Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806841T>ACA384885504SCN8Ac.5355T>A (p.Phe1785Leu)
c.3419T>A
c.5232T>A (p.Phe1744Leu)
c.5388T>A (p.Phe1796Leu)
12g.51806841T>CCA480062103SCN8Ac.5355T>C (p.Phe1785=)
c.3419T>C
c.5232T>C (p.Phe1744=)
c.5388T>C (p.Phe1796=)
12g.51806841T>GCA384885506SCN8Ac.5355T>G (p.Phe1785Leu)
c.3419T>G
c.5232T>G (p.Phe1744Leu)
c.5388T>G (p.Phe1796Leu)
 gnomAD v4
12g.51806842G>ACA384885511SCN8Ac.5356G>A (p.Glu1786Lys)
c.3420G>A
c.5233G>A (p.Glu1745Lys)
c.5389G>A (p.Glu1797Lys)
12g.51806842G>CCA384885514SCN8Ac.5356G>C (p.Glu1786Gln)
c.3420G>C
c.5233G>C (p.Glu1745Gln)
c.5389G>C (p.Glu1797Gln)
12g.51806842G>TCA384885509SCN8Ac.5356G>T (p.Glu1786Ter)
c.3420G>T
c.5233G>T (p.Glu1745Ter)
c.5389G>T (p.Glu1797Ter)
12g.51806843A>CCA384885517SCN8Ac.5357A>C (p.Glu1786Ala)
c.3421A>C
c.5234A>C (p.Glu1745Ala)
c.5390A>C (p.Glu1797Ala)
12g.51806843A>GCA384885519SCN8Ac.5357A>G (p.Glu1786Gly)
c.3421A>G
c.5234A>G (p.Glu1745Gly)
c.5390A>G (p.Glu1797Gly)
12g.51806843A>TCA384885522SCN8Ac.5357A>T (p.Glu1786Val)
c.3421A>T
c.5234A>T (p.Glu1745Val)
c.5390A>T (p.Glu1797Val)
12g.51806844G>ACA480062107SCN8Ac.5358G>A (p.Glu1786=)
c.3422G>A
c.5235G>A (p.Glu1745=)
c.5391G>A (p.Glu1797=)
12g.51806844G>CCA384885524SCN8Ac.5358G>C (p.Glu1786Asp)
c.3422G>C
c.5235G>C (p.Glu1745Asp)
c.5391G>C (p.Glu1797Asp)
12g.51806844G>TCA384885526SCN8Ac.5358G>T (p.Glu1786Asp)
c.3422G>T
c.5235G>T (p.Glu1745Asp)
c.5391G>T (p.Glu1797Asp)
12g.51806845A>CCA384885532SCN8Ac.5359A>C (p.Thr1787Pro)
c.3423A>C
c.5236A>C (p.Thr1746Pro)
c.5392A>C (p.Thr1798Pro)
12g.51806845A>GCA384885528SCN8Ac.5359A>G (p.Thr1787Ala)
c.3423A>G
c.5236A>G (p.Thr1746Ala)
c.5392A>G (p.Thr1798Ala)
12g.51806845A>TCA384885530SCN8Ac.5359A>T (p.Thr1787Ser)
c.3423A>T
c.5236A>T (p.Thr1746Ser)
c.5392A>T (p.Thr1798Ser)
12g.51806846C>ACA384885535SCN8Ac.5360C>A (p.Thr1787Asn)
c.3424C>A
c.5237C>A (p.Thr1746Asn)
c.5393C>A (p.Thr1798Asn)
 ClinVar dbSNP
12g.51806846C=CA2036193862SCN8Ac.5360C= (p.Thr1787=)
c.3424C=
c.5237C= (p.Thr1746=)
c.5393C= (p.Thr1798=)
12g.51806846C>GCA384885537SCN8Ac.5360C>G (p.Thr1787Ser)
c.3424C>G
c.5237C>G (p.Thr1746Ser)
c.5393C>G (p.Thr1798Ser)
12g.51806846C>TCA384885538SCN8Ac.5360C>T (p.Thr1787Ile)
c.3424C>T
c.5237C>T (p.Thr1746Ile)
c.5393C>T (p.Thr1798Ile)
12g.51806847C>ACA480062119SCN8Ac.5361C>A (p.Thr1787=)
c.3425C>A
c.5238C>A (p.Thr1746=)
c.5394C>A (p.Thr1798=)
 gnomAD v4
12g.51806847C>GCA480062120SCN8Ac.5361C>G (p.Thr1787=)
c.3425C>G
c.5238C>G (p.Thr1746=)
c.5394C>G (p.Thr1798=)
12g.51806847C>TCA480062122SCN8Ac.5361C>T (p.Thr1787=)
c.3425C>T
c.5238C>T (p.Thr1746=)
c.5394C>T (p.Thr1798=)
 COSMIC COSMIC
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)

Number of alleles fetched