Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806856G>ACA480062160SCN8Ac.5370G>A (p.Glu1790=)
c.3434G>A
c.5247G>A (p.Glu1749=)
c.5403G>A (p.Glu1801=)
 gnomAD v4
12g.51806856G>CCA384885592SCN8Ac.5370G>C (p.Glu1790Asp)
c.3434G>C
c.5247G>C (p.Glu1749Asp)
c.5403G>C (p.Glu1801Asp)
12g.51806856G>TCA384885593SCN8Ac.5370G>T (p.Glu1790Asp)
c.3434G>T
c.5247G>T (p.Glu1749Asp)
c.5403G>T (p.Glu1801Asp)
12g.51806857A=CA2036193875SCN8Ac.5371A= (p.Ile1791=)
c.3435A=
c.5248A= (p.Ile1750=)
c.5404A= (p.Ile1802=)
12g.51806857A>CCA6571911SCN8Ac.5371A>C (p.Ile1791Leu)
c.3435A>C
c.5248A>C (p.Ile1750Leu)
c.5404A>C (p.Ile1802Leu)
 dbSNP ExAC gnomAD v2
12g.51806857A>GCA384885598SCN8Ac.5371A>G (p.Ile1791Val)
c.3435A>G
c.5248A>G (p.Ile1750Val)
c.5404A>G (p.Ile1802Val)
12g.51806857A>TCA384885600SCN8Ac.5371A>T (p.Ile1791Phe)
c.3435A>T
c.5248A>T (p.Ile1750Phe)
c.5404A>T (p.Ile1802Phe)
12g.51806858T>ACA384885605SCN8Ac.5372T>A (p.Ile1791Asn)
c.3436T>A
c.5249T>A (p.Ile1750Asn)
c.5405T>A (p.Ile1802Asn)
12g.51806858T>CCA384885607SCN8Ac.5372T>C (p.Ile1791Thr)
c.3436T>C
c.5249T>C (p.Ile1750Thr)
c.5405T>C (p.Ile1802Thr)
 dbSNP
12g.51806858T>GCA384885617SCN8Ac.5372T>G (p.Ile1791Ser)
c.3436T>G
c.5249T>G (p.Ile1750Ser)
c.5405T>G (p.Ile1802Ser)
12g.51806858T=CA2036193878SCN8Ac.5372T= (p.Ile1791=)
c.3436T=
c.5249T= (p.Ile1750=)
c.5405T= (p.Ile1802=)
12g.51806859C>ACA480062165SCN8Ac.5373C>A (p.Ile1791=)
c.3437C>A
c.5250C>A (p.Ile1750=)
c.5406C>A (p.Ile1802=)
12g.51806859C>GCA384885620SCN8Ac.5373C>G (p.Ile1791Met)
c.3437C>G
c.5250C>G (p.Ile1750Met)
c.5406C>G (p.Ile1802Met)
12g.51806859C>TCA480062169SCN8Ac.5373C>T (p.Ile1791=)
c.3437C>T
c.5250C>T (p.Ile1750=)
c.5406C>T (p.Ile1802=)
12g.51806860T>ACA384885626SCN8Ac.5374T>A (p.Trp1792Arg)
c.3438T>A
c.5251T>A (p.Trp1751Arg)
c.5407T>A (p.Trp1803Arg)
12g.51806860T>CCA384885629SCN8Ac.5374T>C (p.Trp1792Arg)
c.3438T>C
c.5251T>C (p.Trp1751Arg)
c.5407T>C (p.Trp1803Arg)
12g.51806860T>GCA384885632SCN8Ac.5374T>G (p.Trp1792Gly)
c.3438T>G
c.5251T>G (p.Trp1751Gly)
c.5407T>G (p.Trp1803Gly)
12g.51806861G>ACA384885638SCN8Ac.5375G>A (p.Trp1792Ter)
c.3439G>A
c.5252G>A (p.Trp1751Ter)
c.5408G>A (p.Trp1803Ter)
 ClinVar dbSNP
12g.51806861G>CCA384885642SCN8Ac.5375G>C (p.Trp1792Ser)
c.3439G>C
c.5252G>C (p.Trp1751Ser)
c.5408G>C (p.Trp1803Ser)
12g.51806861G=CA2036193885SCN8Ac.5375G= (p.Trp1792=)
c.3439G=
c.5252G= (p.Trp1751=)
c.5408G= (p.Trp1803=)
12g.51806861G>TCA384885636SCN8Ac.5375G>T (p.Trp1792Leu)
c.3439G>T
c.5252G>T (p.Trp1751Leu)
c.5408G>T (p.Trp1803Leu)
12g.51806862G>ACA384885647SCN8Ac.5376G>A (p.Trp1792Ter)
c.3440G>A
c.5253G>A (p.Trp1751Ter)
c.5409G>A (p.Trp1803Ter)
 dbSNP
12g.51806862G>CCA384885651SCN8Ac.5376G>C (p.Trp1792Cys)
c.3440G>C
c.5253G>C (p.Trp1751Cys)
c.5409G>C (p.Trp1803Cys)
12g.51806862G=CA2036193888SCN8Ac.5376G= (p.Trp1792=)
c.3440G=
c.5253G= (p.Trp1751=)
c.5409G= (p.Trp1803=)
12g.51806862G>TCA384885654SCN8Ac.5376G>T (p.Trp1792Cys)
c.3440G>T
c.5253G>T (p.Trp1751Cys)
c.5409G>T (p.Trp1803Cys)
