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)
| |
17 | g.63941130T>A | CA400613762 | SCN4A | c.5152A>T (p.Ile1718Phe)
| |
17 | g.63941130T>C | CA400613768 | SCN4A | c.5152A>G (p.Ile1718Val)
| |
17 | g.63941130T>G | CA400613765 | SCN4A | c.5152A>C (p.Ile1718Leu)
| |
17 | g.63941131G>A | CA501348299 | SCN4A | c.5151C>T (p.Pro1717=)
| |
17 | g.63941131G>C | CA501348300 | SCN4A | c.5151C>G (p.Pro1717=)
| |
17 | g.63941131G>T | CA501348301 | SCN4A | c.5151C>A (p.Pro1717=)
| gnomAD v4 |
17 | g.63941132G>A | CA400613771 | SCN4A | c.5150C>T (p.Pro1717Leu)
| |
17 | g.63941132G>C | CA400613773 | SCN4A | c.5150C>G (p.Pro1717Arg)
| |
17 | g.63941132G>T | CA400613775 | SCN4A | c.5150C>A (p.Pro1717His)
| |
17 | g.63941133G>A | CA400613779 | SCN4A | c.5149C>T (p.Pro1717Ser)
| |
17 | g.63941133G>C | CA400613781 | SCN4A | c.5149C>G (p.Pro1717Ala)
| |
17 | g.63941133G>T | CA400613783 | SCN4A | c.5149C>A (p.Pro1717Thr)
| |
17 | g.63941134C>A | CA400613785 | SCN4A | c.5148G>T (p.Glu1716Asp)
| |
17 | g.63941134C= | CA2270160795 | SCN4A | c.5148G= (p.Glu1716=)
| |
17 | g.63941134C>G | CA400613788 | SCN4A | c.5148G>C (p.Glu1716Asp)
| |
17 | g.63941134C>T | CA501348304 | SCN4A | c.5148G>A (p.Glu1716=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941135T>A | CA400613790 | SCN4A | c.5147A>T (p.Glu1716Val)
| |
17 | g.63941135T>C | CA400613792 | SCN4A | c.5147A>G (p.Glu1716Gly)
| |
17 | g.63941135T>G | CA400613794 | SCN4A | c.5147A>C (p.Glu1716Ala)
| |
17 | g.63941136C>A | CA400613799 | SCN4A | c.5146G>T (p.Glu1716Ter)
| dbSNP |
17 | g.63941136C= | CA2270160796 | SCN4A | c.5146G= (p.Glu1716=)
| |
17 | g.63941136C>G | CA400613803 | SCN4A | c.5146G>C (p.Glu1716Gln)
| |
17 | g.63941136C>T | CA8708830 | SCN4A | c.5146G>A (p.Glu1716Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941137G>A | CA8708831 | SCN4A | c.5145C>T (p.Tyr1715=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941137G>C | CA400613807 | SCN4A | c.5145C>G (p.Tyr1715Ter)
| |
17 | g.63941137G= | CA2270160797 | SCN4A | c.5145C= (p.Tyr1715=)
| |
17 | g.63941137G>T | CA400613810 | SCN4A | c.5145C>A (p.Tyr1715Ter)
| |
17 | g.63941138T>A | CA400613812 | SCN4A | c.5144A>T (p.Tyr1715Phe)
| |
17 | g.63941138T>C | CA400613815 | SCN4A | c.5144A>G (p.Tyr1715Cys)
| |
17 | g.63941138T>G | CA400613817 | SCN4A | c.5144A>C (p.Tyr1715Ser)
| gnomAD v4 |
17 | g.63941139A>C | CA400613822 | SCN4A | c.5143T>G (p.Tyr1715Asp)
| |
17 | g.63941139A>G | CA400613823 | SCN4A | c.5143T>C (p.Tyr1715His)
| |
17 | g.63941139A>T | CA400613824 | SCN4A | c.5143T>A (p.Tyr1715Asn)
| |
17 | g.63941140G>A | CA501348316 | SCN4A | c.5142C>T (p.Ser1714=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941140G>C | CA501348319 | SCN4A | c.5142C>G (p.Ser1714=)
| |
17 | g.63941140G>T | CA501348321 | SCN4A | c.5142C>A (p.Ser1714=)
| |
17 | g.63941141G>A | CA400613827 | SCN4A | c.5141C>T (p.Ser1714Phe)
| |
17 | g.63941141G>C | CA400613830 | SCN4A | c.5141C>G (p.Ser1714Cys)
| gnomAD v4 |
17 | g.63941141G>T | CA400613833 | SCN4A | c.5141C>A (p.Ser1714Tyr)
| |
