17 | g.63941940G>A | CA117835 | SCN4A | c.4342C>T (p.Arg1448Cys)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941940G>C | CA400616190 | SCN4A | c.4342C>G (p.Arg1448Gly)
| ClinVar dbSNP |
17 | g.63941940G= | CA2270161188 | SCN4A | c.4342C= (p.Arg1448=)
| |
17 | g.63941940G>T | CA350903 | SCN4A | c.4342C>A (p.Arg1448Ser)
| ClinVar dbSNP |
17 | g.63941941G>A | CA501348542 | SCN4A | c.4341C>T (p.Phe1447=)
| ClinVar dbSNP |
17 | g.63941941G>C | CA400616191 | SCN4A | c.4341C>G (p.Phe1447Leu)
| |
17 | g.63941941G= | CA2270161189 | SCN4A | c.4341C= (p.Phe1447=)
| |
17 | g.63941941G>T | CA400616192 | SCN4A | c.4341C>A (p.Phe1447Leu)
| |
17 | g.63941942A>C | CA400616193 | SCN4A | c.4340T>G (p.Phe1447Cys)
| |
17 | g.63941942A>G | CA400616194 | SCN4A | c.4340T>C (p.Phe1447Ser)
| ClinVar |
17 | g.63941942A>T | CA400616195 | SCN4A | c.4340T>A (p.Phe1447Tyr)
| |
17 | g.63941943A>C | CA400616196 | SCN4A | c.4339T>G (p.Phe1447Val)
| |
17 | g.63941943A>G | CA400616197 | SCN4A | c.4339T>C (p.Phe1447Leu)
| |
17 | g.63941943A>T | CA400616198 | SCN4A | c.4339T>A (p.Phe1447Ile)
| |
17 | g.63941944C>A | CA501348544 | SCN4A | c.4338G>T (p.Leu1446=)
| |
17 | g.63941944C= | CA2270161190 | SCN4A | c.4338G= (p.Leu1446=)
| |
17 | g.63941944C>G | CA8708990 | SCN4A | c.4338G>C (p.Leu1446=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941944C>T | CA292957369 | SCN4A | c.4338G>A (p.Leu1446=)
| dbSNP |
17 | g.63941945A>C | CA400616201 | SCN4A | c.4337T>G (p.Leu1446Arg)
| |
17 | g.63941945A>G | CA400616200 | SCN4A | c.4337T>C (p.Leu1446Pro)
| |
17 | g.63941945A>T | CA400616199 | SCN4A | c.4337T>A (p.Leu1446Gln)
| |
17 | g.63941946G>A | CA501348546 | SCN4A | c.4336C>T (p.Leu1446=)
| |
17 | g.63941946G>C | CA400616202 | SCN4A | c.4336C>G (p.Leu1446Val)
| |
17 | g.63941946G>T | CA400616203 | SCN4A | c.4336C>A (p.Leu1446Met)
| |
17 | g.63941947C>A | CA501348548 | SCN4A | c.4335G>T (p.Thr1445=)
| dbSNP gnomAD v4 |
17 | g.63941947C= | CA2270161191 | SCN4A | c.4335G= (p.Thr1445=)
| |
17 | g.63941947C>G | CA501348547 | SCN4A | c.4335G>C (p.Thr1445=)
| |
17 | g.63941947C>T | CA8708991 | SCN4A | c.4335G>A (p.Thr1445=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941948G>A | CA8708992 | SCN4A | c.4334C>T (p.Thr1445Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941948G>C | CA400616204 | SCN4A | c.4334C>G (p.Thr1445Arg)
| |
17 | g.63941948G= | CA2270161192 | SCN4A | c.4334C= (p.Thr1445=)
| |
17 | g.63941948G>T | CA400616205 | SCN4A | c.4334C>A (p.Thr1445Lys)
| gnomAD v4 |
17 | g.63941949T>A | CA400616206 | SCN4A | c.4333A>T (p.Thr1445Ser)
| |
17 | g.63941949T>C | CA400616207 | SCN4A | c.4333A>G (p.Thr1445Ala)
| |
17 | g.63941949T>G | CA400616208 | SCN4A | c.4333A>C (p.Thr1445Pro)
| |
17 | g.63941950G>A | CA501348549 | SCN4A | c.4332C>T (p.Pro1444=)
| |
17 | g.63941950G>C | CA501348550 | SCN4A | c.4332C>G (p.Pro1444=)
| |
17 | g.63941950G>T | CA501348551 | SCN4A | c.4332C>A (p.Pro1444=)
| |
17 | g.63941951G>A | CA400616209 | SCN4A | c.4331C>T (p.Pro1444Leu)
| |
17 | g.63941951G>C | CA400616210 | SCN4A | c.4331C>G (p.Pro1444Arg)
| |
17 | g.63941951G>T | CA400616211 | SCN4A | c.4331C>A (p.Pro1444His)
| |
17 | g.63941952G>A | CA400616212 | SCN4A | c.4330C>T (p.Pro1444Ser)
| gnomAD v4 |
