17 | g.63941742C>A | CA400615800 | SCN4A | c.4540G>T (p.Asp1514Tyr)
| |
17 | g.63941742C= | CA2270161082 | SCN4A | c.4540G= (p.Asp1514=)
| |
17 | g.63941742C>G | CA8708947 | SCN4A | c.4540G>C (p.Asp1514His)
| dbSNP ExAC |
17 | g.63941742C>T | CA292957087 | SCN4A | c.4540G>A (p.Asp1514Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941743G>A | CA292957099 | SCN4A | c.4539C>T (p.Ile1513=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941743G>C | CA292957092 | SCN4A | c.4539C>G (p.Ile1513Met)
| dbSNP |
17 | g.63941743G= | CA2270161083 | SCN4A | c.4539C= (p.Ile1513=)
| |
17 | g.63941743G>T | CA146049 | SCN4A | c.4539C>A (p.Ile1513=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941744A= | CA2270161084 | SCN4A | c.4538T= (p.Ile1513=)
| |
17 | g.63941744A>C | CA400615801 | SCN4A | c.4538T>G (p.Ile1513Ser)
| |
17 | g.63941744A>G | CA400615802 | SCN4A | c.4538T>C (p.Ile1513Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941744A>T | CA400615803 | SCN4A | c.4538T>A (p.Ile1513Asn)
| |
17 | g.63941745T>A | CA400615804 | SCN4A | c.4537A>T (p.Ile1513Phe)
| |
17 | g.63941745T>C | CA400615805 | SCN4A | c.4537A>G (p.Ile1513Val)
| gnomAD v4 |
17 | g.63941745T>G | CA400615806 | SCN4A | c.4537A>C (p.Ile1513Leu)
| |
17 | g.63941746G>A | CA501348201 | SCN4A | c.4536C>T (p.Gly1512=)
| |
17 | g.63941746G>C | CA501348203 | SCN4A | c.4536C>G (p.Gly1512=)
| |
17 | g.63941746G>T | CA501348204 | SCN4A | c.4536C>A (p.Gly1512=)
| |
17 | g.63941747C>A | CA400615809 | SCN4A | c.4535G>T (p.Gly1512Val)
| |
17 | g.63941747C>G | CA400615807 | SCN4A | c.4535G>C (p.Gly1512Ala)
| |
17 | g.63941747C>T | CA400615808 | SCN4A | c.4535G>A (p.Gly1512Asp)
| COSMIC |
17 | g.63941748C>A | CA400615810 | SCN4A | c.4534G>T (p.Gly1512Cys)
| |
17 | g.63941748C= | CA2270161085 | SCN4A | c.4534G= (p.Gly1512=)
| |
17 | g.63941748C>G | CA400615811 | SCN4A | c.4534G>C (p.Gly1512Arg)
| |
17 | g.63941748C>T | CA400615812 | SCN4A | c.4534G>A (p.Gly1512Ser)
| dbSNP |
17 | g.63941749C>A | CA501348205 | SCN4A | c.4533G>T (p.Ser1511=)
| |
17 | g.63941749C= | CA2270161086 | SCN4A | c.4533G= (p.Ser1511=)
| |
17 | g.63941749C>G | CA501348206 | SCN4A | c.4533G>C (p.Ser1511=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941749C>T | CA8708948 | SCN4A | c.4533G>A (p.Ser1511=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941750G>A | CA8708949 | SCN4A | c.4532C>T (p.Ser1511Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941750G>C | CA400615813 | SCN4A | c.4532C>G (p.Ser1511Trp)
| |
17 | g.63941750G= | CA2270161087 | SCN4A | c.4532C= (p.Ser1511=)
| |
17 | g.63941750G>T | CA400615814 | SCN4A | c.4532C>A (p.Ser1511Ter)
| dbSNP |
17 | g.63941751A= | CA2270161088 | SCN4A | c.4531T= (p.Ser1511=)
| |
17 | g.63941751A>C | CA400615815 | SCN4A | c.4531T>G (p.Ser1511Ala)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941751A>G | CA400615816 | SCN4A | c.4531T>C (p.Ser1511Pro)
| |
17 | g.63941751A>T | CA400615817 | SCN4A | c.4531T>A (p.Ser1511Thr)
| |
17 | g.63941752C>A | CA400615818 | SCN4A | c.4530G>T (p.Glu1510Asp)
| |
17 | g.63941752C>G | CA400615819 | SCN4A | c.4530G>C (p.Glu1510Asp)
| |
17 | g.63941752C>T | CA501348207 | SCN4A | c.4530G>A (p.Glu1510=)
| gnomAD v4 |
17 | g.63941753T>A | CA400615822 | SCN4A | c.4529A>T (p.Glu1510Val)
| |
17 | g.63941753T>C | CA400615821 | SCN4A | c.4529A>G (p.Glu1510Gly)
| |
17 | g.63941753T>G | CA400615820 | SCN4A | c.4529A>C (p.Glu1510Ala)
| |
17 | g.63941754C>A | CA400615823 | SCN4A | c.4528G>T (p.Glu1510Ter)
| dbSNP |
17 | g.63941754C= | CA2270161089 | SCN4A | c.4528G= (p.Glu1510=)
| |
17 | g.63941754C>G | CA400615825 | SCN4A | c.4528G>C (p.Glu1510Gln)
| |
17 | g.63941754C>T | CA400615824 | SCN4A | c.4528G>A (p.Glu1510Lys)