17 | g.63941142A>C | CA400613838 | SCN4A | c.5140T>G (p.Ser1714Ala)
| |
17 | g.63941142A>G | CA400613839 | SCN4A | c.5140T>C (p.Ser1714Pro)
| |
17 | g.63941142A>T | CA400613837 | SCN4A | c.5140T>A (p.Ser1714Thr)
| |
17 | g.63941143C>A | CA501348322 | SCN4A | c.5139G>T (p.Val1713=)
| COSMIC |
17 | g.63941143C= | CA2270160798 | SCN4A | c.5139G= (p.Val1713=)
| |
17 | g.63941143C>G | CA501348324 | SCN4A | c.5139G>C (p.Val1713=)
| |
17 | g.63941143C>T | CA501348323 | SCN4A | c.5139G>A (p.Val1713=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941144A>C | CA400613840 | SCN4A | c.5138T>G (p.Val1713Gly)
| |
17 | g.63941144A>G | CA400613841 | SCN4A | c.5138T>C (p.Val1713Ala)
| |
17 | g.63941144A>T | CA400613842 | SCN4A | c.5138T>A (p.Val1713Glu)
| |
17 | g.63941145C>A | CA400613844 | SCN4A | c.5137G>T (p.Val1713Leu)
| |
17 | g.63941145C>G | CA400613846 | SCN4A | c.5137G>C (p.Val1713Leu)
| |
17 | g.63941145C>T | CA400613848 | SCN4A | c.5137G>A (p.Val1713Met)
| |
17 | g.63941146C>A | CA400613855 | SCN4A | c.5136G>T (p.Lys1712Asn)
| dbSNP |
17 | g.63941146C= | CA2270160799 | SCN4A | c.5136G= (p.Lys1712=)
| |
17 | g.63941146C>G | CA400613852 | SCN4A | c.5136G>C (p.Lys1712Asn)
| |
17 | g.63941146C>T | CA501348325 | SCN4A | c.5136G>A (p.Lys1712=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941147T>A | CA400613859 | SCN4A | c.5135A>T (p.Lys1712Met)
| |
17 | g.63941147T>C | CA400613862 | SCN4A | c.5135A>G (p.Lys1712Arg)
| |
17 | g.63941147T>G | CA400613865 | SCN4A | c.5135A>C (p.Lys1712Thr)
| |
17 | g.63941148T>A | CA400613868 | SCN4A | c.5134A>T (p.Lys1712Ter)
| dbSNP |
17 | g.63941148T>C | CA400613869 | SCN4A | c.5134A>G (p.Lys1712Glu)
| gnomAD v4 COSMIC |
17 | g.63941148T>G | CA400613871 | SCN4A | c.5134A>C (p.Lys1712Gln)
| |
17 | g.63941148T= | CA2270160800 | SCN4A | c.5134A= (p.Lys1712=)
| |
17 | g.63941149G>A | CA8708832 | SCN4A | c.5133C>T (p.Ser1711=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941149G>C | CA501348333 | SCN4A | c.5133C>G (p.Ser1711=)
| |
17 | g.63941149G= | CA2270160801 | SCN4A | c.5133C= (p.Ser1711=)
| |
17 | g.63941149G>T | CA501348334 | SCN4A | c.5133C>A (p.Ser1711=)
| |
17 | g.63941150G>A | CA292956504 | SCN4A | c.5132C>T (p.Ser1711Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941150G>C | CA400613880 | SCN4A | c.5132C>G (p.Ser1711Cys)
| |
17 | g.63941150G= | CA2270160802 | SCN4A | c.5132C= (p.Ser1711=)
| |
17 | g.63941150G>T | CA400613876 | SCN4A | c.5132C>A (p.Ser1711Tyr)
| gnomAD v4 COSMIC |
17 | g.63941151A>C | CA400613886 | SCN4A | c.5131T>G (p.Ser1711Ala)
| |
17 | g.63941151A>G | CA400613883 | SCN4A | c.5131T>C (p.Ser1711Pro)
| |
17 | g.63941151A>T | CA400613889 | SCN4A | c.5131T>A (p.Ser1711Thr)
| |
17 | g.63941152G>A | CA501348341 | SCN4A | c.5130C>T (p.Pro1710=)
| ClinVar |
17 | g.63941152G>C | CA501348342 | SCN4A | c.5130C>G (p.Pro1710=)
| |
17 | g.63941152G>T | CA501348344 | SCN4A | c.5130C>A (p.Pro1710=)
| |
17 | g.63941153G>A | CA400613894 | SCN4A | c.5129C>T (p.Pro1710Leu)
| dbSNP gnomAD v4 |
17 | g.63941153G>C | CA400613899 | SCN4A | c.5129C>G (p.Pro1710Arg)
| |
