17 | g.63941700_63941708del | CA2639307163 | SCN4A | c.4576_4584del (p.Ile1526_Cys1528del)
| gnomAD v4 |
17 | g.63941704G>A | CA501348380 | SCN4A | c.4578C>T (p.Ile1526=)
| |
17 | g.63941704G>C | CA400615709 | SCN4A | c.4578C>G (p.Ile1526Met)
| |
17 | g.63941704G>T | CA501348381 | SCN4A | c.4578C>A (p.Ile1526=)
| |
17 | g.63941705A>C | CA400615710 | SCN4A | c.4577T>G (p.Ile1526Ser)
| |
17 | g.63941705A>G | CA400615712 | SCN4A | c.4577T>C (p.Ile1526Thr)
| |
17 | g.63941705A>T | CA400615711 | SCN4A | c.4577T>A (p.Ile1526Asn)
| |
17 | g.63941706T>A | CA400615713 | SCN4A | c.4576A>T (p.Ile1526Phe)
| gnomAD v4 |
17 | g.63941706T>C | CA400615714 | SCN4A | c.4576A>G (p.Ile1526Val)
| dbSNP |
17 | g.63941706T>G | CA400615715 | SCN4A | c.4576A>C (p.Ile1526Leu)
| |
17 | g.63941706T= | CA2270161065 | SCN4A | c.4576A= (p.Ile1526=)
| |
17 | g.63941707G>A | CA501348382 | SCN4A | c.4575C>T (p.Ser1525=)
| |
17 | g.63941707G>C | CA400615716 | SCN4A | c.4575C>G (p.Ser1525Arg)
| |
17 | g.63941707G>T | CA400615717 | SCN4A | c.4575C>A (p.Ser1525Arg)
| COSMIC |
17 | g.63941708C>A | CA400615718 | SCN4A | c.4574G>T (p.Ser1525Ile)
| |
17 | g.63941708C>G | CA400615719 | SCN4A | c.4574G>C (p.Ser1525Thr)
| |
17 | g.63941708C>T | CA400615720 | SCN4A | c.4574G>A (p.Ser1525Asn)
| |
17 | g.63941709T>A | CA400615721 | SCN4A | c.4573A>T (p.Ser1525Cys)
| ClinVar |
17 | g.63941709T>C | CA400615722 | SCN4A | c.4573A>G (p.Ser1525Gly)
| |
17 | g.63941709T>G | CA400615723 | SCN4A | c.4573A>C (p.Ser1525Arg)
| |
17 | g.63941710G>A | CA501348386 | SCN4A | c.4572C>T (p.Asn1524=)
| |
17 | g.63941710G>C | CA400615725 | SCN4A | c.4572C>G (p.Asn1524Lys)
| gnomAD v4 |
17 | g.63941710G>T | CA400615724 | SCN4A | c.4572C>A (p.Asn1524Lys)
| |
17 | g.63941711T>A | CA400615726 | SCN4A | c.4571A>T (p.Asn1524Ile)
| |
17 | g.63941711T>C | CA8708942 | SCN4A | c.4571A>G (p.Asn1524Ser)
| dbSNP ExAC |
17 | g.63941711T>G | CA400615727 | SCN4A | c.4571A>C (p.Asn1524Thr)
| |
17 | g.63941711T= | CA2270161066 | SCN4A | c.4571A= (p.Asn1524=)
| |
17 | g.63941712T>A | CA400615728 | SCN4A | c.4570A>T (p.Asn1524Tyr)
| |
17 | g.63941712T>C | CA400615729 | SCN4A | c.4570A>G (p.Asn1524Asp)
| |
17 | g.63941712T>G | CA400615730 | SCN4A | c.4570A>C (p.Asn1524His)
| |
17 | g.63941713G>A | CA501348390 | SCN4A | c.4569C>T (p.Gly1523=)
| |
17 | g.63941713G>C | CA501348391 | SCN4A | c.4569C>G (p.Gly1523=)
| |
17 | g.63941713G= | CA2270161067 | SCN4A | c.4569C= (p.Gly1523=)
| |
17 | g.63941713G>T | CA501348393 | SCN4A | c.4569C>A (p.Gly1523=)
| dbSNP |
17 | g.63941714C>A | CA400615731 | SCN4A | c.4568G>T (p.Gly1523Val)
