483-3C= (n.483-3C=)
| |
17 | g.63971853G>T | CA8710131 | SCN4A | c.483-3C>A (n.483-3C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971853_63971859del | CA985438033 | SCN4A | c.483-9_483-3del (n.483-9_483-3del)
| gnomAD v3 gnomAD v4 |
17 | g.63971859dup | CA8710129 | SCN4A | c.483-3dup (n.483-3dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63971859del | CA8710130 | SCN4A | c.483-3del (n.483-3del)
| ClinVar dbSNP ExAC gnomAD v4 |
17 | g.63971855_63971859del | CA985438028 | SCN4A | c.483-7_483-3del (n.483-7_483-3del)
| gnomAD v3 gnomAD v4 |
17 | g.63971854_63971859del | CA985438031 | SCN4A | c.483-8_483-3del (n.483-8_483-3del)
| gnomAD v3 gnomAD v4 |
17 | g.63971853_63971865del | CA985438044 | SCN4A | c.483-15_483-3del (n.483-15_483-3del)
| gnomAD v4 |
17 | g.63971855_63971865del | CA985438039 | SCN4A | c.483-13_483-3del (n.483-13_483-3del)
| gnomAD v3 gnomAD v4 |
17 | g.63971853_63971854insCCA | CA2639310595 | SCN4A | c.483-4_483-3insTGG (n.483-4_483-3insTGG)
| gnomAD v4 |
17 | g.63971853_63971854insTGTGTGCAAGTGT | CA2810128095 | SCN4A | c.483-4_483-3insACACTTGCACACA (n.483-4_483-3insACACTTGCACACA)
| |
17 | g.63971854G>A | CA8710135 | SCN4A | c.483-4C>T (n.483-4C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971854G>C | CA8710133 | SCN4A | c.483-4C>G (n.483-4C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971854G= | CA2270175565 | SCN4A | c.483-4C= (n.483-4C=)
| |
17 | g.63971854G>T | CA8710134 | SCN4A | c.483-4C>A (n.483-4C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971855G>A | CA8710137 | SCN4A | c.483-5C>T (n.483-5C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971855G>C | CA245098 | SCN4A | c.483-5C>G (n.483-5C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971855G= | CA2270175566 | SCN4A | c.483-5C= (n.483-5C=)
| |
17 | g.63971855G>T | CA8710136 | SCN4A | c.483-5C>A (n.483-5C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971855_63971856insCTAATTTTT | CA2639310608 | SCN4A | c.483-6_483-5insAAAAATTAG (n.483-6_483-5insAAAAATTAG)
| gnomAD v4 |
17 | g.63971856G>A | CA627150700 | SCN4A | c.483-6C>T (n.483-6C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971856G>C | CA8710139 | SCN4A | c.483-6C>G (n.483-6C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971856G= | CA2270175567 | SCN4A | c.483-6C= (n.483-6C=)
| |
17 | g.63971856G>T | CA8710138 | SCN4A | c.483-6C>A (n.483-6C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971857G>A | CA8710140 | SCN4A | c.483-7C>T (n.483-7C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971857G>C | CA2639310619 | SCN4A | c.483-7C>G (n.483-7C>G)
| gnomAD v4 |
17 | g.63971857G= | CA2270175568 | SCN4A | c.483-7C= (n.483-7C=)
| |
17 | g.63971857G>T | CA2639310625 | SCN4A | c.483-7C>A (n.483-7C>A)
| gnomAD v4 |
17 | g.63971857_63971866del | CA985438082 | SCN4A | c.483-16_483-7del (n.483-16_483-7del)
| gnomAD v3 gnomAD v4 |
17 | g.63971858G>A | CA8710141 | SCN4A | c.483-8C>T (n.483-8C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971858G>C | CA2810128096 | SCN4A | c.483-8C>G (n.483-8C>G)
