Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166242470C>A | CA537511932 | SCN1A-AS1,SCN9A | c.3627+32G>T (n.3627+32G>T) c.3594+32G>T (n.3594+32G>T) n.612-5725C>A c.3240+32G>T (n.3240+32G>T) c.2883+32G>T (n.2883+32G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242470C= | CA1304945540 | SCN1A-AS1,SCN9A | c.3627+32G= (n.3627+32G=) c.3594+32G= (n.3594+32G=) n.612-5725C= c.3240+32G= (n.3240+32G=) c.2883+32G= (n.2883+32G=) | |
2 | g.166242470C>T | CA2661765980 | SCN1A-AS1,SCN9A | c.3627+32G>A (n.3627+32G>A) c.3594+32G>A (n.3594+32G>A) n.612-5725C>T c.3240+32G>A (n.3240+32G>A) c.2883+32G>A (n.2883+32G>A) | gnomAD v4 |
2 | g.166242471A>G | CA2577144902 | SCN1A-AS1,SCN9A | c.3627+31T>C (n.3627+31T>C) c.3594+31T>C (n.3594+31T>C) n.612-5724A>G c.3240+31T>C (n.3240+31T>C) c.2883+31T>C (n.2883+31T>C) | gnomAD v4 |
2 | g.166242472A>G | CA2661765981 | SCN1A-AS1,SCN9A | c.3627+30T>C (n.3627+30T>C) c.3594+30T>C (n.3594+30T>C) n.612-5723A>G c.3240+30T>C (n.3240+30T>C) c.2883+30T>C (n.2883+30T>C) | gnomAD v4 |
2 | g.166242474A>G | CA2661765983 | SCN1A-AS1,SCN9A | c.3627+28T>C (n.3627+28T>C) c.3594+28T>C (n.3594+28T>C) n.612-5721A>G c.3240+28T>C (n.3240+28T>C) c.2883+28T>C (n.2883+28T>C) | gnomAD v4 |
2 | g.166242474A>T | CA2661765982 | SCN1A-AS1,SCN9A | c.3627+28T>A (n.3627+28T>A) c.3594+28T>A (n.3594+28T>A) n.612-5721A>T c.3240+28T>A (n.3240+28T>A) c.2883+28T>A (n.2883+28T>A) | gnomAD v4 |
2 | g.166242475T>A | CA1304945543 | SCN1A-AS1,SCN9A | c.3627+27A>T (n.3627+27A>T) c.3594+27A>T (n.3594+27A>T) n.612-5720T>A c.3240+27A>T (n.3240+27A>T) c.2883+27A>T (n.2883+27A>T) | dbSNP |
2 | g.166242475T>C | CA2661765984 | SCN1A-AS1,SCN9A | c.3627+27A>G (n.3627+27A>G) c.3594+27A>G (n.3594+27A>G) n.612-5720T>C c.3240+27A>G (n.3240+27A>G) c.2883+27A>G (n.2883+27A>G) | gnomAD v4 |
2 | g.166242475T= | CA1304945542 | SCN1A-AS1,SCN9A | c.3627+27A= (n.3627+27A=) c.3594+27A= (n.3594+27A=) n.612-5720T= c.3240+27A= (n.3240+27A=) c.2883+27A= (n.2883+27A=) | |
2 | g.166242477T>C | CA59814590 | SCN1A-AS1,SCN9A | c.3627+25A>G (n.3627+25A>G) c.3594+25A>G (n.3594+25A>G) n.612-5718T>C c.3240+25A>G (n.3240+25A>G) c.2883+25A>G (n.2883+25A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242477T= | CA1304945545 | SCN1A-AS1,SCN9A | c.3627+25A= (n.3627+25A=) c.3594+25A= (n.3594+25A=) n.612-5718T= c.3240+25A= (n.3240+25A=) c.2883+25A= (n.2883+25A=) | |
2 | g.166242478T>C | CA2661765985 | SCN1A-AS1,SCN9A | c.3627+24A>G (n.3627+24A>G) c.3594+24A>G (n.3594+24A>G) n.612-5717T>C c.3240+24A>G (n.3240+24A>G) c.2883+24A>G (n.2883+24A>G) | gnomAD v4 |
2 | g.166242479G>A | CA2661765986 | SCN1A-AS1,SCN9A | c.3627+23C>T (n.3627+23C>T) c.3594+23C>T (n.3594+23C>T) n.612-5716G>A c.3240+23C>T (n.3240+23C>T) c.2883+23C>T (n.2883+23C>T) | gnomAD v4 |
2 | g.166242479G>T | CA2661765987 | SCN1A-AS1,SCN9A | c.3627+23C>A (n.3627+23C>A) c.3594+23C>A (n.3594+23C>A) n.612-5716G>T c.3240+23C>A (n.3240+23C>A) c.2883+23C>A (n.2883+23C>A) | gnomAD v4 |
2 | g.166242480A>G | CA2661765988 | SCN1A-AS1,SCN9A | c.3627+22T>C (n.3627+22T>C) c.3594+22T>C (n.3594+22T>C) n.612-5715A>G c.3240+22T>C (n.3240+22T>C) c.2883+22T>C (n.2883+22T>C) | gnomAD v4 |
2 | g.166242480A>T | CA2661765989 | SCN1A-AS1,SCN9A | c.3627+22T>A (n.3627+22T>A) c.3594+22T>A (n.3594+22T>A) n.612-5715A>T c.3240+22T>A (n.3240+22T>A) c.2883+22T>A (n.2883+22T>A) | gnomAD v4 |
2 | g.166242481C>A | CA2661765990 | SCN1A-AS1,SCN9A | c.3627+21G>T (n.3627+21G>T) c.3594+21G>T (n.3594+21G>T) n.612-5714C>A c.3240+21G>T (n.3240+21G>T) c.2883+21G>T (n.2883+21G>T) | gnomAD v4 |
2 | g.166242481C= | CA1304945546 | SCN1A-AS1,SCN9A | c.3627+21G= (n.3627+21G=) c.3594+21G= (n.3594+21G=) n.612-5714C= c.3240+21G= (n.3240+21G=) c.2883+21G= (n.2883+21G=) | |
2 | g.166242481C>T | CA59814592 | SCN1A-AS1,SCN9A | c.3627+21G>A (n.3627+21G>A) c.3594+21G>A (n.3594+21G>A) n.612-5714C>T c.3240+21G>A (n.3240+21G>A) c.2883+21G>A (n.2883+21G>A) | dbSNP |
2 | g.166242482T>A | CA2661765991 | SCN1A-AS1,SCN9A | c.3627+20A>T (n.3627+20A>T) c.3594+20A>T (n.3594+20A>T) n.612-5713T>A c.3240+20A>T (n.3240+20A>T) c.2883+20A>T (n.2883+20A>T) | gnomAD v4 |
2 | g.166242482T>C | CA2661765992 | SCN1A-AS1,SCN9A | c.3627+20A>G (n.3627+20A>G) c.3594+20A>G (n.3594+20A>G) n.612-5713T>C c.3240+20A>G (n.3240+20A>G) c.2883+20A>G (n.2883+20A>G) | gnomAD v4 |
2 | g.166242483T>C | CA2661765993 | SCN1A-AS1,SCN9A | c.3627+19A>G (n.3627+19A>G) c.3594+19A>G (n.3594+19A>G) n.612-5712T>C c.3240+19A>G (n.3240+19A>G) c.2883+19A>G (n.2883+19A>G) | gnomAD v4 |
2 | g.166242483T>G | CA2661765994 | SCN1A-AS1,SCN9A | c.3627+19A>C (n.3627+19A>C) c.3594+19A>C (n.3594+19A>C) n.612-5712T>G c.3240+19A>C (n.3240+19A>C) c.2883+19A>C (n.2883+19A>C) | gnomAD v4 |
2 | g.166242484A>G | CA2661765995 | SCN1A-AS1,SCN9A | c.3627+18T>C (n.3627+18T>C) c.3594+18T>C (n.3594+18T>C) n.612-5711A>G c.3240+18T>C (n.3240+18T>C) c.2883+18T>C (n.2883+18T>C) | gnomAD v4 |
2 | g.166242484A>T | CA2661765996 | SCN1A-AS1,SCN9A | c.3627+18T>A (n.3627+18T>A) c.3594+18T>A (n.3594+18T>A) n.612-5711A>T c.3240+18T>A (n.3240+18T>A) c.2883+18T>A (n.2883+18T>A) | gnomAD v4 |
2 | g.166242485G>A | CA2753023256 | SCN1A-AS1,SCN9A | c.3627+17C>T (n.3627+17C>T) c.3594+17C>T (n.3594+17C>T) n.612-5710G>A c.3240+17C>T (n.3240+17C>T) c.2883+17C>T (n.2883+17C>T) | |
2 | g.166242485G= | CA1304945548 | SCN1A-AS1,SCN9A | c.3627+17C= (n.3627+17C=) c.3594+17C= (n.3594+17C=) n.612-5710G= c.3240+17C= (n.3240+17C=) c.2883+17C= (n.2883+17C=) | |
2 | g.166242485G>T | CA1944024 | SCN1A-AS1,SCN9A | c.3627+17C>A (n.3627+17C>A) c.3594+17C>A (n.3594+17C>A) n.612-5710G>T c.3240+17C>A (n.3240+17C>A) c.2883+17C>A (n.2883+17C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242486G>A | CA1304945550 | SCN1A-AS1,SCN9A | c.3627+16C>T (n.3627+16C>T) c.3594+16C>T (n.3594+16C>T) n.612-5709G>A c.3240+16C>T (n.3240+16C>T) c.2883+16C>T (n.2883+16C>T) | dbSNP gnomAD v4 |
2 | g.166242486G= | CA1304945549 | SCN1A-AS1,SCN9A | c.3627+16C= (n.3627+16C=) c.3594+16C= (n.3594+16C=) n.612-5709G= c.3240+16C= (n.3240+16C=) c.2883+16C= (n.2883+16C=) | |
2 | g.166242486G>T | CA2661765997 | SCN1A-AS1,SCN9A | c.3627+16C>A (n.3627+16C>A) c.3594+16C>A (n.3594+16C>A) n.612-5709G>T c.3240+16C>A (n.3240+16C>A) c.2883+16C>A (n.2883+16C>A) | gnomAD v4 |
2 | g.166242487T>C | CA2577144903 | SCN1A-AS1,SCN9A | c.3627+15A>G (n.3627+15A>G) c.3594+15A>G (n.3594+15A>G) n.612-5708T>C c.3240+15A>G (n.3240+15A>G) c.2883+15A>G (n.2883+15A>G) | gnomAD v4 |
2 | g.166242488G>T | CA2661765998 | SCN1A-AS1,SCN9A | c.3627+14C>A (n.3627+14C>A) c.3594+14C>A (n.3594+14C>A) n.612-5707G>T c.3240+14C>A (n.3240+14C>A) c.2883+14C>A (n.2883+14C>A) | gnomAD v4 |
2 | g.166242489T>C | CA2661765999 | SCN1A-AS1,SCN9A | c.3627+13A>G (n.3627+13A>G) c.3594+13A>G (n.3594+13A>G) n.612-5706T>C c.3240+13A>G (n.3240+13A>G) c.2883+13A>G (n.2883+13A>G) | gnomAD v4 |