17 | g.63941153G= | CA2270160803 | SCN4A | c.5129C= (p.Pro1710=)
| |
17 | g.63941153G>T | CA400613896 | SCN4A | c.5129C>A (p.Pro1710His)
| |
17 | g.63941154G>A | CA8708833 | SCN4A | c.5128C>T (p.Pro1710Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941154G>C | CA400613904 | SCN4A | c.5128C>G (p.Pro1710Ala)
| |
17 | g.63941154G= | CA2270160804 | SCN4A | c.5128C= (p.Pro1710=)
| |
17 | g.63941154G>T | CA400613905 | SCN4A | c.5128C>A (p.Pro1710Thr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941154_63941162delinsACA | CA2580094603 | SCN4A | c.5120_5128delinsTGT (p.Ala1707_Pro1710delinsValSer)
| ClinVar dbSNP |
17 | g.63941155G>A | CA501348349 | SCN4A | c.5127C>T (p.Asn1709=)
| gnomAD v4 |
17 | g.63941155G>C | CA400613909 | SCN4A | c.5127C>G (p.Asn1709Lys)
| |
17 | g.63941155G= | CA2270160805 | SCN4A | c.5127C= (p.Asn1709=)
| |
17 | g.63941155G>T | CA292956520 | SCN4A | c.5127C>A (p.Asn1709Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941156T>A | CA400613914 | SCN4A | c.5126A>T (p.Asn1709Ile)
| |
17 | g.63941156T>C | CA8708834 | SCN4A | c.5126A>G (p.Asn1709Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941156T>G | CA400613918 | SCN4A | c.5126A>C (p.Asn1709Thr)
| dbSNP |
17 | g.63941156T= | CA2270160806 | SCN4A | c.5126A= (p.Asn1709=)
| |
17 | g.63941157T>A | CA400613921 | SCN4A | c.5125A>T (p.Asn1709Tyr)
| |
17 | g.63941157T>C | CA400613924 | SCN4A | c.5125A>G (p.Asn1709Asp)
| |
17 | g.63941157T>G | CA400613927 | SCN4A | c.5125A>C (p.Asn1709His)
| ClinVar gnomAD v4 |
17 | g.63941158G>A | CA501348353 | SCN4A | c.5124C>T (p.Ala1708=)
| ClinVar dbSNP |
17 | g.63941158G>C | CA501348354 | SCN4A | c.5124C>G (p.Ala1708=)
| |
17 | g.63941158G= | CA2270160807 | SCN4A | c.5124C= (p.Ala1708=)
| |
17 | g.63941158G>T | CA501348355 | SCN4A | c.5124C>A (p.Ala1708=)
| |
17 | g.63941159G>A | CA400613935 | SCN4A | c.5123C>T (p.Ala1708Val)
| |
17 | g.63941159G>C | CA400613932 | SCN4A | c.5123C>G (p.Ala1708Gly)
| dbSNP |
17 | g.63941159G= | CA2270160808 | SCN4A | c.5123C= (p.Ala1708=)
| |
17 | g.63941159G>T | CA400613929 | SCN4A | c.5123C>A (p.Ala1708Asp)
| |
17 | g.63941160C>A | CA400613939 | SCN4A | c.5122G>T (p.Ala1708Ser)
| |
17 | g.63941160C>G | CA400613942 | SCN4A | c.5122G>C (p.Ala1708Pro)
| |
17 | g.63941160C>T | CA400613944 | SCN4A | c.5122G>A (p.Ala1708Thr)
| |
17 | g.63941161T>A | CA501348358 | SCN4A | c.5121A>T (p.Ala1707=)
| |
17 | g.63941161T>C | CA501348360 | SCN4A | c.5121A>G (p.Ala1707=)
| dbSNP |
17 | g.63941161T>G | CA501348361 | SCN4A | c.5121A>C (p.Ala1707=)
| gnomAD v4 |
17 | g.63941161T= | CA2270160809 | SCN4A | c.5121A= (p.Ala1707=)
| |
17 | g.63941162G>A | CA400613949 | SCN4A | c.5120C>T (p.Ala1707Val)
| ClinVar gnomAD v4 |
17 | g.63941162G>C | CA400613952 | SCN4A | c.5120C>G (p.Ala1707Gly)
| |
17 | g.63941162G>T | CA400613955 | SCN4A | c.5120C>A (p.Ala1707Glu)
| |
17 | g.63941163C>A | CA400613957 | SCN4A | c.5119G>T (p.Ala1707Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941163C= | CA2270160810 | SCN4A | c.5119G= (p.Ala1707=)
| |
17 | g.63941163C>G | CA400613960 | SCN4A | c.5119G>C (p.Ala1707Pro)