| |
17 | g.63941755C>A | CA400615826 | SCN4A | c.4527G>T (p.Lys1509Asn)
| |
17 | g.63941755C= | CA2270161090 | SCN4A | c.4527G= (p.Lys1509=)
| |
17 | g.63941755C>G | CA400615827 | SCN4A | c.4527G>C (p.Lys1509Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941755C>T | CA501348208 | SCN4A | c.4527G>A (p.Lys1509=)
| |
17 | g.63941758_63941760del | CA2639307246 | SCN4A | c.4525_4527del (p.Lys1509del)
| gnomAD v4 |
17 | g.63941756T>A | CA400615828 | SCN4A | c.4526A>T (p.Lys1509Met)
| |
17 | g.63941756T>C | CA400615829 | SCN4A | c.4526A>G (p.Lys1509Arg)
| |
17 | g.63941756T>G | CA400615830 | SCN4A | c.4526A>C (p.Lys1509Thr)
| |
17 | g.63941757T>A | CA400615831 | SCN4A | c.4525A>T (p.Lys1509Ter)
| dbSNP |
17 | g.63941757T>C | CA400615832 | SCN4A | c.4525A>G (p.Lys1509Glu)
| |
17 | g.63941757T>G | CA400615833 | SCN4A | c.4525A>C (p.Lys1509Gln)
| |
17 | g.63941757T= | CA2270161091 | SCN4A | c.4525A= (p.Lys1509=)
| |
17 | g.63941758C>A | CA400615834 | SCN4A | c.4524G>T (p.Lys1508Asn)
| |
17 | g.63941758C= | CA2270161092 | SCN4A | c.4524G= (p.Lys1508=)
| |
17 | g.63941758C>G | CA292957112 | SCN4A | c.4524G>C (p.Lys1508Asn)
| dbSNP gnomAD v4 |
17 | g.63941758C>T | CA292957113 | SCN4A | c.4524G>A (p.Lys1508=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941759T>A | CA400615837 | SCN4A | c.4523A>T (p.Lys1508Met)
| |
17 | g.63941759T>C | CA400615836 | SCN4A | c.4523A>G (p.Lys1508Arg)
| dbSNP gnomAD v4 |
17 | g.63941759T>G | CA400615835 | SCN4A | c.4523A>C (p.Lys1508Thr)
| |
17 | g.63941759T= | CA2270161093 | SCN4A | c.4523A= (p.Lys1508=)
| |
17 | g.63941760T>A | CA400615838 | SCN4A | c.4522A>T (p.Lys1508Ter)
| dbSNP |
17 | g.63941760T>C | CA400615839 | SCN4A | c.4522A>G (p.Lys1508Glu)
| ClinVar dbSNP |
17 | g.63941760T>G | CA400615840 | SCN4A | c.4522A>C (p.Lys1508Gln)
| |
17 | g.63941760T= | CA2270161094 | SCN4A | c.4522A= (p.Lys1508=)
| |
17 | g.63941761G>A | CA501348216 | SCN4A | c.4521C>T (p.Val1507=)
| |
17 | g.63941761G>C | CA501348214 | SCN4A | c.4521C>G (p.Val1507=)
| |
17 | g.63941761G>T | CA501348212 | SCN4A | c.4521C>A (p.Val1507=)
| |
17 | g.63941762A>C | CA400615841 | SCN4A | c.4520T>G (p.Val1507Gly)
| |
17 | g.63941762A>G | CA400615842 | SCN4A | c.4520T>C (p.Val1507Ala)
| |
17 | g.63941762A>T | CA400615843 | SCN4A | c.4520T>A (p.Val1507Asp)
| |
17 | g.63941763C>A | CA400615844 | SCN4A | c.4519G>T (p.Val1507Phe)
| |
17 | g.63941763C= | CA2270161095 | SCN4A | c.4519G= (p.Val1507=)
| |
17 | g.63941763C>G | CA400615845 | SCN4A | c.4519G>C (p.Val1507Leu)
| |
17 | g.63941763C>T | CA8708950 | SCN4A | c.4519G>A (p.Val1507Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941764G>A | CA8708951 | SCN4A | c.4518C>T (p.Tyr1506=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941764G>C | CA400615846 | SCN4A | c.4518C>G (p.Tyr1506Ter)
| |
17 | g.63941764G= | CA2270161096 | SCN4A | c.4518C= (p.Tyr1506=)
| |
17 | g.63941764G>T | CA400615847 | SCN4A | c.4518C>A (p.Tyr1506Ter)
| dbSNP |
17 | g.63941765T>A | CA8708952 | SCN4A | c.4517A>T (p.Tyr1506Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941765T>C | CA400615849 | SCN4A | c.4517A>G (p.Tyr1506Cys)
| dbSNP gnomAD v4 |
17 | g.63941765T>G | CA400615848 | SCN4A | c.4517A>C (p.Tyr1506Ser)
| |
17 | g.63941765T= | CA2270161097 | SCN4A | c.4517A= (p.Tyr1506=)
| |
17 | g.63941766A>C | CA400615850 | SCN4A | c.4516T>G (p.Tyr1506Asp)
| |
17 | g.63941766A>G | CA400615851 | SCN4A | c.4516T>C (p.Tyr1506His)
| ClinVar |
17 | g.63941766A>T | CA400615852 | SCN4A | c.4516T>A (p.Tyr1506Asn)
| |
17 | g.63941767G>A | CA501348217 | SCN4A | c.4515C>T (p.Ala1505=)
| |
17 | g.63941767G>C | CA501348219 | SCN4A | c.4515C>G (p.Ala1505=)
| gnomAD v4 |
