17 | g.63941029G>A | CA501347926 | SCN4A | c.5253C>T (p.Ser1751=)
| |
17 | g.63941029G>C | CA501347924 | SCN4A | c.5253C>G (p.Ser1751=)
| |
17 | g.63941029G>T | CA501347922 | SCN4A | c.5253C>A (p.Ser1751=)
| |
17 | g.63941030G>A | CA400613204 | SCN4A | c.5252C>T (p.Ser1751Phe)
| |
17 | g.63941030G>C | CA400613207 | SCN4A | c.5252C>G (p.Ser1751Cys)
| |
17 | g.63941030G>T | CA400613208 | SCN4A | c.5252C>A (p.Ser1751Tyr)
| |
17 | g.63941031A= | CA2270160731 | SCN4A | c.5251T= (p.Ser1751=)
| |
17 | g.63941031A>C | CA8708801 | SCN4A | c.5251T>G (p.Ser1751Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941031A>G | CA400613212 | SCN4A | c.5251T>C (p.Ser1751Pro)
| |
17 | g.63941031A>T | CA8708800 | SCN4A | c.5251T>A (p.Ser1751Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941032T>A | CA501347934 | SCN4A | c.5250A>T (p.Ala1750=)
| gnomAD v4 |
17 | g.63941032T>C | CA501347939 | SCN4A | c.5250A>G (p.Ala1750=)
| COSMIC |
17 | g.63941032T>G | CA501347938 | SCN4A | c.5250A>C (p.Ala1750=)
| |
17 | g.63941033G>A | CA8708802 | SCN4A | c.5249C>T (p.Ala1750Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941033G>C | CA400613216 | SCN4A | c.5249C>G (p.Ala1750Gly)
| |
17 | g.63941033G= | CA2270160732 | SCN4A | c.5249C= (p.Ala1750=)
| |
17 | g.63941033G>T | CA400613218 | SCN4A | c.5249C>A (p.Ala1750Glu)
| |
17 | g.63941034C>A | CA400613221 | SCN4A | c.5248G>T (p.Ala1750Ser)
| dbSNP |
17 | g.63941034C= | CA2270160733 | SCN4A | c.5248G= (p.Ala1750=)
| |
17 | g.63941034C>G | CA400613223 | SCN4A | c.5248G>C (p.Ala1750Pro)
| dbSNP |
17 | g.63941034C>T | CA400613225 | SCN4A | c.5248G>A (p.Ala1750Thr)
| ClinVar |
17 | g.63941035C>A | CA400613228 | SCN4A | c.5247G>T (p.Gln1749His)
| |
17 | g.63941035C= | CA2270160734 | SCN4A | c.5247G= (p.Gln1749=)
| |
17 | g.63941035C>G | CA400613230 | SCN4A | c.5247G>C (p.Gln1749His)
| COSMIC |
17 | g.63941035C>T | CA501347947 | SCN4A | c.5247G>A (p.Gln1749=)
| dbSNP |
17 | g.63941036T>A | CA400613233 | SCN4A | c.5246A>T (p.Gln1749Leu)
| |
17 | g.63941036T>C | CA400613236 | SCN4A | c.5246A>G (p.Gln1749Arg)
| |
17 | g.63941036T>G | CA400613238 | SCN4A | c.5246A>C (p.Gln1749Pro)
| |
17 | g.63941037G>A | CA400613241 | SCN4A | c.5245C>T (p.Gln1749Ter)
| |
17 | g.63941037G>C | CA400613243 | SCN4A | c.5245C>G (p.Gln1749Glu)
| |
17 | g.63941037G>T | CA400613245 | SCN4A | c.5245C>A (p.Gln1749Lys)
| |
17 | g.63941038C>A | CA400613248 | SCN4A | c.5244G>T (p.Lys1748Asn)
| |
17 | g.63941038C>G | CA400613250 | SCN4A | c.5244G>C (p.Lys1748Asn)
| gnomAD v4 |
17 | g.63941038C>T | CA501347959 | SCN4A | c.5244G>A (p.Lys1748=)
| |
17 | g.63941039T>A | CA400613253 | SCN4A | c.5243A>T (p.Lys1748Met)
| |
17 | g.63941039T>C | CA400613256 | SCN4A | c.5243A>G (p.Lys1748Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941039T>G | CA400613258 | SCN4A | c.5243A>C (p.Lys1748Thr)
| |
17 | g.63941039T= | CA2270160735 | SCN4A | c.5243A= (p.Lys1748=)
| |
17 | g.63941040T>A | CA400613261 | SCN4A | c.5242A>T (p.Lys1748Ter)
| dbSNP |
17 | g.63941040T>C | CA400613263 | SCN4A | c.5242A>G (p.Lys1748Glu)
| |
17 | g.63941040T>G | CA400613265 | SCN4A | c.5242A>C (p.Lys1748Gln)
| |
17 | g.63941040T= | CA2270160736 | SCN4A | c.5242A= (p.Lys1748=)
| |
17 | g.63941041C>A | CA400613267 | SCN4A | c.5241G>T (p.Met1747Ile)
| |
17 | g.63941041C>G | CA400613270 | SCN4A | c.5241G>C (p.Met1747Ile)
| |
17 | g.63941041C>T | CA400613272 | SCN4A | c.5241G>A (p.Met1747Ile)
| COSMIC |
17 | g.63941042A= | CA2270160737 | SCN4A | c.5240T= (p.Met1747=)
| |
17 | g.63941042A>C | CA400613275 | SCN4A | c.5240T>G (p.Met1747Arg)
| |