| |
17 | g.63941163C>T | CA400613963 | SCN4A | c.5119G>A (p.Ala1707Thr)
| |
17 | g.63941164C>A | CA400613966 | SCN4A | c.5118G>T (p.Met1706Ile)
| |
17 | g.63941164C>G | CA400613969 | SCN4A | c.5118G>C (p.Met1706Ile)
| |
17 | g.63941164C>T | CA400613972 | SCN4A | c.5118G>A (p.Met1706Ile)
| |
17 | g.63941165A= | CA2270160811 | SCN4A | c.5117T= (p.Met1706=)
| |
17 | g.63941165A>C | CA400613978 | SCN4A | c.5117T>G (p.Met1706Arg)
| |
17 | g.63941165A>G | CA8708835 | SCN4A | c.5117T>C (p.Met1706Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941165A>T | CA400613975 | SCN4A | c.5117T>A (p.Met1706Lys)
| |
17 | g.63941166T>A | CA400613985 | SCN4A | c.5116A>T (p.Met1706Leu)
| gnomAD v4 |
17 | g.63941166T>C | CA400613981 | SCN4A | c.5116A>G (p.Met1706Val)
| |
17 | g.63941166T>G | CA400613984 | SCN4A | c.5116A>C (p.Met1706Leu)
| |
17 | g.63941167G>A | CA501348369 | SCN4A | c.5115C>T (p.Phe1705=)
| |
17 | g.63941167G>C | CA400613988 | SCN4A | c.5115C>G (p.Phe1705Leu)
| |
17 | g.63941167G= | CA2270160812 | SCN4A | c.5115C= (p.Phe1705=)
| |
17 | g.63941167G>T | CA400613990 | SCN4A | c.5115C>A (p.Phe1705Leu)
| ClinVar dbSNP |
17 | g.63941168A>C | CA400613992 | SCN4A | c.5114T>G (p.Phe1705Cys)
| |
17 | g.63941168A>G | CA400613995 | SCN4A | c.5114T>C (p.Phe1705Ser)
| |
17 | g.63941168A>T | CA400613997 | SCN4A | c.5114T>A (p.Phe1705Tyr)
| |
17 | g.63941169A= | CA2270160813 | SCN4A | c.5113T= (p.Phe1705=)
| |
17 | g.63941169A>C | CA400614000 | SCN4A | c.5113T>G (p.Phe1705Val)
| |
17 | g.63941169A>G | CA400614003 | SCN4A | c.5113T>C (p.Phe1705Leu)
| gnomAD v4 |
17 | g.63941169A>T | CA16620553 | SCN4A | c.5113T>A (p.Phe1705Ile)
| ClinVar dbSNP |
17 | g.63941169_63941172delinsACTT | CA2270160814 | SCN4A | c.5110_5113delinsAAGT (p.Lys1704=)
| |
17 | g.63941170C>A | CA400614007 | SCN4A | c.5112G>T (p.Lys1704Asn)
| |
17 | g.63941170C>G | CA400614009 | SCN4A | c.5112G>C (p.Lys1704Asn)
| |
17 | g.63941170C>T | CA501348371 | SCN4A | c.5112G>A (p.Lys1704=)
| |
17 | g.63941172_63941174del | CA915950729 | SCN4A | c.5110_5112del (p.Lys1704del)
| ClinVar dbSNP |
17 | g.63941171T>A | CA400614015 | SCN4A | c.5111A>T (p.Lys1704Met)
| |
17 | g.63941171T>C | CA400614013 | SCN4A | c.5111A>G (p.Lys1704Arg)
| |
17 | g.63941171T>G | CA400614011 | SCN4A | c.5111A>C (p.Lys1704Thr)
| |
17 | g.63941172T>A | CA400614018 | SCN4A | c.5110A>T (p.Lys1704Ter)
| dbSNP |
17 | g.63941172T>C | CA400614021 | SCN4A | c.5110A>G (p.Lys1704Glu)
| |
17 | g.63941172T>G | CA400614023 | SCN4A | c.5110A>C (p.Lys1704Gln)
| |
17 | g.63941172T= | CA2270160815 | SCN4A | c.5110A= (p.Lys1704=)
| |
17 | g.63941172_63941175delinsTCTC | CA2270160816 | SCN4A | c.5107_5110delinsGAGA (p.Glu1703=)
| |
17 | g.63941175_63941186del | CA2695226826 | SCN4A | c.5099_5110del (p.Thr1700_Glu1703del)
| |
17 | g.63941173C>A | CA400614026 | SCN4A | c.5109G>T (p.Glu1703Asp)
| |
17 | g.63941173C>G | CA400614029 | SCN4A | c.5109G>C (p.Glu1703Asp)
| |
17 | g.63941173C>T | CA501348375 | SCN4A | c.5109G>A (p.Glu1703=)
| |