| |
17 | g.63941714C= | CA2270161068 | SCN4A | c.4568G= (p.Gly1523=)
| |
17 | g.63941714C>G | CA400615732 | SCN4A | c.4568G>C (p.Gly1523Ala)
| dbSNP |
17 | g.63941714C>T | CA400615733 | SCN4A | c.4568G>A (p.Gly1523Asp)
| ClinVar dbSNP gnomAD v4 |
17 | g.63941715C>A | CA400615734 | SCN4A | c.4567G>T (p.Gly1523Cys)
| |
17 | g.63941715C= | CA2270161069 | SCN4A | c.4567G= (p.Gly1523=)
| |
17 | g.63941715C>G | CA400615735 | SCN4A | c.4567G>C (p.Gly1523Arg)
| |
17 | g.63941715C>T | CA8708943 | SCN4A | c.4567G>A (p.Gly1523Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941716G>A | CA8708944 | SCN4A | c.4566C>T (p.Phe1522=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941716G>C | CA400615737 | SCN4A | c.4566C>G (p.Phe1522Leu)
| |
17 | g.63941716G= | CA2270161070 | SCN4A | c.4566C= (p.Phe1522=)
| |
17 | g.63941716G>T | CA400615736 | SCN4A | c.4566C>A (p.Phe1522Leu)
| |
17 | g.63941717A>C | CA400615738 | SCN4A | c.4565T>G (p.Phe1522Cys)
| |
17 | g.63941717A>G | CA400615739 | SCN4A | c.4565T>C (p.Phe1522Ser)
| |
17 | g.63941717A>T | CA400615740 | SCN4A | c.4565T>A (p.Phe1522Tyr)
| |
17 | g.63941718A= | CA2270161071 | SCN4A | c.4564T= (p.Phe1522=)
| |
17 | g.63941718A>C | CA400615741 | SCN4A | c.4564T>G (p.Phe1522Val)
| ClinVar dbSNP |
17 | g.63941718A>G | CA400615742 | SCN4A | c.4564T>C (p.Phe1522Leu)
| |
17 | g.63941718A>T | CA400615743 | SCN4A | c.4564T>A (p.Phe1522Ile)
| |
17 | g.63941719G>A | CA501348398 | SCN4A | c.4563C>T (p.Thr1521=)
| gnomAD v3 gnomAD v4 |
17 | g.63941719G>C | CA501348399 | SCN4A | c.4563C>G (p.Thr1521=)
| ClinVar gnomAD v4 |
17 | g.63941719G>T | CA501348397 | SCN4A | c.4563C>A (p.Thr1521=)
| |
17 | g.63941720G>A | CA400615745 | SCN4A | c.4562C>T (p.Thr1521Ile)
| gnomAD v4 |
17 | g.63941720G>C | CA400615744 | SCN4A | c.4562C>G (p.Thr1521Ser)
| gnomAD v4 |
17 | g.63941720G= | CA2270161072 | SCN4A | c.4562C= (p.Thr1521=)
| |
17 | g.63941720G>T | CA8708945 | SCN4A | c.4562C>A (p.Thr1521Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941721T>A | CA400615746 | SCN4A | c.4561A>T (p.Thr1521Ser)
| |
17 | g.63941721T>C | CA400615747 | SCN4A | c.4561A>G (p.Thr1521Ala)
| |
17 | g.63941721T>G | CA400615748 | SCN4A | c.4561A>C (p.Thr1521Pro)
| |
17 | g.63941722C>A | CA400615749 | SCN4A | c.4560G>T (p.Glu1520Asp)
| |
17 | g.63941722C>G | CA400615750 | SCN4A | c.4560G>C (p.Glu1520Asp)
| |
17 | g.63941722C>T | CA501348401 | SCN4A | c.4560G>A (p.Glu1520=)
| |
17 | g.63941723T>A | CA400615751 | SCN4A | c.4559A>T (p.Glu1520Val)
| |
17 | g.63941723T>C | CA400615753 | SCN4A | c.4559A>G (p.Glu1520Gly)
| |