2 | g.166242489T>G | CA2661766000 | SCN1A-AS1,SCN9A | c.3627+13A>C (n.3627+13A>C) c.3594+13A>C (n.3594+13A>C) n.612-5706T>G c.3240+13A>C (n.3240+13A>C) c.2883+13A>C (n.2883+13A>C) | gnomAD v4 |
2 | g.166242490C>A | CA2661766001 | SCN1A-AS1,SCN9A | c.3627+12G>T (n.3627+12G>T) c.3594+12G>T (n.3594+12G>T) n.612-5705C>A c.3240+12G>T (n.3240+12G>T) c.2883+12G>T (n.2883+12G>T) | gnomAD v4 |
2 | g.166242491A>T | CA2661766002 | SCN1A-AS1,SCN9A | c.3627+11T>A (n.3627+11T>A) c.3594+11T>A (n.3594+11T>A) n.612-5704A>T c.3240+11T>A (n.3240+11T>A) c.2883+11T>A (n.2883+11T>A) | gnomAD v4 |
2 | g.166242492G>A | CA2661766004 | SCN1A-AS1,SCN9A | c.3627+10C>T (n.3627+10C>T) c.3594+10C>T (n.3594+10C>T) n.612-5703G>A c.3240+10C>T (n.3240+10C>T) c.2883+10C>T (n.2883+10C>T) | gnomAD v4 |
2 | g.166242492G>C | CA2580064322 | SCN1A-AS1,SCN9A | c.3627+10C>G (n.3627+10C>G) c.3594+10C>G (n.3594+10C>G) n.612-5703G>C c.3240+10C>G (n.3240+10C>G) c.2883+10C>G (n.2883+10C>G) | ClinVar gnomAD v4 |
2 | g.166242493A= | CA1304945552 | SCN1A-AS1,SCN9A | c.3627+9T= (n.3627+9T=) c.3594+9T= (n.3594+9T=) n.612-5702A= c.3240+9T= (n.3240+9T=) c.2883+9T= (n.2883+9T=) | |
2 | g.166242493A>G | CA2661766009 | SCN1A-AS1,SCN9A | c.3627+9T>C (n.3627+9T>C) c.3594+9T>C (n.3594+9T>C) n.612-5702A>G c.3240+9T>C (n.3240+9T>C) c.2883+9T>C (n.2883+9T>C) | gnomAD v4 |
2 | g.166242493A>T | CA1038854992 | SCN1A-AS1,SCN9A | c.3627+9T>A (n.3627+9T>A) c.3594+9T>A (n.3594+9T>A) n.612-5702A>T c.3240+9T>A (n.3240+9T>A) c.2883+9T>A (n.2883+9T>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166242494T>A | CA658653753 | SCN1A-AS1,SCN9A | c.3627+8A>T (n.3627+8A>T) c.3594+8A>T (n.3594+8A>T) n.612-5701T>A c.3240+8A>T (n.3240+8A>T) c.2883+8A>T (n.2883+8A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.166242494T>C | CA2573133526 | SCN1A-AS1,SCN9A | c.3627+8A>G (n.3627+8A>G) c.3594+8A>G (n.3594+8A>G) n.612-5701T>C c.3240+8A>G (n.3240+8A>G) c.2883+8A>G (n.2883+8A>G) | ClinVar dbSNP |
2 | g.166242494T= | CA1304945557 | SCN1A-AS1,SCN9A | c.3627+8A= (n.3627+8A=) c.3594+8A= (n.3594+8A=) n.612-5701T= c.3240+8A= (n.3240+8A=) c.2883+8A= (n.2883+8A=) | |
2 | g.166242495C>A | CA2661766022 | SCN1A-AS1,SCN9A | c.3627+7G>T (n.3627+7G>T) c.3594+7G>T (n.3594+7G>T) n.612-5700C>A c.3240+7G>T (n.3240+7G>T) c.2883+7G>T (n.2883+7G>T) | gnomAD v4 |
2 | g.166242495C= | CA1304945560 | SCN1A-AS1,SCN9A | c.3627+7G= (n.3627+7G=) c.3594+7G= (n.3594+7G=) n.612-5700C= c.3240+7G= (n.3240+7G=) c.2883+7G= (n.2883+7G=) | |
2 | g.166242495C>G | CA537511933 | SCN1A-AS1,SCN9A | c.3627+7G>C (n.3627+7G>C) c.3594+7G>C (n.3594+7G>C) n.612-5700C>G c.3240+7G>C (n.3240+7G>C) c.2883+7G>C (n.2883+7G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242496A>G | CA2661766028 | SCN1A-AS1,SCN9A | c.3627+6T>C (n.3627+6T>C) c.3594+6T>C (n.3594+6T>C) n.612-5699A>G c.3240+6T>C (n.3240+6T>C) c.2883+6T>C (n.2883+6T>C) | gnomAD v4 |
2 | g.166242496A>T | CA2661766029 | SCN1A-AS1,SCN9A | c.3627+6T>A (n.3627+6T>A) c.3594+6T>A (n.3594+6T>A) n.612-5699A>T c.3240+6T>A (n.3240+6T>A) c.2883+6T>A (n.2883+6T>A) | gnomAD v4 |
2 | g.166242499del | CA2661766031 | SCN1A-AS1,SCN9A | c.3627+5del (n.3627+5del) c.3594+5del (n.3594+5del) n.612-5696del c.3240+5del (n.3240+5del) c.2883+5del (n.2883+5del) | gnomAD v4 |
2 | g.166242498T>C | CA2661766033 | SCN1A-AS1,SCN9A | c.3627+4A>G (n.3627+4A>G) c.3594+4A>G (n.3594+4A>G) n.612-5697T>C c.3240+4A>G (n.3240+4A>G) c.2883+4A>G (n.2883+4A>G) | gnomAD v4 |
2 | g.166242499T>C | CA2661766036 | SCN1A-AS1,SCN9A | c.3627+3A>G (n.3627+3A>G) c.3594+3A>G (n.3594+3A>G) n.612-5696T>C c.3240+3A>G (n.3240+3A>G) c.2883+3A>G (n.2883+3A>G) | gnomAD v4 |
2 | g.166242499T>G | CA537511934 | SCN1A-AS1,SCN9A | c.3627+3A>C (n.3627+3A>C) c.3594+3A>C (n.3594+3A>C) n.612-5696T>G c.3240+3A>C (n.3240+3A>C) c.2883+3A>C (n.2883+3A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242499T= | CA1304945562 | SCN1A-AS1,SCN9A | c.3627+3A= (n.3627+3A=) c.3594+3A= (n.3594+3A=) n.612-5696T= c.3240+3A= (n.3240+3A=) c.2883+3A= (n.2883+3A=) | |
2 | g.166242500A>C | CA349069986 | SCN1A-AS1,SCN9A | c.3627+2T>G (n.3627+2T>G) c.3594+2T>G (n.3594+2T>G) n.612-5695A>C c.3240+2T>G (n.3240+2T>G) c.2883+2T>G (n.2883+2T>G) | |
2 | g.166242500A>G | CA349069988 | SCN1A-AS1,SCN9A | c.3627+2T>C (n.3627+2T>C) c.3594+2T>C (n.3594+2T>C) n.612-5695A>G c.3240+2T>C (n.3240+2T>C) c.2883+2T>C (n.2883+2T>C) | |
2 | g.166242500A>T | CA349069991 | SCN1A-AS1,SCN9A | c.3627+2T>A (n.3627+2T>A) c.3594+2T>A (n.3594+2T>A) n.612-5695A>T c.3240+2T>A (n.3240+2T>A) c.2883+2T>A (n.2883+2T>A) | |
2 | g.166242501C>A | CA349069995 | SCN1A-AS1,SCN9A | c.3627+1G>T (n.3627+1G>T) c.3594+1G>T (n.3594+1G>T) n.612-5694C>A c.3240+1G>T (n.3240+1G>T) c.2883+1G>T (n.2883+1G>T) | gnomAD v4 |
2 | g.166242501C>G | CA349070001 | SCN1A-AS1,SCN9A | c.3627+1G>C (n.3627+1G>C) c.3594+1G>C (n.3594+1G>C) n.612-5694C>G c.3240+1G>C (n.3240+1G>C) c.2883+1G>C (n.2883+1G>C) | |
2 | g.166242501C>T | CA349069997 | SCN1A-AS1,SCN9A | c.3627+1G>A (n.3627+1G>A) c.3594+1G>A (n.3594+1G>A) n.612-5694C>T c.3240+1G>A (n.3240+1G>A) c.2883+1G>A (n.2883+1G>A) | gnomAD v4 |
2 | g.166242502C>A | CA429901238 | SCN1A-AS1,SCN9A | c.3627G>T (p.Leu1209=) c.3594G>T (p.Leu1198=) n.612-5693C>A c.3240G>T (p.Leu1080=) c.2883G>T (p.Leu961=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166242502C= | CA1304945564 | SCN1A-AS1,SCN9A | c.3627G= (p.Leu1209=) c.3594G= (p.Leu1198=) n.612-5693C= c.3240G= (p.Leu1080=) c.2883G= (p.Leu961=) | |
2 | g.166242502C>G | CA429901241 | SCN1A-AS1,SCN9A | c.3627G>C (p.Leu1209=) c.3594G>C (p.Leu1198=) n.612-5693C>G c.3240G>C (p.Leu1080=) c.2883G>C (p.Leu961=) | |
2 | g.166242502C>T | CA429901239 | SCN1A-AS1,SCN9A | c.3627G>A (p.Leu1209=) c.3594G>A (p.Leu1198=) n.612-5693C>T c.3240G>A (p.Leu1080=) c.2883G>A (p.Leu961=) | gnomAD v4 |
2 | g.166242503A>C | CA349070005 | SCN1A-AS1,SCN9A | c.3626T>G (p.Leu1209Arg) c.3593T>G (p.Leu1198Arg) n.612-5692A>C c.3239T>G (p.Leu1080Arg) c.2882T>G (p.Leu961Arg) | |
2 | g.166242503A>G | CA349070006 | SCN1A-AS1,SCN9A | c.3626T>C (p.Leu1209Pro) c.3593T>C (p.Leu1198Pro) n.612-5692A>G c.3239T>C (p.Leu1080Pro) c.2882T>C (p.Leu961Pro) | gnomAD v4 |
2 | g.166242503A>T | CA349070009 | SCN1A-AS1,SCN9A | c.3626T>A (p.Leu1209Gln) c.3593T>A (p.Leu1198Gln) n.612-5692A>T c.3239T>A (p.Leu1080Gln) c.2882T>A (p.Leu961Gln) | |
2 | g.166242504G>A | CA429901243 | SCN1A-AS1,SCN9A | c.3625C>T (p.Leu1209=) c.3592C>T (p.Leu1198=) n.612-5691G>A c.3238C>T (p.Leu1080=) c.2881C>T (p.Leu961=) | gnomAD v4 |
2 | g.166242504G>C | CA349070016 | SCN1A-AS1,SCN9A | c.3625C>G (p.Leu1209Val) c.3592C>G (p.Leu1198Val) n.612-5691G>C c.3238C>G (p.Leu1080Val) c.2881C>G (p.Leu961Val) | |
