Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51765781T>A | CA480061331 | SCN8A | c.2655T>A (p.Ile885=) c.502T>A c.659T>A n.2783T>A c.2688T>A (p.Ile896=) | |
12 | g.51765781T>C | CA480061332 | SCN8A | c.2655T>C (p.Ile885=) c.502T>C c.659T>C n.2783T>C c.2688T>C (p.Ile896=) | |
12 | g.51765781T>G | CA384887517 | SCN8A | c.2655T>G (p.Ile885Met) c.502T>G c.659T>G n.2783T>G c.2688T>G (p.Ile896Met) | |
12 | g.51765782G>A | CA384887521 | SCN8A | c.2656G>A (p.Val886Ile) c.503G>A c.660G>A n.2784G>A c.2689G>A (p.Val897Ile) | |
12 | g.51765782G>C | CA384887525 | SCN8A | c.2656G>C (p.Val886Leu) c.503G>C c.660G>C n.2784G>C c.2689G>C (p.Val897Leu) | |
12 | g.51765782G>T | CA384887527 | SCN8A | c.2656G>T (p.Val886Phe) c.503G>T c.660G>T n.2784G>T c.2689G>T (p.Val897Phe) | |
12 | g.51765783T>A | CA384887528 | SCN8A | c.2657T>A (p.Val886Asp) c.504T>A c.661T>A n.2785T>A c.2690T>A (p.Val897Asp) | |
12 | g.51765783T>C | CA384887529 | SCN8A | c.2657T>C (p.Val886Ala) c.504T>C c.661T>C n.2785T>C c.2690T>C (p.Val897Ala) | |
12 | g.51765783T>G | CA384887532 | SCN8A | c.2657T>G (p.Val886Gly) c.504T>G c.661T>G n.2785T>G c.2690T>G (p.Val897Gly) | |
12 | g.51765784C>A | CA480061337 | SCN8A | c.2658C>A (p.Val886=) c.505C>A c.662C>A n.2786C>A c.2691C>A (p.Val897=) | |
12 | g.51765784C= | CA2036184105 | SCN8A | c.2658C= (p.Val886=) c.505C= c.662C= n.2786C= c.2691C= (p.Val897=) | |
12 | g.51765784C>G | CA480061336 | SCN8A | c.2658C>G (p.Val886=) c.505C>G c.662C>G n.2786C>G c.2691C>G (p.Val897=) | |
12 | g.51765784C>T | CA6571502 | SCN8A | c.2658C>T (p.Val886=) c.505C>T c.662C>T n.2786C>T c.2691C>T (p.Val897=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51765785T>A | CA384887538 | SCN8A | c.2659T>A (p.Phe887Ile) c.506T>A c.663T>A n.2787T>A c.2692T>A (p.Phe898Ile) | |
12 | g.51765785T>C | CA384887541 | SCN8A | c.2659T>C (p.Phe887Leu) c.506T>C c.663T>C n.2787T>C c.2692T>C (p.Phe898Leu) | |
12 | g.51765785T>G | CA384887543 | SCN8A | c.2659T>G (p.Phe887Val) c.506T>G c.663T>G n.2787T>G c.2692T>G (p.Phe898Val) | |
12 | g.51765786T>A | CA384887544 | SCN8A | c.2660T>A (p.Phe887Tyr) c.507T>A c.664T>A n.2788T>A c.2693T>A (p.Phe898Tyr) | |
12 | g.51765786T>C | CA384887545 | SCN8A | c.2660T>C (p.Phe887Ser) c.507T>C c.664T>C n.2788T>C c.2693T>C (p.Phe898Ser) | |
12 | g.51765786T>G | CA384887547 | SCN8A | c.2660T>G (p.Phe887Cys) c.507T>G c.664T>G n.2788T>G c.2693T>G (p.Phe898Cys) | |
12 | g.51765787C>A | CA384887548 | SCN8A | c.2661C>A (p.Phe887Leu) c.508C>A c.665C>A n.2789C>A c.2694C>A (p.Phe898Leu) | |
12 | g.51765787C>G | CA384887550 | SCN8A | c.2661C>G (p.Phe887Leu) c.508C>G c.665C>G n.2789C>G c.2694C>G (p.Phe898Leu) | |
12 | g.51765787C>T | CA480061338 | SCN8A | c.2661C>T (p.Phe887=) c.508C>T c.665C>T n.2789C>T c.2694C>T (p.Phe898=) | gnomAD v4 |
12 | g.51765788A= | CA2036184116 | SCN8A | c.2662A= (p.Ile888=) c.509A= c.666A= n.2790A= c.2695A= (p.Ile899=) | |
12 | g.51765788A>C | CA384887554 | SCN8A | c.2662A>C (p.Ile888Leu) c.509A>C c.666A>C n.2790A>C c.2695A>C (p.Ile899Leu) | |
12 | g.51765788A>G | CA384887557 | SCN8A | c.2662A>G (p.Ile888Val) c.509A>G c.666A>G n.2790A>G c.2695A>G (p.Ile899Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51765788A>T | CA384887559 | SCN8A | c.2662A>T (p.Ile888Phe) c.509A>T c.666A>T n.2790A>T c.2695A>T (p.Ile899Phe) | |
