Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
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)
12g.51806870T>CCA384885740SCN8Ac.5384T>C (p.Phe1795Ser)
c.3448T>C
c.5261T>C (p.Phe1754Ser)
c.5417T>C (p.Phe1806Ser)
12g.51806870T>GCA384885743SCN8Ac.5384T>G (p.Phe1795Cys)
c.3448T>G
c.5261T>G (p.Phe1754Cys)
c.5417T>G (p.Phe1806Cys)
12g.51806871C>ACA384885746SCN8Ac.5385C>A (p.Phe1795Leu)
c.3449C>A
c.5262C>A (p.Phe1754Leu)
c.5418C>A (p.Phe1806Leu)
 ClinVar dbSNP
12g.51806871C=CA2036193930SCN8Ac.5385C= (p.Phe1795=)
c.3449C=
c.5262C= (p.Phe1754=)
c.5418C= (p.Phe1806=)
12g.51806871C>GCA384885756SCN8Ac.5385C>G (p.Phe1795Leu)
c.3449C>G
c.5262C>G (p.Phe1754Leu)
c.5418C>G (p.Phe1806Leu)
12g.51806871C>TCA6571913SCN8Ac.5385C>T (p.Phe1795=)
c.3449C>T
c.5262C>T (p.Phe1754=)
c.5418C>T (p.Phe1806=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51806872G>ACA384885774SCN8Ac.5386G>A (p.Asp1796Asn)
c.3450G>A
c.5263G>A (p.Asp1755Asn)
c.5419G>A (p.Asp1807Asn)
 ClinVar gnomAD v4
12g.51806872G>CCA384885766SCN8Ac.5386G>C (p.Asp1796His)
c.3450G>C
c.5263G>C (p.Asp1755His)
c.5419G>C (p.Asp1807His)
12g.51806872G>TCA384885771SCN8Ac.5386G>T (p.Asp1796Tyr)
c.3450G>T
c.5263G>T (p.Asp1755Tyr)
c.5419G>T (p.Asp1807Tyr)
12g.51806873A>CCA384885778SCN8Ac.5387A>C (p.Asp1796Ala)
c.3451A>C
c.5264A>C (p.Asp1755Ala)
c.5420A>C (p.Asp1807Ala)
12g.51806873A>GCA384885788SCN8Ac.5387A>G (p.Asp1796Gly)
c.3451A>G
c.5264A>G (p.Asp1755Gly)
c.5420A>G (p.Asp1807Gly)
12g.51806873A>TCA384885787SCN8Ac.5387A>T (p.Asp1796Val)
c.3451A>T
c.5264A>T (p.Asp1755Val)
c.5420A>T (p.Asp1807Val)
12g.51806874C>ACA384885790SCN8Ac.5388C>A (p.Asp1796Glu)
c.3452C>A
c.5265C>A (p.Asp1755Glu)
c.5421C>A (p.Asp1807Glu)
12g.51806874C>GCA384885791SCN8Ac.5388C>G (p.Asp1796Glu)
c.3452C>G
c.5265C>G (p.Asp1755Glu)
c.5421C>G (p.Asp1807Glu)
12g.51806874C>TCA480062209SCN8Ac.5388C>T (p.Asp1796=)
c.3452C>T
c.5265C>T (p.Asp1755=)
c.5421C>T (p.Asp1807=)
 gnomAD v4
12g.51806875C>ACA384885798SCN8Ac.5389C>A (p.Pro1797Thr)
c.3453C>A
c.5266C>A (p.Pro1756Thr)
c.5422C>A (p.Pro1808Thr)
12g.51806875C=CA2036193941SCN8Ac.5389C= (p.Pro1797=)
c.3453C=
c.5266C= (p.Pro1756=)
c.5422C= (p.Pro1808=)