17 | g.63941042A>G | CA8708803 | SCN4A | c.5240T>C (p.Met1747Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941042A>T | CA400613278 | SCN4A | c.5240T>A (p.Met1747Lys)
| |
17 | g.63941043T>A | CA400613282 | SCN4A | c.5239A>T (p.Met1747Leu)
| |
17 | g.63941043T>C | CA8708804 | SCN4A | c.5239A>G (p.Met1747Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941043T>G | CA400613284 | SCN4A | c.5239A>C (p.Met1747Leu)
| |
17 | g.63941043T= | CA2270160738 | SCN4A | c.5239A= (p.Met1747=)
| |
17 | g.63941044G>A | CA501347969 | SCN4A | c.5238C>T (p.Ser1746=)
| gnomAD v4 |
17 | g.63941044G>C | CA501347970 | SCN4A | c.5238C>G (p.Ser1746=)
| |
17 | g.63941044G>T | CA501347973 | SCN4A | c.5238C>A (p.Ser1746=)
| |
17 | g.63941045G>A | CA8708805 | SCN4A | c.5237C>T (p.Ser1746Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941045G>C | CA400613292 | SCN4A | c.5237C>G (p.Ser1746Cys)
| |
17 | g.63941045G= | CA2270160739 | SCN4A | c.5237C= (p.Ser1746=)
| |
17 | g.63941045G>T | CA400613290 | SCN4A | c.5237C>A (p.Ser1746Tyr)
| |
17 | g.63941046A= | CA2270160740 | SCN4A | c.5236T= (p.Ser1746=)
| |
17 | g.63941046A>C | CA400613296 | SCN4A | c.5236T>G (p.Ser1746Ala)
| |
17 | g.63941046A>G | CA400613301 | SCN4A | c.5236T>C (p.Ser1746Pro)
| dbSNP gnomAD v4 |
17 | g.63941046A>T | CA400613298 | SCN4A | c.5236T>A (p.Ser1746Thr)
| |
17 | g.63941047G>A | CA501347991 | SCN4A | c.5235C>T (p.Arg1745=)
| dbSNP |
17 | g.63941047G>C | CA501347996 | SCN4A | c.5235C>G (p.Arg1745=)
| |
17 | g.63941047G= | CA2270160741 | SCN4A | c.5235C= (p.Arg1745=)
| |
17 | g.63941047G>T | CA501347998 | SCN4A | c.5235C>A (p.Arg1745=)
| |
17 | g.63941048C>A | CA400613304 | SCN4A | c.5234G>T (p.Arg1745Leu)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941048C= | CA2270160742 | SCN4A | c.5234G= (p.Arg1745=)
| |
17 | g.63941048C>G | CA400613306 | SCN4A | c.5234G>C (p.Arg1745Pro)
| |
17 | g.63941048C>T | CA8708806 | SCN4A | c.5234G>A (p.Arg1745His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941049G>A | CA8708807 | SCN4A | c.5233C>T (p.Arg1745Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941049G>C | CA400613311 | SCN4A | c.5233C>G (p.Arg1745Gly)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941049G= | CA2270160743 | SCN4A | c.5233C= (p.Arg1745=)
| |
17 | g.63941049G>T | CA400613313 | SCN4A | c.5233C>A (p.Arg1745Ser)
| |
17 | g.63941050C>A | CA400613318 | SCN4A | c.5232G>T (p.Gln1744His)
| |
17 | g.63941050C= | CA2270160744 | SCN4A | c.5232G= (p.Gln1744=)
| |
17 | g.63941050C>G | CA400613316 | SCN4A | c.5232G>C (p.Gln1744His)
| |
17 | g.63941050C>T | CA292956429 | SCN4A | c.5232G>A (p.Gln1744=)
| dbSNP |
17 | g.63941051T>A | CA8708808 | SCN4A | c.5231A>T (p.Gln1744Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941051T>C | CA400613322 | SCN4A | c.5231A>G (p.Gln1744Arg)
| gnomAD v4 |
17 | g.63941051T>G | CA400613325 | SCN4A | c.5231A>C (p.Gln1744Pro)
| |
17 | g.63941051T= | CA2270160745 | SCN4A | c.5231A= (p.Gln1744=)
| |
17 | g.63941052G>A | CA400613327 | SCN4A | c.5230C>T (p.Gln1744Ter)
| dbSNP |
17 | g.63941052G>C | CA400613330 | SCN4A | c.5230C>G (p.Gln1744Glu)
| |
17 | g.63941052G= | CA2270160746 | SCN4A | c.5230C= (p.Gln1744=)
| |
17 | g.63941052G>T | CA400613332 | SCN4A | c.5230C>A (p.Gln1744Lys)
| |
17 | g.63941053T>A | CA501348016 | SCN4A | c.5229A>T (p.Leu1743=)
| |
17 | g.63941053T>C | CA501348015 | SCN4A | c.5229A>G (p.Leu1743=)
| ClinVar dbSNP COSMIC |
17 | g.63941053T>G | CA501348014 | SCN4A | c.5229A>C (p.Leu1743=)
| |
17 | g.63941053T= | CA2270160747 | SCN4A | c.5229A= (p.Leu1743=)
| |
17 | g.63941054A>C | CA400613335 | SCN4A | c.5228T>G (p.Leu1743Arg)
| |