12 | g.51765789T>A | CA384887563 | SCN8A | c.2663T>A (p.Ile888Asn) c.510T>A c.667T>A n.2791T>A c.2696T>A (p.Ile899Asn) | |
12 | g.51765789T>C | CA384887572 | SCN8A | c.2663T>C (p.Ile888Thr) c.510T>C c.667T>C n.2791T>C c.2696T>C (p.Ile899Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51765789T>G | CA384887573 | SCN8A | c.2663T>G (p.Ile888Ser) c.510T>G c.667T>G n.2791T>G c.2696T>G (p.Ile899Ser) | |
12 | g.51765790_51765801del | CA2695216909 | SCN8A | c.2664_2675del (p.Ile888_Val892delinsMet) c.511_522del c.668_679del n.2792_2803del c.2697_2708del (p.Ile899_Val903delinsMet) | |
12 | g.51765790C>A | CA480061343 | SCN8A | c.2664C>A (p.Ile888=) c.511C>A c.668C>A n.2792C>A c.2697C>A (p.Ile899=) | |
12 | g.51765790C>G | CA384887580 | SCN8A | c.2664C>G (p.Ile888Met) c.511C>G c.668C>G n.2792C>G c.2697C>G (p.Ile899Met) | |
12 | g.51765790C>T | CA480061344 | SCN8A | c.2664C>T (p.Ile888=) c.511C>T c.668C>T n.2792C>T c.2697C>T (p.Ile899=) | |
12 | g.51765791T>A | CA384887585 | SCN8A | c.2665T>A (p.Phe889Ile) c.512T>A c.669T>A n.2793T>A c.2698T>A (p.Phe900Ile) | |
12 | g.51765791T>C | CA384887587 | SCN8A | c.2665T>C (p.Phe889Leu) c.512T>C c.669T>C n.2793T>C c.2698T>C (p.Phe900Leu) | |
12 | g.51765791T>G | CA384887590 | SCN8A | c.2665T>G (p.Phe889Val) c.512T>G c.669T>G n.2793T>G c.2698T>G (p.Phe900Val) | |
12 | g.51765792T>A | CA384887591 | SCN8A | c.2666T>A (p.Phe889Tyr) c.513T>A c.670T>A n.2794T>A c.2699T>A (p.Phe900Tyr) | |
12 | g.51765792T>C | CA384887592 | SCN8A | c.2666T>C (p.Phe889Ser) c.513T>C c.670T>C n.2794T>C c.2699T>C (p.Phe900Ser) | |
12 | g.51765792T>G | CA384887596 | SCN8A | c.2666T>G (p.Phe889Cys) c.513T>G c.670T>G n.2794T>G c.2699T>G (p.Phe900Cys) | |
12 | g.51765793T>A | CA384887604 | SCN8A | c.2667T>A (p.Phe889Leu) c.514T>A c.671T>A n.2795T>A c.2700T>A (p.Phe900Leu) | |
12 | g.51765793T>C | CA480061349 | SCN8A | c.2667T>C (p.Phe889=) c.514T>C c.671T>C n.2795T>C c.2700T>C (p.Phe900=) | |
12 | g.51765793T>G | CA384887599 | SCN8A | c.2667T>G (p.Phe889Leu) c.514T>G c.671T>G n.2795T>G c.2700T>G (p.Phe900Leu) | |
12 | g.51765794G>A | CA10586293 | SCN8A | c.2668G>A (p.Ala890Thr) c.515G>A c.672G>A n.2796G>A c.2701G>A (p.Ala901Thr) | ClinVar dbSNP |
12 | g.51765794G>C | CA384887610 | SCN8A | c.2668G>C (p.Ala890Pro) c.515G>C c.672G>C n.2796G>C c.2701G>C (p.Ala901Pro) | ClinVar dbSNP |
12 | g.51765794G= | CA2036184120 | SCN8A | c.2668G= (p.Ala890=) c.515G= c.672G= n.2796G= c.2701G= (p.Ala901=) | |
12 | g.51765794G>T | CA384887612 | SCN8A | c.2668G>T (p.Ala890Ser) c.515G>T c.672G>T n.2796G>T c.2701G>T (p.Ala901Ser) | |
12 | g.51765795C>A | CA384887617 | SCN8A | c.2669C>A (p.Ala890Asp) c.516C>A c.673C>A n.2797C>A c.2702C>A (p.Ala901Asp) | |
12 | g.51765795C>G | CA384887622 | SCN8A | c.2669C>G (p.Ala890Gly) c.516C>G c.673C>G n.2797C>G c.2702C>G (p.Ala901Gly) | |
12 | g.51765795C>T | CA384887635 | SCN8A | c.2669C>T (p.Ala890Val) c.516C>T c.673C>T n.2797C>T c.2702C>T (p.Ala901Val) | |
12 | g.51765796C>A | CA480061354 | SCN8A | c.2670C>A (p.Ala890=) c.517C>A c.674C>A n.2798C>A c.2703C>A (p.Ala901=) |