| |
17 | g.63971858G= | CA2270175569 | SCN4A | c.483-8C= (n.483-8C=)
| |
17 | g.63971858G>T | CA2596764902 | SCN4A | c.483-8C>A (n.483-8C>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63971858_63971859insATTAAA | CA985438094 | SCN4A | c.483-9_483-8insTTTAAT (n.483-9_483-8insTTTAAT)
| gnomAD v3 gnomAD v4 |
17 | g.63971859G>A | CA8710142 | SCN4A | c.483-9C>T (n.483-9C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971859G= | CA2270175570 | SCN4A | c.483-9C= (n.483-9C=)
| |
17 | g.63971859G>T | CA8710143 | SCN4A | c.483-9C>A (n.483-9C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971859_63971860insTATCATTAAAA | CA985438104 | SCN4A | c.483-10_483-9insTTTTAATGATA (n.483-10_483-9insTTTTAATGATA)
| gnomAD v3 gnomAD v4 |
17 | g.63971859_63971860insCCGAATCATTAAAA | CA2810128097 | SCN4A | c.483-10_483-9insTTTTAATGATTCGG (n.483-10_483-9insTTTTAATGATTCGG)
| |
17 | g.63971859_63971860insCCGTATCATTAAAA | CA985438103 | SCN4A | c.483-10_483-9insTTTTAATGATACGG (n.483-10_483-9insTTTTAATGATACGG)
| gnomAD v3 gnomAD v4 |
17 | g.63971860_63971861insAA | CA985438116 | SCN4A | c.483-10_483-9insTT (n.483-10_483-9insTT)
| gnomAD v3 gnomAD v4 |
17 | g.63971860_63971861insAAA | CA985438106 | SCN4A | c.483-10_483-9insTTT (n.483-10_483-9insTTT)
| gnomAD v3 gnomAD v4 |
17 | g.63971860_63971861insAAAA | CA985438110 | SCN4A | c.483-10_483-9insTTTT (n.483-10_483-9insTTTT)
| gnomAD v3 gnomAD v4 |
17 | g.63971860_63971861insAAAAAA | CA2810128099 | SCN4A | c.483-10_483-9insTTTTTT (n.483-10_483-9insTTTTTT)
| |
17 | g.63971860_63971861insTTAAAAA | CA627150702 | SCN4A | c.483-10_483-9insTTTTAAT (n.483-10_483-9insTTTTAAT)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971860_63971861insTTAAAAAAA | CA985438118 | SCN4A | c.483-10_483-9insTTTTTTAAT (n.483-10_483-9insTTTTTTAAT)
| gnomAD v3 gnomAD v4 |
17 | g.63971860_63971861insTTAAAAAAAA | CA985438102 | SCN4A | c.483-10_483-9insTTTTTTTAAT (n.483-10_483-9insTTTTTTTAAT)
| gnomAD v3 gnomAD v4 |
17 | g.63971860_63971861insATCATTAAAAA | CA985438109 | SCN4A | c.483-10_483-9insTTTTAATGATT (n.483-10_483-9insTTTTAATGATT)
| gnomAD v3 gnomAD v4 |
17 | g.63971860_63971861insATCATTAAAAAAA | CA2639310658 | SCN4A | c.483-10_483-9insTTTTTTAATGATT (n.483-10_483-9insTTTTTTAATGATT)
| gnomAD v4 |
17 | g.63971860_63971861insATCATTAAAAAAAA | CA2810128098 | SCN4A | c.483-10_483-9insTTTTTTTAATGATT (n.483-10_483-9insTTTTTTTAATGATT)
| |
17 | g.63971860_63971861insATCAT | CA2537985439 | SCN4A | c.483-11_483-10insATGAT (n.483-11_483-10insATGAT)
| gnomAD v4 |
17 | g.63971861G>A | CA627150703 | SCN4A | c.483-11C>T (n.483-11C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971861G= | CA2270175571 | SCN4A | c.483-11C= (n.483-11C=)
| |
17 | g.63971861G>T | CA2639310703 | SCN4A | c.483-11C>A (n.483-11C>A)
| gnomAD v4 |
17 | g.63971861_63971862insGAAAAAA | CA2639310712 | SCN4A | c.483-12_483-11insTTTTTTC (n.483-12_483-11insTTTTTTC)
| gnomAD v4 |