17 | g.63941767G>T | CA501348218 | SCN4A | c.4515C>A (p.Ala1505=)
| |
17 | g.63941768G>A | CA400615853 | SCN4A | c.4514C>T (p.Ala1505Val)
| gnomAD v4 |
17 | g.63941768G>C | CA400615854 | SCN4A | c.4514C>G (p.Ala1505Gly)
| |
17 | g.63941768G>T | CA400615855 | SCN4A | c.4514C>A (p.Ala1505Asp)
| |
17 | g.63941769C>A | CA400615858 | SCN4A | c.4513G>T (p.Ala1505Ser)
| |
17 | g.63941769C>G | CA400615856 | SCN4A | c.4513G>C (p.Ala1505Pro)
| |
17 | g.63941769C>T | CA400615857 | SCN4A | c.4513G>A (p.Ala1505Thr)
| |
17 | g.63941770A= | CA2270161098 | SCN4A | c.4512T= (p.Phe1504=)
| |
17 | g.63941770A>C | CA400615859 | SCN4A | c.4512T>G (p.Phe1504Leu)
| |
17 | g.63941770A>G | CA501348220 | SCN4A | c.4512T>C (p.Phe1504=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941770A>T | CA400615860 | SCN4A | c.4512T>A (p.Phe1504Leu)
| |
17 | g.63941771A>C | CA400615861 | SCN4A | c.4511T>G (p.Phe1504Cys)
| |
17 | g.63941771A>G | CA400615862 | SCN4A | c.4511T>C (p.Phe1504Ser)
| |
17 | g.63941771A>T | CA400615863 | SCN4A | c.4511T>A (p.Phe1504Tyr)
| |
17 | g.63941772A>C | CA400615864 | SCN4A | c.4510T>G (p.Phe1504Val)
| |
17 | g.63941772A>G | CA400615866 | SCN4A | c.4510T>C (p.Phe1504Leu)
| |
17 | g.63941772A>T | CA400615865 | SCN4A | c.4510T>A (p.Phe1504Ile)
| |
17 | g.63941773G>A | CA501348223 | SCN4A | c.4509C>T (p.Asn1503=)
| gnomAD v4 |
17 | g.63941773G>C | CA400615867 | SCN4A | c.4509C>G (p.Asn1503Lys)
| |
17 | g.63941773G>T | CA400615868 | SCN4A | c.4509C>A (p.Asn1503Lys)
| |
17 | g.63941774T>A | CA400615869 | SCN4A | c.4508A>T (p.Asn1503Ile)
| |
17 | g.63941774T>C | CA8708953 | SCN4A | c.4508A>G (p.Asn1503Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941774T>G | CA400615870 | SCN4A | c.4508A>C (p.Asn1503Thr)
| |
17 | g.63941774T= | CA2270161099 | SCN4A | c.4508A= (p.Asn1503=)
| |
17 | g.63941775T>A | CA400615871 | SCN4A | c.4507A>T (p.Asn1503Tyr)
| |
17 | g.63941775T>C | CA400615872 | SCN4A | c.4507A>G (p.Asn1503Asp)
| ClinVar |
17 | g.63941775T>G | CA400615873 | SCN4A | c.4507A>C (p.Asn1503His)
| |
17 | g.63941776G>A | CA501348225 | SCN4A | c.4506C>T (p.Ser1502=)
| |
17 | g.63941776G>C | CA501348226 | SCN4A | c.4506C>G (p.Ser1502=)
| |
17 | g.63941776G>T | CA501348227 | SCN4A | c.4506C>A (p.Ser1502=)
| |
17 | g.63941777G>A | CA400615874 | SCN4A | c.4505C>T (p.Ser1502Phe)
| gnomAD v4 |
17 | g.63941777G>C | CA400615875 | SCN4A | c.4505C>G (p.Ser1502Cys)
| |
17 | g.63941777G>T | CA400615876 | SCN4A | c.4505C>A (p.Ser1502Tyr)
| |
17 | g.63941778A>C | CA400615879 | SCN4A | c.4504T>G (p.Ser1502Ala)
| gnomAD v4 |
17 | g.63941778A>G | CA400615878 | SCN4A | c.4504T>C (p.Ser1502Pro)
| |
17 | g.63941778A>T | CA400615877 | SCN4A | c.4504T>A (p.Ser1502Thr)
| |
17 | g.63941779C>A | CA400615880 | SCN4A | c.4503G>T (p.Met1501Ile)
| |
17 | g.63941779C= | CA2270161100 | SCN4A | c.4503G= (p.Met1501=)
| |
17 | g.63941779C>G | CA400615882 | SCN4A | c.4503G>C (p.Met1501Ile)
| gnomAD v4 |
17 | g.63941779C>T | CA400615881 | SCN4A | c.4503G>A (p.Met1501Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941780A>C | CA400615883 | SCN4A | c.4502T>G (p.Met1501Arg)
| |
17 | g.63941780A>G | CA400615885 | SCN4A | c.4502T>C (p.Met1501Thr)
| |
17 | g.63941780A>T | CA400615884 | SCN4A | c.4502T>A (p.Met1501Lys)
| |
17 | g.63941781T>A | CA400615886 | SCN4A | c.4501A>T (p.Met1501Leu)
| |
17 | g.63941781T>C | CA400615888 | SCN4A | c.4501A>G (p.Met1501Val)
| ClinVar gnomAD v4 |
17 | g.63941781T>G | CA400615887 | SCN4A | c.4501A>C (p.Met1501Leu)
| |
17 | g.63941782G>A | CA501348232 | SCN4A | c.4500C>T (p.Gly1500=)
| gnomAD v4 |
17 | g.63941782G>C | CA501348233 | SCN4A | c.4500C>G (p.Gly1500=)
| |
17 | g.63941782G>T | CA501348231 | SCN4A | c.4500C>A (p.Gly1500=)