17 | g.63941177_63941179del | CA627150279 | SCN4A | c.5107_5109del (p.Glu1703del)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941174T>A | CA400614032 | SCN4A | c.5108A>T (p.Glu1703Val)
| |
17 | g.63941174T>C | CA400614034 | SCN4A | c.5108A>G (p.Glu1703Gly)
| |
17 | g.63941174T>G | CA400614038 | SCN4A | c.5108A>C (p.Glu1703Ala)
| |
17 | g.63941175C>A | CA400614041 | SCN4A | c.5107G>T (p.Glu1703Ter)
| dbSNP |
17 | g.63941175C= | CA2270160817 | SCN4A | c.5107G= (p.Glu1703=)
| |
17 | g.63941175C>G | CA400614044 | SCN4A | c.5107G>C (p.Glu1703Gln)
| |
17 | g.63941175C>T | CA400614047 | SCN4A | c.5107G>A (p.Glu1703Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941176C>A | CA400614051 | SCN4A | c.5106G>T (p.Glu1702Asp)
| |
17 | g.63941176C>G | CA400614054 | SCN4A | c.5106G>C (p.Glu1702Asp)
| gnomAD v4 |
17 | g.63941176C>T | CA501348378 | SCN4A | c.5106G>A (p.Glu1702=)
| |
17 | g.63941177T>A | CA400614061 | SCN4A | c.5105A>T (p.Glu1702Val)
| ClinVar dbSNP |
17 | g.63941177T>C | CA400614062 | SCN4A | c.5105A>G (p.Glu1702Gly)
| ClinVar dbSNP |
17 | g.63941177T>G | CA400614058 | SCN4A | c.5105A>C (p.Glu1702Ala)
| |
17 | g.63941177T= | CA2270160818 | SCN4A | c.5105A= (p.Glu1702=)
| |
17 | g.63941178C>A | CA400614065 | SCN4A | c.5104G>T (p.Glu1702Ter)
| dbSNP |
17 | g.63941178C= | CA2270160819 | SCN4A | c.5104G= (p.Glu1702=)
| |
17 | g.63941178C>G | CA400614068 | SCN4A | c.5104G>C (p.Glu1702Gln)
| |
17 | g.63941178C>T | CA400614067 | SCN4A | c.5104G>A (p.Glu1702Lys)
| ClinVar dbSNP |
17 | g.63941179C>A | CA400614071 | SCN4A | c.5103G>T (p.Met1701Ile)
| |
17 | g.63941179C>G | CA400614073 | SCN4A | c.5103G>C (p.Met1701Ile)
| |
17 | g.63941179C>T | CA400614075 | SCN4A | c.5103G>A (p.Met1701Ile)
| gnomAD v4 |
17 | g.63941180A>C | CA400614077 | SCN4A | c.5102T>G (p.Met1701Arg)
| |
17 | g.63941180A>G | CA400614078 | SCN4A | c.5102T>C (p.Met1701Thr)
| ClinVar dbSNP |
17 | g.63941180A>T | CA400614080 | SCN4A | c.5102T>A (p.Met1701Lys)
| |
17 | g.63941181T>A | CA400614083 | SCN4A | c.5101A>T (p.Met1701Leu)
| |
17 | g.63941181T>C | CA400614084 | SCN4A | c.5101A>G (p.Met1701Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941181T>G | CA400614086 | SCN4A | c.5101A>C (p.Met1701Leu)
| |
17 | g.63941181T= | CA2270160820 | SCN4A | c.5101A= (p.Met1701=)
| |
17 | g.63941182G>A | CA501348383 | SCN4A | c.5100C>T (p.Thr1700=)
| COSMIC |
17 | g.63941182G>C | CA501348384 | SCN4A | c.5100C>G (p.Thr1700=)
| |
17 | g.63941182G>T | CA501348385 | SCN4A | c.5100C>A (p.Thr1700=)
| |
17 | g.63941183G>A | CA400614089 | SCN4A | c.5099C>T (p.Thr1700Ile)
| |
17 | g.63941183G>C | CA400614090 | SCN4A | c.5099C>G (p.Thr1700Ser)
| |
17 | g.63941183G>T | CA400614092 | SCN4A | c.5099C>A (p.Thr1700Asn)
| |
17 | g.63941184T>A | CA400614097 | SCN4A | c.5098A>T (p.Thr1700Ser)
| |
17 | g.63941184T>C | CA400614094 | SCN4A | c.5098A>G (p.Thr1700Ala)
| gnomAD v4 |
17 | g.63941184T>G | CA400614096 | SCN4A | c.5098A>C (p.Thr1700Pro)
| |
17 | g.63941184_63941185insGTCCTACGAGCCCACCACCACCC | CA2810127820 | SCN4A | c.5097_5098insGGGTGGTGGTGGGCTCGTAGGAC (p.Thr1700GlyfsTer?)