17 | g.63971861_63971862insTAAAAAA | CA985438126 | SCN4A | c.483-12_483-11insTTTTTTA (n.483-12_483-11insTTTTTTA)
| gnomAD v3 gnomAD v4 |
17 | g.63971861_63971862insTAAGAAA | CA985438127 | SCN4A | c.483-12_483-11insTTTCTTA (n.483-12_483-11insTTTCTTA)
| gnomAD v3 gnomAD v4 |
17 | g.63971862A>G | CA2576356212 | SCN4A | c.483-12T>C (n.483-12T>C)
| |
17 | g.63971862_63971863insAAA | CA985438123 | SCN4A | c.483-12_483-11insTTT (n.483-12_483-11insTTT)
| gnomAD v3 gnomAD v4 |
17 | g.63971862_63971863insAAAA | CA985438124 | SCN4A | c.483-12_483-11insTTTT (n.483-12_483-11insTTTT)
| gnomAD v3 gnomAD v4 |
17 | g.63971862_63971863insAAAAAA | CA985438125 | SCN4A | c.483-12_483-11insTTTTTT (n.483-12_483-11insTTTTTT)
| gnomAD v3 gnomAD v4 |
17 | g.63971862_63971863insAAAG | CA2810128100 | SCN4A | c.483-13_483-12insCTTT (n.483-13_483-12insCTTT)
| |
17 | g.63971863G>A | CA985438129 | SCN4A | c.483-13C>T (n.483-13C>T)
| gnomAD v3 gnomAD v4 |
17 | g.63971863G>C | CA2639310720 | SCN4A | c.483-13C>G (n.483-13C>G)
| gnomAD v4 |
17 | g.63971863_63971865del | CA985438131 | SCN4A | c.483-15_483-13del (n.483-15_483-13del)
| gnomAD v3 gnomAD v4 |
17 | g.63971864_63971865del | CA985438133 | SCN4A | c.483-14_483-13del (n.483-14_483-13del)
| gnomAD v3 gnomAD v4 |
17 | g.63971864G>C | CA985438135 | SCN4A | c.483-14C>G (n.483-14C>G)
| gnomAD v3 gnomAD v4 |
17 | g.63971864G>T | CA985438140 | SCN4A | c.483-14C>A (n.483-14C>A)
| gnomAD v3 gnomAD v4 |
17 | g.63971865G>A | CA2639310728 | SCN4A | c.483-15C>T (n.483-15C>T)
| gnomAD v4 |
17 | g.63971865G>T | CA2639310729 | SCN4A | c.483-15C>A (n.483-15C>A)
| gnomAD v4 |
17 | g.63971866C>A | CA985438146 | SCN4A | c.483-16G>T (n.483-16G>T)
| gnomAD v3 gnomAD v4 |
17 | g.63971866C= | CA2270175572 | SCN4A | c.483-16G= (n.483-16G=)
| |
17 | g.63971866C>T | CA2270175573 | SCN4A | c.483-16G>A (n.483-16G>A)
| ClinVar dbSNP gnomAD v4 |
17 | g.63971866_63971867insATTAAAAAAAAAAA | CA985438147 | SCN4A | c.483-17_483-16insTTTTTTTTTTTAAT (n.483-17_483-16insTTTTTTTTTTTAAT)
| gnomAD v4 |
17 | g.63971867C>A | CA985438148 | SCN4A | c.483-17G>T (n.483-17G>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63971867C= | CA2270175574 | SCN4A | c.483-17G= (n.483-17G=)
| |
17 | g.63971867C>T | CA501227045 | SCN4A | c.483-17G>A (n.483-17G>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63971868G>A | CA8710144 | SCN4A | c.483-18C>T (n.483-18C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971868G>C | CA2639310749 | SCN4A | c.483-18C>G (n.483-18C>G)
| gnomAD v4 |
17 | g.63971868G= | CA2270175575 | SCN4A | c.483-18C= (n.483-18C=)
| |
17 | g.63971868G>T | CA2639310757 | SCN4A | c.483-18C>A (n.483-18C>A)
| gnomAD v4 |
17 | g.63971868_63971869insTATCATTAAAAAAAAAAAAG | CA627150704 | SCN4A | c.483-18_483-17insTTTTTTTTTTTTAATGATAC (n.483-18_483-17insTTTTTTTTTTTTAATGATAC)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63971868_63971869insTATCATTAAAAAAAAAAAAA | CA2639310766 | SCN4A | c.483-19_483-18insTTTTTTTTTTTTTAATGATA (n.483-19_483-18insTTTTTTTTTTTTTAATGATA)