| |
17 | g.63941783C>A | CA400615889 | SCN4A | c.4499G>T (p.Gly1500Val)
| |
17 | g.63941783C>G | CA400615890 | SCN4A | c.4499G>C (p.Gly1500Ala)
| |
17 | g.63941783C>T | CA400615891 | SCN4A | c.4499G>A (p.Gly1500Asp)
| |
17 | g.63941784C>A | CA400615892 | SCN4A | c.4498G>T (p.Gly1500Cys)
| |
17 | g.63941784C= | CA2270161101 | SCN4A | c.4498G= (p.Gly1500=)
| |
17 | g.63941784C>G | CA400615893 | SCN4A | c.4498G>C (p.Gly1500Arg)
| |
17 | g.63941784C>T | CA400615894 | SCN4A | c.4498G>A (p.Gly1500Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941785G>A | CA292957134 | SCN4A | c.4497C>T (p.Phe1499=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941785G>C | CA400615895 | SCN4A | c.4497C>G (p.Phe1499Leu)
| |
17 | g.63941785G= | CA2270161102 | SCN4A | c.4497C= (p.Phe1499=)
| |
17 | g.63941785G>T | CA400615896 | SCN4A | c.4497C>A (p.Phe1499Leu)
| |
17 | g.63941786A>C | CA400615897 | SCN4A | c.4496T>G (p.Phe1499Cys)
| |
17 | g.63941786A>G | CA400615898 | SCN4A | c.4496T>C (p.Phe1499Ser)
| |
17 | g.63941786A>T | CA400615899 | SCN4A | c.4496T>A (p.Phe1499Tyr)
| |
17 | g.63941787A>C | CA400615902 | SCN4A | c.4495T>G (p.Phe1499Val)
| |
17 | g.63941787A>G | CA400615900 | SCN4A | c.4495T>C (p.Phe1499Leu)
| dbSNP |
17 | g.63941787A>T | CA400615901 | SCN4A | c.4495T>A (p.Phe1499Ile)
| |
17 | g.63941788G>A | CA501348240 | SCN4A | c.4494C>T (p.Ile1498=)
| gnomAD v4 |
17 | g.63941788G>C | CA400615903 | SCN4A | c.4494C>G (p.Ile1498Met)
| |
17 | g.63941788G>T | CA501348241 | SCN4A | c.4494C>A (p.Ile1498=)
| |
17 | g.63941789A>C | CA400615904 | SCN4A | c.4493T>G (p.Ile1498Ser)
| |
17 | g.63941789A>G | CA400615905 | SCN4A | c.4493T>C (p.Ile1498Thr)
| |
17 | g.63941789A>T | CA400615906 | SCN4A | c.4493T>A (p.Ile1498Asn)
| |
17 | g.63941790T>A | CA400615907 | SCN4A | c.4492A>T (p.Ile1498Phe)
| dbSNP |
17 | g.63941790T>C | CA400615908 | SCN4A | c.4492A>G (p.Ile1498Val)
| gnomAD v4 |
17 | g.63941790T>G | CA400615909 | SCN4A | c.4492A>C (p.Ile1498Leu)
| |
17 | g.63941790T= | CA2270161103 | SCN4A | c.4492A= (p.Ile1498=)
| |
17 | g.63941791G>A | CA501348244 | SCN4A | c.4491C>T (p.Ser1497=)
| |
17 | g.63941791G>C | CA501348245 | SCN4A | c.4491C>G (p.Ser1497=)
| |
17 | g.63941791G>T | CA501348246 | SCN4A | c.4491C>A (p.Ser1497=)
| |
17 | g.63941792G>A | CA400615910 | SCN4A | c.4490C>T (p.Ser1497Phe)
| |
17 | g.63941792G>C | CA400615911 | SCN4A | c.4490C>G (p.Ser1497Cys)
| |
17 | g.63941792G>T | CA400615912 | SCN4A | c.4490C>A (p.Ser1497Tyr)
| ClinVar dbSNP |
17 | g.63941793A= | CA2270161104 | SCN4A | c.4489T= (p.Ser1497=)
| |
17 | g.63941793A>C | CA400615915 | SCN4A | c.4489T>G (p.Ser1497Ala)
| |
17 | g.63941793A>G | CA400615914 | SCN4A | c.4489T>C (p.Ser1497Pro)
| dbSNP |
17 | g.63941793A>T | CA400615913 | SCN4A | c.4489T>A (p.Ser1497Thr)
| |
17 | g.63941794G>A | CA501348248 | SCN4A | c.4488C>T (p.Tyr1496=)
| ClinVar dbSNP |
17 | g.63941794G>C | CA400615916 | SCN4A | c.4488C>G (p.Tyr1496Ter)
| |
17 | g.63941794G>T | CA400615917 | SCN4A | c.4488C>A (p.Tyr1496Ter)
| gnomAD v4 |
17 | g.63941795T>A | CA400615918 | SCN4A | c.4487A>T (p.Tyr1496Phe)
| |
17 | g.63941795T>C | CA400615919 | SCN4A | c.4487A>G (p.Tyr1496Cys)
| gnomAD v4 |
17 | g.63941795T>G | CA400615920 | SCN4A | c.4487A>C (p.Tyr1496Ser)
| |
17 | g.63941796A>C | CA400615921 | SCN4A | c.4486T>G (p.Tyr1496Asp)
| |
17 | g.63941796A>G | CA400615922 | SCN4A | c.4486T>C (p.Tyr1496His)
| |
17 | g.63941796A>T | CA400615923 | SCN4A | c.4486T>A (p.Tyr1496Asn)
| |
17 | g.63941797G>A | CA501348253 | SCN4A | c.4485C>T (p.Ile1495=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941797G>C | CA400615924 | SCN4A | c.4485C>G (p.Ile1495Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941797G= | CA2270161105 | SCN4A | c.4485C= (p.Ile1495=)