17 | g.63941952G>C | CA400616213 | SCN4A | c.4330C>G (p.Pro1444Ala)
| |
17 | g.63941952G= | CA2270161193 | SCN4A | c.4330C= (p.Pro1444=)
| |
17 | g.63941952G>T | CA400616214 | SCN4A | c.4330C>A (p.Pro1444Thr)
| dbSNP |
17 | g.63941953T>A | CA501348553 | SCN4A | c.4329A>T (p.Ser1443=)
| |
17 | g.63941953T>C | CA501348555 | SCN4A | c.4329A>G (p.Ser1443=)
| |
17 | g.63941953T>G | CA501348554 | SCN4A | c.4329A>C (p.Ser1443=)
| |
17 | g.63941954G>A | CA400616217 | SCN4A | c.4328C>T (p.Ser1443Leu)
| gnomAD v4 |
17 | g.63941954G>C | CA400616216 | SCN4A | c.4328C>G (p.Ser1443Ter)
| |
17 | g.63941954G>T | CA400616215 | SCN4A | c.4328C>A (p.Ser1443Ter)
| |
17 | g.63941955A>C | CA400616218 | SCN4A | c.4327T>G (p.Ser1443Ala)
| |
17 | g.63941955A>G | CA400616219 | SCN4A | c.4327T>C (p.Ser1443Pro)
| |
17 | g.63941955A>T | CA400616220 | SCN4A | c.4327T>A (p.Ser1443Thr)
| |
17 | g.63941956C>A | CA501348561 | SCN4A | c.4326G>T (p.Val1442=)
| gnomAD v4 |
17 | g.63941956C>G | CA501348562 | SCN4A | c.4326G>C (p.Val1442=)
| |
17 | g.63941956C>T | CA501348563 | SCN4A | c.4326G>A (p.Val1442=)
| |
17 | g.63941957A= | CA2270161194 | SCN4A | c.4325T= (p.Val1442=)
| |
17 | g.63941957A>C | CA400616221 | SCN4A | c.4325T>G (p.Val1442Gly)
| |
17 | g.63941957A>G | CA400616222 | SCN4A | c.4325T>C (p.Val1442Ala)
| |
17 | g.63941957A>T | CA117848 | SCN4A | c.4325T>A (p.Val1442Glu)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941957_63941958insGAGTGAGA | CA2810126901 | SCN4A | c.4325_4326insCTCACTCT (p.Pro1444LeufsTer9)
| |
17 | g.63941958C>A | CA400616223 | SCN4A | c.4324G>T (p.Val1442Leu)
| gnomAD v4 |
17 | g.63941958C= | CA2270161195 | SCN4A | c.4324G= (p.Val1442=)
| |
17 | g.63941958C>G | CA400616224 | SCN4A | c.4324G>C (p.Val1442Leu)
| gnomAD v4 |
17 | g.63941958C>T | CA8708993 | SCN4A | c.4324G>A (p.Val1442Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941958_63941959insCCCATTTCTAAAAACTATTCTTAA | CA2810126904 | SCN4A | c.4323_4324insTTAAGAATAGTTTTTAGAAATGGG (p.Phe1441_Val1442insLeuArgIleValPheArgAsnGly)
| |
17 | g.63941959G>A | CA8708994 | SCN4A | c.4323C>T (p.Phe1441=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941959G>C | CA400616225 | SCN4A | c.4323C>G (p.Phe1441Leu)
| |
17 | g.63941959G= | CA2270161196 | SCN4A | c.4323C= (p.Phe1441=)
| |
17 | g.63941959G>T | CA400616226 | SCN4A | c.4323C>A (p.Phe1441Leu)
| gnomAD v4 |
17 | g.63941960A>C | CA400616228 | SCN4A | c.4322T>G (p.Phe1441Cys)
| |
17 | g.63941960A>G | CA400616229 | SCN4A | c.4322T>C (p.Phe1441Ser)
| |
17 | g.63941960A>T | CA400616227 | SCN4A | c.4322T>A (p.Phe1441Tyr)
| |
17 | g.63941961A= | CA2270161197 | SCN4A | c.4321T= (p.Phe1441=)
| |
17 | g.63941961A>C | CA400616230 | SCN4A | c.4321T>G (p.Phe1441Val)
| |
17 | g.63941961A>G | CA400616231 | SCN4A | c.4321T>C (p.Phe1441Leu)
| |
17 | g.63941961A>T | CA400616232 | SCN4A | c.4321T>A (p.Phe1441Ile)
| dbSNP gnomAD v4 |
17 | g.63941962G>A | CA292957400 | SCN4A | c.4320C>T (p.Tyr1440=)
| dbSNP |
17 | g.63941962G>C | CA400616233 | SCN4A | c.4320C>G (p.Tyr1440Ter)
| |
17 | g.63941962G= | CA2270161198 | SCN4A | c.4320C= (p.Tyr1440=)
| |
17 | g.63941962G>T | CA400616234 | SCN4A | c.4320C>A (p.Tyr1440Ter)
| |
17 | g.63941963T>A | CA400616235 | SCN4A | c.4319A>T (p.Tyr1440Phe)
| |
17 | g.63941963T>C | CA400616236 | SCN4A | c.4319A>G (p.Tyr1440Cys)