12g.51806875C>GCA384885801SCN8Ac.5389C>G (p.Pro1797Ala)
c.3453C>G
c.5266C>G (p.Pro1756Ala)
c.5422C>G (p.Pro1808Ala)
12g.51806875C>TCA6571914SCN8Ac.5389C>T (p.Pro1797Ser)
c.3453C>T
c.5266C>T (p.Pro1756Ser)
c.5422C>T (p.Pro1808Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806876C>ACA384885809SCN8Ac.5390C>A (p.Pro1797His)
c.3454C>A
c.5267C>A (p.Pro1756His)
c.5423C>A (p.Pro1808His)
12g.51806876C>GCA384885811SCN8Ac.5390C>G (p.Pro1797Arg)
c.3454C>G
c.5267C>G (p.Pro1756Arg)
c.5423C>G (p.Pro1808Arg)
12g.51806876C>TCA384885813SCN8Ac.5390C>T (p.Pro1797Leu)
c.3454C>T
c.5267C>T (p.Pro1756Leu)
c.5423C>T (p.Pro1808Leu)
12g.51806877C>ACA480062219SCN8Ac.5391C>A (p.Pro1797=)
c.3455C>A
c.5268C>A (p.Pro1756=)
c.5424C>A (p.Pro1808=)
12g.51806877C=CA2036193944SCN8Ac.5391C= (p.Pro1797=)
c.3455C=
c.5268C= (p.Pro1756=)
c.5424C= (p.Pro1808=)
12g.51806877C>GCA480062217SCN8Ac.5391C>G (p.Pro1797=)
c.3455C>G
c.5268C>G (p.Pro1756=)
c.5424C>G (p.Pro1808=)
12g.51806877C>TCA6571915SCN8Ac.5391C>T (p.Pro1797=)
c.3455C>T
c.5268C>T (p.Pro1756=)
c.5424C>T (p.Pro1808=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806878G>ACA384885823SCN8Ac.5392G>A (p.Asp1798Asn)
c.3456G>A
c.5269G>A (p.Asp1757Asn)
c.5425G>A (p.Asp1809Asn)
 ClinVar dbSNP gnomAD v4
12g.51806878G>CCA384885825SCN8Ac.5392G>C (p.Asp1798His)
c.3456G>C
c.5269G>C (p.Asp1757His)
c.5425G>C (p.Asp1809His)
12g.51806878G>TCA384885833SCN8Ac.5392G>T (p.Asp1798Tyr)
c.3456G>T
c.5269G>T (p.Asp1757Tyr)
c.5425G>T (p.Asp1809Tyr)
12g.51806879A>CCA384885840SCN8Ac.5393A>C (p.Asp1798Ala)
c.3457A>C
c.5270A>C (p.Asp1757Ala)
c.5426A>C (p.Asp1809Ala)
12g.51806879A>GCA384885839SCN8Ac.5393A>G (p.Asp1798Gly)
c.3457A>G
c.5270A>G (p.Asp1757Gly)
c.5426A>G (p.Asp1809Gly)
12g.51806879A>TCA384885836SCN8Ac.5393A>T (p.Asp1798Val)
c.3457A>T
c.5270A>T (p.Asp1757Val)
c.5426A>T (p.Asp1809Val)
12g.51806880T>ACA384885842SCN8Ac.5394T>A (p.Asp1798Glu)
c.3458T>A
c.5271T>A (p.Asp1757Glu)
c.5427T>A (p.Asp1809Glu)
12g.51806880T>CCA480062226SCN8Ac.5394T>C (p.Asp1798=)
c.3458T>C
c.5271T>C (p.Asp1757=)
c.5427T>C (p.Asp1809=)
 gnomAD v4
12g.51806880T>GCA384885844SCN8Ac.5394T>G (p.Asp1798Glu)
c.3458T>G