| |
17 | g.63941797G>T | CA501348254 | SCN4A | c.4485C>A (p.Ile1495=)
| COSMIC |
17 | g.63941798A= | CA2270161106 | SCN4A | c.4484T= (p.Ile1495=)
| |
17 | g.63941798A>C | CA400615925 | SCN4A | c.4484T>G (p.Ile1495Ser)
| |
17 | g.63941798A>G | CA400615926 | SCN4A | c.4484T>C (p.Ile1495Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941798A>T | CA400615927 | SCN4A | c.4484T>A (p.Ile1495Asn)
| |
17 | g.63941799T>A | CA341679 | SCN4A | c.4483A>T (p.Ile1495Phe)
| dbSNP |
17 | g.63941799T>C | CA400615928 | SCN4A | c.4483A>G (p.Ile1495Val)
| |
17 | g.63941799T>G | CA400615929 | SCN4A | c.4483A>C (p.Ile1495Leu)
| |
17 | g.63941799T= | CA2270161107 | SCN4A | c.4483A= (p.Ile1495=)
| |
17 | g.63941800G>A | CA501348258 | SCN4A | c.4482C>T (p.Phe1494=)
| gnomAD v4 |
17 | g.63941800G>C | CA400615930 | SCN4A | c.4482C>G (p.Phe1494Leu)
| gnomAD v4 |
17 | g.63941800G>T | CA400615931 | SCN4A | c.4482C>A (p.Phe1494Leu)
| |
17 | g.63941801A= | CA2270161108 | SCN4A | c.4481T= (p.Phe1494=)
| |
17 | g.63941801A>C | CA400615932 | SCN4A | c.4481T>G (p.Phe1494Cys)
| |
17 | g.63941801A>G | CA400615933 | SCN4A | c.4481T>C (p.Phe1494Ser)
| |
17 | g.63941801A>T | CA400615934 | SCN4A | c.4481T>A (p.Phe1494Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941802A>C | CA400615935 | SCN4A | c.4480T>G (p.Phe1494Val)
| |
17 | g.63941802A>G | CA400615936 | SCN4A | c.4480T>C (p.Phe1494Leu)
| |
17 | g.63941802A>T | CA400615937 | SCN4A | c.4480T>A (p.Phe1494Ile)
| gnomAD v4 |
17 | g.63941803C>A | CA400615938 | SCN4A | c.4479G>T (p.Met1493Ile)
| |
17 | g.63941803C= | CA2270161109 | SCN4A | c.4479G= (p.Met1493=)
| |
17 | g.63941803C>G | CA400615939 | SCN4A | c.4479G>C (p.Met1493Ile)
| |
17 | g.63941803C>T | CA341677 | SCN4A | c.4479G>A (p.Met1493Ile)
| dbSNP gnomAD v4 |
17 | g.[63941803C>T;63941814A>G] | CA645373129 | SCN4A | c.[4468T>C;4479G>A] (p.[Phe1490Leu;Met1493Ile])
| |
17 | g.63941803_63941814delinsTATGACCAGGAG | CA2695226829 | SCN4A | c.4468_4479delinsCTCCTGGTCATA (p.Phe1490_Met1493delinsLeuLeuValIle)
| |
17 | g.63941804A>C | CA400615942 | SCN4A | c.4478T>G (p.Met1493Arg)
| |
17 | g.63941804A>G | CA400615941 | SCN4A | c.4478T>C (p.Met1493Thr)
| gnomAD v4 |
17 | g.63941804A>T | CA400615940 | SCN4A | c.4478T>A (p.Met1493Lys)
| |
17 | g.63941805T>A | CA400615943 | SCN4A | c.4477A>T (p.Met1493Leu)
| gnomAD v4 |
17 | g.63941805T>C | CA400615945 | SCN4A | c.4477A>G (p.Met1493Val)
| ClinVar dbSNP |
17 | g.63941805T>G | CA400615944 | SCN4A | c.4477A>C (p.Met1493Leu)
| |
17 | g.63941805T= | CA2270161110 | SCN4A | c.4477A= (p.Met1493=)
| |
17 | g.63941806G>A | CA501348267 | SCN4A | c.4476C>T (p.Val1492=)
| gnomAD v4 |
17 | g.63941806G>C | CA501348268 | SCN4A | c.4476C>G (p.Val1492=)
| |
17 | g.63941806G>T | CA501348270 | SCN4A | c.4476C>A (p.Val1492=)
| |
17 | g.63941807A>C | CA400615946 | SCN4A | c.4475T>G (p.Val1492Gly)
| |
17 | g.63941807A>G | CA400615947 | SCN4A | c.4475T>C (p.Val1492Ala)
| |
17 | g.63941807A>T | CA400615948 | SCN4A | c.4475T>A (p.Val1492Asp)
| |
17 | g.63941808C>A | CA400615949 | SCN4A | c.4474G>T (p.Val1492Phe)
| |
17 | g.63941808C>G | CA400615950 | SCN4A | c.4474G>C (p.Val1492Leu)
| |
17 | g.63941808C>T | CA400615951 | SCN4A | c.4474G>A (p.Val1492Ile)
| gnomAD v4 |
17 | g.63941809C>A | CA501348272 | SCN4A | c.4473G>T (p.Leu1491=)
| |
17 | g.63941809C= | CA2270161111 | SCN4A | c.4473G= (p.Leu1491=)
| |
17 | g.63941809C>G | CA292957151 | SCN4A | c.4473G>C (p.Leu1491=)
| dbSNP gnomAD v4 |
17 | g.63941809C>T | CA501348273 | SCN4A | c.4473G>A (p.Leu1491=)
| |
17 | g.63941810del | CA2580094696 | SCN4A | c.4472del (p.Leu1491ArgfsTer?)
