Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63945618T>A | CA501219121 | SCN4A | c.3462A>T (p.Leu1154=) | |
17 | g.63945618T>C | CA501219122 | SCN4A | c.3462A>G (p.Leu1154=) | |
17 | g.63945618T>G | CA501219123 | SCN4A | c.3462A>C (p.Leu1154=) | |
17 | g.63945619A>C | CA400618772 | SCN4A | c.3461T>G (p.Leu1154Arg) | |
17 | g.63945619A>G | CA400618775 | SCN4A | c.3461T>C (p.Leu1154Pro) | |
17 | g.63945619A>T | CA400618778 | SCN4A | c.3461T>A (p.Leu1154Gln) | |
17 | g.63945620G>A | CA501219124 | SCN4A | c.3460C>T (p.Leu1154=) | |
17 | g.63945620G>C | CA400618783 | SCN4A | c.3460C>G (p.Leu1154Val) | |
17 | g.63945620G>T | CA400618786 | SCN4A | c.3460C>A (p.Leu1154Ile) | |
17 | g.63945621G>A | CA501219126 | SCN4A | c.3459C>T (p.Leu1153=) | |
17 | g.63945621G>C | CA8709252 | SCN4A | c.3459C>G (p.Leu1153=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.63945621G= | CA2270162993 | SCN4A | c.3459C= (p.Leu1153=) | |
17 | g.63945621G>T | CA501219125 | SCN4A | c.3459C>A (p.Leu1153=) | |
17 | g.63945622A>C | CA400618795 | SCN4A | c.3458T>G (p.Leu1153Arg) | |
17 | g.63945622A>G | CA400618792 | SCN4A | c.3458T>C (p.Leu1153Pro) | |
17 | g.63945622A>T | CA400618798 | SCN4A | c.3458T>A (p.Leu1153His) | |
17 | g.63945623G>A | CA400618803 | SCN4A | c.3457C>T (p.Leu1153Phe) | |
17 | g.63945623G>C | CA400618805 | SCN4A | c.3457C>G (p.Leu1153Val) | |
17 | g.63945623G= | CA2270162994 | SCN4A | c.3457C= (p.Leu1153=) | |
17 | g.63945623G>T | CA400618808 | SCN4A | c.3457C>A (p.Leu1153Ile) | dbSNP |
17 | g.63945624G>A | CA501219127 | SCN4A | c.3456C>T (p.Ala1152=) | gnomAD v4 |
17 | g.63945624G>C | CA501219128 | SCN4A | c.3456C>G (p.Ala1152=) | |
17 | g.63945624G= | CA2270162995 | SCN4A | c.3456C= (p.Ala1152=) | |
17 | g.63945624G>T | CA8709253 | SCN4A | c.3456C>A (p.Ala1152=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.63945625G>A | CA400618811 | SCN4A | c.3455C>T (p.Ala1152Val) | |
17 | g.63945625G>C | CA400618812 | SCN4A | c.3455C>G (p.Ala1152Gly) | |
17 | g.63945625G>T | CA400618813 | SCN4A | c.3455C>A (p.Ala1152Asp) | ClinVar |
17 | g.63945626C>A | CA400618816 | SCN4A | c.3454G>T (p.Ala1152Ser) | |
17 | g.63945626C>G | CA400618819 | SCN4A | c.3454G>C (p.Ala1152Pro) | |
17 | g.63945626C>T | CA400618822 | SCN4A | c.3454G>A (p.Ala1152Thr) | ClinVar gnomAD v4 |
17 | g.63945627G>A | CA8709254 | SCN4A | c.3453C>T (p.Asn1151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63945627G>C | CA400618829 | SCN4A | c.3453C>G (p.Asn1151Lys) | |
17 | g.63945627G= | CA2270162996 | SCN4A | c.3453C= (p.Asn1151=) | |
17 | g.63945627G>T | CA400618832 | SCN4A | c.3453C>A (p.Asn1151Lys) | |
17 | g.63945628T>A | CA400618838 | SCN4A | c.3452A>T (p.Asn1151Ile) | gnomAD v4 |
17 | g.63945628T>C | CA400618847 | SCN4A | c.3452A>G (p.Asn1151Ser) | gnomAD v4 |
17 | g.63945628T>G | CA400618841 | SCN4A | c.3452A>C (p.Asn1151Thr) | |
17 | g.63945629T>A | CA400618851 | SCN4A | c.3451A>T (p.Asn1151Tyr) | |
17 | g.63945629T>C | CA400618854 | SCN4A | c.3451A>G (p.Asn1151Asp) | |
17 | g.63945629T>G | CA400618856 | SCN4A | c.3451A>C (p.Asn1151His) | |
17 | g.63945630C>A | CA501219130 | SCN4A | c.3450G>T (p.Val1150=) | |
17 | g.63945630C>G | CA501219131 | SCN4A | c.3450G>C (p.Val1150=) | |
17 | g.63945630C>T | CA501219132 | SCN4A | c.3450G>A (p.Val1150=) | COSMIC |
17 | g.63945631A= | CA2270162997 | SCN4A | c.3449T= (p.Val1150=) | |
17 | g.63945631A>C | CA400618861 | SCN4A | c.3449T>G (p.Val1150Gly) | dbSNP |
17 | g.63945631A>G | CA400618863 | SCN4A | c.3449T>C (p.Val1150Ala) | gnomAD v4 |
17 | g.63945631A>T | CA400618866 | SCN4A | c.3449T>A (p.Val1150Glu) | |
17 | g.63945632C>A | CA400618869 | SCN4A | c.3448G>T (p.Val1150Leu) | |
17 | g.63945632C= | CA2270162998 | SCN4A | c.3448G= (p.Val1150=) | |
17 | g.63945632C>G | CA400618873 | SCN4A | c.3448G>C (p.Val1150Leu) |