c.5271T>G (p.Asp1757Glu)
c.5427T>G (p.Asp1809Glu)
12g.51806881G>ACA384885847SCN8Ac.5395G>A (p.Ala1799Thr)
c.3459G>A
c.5272G>A (p.Ala1758Thr)
c.5428G>A (p.Ala1810Thr)
12g.51806881G>CCA384885849SCN8Ac.5395G>C (p.Ala1799Pro)
c.3459G>C
c.5272G>C (p.Ala1758Pro)
c.5428G>C (p.Ala1810Pro)
12g.51806881G>TCA384885851SCN8Ac.5395G>T (p.Ala1799Ser)
c.3459G>T
c.5272G>T (p.Ala1758Ser)
c.5428G>T (p.Ala1810Ser)
12g.51806882C>ACA384885853SCN8Ac.5396C>A (p.Ala1799Asp)
c.3460C>A
c.5273C>A (p.Ala1758Asp)
c.5429C>A (p.Ala1810Asp)
12g.51806882C>GCA384885855SCN8Ac.5396C>G (p.Ala1799Gly)
c.3460C>G
c.5273C>G (p.Ala1758Gly)
c.5429C>G (p.Ala1810Gly)
12g.51806882C>TCA384885856SCN8Ac.5396C>T (p.Ala1799Val)
c.3460C>T
c.5273C>T (p.Ala1758Val)
c.5429C>T (p.Ala1810Val)
12g.51806883C>ACA480062231SCN8Ac.5397C>A (p.Ala1799=)
c.3461C>A
c.5274C>A (p.Ala1758=)
c.5430C>A (p.Ala1810=)
12g.51806883C=CA2036193947SCN8Ac.5397C= (p.Ala1799=)
c.3461C=
c.5274C= (p.Ala1758=)
c.5430C= (p.Ala1810=)
12g.51806883C>GCA480062233SCN8Ac.5397C>G (p.Ala1799=)
c.3461C>G
c.5274C>G (p.Ala1758=)
c.5430C>G (p.Ala1810=)
12g.51806883C>TCA236327625SCN8Ac.5397C>T (p.Ala1799=)
c.3461C>T
c.5274C>T (p.Ala1758=)
c.5430C>T (p.Ala1810=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806884A>CCA384885860SCN8Ac.5398A>C (p.Thr1800Pro)
c.3462A>C
c.5275A>C (p.Thr1759Pro)
c.5431A>C (p.Thr1811Pro)
12g.51806884A>GCA384885862SCN8Ac.5398A>G (p.Thr1800Ala)
c.3462A>G
c.5275A>G (p.Thr1759Ala)
c.5431A>G (p.Thr1811Ala)
12g.51806884A>TCA384885863SCN8Ac.5398A>T (p.Thr1800Ser)
c.3462A>T
c.5275A>T (p.Thr1759Ser)
c.5431A>T (p.Thr1811Ser)
12g.51806885C>ACA384885869SCN8Ac.5399C>A (p.Thr1800Asn)
c.3463C>A
c.5276C>A (p.Thr1759Asn)
c.5432C>A (p.Thr1811Asn)
12g.51806885C>GCA384885871SCN8Ac.5399C>G (p.Thr1800Ser)
c.3463C>G
c.5276C>G (p.Thr1759Ser)
c.5432C>G (p.Thr1811Ser)
12g.51806885C>TCA384885867SCN8Ac.5399C>T (p.Thr1800Ile)
c.3463C>T
c.5276C>T (p.Thr1759Ile)
c.5432C>T (p.Thr1811Ile)
12g.51806886C>ACA480062238SCN8Ac.5400C>A (p.Thr1800=)
c.3464C>A
c.5277C>A (p.Thr1759=)
c.5433C>A (p.Thr1811=)
12g.51806886C>GCA480062240SCN8Ac.5400C>G (p.Thr1800=)
c.3464C>G
c.5277C>G (p.Thr1759=)
c.5433C>G (p.Thr1811=)