| ClinVar |
17 | g.63941810A>C | CA400615952 | SCN4A | c.4472T>G (p.Leu1491Arg)
| gnomAD v4 |
17 | g.63941810A>G | CA400615953 | SCN4A | c.4472T>C (p.Leu1491Pro)
| |
17 | g.63941810A>T | CA400615954 | SCN4A | c.4472T>A (p.Leu1491Gln)
| |
17 | g.63941811G>A | CA501348278 | SCN4A | c.4471C>T (p.Leu1491=)
| |
17 | g.63941811G>C | CA400615955 | SCN4A | c.4471C>G (p.Leu1491Val)
| gnomAD v4 |
17 | g.63941811G= | CA2270161112 | SCN4A | c.4471C= (p.Leu1491=)
| |
17 | g.63941811G>T | CA400615956 | SCN4A | c.4471C>A (p.Leu1491Met)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941812G>A | CA501348279 | SCN4A | c.4470C>T (p.Phe1490=)
| |
17 | g.63941812G>C | CA400615957 | SCN4A | c.4470C>G (p.Phe1490Leu)
| |
17 | g.63941812G>T | CA400615958 | SCN4A | c.4470C>A (p.Phe1490Leu)
| |
17 | g.63941813A>C | CA400615959 | SCN4A | c.4469T>G (p.Phe1490Cys)
| |
17 | g.63941813A>G | CA400615960 | SCN4A | c.4469T>C (p.Phe1490Ser)
| |
17 | g.63941813A>T | CA400615961 | SCN4A | c.4469T>A (p.Phe1490Tyr)
| |
17 | g.63941814A= | CA2270161113 | SCN4A | c.4468T= (p.Phe1490=)
| |
17 | g.63941814A>C | CA400615962 | SCN4A | c.4468T>G (p.Phe1490Val)
| |
17 | g.63941814A>G | CA341675 | SCN4A | c.4468T>C (p.Phe1490Leu)
| dbSNP |
17 | g.63941814A>T | CA400615963 | SCN4A | c.4468T>A (p.Phe1490Ile)
| |
17 | g.63941815G>A | CA8708954 | SCN4A | c.4467C>T (p.Leu1489=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941815G>C | CA501348286 | SCN4A | c.4467C>G (p.Leu1489=)
| |
17 | g.63941815G= | CA2270161114 | SCN4A | c.4467C= (p.Leu1489=)
| |
17 | g.63941815G>T | CA501348285 | SCN4A | c.4467C>A (p.Leu1489=)
| |
17 | g.63941822_63941824del | CA2639307323 | SCN4A | c.4465_4467del (p.Leu1489del)
| gnomAD v4 |
17 | g.63941816A>C | CA400615964 | SCN4A | c.4466T>G (p.Leu1489Arg)
| |
17 | g.63941816A>G | CA400615965 | SCN4A | c.4466T>C (p.Leu1489Pro)
| |
17 | g.63941816A>T | CA400615966 | SCN4A | c.4466T>A (p.Leu1489His)
| |
17 | g.63941817G>A | CA400615968 | SCN4A | c.4465C>T (p.Leu1489Phe)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941817G>C | CA400615969 | SCN4A | c.4465C>G (p.Leu1489Val)
| |
17 | g.63941817G= | CA2270161115 | SCN4A | c.4465C= (p.Leu1489=)
| |
17 | g.63941817G>T | CA400615967 | SCN4A | c.4465C>A (p.Leu1489Ile)
| |
17 | g.63941818G>A | CA8708955 | SCN4A | c.4464C>T (p.Leu1488=)
| ClinVar dbSNP ExAC gnomAD v2 |
17 | g.63941818G>C | CA292957157 | SCN4A | c.4464C>G (p.Leu1488=)
| dbSNP gnomAD v4 |
17 | g.63941818G= | CA2270161116 | SCN4A | c.4464C= (p.Leu1488=)
| |
17 | g.63941818G>T | CA501348292 | SCN4A | c.4464C>A (p.Leu1488=)
| |
17 | g.63941819A= | CA2270161117 | SCN4A | c.4463T= (p.Leu1488=)
| |
17 | g.63941819A>C | CA400615970 | SCN4A | c.4463T>G (p.Leu1488Arg)
| |
17 | g.63941819A>G | CA16607427 | SCN4A | c.4463T>C (p.Leu1488Pro)
| ClinVar dbSNP |
17 | g.63941819A>T | CA400615971 | SCN4A | c.4463T>A (p.Leu1488His)
| gnomAD v4 |
17 | g.63941820G>A | CA400615972 | SCN4A | c.4462C>T (p.Leu1488Phe)
| |
17 | g.63941820G>C | CA400615973 | SCN4A | c.4462C>G (p.Leu1488Val)
| |
17 | g.63941820G>T | CA400615974 | SCN4A | c.4462C>A (p.Leu1488Ile)
| |
17 | g.63941821del | CA2810127902 | SCN4A | c.4462del (p.Leu1488SerfsTer?)
