Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806853T>ACA384885573SCN8Ac.5367T>A (p.Tyr1789Ter)
c.3431T>A
c.5244T>A (p.Tyr1748Ter)
c.5400T>A (p.Tyr1800Ter)
12g.51806853T>CCA480062149SCN8Ac.5367T>C (p.Tyr1789=)
c.3431T>C
c.5244T>C (p.Tyr1748=)
c.5400T>C (p.Tyr1800=)
12g.51806853T>GCA384885575SCN8Ac.5367T>G (p.Tyr1789Ter)
c.3431T>G
c.5244T>G (p.Tyr1748Ter)
c.5400T>G (p.Tyr1800Ter)
 dbSNP gnomAD v3 gnomAD v4
12g.51806854G>ACA384885579SCN8Ac.5368G>A (p.Glu1790Lys)
c.3432G>A
c.5245G>A (p.Glu1749Lys)
c.5401G>A (p.Glu1801Lys)
 gnomAD v4
12g.51806854G>CCA384885581SCN8Ac.5368G>C (p.Glu1790Gln)
c.3432G>C
c.5245G>C (p.Glu1749Gln)
c.5401G>C (p.Glu1801Gln)
12g.51806854G=CA2036193871SCN8Ac.5368G= (p.Glu1790=)
c.3432G=
c.5245G= (p.Glu1749=)
c.5401G= (p.Glu1801=)
12g.51806854G>TCA384885583SCN8Ac.5368G>T (p.Glu1790Ter)
c.3432G>T
c.5245G>T (p.Glu1749Ter)
c.5401G>T (p.Glu1801Ter)
 dbSNP
12g.51806855A>CCA384885588SCN8Ac.5369A>C (p.Glu1790Ala)
c.3433A>C
c.5246A>C (p.Glu1749Ala)
c.5402A>C (p.Glu1801Ala)
12g.51806855A>GCA384885587SCN8Ac.5369A>G (p.Glu1790Gly)
c.3433A>G
c.5246A>G (p.Glu1749Gly)
c.5402A>G (p.Glu1801Gly)
12g.51806855A>TCA384885585SCN8Ac.5369A>T (p.Glu1790Val)
c.3433A>T
c.5246A>T (p.Glu1749Val)
c.5402A>T (p.Glu1801Val)
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)

Number of alleles fetched