12g.51806863G>ACA384885658SCN8Ac.5377G>A (p.Glu1793Lys)
c.3441G>A
c.5254G>A (p.Glu1752Lys)
c.5410G>A (p.Glu1804Lys)
 COSMIC COSMIC
12g.51806863G>CCA384885659SCN8Ac.5377G>C (p.Glu1793Gln)
c.3441G>C
c.5254G>C (p.Glu1752Gln)
c.5410G>C (p.Glu1804Gln)
12g.51806863G=CA2036193897SCN8Ac.5377G= (p.Glu1793=)
c.3441G=
c.5254G= (p.Glu1752=)
c.5410G= (p.Glu1804=)
12g.51806863G>TCA384885663SCN8Ac.5377G>T (p.Glu1793Ter)
c.3441G>T
c.5254G>T (p.Glu1752Ter)
c.5410G>T (p.Glu1804Ter)
 dbSNP
12g.51806864A>CCA384885674SCN8Ac.5378A>C (p.Glu1793Ala)
c.3442A>C
c.5255A>C (p.Glu1752Ala)
c.5411A>C (p.Glu1804Ala)
12g.51806864A>GCA384885670SCN8Ac.5378A>G (p.Glu1793Gly)
c.3442A>G
c.5255A>G (p.Glu1752Gly)
c.5411A>G (p.Glu1804Gly)
12g.51806864A>TCA384885672SCN8Ac.5378A>T (p.Glu1793Val)
c.3442A>T
c.5255A>T (p.Glu1752Val)
c.5411A>T (p.Glu1804Val)
12g.51806865G>ACA480062192SCN8Ac.5379G>A (p.Glu1793=)
c.3443G>A
c.5256G>A (p.Glu1752=)
c.5412G>A (p.Glu1804=)
12g.51806865G>CCA384885677SCN8Ac.5379G>C (p.Glu1793Asp)
c.3443G>C
c.5256G>C (p.Glu1752Asp)
c.5412G>C (p.Glu1804Asp)
12g.51806865G>TCA384885679SCN8Ac.5379G>T (p.Glu1793Asp)
c.3443G>T
c.5256G>T (p.Glu1752Asp)
c.5412G>T (p.Glu1804Asp)
12g.51806866A=CA2036193905SCN8Ac.5380A= (p.Lys1794=)
c.3444A=
c.5257A= (p.Lys1753=)
c.5413A= (p.Lys1805=)
12g.51806866A>CCA384885686SCN8Ac.5380A>C (p.Lys1794Gln)
c.3444A>C
c.5257A>C (p.Lys1753Gln)
c.5413A>C (p.Lys1805Gln)
12g.51806866A>GCA384885687SCN8Ac.5380A>G (p.Lys1794Glu)
c.3444A>G
c.5257A>G (p.Lys1753Glu)
c.5413A>G (p.Lys1805Glu)
12g.51806866A>TCA384885697SCN8Ac.5380A>T (p.Lys1794Ter)
c.3444A>T
c.5257A>T (p.Lys1753Ter)
c.5413A>T (p.Lys1805Ter)
 dbSNP
12g.51806867A>CCA384885701SCN8Ac.5381A>C (p.Lys1794Thr)
c.3445A>C
c.5258A>C (p.Lys1753Thr)
c.5414A>C (p.Lys1805Thr)
12g.51806867A>GCA384885709SCN8Ac.5381A>G (p.Lys1794Arg)
c.3445A>G
c.5258A>G (p.Lys1753Arg)
c.5414A>G (p.Lys1805Arg)
12g.51806867A>TCA384885706SCN8Ac.5381A>T (p.Lys1794Met)
c.3445A>T
c.5258A>T (p.Lys1753Met)
c.5414A>T (p.Lys1805Met)
 gnomAD v4
12g.51806868G>ACA6571912SCN8Ac.5382G>A (p.Lys1794=)
c.3446G>A
c.5259G>A (p.Lys1753=)
c.5415G>A (p.Lys1805=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806868G>CCA384885719SCN8Ac.5382G>C (p.Lys1794Asn)
c.3446G>C
c.5259G>C (p.Lys1753Asn)
c.5415G>C (p.Lys1805Asn)
12g.51806868G=CA2036193915SCN8Ac.5382G= (p.Lys1794=)
c.3446G=
c.5259G= (p.Lys1753=)
c.5415G= (p.Lys1805=)
12g.51806868G>TCA384885721SCN8Ac.5382G>T (p.Lys1794Asn)
c.3446G>T
c.5259G>T (p.Lys1753Asn)
c.5415G>T (p.Lys1805Asn)
12g.51806869T>ACA384885725SCN8Ac.5383T>A (p.Phe1795Ile)
c.3447T>A
c.5260T>A (p.Phe1754Ile)
c.5416T>A (p.Phe1806Ile)
12g.51806869T>CCA384885728SCN8Ac.5383T>C (p.Phe1795Leu)
c.3447T>C
c.5260T>C (p.Phe1754Leu)
c.5416T>C (p.Phe1806Leu)
12g.51806869T>GCA384885730SCN8Ac.5383T>G (p.Phe1795Val)
c.3447T>G
c.5260T>G (p.Phe1754Val)
c.5416T>G (p.Phe1806Val)
12g.51806870T>ACA384885736SCN8Ac.5384T>A (p.Phe1795Tyr)
c.3448T>A
c.5261T>A (p.Phe1754Tyr)
c.5417T>A (p.Phe1806Tyr)

Number of alleles fetched