17 | g.63941723T>G | CA400615752 | SCN4A | c.4559A>C (p.Glu1520Ala)
| |
17 | g.63941724C>A | CA400615754 | SCN4A | c.4558G>T (p.Glu1520Ter)
| dbSNP |
17 | g.63941724C= | CA2270161073 | SCN4A | c.4558G= (p.Glu1520=)
| |
17 | g.63941724C>G | CA400615755 | SCN4A | c.4558G>C (p.Glu1520Gln)
| |
17 | g.63941724C>T | CA292957070 | SCN4A | c.4558G>A (p.Glu1520Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941725G>A | CA292957078 | SCN4A | c.4557C>T (p.Phe1519=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.63941725G>C | CA400615756 | SCN4A | c.4557C>G (p.Phe1519Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941725G= | CA2270161074 | SCN4A | c.4557C= (p.Phe1519=)
| |
17 | g.63941725G>T | CA400615757 | SCN4A | c.4557C>A (p.Phe1519Leu)
| ClinVar dbSNP |
17 | g.63941726A>C | CA400615758 | SCN4A | c.4556T>G (p.Phe1519Cys)
| |
17 | g.63941726A>G | CA400615759 | SCN4A | c.4556T>C (p.Phe1519Ser)
| gnomAD v4 |
17 | g.63941726A>T | CA400615760 | SCN4A | c.4556T>A (p.Phe1519Tyr)
| |
17 | g.63941727A>C | CA400615761 | SCN4A | c.4555T>G (p.Phe1519Val)
| |
17 | g.63941727A>G | CA400615762 | SCN4A | c.4555T>C (p.Phe1519Leu)
| |
17 | g.63941727A>T | CA400615763 | SCN4A | c.4555T>A (p.Phe1519Ile)
| ClinVar |
17 | g.63941728G>A | CA501348191 | SCN4A | c.4554C>T (p.Asn1518=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941728G>C | CA400615764 | SCN4A | c.4554C>G (p.Asn1518Lys)
| |
17 | g.63941728G= | CA2270161075 | SCN4A | c.4554C= (p.Asn1518=)
| |
17 | g.63941728G>T | CA400615765 | SCN4A | c.4554C>A (p.Asn1518Lys)
| |
17 | g.63941729T>A | CA400615767 | SCN4A | c.4553A>T (p.Asn1518Ile)
| |
17 | g.63941729T>C | CA400615768 | SCN4A | c.4553A>G (p.Asn1518Ser)
| gnomAD v4 |
17 | g.63941729T>G | CA400615766 | SCN4A | c.4553A>C (p.Asn1518Thr)
| |
17 | g.63941730T>A | CA400615769 | SCN4A | c.4552A>T (p.Asn1518Tyr)
| |
17 | g.63941730T>C | CA400615771 | SCN4A | c.4552A>G (p.Asn1518Asp)
| |
17 | g.63941730T>G | CA400615770 | SCN4A | c.4552A>C (p.Asn1518His)
| |
17 | g.63941731G>A | CA501348195 | SCN4A | c.4551C>T (p.Phe1517=)
| |
17 | g.63941731G>C | CA400615772 | SCN4A | c.4551C>G (p.Phe1517Leu)
| |
17 | g.63941731G= | CA2270161076 | SCN4A | c.4551C= (p.Phe1517=)
| |
17 | g.63941731G>T | CA400615773 | SCN4A | c.4551C>A (p.Phe1517Leu)
| |
17 | g.63941732A= | CA2270161077 | SCN4A | c.4550T= (p.Phe1517=)
| |
17 | g.63941732A>C | CA400615774 | SCN4A | c.4550T>G (p.Phe1517Cys)
| |
17 | g.63941732A>G | CA400615775 | SCN4A | c.4550T>C (p.Phe1517Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941732A>T | CA400615776 | SCN4A | c.4550T>A (p.Phe1517Tyr)
| |