2 | g.166242504G>T | CA349070018 | SCN1A-AS1,SCN9A | c.3625C>A (p.Leu1209Met) c.3592C>A (p.Leu1198Met) n.612-5691G>T c.3238C>A (p.Leu1080Met) c.2881C>A (p.Leu961Met) | gnomAD v4 |
2 | g.166242505G>A | CA429901245 | SCN1A-AS1,SCN9A | c.3624C>T (p.Ala1208=) c.3591C>T (p.Ala1197=) n.612-5690G>A c.3237C>T (p.Ala1079=) c.2880C>T (p.Ala960=) | gnomAD v4 |
2 | g.166242505G>C | CA429901248 | SCN1A-AS1,SCN9A | c.3624C>G (p.Ala1208=) c.3591C>G (p.Ala1197=) n.612-5690G>C c.3237C>G (p.Ala1079=) c.2880C>G (p.Ala960=) | |
2 | g.166242505G>T | CA429901249 | SCN1A-AS1,SCN9A | c.3624C>A (p.Ala1208=) c.3591C>A (p.Ala1197=) n.612-5690G>T c.3237C>A (p.Ala1079=) c.2880C>A (p.Ala960=) | gnomAD v4 |
2 | g.166242506G>A | CA349070020 | SCN1A-AS1,SCN9A | c.3623C>T (p.Ala1208Val) c.3590C>T (p.Ala1197Val) n.612-5689G>A c.3236C>T (p.Ala1079Val) c.2879C>T (p.Ala960Val) | gnomAD v4 |
2 | g.166242506G>C | CA349070021 | SCN1A-AS1,SCN9A | c.3623C>G (p.Ala1208Gly) c.3590C>G (p.Ala1197Gly) n.612-5689G>C c.3236C>G (p.Ala1079Gly) c.2879C>G (p.Ala960Gly) | |
2 | g.166242506G>T | CA349070022 | SCN1A-AS1,SCN9A | c.3623C>A (p.Ala1208Asp) c.3590C>A (p.Ala1197Asp) n.612-5689G>T c.3236C>A (p.Ala1079Asp) c.2879C>A (p.Ala960Asp) | gnomAD v4 |
2 | g.166242507C>A | CA349070023 | SCN1A-AS1,SCN9A | c.3622G>T (p.Ala1208Ser) c.3589G>T (p.Ala1197Ser) n.612-5688C>A c.3235G>T (p.Ala1079Ser) c.2878G>T (p.Ala960Ser) | gnomAD v4 |
2 | g.166242507C>G | CA349070024 | SCN1A-AS1,SCN9A | c.3622G>C (p.Ala1208Pro) c.3589G>C (p.Ala1197Pro) n.612-5688C>G c.3235G>C (p.Ala1079Pro) c.2878G>C (p.Ala960Pro) | |
2 | g.166242507C>T | CA349070025 | SCN1A-AS1,SCN9A | c.3622G>A (p.Ala1208Thr) c.3589G>A (p.Ala1197Thr) n.612-5688C>T c.3235G>A (p.Ala1079Thr) c.2878G>A (p.Ala960Thr) | gnomAD v4 |
2 | g.166242508A= | CA1304945566 | SCN1A-AS1,SCN9A | c.3621T= (p.Gly1207=) c.3588T= (p.Gly1196=) n.612-5687A= c.3234T= (p.Gly1078=) c.2877T= (p.Gly959=) | |
2 | g.166242508A>C | CA429901252 | SCN1A-AS1,SCN9A | c.3621T>G (p.Gly1207=) c.3588T>G (p.Gly1196=) n.612-5687A>C c.3234T>G (p.Gly1078=) c.2877T>G (p.Gly959=) | |
2 | g.166242508A>G | CA429901253 | SCN1A-AS1,SCN9A | c.3621T>C (p.Gly1207=) c.3588T>C (p.Gly1196=) n.612-5687A>G c.3234T>C (p.Gly1078=) c.2877T>C (p.Gly959=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242508A>T | CA429901254 | SCN1A-AS1,SCN9A | c.3621T>A (p.Gly1207=) c.3588T>A (p.Gly1196=) n.612-5687A>T c.3234T>A (p.Gly1078=) c.2877T>A (p.Gly959=) | gnomAD v4 |
2 | g.166242509C>A | CA349070028 | SCN1A-AS1,SCN9A | c.3620G>T (p.Gly1207Val) c.3587G>T (p.Gly1196Val) n.612-5686C>A c.3233G>T (p.Gly1078Val) c.2876G>T (p.Gly959Val) | |
2 | g.166242509C>G | CA349070029 | SCN1A-AS1,SCN9A | c.3620G>C (p.Gly1207Ala) c.3587G>C (p.Gly1196Ala) n.612-5686C>G c.3233G>C (p.Gly1078Ala) c.2876G>C (p.Gly959Ala) | |
2 | g.166242509C>T | CA349070027 | SCN1A-AS1,SCN9A | c.3620G>A (p.Gly1207Asp) c.3587G>A (p.Gly1196Asp) n.612-5686C>T c.3233G>A (p.Gly1078Asp) c.2876G>A (p.Gly959Asp) | ClinVar gnomAD v4 |
2 | g.166242510C>A | CA349070033 | SCN1A-AS1,SCN9A | c.3619G>T (p.Gly1207Cys) c.3586G>T (p.Gly1196Cys) n.612-5685C>A c.3232G>T (p.Gly1078Cys) c.2875G>T (p.Gly959Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242510C= | CA1304945568 | SCN1A-AS1,SCN9A | c.3619G= (p.Gly1207=) c.3586G= (p.Gly1196=) n.612-5685C= c.3232G= (p.Gly1078=) c.2875G= (p.Gly959=) | |
2 | g.166242510C>G | CA349070031 | SCN1A-AS1,SCN9A | c.3619G>C (p.Gly1207Arg) c.3586G>C (p.Gly1196Arg) n.612-5685C>G c.3232G>C (p.Gly1078Arg) c.2875G>C (p.Gly959Arg) | |
2 | g.166242510C>T | CA1944025 | SCN1A-AS1,SCN9A | c.3619G>A (p.Gly1207Ser) c.3586G>A (p.Gly1196Ser) n.612-5685C>T c.3232G>A (p.Gly1078Ser) c.2875G>A (p.Gly959Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166242511A>C | CA349070035 | SCN1A-AS1,SCN9A | c.3618T>G (p.Ser1206Arg) c.3585T>G (p.Ser1195Arg) n.612-5684A>C c.3231T>G (p.Ser1077Arg) c.2874T>G (p.Ser958Arg) | |
2 | g.166242511A>G | CA429901261 | SCN1A-AS1,SCN9A | c.3618T>C (p.Ser1206=) c.3585T>C (p.Ser1195=) n.612-5684A>G c.3231T>C (p.Ser1077=) c.2874T>C (p.Ser958=) | |
2 | g.166242511A>T | CA349070037 | SCN1A-AS1,SCN9A | c.3618T>A (p.Ser1206Arg) c.3585T>A (p.Ser1195Arg) n.612-5684A>T c.3231T>A (p.Ser1077Arg) c.2874T>A (p.Ser958Arg) | gnomAD v4 |
2 | g.166242512C>A | CA349070040 | SCN1A-AS1,SCN9A | c.3617G>T (p.Ser1206Ile) c.3584G>T (p.Ser1195Ile) n.612-5683C>A c.3230G>T (p.Ser1077Ile) c.2873G>T (p.Ser958Ile) | gnomAD v4 |
2 | g.166242512C= | CA1304945572 | SCN1A-AS1,SCN9A | c.3617G= (p.Ser1206=) c.3584G= (p.Ser1195=) n.612-5683C= c.3230G= (p.Ser1077=) c.2873G= (p.Ser958=) | |
2 | g.166242512C>G | CA349070041 | SCN1A-AS1,SCN9A | c.3617G>C (p.Ser1206Thr) c.3584G>C (p.Ser1195Thr) n.612-5683C>G c.3230G>C (p.Ser1077Thr) c.2873G>C (p.Ser958Thr) | dbSNP |
2 | g.166242512C>T | CA349070042 | SCN1A-AS1,SCN9A | c.3617G>A (p.Ser1206Asn) c.3584G>A (p.Ser1195Asn) n.612-5683C>T c.3230G>A (p.Ser1077Asn) c.2873G>A (p.Ser958Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.166242513T>A | CA349070044 | SCN1A-AS1,SCN9A | c.3616A>T (p.Ser1206Cys) c.3583A>T (p.Ser1195Cys) n.612-5682T>A c.3229A>T (p.Ser1077Cys) c.2872A>T (p.Ser958Cys) | gnomAD v4 |
2 | g.166242513T>C | CA349070046 | SCN1A-AS1,SCN9A | c.3616A>G (p.Ser1206Gly) c.3583A>G (p.Ser1195Gly) n.612-5682T>C c.3229A>G (p.Ser1077Gly) c.2872A>G (p.Ser958Gly) | |
2 | g.166242513T>G | CA349070047 | SCN1A-AS1,SCN9A | c.3616A>C (p.Ser1206Arg) c.3583A>C (p.Ser1195Arg) n.612-5682T>G c.3229A>C (p.Ser1077Arg) c.2872A>C (p.Ser958Arg) | |
2 | g.166242514G>A | CA429901264 | SCN1A-AS1,SCN9A | c.3615C>T (p.Ser1205=) c.3582C>T (p.Ser1194=) n.612-5681G>A c.3228C>T (p.Ser1076=) c.2871C>T (p.Ser957=) | gnomAD v4 |
2 | g.166242514G>C | CA349070049 | SCN1A-AS1,SCN9A | c.3615C>G (p.Ser1205Arg) c.3582C>G (p.Ser1194Arg) n.612-5681G>C c.3228C>G (p.Ser1076Arg) c.2871C>G (p.Ser957Arg) | |
2 | g.166242514G>T | CA349070052 | SCN1A-AS1,SCN9A | c.3615C>A (p.Ser1205Arg) c.3582C>A (p.Ser1194Arg) n.612-5681G>T c.3228C>A (p.Ser1076Arg) c.2871C>A (p.Ser957Arg) | gnomAD v4 |
2 | g.166242515C>A | CA349070053 | SCN1A-AS1,SCN9A | c.3614G>T (p.Ser1205Ile) c.3581G>T (p.Ser1194Ile) n.612-5680C>A c.3227G>T (p.Ser1076Ile) c.2870G>T (p.Ser957Ile) | gnomAD v4 |
2 | g.166242515C>G | CA349070054 | SCN1A-AS1,SCN9A | c.3614G>C (p.Ser1205Thr) c.3581G>C (p.Ser1194Thr) n.612-5680C>G c.3227G>C (p.Ser1076Thr) c.2870G>C (p.Ser957Thr) | |
2 | g.166242515C>T | CA349070055 | SCN1A-AS1,SCN9A | c.3614G>A (p.Ser1205Asn) c.3581G>A (p.Ser1194Asn) n.612-5680C>T c.3227G>A (p.Ser1076Asn) c.2870G>A (p.Ser957Asn) | gnomAD v4 |
2 | g.166242516T>A | CA349070059 | SCN1A-AS1,SCN9A | c.3613A>T (p.Ser1205Cys) c.3580A>T (p.Ser1194Cys) n.612-5679T>A c.3226A>T (p.Ser1076Cys) c.2869A>T (p.Ser957Cys) | |