| gnomAD v4 |
17 | g.63971868_63971869insTATCATTAAAAAAAAAACAA | CA2810128101 | SCN4A | c.483-19_483-18insTTGTTTTTTTTTTAATGATA (n.483-19_483-18insTTGTTTTTTTTTTAATGATA)
| |
17 | g.63971868_63971869insTATCATTAAAAAAAAAAACA | CA2810128102 | SCN4A | c.483-19_483-18insTGTTTTTTTTTTTAATGATA (n.483-19_483-18insTGTTTTTTTTTTTAATGATA)
| |
17 | g.63971869G>A | CA2270175576 | SCN4A | c.483-19C>T (n.483-19C>T)
| dbSNP gnomAD v4 |
17 | g.63971869G= | CA2270175577 | SCN4A | c.483-19C= (n.483-19C=)
| |
17 | g.63971869G>T | CA985438149 | SCN4A | c.483-19C>A (n.483-19C>A)
| gnomAD v3 gnomAD v4 |
17 | g.63971870C>A | CA8710146 | SCN4A | c.483-20G>T (n.483-20G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63971870C= | CA2270175578 | SCN4A | c.483-20G= (n.483-20G=)
| |
17 | g.63971870C>G | CA985438151 | SCN4A | c.483-20G>C (n.483-20G>C)
| gnomAD v3 gnomAD v4 |
17 | g.63971870C>T | CA8710145 | SCN4A | c.483-20G>A (n.483-20G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971871C>A | CA2639310779 | SCN4A | c.483-21G>T (n.483-21G>T)
| gnomAD v4 |
17 | g.63971871C= | CA2270175579 | SCN4A | c.483-21G= (n.483-21G=)
| |
17 | g.63971871C>G | CA985438154 | SCN4A | c.483-21G>C (n.483-21G>C)
| gnomAD v3 gnomAD v4 |
17 | g.63971871C>T | CA8710147 | SCN4A | c.483-21G>A (n.483-21G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971872G>A | CA8710148 | SCN4A | c.483-22C>T (n.483-22C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971872G>C | CA985438155 | SCN4A | c.483-22C>G (n.483-22C>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63971872G= | CA2270175580 | SCN4A | c.483-22C= (n.483-22C=)
| |
17 | g.63971872G>T | CA2639310787 | SCN4A | c.483-22C>A (n.483-22C>A)
| gnomAD v4 |
17 | g.63971874dup | CA2639310794 | SCN4A | c.483-22dup (n.483-22dup)
| gnomAD v4 |
17 | g.63971875_63971892del | CA2639310786 | SCN4A | c.483-39_483-22del (n.483-39_483-22del)
| gnomAD v4 |
17 | g.63971873G>A | CA8710149 | SCN4A | c.483-23C>T (n.483-23C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971873G= | CA2270175581 | SCN4A | c.483-23C= (n.483-23C=)
| |
17 | g.63971873G>T | CA2639310799 | SCN4A | c.483-23C>A (n.483-23C>A)
| gnomAD v4 |
17 | g.63971874G>A | CA985438157 | SCN4A | c.483-24C>T (n.483-24C>T)
| gnomAD v3 gnomAD v4 |
17 | g.63971874G>T | CA2639310825 | SCN4A | c.483-24C>A (n.483-24C>A)
| gnomAD v4 |
17 | g.63971875del | CA2639310843 | SCN4A | c.483-25del (n.483-25del)
| gnomAD v4 |
17 | g.63971875A= | CA2270175582 | SCN4A | c.483-25T= (n.483-25T=)
| |
17 | g.63971875A>C | CA2270175583 | SCN4A | c.483-25T>G (n.483-25T>G)
| dbSNP gnomAD v4 |
17 | g.63971875A>G | CA8710150 | SCN4A | c.483-25T>C (n.483-25T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971875A>T | CA985438161 | SCN4A | c.483-25T>A (n.483-25T>A)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63971876C>A | CA985438163 | SCN4A | c.483-26G>T (n.483-26G>T)
| gnomAD v3 gnomAD v4 |
17 | g.63971876C= | CA2270175584 | SCN4A | c.483-26G= (n.483-26G=)
| |