17 | g.63941054A>G | CA400613338 | SCN4A | c.5228T>C (p.Leu1743Pro)
| gnomAD v4 |
17 | g.63941054A>T | CA400613336 | SCN4A | c.5228T>A (p.Leu1743Gln)
| |
17 | g.63941055G>A | CA8708809 | SCN4A | c.5227C>T (p.Leu1743=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941055G>C | CA400613342 | SCN4A | c.5227C>G (p.Leu1743Val)
| |
17 | g.63941055G= | CA2270160748 | SCN4A | c.5227C= (p.Leu1743=)
| |
17 | g.63941055G>T | CA400613345 | SCN4A | c.5227C>A (p.Leu1743Ile)
| |
17 | g.63941056C>A | CA501348022 | SCN4A | c.5226G>T (p.Leu1742=)
| |
17 | g.63941056C= | CA2270160749 | SCN4A | c.5226G= (p.Leu1742=)
| |
17 | g.63941056C>G | CA501348024 | SCN4A | c.5226G>C (p.Leu1742=)
| gnomAD v4 |
17 | g.63941056C>T | CA501348026 | SCN4A | c.5226G>A (p.Leu1742=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941058_63941096dup | CA2639322252 | SCN4A | c.5188_5226dup (p.Leu1742_Leu1743insCysAlaIleLysIleGlnArgAlaTyrArgArgHisLeu)
| gnomAD v4 |
17 | g.63941057A>C | CA400613348 | SCN4A | c.5225T>G (p.Leu1742Arg)
| |
17 | g.63941057A>G | CA400613350 | SCN4A | c.5225T>C (p.Leu1742Pro)
| |
17 | g.63941057A>T | CA400613352 | SCN4A | c.5225T>A (p.Leu1742Gln)
| |
17 | g.63941058G>A | CA292956434 | SCN4A | c.5224C>T (p.Leu1742=)
| dbSNP |
17 | g.63941058G>C | CA400613355 | SCN4A | c.5224C>G (p.Leu1742Val)
| |
17 | g.63941058G= | CA2270160750 | SCN4A | c.5224C= (p.Leu1742=)
| |
17 | g.63941058G>T | CA400613357 | SCN4A | c.5224C>A (p.Leu1742Met)
| |
17 | g.63941059G>A | CA501348035 | SCN4A | c.5223C>T (p.His1741=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941059G>C | CA400613360 | SCN4A | c.5223C>G (p.His1741Gln)
| |
17 | g.63941059G= | CA2270160751 | SCN4A | c.5223C= (p.His1741=)
| |
17 | g.63941059G>T | CA400613363 | SCN4A | c.5223C>A (p.His1741Gln)
| |
17 | g.63941060T>A | CA400613366 | SCN4A | c.5222A>T (p.His1741Leu)
| |
17 | g.63941060T>C | CA400613370 | SCN4A | c.5222A>G (p.His1741Arg)
| ClinVar |
17 | g.63941060T>G | CA400613368 | SCN4A | c.5222A>C (p.His1741Pro)
| |
17 | g.63941061G>A | CA8708810 | SCN4A | c.5221C>T (p.His1741Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941061G>C | CA400613374 | SCN4A | c.5221C>G (p.His1741Asp)
| |
17 | g.63941061G= | CA2270160752 | SCN4A | c.5221C= (p.His1741=)
| |
17 | g.63941061G>T | CA400613377 | SCN4A | c.5221C>A (p.His1741Asn)
| ClinVar |
17 | g.63941062C>A | CA501348044 | SCN4A | c.5220G>T (p.Arg1740=)
| |
17 | g.63941062C= | CA2270160753 | SCN4A | c.5220G= (p.Arg1740=)
| |
17 | g.63941062C>G | CA501348045 | SCN4A | c.5220G>C (p.Arg1740=)
| |
17 | g.63941062C>T | CA8708811 | SCN4A | c.5220G>A (p.Arg1740=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941063C>A | CA400613380 | SCN4A | c.5219G>T (p.Arg1740Leu)
| |
17 | g.63941063C= | CA2270160754 | SCN4A | c.5219G= (p.Arg1740=)
| |
17 | g.63941063C>G | CA400613382 | SCN4A | c.5219G>C (p.Arg1740Pro)
| |
17 | g.63941063C>T | CA400613385 | SCN4A | c.5219G>A (p.Arg1740Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941064G>A | CA8708812 | SCN4A | c.5218C>T (p.Arg1740Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941064G>C | CA400613389 | SCN4A | c.5218C>G (p.Arg1740Gly)
| |
17 | g.63941064G= | CA2270160755 | SCN4A | c.5218C= (p.Arg1740=)
| |
17 | g.63941064G>T | CA292956442 | SCN4A | c.5218C>A (p.Arg1740=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941065G>A | CA501348055 | SCN4A | c.5217C>T (p.Arg1739=)
| |
17 | g.63941065G>C | CA501348057 | SCN4A | c.5217C>G (p.Arg1739=)
| |
17 | g.63941065G>T | CA501348056 | SCN4A | c.5217C>A (p.Arg1739=)
| |