| |
17 | g.63941963T>G | CA400616237 | SCN4A | c.4319A>C (p.Tyr1440Ser)
| |
17 | g.63941964A>C | CA400616238 | SCN4A | c.4318T>G (p.Tyr1440Asp)
| |
17 | g.63941964A>G | CA400616239 | SCN4A | c.4318T>C (p.Tyr1440His)
| |
17 | g.63941964A>T | CA400616240 | SCN4A | c.4318T>A (p.Tyr1440Asn)
| |
17 | g.63941965C>A | CA400616241 | SCN4A | c.4317G>T (p.Lys1439Asn)
| gnomAD v4 |
17 | g.63941965C>G | CA400616242 | SCN4A | c.4317G>C (p.Lys1439Asn)
| |
17 | g.63941965C>T | CA501348580 | SCN4A | c.4317G>A (p.Lys1439=)
| gnomAD v4 |
17 | g.63941966T>A | CA400616245 | SCN4A | c.4316A>T (p.Lys1439Met)
| |
17 | g.63941966T>C | CA400616244 | SCN4A | c.4316A>G (p.Lys1439Arg)
| |
17 | g.63941966T>G | CA400616243 | SCN4A | c.4316A>C (p.Lys1439Thr)
| |
17 | g.63941967T>A | CA400616246 | SCN4A | c.4315A>T (p.Lys1439Ter)
| dbSNP |
17 | g.63941967T>C | CA400616247 | SCN4A | c.4315A>G (p.Lys1439Glu)
| gnomAD v4 |
17 | g.63941967T>G | CA400616248 | SCN4A | c.4315A>C (p.Lys1439Gln)
| |
17 | g.63941967T= | CA2270161199 | SCN4A | c.4315A= (p.Lys1439=)
| |
17 | g.63941968C>A | CA400616249 | SCN4A | c.4314G>T (p.Gln1438His)
| gnomAD v4 |
17 | g.63941968C= | CA2270161200 | SCN4A | c.4314G= (p.Gln1438=)
| |
17 | g.63941968C>G | CA400616250 | SCN4A | c.4314G>C (p.Gln1438His)
| |
17 | g.63941968C>T | CA501348584 | SCN4A | c.4314G>A (p.Gln1438=)
| dbSNP gnomAD v2 |
17 | g.63941969T>A | CA400616251 | SCN4A | c.4313A>T (p.Gln1438Leu)
| |
17 | g.63941969T>C | CA8708995 | SCN4A | c.4313A>G (p.Gln1438Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941969T>G | CA400616252 | SCN4A | c.4313A>C (p.Gln1438Pro)
| |
17 | g.63941969T= | CA2270161201 | SCN4A | c.4313A= (p.Gln1438=)
| |
17 | g.63941970G>A | CA400616253 | SCN4A | c.4312C>T (p.Gln1438Ter)
| |
17 | g.63941970G>C | CA400616254 | SCN4A | c.4312C>G (p.Gln1438Glu)
| |
17 | g.63941970G>T | CA400616255 | SCN4A | c.4312C>A (p.Gln1438Lys)
| gnomAD v4 |
17 | g.63941971G>A | CA501348589 | SCN4A | c.4311C>T (p.Ile1437=)
| |
17 | g.63941971G>C | CA400616256 | SCN4A | c.4311C>G (p.Ile1437Met)
| |
17 | g.63941971G>T | CA501348591 | SCN4A | c.4311C>A (p.Ile1437=)
| gnomAD v4 |
17 | g.63941972A>C | CA400616259 | SCN4A | c.4310T>G (p.Ile1437Ser)
| |
17 | g.63941972A>G | CA400616258 | SCN4A | c.4310T>C (p.Ile1437Thr)
| |
17 | g.63941972A>T | CA400616257 | SCN4A | c.4310T>A (p.Ile1437Asn)
| |
17 | g.63941973T>A | CA400616260 | SCN4A | c.4309A>T (p.Ile1437Phe)
| |
17 | g.63941973T>C | CA400616262 | SCN4A | c.4309A>G (p.Ile1437Val)
| |
17 | g.63941973T>G | CA400616261 | SCN4A | c.4309A>C (p.Ile1437Leu)
| |
17 | g.63941974C>A | CA501348598 | SCN4A | c.4308G>T (p.Leu1436=)
| gnomAD v4 |
17 | g.63941974C>G | CA501348596 | SCN4A | c.4308G>C (p.Leu1436=)
| |
17 | g.63941974C>T | CA501348594 | SCN4A | c.4308G>A (p.Leu1436=)
| |
17 | g.63941975A= | CA2270161202 | SCN4A | c.4307T= (p.Leu1436=)
| |
17 | g.63941975A>C | CA400616263 | SCN4A | c.4307T>G (p.Leu1436Arg)
| |
17 | g.63941975A>G | CA400616264 | SCN4A | c.4307T>C (p.Leu1436Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941975A>T | CA400616265 | SCN4A | c.4307T>A (p.Leu1436Gln)
| |
17 | g.63941976G>A | CA501348601 | SCN4A | c.4306C>T (p.Leu1436=)
| |
17 | g.63941976G>C | CA400616266 | SCN4A | c.4306C>G (p.Leu1436Val)