2 | g.166242516T>C | CA349070058 | SCN1A-AS1,SCN9A | c.3613A>G (p.Ser1205Gly) c.3580A>G (p.Ser1194Gly) n.612-5679T>C c.3226A>G (p.Ser1076Gly) c.2869A>G (p.Ser957Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242516T>G | CA349070056 | SCN1A-AS1,SCN9A | c.3613A>C (p.Ser1205Arg) c.3580A>C (p.Ser1194Arg) n.612-5679T>G c.3226A>C (p.Ser1076Arg) c.2869A>C (p.Ser957Arg) | |
2 | g.166242516T= | CA1304945575 | SCN1A-AS1,SCN9A | c.3613A= (p.Ser1205=) c.3580A= (p.Ser1194=) n.612-5679T= c.3226A= (p.Ser1076=) c.2869A= (p.Ser957=) | |
2 | g.166242517G>A | CA429901266 | SCN1A-AS1,SCN9A | c.3612C>T (p.Leu1204=) c.3579C>T (p.Leu1193=) n.612-5678G>A c.3225C>T (p.Leu1075=) c.2868C>T (p.Leu956=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242517G>C | CA429901268 | SCN1A-AS1,SCN9A | c.3612C>G (p.Leu1204=) c.3579C>G (p.Leu1193=) n.612-5678G>C c.3225C>G (p.Leu1075=) c.2868C>G (p.Leu956=) | |
2 | g.166242517G= | CA1304945580 | SCN1A-AS1,SCN9A | c.3612C= (p.Leu1204=) c.3579C= (p.Leu1193=) n.612-5678G= c.3225C= (p.Leu1075=) c.2868C= (p.Leu956=) | |
2 | g.166242517G>T | CA429901267 | SCN1A-AS1,SCN9A | c.3612C>A (p.Leu1204=) c.3579C>A (p.Leu1193=) n.612-5678G>T c.3225C>A (p.Leu1075=) c.2868C>A (p.Leu956=) | gnomAD v4 |
2 | g.166242518A>C | CA349070061 | SCN1A-AS1,SCN9A | c.3611T>G (p.Leu1204Arg) c.3578T>G (p.Leu1193Arg) n.612-5677A>C c.3224T>G (p.Leu1075Arg) c.2867T>G (p.Leu956Arg) | gnomAD v4 |
2 | g.166242518A>G | CA349070063 | SCN1A-AS1,SCN9A | c.3611T>C (p.Leu1204Pro) c.3578T>C (p.Leu1193Pro) n.612-5677A>G c.3224T>C (p.Leu1075Pro) c.2867T>C (p.Leu956Pro) | |
2 | g.166242518A>T | CA349070064 | SCN1A-AS1,SCN9A | c.3611T>A (p.Leu1204His) c.3578T>A (p.Leu1193His) n.612-5677A>T c.3224T>A (p.Leu1075His) c.2867T>A (p.Leu956His) | gnomAD v4 |
2 | g.166242519G>A | CA59814596 | SCN1A-AS1,SCN9A | c.3610C>T (p.Leu1204Phe) c.3577C>T (p.Leu1193Phe) n.612-5676G>A c.3223C>T (p.Leu1075Phe) c.2866C>T (p.Leu956Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242519G>C | CA349070066 | SCN1A-AS1,SCN9A | c.3610C>G (p.Leu1204Val) c.3577C>G (p.Leu1193Val) n.612-5676G>C c.3223C>G (p.Leu1075Val) c.2866C>G (p.Leu956Val) | |
2 | g.166242519G= | CA1304945583 | SCN1A-AS1,SCN9A | c.3610C= (p.Leu1204=) c.3577C= (p.Leu1193=) n.612-5676G= c.3223C= (p.Leu1075=) c.2866C= (p.Leu956=) | |
2 | g.166242519G>T | CA349070068 | SCN1A-AS1,SCN9A | c.3610C>A (p.Leu1204Ile) c.3577C>A (p.Leu1193Ile) n.612-5676G>T c.3223C>A (p.Leu1075Ile) c.2866C>A (p.Leu956Ile) | gnomAD v4 |
2 | g.166242520C>A | CA429901270 | SCN1A-AS1,SCN9A | c.3609G>T (p.Leu1203=) c.3576G>T (p.Leu1192=) n.612-5675C>A c.3222G>T (p.Leu1074=) c.2865G>T (p.Leu955=) | gnomAD v4 |
2 | g.166242520C= | CA1304945585 | SCN1A-AS1,SCN9A | c.3609G= (p.Leu1203=) c.3576G= (p.Leu1192=) n.612-5675C= c.3222G= (p.Leu1074=) c.2865G= (p.Leu955=) | |
2 | g.166242520C>G | CA429901271 | SCN1A-AS1,SCN9A | c.3609G>C (p.Leu1203=) c.3576G>C (p.Leu1192=) n.612-5675C>G c.3222G>C (p.Leu1074=) c.2865G>C (p.Leu955=) | |
2 | g.166242520C>T | CA429901273 | SCN1A-AS1,SCN9A | c.3609G>A (p.Leu1203=) c.3576G>A (p.Leu1192=) n.612-5675C>T c.3222G>A (p.Leu1074=) c.2865G>A (p.Leu955=) | dbSNP gnomAD v4 |
2 | g.166242521A>C | CA349070070 | SCN1A-AS1,SCN9A | c.3608T>G (p.Leu1203Arg) c.3575T>G (p.Leu1192Arg) n.612-5674A>C c.3221T>G (p.Leu1074Arg) c.2864T>G (p.Leu955Arg) | |
2 | g.166242521A>G | CA349070074 | SCN1A-AS1,SCN9A | c.3608T>C (p.Leu1203Pro) c.3575T>C (p.Leu1192Pro) n.612-5674A>G c.3221T>C (p.Leu1074Pro) c.2864T>C (p.Leu955Pro) | ClinVar gnomAD v4 |
2 | g.166242521A>T | CA349070076 | SCN1A-AS1,SCN9A | c.3608T>A (p.Leu1203Gln) c.3575T>A (p.Leu1192Gln) n.612-5674A>T c.3221T>A (p.Leu1074Gln) c.2864T>A (p.Leu955Gln) | |
2 | g.166242522G>A | CA429901274 | SCN1A-AS1,SCN9A | c.3607C>T (p.Leu1203=) c.3574C>T (p.Leu1192=) n.612-5673G>A c.3220C>T (p.Leu1074=) c.2863C>T (p.Leu955=) | gnomAD v4 |
2 | g.166242522G>C | CA349070077 | SCN1A-AS1,SCN9A | c.3607C>G (p.Leu1203Val) c.3574C>G (p.Leu1192Val) n.612-5673G>C c.3220C>G (p.Leu1074Val) c.2863C>G (p.Leu955Val) | |
2 | g.166242522G>T | CA349070079 | SCN1A-AS1,SCN9A | c.3607C>A (p.Leu1203Met) c.3574C>A (p.Leu1192Met) n.612-5673G>T c.3220C>A (p.Leu1074Met) c.2863C>A (p.Leu955Met) | gnomAD v4 |
2 | g.166242523G>A | CA429901275 | SCN1A-AS1,SCN9A | c.3606C>T (p.Ile1202=) c.3573C>T (p.Ile1191=) n.612-5672G>A c.3219C>T (p.Ile1073=) c.2862C>T (p.Ile954=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242523G>C | CA349070087 | SCN1A-AS1,SCN9A | c.3606C>G (p.Ile1202Met) c.3573C>G (p.Ile1191Met) n.612-5672G>C c.3219C>G (p.Ile1073Met) c.2862C>G (p.Ile954Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166242523G= | CA1304945587 | SCN1A-AS1,SCN9A | c.3606C= (p.Ile1202=) c.3573C= (p.Ile1191=) n.612-5672G= c.3219C= (p.Ile1073=) c.2862C= (p.Ile954=) | |
2 | g.166242523G>T | CA429901276 | SCN1A-AS1,SCN9A | c.3606C>A (p.Ile1202=) c.3573C>A (p.Ile1191=) n.612-5672G>T c.3219C>A (p.Ile1073=) c.2862C>A (p.Ile954=) | gnomAD v4 |
2 | g.166242524A>C | CA349070089 | SCN1A-AS1,SCN9A | c.3605T>G (p.Ile1202Ser) c.3572T>G (p.Ile1191Ser) n.612-5671A>C c.3218T>G (p.Ile1073Ser) c.2861T>G (p.Ile954Ser) | |
2 | g.166242524A>G | CA349070092 | SCN1A-AS1,SCN9A | c.3605T>C (p.Ile1202Thr) c.3572T>C (p.Ile1191Thr) n.612-5671A>G c.3218T>C (p.Ile1073Thr) c.2861T>C (p.Ile954Thr) | |
2 | g.166242524A>T | CA349070088 | SCN1A-AS1,SCN9A | c.3605T>A (p.Ile1202Asn) c.3572T>A (p.Ile1191Asn) n.612-5671A>T c.3218T>A (p.Ile1073Asn) c.2861T>A (p.Ile954Asn) | |
2 | g.166242525T>A | CA349070093 | SCN1A-AS1,SCN9A | c.3604A>T (p.Ile1202Phe) c.3571A>T (p.Ile1191Phe) n.612-5670T>A c.3217A>T (p.Ile1073Phe) c.2860A>T (p.Ile954Phe) | |
2 | g.166242525T>C | CA349070095 | SCN1A-AS1,SCN9A | c.3604A>G (p.Ile1202Val) c.3571A>G (p.Ile1191Val) n.612-5670T>C c.3217A>G (p.Ile1073Val) c.2860A>G (p.Ile954Val) | gnomAD v4 |
2 | g.166242525T>G | CA349070096 | SCN1A-AS1,SCN9A | c.3604A>C (p.Ile1202Leu) c.3571A>C (p.Ile1191Leu) n.612-5670T>G c.3217A>C (p.Ile1073Leu) c.2860A>C (p.Ile954Leu) | |
2 | g.166242526C>A | CA349070099 | SCN1A-AS1,SCN9A | c.3603G>T (p.Met1201Ile) c.3570G>T (p.Met1190Ile) n.612-5669C>A c.3216G>T (p.Met1072Ile) c.2859G>T (p.Met953Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242526C= | CA1304945589 | SCN1A-AS1,SCN9A | c.3603G= (p.Met1201=) c.3570G= (p.Met1190=) n.612-5669C= c.3216G= (p.Met1072=) c.2859G= (p.Met953=) | |
2 | g.166242526C>G | CA349070100 | SCN1A-AS1,SCN9A | c.3603G>C (p.Met1201Ile) c.3570G>C (p.Met1190Ile) n.612-5669C>G c.3216G>C (p.Met1072Ile) c.2859G>C (p.Met953Ile) | gnomAD v4 |
2 | g.166242526C>T | CA349070101 | SCN1A-AS1,SCN9A | c.3603G>A (p.Met1201Ile) c.3570G>A (p.Met1190Ile) n.612-5669C>T c.3216G>A (p.Met1072Ile) c.2859G>A (p.Met953Ile) | gnomAD v4 |