17 | g.63941066C>A | CA400613398 | SCN4A | c.5216G>T (p.Arg1739Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941066C= | CA2270160756 | SCN4A | c.5216G= (p.Arg1739=)
| |
17 | g.63941066C>G | CA400613396 | SCN4A | c.5216G>C (p.Arg1739Pro)
| |
17 | g.63941066C>T | CA400613394 | SCN4A | c.5216G>A (p.Arg1739His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941067G>A | CA400613401 | SCN4A | c.5215C>T (p.Arg1739Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941067G>C | CA400613403 | SCN4A | c.5215C>G (p.Arg1739Gly)
| |
17 | g.63941067G= | CA2270160757 | SCN4A | c.5215C= (p.Arg1739=)
| |
17 | g.63941067G>T | CA400613406 | SCN4A | c.5215C>A (p.Arg1739Ser)
| |
17 | g.63941068G>A | CA8708813 | SCN4A | c.5214C>T (p.Tyr1738=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941068G>C | CA400613410 | SCN4A | c.5214C>G (p.Tyr1738Ter)
| |
17 | g.63941068G= | CA2270160758 | SCN4A | c.5214C= (p.Tyr1738=)
| |
17 | g.63941068G>T | CA400613413 | SCN4A | c.5214C>A (p.Tyr1738Ter)
| |
17 | g.63941069T>A | CA400613416 | SCN4A | c.5213A>T (p.Tyr1738Phe)
| |
17 | g.63941069T>C | CA400613418 | SCN4A | c.5213A>G (p.Tyr1738Cys)
| gnomAD v4 |
17 | g.63941069T>G | CA400613420 | SCN4A | c.5213A>C (p.Tyr1738Ser)
| |
17 | g.63941070A= | CA2270160759 | SCN4A | c.5212T= (p.Tyr1738=)
| |
17 | g.63941070A>C | CA8708814 | SCN4A | c.5212T>G (p.Tyr1738Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941070A>G | CA400613425 | SCN4A | c.5212T>C (p.Tyr1738His)
| |
17 | g.63941070A>T | CA400613426 | SCN4A | c.5212T>A (p.Tyr1738Asn)
| |
17 | g.63941071G>A | CA501348072 | SCN4A | c.5211C>T (p.Ala1737=)
| gnomAD v4 |
17 | g.63941071G>C | CA501348073 | SCN4A | c.5211C>G (p.Ala1737=)
| |
17 | g.63941071G>T | CA501348074 | SCN4A | c.5211C>A (p.Ala1737=)
| dbSNP gnomAD v4 |
17 | g.63941072G>A | CA8708815 | SCN4A | c.5210C>T (p.Ala1737Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941072G>C | CA400613431 | SCN4A | c.5210C>G (p.Ala1737Gly)
| |
17 | g.63941072G= | CA2270160760 | SCN4A | c.5210C= (p.Ala1737=)
| |
17 | g.63941072G>T | CA400613428 | SCN4A | c.5210C>A (p.Ala1737Asp)
| |
17 | g.63941073C>A | CA400613436 | SCN4A | c.5209G>T (p.Ala1737Ser)
| |
17 | g.63941073C= | CA2270160761 | SCN4A | c.5209G= (p.Ala1737=)
| |
17 | g.63941073C>G | CA400613434 | SCN4A | c.5209G>C (p.Ala1737Pro)
| |
17 | g.63941073C>T | CA8708816 | SCN4A | c.5209G>A (p.Ala1737Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941074C>A | CA400613439 | SCN4A | c.5208G>T (p.Arg1736Ser)
| |
17 | g.63941074C>G | CA400613440 | SCN4A | c.5208G>C (p.Arg1736Ser)
| |
17 | g.63941074C>T | CA501348081 | SCN4A | c.5208G>A (p.Arg1736=)
| ClinVar |
17 | g.63941075C>A | CA400613442 | SCN4A | c.5207G>T (p.Arg1736Met)
| |
17 | g.63941075C= | CA2270160762 | SCN4A | c.5207G= (p.Arg1736=)
| |
17 | g.63941075C>G | CA400613445 | SCN4A | c.5207G>C (p.Arg1736Thr)
| |
17 | g.63941075C>T | CA8708817 | SCN4A | c.5207G>A (p.Arg1736Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941076T>A | CA400613447 | SCN4A | c.5206A>T (p.Arg1736Trp)
| |
17 | g.63941076T>C | CA400613449 | SCN4A | c.5206A>G (p.Arg1736Gly)
| gnomAD v4 |
17 | g.63941076T>G | CA501348086 | SCN4A | c.5206A>C (p.Arg1736=)
| |
17 | g.63941077C>A | CA400613450 | SCN4A | c.5205G>T (p.Gln1735His)
| |
17 | g.63941077C= | CA2270160763 | SCN4A | c.5205G= (p.Gln1735=)
| |
17 | g.63941077C>G | CA8708818 | SCN4A | c.5205G>C (p.Gln1735His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941077C>T | CA501348088 | SCN4A | c.5205G>A (p.Gln1735=)
| |
17 | g.63941078T>A | CA400613455 | SCN4A | c.5204A>T (p.Gln1735Leu)
| |
17 | g.63941078T>C | CA400613454 | SCN4A | c.5204A>G (p.Gln1735Arg)
| |