17 | g.63971876C>G | CA2639310851 | SCN4A | c.483-26G>C (n.483-26G>C)
| gnomAD v4 |
17 | g.63971876C>T | CA2270175585 | SCN4A | c.483-26G>A (n.483-26G>A)
| dbSNP gnomAD v4 |
17 | g.63971877A>C | CA985438166 | SCN4A | c.483-27T>G (n.483-27T>G)
| gnomAD v3 gnomAD v4 |
17 | g.63971877A>G | CA2639310859 | SCN4A | c.483-27T>C (n.483-27T>C)
| gnomAD v4 |
17 | g.63971877A>T | CA2639310886 | SCN4A | c.483-27T>A (n.483-27T>A)
| gnomAD v4 |
17 | g.63971878G>A | CA2270175587 | SCN4A | c.483-28C>T (n.483-28C>T)
| dbSNP gnomAD v4 |
17 | g.63971878G= | CA2270175586 | SCN4A | c.483-28C= (n.483-28C=)
| |
17 | g.63971879G>A | CA2639310893 | SCN4A | c.483-29C>T (n.483-29C>T)
| gnomAD v4 |
17 | g.63971879G= | CA2270175588 | SCN4A | c.483-29C= (n.483-29C=)
| |
17 | g.63971879G>T | CA2270175589 | SCN4A | c.483-29C>A (n.483-29C>A)
| dbSNP gnomAD v4 |
17 | g.63971880C>A | CA627150715 | SCN4A | c.483-30G>T (n.483-30G>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63971880C= | CA2270175590 | SCN4A | c.483-30G= (n.483-30G=)
| |
17 | g.63971880C>G | CA985438169 | SCN4A | c.483-30G>C (n.483-30G>C)
| gnomAD v3 gnomAD v4 |
17 | g.63971880C>T | CA2639310900 | SCN4A | c.483-30G>A (n.483-30G>A)
| gnomAD v4 |
17 | g.63971881A= | CA2270175591 | SCN4A | c.483-31T= (n.483-31T=)
| |
17 | g.63971881A>C | CA2639310907 | SCN4A | c.483-31T>G (n.483-31T>G)
| gnomAD v4 |
17 | g.63971881A>G | CA8710151 | SCN4A | c.483-31T>C (n.483-31T>C)
| dbSNP ExAC gnomAD v2 |
17 | g.63971882T>C | CA2810128103 | SCN4A | c.483-32A>G (n.483-32A>G)
| |
17 | g.63971882T>G | CA985438171 | SCN4A | c.483-32A>C (n.483-32A>C)
| gnomAD v3 gnomAD v4 |
17 | g.63971883G>T | CA2639310911 | SCN4A | c.483-33C>A (n.483-33C>A)
| gnomAD v4 |
17 | g.63971884T>G | CA985438172 | SCN4A | c.483-34A>C (n.483-34A>C)
| gnomAD v3 gnomAD v4 |
17 | g.63971885C>A | CA2639310914 | SCN4A | c.483-35G>T (n.483-35G>T)
| gnomAD v4 |
17 | g.63971885C>G | CA2639310915 | SCN4A | c.483-35G>C (n.483-35G>C)
| gnomAD v4 |
17 | g.63971885C>T | CA985438174 | SCN4A | c.483-35G>A (n.483-35G>A)
| gnomAD v3 gnomAD v4 |
17 | g.63971886A>C | CA985438178 | SCN4A | c.483-36T>G (n.483-36T>G)
| gnomAD v3 gnomAD v4 |
17 | g.63971886A>G | CA2639310917 | SCN4A | c.483-36T>C (n.483-36T>C)
| gnomAD v4 |
17 | g.63971887C= | CA2270175592 | SCN4A | c.483-37G= (n.483-37G=)
| |
17 | g.63971887C>G | CA985438182 | SCN4A | c.483-37G>C (n.483-37G>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63971887C>T | CA8710152 | SCN4A | c.483-37G>A (n.483-37G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63971888C>A | CA2639310923 | SCN4A | c.483-38G>T (n.483-38G>T)
| gnomAD v4 |
17 | g.63971888C>T | CA2639310925 | SCN4A | c.483-38G>A (n.483-38G>A)
| gnomAD v4 |
17 | g.63971889T>C | CA2270175594 | SCN4A | c.483-39A>G (n.483-39A>G)
| dbSNP |
17 | g.63971889T= | CA2270175593 | SCN4A | c.483-39A= (n.483-39A=)
| |
17 | g.63971889_63971891del | CA2639310927 | SCN4A | c.483-41_483-39del (n.483-41_483-39del)
| gnomAD v4 |