| |
17 | g.63941976G>T | CA400616267 | SCN4A | c.4306C>A (p.Leu1436Met)
| |
17 | g.63941977G>A | CA501348605 | SCN4A | c.4305C>T (p.Asp1435=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941977G>C | CA400616268 | SCN4A | c.4305C>G (p.Asp1435Glu)
| |
17 | g.63941977G= | CA2270161203 | SCN4A | c.4305C= (p.Asp1435=)
| |
17 | g.63941977G>T | CA400616269 | SCN4A | c.4305C>A (p.Asp1435Glu)
| |
17 | g.63941978T>A | CA400616270 | SCN4A | c.4304A>T (p.Asp1435Val)
| |
17 | g.63941978T>C | CA400616271 | SCN4A | c.4304A>G (p.Asp1435Gly)
| gnomAD v4 |
17 | g.63941978T>G | CA400616272 | SCN4A | c.4304A>C (p.Asp1435Ala)
| |
17 | g.63941979C>A | CA400616274 | SCN4A | c.4303G>T (p.Asp1435Tyr)
| gnomAD v4 |
17 | g.63941979C= | CA2270161204 | SCN4A | c.4303G= (p.Asp1435=)
| |
17 | g.63941979C>G | CA8708996 | SCN4A | c.4303G>C (p.Asp1435His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941979C>T | CA400616273 | SCN4A | c.4303G>A (p.Asp1435Asn)
| |
17 | g.63941980A>C | CA501214142 | SCN4A | c.4302T>G (p.Ser1434=)
| |
17 | g.63941980A>G | CA501214144 | SCN4A | c.4302T>C (p.Ser1434=)
| gnomAD v4 |
17 | g.63941980A>T | CA501214143 | SCN4A | c.4302T>A (p.Ser1434=)
| |
17 | g.63941981G>A | CA400616275 | SCN4A | c.4301C>T (p.Ser1434Phe)
| |
17 | g.63941981G>C | CA400616276 | SCN4A | c.4301C>G (p.Ser1434Cys)
| |
17 | g.63941981G= | CA2270161205 | SCN4A | c.4301C= (p.Ser1434=)
| |
17 | g.63941981G>T | CA400616277 | SCN4A | c.4301C>A (p.Ser1434Tyr)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941982A= | CA2270161206 | SCN4A | c.4300T= (p.Ser1434=)
| |
17 | g.63941982A>C | CA400616278 | SCN4A | c.4300T>G (p.Ser1434Ala)
| |
17 | g.63941982A>G | CA400616279 | SCN4A | c.4300T>C (p.Ser1434Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941982A>T | CA400616280 | SCN4A | c.4300T>A (p.Ser1434Thr)
| |
17 | g.63941983del | CA2810126911 | SCN4A | c.4299del (p.Ser1434LeufsTer3)
| |
17 | g.63941983G>A | CA501214145 | SCN4A | c.4299C>T (p.Leu1433=)
| gnomAD v4 |
17 | g.63941983G>C | CA501214146 | SCN4A | c.4299C>G (p.Leu1433=)
| |
17 | g.63941983G>T | CA501214147 | SCN4A | c.4299C>A (p.Leu1433=)
| |
17 | g.63941984A= | CA2270161207 | SCN4A | c.4298T= (p.Leu1433=)
| |
17 | g.63941984A>C | CA117844 | SCN4A | c.4298T>G (p.Leu1433Arg)
| ClinVar dbSNP |
17 | g.63941984A>G | CA400616281 | SCN4A | c.4298T>C (p.Leu1433Pro)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941984A>T | CA400616282 | SCN4A | c.4298T>A (p.Leu1433His)
| |
17 | g.63941985G>A | CA400616283 | SCN4A | c.4297C>T (p.Leu1433Phe)
| ClinVar |
17 | g.63941985G>C | CA400616284 | SCN4A | c.4297C>G (p.Leu1433Val)
| |
17 | g.63941985G>T | CA400616285 | SCN4A | c.4297C>A (p.Leu1433Ile)
| |
17 | g.63941986G>A | CA501214148 | SCN4A | c.4296C>T (p.Ala1432=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941986G>C | CA501214149 | SCN4A | c.4296C>G (p.Ala1432=)
| |
17 | g.63941986G= | CA2270161208 | SCN4A | c.4296C= (p.Ala1432=)
| |
17 | g.63941986G>T | CA501214150 | SCN4A | c.4296C>A (p.Ala1432=)
| gnomAD v4 |
17 | g.63941987G>A | CA400616287 | SCN4A | c.4295C>T (p.Ala1432Val)
| dbSNP gnomAD v4 |
17 | g.63941987G>C | CA400616288 | SCN4A | c.4295C>G (p.Ala1432Gly)
| |
17 | g.63941987G= | CA2270161209 | SCN4A | c.4295C= (p.Ala1432=)
| |