17 | g.63941078T>G | CA400613453 | SCN4A | c.5204A>C (p.Gln1735Pro)
| |
17 | g.63941079G>A | CA400613458 | SCN4A | c.5203C>T (p.Gln1735Ter)
| |
17 | g.63941079G>C | CA400613460 | SCN4A | c.5203C>G (p.Gln1735Glu)
| |
17 | g.63941079G>T | CA400613461 | SCN4A | c.5203C>A (p.Gln1735Lys)
| |
17 | g.63941080G>A | CA8708819 | SCN4A | c.5202C>T (p.Ile1734=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.63941080G>C | CA400613464 | SCN4A | c.5202C>G (p.Ile1734Met)
| |
17 | g.63941080G= | CA2270160764 | SCN4A | c.5202C= (p.Ile1734=)
| |
17 | g.63941080G>T | CA501348097 | SCN4A | c.5202C>A (p.Ile1734=)
| dbSNP |
17 | g.63941081A= | CA2270160765 | SCN4A | c.5201T= (p.Ile1734=)
| |
17 | g.63941081A>C | CA400613467 | SCN4A | c.5201T>G (p.Ile1734Ser)
| gnomAD v4 |
17 | g.63941081A>G | CA292956458 | SCN4A | c.5201T>C (p.Ile1734Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941081A>T | CA400613470 | SCN4A | c.5201T>A (p.Ile1734Asn)
| |
17 | g.63941082T>A | CA400613472 | SCN4A | c.5200A>T (p.Ile1734Phe)
| |
17 | g.63941082T>C | CA400613474 | SCN4A | c.5200A>G (p.Ile1734Val)
| |
17 | g.63941082T>G | CA400613476 | SCN4A | c.5200A>C (p.Ile1734Leu)
| |
17 | g.63941083C>A | CA400613478 | SCN4A | c.5199G>T (p.Lys1733Asn)
| |
17 | g.63941083C>G | CA400613480 | SCN4A | c.5199G>C (p.Lys1733Asn)
| |
17 | g.63941083C>T | CA501348102 | SCN4A | c.5199G>A (p.Lys1733=)
| |
17 | g.63941084T>A | CA400613484 | SCN4A | c.5198A>T (p.Lys1733Met)
| |
17 | g.63941084T>C | CA400613486 | SCN4A | c.5198A>G (p.Lys1733Arg)
| gnomAD v4 |
17 | g.63941084T>G | CA400613482 | SCN4A | c.5198A>C (p.Lys1733Thr)
| |
17 | g.63941085T>A | CA400613488 | SCN4A | c.5197A>T (p.Lys1733Ter)
| dbSNP |
17 | g.63941085T>C | CA400613490 | SCN4A | c.5197A>G (p.Lys1733Glu)
| |
17 | g.63941085T>G | CA400613492 | SCN4A | c.5197A>C (p.Lys1733Gln)
| |
17 | g.63941085T= | CA2270160766 | SCN4A | c.5197A= (p.Lys1733=)
| |
17 | g.63941086G>A | CA501348209 | SCN4A | c.5196C>T (p.Ile1732=)
| dbSNP |
17 | g.63941086G>C | CA400613493 | SCN4A | c.5196C>G (p.Ile1732Met)
| |
17 | g.63941086G= | CA2270160767 | SCN4A | c.5196C= (p.Ile1732=)
| |
17 | g.63941086G>T | CA501348210 | SCN4A | c.5196C>A (p.Ile1732=)
| |
17 | g.63941087A>C | CA400613495 | SCN4A | c.5195T>G (p.Ile1732Ser)
| |
17 | g.63941087A>G | CA400613497 | SCN4A | c.5195T>C (p.Ile1732Thr)
| |
17 | g.63941087A>T | CA400613499 | SCN4A | c.5195T>A (p.Ile1732Asn)
| |
17 | g.63941088T>A | CA400613501 | SCN4A | c.5194A>T (p.Ile1732Phe)
| |
17 | g.63941088T>C | CA400613503 | SCN4A | c.5194A>G (p.Ile1732Val)
| gnomAD v4 |
17 | g.63941088T>G | CA400613504 | SCN4A | c.5194A>C (p.Ile1732Leu)
| |
17 | g.63941089G>A | CA501348211 | SCN4A | c.5193C>T (p.Ala1731=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941089G>C | CA501348213 | SCN4A | c.5193C>G (p.Ala1731=)
| |
17 | g.63941089G= | CA2270160768 | SCN4A | c.5193C= (p.Ala1731=)
| |
17 | g.63941089G>T | CA501348215 | SCN4A | c.5193C>A (p.Ala1731=)
| |
17 | g.63941090G>A | CA292956459 | SCN4A | c.5192C>T (p.Ala1731Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941090G>C | CA400613508 | SCN4A | c.5192C>G (p.Ala1731Gly)
| |
17 | g.63941090G= | CA2270160769 | SCN4A | c.5192C= (p.Ala1731=)
| |
17 | g.63941090G>T | CA400613509 | SCN4A | c.5192C>A (p.Ala1731Asp)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941091C>A | CA400613514 | SCN4A | c.5191G>T (p.Ala1731Ser)
| |
17 | g.63941091C= | CA2270160770 | SCN4A | c.5191G= (p.Ala1731=)
| |
17 | g.63941091C>G | CA400613513 | SCN4A | c.5191G>C (p.Ala1731Pro)
| |