2 | g.166242527A= | CA1304945591 | SCN1A-AS1,SCN9A | c.3602T= (p.Met1201=) c.3569T= (p.Met1190=) n.612-5668A= c.3215T= (p.Met1072=) c.2858T= (p.Met953=) | |
2 | g.166242527A>C | CA349070103 | SCN1A-AS1,SCN9A | c.3602T>G (p.Met1201Arg) c.3569T>G (p.Met1190Arg) n.612-5668A>C c.3215T>G (p.Met1072Arg) c.2858T>G (p.Met953Arg) | |
2 | g.166242527A>G | CA59814598 | SCN1A-AS1,SCN9A | c.3602T>C (p.Met1201Thr) c.3569T>C (p.Met1190Thr) n.612-5668A>G c.3215T>C (p.Met1072Thr) c.2858T>C (p.Met953Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166242527A>T | CA349070106 | SCN1A-AS1,SCN9A | c.3602T>A (p.Met1201Lys) c.3569T>A (p.Met1190Lys) n.612-5668A>T c.3215T>A (p.Met1072Lys) c.2858T>A (p.Met953Lys) | |
2 | g.166242528T>A | CA349070111 | SCN1A-AS1,SCN9A | c.3601A>T (p.Met1201Leu) c.3568A>T (p.Met1190Leu) n.612-5667T>A c.3214A>T (p.Met1072Leu) c.2857A>T (p.Met953Leu) | |
2 | g.166242528T>C | CA349070112 | SCN1A-AS1,SCN9A | c.3601A>G (p.Met1201Val) c.3568A>G (p.Met1190Val) n.612-5667T>C c.3214A>G (p.Met1072Val) c.2857A>G (p.Met953Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242528T>G | CA349070114 | SCN1A-AS1,SCN9A | c.3601A>C (p.Met1201Leu) c.3568A>C (p.Met1190Leu) n.612-5667T>G c.3214A>C (p.Met1072Leu) c.2857A>C (p.Met953Leu) | |
2 | g.166242528T= | CA1304945593 | SCN1A-AS1,SCN9A | c.3601A= (p.Met1201=) c.3568A= (p.Met1190=) n.612-5667T= c.3214A= (p.Met1072=) c.2857A= (p.Met953=) | |
2 | g.166242529del | CA2586970376 | SCN1A-AS1,SCN9A | c.3600del (p.Met1201Ter) c.3567del (p.Met1190Ter) n.612-5666del c.3213del (p.Met1072Ter) c.2856del (p.Met953Ter) | |
2 | g.166242529G>A | CA429901278 | SCN1A-AS1,SCN9A | c.3600C>T (p.Leu1200=) c.3567C>T (p.Leu1189=) n.612-5666G>A c.3213C>T (p.Leu1071=) c.2856C>T (p.Leu952=) | |
2 | g.166242529G>C | CA429901279 | SCN1A-AS1,SCN9A | c.3600C>G (p.Leu1200=) c.3567C>G (p.Leu1189=) n.612-5666G>C c.3213C>G (p.Leu1071=) c.2856C>G (p.Leu952=) | |
2 | g.166242529G>T | CA429901280 | SCN1A-AS1,SCN9A | c.3600C>A (p.Leu1200=) c.3567C>A (p.Leu1189=) n.612-5666G>T c.3213C>A (p.Leu1071=) c.2856C>A (p.Leu952=) | |
2 | g.166242530A= | CA1304945598 | SCN1A-AS1,SCN9A | c.3599T= (p.Leu1200=) c.3566T= (p.Leu1189=) n.612-5665A= c.3212T= (p.Leu1071=) c.2855T= (p.Leu952=) | |
2 | g.166242530A>C | CA349070116 | SCN1A-AS1,SCN9A | c.3599T>G (p.Leu1200Arg) c.3566T>G (p.Leu1189Arg) n.612-5665A>C c.3212T>G (p.Leu1071Arg) c.2855T>G (p.Leu952Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242530A>G | CA349070117 | SCN1A-AS1,SCN9A | c.3599T>C (p.Leu1200Pro) c.3566T>C (p.Leu1189Pro) n.612-5665A>G c.3212T>C (p.Leu1071Pro) c.2855T>C (p.Leu952Pro) | gnomAD v4 |
2 | g.166242530A>T | CA349070115 | SCN1A-AS1,SCN9A | c.3599T>A (p.Leu1200His) c.3566T>A (p.Leu1189His) n.612-5665A>T c.3212T>A (p.Leu1071His) c.2855T>A (p.Leu952His) | ClinVar dbSNP gnomAD v4 |
2 | g.166242531G>A | CA59814600 | SCN1A-AS1,SCN9A | c.3598C>T (p.Leu1200Phe) c.3565C>T (p.Leu1189Phe) n.612-5664G>A c.3211C>T (p.Leu1071Phe) c.2854C>T (p.Leu952Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242531G>C | CA349070118 | SCN1A-AS1,SCN9A | c.3598C>G (p.Leu1200Val) c.3565C>G (p.Leu1189Val) n.612-5664G>C c.3211C>G (p.Leu1071Val) c.2854C>G (p.Leu952Val) | |
2 | g.166242531G= | CA1304945603 | SCN1A-AS1,SCN9A | c.3598C= (p.Leu1200=) c.3565C= (p.Leu1189=) n.612-5664G= c.3211C= (p.Leu1071=) c.2854C= (p.Leu952=) | |
2 | g.166242531G>T | CA349070119 | SCN1A-AS1,SCN9A | c.3598C>A (p.Leu1200Ile) c.3565C>A (p.Leu1189Ile) n.612-5664G>T c.3211C>A (p.Leu1071Ile) c.2854C>A (p.Leu952Ile) | gnomAD v4 |
2 | g.166242532G>A | CA429901281 | SCN1A-AS1,SCN9A | c.3597C>T (p.Val1199=) c.3564C>T (p.Val1188=) n.612-5663G>A c.3210C>T (p.Val1070=) c.2853C>T (p.Val951=) | ClinVar dbSNP gnomAD v4 |
2 | g.166242532G>C | CA429901282 | SCN1A-AS1,SCN9A | c.3597C>G (p.Val1199=) c.3564C>G (p.Val1188=) n.612-5663G>C c.3210C>G (p.Val1070=) c.2853C>G (p.Val951=) | |
2 | g.166242532G= | CA1304945605 | SCN1A-AS1,SCN9A | c.3597C= (p.Val1199=) c.3564C= (p.Val1188=) n.612-5663G= c.3210C= (p.Val1070=) c.2853C= (p.Val951=) | |
2 | g.166242532G>T | CA16610193 | SCN1A-AS1,SCN9A | c.3597C>A (p.Val1199=) c.3564C>A (p.Val1188=) n.612-5663G>T c.3210C>A (p.Val1070=) c.2853C>A (p.Val951=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242533A>C | CA349070122 | SCN1A-AS1,SCN9A | c.3596T>G (p.Val1199Gly) c.3563T>G (p.Val1188Gly) n.612-5662A>C c.3209T>G (p.Val1070Gly) c.2852T>G (p.Val951Gly) | |
2 | g.166242533A>G | CA349070121 | SCN1A-AS1,SCN9A | c.3596T>C (p.Val1199Ala) c.3563T>C (p.Val1188Ala) n.612-5662A>G c.3209T>C (p.Val1070Ala) c.2852T>C (p.Val951Ala) | |
2 | g.166242533A>T | CA349070120 | SCN1A-AS1,SCN9A | c.3596T>A (p.Val1199Asp) c.3563T>A (p.Val1188Asp) n.612-5662A>T c.3209T>A (p.Val1070Asp) c.2852T>A (p.Val951Asp) | |
2 | g.166242534C>A | CA349070124 | SCN1A-AS1,SCN9A | c.3595G>T (p.Val1199Phe) c.3562G>T (p.Val1188Phe) n.612-5661C>A c.3208G>T (p.Val1070Phe) c.2851G>T (p.Val951Phe) | gnomAD v4 |
2 | g.166242534C>G | CA349070125 | SCN1A-AS1,SCN9A | c.3595G>C (p.Val1199Leu) c.3562G>C (p.Val1188Leu) n.612-5661C>G c.3208G>C (p.Val1070Leu) c.2851G>C (p.Val951Leu) | gnomAD v4 |
2 | g.166242534C>T | CA349070126 | SCN1A-AS1,SCN9A | c.3595G>A (p.Val1199Ile) c.3562G>A (p.Val1188Ile) n.612-5661C>T c.3208G>A (p.Val1070Ile) c.2851G>A (p.Val951Ile) | gnomAD v4 |
2 | g.166242535A>C | CA349070128 | SCN1A-AS1,SCN9A | c.3594T>G (p.Ile1198Met) c.3561T>G (p.Ile1187Met) n.612-5660A>C c.3207T>G (p.Ile1069Met) c.2850T>G (p.Ile950Met) | |
2 | g.166242535A>G | CA429901283 | SCN1A-AS1,SCN9A | c.3594T>C (p.Ile1198=) c.3561T>C (p.Ile1187=) n.612-5660A>G c.3207T>C (p.Ile1069=) c.2850T>C (p.Ile950=) | |
2 | g.166242535A>T | CA429901284 | SCN1A-AS1,SCN9A | c.3594T>A (p.Ile1198=) c.3561T>A (p.Ile1187=) n.612-5660A>T c.3207T>A (p.Ile1069=) c.2850T>A (p.Ile950=) | |
2 | g.166242536A>C | CA349070129 | SCN1A-AS1,SCN9A | c.3593T>G (p.Ile1198Ser) c.3560T>G (p.Ile1187Ser) n.612-5659A>C c.3206T>G (p.Ile1069Ser) c.2849T>G (p.Ile950Ser) | |
2 | g.166242536A>G | CA349070131 | SCN1A-AS1,SCN9A | c.3593T>C (p.Ile1198Thr) c.3560T>C (p.Ile1187Thr) n.612-5659A>G c.3206T>C (p.Ile1069Thr) c.2849T>C (p.Ile950Thr) | COSMIC COSMIC |
2 | g.166242536A>T | CA349070132 | SCN1A-AS1,SCN9A | c.3593T>A (p.Ile1198Asn) c.3560T>A (p.Ile1187Asn) n.612-5659A>T c.3206T>A (p.Ile1069Asn) c.2849T>A (p.Ile950Asn) | |
2 | g.166242537T>A | CA349070135 | SCN1A-AS1,SCN9A | c.3592A>T (p.Ile1198Phe) c.3559A>T (p.Ile1187Phe) n.612-5658T>A c.3205A>T (p.Ile1069Phe) c.2848A>T (p.Ile950Phe) | |
2 | g.166242537T>C | CA1944026 | SCN1A-AS1,SCN9A | c.3592A>G (p.Ile1198Val) c.3559A>G (p.Ile1187Val) n.612-5658T>C c.3205A>G (p.Ile1069Val) c.2848A>G (p.Ile950Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166242537T>G | CA349070133 | SCN1A-AS1,SCN9A | c.3592A>C (p.Ile1198Leu) c.3559A>C (p.Ile1187Leu) n.612-5658T>G c.3205A>C (p.Ile1069Leu) c.2848A>C (p.Ile950Leu) | |
