Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.63957414A>C | CA501225526 | SCN4A | c.2124T>G (p.Ala708=) | |
17 | g.63957414A>G | CA501225528 | SCN4A | c.2124T>C (p.Ala708=) | |
17 | g.63957414A>T | CA501225527 | SCN4A | c.2124T>A (p.Ala708=) | |
17 | g.63957415G>A | CA400631065 | SCN4A | c.2123C>T (p.Ala708Val) | gnomAD v4 |
17 | g.63957415G>C | CA400631069 | SCN4A | c.2123C>G (p.Ala708Gly) | |
17 | g.63957415G>T | CA400631067 | SCN4A | c.2123C>A (p.Ala708Asp) | |
17 | g.63957416C>A | CA400631072 | SCN4A | c.2122G>T (p.Ala708Ser) | |
17 | g.63957416C= | CA2270168660 | SCN4A | c.2122G= (p.Ala708=) | |
17 | g.63957416C>G | CA400631076 | SCN4A | c.2122G>C (p.Ala708Pro) | ClinVar dbSNP |
17 | g.63957416C>T | CA400631074 | SCN4A | c.2122G>A (p.Ala708Thr) | |
17 | g.63957417C>A | CA501225529 | SCN4A | c.2121G>T (p.Leu707=) | |
17 | g.63957417C>G | CA501225530 | SCN4A | c.2121G>C (p.Leu707=) | |
17 | g.63957417C>T | CA501225531 | SCN4A | c.2121G>A (p.Leu707=) | gnomAD v4 |
17 | g.63957418A>C | CA400631078 | SCN4A | c.2120T>G (p.Leu707Arg) | |
17 | g.63957418A>G | CA400631079 | SCN4A | c.2120T>C (p.Leu707Pro) | COSMIC |
17 | g.63957418A>T | CA400631081 | SCN4A | c.2120T>A (p.Leu707Gln) | |
17 | g.63957419G>A | CA501225532 | SCN4A | c.2119C>T (p.Leu707=) | |
17 | g.63957419G>C | CA400631083 | SCN4A | c.2119C>G (p.Leu707Val) | |
17 | g.63957419G>T | CA400631084 | SCN4A | c.2119C>A (p.Leu707Met) | |
17 | g.63957420C>A | CA501225533 | SCN4A | c.2118G>T (p.Val706=) | |
17 | g.63957420C>G | CA501225534 | SCN4A | c.2118G>C (p.Val706=) | |
17 | g.63957420C>T | CA501225535 | SCN4A | c.2118G>A (p.Val706=) | |
17 | g.63957421A>C | CA400631086 | SCN4A | c.2117T>G (p.Val706Gly) | |
17 | g.63957421A>G | CA400631088 | SCN4A | c.2117T>C (p.Val706Ala) | |
17 | g.63957421A>T | CA400631090 | SCN4A | c.2117T>A (p.Val706Glu) | |
17 | g.63957422C>A | CA400631093 | SCN4A | c.2116G>T (p.Val706Leu) | |
17 | g.63957422C>G | CA400631094 | SCN4A | c.2116G>C (p.Val706Leu) | |
17 | g.63957422C>T | CA400631096 | SCN4A | c.2116G>A (p.Val706Met) | |
17 | g.63957423C>A | CA501225537 | SCN4A | c.2115G>T (p.Leu705=) | |
17 | g.63957423C>G | CA501225538 | SCN4A | c.2115G>C (p.Leu705=) | |
17 | g.63957423C>T | CA501225536 | SCN4A | c.2115G>A (p.Leu705=) | |
17 | g.63957424A>C | CA400631103 | SCN4A | c.2114T>G (p.Leu705Arg) | |
17 | g.63957424A>G | CA400631101 | SCN4A | c.2114T>C (p.Leu705Pro) | ClinVar |
17 | g.63957424A>T | CA400631099 | SCN4A | c.2114T>A (p.Leu705Gln) | |
17 | g.63957425G>A | CA501225539 | SCN4A | c.2113C>T (p.Leu705=) | |
17 | g.63957425G>C | CA292966390 | SCN4A | c.2113C>G (p.Leu705Val) | dbSNP |
17 | g.63957425G= | CA2270168661 | SCN4A | c.2113C= (p.Leu705=) | |
17 | g.63957425G>T | CA400631105 | SCN4A | c.2113C>A (p.Leu705Met) | |
17 | g.63957426C>A | CA501225540 | SCN4A | c.2112G>T (p.Thr704=) | |
17 | g.63957426C= | CA2270168662 | SCN4A | c.2112G= (p.Thr704=) | |
17 | g.63957426C>G | CA292966394 | SCN4A | c.2112G>C (p.Thr704=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.63957426C>T | CA8709657 | SCN4A | c.2112G>A (p.Thr704=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.63957427G>A | CA117833 | SCN4A | c.2111C>T (p.Thr704Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.63957427G>C | CA400631111 | SCN4A | c.2111C>G (p.Thr704Arg) | |
17 | g.63957427G= | CA2270168663 | SCN4A | c.2111C= (p.Thr704=) | |
17 | g.63957427G>T | CA400631113 | SCN4A | c.2111C>A (p.Thr704Lys) | |
17 | g.63957428T>A | CA400631115 | SCN4A | c.2110A>T (p.Thr704Ser) | ClinVar dbSNP |
17 | g.63957428T>C | CA400631117 | SCN4A | c.2110A>G (p.Thr704Ala) | |
17 | g.63957428T>G | CA400631119 | SCN4A | c.2110A>C (p.Thr704Pro) | |
17 | g.63957428T= | CA2270168664 | SCN4A | c.2110A= (p.Thr704=) |