| |
17 | g.63941185C>A | CA400614099 | SCN4A | c.5097G>T (p.Gln1699His)
| |
17 | g.63941185C>G | CA400614101 | SCN4A | c.5097G>C (p.Gln1699His)
| gnomAD v4 |
17 | g.63941185C>T | CA501348392 | SCN4A | c.5097G>A (p.Gln1699=)
| |
17 | g.63941186T>A | CA400614105 | SCN4A | c.5096A>T (p.Gln1699Leu)
| |
17 | g.63941186T>C | CA400614107 | SCN4A | c.5096A>G (p.Gln1699Arg)
| |
17 | g.63941186T>G | CA400614109 | SCN4A | c.5096A>C (p.Gln1699Pro)
| |
17 | g.63941187G>A | CA400614111 | SCN4A | c.5095C>T (p.Gln1699Ter)
| |
17 | g.63941187G>C | CA400614112 | SCN4A | c.5095C>G (p.Gln1699Glu)
| |
17 | g.63941187G>T | CA400614114 | SCN4A | c.5095C>A (p.Gln1699Lys)
| |
17 | g.63941188C>A | CA400614116 | SCN4A | c.5094G>T (p.Lys1698Asn)
| |
17 | g.63941188C>G | CA400614118 | SCN4A | c.5094G>C (p.Lys1698Asn)
| |
17 | g.63941188C>T | CA501348396 | SCN4A | c.5094G>A (p.Lys1698=)
| |
17 | g.63941189T>A | CA400614122 | SCN4A | c.5093A>T (p.Lys1698Met)
| |
17 | g.63941189T>C | CA400614121 | SCN4A | c.5093A>G (p.Lys1698Arg)
| |
17 | g.63941189T>G | CA400614119 | SCN4A | c.5093A>C (p.Lys1698Thr)
| |
17 | g.63941190T>A | CA400614125 | SCN4A | c.5092A>T (p.Lys1698Ter)
| dbSNP |
17 | g.63941190T>C | CA400614126 | SCN4A | c.5092A>G (p.Lys1698Glu)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941190T>G | CA400614129 | SCN4A | c.5092A>C (p.Lys1698Gln)
| |
17 | g.63941190T= | CA2270160821 | SCN4A | c.5092A= (p.Lys1698=)
| |
17 | g.63941191G>A | CA501348402 | SCN4A | c.5091C>T (p.Leu1697=)
| dbSNP |
17 | g.63941191G>C | CA501348403 | SCN4A | c.5091C>G (p.Leu1697=)
| gnomAD v4 |
17 | g.63941191G= | CA2270160822 | SCN4A | c.5091C= (p.Leu1697=)
| |
17 | g.63941191G>T | CA501348404 | SCN4A | c.5091C>A (p.Leu1697=)
| |
17 | g.63941192A>C | CA400614131 | SCN4A | c.5090T>G (p.Leu1697Arg)
| |
17 | g.63941192A>G | CA400614133 | SCN4A | c.5090T>C (p.Leu1697Pro)
| |
17 | g.63941192A>T | CA400614135 | SCN4A | c.5090T>A (p.Leu1697His)
| |
17 | g.63941193G>A | CA400614138 | SCN4A | c.5089C>T (p.Leu1697Phe)
| |
17 | g.63941193G>C | CA400614140 | SCN4A | c.5089C>G (p.Leu1697Val)
| gnomAD v4 |
17 | g.63941193G>T | CA400614141 | SCN4A | c.5089C>A (p.Leu1697Ile)
| |
17 | g.63941194G>A | CA8708836 | SCN4A | c.5088C>T (p.Ala1696=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941194G>C | CA501348408 | SCN4A | c.5088C>G (p.Ala1696=)
| |
17 | g.63941194G= | CA2270160823 | SCN4A | c.5088C= (p.Ala1696=)
| |
17 | g.63941194G>T | CA501348409 | SCN4A | c.5088C>A (p.Ala1696=)
| |
17 | g.63941195G>A | CA400614144 | SCN4A | c.5087C>T (p.Ala1696Val)
| |
17 | g.63941195G>C | CA400614145 | SCN4A | c.5087C>G (p.Ala1696Gly)
| |
17 | g.63941195G>T | CA400614146 | SCN4A | c.5087C>A (p.Ala1696Asp)
| |
17 | g.63941196C>A | CA8708838 | SCN4A | c.5086G>T (p.Ala1696Ser)
| dbSNP ExAC gnomAD v2 |
17 | g.63941196C= | CA2270160824 | SCN4A | c.5086G= (p.Ala1696=)
| |
17 | g.63941196C>G | CA400614148 | SCN4A | c.5086G>C (p.Ala1696Pro)
| |
17 | g.63941196C>T | CA8708837 | SCN4A | c.5086G>A (p.Ala1696Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941197_63941200del | CA2639322833 | SCN4A | c.5083_5086del (p.Asp1695ProfsTer?)