2 | g.166242537T= | CA1304945607 | SCN1A-AS1,SCN9A | c.3592A= (p.Ile1198=) c.3559A= (p.Ile1187=) n.612-5658T= c.3205A= (p.Ile1069=) c.2848A= (p.Ile950=) | |
2 | g.166242538G>A | CA429901289 | SCN1A-AS1,SCN9A | c.3591C>T (p.Phe1197=) c.3558C>T (p.Phe1186=) n.612-5657G>A c.3204C>T (p.Phe1068=) c.2847C>T (p.Phe949=) | gnomAD v4 |
2 | g.166242538G>C | CA349070138 | SCN1A-AS1,SCN9A | c.3591C>G (p.Phe1197Leu) c.3558C>G (p.Phe1186Leu) n.612-5657G>C c.3204C>G (p.Phe1068Leu) c.2847C>G (p.Phe949Leu) | |
2 | g.166242538G>T | CA349070137 | SCN1A-AS1,SCN9A | c.3591C>A (p.Phe1197Leu) c.3558C>A (p.Phe1186Leu) n.612-5657G>T c.3204C>A (p.Phe1068Leu) c.2847C>A (p.Phe949Leu) | gnomAD v4 |
2 | g.166242539A>C | CA349070143 | SCN1A-AS1,SCN9A | c.3590T>G (p.Phe1197Cys) c.3557T>G (p.Phe1186Cys) n.612-5656A>C c.3203T>G (p.Phe1068Cys) c.2846T>G (p.Phe949Cys) | |
2 | g.166242539A>G | CA349070140 | SCN1A-AS1,SCN9A | c.3590T>C (p.Phe1197Ser) c.3557T>C (p.Phe1186Ser) n.612-5656A>G c.3203T>C (p.Phe1068Ser) c.2846T>C (p.Phe949Ser) | ClinVar |
2 | g.166242539A>T | CA349070142 | SCN1A-AS1,SCN9A | c.3590T>A (p.Phe1197Tyr) c.3557T>A (p.Phe1186Tyr) n.612-5656A>T c.3203T>A (p.Phe1068Tyr) c.2846T>A (p.Phe949Tyr) | |
2 | g.166242540A>C | CA349070144 | SCN1A-AS1,SCN9A | c.3589T>G (p.Phe1197Val) c.3556T>G (p.Phe1186Val) n.612-5655A>C c.3202T>G (p.Phe1068Val) c.2845T>G (p.Phe949Val) | |
2 | g.166242540A>G | CA349070145 | SCN1A-AS1,SCN9A | c.3589T>C (p.Phe1197Leu) c.3556T>C (p.Phe1186Leu) n.612-5655A>G c.3202T>C (p.Phe1068Leu) c.2845T>C (p.Phe949Leu) | gnomAD v4 |
2 | g.166242540A>T | CA349070146 | SCN1A-AS1,SCN9A | c.3589T>A (p.Phe1197Ile) c.3556T>A (p.Phe1186Ile) n.612-5655A>T c.3202T>A (p.Phe1068Ile) c.2845T>A (p.Phe949Ile) | |
2 | g.166242541G>A | CA59814604 | SCN1A-AS1,SCN9A | c.3588C>T (p.Ser1196=) c.3555C>T (p.Ser1185=) n.612-5654G>A c.3201C>T (p.Ser1067=) c.2844C>T (p.Ser948=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242541G>C | CA349070147 | SCN1A-AS1,SCN9A | c.3588C>G (p.Ser1196Arg) c.3555C>G (p.Ser1185Arg) n.612-5654G>C c.3201C>G (p.Ser1067Arg) c.2844C>G (p.Ser948Arg) | |
2 | g.166242541G= | CA1304945609 | SCN1A-AS1,SCN9A | c.3588C= (p.Ser1196=) c.3555C= (p.Ser1185=) n.612-5654G= c.3201C= (p.Ser1067=) c.2844C= (p.Ser948=) | |
2 | g.166242541G>T | CA349070149 | SCN1A-AS1,SCN9A | c.3588C>A (p.Ser1196Arg) c.3555C>A (p.Ser1185Arg) n.612-5654G>T c.3201C>A (p.Ser1067Arg) c.2844C>A (p.Ser948Arg) | gnomAD v4 |
2 | g.166242542del | CA2580064324 | SCN1A-AS1,SCN9A | c.3587del (p.Ser1196ThrfsTer6) c.3554del (p.Ser1185ThrfsTer6) n.612-5653del c.3200del (p.Ser1067ThrfsTer6) c.2843del (p.Ser948ThrfsTer6) | ClinVar gnomAD v4 |
2 | g.166242542C>A | CA349070150 | SCN1A-AS1,SCN9A | c.3587G>T (p.Ser1196Ile) c.3554G>T (p.Ser1185Ile) n.612-5653C>A c.3200G>T (p.Ser1067Ile) c.2843G>T (p.Ser948Ile) | gnomAD v4 |
2 | g.166242542C= | CA1304945612 | SCN1A-AS1,SCN9A | c.3587G= (p.Ser1196=) c.3554G= (p.Ser1185=) n.612-5653C= c.3200G= (p.Ser1067=) c.2843G= (p.Ser948=) | |
2 | g.166242542C>G | CA349070151 | SCN1A-AS1,SCN9A | c.3587G>C (p.Ser1196Thr) c.3554G>C (p.Ser1185Thr) n.612-5653C>G c.3200G>C (p.Ser1067Thr) c.2843G>C (p.Ser948Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242542C>T | CA349070152 | SCN1A-AS1,SCN9A | c.3587G>A (p.Ser1196Asn) c.3554G>A (p.Ser1185Asn) n.612-5653C>T c.3200G>A (p.Ser1067Asn) c.2843G>A (p.Ser948Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.166242543T>A | CA349070153 | SCN1A-AS1,SCN9A | c.3586A>T (p.Ser1196Cys) c.3553A>T (p.Ser1185Cys) n.612-5652T>A c.3199A>T (p.Ser1067Cys) c.2842A>T (p.Ser948Cys) | |
2 | g.166242543T>C | CA349070155 | SCN1A-AS1,SCN9A | c.3586A>G (p.Ser1196Gly) c.3553A>G (p.Ser1185Gly) n.612-5652T>C c.3199A>G (p.Ser1067Gly) c.2842A>G (p.Ser948Gly) | |
2 | g.166242543T>G | CA349070157 | SCN1A-AS1,SCN9A | c.3586A>C (p.Ser1196Arg) c.3553A>C (p.Ser1185Arg) n.612-5652T>G c.3199A>C (p.Ser1067Arg) c.2842A>C (p.Ser948Arg) | |
2 | g.166242544T>A | CA349070159 | SCN1A-AS1,SCN9A | c.3585A>T (p.Glu1195Asp) c.3552A>T (p.Glu1184Asp) n.612-5651T>A c.3198A>T (p.Glu1066Asp) c.2841A>T (p.Glu947Asp) | |
2 | g.166242544T>C | CA429901294 | SCN1A-AS1,SCN9A | c.3585A>G (p.Glu1195=) c.3552A>G (p.Glu1184=) n.612-5651T>C c.3198A>G (p.Glu1066=) c.2841A>G (p.Glu947=) | gnomAD v4 |
2 | g.166242544T>G | CA349070161 | SCN1A-AS1,SCN9A | c.3585A>C (p.Glu1195Asp) c.3552A>C (p.Glu1184Asp) n.612-5651T>G c.3198A>C (p.Glu1066Asp) c.2841A>C (p.Glu947Asp) | |
2 | g.166242545T>A | CA349070163 | SCN1A-AS1,SCN9A | c.3584A>T (p.Glu1195Val) c.3551A>T (p.Glu1184Val) n.612-5650T>A c.3197A>T (p.Glu1066Val) c.2840A>T (p.Glu947Val) | |
2 | g.166242545T>C | CA349070165 | SCN1A-AS1,SCN9A | c.3584A>G (p.Glu1195Gly) c.3551A>G (p.Glu1184Gly) n.612-5650T>C c.3197A>G (p.Glu1066Gly) c.2840A>G (p.Glu947Gly) | |
2 | g.166242545T>G | CA349070167 | SCN1A-AS1,SCN9A | c.3584A>C (p.Glu1195Ala) c.3551A>C (p.Glu1184Ala) n.612-5650T>G c.3197A>C (p.Glu1066Ala) c.2840A>C (p.Glu947Ala) | |
2 | g.166242546C>A | CA349070170 | SCN1A-AS1,SCN9A | c.3583G>T (p.Glu1195Ter) c.3550G>T (p.Glu1184Ter) n.612-5649C>A c.3196G>T (p.Glu1066Ter) c.2839G>T (p.Glu947Ter) | dbSNP gnomAD v4 |
2 | g.166242546C= | CA1304945614 | SCN1A-AS1,SCN9A | c.3583G= (p.Glu1195=) c.3550G= (p.Glu1184=) n.612-5649C= c.3196G= (p.Glu1066=) c.2839G= (p.Glu947=) | |
2 | g.166242546C>G | CA349070172 | SCN1A-AS1,SCN9A | c.3583G>C (p.Glu1195Gln) c.3550G>C (p.Glu1184Gln) n.612-5649C>G c.3196G>C (p.Glu1066Gln) c.2839G>C (p.Glu947Gln) | |
2 | g.166242546C>T | CA349070175 | SCN1A-AS1,SCN9A | c.3583G>A (p.Glu1195Lys) c.3550G>A (p.Glu1184Lys) n.612-5649C>T c.3196G>A (p.Glu1066Lys) c.2839G>A (p.Glu947Lys) | gnomAD v4 |
2 | g.166242547A>C | CA349070184 | SCN1A-AS1,SCN9A | c.3582T>G (p.Phe1194Leu) c.3549T>G (p.Phe1183Leu) n.612-5648A>C c.3195T>G (p.Phe1065Leu) c.2838T>G (p.Phe946Leu) | |
2 | g.166242547A>G | CA429901296 | SCN1A-AS1,SCN9A | c.3582T>C (p.Phe1194=) c.3549T>C (p.Phe1183=) n.612-5648A>G c.3195T>C (p.Phe1065=) c.2838T>C (p.Phe946=) | |
2 | g.166242547A>T | CA349070185 | SCN1A-AS1,SCN9A | c.3582T>A (p.Phe1194Leu) c.3549T>A (p.Phe1183Leu) n.612-5648A>T c.3195T>A (p.Phe1065Leu) c.2838T>A (p.Phe946Leu) | |
2 | g.166242548A>C | CA349070189 | SCN1A-AS1,SCN9A | c.3581T>G (p.Phe1194Cys) c.3548T>G (p.Phe1183Cys) n.612-5647A>C c.3194T>G (p.Phe1065Cys) c.2837T>G (p.Phe946Cys) | |
2 | g.166242548A>G | CA349070191 | SCN1A-AS1,SCN9A | c.3581T>C (p.Phe1194Ser) c.3548T>C (p.Phe1183Ser) n.612-5647A>G c.3194T>C (p.Phe1065Ser) c.2837T>C (p.Phe946Ser) | ClinVar gnomAD v4 |