17 | g.63971890G>A | CA2270175596 | SCN4A | c.483-40C>T (n.483-40C>T)
| dbSNP |
17 | g.63971890G= | CA2270175595 | SCN4A | c.483-40C= (n.483-40C=)
| |
17 | g.63971890G>T | CA2639310930 | SCN4A | c.483-40C>A (n.483-40C>A)
| gnomAD v4 |
17 | g.63971891G>T | CA2639310934 | SCN4A | c.483-41C>A (n.483-41C>A)
| gnomAD v4 |
17 | g.63971892G>A | CA8710153 | SCN4A | c.483-42C>T (n.483-42C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971892G>C | CA2576356213 | SCN4A | c.483-42C>G (n.483-42C>G)
| |
17 | g.63971892G= | CA2270175597 | SCN4A | c.483-42C= (n.483-42C=)
| |
17 | g.63971893del | CA2639310935 | SCN4A | c.483-43del (n.483-43del)
| gnomAD v4 |
17 | g.63971893T>C | CA292972726 | SCN4A | c.483-43A>G (n.483-43A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63971893T>G | CA2270175599 | SCN4A | c.483-43A>C (n.483-43A>C)
| dbSNP |
17 | g.63971893T= | CA2270175598 | SCN4A | c.483-43A= (n.483-43A=)
| |
17 | g.63971895G>A | CA2270175601 | SCN4A | c.483-45C>T (n.483-45C>T)
| dbSNP gnomAD v4 |
17 | g.63971895G= | CA2270175600 | SCN4A | c.483-45C= (n.483-45C=)
| |
17 | g.63971895G>T | CA2639310938 | SCN4A | c.483-45C>A (n.483-45C>A)
| gnomAD v4 |
17 | g.63971896G>T | CA2639310940 | SCN4A | c.483-46C>A (n.483-46C>A)
| gnomAD v4 |
17 | g.63971897G>A | CA2270175603 | SCN4A | c.483-47C>T (n.483-47C>T)
| dbSNP |
17 | g.63971897G= | CA2270175602 | SCN4A | c.483-47C= (n.483-47C=)
| |
17 | g.63971897G>T | CA2639310943 | SCN4A | c.483-47C>A (n.483-47C>A)
| gnomAD v4 |
17 | g.63971898G>A | CA2639310944 | SCN4A | c.483-48C>T (n.483-48C>T)
| gnomAD v4 |
17 | g.63971898G>T | CA2639310948 | SCN4A | c.483-48C>A (n.483-48C>A)
| gnomAD v4 |
17 | g.63971899T>A | CA2639310949 | SCN4A | c.483-49A>T (n.483-49A>T)
| gnomAD v4 |
17 | g.63971899T>G | CA985438184 | SCN4A | c.483-49A>C (n.483-49A>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63971899T= | CA2270175604 | SCN4A | c.483-49A= (n.483-49A=)
| |
17 | g.63971900C>A | CA774008422 | SCN4A | c.483-50G>T (n.483-50G>T)
| dbSNP gnomAD v4 |
17 | g.63971900C= | CA2270175605 | SCN4A | c.483-50G= (n.483-50G=)
| |
17 | g.63971900C>T | CA2639310957 | SCN4A | c.483-50G>A (n.483-50G>A)
| gnomAD v4 |
17 | g.63971901A>G | CA2639310960 | SCN4A | c.483-51T>C (n.483-51T>C)
| gnomAD v4 |
17 | g.63971901A>T | CA2639310961 | SCN4A | c.483-51T>A (n.483-51T>A)
| dbSNP gnomAD v4 |
17 | g.63971902G>T | CA2639310963 | SCN4A | c.483-52C>A (n.483-52C>A)
| gnomAD v4 |
17 | g.63971903T>C | CA2639310966 | SCN4A | c.483-53A>G (n.483-53A>G)
| gnomAD v4 |
17 | g.63971903_63971904insC | CA2639310967 | SCN4A | c.483-54_483-53insG (n.483-54_483-53insG)
| gnomAD v4 |
17 | g.63971904G>C | CA2639310971 | SCN4A | c.483-54C>G (n.483-54C>G)
| gnomAD v4 |
17 | g.63971904G>T | CA2639310974 | SCN4A | c.483-54C>A (n.483-54C>A)
| gnomAD v4 |
17 | g.63971905T>A | CA2576356214 | SCN4A | c.483-55A>T (n.483-55A>T)
| |
17 | g.63971906G>A | CA2639310976 | SCN4A | c.483-56C>T (n.483-56C>T)
| gnomAD v4 |
17 | g.63971906G>T | CA2639310979 | SCN4A | c.483-56C>A (n.483-56C>A)
