Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806848T>ACA384885542SCN8Ac.5362T>A (p.Phe1788Ile)
c.3426T>A
c.5239T>A (p.Phe1747Ile)
c.5395T>A (p.Phe1799Ile)
12g.51806848T>CCA384885543SCN8Ac.5362T>C (p.Phe1788Leu)
c.3426T>C
c.5239T>C (p.Phe1747Leu)
c.5395T>C (p.Phe1799Leu)
12g.51806848T>GCA384885545SCN8Ac.5362T>G (p.Phe1788Val)
c.3426T>G
c.5239T>G (p.Phe1747Val)
c.5395T>G (p.Phe1799Val)
 ClinVar
12g.51806849T>ACA384885551SCN8Ac.5363T>A (p.Phe1788Tyr)
c.3427T>A
c.5240T>A (p.Phe1747Tyr)
c.5396T>A (p.Phe1799Tyr)
12g.51806849T>CCA384885553SCN8Ac.5363T>C (p.Phe1788Ser)
c.3427T>C
c.5240T>C (p.Phe1747Ser)
c.5396T>C (p.Phe1799Ser)
12g.51806849T>GCA384885548SCN8Ac.5363T>G (p.Phe1788Cys)
c.3427T>G
c.5240T>G (p.Phe1747Cys)
c.5396T>G (p.Phe1799Cys)
 gnomAD v4
12g.51806850C>ACA384885555SCN8Ac.5364C>A (p.Phe1788Leu)
c.3428C>A
c.5241C>A (p.Phe1747Leu)
c.5397C>A (p.Phe1799Leu)
12g.51806850C>GCA384885556SCN8Ac.5364C>G (p.Phe1788Leu)
c.3428C>G
c.5241C>G (p.Phe1747Leu)
c.5397C>G (p.Phe1799Leu)
12g.51806850C>TCA480062132SCN8Ac.5364C>T (p.Phe1788=)
c.3428C>T
c.5241C>T (p.Phe1747=)
c.5397C>T (p.Phe1799=)
12g.51806851T>ACA384885559SCN8Ac.5365T>A (p.Tyr1789Asn)
c.3429T>A
c.5242T>A (p.Tyr1748Asn)
c.5398T>A (p.Tyr1800Asn)
12g.51806851T>CCA384885561SCN8Ac.5365T>C (p.Tyr1789His)
c.3429T>C
c.5242T>C (p.Tyr1748His)
c.5398T>C (p.Tyr1800His)
12g.51806851T>GCA384885563SCN8Ac.5365T>G (p.Tyr1789Asp)
c.3429T>G
c.5242T>G (p.Tyr1748Asp)
c.5398T>G (p.Tyr1800Asp)
12g.51806852A=CA2036193866SCN8Ac.5366A= (p.Tyr1789=)
c.3430A=
c.5243A= (p.Tyr1748=)
c.5399A= (p.Tyr1800=)
12g.51806852A>CCA384885566SCN8Ac.5366A>C (p.Tyr1789Ser)
c.3430A>C
c.5243A>C (p.Tyr1748Ser)
c.5399A>C (p.Tyr1800Ser)
12g.51806852A>GCA236327597SCN8Ac.5366A>G (p.Tyr1789Cys)
c.3430A>G
c.5243A>G (p.Tyr1748Cys)
c.5399A>G (p.Tyr1800Cys)
 ClinVar dbSNP gnomAD v4
12g.51806852A>TCA384885569SCN8Ac.5366A>T (p.Tyr1789Phe)
c.3430A>T
c.5243A>T (p.Tyr1748Phe)
c.5399A>T (p.Tyr1800Phe)
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=)

Number of alleles fetched