17 | g.63941733dup | CA627150331 | SCN4A | c.4550dup (p.Asn1518GlnfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.63941733A= | CA2270161078 | SCN4A | c.4549T= (p.Phe1517=)
| |
17 | g.63941733A>C | CA400615777 | SCN4A | c.4549T>G (p.Phe1517Val)
| |
17 | g.63941733A>G | CA400615778 | SCN4A | c.4549T>C (p.Phe1517Leu)
| COSMIC |
17 | g.63941733A>T | CA400615779 | SCN4A | c.4549T>A (p.Phe1517Ile)
| dbSNP |
17 | g.63941734C>A | CA400615780 | SCN4A | c.4548G>T (p.Met1516Ile)
| |
17 | g.63941734C>G | CA400615781 | SCN4A | c.4548G>C (p.Met1516Ile)
| gnomAD v3 gnomAD v4 |
17 | g.63941734C>T | CA400615782 | SCN4A | c.4548G>A (p.Met1516Ile)
| gnomAD v4 |
17 | g.63941735A= | CA2270161079 | SCN4A | c.4547T= (p.Met1516=)
| |
17 | g.63941735A>C | CA400615783 | SCN4A | c.4547T>G (p.Met1516Arg)
| |
17 | g.63941735A>G | CA8708946 | SCN4A | c.4547T>C (p.Met1516Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941735A>T | CA400615784 | SCN4A | c.4547T>A (p.Met1516Lys)
| |
17 | g.63941736T>A | CA400615785 | SCN4A | c.4546A>T (p.Met1516Leu)
| |
17 | g.63941736T>C | CA400615787 | SCN4A | c.4546A>G (p.Met1516Val)
| gnomAD v4 |
17 | g.63941736T>G | CA400615786 | SCN4A | c.4546A>C (p.Met1516Leu)
| |
17 | g.63941737A= | CA2270161080 | SCN4A | c.4545T= (p.Asp1515=)
| |
17 | g.63941737A>C | CA400615788 | SCN4A | c.4545T>G (p.Asp1515Glu)
| |
17 | g.63941737A>G | CA292957085 | SCN4A | c.4545T>C (p.Asp1515=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.63941737A>T | CA400615789 | SCN4A | c.4545T>A (p.Asp1515Glu)
| |
17 | g.63941738T>A | CA400615790 | SCN4A | c.4544A>T (p.Asp1515Val)
| gnomAD v4 |
17 | g.63941738T>C | CA400615791 | SCN4A | c.4544A>G (p.Asp1515Gly)
| ClinVar |
17 | g.63941738T>G | CA400615792 | SCN4A | c.4544A>C (p.Asp1515Ala)
| |
17 | g.63941739C>A | CA400615793 | SCN4A | c.4543G>T (p.Asp1515Tyr)
| |
17 | g.63941739C= | CA2270161081 | SCN4A | c.4543G= (p.Asp1515=)
| |
17 | g.63941739C>G | CA400615794 | SCN4A | c.4543G>C (p.Asp1515His)
| |
17 | g.63941739C>T | CA292957086 | SCN4A | c.4543G>A (p.Asp1515Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63941740A>C | CA400615795 | SCN4A | c.4542T>G (p.Asp1514Glu)
| gnomAD v4 |
17 | g.63941740A>G | CA501348200 | SCN4A | c.4542T>C (p.Asp1514=)
| gnomAD v4 |
17 | g.63941740A>T | CA400615796 | SCN4A | c.4542T>A (p.Asp1514Glu)
| |
17 | g.63941741T>A | CA400615798 | SCN4A | c.4541A>T (p.Asp1514Val)
| |
17 | g.63941741T>C | CA400615799 | SCN4A | c.4541A>G (p.Asp1514Gly)
| |
17 | g.63941741T>G | CA400615797 | SCN4A | c.4541A>C (p.Asp1514Ala)
| ClinVar |
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)
| |