17 | g.63941091C>T | CA8708820 | SCN4A | c.5191G>A (p.Ala1731Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941092G>A | CA8708821 | SCN4A | c.5190C>T (p.Cys1730=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941092G>C | CA400613516 | SCN4A | c.5190C>G (p.Cys1730Trp)
| gnomAD v4 |
17 | g.63941092G= | CA2270160771 | SCN4A | c.5190C= (p.Cys1730=)
| |
17 | g.63941092G>T | CA400613518 | SCN4A | c.5190C>A (p.Cys1730Ter)
| dbSNP |
17 | g.63941093C>A | CA400613520 | SCN4A | c.5189G>T (p.Cys1730Phe)
| |
17 | g.63941093C>G | CA400613522 | SCN4A | c.5189G>C (p.Cys1730Ser)
| |
17 | g.63941093C>T | CA400613524 | SCN4A | c.5189G>A (p.Cys1730Tyr)
| |
17 | g.63941094A= | CA2270160772 | SCN4A | c.5188T= (p.Cys1730=)
| |
17 | g.63941094A>C | CA400613527 | SCN4A | c.5188T>G (p.Cys1730Gly)
| |
17 | g.63941094A>G | CA400613529 | SCN4A | c.5188T>C (p.Cys1730Arg)
| ClinVar dbSNP |
17 | g.63941094A>T | CA400613531 | SCN4A | c.5188T>A (p.Cys1730Ser)
| gnomAD v4 |
17 | g.63941095C>A | CA501348222 | SCN4A | c.5187G>T (p.Val1729=)
| |
17 | g.63941095C= | CA2270160773 | SCN4A | c.5187G= (p.Val1729=)
| |
17 | g.63941095C>G | CA8708822 | SCN4A | c.5187G>C (p.Val1729=)
| dbSNP ExAC gnomAD v2 |
17 | g.63941095C>T | CA501348221 | SCN4A | c.5187G>A (p.Val1729=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941096A= | CA2270160774 | SCN4A | c.5186T= (p.Val1729=)
| |
17 | g.63941096A>C | CA400613534 | SCN4A | c.5186T>G (p.Val1729Gly)
| |
17 | g.63941096A>G | CA8708823 | SCN4A | c.5186T>C (p.Val1729Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941096A>T | CA400613537 | SCN4A | c.5186T>A (p.Val1729Glu)
| |
17 | g.63941096_63941099delinsACCT | CA2270160775 | SCN4A | c.5183_5186delinsAGGT (p.Glu1728=)
| |
17 | g.63941097C>A | CA400613542 | SCN4A | c.5185G>T (p.Val1729Leu)
| |
17 | g.63941097C= | CA2270160777 | SCN4A | c.5185G= (p.Val1729=)
| |
17 | g.63941097C>G | CA400613540 | SCN4A | c.5185G>C (p.Val1729Leu)
| |
17 | g.63941097C>T | CA8708824 | SCN4A | c.5185G>A (p.Val1729Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941101_63941103del | CA2270160776 | SCN4A | c.5183_5185del (p.Glu1728del)
| dbSNP |
17 | g.63941098C>A | CA400613545 | SCN4A | c.5184G>T (p.Glu1728Asp)
| |
17 | g.63941098C>G | CA400613547 | SCN4A | c.5184G>C (p.Glu1728Asp)
| |
17 | g.63941098C>T | CA501348224 | SCN4A | c.5184G>A (p.Glu1728=)
| |
17 | g.63941099T>A | CA400613549 | SCN4A | c.5183A>T (p.Glu1728Val)
| |
17 | g.63941099T>C | CA400613553 | SCN4A | c.5183A>G (p.Glu1728Gly)
| |
17 | g.63941099T>G | CA400613551 | SCN4A | c.5183A>C (p.Glu1728Ala)
| gnomAD v4 |
17 | g.63941100C>A | CA400613556 | SCN4A | c.5182G>T (p.Glu1728Ter)
| dbSNP |
17 | g.63941100C= | CA2270160778 | SCN4A | c.5182G= (p.Glu1728=)
| |
17 | g.63941100C>G | CA400613558 | SCN4A | c.5182G>C (p.Glu1728Gln)
| |
17 | g.63941100C>T | CA400613561 | SCN4A | c.5182G>A (p.Glu1728Lys)
| gnomAD v4 |
17 | g.63941101C>A | CA400613564 | SCN4A | c.5181G>T (p.Glu1727Asp)
| |
17 | g.63941101C= | CA2270160779 | SCN4A | c.5181G= (p.Glu1727=)
| |
17 | g.63941101C>G | CA400613566 | SCN4A | c.5181G>C (p.Glu1727Asp)
| |
17 | g.63941101C>T | CA8708825 | SCN4A | c.5181G>A (p.Glu1727=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941102T>A | CA400613573 | SCN4A | c.5180A>T (p.Glu1727Val)
| |
17 | g.63941102T>C | CA400613575 | SCN4A | c.5180A>G (p.Glu1727Gly)
| |
17 | g.63941102T>G | CA400613578 | SCN4A | c.5180A>C (p.Glu1727Ala)
| |
17 | g.63941103C>A | CA400613582 | SCN4A | c.5179G>T (p.Glu1727Ter)
| |
17 | g.63941103C= | CA2270160780 | SCN4A | c.5179G= (p.Glu1727=)
| |
17 | g.63941103C>G | CA400613584 | SCN4A | c.5179G>C (p.Glu1727Gln)
| |