| gnomAD v4 |
17 | g.63971907G>A | CA2639310980 | SCN4A | c.483-57C>T (n.483-57C>T)
| gnomAD v4 |
17 | g.63971907G>T | CA2639310981 | SCN4A | c.483-57C>A (n.483-57C>A)
| gnomAD v4 |
17 | g.63971908C>A | CA2639310983 | SCN4A | c.483-58G>T (n.483-58G>T)
| gnomAD v4 |
17 | g.63971908C>T | CA2639310985 | SCN4A | c.483-58G>A (n.483-58G>A)
| gnomAD v4 |
17 | g.63971909A>C | CA2639310990 | SCN4A | c.483-59T>G (n.483-59T>G)
| gnomAD v4 |
17 | g.63971911C>A | CA774008423 | SCN4A | c.483-61G>T (n.483-61G>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63971911C= | CA2270175606 | SCN4A | c.483-61G= (n.483-61G=)
| |
17 | g.63971911C>G | CA2639310997 | SCN4A | c.483-61G>C (n.483-61G>C)
| gnomAD v4 |
17 | g.63971911C>T | CA292972728 | SCN4A | c.483-61G>A (n.483-61G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971912del | CA2639311003 | SCN4A | c.483-62del (n.483-62del)
| gnomAD v4 |
17 | g.63971912G>A | CA292972729 | SCN4A | c.483-62C>T (n.483-62C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63971912G= | CA2270175607 | SCN4A | c.483-62C= (n.483-62C=)
| |
17 | g.63971912G>T | CA2576356215 | SCN4A | c.483-62C>A (n.483-62C>A)
| gnomAD v4 |
17 | g.63971913A>G | CA2639311010 | SCN4A | c.483-63T>C (n.483-63T>C)
| gnomAD v4 |
17 | g.63971913A>T | CA2568870525 | SCN4A | c.483-63T>A (n.483-63T>A)
| gnomAD v4 |
17 | g.63971914_63971915dup | CA2639311007 | SCN4A | c.483-64_483-63dup (n.483-64_483-63dup)
| gnomAD v4 |
17 | g.63971916G>A | CA2576356216 | SCN4A | c.483-66C>T (n.483-66C>T)
| |
17 | g.63971916G>T | CA2576356217 | SCN4A | c.483-66C>A (n.483-66C>A)
| gnomAD v4 |
17 | g.63971917A>G | CA2639311013 | SCN4A | c.483-67T>C (n.483-67T>C)
| gnomAD v4 |
17 | g.63971917_63971918delinsAC | CA2270175608 | SCN4A | c.483-68_483-67delinsGT (n.483-68_483-67delinsGT)
| |
17 | g.63971918C>A | CA985438189 | SCN4A | c.483-68G>T (n.483-68G>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63971918C= | CA2270175609 | SCN4A | c.483-68G= (n.483-68G=)
| |
17 | g.63971922dup | CA2639311016 | SCN4A | c.483-68dup (n.483-68dup)
| gnomAD v4 |
17 | g.63971922del | CA2270175610 | SCN4A | c.483-68del (n.483-68del)
| dbSNP gnomAD v4 |
17 | g.63971920C>A | CA2270175612 | SCN4A | c.483-70G>T (n.483-70G>T)
| dbSNP gnomAD v4 |
17 | g.63971920C= | CA2270175611 | SCN4A | c.483-70G= (n.483-70G=)
| |
17 | g.63971920C>T | CA292972732 | SCN4A | c.483-70G>A (n.483-70G>A)
| dbSNP gnomAD v4 |
17 | g.63971921C>A | CA2639311022 | SCN4A | c.483-71G>T (n.483-71G>T)
| gnomAD v4 |
17 | g.63971921C>G | CA2639311023 | SCN4A | c.483-71G>C (n.483-71G>C)
| gnomAD v4 |
17 | g.63971922C>A | CA2576356218 | SCN4A | c.483-72G>T (n.483-72G>T)
| gnomAD v4 |
17 | g.63971922C>G | CA2639311025 | SCN4A | c.483-72G>C (n.483-72G>C)
| gnomAD v4 |
17 | g.63971922C>T | CA2733863672 | SCN4A | c.483-72G>A (n.483-72G>A)
| dbSNP |
17 | g.63971923A>T | CA2639311026 | SCN4A | c.483-73T>A (n.483-73T>A)
| gnomAD v4 |
17 | g.63971924G>A | CA656835721 | SCN4A | c.483-74C>T (n.483-74C>T)
| COSMIC |