17 | g.63941987G>T | CA400616286 | SCN4A | c.4295C>A (p.Ala1432Asp)
| gnomAD v4 |
17 | g.63941988C>A | CA400616289 | SCN4A | c.4294G>T (p.Ala1432Ser)
| gnomAD v4 |
17 | g.63941988C= | CA2270161210 | SCN4A | c.4294G= (p.Ala1432=)
| |
17 | g.63941988C>G | CA400616290 | SCN4A | c.4294G>C (p.Ala1432Pro)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941988C>T | CA400616291 | SCN4A | c.4294G>A (p.Ala1432Thr)
| dbSNP gnomAD v2 |
17 | g.63941989A>C | CA501214151 | SCN4A | c.4293T>G (p.Leu1431=)
| |
17 | g.63941989A>G | CA501214152 | SCN4A | c.4293T>C (p.Leu1431=)
| |
17 | g.63941989A>T | CA501214153 | SCN4A | c.4293T>A (p.Leu1431=)
| |
17 | g.63941990A= | CA2270161211 | SCN4A | c.4292T= (p.Leu1431=)
| |
17 | g.63941990A>C | CA400616292 | SCN4A | c.4292T>G (p.Leu1431Arg)
| |
17 | g.63941990A>G | CA400616293 | SCN4A | c.4292T>C (p.Leu1431Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941990A>T | CA400616294 | SCN4A | c.4292T>A (p.Leu1431His)
| |
17 | g.63941991G>A | CA400616295 | SCN4A | c.4291C>T (p.Leu1431Phe)
| |
17 | g.63941991G>C | CA400616296 | SCN4A | c.4291C>G (p.Leu1431Val)
| |
17 | g.63941991G= | CA2270161212 | SCN4A | c.4291C= (p.Leu1431=)
| |
17 | g.63941991G>T | CA8708997 | SCN4A | c.4291C>A (p.Leu1431Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941992G>A | CA8708998 | SCN4A | c.4290C>T (p.Gly1430=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941992G>C | CA501214155 | SCN4A | c.4290C>G (p.Gly1430=)
| |
17 | g.63941992G= | CA2270161213 | SCN4A | c.4290C= (p.Gly1430=)
| |
17 | g.63941992G>T | CA501214156 | SCN4A | c.4290C>A (p.Gly1430=)
| |
17 | g.63941993C>A | CA400616297 | SCN4A | c.4289G>T (p.Gly1430Val)
| gnomAD v4 |
17 | g.63941993C= | CA2270161214 | SCN4A | c.4289G= (p.Gly1430=)
| |
17 | g.63941993C>G | CA400616298 | SCN4A | c.4289G>C (p.Gly1430Ala)
| |
17 | g.63941993C>T | CA400616299 | SCN4A | c.4289G>A (p.Gly1430Asp)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941994dup | CA2841434462 | SCN4A | c.4289dup
| |
17 | g.63941994C>A | CA400616302 | SCN4A | c.4289-1G>T (n.4289-1G>T)
| |
17 | g.63941994C= | CA2270161215 | SCN4A | c.4289-1G= (n.4289-1G=)
| |
17 | g.63941994C>G | CA400616301 | SCN4A | c.4289-1G>C (n.4289-1G>C)
| |
17 | g.63941994C>T | CA400616300 | SCN4A | c.4289-1G>A (n.4289-1G>A)
| |
17 | g.63941994_63941995insCACAA | CA626860715 | SCN4A | c.4289-2_4289-1insTTGTG (n.4289-2_4289-1insTTGTG)
| dbSNP gnomAD v2 |
17 | g.63941995T>A | CA400616303 | SCN4A | c.4289-2A>T (n.4289-2A>T)
| dbSNP |
17 | g.63941995T>C | CA400616304 | SCN4A | c.4289-2A>G (n.4289-2A>G)
| gnomAD v4 |
17 | g.63941995T>G | CA400616305 | SCN4A | c.4289-2A>C (n.4289-2A>C)
| gnomAD v4 |
17 | g.63941995T= | CA2270161216 | SCN4A | c.4289-2A= (n.4289-2A=)
| |
17 | g.63941997_63942050del | CA2639307675 | SCN4A | c.4289-55_4289-2del (n.4289-55_4289-2del)
| gnomAD v4 |
17 | g.63941996G>A | CA2639307680 | SCN4A | c.4289-3C>T (n.4289-3C>T)
| gnomAD v4 |
17 | g.63941996G= | CA2270161217 | SCN4A | c.4289-3C= (n.4289-3C=)
| |
17 | g.63941996_63941997insGACAGGATGA | CA626860718 | SCN4A | c.4289-4_4289-3insTCATCCTGTC (n.4289-4_4289-3insTCATCCTGTC)
| dbSNP gnomAD v2 |
17 | g.63941997C>A | CA2639307685 | SCN4A | c.4289-4G>T (n.4289-4G>T)
| gnomAD v4 |