| |
17 | g.63941821G>A | CA501348296 | SCN4A | c.4461C>T (p.Leu1487=)
| COSMIC |
17 | g.63941821G>C | CA501348297 | SCN4A | c.4461C>G (p.Leu1487=)
| |
17 | g.63941821G>T | CA501348298 | SCN4A | c.4461C>A (p.Leu1487=)
| |
17 | g.63941822A>C | CA400615975 | SCN4A | c.4460T>G (p.Leu1487Arg)
| |
17 | g.63941822A>G | CA400615976 | SCN4A | c.4460T>C (p.Leu1487Pro)
| |
17 | g.63941822A>T | CA400615977 | SCN4A | c.4460T>A (p.Leu1487His)
| |
17 | g.63941823G>A | CA400615978 | SCN4A | c.4459C>T (p.Leu1487Phe)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941823G>C | CA400615979 | SCN4A | c.4459C>G (p.Leu1487Val)
| |
17 | g.63941823G= | CA2270161118 | SCN4A | c.4459C= (p.Leu1487=)
| |
17 | g.63941823G>T | CA400615980 | SCN4A | c.4459C>A (p.Leu1487Ile)
| |
17 | g.63941824G>A | CA292957162 | SCN4A | c.4458C>T (p.Gly1486=)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941824G>C | CA501348302 | SCN4A | c.4458C>G (p.Gly1486=)
| |
17 | g.63941824G= | CA2270161119 | SCN4A | c.4458C= (p.Gly1486=)
| |
17 | g.63941824G>T | CA501348303 | SCN4A | c.4458C>A (p.Gly1486=)
| |
17 | g.63941825C>A | CA400615981 | SCN4A | c.4457G>T (p.Gly1486Val)
| ClinVar dbSNP |
17 | g.63941825C= | CA2270161120 | SCN4A | c.4457G= (p.Gly1486=)
| |
17 | g.63941825C>G | CA400615982 | SCN4A | c.4457G>C (p.Gly1486Ala)
| |
17 | g.63941825C>T | CA400615983 | SCN4A | c.4457G>A (p.Gly1486Asp)
| dbSNP |
17 | g.63941826C>A | CA400615984 | SCN4A | c.4456G>T (p.Gly1486Cys)
| |
17 | g.63941826C>G | CA400615985 | SCN4A | c.4456G>C (p.Gly1486Arg)
| |
17 | g.63941826C>T | CA400615986 | SCN4A | c.4456G>A (p.Gly1486Ser)
| ClinVar gnomAD v4 |
17 | g.63941827G>A | CA8708956 | SCN4A | c.4455C>T (p.Ile1485=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941827G>C | CA400615987 | SCN4A | c.4455C>G (p.Ile1485Met)
| dbSNP |
17 | g.63941827G= | CA2270161121 | SCN4A | c.4455C= (p.Ile1485=)
| |
17 | g.63941827G>T | CA501348306 | SCN4A | c.4455C>A (p.Ile1485=)
| |
17 | g.63941828A>C | CA400615988 | SCN4A | c.4454T>G (p.Ile1485Ser)
| |
17 | g.63941828A>G | CA400615989 | SCN4A | c.4454T>C (p.Ile1485Thr)
| |
17 | g.63941828A>T | CA400615990 | SCN4A | c.4454T>A (p.Ile1485Asn)
| |
17 | g.63941829T>A | CA400615991 | SCN4A | c.4453A>T (p.Ile1485Phe)
| |
17 | g.63941829T>C | CA400615992 | SCN4A | c.4453A>G (p.Ile1485Val)
| |
17 | g.63941829T>G | CA400615993 | SCN4A | c.4453A>C (p.Ile1485Leu)
| |
17 | g.63941830G>A | CA8708957 | SCN4A | c.4452C>T (p.Asn1484=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63941830G>C | CA400615995 | SCN4A | c.4452C>G (p.Asn1484Lys)
| |
17 | g.63941830G= | CA2270161122 | SCN4A | c.4452C= (p.Asn1484=)
| |
17 | g.63941830G>T | CA400615994 | SCN4A | c.4452C>A (p.Asn1484Lys)
| |
17 | g.63941831T>A | CA400615997 | SCN4A | c.4451A>T (p.Asn1484Ile)
| |
17 | g.63941831T>C | CA400615996 | SCN4A | c.4451A>G (p.Asn1484Ser)
| |
17 | g.63941831T>G | CA400615998 | SCN4A | c.4451A>C (p.Asn1484Thr)
| |
17 | g.63941832T>A | CA400615999 | SCN4A | c.4450A>T (p.Asn1484Tyr)
| |
17 | g.63941832T>C | CA400616001 | SCN4A | c.4450A>G (p.Asn1484Asp)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941832T>G | CA400616000 | SCN4A | c.4450A>C (p.Asn1484His)
| |