2 | g.166242548A>T | CA349070193 | SCN1A-AS1,SCN9A | c.3581T>A (p.Phe1194Tyr) c.3548T>A (p.Phe1183Tyr) n.612-5647A>T c.3194T>A (p.Phe1065Tyr) c.2837T>A (p.Phe946Tyr) | gnomAD v4 |
2 | g.166242549A>C | CA349070199 | SCN1A-AS1,SCN9A | c.3580T>G (p.Phe1194Val) c.3547T>G (p.Phe1183Val) n.612-5646A>C c.3193T>G (p.Phe1065Val) c.2836T>G (p.Phe946Val) | |
2 | g.166242549A>G | CA349070198 | SCN1A-AS1,SCN9A | c.3580T>C (p.Phe1194Leu) c.3547T>C (p.Phe1183Leu) n.612-5646A>G c.3193T>C (p.Phe1065Leu) c.2836T>C (p.Phe946Leu) | |
2 | g.166242549A>T | CA349070195 | SCN1A-AS1,SCN9A | c.3580T>A (p.Phe1194Ile) c.3547T>A (p.Phe1183Ile) n.612-5646A>T c.3193T>A (p.Phe1065Ile) c.2836T>A (p.Phe946Ile) | |
2 | g.166242550C>A | CA349070201 | SCN1A-AS1,SCN9A | c.3579G>T (p.Trp1193Cys) c.3546G>T (p.Trp1182Cys) n.612-5645C>A c.3192G>T (p.Trp1064Cys) c.2835G>T (p.Trp945Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242550C= | CA1304945616 | SCN1A-AS1,SCN9A | c.3579G= (p.Trp1193=) c.3546G= (p.Trp1182=) n.612-5645C= c.3192G= (p.Trp1064=) c.2835G= (p.Trp945=) | |
2 | g.166242550C>G | CA349070203 | SCN1A-AS1,SCN9A | c.3579G>C (p.Trp1193Cys) c.3546G>C (p.Trp1182Cys) n.612-5645C>G c.3192G>C (p.Trp1064Cys) c.2835G>C (p.Trp945Cys) | |
2 | g.166242550C>T | CA349070207 | SCN1A-AS1,SCN9A | c.3579G>A (p.Trp1193Ter) c.3546G>A (p.Trp1182Ter) n.612-5645C>T c.3192G>A (p.Trp1064Ter) c.2835G>A (p.Trp945Ter) | dbSNP |
2 | g.166242551C>A | CA349070210 | SCN1A-AS1,SCN9A | c.3578G>T (p.Trp1193Leu) c.3545G>T (p.Trp1182Leu) n.612-5644C>A c.3191G>T (p.Trp1064Leu) c.2834G>T (p.Trp945Leu) | ClinVar gnomAD v4 |
2 | g.166242551C>G | CA349070211 | SCN1A-AS1,SCN9A | c.3578G>C (p.Trp1193Ser) c.3545G>C (p.Trp1182Ser) n.612-5644C>G c.3191G>C (p.Trp1064Ser) c.2834G>C (p.Trp945Ser) | |
2 | g.166242551C>T | CA349070214 | SCN1A-AS1,SCN9A | c.3578G>A (p.Trp1193Ter) c.3545G>A (p.Trp1182Ter) n.612-5644C>T c.3191G>A (p.Trp1064Ter) c.2834G>A (p.Trp945Ter) | |
2 | g.166242552A>C | CA349070217 | SCN1A-AS1,SCN9A | c.3577T>G (p.Trp1193Gly) c.3544T>G (p.Trp1182Gly) n.612-5643A>C c.3190T>G (p.Trp1064Gly) c.2833T>G (p.Trp945Gly) | |
2 | g.166242552A>G | CA349070222 | SCN1A-AS1,SCN9A | c.3577T>C (p.Trp1193Arg) c.3544T>C (p.Trp1182Arg) n.612-5643A>G c.3190T>C (p.Trp1064Arg) c.2833T>C (p.Trp945Arg) | |
2 | g.166242552A>T | CA349070223 | SCN1A-AS1,SCN9A | c.3577T>A (p.Trp1193Arg) c.3544T>A (p.Trp1182Arg) n.612-5643A>T c.3190T>A (p.Trp1064Arg) c.2833T>A (p.Trp945Arg) | gnomAD v4 |
2 | g.166242553A= | CA1304945618 | SCN1A-AS1,SCN9A | c.3576T= (p.Ser1192=) c.3543T= (p.Ser1181=) n.612-5642A= c.3189T= (p.Ser1063=) c.2832T= (p.Ser944=) | |
2 | g.166242553A>C | CA349070225 | SCN1A-AS1,SCN9A | c.3576T>G (p.Ser1192Arg) c.3543T>G (p.Ser1181Arg) n.612-5642A>C c.3189T>G (p.Ser1063Arg) c.2832T>G (p.Ser944Arg) | |
2 | g.166242553A>G | CA1944027 | SCN1A-AS1,SCN9A | c.3576T>C (p.Ser1192=) c.3543T>C (p.Ser1181=) n.612-5642A>G c.3189T>C (p.Ser1063=) c.2832T>C (p.Ser944=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242553A>T | CA349070227 | SCN1A-AS1,SCN9A | c.3576T>A (p.Ser1192Arg) c.3543T>A (p.Ser1181Arg) n.612-5642A>T c.3189T>A (p.Ser1063Arg) c.2832T>A (p.Ser944Arg) | gnomAD v4 |
2 | g.166242554C>A | CA349070231 | SCN1A-AS1,SCN9A | c.3575G>T (p.Ser1192Ile) c.3542G>T (p.Ser1181Ile) n.612-5641C>A c.3188G>T (p.Ser1063Ile) c.2831G>T (p.Ser944Ile) | gnomAD v4 |
2 | g.166242554C>G | CA349070233 | SCN1A-AS1,SCN9A | c.3575G>C (p.Ser1192Thr) c.3542G>C (p.Ser1181Thr) n.612-5641C>G c.3188G>C (p.Ser1063Thr) c.2831G>C (p.Ser944Thr) | COSMIC COSMIC |
2 | g.166242554C>T | CA349070230 | SCN1A-AS1,SCN9A | c.3575G>A (p.Ser1192Asn) c.3542G>A (p.Ser1181Asn) n.612-5641C>T c.3188G>A (p.Ser1063Asn) c.2831G>A (p.Ser944Asn) | ClinVar dbSNP gnomAD v4 |
2 | g.166242555T>A | CA349070237 | SCN1A-AS1,SCN9A | c.3574A>T (p.Ser1192Cys) c.3541A>T (p.Ser1181Cys) n.612-5640T>A c.3187A>T (p.Ser1063Cys) c.2830A>T (p.Ser944Cys) | |
2 | g.166242555T>C | CA349070239 | SCN1A-AS1,SCN9A | c.3574A>G (p.Ser1192Gly) c.3541A>G (p.Ser1181Gly) n.612-5640T>C c.3187A>G (p.Ser1063Gly) c.2830A>G (p.Ser944Gly) | gnomAD v4 |
2 | g.166242555T>G | CA349070242 | SCN1A-AS1,SCN9A | c.3574A>C (p.Ser1192Arg) c.3541A>C (p.Ser1181Arg) n.612-5640T>G c.3187A>C (p.Ser1063Arg) c.2830A>C (p.Ser944Arg) | |
2 | g.166242556G>A | CA1944028 | SCN1A-AS1,SCN9A | c.3573C>T (p.His1191=) c.3540C>T (p.His1180=) n.612-5639G>A c.3186C>T (p.His1062=) c.2829C>T (p.His943=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242556G>C | CA349070246 | SCN1A-AS1,SCN9A | c.3573C>G (p.His1191Gln) c.3540C>G (p.His1180Gln) n.612-5639G>C c.3186C>G (p.His1062Gln) c.2829C>G (p.His943Gln) | gnomAD v4 |
2 | g.166242556G= | CA1304945621 | SCN1A-AS1,SCN9A | c.3573C= (p.His1191=) c.3540C= (p.His1180=) n.612-5639G= c.3186C= (p.His1062=) c.2829C= (p.His943=) | |
2 | g.166242556G>T | CA349070248 | SCN1A-AS1,SCN9A | c.3573C>A (p.His1191Gln) c.3540C>A (p.His1180Gln) n.612-5639G>T c.3186C>A (p.His1062Gln) c.2829C>A (p.His943Gln) | |
2 | g.166242557T>A | CA349070251 | SCN1A-AS1,SCN9A | c.3572A>T (p.His1191Leu) c.3539A>T (p.His1180Leu) n.612-5638T>A c.3185A>T (p.His1062Leu) c.2828A>T (p.His943Leu) | |
2 | g.166242557T>C | CA349070253 | SCN1A-AS1,SCN9A | c.3572A>G (p.His1191Arg) c.3539A>G (p.His1180Arg) n.612-5638T>C c.3185A>G (p.His1062Arg) c.2828A>G (p.His943Arg) | gnomAD v4 |
2 | g.166242557T>G | CA349070252 | SCN1A-AS1,SCN9A | c.3572A>C (p.His1191Pro) c.3539A>C (p.His1180Pro) n.612-5638T>G c.3185A>C (p.His1062Pro) c.2828A>C (p.His943Pro) | |
2 | g.166242558G>A | CA349070254 | SCN1A-AS1,SCN9A | c.3571C>T (p.His1191Tyr) c.3538C>T (p.His1180Tyr) n.612-5637G>A c.3184C>T (p.His1062Tyr) c.2827C>T (p.His943Tyr) | gnomAD v4 |
2 | g.166242558G>C | CA349070255 | SCN1A-AS1,SCN9A | c.3571C>G (p.His1191Asp) c.3538C>G (p.His1180Asp) n.612-5637G>C c.3184C>G (p.His1062Asp) c.2827C>G (p.His943Asp) | |
2 | g.166242558G>T | CA349070256 | SCN1A-AS1,SCN9A | c.3571C>A (p.His1191Asn) c.3538C>A (p.His1180Asn) n.612-5637G>T c.3184C>A (p.His1062Asn) c.2827C>A (p.His943Asn) | |
2 | g.166242559T>A | CA349070257 | SCN1A-AS1,SCN9A | c.3570A>T (p.Glu1190Asp) c.3537A>T (p.Glu1179Asp) n.612-5636T>A c.3183A>T (p.Glu1061Asp) c.2826A>T (p.Glu942Asp) | |
2 | g.166242559T>C | CA429901306 | SCN1A-AS1,SCN9A | c.3570A>G (p.Glu1190=) c.3537A>G (p.Glu1179=) n.612-5636T>C c.3183A>G (p.Glu1061=) c.2826A>G (p.Glu942=) | gnomAD v4 |
2 | g.166242559T>G | CA349070258 | SCN1A-AS1,SCN9A | c.3570A>C (p.Glu1190Asp) c.3537A>C (p.Glu1179Asp) n.612-5636T>G c.3183A>C (p.Glu1061Asp) c.2826A>C (p.Glu942Asp) | |
2 | g.166242560T>A | CA349070267 | SCN1A-AS1,SCN9A | c.3569A>T (p.Glu1190Val) c.3536A>T (p.Glu1179Val) n.612-5635T>A c.3182A>T (p.Glu1061Val) c.2825A>T (p.Glu942Val) | gnomAD v4 |