17 | g.63941103C>T | CA8708826 | SCN4A | c.5179G>A (p.Glu1727Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941104G>A | CA501348236 | SCN4A | c.5178C>T (p.His1726=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941104G>C | CA400613590 | SCN4A | c.5178C>G (p.His1726Gln)
| |
17 | g.63941104G= | CA2270160781 | SCN4A | c.5178C= (p.His1726=)
| |
17 | g.63941104G>T | CA8708827 | SCN4A | c.5178C>A (p.His1726Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941105T>A | CA400613594 | SCN4A | c.5177A>T (p.His1726Leu)
| |
17 | g.63941105T>C | CA400613597 | SCN4A | c.5177A>G (p.His1726Arg)
| ClinVar dbSNP |
17 | g.63941105T>G | CA400613599 | SCN4A | c.5177A>C (p.His1726Pro)
| |
17 | g.63941105T= | CA2270160782 | SCN4A | c.5177A= (p.His1726=)
| |
17 | g.63941106G>A | CA400613603 | SCN4A | c.5176C>T (p.His1726Tyr)
| |
17 | g.63941106G>C | CA400613605 | SCN4A | c.5176C>G (p.His1726Asp)
| gnomAD v4 |
17 | g.63941106G= | CA2270160783 | SCN4A | c.5176C= (p.His1726=)
| |
17 | g.63941106G>T | CA400613609 | SCN4A | c.5176C>A (p.His1726Asn)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941107C>A | CA400613612 | SCN4A | c.5175G>T (p.Lys1725Asn)
| |
17 | g.63941107C>G | CA400613615 | SCN4A | c.5175G>C (p.Lys1725Asn)
| |
17 | g.63941107C>T | CA501348242 | SCN4A | c.5175G>A (p.Lys1725=)
| |
17 | g.63941108T>A | CA400613618 | SCN4A | c.5174A>T (p.Lys1725Met)
| gnomAD v4 |
17 | g.63941108T>C | CA400613619 | SCN4A | c.5174A>G (p.Lys1725Arg)
| |
17 | g.63941108T>G | CA400613621 | SCN4A | c.5174A>C (p.Lys1725Thr)
| |
17 | g.63941109T>A | CA400613628 | SCN4A | c.5173A>T (p.Lys1725Ter)
| dbSNP |
17 | g.63941109T>C | CA400613626 | SCN4A | c.5173A>G (p.Lys1725Glu)
| |
17 | g.63941109T>G | CA400613625 | SCN4A | c.5173A>C (p.Lys1725Gln)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941109T= | CA2270160784 | SCN4A | c.5173A= (p.Lys1725=)
| |
17 | g.63941110C>A | CA400613631 | SCN4A | c.5172G>T (p.Arg1724Ser)
| |
17 | g.63941110C>G | CA400613634 | SCN4A | c.5172G>C (p.Arg1724Ser)
| |
17 | g.63941110C>T | CA501348247 | SCN4A | c.5172G>A (p.Arg1724=)
| ClinVar |
17 | g.63941111C>A | CA400613638 | SCN4A | c.5171G>T (p.Arg1724Met)
| |
17 | g.63941111C= | CA2270160785 | SCN4A | c.5171G= (p.Arg1724=)
| |
17 | g.63941111C>G | CA400613641 | SCN4A | c.5171G>C (p.Arg1724Thr)
| |
17 | g.63941111C>T | CA8708828 | SCN4A | c.5171G>A (p.Arg1724Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941112T>A | CA400613645 | SCN4A | c.5170A>T (p.Arg1724Trp)
| |
17 | g.63941112T>C | CA400613648 | SCN4A | c.5170A>G (p.Arg1724Gly)
| |
17 | g.63941112T>G | CA501348252 | SCN4A | c.5170A>C (p.Arg1724=)
| |
17 | g.63941113C>A | CA400613651 | SCN4A | c.5169G>T (p.Lys1723Asn)
| |
17 | g.63941113C= | CA2270160786 | SCN4A | c.5169G= (p.Lys1723=)
| |
17 | g.63941113C>G | CA400613654 | SCN4A | c.5169G>C (p.Lys1723Asn)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941113C>T | CA501348256 | SCN4A | c.5169G>A (p.Lys1723=)
| ClinVar dbSNP |
17 | g.63941114T>A | CA400613658 | SCN4A | c.5168A>T (p.Lys1723Met)
| |
17 | g.63941114T>C | CA400613661 | SCN4A | c.5168A>G (p.Lys1723Arg)
| |
17 | g.63941114T>G | CA400613664 | SCN4A | c.5168A>C (p.Lys1723Thr)
| |
17 | g.63941115T>A | CA400613672 | SCN4A | c.5167A>T (p.Lys1723Ter)
| dbSNP |
17 | g.63941115T>C | CA400613666 | SCN4A | c.5167A>G (p.Lys1723Glu)
| COSMIC |
17 | g.63941115T>G | CA400613670 | SCN4A | c.5167A>C (p.Lys1723Gln)
| |
17 | g.63941115T= | CA2270160787 | SCN4A | c.5167A= (p.Lys1723=)
| |
17 | g.63941116G>A | CA501348259 | SCN4A | c.5166C>T (p.Leu1722=)
| gnomAD v4 |
17 | g.63941116G>C | CA501348260 | SCN4A | c.5166C>G (p.Leu1722=)
| |
17 | g.63941116G>T | CA501348263 | SCN4A | c.5166C>A (p.Leu1722=)