| gnomAD v4 |
17 | g.63941197G>A | CA8708839 | SCN4A | c.5085C>T (p.Asp1695=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941197G>C | CA400614155 | SCN4A | c.5085C>G (p.Asp1695Glu)
| |
17 | g.63941197G= | CA2270160825 | SCN4A | c.5085C= (p.Asp1695=)
| |
17 | g.63941197G>T | CA400614157 | SCN4A | c.5085C>A (p.Asp1695Glu)
| |
17 | g.63941198T>A | CA400614159 | SCN4A | c.5084A>T (p.Asp1695Val)
| |
17 | g.63941198T>C | CA400614161 | SCN4A | c.5084A>G (p.Asp1695Gly)
| |
17 | g.63941198T>G | CA400614164 | SCN4A | c.5084A>C (p.Asp1695Ala)
| |
17 | g.63941199C>A | CA400614168 | SCN4A | c.5083G>T (p.Asp1695Tyr)
| |
17 | g.63941199C= | CA2270160826 | SCN4A | c.5083G= (p.Asp1695=)
| |
17 | g.63941199C>G | CA8708840 | SCN4A | c.5083G>C (p.Asp1695His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941199C>T | CA400614173 | SCN4A | c.5083G>A (p.Asp1695Asn)
| |
17 | g.63941200C>A | CA400614178 | SCN4A | c.5082G>T (p.Met1694Ile)
| |
17 | g.63941200C>G | CA400614180 | SCN4A | c.5082G>C (p.Met1694Ile)
| |
17 | g.63941200C>T | CA400614182 | SCN4A | c.5082G>A (p.Met1694Ile)
| COSMIC |
17 | g.63941201A>C | CA400614188 | SCN4A | c.5081T>G (p.Met1694Arg)
| |
17 | g.63941201A>G | CA400614186 | SCN4A | c.5081T>C (p.Met1694Thr)
| |
17 | g.63941201A>T | CA400614184 | SCN4A | c.5081T>A (p.Met1694Lys)
| |
17 | g.63941202T>A | CA400614190 | SCN4A | c.5080A>T (p.Met1694Leu)
| |
17 | g.63941202T>C | CA400614189 | SCN4A | c.5080A>G (p.Met1694Val)
| |
17 | g.63941202T>G | CA400614191 | SCN4A | c.5080A>C (p.Met1694Leu)
| |
17 | g.63941203T>A | CA400614193 | SCN4A | c.5079A>T (p.Glu1693Asp)
| |
17 | g.63941203T>C | CA501348417 | SCN4A | c.5079A>G (p.Glu1693=)
| |
17 | g.63941203T>G | CA400614195 | SCN4A | c.5079A>C (p.Glu1693Asp)
| |
17 | g.63941204T>A | CA400614198 | SCN4A | c.5078A>T (p.Glu1693Val)
| |
17 | g.63941204T>C | CA400614201 | SCN4A | c.5078A>G (p.Glu1693Gly)
| |
17 | g.63941204T>G | CA400614203 | SCN4A | c.5078A>C (p.Glu1693Ala)
| |
17 | g.63941205C>A | CA400614205 | SCN4A | c.5077G>T (p.Glu1693Ter)
| dbSNP COSMIC |
17 | g.63941205C= | CA2270160827 | SCN4A | c.5077G= (p.Glu1693=)
| |
17 | g.63941205C>G | CA400614207 | SCN4A | c.5077G>C (p.Glu1693Gln)
| |
17 | g.63941205C>T | CA400614210 | SCN4A | c.5077G>A (p.Glu1693Lys)
| COSMIC |
17 | g.63941206C>A | CA501348421 | SCN4A | c.5076G>T (p.Gly1692=)
| |
17 | g.63941206C>G | CA501348422 | SCN4A | c.5076G>C (p.Gly1692=)
| |
17 | g.63941206C>T | CA501348423 | SCN4A | c.5076G>A (p.Gly1692=)
| COSMIC |
17 | g.63941207C>A | CA400614212 | SCN4A | c.5075G>T (p.Gly1692Val)
| |