17 | g.63941997C= | CA2270161218 | SCN4A | c.4289-4G= (n.4289-4G=)
| |
17 | g.63941997C>T | CA8708999 | SCN4A | c.4289-4G>A (n.4289-4G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941998G>A | CA626860721 | SCN4A | c.4289-5C>T (n.4289-5C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941998G= | CA2270161219 | SCN4A | c.4289-5C= (n.4289-5C=)
| |
17 | g.63941998G>T | CA2639307694 | SCN4A | c.4289-5C>A (n.4289-5C>A)
| gnomAD v4 |
17 | g.63942001del | CA2576355443 | SCN4A | c.4289-5del (n.4289-5del)
| |
17 | g.63941998_63941999insACCACGAAGTCAAAGATGTTCCAGCCAACGGTGAAGTAGTACTGGCGCA | CA626860723 | SCN4A | c.4289-6_4289-5insTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGACTTCGTGGT (n.4289-6_4289-5insTGCGCCAGTACTACTTCACCGTTGGCTGGAACATCTTTGACTTCGTGGT)
| gnomAD v2 |
17 | g.63941999G>A | CA2639307697 | SCN4A | c.4289-6C>T (n.4289-6C>T)
| gnomAD v4 |
17 | g.63941999G>C | CA2639307700 | SCN4A | c.4289-6C>G (n.4289-6C>G)
| gnomAD v4 |
17 | g.63941999G>T | CA2639307701 | SCN4A | c.4289-6C>A (n.4289-6C>A)
| gnomAD v4 |
17 | g.63942000G>A | CA8709000 | SCN4A | c.4289-7C>T (n.4289-7C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942000G>C | CA2580094705 | SCN4A | c.4289-7C>G (n.4289-7C>G)
| ClinVar |
17 | g.63942000G= | CA2270161220 | SCN4A | c.4289-7C= (n.4289-7C=)
| |
17 | g.63942001G>A | CA2270161222 | SCN4A | c.4289-8C>T (n.4289-8C>T)
| dbSNP |
17 | g.63942001G>C | CA2639307703 | SCN4A | c.4289-8C>G (n.4289-8C>G)
| gnomAD v4 |
17 | g.63942001G= | CA2270161221 | SCN4A | c.4289-8C= (n.4289-8C=)
| |
17 | g.63942001G>T | CA2639307705 | SCN4A | c.4289-8C>A (n.4289-8C>A)
| gnomAD v4 |
17 | g.63942002A>G | CA2639307707 | SCN4A | c.4289-9T>C (n.4289-9T>C)
| gnomAD v4 |
17 | g.63942003G>T | CA2639307708 | SCN4A | c.4289-10C>A (n.4289-10C>A)
| gnomAD v4 |
17 | g.63942005A= | CA2270161223 | SCN4A | c.4289-12T= (n.4289-12T=)
| |
17 | g.63942005A>G | CA985439223 | SCN4A | c.4289-12T>C (n.4289-12T>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942007_63942014del | CA2576355444 | SCN4A | c.4289-19_4289-12del (n.4289-19_4289-12del)
| |
17 | g.63942006G>A | CA2639307709 | SCN4A | c.4289-13C>T (n.4289-13C>T)
| gnomAD v4 |
17 | g.63942006G>T | CA2639307710 | SCN4A | c.4289-13C>A (n.4289-13C>A)
| gnomAD v4 |
17 | g.63942007C>A | CA2639307712 | SCN4A | c.4289-14G>T (n.4289-14G>T)
| gnomAD v4 |
17 | g.63942007C>T | CA2639307713 | SCN4A | c.4289-14G>A (n.4289-14G>A)
| gnomAD v4 |
17 | g.63942008T>C | CA2639307714 | SCN4A | c.4289-15A>G (n.4289-15A>G)
| gnomAD v4 |
17 | g.63942011T>A | CA2576355445 | SCN4A | c.4289-18A>T (n.4289-18A>T)
| |
17 | g.63942011T>G | CA2639307716 | SCN4A | c.4289-18A>C (n.4289-18A>C)
| gnomAD v4 |
17 | g.63942012G>T | CA2639307717 | SCN4A | c.4289-19C>A (n.4289-19C>A)
| gnomAD v4 |
17 | g.63942013A>G | CA2639307718 | SCN4A | c.4289-20T>C (n.4289-20T>C)
| gnomAD v4 |
17 | g.63942014G= | CA2270161224 | SCN4A | c.4289-21C= (n.4289-21C=)
| |
17 | g.63942014G>T | CA626860725 | SCN4A | c.4289-21C>A (n.4289-21C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942016A>C | CA2639307720 | SCN4A | c.4289-23T>G (n.4289-23T>G)
| gnomAD v4 |
17 | g.63942017C>A | CA2270161226 | SCN4A | c.4289-24G>T (n.4289-24G>T)
| dbSNP gnomAD v4 |
17 | g.63942017C= | CA2270161225 | SCN4A | c.4289-24G= (n.4289-24G=)
| |