| |
17 | g.63941117A>C | CA400613677 | SCN4A | c.5165T>G (p.Leu1722Arg)
| |
17 | g.63941117A>G | CA400613680 | SCN4A | c.5165T>C (p.Leu1722Pro)
| ClinVar gnomAD v4 |
17 | g.63941117A>T | CA400613683 | SCN4A | c.5165T>A (p.Leu1722His)
| |
17 | g.63941118G>A | CA400613688 | SCN4A | c.5164C>T (p.Leu1722Phe)
| gnomAD v4 |
17 | g.63941118G>C | CA400613691 | SCN4A | c.5164C>G (p.Leu1722Val)
| |
17 | g.63941118G>T | CA400613695 | SCN4A | c.5164C>A (p.Leu1722Ile)
| |
17 | g.63941119G>A | CA501348265 | SCN4A | c.5163C>T (p.Thr1721=)
| dbSNP COSMIC |
17 | g.63941119G>C | CA501348266 | SCN4A | c.5163C>G (p.Thr1721=)
| |
17 | g.63941119G= | CA2270160788 | SCN4A | c.5163C= (p.Thr1721=)
| |
17 | g.63941119G>T | CA501348269 | SCN4A | c.5163C>A (p.Thr1721=)
| |
17 | g.63941120G>A | CA400613697 | SCN4A | c.5162C>T (p.Thr1721Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941120G>C | CA400613700 | SCN4A | c.5162C>G (p.Thr1721Ser)
| |
17 | g.63941120G= | CA2270160789 | SCN4A | c.5162C= (p.Thr1721=)
| |
17 | g.63941120G>T | CA400613703 | SCN4A | c.5162C>A (p.Thr1721Asn)
| gnomAD v4 |
17 | g.63941121T>A | CA400613707 | SCN4A | c.5161A>T (p.Thr1721Ser)
| |
17 | g.63941121T>C | CA400613709 | SCN4A | c.5161A>G (p.Thr1721Ala)
| gnomAD v4 |
17 | g.63941121T>G | CA400613711 | SCN4A | c.5161A>C (p.Thr1721Pro)
| dbSNP |
17 | g.63941121T= | CA2270160790 | SCN4A | c.5161A= (p.Thr1721=)
| |
17 | g.63941122G>A | CA501348276 | SCN4A | c.5160C>T (p.Thr1720=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941122G>C | CA501348275 | SCN4A | c.5160C>G (p.Thr1720=)
| |
17 | g.63941122G= | CA2270160791 | SCN4A | c.5160C= (p.Thr1720=)
| |
17 | g.63941122G>T | CA501348274 | SCN4A | c.5160C>A (p.Thr1720=)
| |
17 | g.63941123G>A | CA400613715 | SCN4A | c.5159C>T (p.Thr1720Ile)
| |
17 | g.63941123G>C | CA400613718 | SCN4A | c.5159C>G (p.Thr1720Ser)
| |
17 | g.63941123G>T | CA400613713 | SCN4A | c.5159C>A (p.Thr1720Asn)
| |
17 | g.63941124T>A | CA400613728 | SCN4A | c.5158A>T (p.Thr1720Ser)
| |
17 | g.63941124T>C | CA400613722 | SCN4A | c.5158A>G (p.Thr1720Ala)
| |
17 | g.63941124T>G | CA400613725 | SCN4A | c.5158A>C (p.Thr1720Pro)
| |
17 | g.63941125G>A | CA501348283 | SCN4A | c.5157C>T (p.Thr1719=)
| |
17 | g.63941125G>C | CA501348281 | SCN4A | c.5157C>G (p.Thr1719=)
| |
17 | g.63941125G= | CA2270160792 | SCN4A | c.5157C= (p.Thr1719=)
| |
17 | g.63941125G>T | CA292956491 | SCN4A | c.5157C>A (p.Thr1719=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941126G>A | CA400613733 | SCN4A | c.5156C>T (p.Thr1719Ile)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941126G>C | CA400613735 | SCN4A | c.5156C>G (p.Thr1719Ser)
| gnomAD v4 |
17 | g.63941126G= | CA2270160793 | SCN4A | c.5156C= (p.Thr1719=)
| |
17 | g.63941126G>T | CA8708829 | SCN4A | c.5156C>A (p.Thr1719Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941127T>A | CA400613741 | SCN4A | c.5155A>T (p.Thr1719Ser)
| |
17 | g.63941127T>C | CA400613744 | SCN4A | c.5155A>G (p.Thr1719Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941127T>G | CA400613746 | SCN4A | c.5155A>C (p.Thr1719Pro)
| dbSNP |
17 | g.63941127T= | CA2270160794 | SCN4A | c.5155A= (p.Thr1719=)
| |
17 | g.63941128G>A | CA501348290 | SCN4A | c.5154C>T (p.Ile1718=)
| |
17 | g.63941128G>C | CA400613749 | SCN4A | c.5154C>G (p.Ile1718Met)
| ClinVar dbSNP |
17 | g.63941128G>T | CA501348291 | SCN4A | c.5154C>A (p.Ile1718=)
| |
17 | g.63941129A>C | CA400613754 | SCN4A | c.5153T>G (p.Ile1718Ser)
| |
17 | g.63941129A>G | CA400613757 | SCN4A | c.5153T>C (p.Ile1718Thr)
| |
17 | g.63941129A>T | CA400613759 | SCN4A | c.5153T>A (p.Ile1718Asn)
| |