17 | g.63941832T= | CA2270161123 | SCN4A | c.4450A= (p.Asn1484=)
| |
17 | g.63941833G>A | CA501348311 | SCN4A | c.4449C>T (p.Phe1483=)
| |
17 | g.63941833G>C | CA400616002 | SCN4A | c.4449C>G (p.Phe1483Leu)
| dbSNP |
17 | g.63941833G>T | CA400616003 | SCN4A | c.4449C>A (p.Phe1483Leu)
| |
17 | g.63941834A>C | CA400616004 | SCN4A | c.4448T>G (p.Phe1483Cys)
| |
17 | g.63941834A>G | CA400616005 | SCN4A | c.4448T>C (p.Phe1483Ser)
| |
17 | g.63941834A>T | CA400616006 | SCN4A | c.4448T>A (p.Phe1483Tyr)
| |
17 | g.63941835A>C | CA400616007 | SCN4A | c.4447T>G (p.Phe1483Val)
| |
17 | g.63941835A>G | CA400616008 | SCN4A | c.4447T>C (p.Phe1483Leu)
| |
17 | g.63941835A>T | CA400616009 | SCN4A | c.4447T>A (p.Phe1483Ile)
| |
17 | g.63941836G>A | CA501348320 | SCN4A | c.4446C>T (p.Leu1482=)
| dbSNP |
17 | g.63941836G>C | CA501348318 | SCN4A | c.4446C>G (p.Leu1482=)
| |
17 | g.63941836G= | CA2270161124 | SCN4A | c.4446C= (p.Leu1482=)
| |
17 | g.63941836G>T | CA501348317 | SCN4A | c.4446C>A (p.Leu1482=)
| |
17 | g.63941837A= | CA2270161125 | SCN4A | c.4445T= (p.Leu1482=)
| |
17 | g.63941837A>C | CA400616010 | SCN4A | c.4445T>G (p.Leu1482Arg)
| |
17 | g.63941837A>G | CA400616011 | SCN4A | c.4445T>C (p.Leu1482Pro)
| |
17 | g.63941837A>T | CA400616012 | SCN4A | c.4445T>A (p.Leu1482His)
| |
17 | g.63941837_63941838insTGACTTT | CA8708959 | SCN4A | c.4444_4445insAAAGTCA (p.Leu1482GlnfsTer?)
| dbSNP ExAC gnomAD v2 |
17 | g.63941837_63941838insTGACTTTGAGAT | CA8708958 | SCN4A | c.4444_4445insATCTCAAAGTCA (p.Leu1482delinsHisLeuLysValIle)
| dbSNP ExAC gnomAD v2 |
17 | g.63941838G>A | CA400616013 | SCN4A | c.4444C>T (p.Leu1482Phe)
| dbSNP gnomAD v2 |
17 | g.63941838G>C | CA400616014 | SCN4A | c.4444C>G (p.Leu1482Val)
| dbSNP |
17 | g.63941838G= | CA2270161126 | SCN4A | c.4444C= (p.Leu1482=)
| |
17 | g.63941838G>T | CA8708960 | SCN4A | c.4444C>A (p.Leu1482Ile)
| dbSNP ExAC gnomAD v2 |
17 | g.63941839G>A | CA292957207 | SCN4A | c.4443C>T (p.Ala1481=)
| dbSNP |
17 | g.63941839G>C | CA501348328 | SCN4A | c.4443C>G (p.Ala1481=)
| |
17 | g.63941839G= | CA2270161127 | SCN4A | c.4443C= (p.Ala1481=)
| |
17 | g.63941839G>T | CA501348329 | SCN4A | c.4443C>A (p.Ala1481=)
| |
17 | g.63941840G>A | CA8708961 | SCN4A | c.4442C>T (p.Ala1481Val)
| dbSNP ExAC gnomAD v2 |
17 | g.63941840G>C | CA400616015 | SCN4A | c.4442C>G (p.Ala1481Gly)
| |
17 | g.63941840G= | CA2270161128 | SCN4A | c.4442C= (p.Ala1481=)
| |
17 | g.63941840G>T | CA400616016 | SCN4A | c.4442C>A (p.Ala1481Asp)
| ClinVar dbSNP |
17 | g.63941841C>A | CA400616017 | SCN4A | c.4441G>T (p.Ala1481Ser)
| |
17 | g.63941841C= | CA2270161129 | SCN4A | c.4441G= (p.Ala1481=)
| |
17 | g.63941841C>G | CA400616018 | SCN4A | c.4441G>C (p.Ala1481Pro)
| |
17 | g.63941841C>T | CA400616019 | SCN4A | c.4441G>A (p.Ala1481Thr)
| |
17 | g.63941841_63941842insTTTG | CA8708962 | SCN4A | c.4440_4441insCAAA (p.Ala1481GlnfsTer?)
| dbSNP ExAC gnomAD v2 |
17 | g.63941842A= | CA2270161130 | SCN4A | c.4440T= (p.Pro1480=)
| |
17 | g.63941842A>C | CA501348335 | SCN4A | c.4440T>G (p.Pro1480=)
| dbSNP |
17 | g.63941842A>G | CA501348336 | SCN4A | c.4440T>C (p.Pro1480=)
| dbSNP |
17 | g.63941842A>T | CA501348338 | SCN4A | c.4440T>A (p.Pro1480=)
| |