17 | g.63942017C>T | CA8709001 | SCN4A | c.4289-24G>A (n.4289-24G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.63942018G>A | CA8709002 | SCN4A | c.4289-25C>T (n.4289-25C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942018G>C | CA2639307723 | SCN4A | c.4289-25C>G (n.4289-25C>G)
| gnomAD v4 |
17 | g.63942018G= | CA2270161227 | SCN4A | c.4289-25C= (n.4289-25C=)
| |
17 | g.63942018G>T | CA2639307722 | SCN4A | c.4289-25C>A (n.4289-25C>A)
| gnomAD v4 |
17 | g.63942019C>A | CA2639307724 | SCN4A | c.4289-26G>T (n.4289-26G>T)
| gnomAD v4 |
17 | g.63942019C>T | CA2639307725 | SCN4A | c.4289-26G>A (n.4289-26G>A)
| gnomAD v4 |
17 | g.63942020T>A | CA2639307726 | SCN4A | c.4289-27A>T (n.4289-27A>T)
| gnomAD v4 |
17 | g.63942020T>C | CA2639307727 | SCN4A | c.4289-27A>G (n.4289-27A>G)
| gnomAD v4 |
17 | g.63942020T>G | CA2639307728 | SCN4A | c.4289-27A>C (n.4289-27A>C)
| gnomAD v4 |
17 | g.63942021G>A | CA985439234 | SCN4A | c.4289-28C>T (n.4289-28C>T)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942021G= | CA2270161228 | SCN4A | c.4289-28C= (n.4289-28C=)
| |
17 | g.63942021G>T | CA2639307729 | SCN4A | c.4289-28C>A (n.4289-28C>A)
| gnomAD v4 |
17 | g.63942022C>A | CA8709003 | SCN4A | c.4289-29G>T (n.4289-29G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942022C= | CA2270161229 | SCN4A | c.4289-29G= (n.4289-29G=)
| |
17 | g.63942022C>G | CA2639307730 | SCN4A | c.4289-29G>C (n.4289-29G>C)
| gnomAD v4 |
17 | g.63942022C>T | CA626860727 | SCN4A | c.4289-29G>A (n.4289-29G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942023C>A | CA2639307735 | SCN4A | c.4289-30G>T (n.4289-30G>T)
| gnomAD v4 |
17 | g.63942024A= | CA2270161230 | SCN4A | c.4289-31T= (n.4289-31T=)
| |
17 | g.63942024A>C | CA292957454 | SCN4A | c.4289-31T>G (n.4289-31T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942024A>T | CA2270161231 | SCN4A | c.4289-31T>A (n.4289-31T>A)
| dbSNP |
17 | g.63942025C>A | CA8709004 | SCN4A | c.4289-32G>T (n.4289-32G>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942025C= | CA2270161232 | SCN4A | c.4289-32G= (n.4289-32G=)
| |
17 | g.63942025C>T | CA2639307745 | SCN4A | c.4289-32G>A (n.4289-32G>A)
| gnomAD v4 |
17 | g.63942026T>C | CA2639307755 | SCN4A | c.4289-33A>G (n.4289-33A>G)
| gnomAD v4 |
17 | g.63942026T>G | CA985439250 | SCN4A | c.4289-33A>C (n.4289-33A>C)
| gnomAD v3 gnomAD v4 |
17 | g.63942027G>A | CA2639307759 | SCN4A | c.4289-34C>T (n.4289-34C>T)
| gnomAD v4 |
17 | g.63942030del | CA2639307758 | SCN4A | c.4289-34del (n.4289-34del)
| gnomAD v4 |
17 | g.63942028G>A | CA2639307762 | SCN4A | c.4289-35C>T (n.4289-35C>T)
| gnomAD v4 |
17 | g.63942028G>C | CA2733864384 | SCN4A | c.4289-35C>G (n.4289-35C>G)
| dbSNP |
17 | g.63942028G>T | CA2639307764 | SCN4A | c.4289-35C>A (n.4289-35C>A)
| gnomAD v4 |
17 | g.63942029G>C | CA2270161233 | SCN4A | c.4289-36C>G (n.4289-36C>G)
| dbSNP gnomAD v4 |
17 | g.63942029G= | CA2270161234 | SCN4A | c.4289-36C= (n.4289-36C=)
| |
17 | g.63942029G>T | CA2639307770 | SCN4A | c.4289-36C>A (n.4289-36C>A)
| gnomAD v4 |
17 | g.63942030G>A | CA2841434463 | SCN4A | c.4289-37C>T (n.4289-37C>T)
| |
17 | g.63942030G>C | CA774007312 | SCN4A | c.4289-37C>G (n.4289-37C>G)
| dbSNP |
17 | g.63942030G= | CA2270161235 | SCN4A | c.4289-37C= (n.4289-37C=)