17 | g.63941207C= | CA2270160828 | SCN4A | c.5075G= (p.Gly1692=)
| |
17 | g.63941207C>G | CA8708841 | SCN4A | c.5075G>C (p.Gly1692Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941207C>T | CA400614215 | SCN4A | c.5075G>A (p.Gly1692Glu)
| |
17 | g.63941208C>A | CA292956585 | SCN4A | c.5074G>T (p.Gly1692Trp)
| dbSNP |
17 | g.63941208C= | CA2270160829 | SCN4A | c.5074G= (p.Gly1692=)
| |
17 | g.63941208C>G | CA400614216 | SCN4A | c.5074G>C (p.Gly1692Arg)
| |
17 | g.63941208C>T | CA292956588 | SCN4A | c.5074G>A (p.Gly1692Arg)
| dbSNP |
17 | g.63941209A= | CA2270160830 | SCN4A | c.5073T= (p.Ser1691=)
| |
17 | g.63941209A>C | CA501348427 | SCN4A | c.5073T>G (p.Ser1691=)
| |
17 | g.63941209A>G | CA501348428 | SCN4A | c.5073T>C (p.Ser1691=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941209A>T | CA501348429 | SCN4A | c.5073T>A (p.Ser1691=)
| |
17 | g.63941210G>A | CA400614219 | SCN4A | c.5072C>T (p.Ser1691Phe)
| |
17 | g.63941210G>C | CA400614218 | SCN4A | c.5072C>G (p.Ser1691Cys)
| |
17 | g.63941210G>T | CA400614217 | SCN4A | c.5072C>A (p.Ser1691Tyr)
| |
17 | g.63941211A>C | CA400614220 | SCN4A | c.5071T>G (p.Ser1691Ala)
| |
17 | g.63941211A>G | CA400614221 | SCN4A | c.5071T>C (p.Ser1691Pro)
| |
17 | g.63941211A>T | CA400614222 | SCN4A | c.5071T>A (p.Ser1691Thr)
| |
17 | g.63941212G>A | CA8708842 | SCN4A | c.5070C>T (p.Asp1690=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941212G>C | CA400614223 | SCN4A | c.5070C>G (p.Asp1690Glu)
| |
17 | g.63941212G= | CA2270160831 | SCN4A | c.5070C= (p.Asp1690=)
| |
17 | g.63941212G>T | CA400614224 | SCN4A | c.5070C>A (p.Asp1690Glu)
| |
17 | g.63941213T>A | CA400614225 | SCN4A | c.5069A>T (p.Asp1690Val)
| |
17 | g.63941213T>C | CA400614226 | SCN4A | c.5069A>G (p.Asp1690Gly)
| gnomAD v4 |
17 | g.63941213T>G | CA400614227 | SCN4A | c.5069A>C (p.Asp1690Ala)
| gnomAD v4 |
17 | g.63941214C>A | CA400614228 | SCN4A | c.5068G>T (p.Asp1690Tyr)
| |
17 | g.63941214C>G | CA400614229 | SCN4A | c.5068G>C (p.Asp1690His)
| |
17 | g.63941214C>T | CA400614230 | SCN4A | c.5068G>A (p.Asp1690Asn)
| |
17 | g.63941215A>C | CA501347972 | SCN4A | c.5067T>G (p.Gly1689=)
| |
17 | g.63941215A>G | CA501347976 | SCN4A | c.5067T>C (p.Gly1689=)
| |
17 | g.63941215A>T | CA501347978 | SCN4A | c.5067T>A (p.Gly1689=)
| |
17 | g.63941216C>A | CA400614232 | SCN4A | c.5066G>T (p.Gly1689Val)
| |
17 | g.63941216C= | CA2270160832 | SCN4A | c.5066G= (p.Gly1689=)
| |
17 | g.63941216C>G | CA8708843 | SCN4A | c.5066G>C (p.Gly1689Ala)
| dbSNP ExAC gnomAD v2 |
17 | g.63941216C>T | CA400614231 | SCN4A | c.5066G>A (p.Gly1689Asp)
| gnomAD v4 |