2 | g.166242560T>C | CA349070270 | SCN1A-AS1,SCN9A | c.3569A>G (p.Glu1190Gly) c.3536A>G (p.Glu1179Gly) n.612-5635T>C c.3182A>G (p.Glu1061Gly) c.2825A>G (p.Glu942Gly) | |
2 | g.166242560T>G | CA349070262 | SCN1A-AS1,SCN9A | c.3569A>C (p.Glu1190Ala) c.3536A>C (p.Glu1179Ala) n.612-5635T>G c.3182A>C (p.Glu1061Ala) c.2825A>C (p.Glu942Ala) | gnomAD v4 |
2 | g.166242561C>A | CA349070272 | SCN1A-AS1,SCN9A | c.3568G>T (p.Glu1190Ter) c.3535G>T (p.Glu1179Ter) n.612-5634C>A c.3181G>T (p.Glu1061Ter) c.2824G>T (p.Glu942Ter) | dbSNP gnomAD v4 |
2 | g.166242561C= | CA1304945622 | SCN1A-AS1,SCN9A | c.3568G= (p.Glu1190=) c.3535G= (p.Glu1179=) n.612-5634C= c.3181G= (p.Glu1061=) c.2824G= (p.Glu942=) | |
2 | g.166242561C>G | CA349070276 | SCN1A-AS1,SCN9A | c.3568G>C (p.Glu1190Gln) c.3535G>C (p.Glu1179Gln) n.612-5634C>G c.3181G>C (p.Glu1061Gln) c.2824G>C (p.Glu942Gln) | |
2 | g.166242561C>T | CA349070274 | SCN1A-AS1,SCN9A | c.3568G>A (p.Glu1190Lys) c.3535G>A (p.Glu1179Lys) n.612-5634C>T c.3181G>A (p.Glu1061Lys) c.2824G>A (p.Glu942Lys) | |
2 | g.166242562A>C | CA429901312 | SCN1A-AS1,SCN9A | c.3567T>G (p.Val1189=) c.3534T>G (p.Val1178=) n.612-5633A>C c.3180T>G (p.Val1060=) c.2823T>G (p.Val941=) | |
2 | g.166242562A>G | CA429901313 | SCN1A-AS1,SCN9A | c.3567T>C (p.Val1189=) c.3534T>C (p.Val1178=) n.612-5633A>G c.3180T>C (p.Val1060=) c.2823T>C (p.Val941=) | |
2 | g.166242562A>T | CA429901315 | SCN1A-AS1,SCN9A | c.3567T>A (p.Val1189=) c.3534T>A (p.Val1178=) n.612-5633A>T c.3180T>A (p.Val1060=) c.2823T>A (p.Val941=) | |
2 | g.166242563A= | CA1304945623 | SCN1A-AS1,SCN9A | c.3566T= (p.Val1189=) c.3533T= (p.Val1178=) n.612-5632A= c.3179T= (p.Val1060=) c.2822T= (p.Val941=) | |
2 | g.166242563A>C | CA1944029 | SCN1A-AS1,SCN9A | c.3566T>G (p.Val1189Gly) c.3533T>G (p.Val1178Gly) n.612-5632A>C c.3179T>G (p.Val1060Gly) c.2822T>G (p.Val941Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242563A>G | CA349070277 | SCN1A-AS1,SCN9A | c.3566T>C (p.Val1189Ala) c.3533T>C (p.Val1178Ala) n.612-5632A>G c.3179T>C (p.Val1060Ala) c.2822T>C (p.Val941Ala) | gnomAD v4 |
2 | g.166242563A>T | CA349070278 | SCN1A-AS1,SCN9A | c.3566T>A (p.Val1189Asp) c.3533T>A (p.Val1178Asp) n.612-5632A>T c.3179T>A (p.Val1060Asp) c.2822T>A (p.Val941Asp) | |
2 | g.166242564C>A | CA349070279 | SCN1A-AS1,SCN9A | c.3565G>T (p.Val1189Phe) c.3532G>T (p.Val1178Phe) n.612-5631C>A c.3178G>T (p.Val1060Phe) c.2821G>T (p.Val941Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166242564C= | CA1304945626 | SCN1A-AS1,SCN9A | c.3565G= (p.Val1189=) c.3532G= (p.Val1178=) n.612-5631C= c.3178G= (p.Val1060=) c.2821G= (p.Val941=) | |
2 | g.166242564C>G | CA349070280 | SCN1A-AS1,SCN9A | c.3565G>C (p.Val1189Leu) c.3532G>C (p.Val1178Leu) n.612-5631C>G c.3178G>C (p.Val1060Leu) c.2821G>C (p.Val941Leu) | |
2 | g.166242564C>T | CA349070282 | SCN1A-AS1,SCN9A | c.3565G>A (p.Val1189Ile) c.3532G>A (p.Val1178Ile) n.612-5631C>T c.3178G>A (p.Val1060Ile) c.2821G>A (p.Val941Ile) | gnomAD v4 |
2 | g.166242565A>C | CA349070284 | SCN1A-AS1,SCN9A | c.3564T>G (p.Ile1188Met) c.3531T>G (p.Ile1177Met) n.612-5630A>C c.3177T>G (p.Ile1059Met) c.2820T>G (p.Ile940Met) | |
2 | g.166242565A>G | CA429901318 | SCN1A-AS1,SCN9A | c.3564T>C (p.Ile1188=) c.3531T>C (p.Ile1177=) n.612-5630A>G c.3177T>C (p.Ile1059=) c.2820T>C (p.Ile940=) | gnomAD v4 |
2 | g.166242565A>T | CA429901320 | SCN1A-AS1,SCN9A | c.3564T>A (p.Ile1188=) c.3531T>A (p.Ile1177=) n.612-5630A>T c.3177T>A (p.Ile1059=) c.2820T>A (p.Ile940=) | |
2 | g.166242566A= | CA1304945627 | SCN1A-AS1,SCN9A | c.3563T= (p.Ile1188=) c.3530T= (p.Ile1177=) n.612-5629A= c.3176T= (p.Ile1059=) c.2819T= (p.Ile940=) | |
2 | g.166242566A>C | CA349070287 | SCN1A-AS1,SCN9A | c.3563T>G (p.Ile1188Ser) c.3530T>G (p.Ile1177Ser) n.612-5629A>C c.3176T>G (p.Ile1059Ser) c.2819T>G (p.Ile940Ser) | |
2 | g.166242566A>G | CA349070289 | SCN1A-AS1,SCN9A | c.3563T>C (p.Ile1188Thr) c.3530T>C (p.Ile1177Thr) n.612-5629A>G c.3176T>C (p.Ile1059Thr) c.2819T>C (p.Ile940Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242566A>T | CA349070292 | SCN1A-AS1,SCN9A | c.3563T>A (p.Ile1188Asn) c.3530T>A (p.Ile1177Asn) n.612-5629A>T c.3176T>A (p.Ile1059Asn) c.2819T>A (p.Ile940Asn) | |
2 | g.166242567T>A | CA349070294 | SCN1A-AS1,SCN9A | c.3562A>T (p.Ile1188Phe) c.3529A>T (p.Ile1177Phe) n.612-5628T>A c.3175A>T (p.Ile1059Phe) c.2818A>T (p.Ile940Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242567T>C | CA349070295 | SCN1A-AS1,SCN9A | c.3562A>G (p.Ile1188Val) c.3529A>G (p.Ile1177Val) n.612-5628T>C c.3175A>G (p.Ile1059Val) c.2818A>G (p.Ile940Val) | |
2 | g.166242567T>G | CA349070296 | SCN1A-AS1,SCN9A | c.3562A>C (p.Ile1188Leu) c.3529A>C (p.Ile1177Leu) n.612-5628T>G c.3175A>C (p.Ile1059Leu) c.2818A>C (p.Ile940Leu) | |
2 | g.166242567T= | CA1304945628 | SCN1A-AS1,SCN9A | c.3562A= (p.Ile1188=) c.3529A= (p.Ile1177=) n.612-5628T= c.3175A= (p.Ile1059=) c.2818A= (p.Ile940=) | |
2 | g.166242568C>A | CA349070298 | SCN1A-AS1,SCN9A | c.3561G>T (p.Lys1187Asn) c.3528G>T (p.Lys1176Asn) n.612-5627C>A c.3174G>T (p.Lys1058Asn) c.2817G>T (p.Lys939Asn) | gnomAD v4 |
2 | g.166242568C= | CA1304945630 | SCN1A-AS1,SCN9A | c.3561G= (p.Lys1187=) c.3528G= (p.Lys1176=) n.612-5627C= c.3174G= (p.Lys1058=) c.2817G= (p.Lys939=) | |
2 | g.166242568C>G | CA1944030 | SCN1A-AS1,SCN9A | c.3561G>C (p.Lys1187Asn) c.3528G>C (p.Lys1176Asn) n.612-5627C>G c.3174G>C (p.Lys1058Asn) c.2817G>C (p.Lys939Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166242568C>T | CA429901325 | SCN1A-AS1,SCN9A | c.3561G>A (p.Lys1187=) c.3528G>A (p.Lys1176=) n.612-5627C>T c.3174G>A (p.Lys1058=) c.2817G>A (p.Lys939=) | |
2 | g.166242569T>A | CA349070303 | SCN1A-AS1,SCN9A | c.3560A>T (p.Lys1187Met) c.3527A>T (p.Lys1176Met) n.612-5626T>A c.3173A>T (p.Lys1058Met) c.2816A>T (p.Lys939Met) | |
2 | g.166242569T>C | CA349070305 | SCN1A-AS1,SCN9A | c.3560A>G (p.Lys1187Arg) c.3527A>G (p.Lys1176Arg) n.612-5626T>C c.3173A>G (p.Lys1058Arg) c.2816A>G (p.Lys939Arg) | |
2 | g.166242569T>G | CA349070306 | SCN1A-AS1,SCN9A | c.3560A>C (p.Lys1187Thr) c.3527A>C (p.Lys1176Thr) n.612-5626T>G c.3173A>C (p.Lys1058Thr) c.2816A>C (p.Lys939Thr) | |
2 | g.166242570T>A | CA349070311 | SCN1A-AS1,SCN9A | c.3559A>T (p.Lys1187Ter) c.3526A>T (p.Lys1176Ter) n.612-5625T>A c.3172A>T (p.Lys1058Ter) c.2815A>T (p.Lys939Ter) | dbSNP |
2 | g.166242570T>C | CA349070313 | SCN1A-AS1,SCN9A | c.3559A>G (p.Lys1187Glu) c.3526A>G (p.Lys1176Glu) n.612-5625T>C c.3172A>G (p.Lys1058Glu) c.2815A>G (p.Lys939Glu) | |
2 | g.166242570T>G | CA349070315 | SCN1A-AS1,SCN9A | c.3559A>C (p.Lys1187Gln) c.3526A>C (p.Lys1176Gln) n.612-5625T>G c.3172A>C (p.Lys1058Gln) c.2815A>C (p.Lys939Gln) | |
2 | g.166242570T= | CA1304945632 | SCN1A-AS1,SCN9A | c.3559A= (p.Lys1187=) c.3526A= (p.Lys1176=) n.612-5625T= c.3172A= (p.Lys1058=) c.2815A= (p.Lys939=) |