| |
17 | g.63942030G>T | CA2639307771 | SCN4A | c.4289-37C>A (n.4289-37C>A)
| gnomAD v4 |
17 | g.63942031del | CA2841434464 | SCN4A | c.4289-38del (n.4289-38del)
| |
17 | g.63942031A>G | CA985439256 | SCN4A | c.4289-38T>C (n.4289-38T>C)
| gnomAD v3 gnomAD v4 |
17 | g.63942031_63942032delinsAG | CA2270161236 | SCN4A | c.4289-39_4289-38delinsCT (n.4289-39_4289-38delinsCT)
| |
17 | g.63942037_63942075del | CA2639307774 | SCN4A | c.4289-76_4289-38del (n.4289-76_4289-38del)
| gnomAD v4 |
17 | g.63942032G>A | CA8709005 | SCN4A | c.4289-39C>T (n.4289-39C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942032G>C | CA292957464 | SCN4A | c.4289-39C>G (n.4289-39C>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63942032G= | CA2270161238 | SCN4A | c.4289-39C= (n.4289-39C=)
| |
17 | g.63942032G>T | CA626860733 | SCN4A | c.4289-39C>A (n.4289-39C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942037dup | CA626860731 | SCN4A | c.4289-39dup (n.4289-39dup)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942037del | CA2270161237 | SCN4A | c.4289-39del (n.4289-39del)
| dbSNP gnomAD v4 |
17 | g.63942033G= | CA2270161239 | SCN4A | c.4289-40C= (n.4289-40C=)
| |
17 | g.63942033G>T | CA626860734 | SCN4A | c.4289-40C>A (n.4289-40C>A)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942034G>A | CA626860735 | SCN4A | c.4289-41C>T (n.4289-41C>T)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63942034G>C | CA2639307793 | SCN4A | c.4289-41C>G (n.4289-41C>G)
| gnomAD v4 |
17 | g.63942034G= | CA2270161240 | SCN4A | c.4289-41C= (n.4289-41C=)
| |
17 | g.63942035G>A | CA2639307794 | SCN4A | c.4289-42C>T (n.4289-42C>T)
| gnomAD v4 |
17 | g.63942035G>C | CA8709006 | SCN4A | c.4289-42C>G (n.4289-42C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942035G= | CA2270161241 | SCN4A | c.4289-42C= (n.4289-42C=)
| |
17 | g.63942035G>T | CA2639307796 | SCN4A | c.4289-42C>A (n.4289-42C>A)
| gnomAD v4 |
17 | g.63942036G>A | CA626860737 | SCN4A | c.4289-43C>T (n.4289-43C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942036G= | CA2270161242 | SCN4A | c.4289-43C= (n.4289-43C=)
| |
17 | g.63942036G>T | CA2639307799 | SCN4A | c.4289-43C>A (n.4289-43C>A)
| gnomAD v4 |
17 | g.63942037G>A | CA2542015621 | SCN4A | c.4289-44C>T (n.4289-44C>T)
| gnomAD v4 |
17 | g.63942037G>T | CA2639307805 | SCN4A | c.4289-44C>A (n.4289-44C>A)
| gnomAD v4 |
17 | g.63942038C>A | CA2639307806 | SCN4A | c.4289-45G>T (n.4289-45G>T)
| gnomAD v4 |
17 | g.63942038C>G | CA2639307807 | SCN4A | c.4289-45G>C (n.4289-45G>C)
| gnomAD v4 |
17 | g.63942038C>T | CA2639307809 | SCN4A | c.4289-45G>A (n.4289-45G>A)
| gnomAD v4 |
17 | g.63942039C>A | CA2576355446 | SCN4A | c.4289-46G>T (n.4289-46G>T)
| gnomAD v4 |
17 | g.63942039C= | CA2270161243 | SCN4A | c.4289-46G= (n.4289-46G=)
| |
17 | g.63942039C>G | CA2639307812 | SCN4A | c.4289-46G>C (n.4289-46G>C)
| gnomAD v4 |
17 | g.63942039C>T | CA8709007 | SCN4A | c.4289-46G>A (n.4289-46G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63942040G>A | CA8709008 | SCN4A | c.4289-47C>T (n.4289-47C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63942040G= | CA2270161244 | SCN4A | c.4289-47C= (n.4289-47C=)
| |
17 | g.63942040G>T | CA2639307813 | SCN4A | c.4289-47C>A (n.4289-47C>A)
| gnomAD v4 |