12g.51806886C>TCA480062242SCN8Ac.5400C>T (p.Thr1800=)
c.3464C>T
c.5277C>T (p.Thr1759=)
c.5433C>T (p.Thr1811=)
12g.51806887C>ACA384885873SCN8Ac.5401C>A (p.Gln1801Lys)
c.3465C>A
c.5278C>A (p.Gln1760Lys)
c.5434C>A (p.Gln1812Lys)
12g.51806887C=CA2036193952SCN8Ac.5401C= (p.Gln1801=)
c.3465C=
c.5278C= (p.Gln1760=)
c.5434C= (p.Gln1812=)
12g.51806887C>GCA10586300SCN8Ac.5401C>G (p.Gln1801Glu)
c.3465C>G
c.5278C>G (p.Gln1760Glu)
c.5434C>G (p.Gln1812Glu)
 ClinVar dbSNP
12g.51806887C>TCA384885875SCN8Ac.5401C>T (p.Gln1801Ter)
c.3465C>T
c.5278C>T (p.Gln1760Ter)
c.5434C>T (p.Gln1812Ter)
12g.51806888A>CCA384885877SCN8Ac.5402A>C (p.Gln1801Pro)
c.3466A>C
c.5279A>C (p.Gln1760Pro)
c.5435A>C (p.Gln1812Pro)
12g.51806888A>GCA384885879SCN8Ac.5402A>G (p.Gln1801Arg)
c.3466A>G
c.5279A>G (p.Gln1760Arg)
c.5435A>G (p.Gln1812Arg)
12g.51806888A>TCA384885881SCN8Ac.5402A>T (p.Gln1801Leu)
c.3466A>T
c.5279A>T (p.Gln1760Leu)
c.5435A>T (p.Gln1812Leu)
12g.51806889G>ACA480062247SCN8Ac.5403G>A (p.Gln1801=)
c.3467G>A
c.5280G>A (p.Gln1760=)
c.5436G>A (p.Gln1812=)
 ClinVar dbSNP
12g.51806889G>CCA384885885SCN8Ac.5403G>C (p.Gln1801His)
c.3467G>C
c.5280G>C (p.Gln1760His)
c.5436G>C (p.Gln1812His)
12g.51806889G=CA2036193961SCN8Ac.5403G= (p.Gln1801=)
c.3467G=
c.5280G= (p.Gln1760=)
c.5436G= (p.Gln1812=)
12g.51806889G>TCA384885888SCN8Ac.5403G>T (p.Gln1801His)
c.3467G>T
c.5280G>T (p.Gln1760His)
c.5436G>T (p.Gln1812His)
12g.51806890T>ACA384885892SCN8Ac.5404T>A (p.Phe1802Ile)
c.3468T>A
c.5281T>A (p.Phe1761Ile)
c.5437T>A (p.Phe1813Ile)
12g.51806890T>CCA384885895SCN8Ac.5404T>C (p.Phe1802Leu)
c.3468T>C
c.5281T>C (p.Phe1761Leu)
c.5437T>C (p.Phe1813Leu)
12g.51806890T>GCA384885898SCN8Ac.5404T>G (p.Phe1802Val)
c.3468T>G
c.5281T>G (p.Phe1761Val)
c.5437T>G (p.Phe1813Val)
12g.51806891T>ACA384885903SCN8Ac.5405T>A (p.Phe1802Tyr)
c.3469T>A
c.5282T>A (p.Phe1761Tyr)
c.5438T>A (p.Phe1813Tyr)
12g.51806891T>CCA384885906SCN8Ac.5405T>C (p.Phe1802Ser)
c.3469T>C
c.5282T>C (p.Phe1761Ser)
c.5438T>C (p.Phe1813Ser)
12g.51806891T>GCA384885909SCN8Ac.5405T>G (p.Phe1802Cys)
c.3469T>G
c.5282T>G (p.Phe1761Cys)
c.5438T>G (p.Phe1813Cys)
12g.51806892C>ACA384885913SCN8Ac.5406C>A (p.Phe1802Leu)
c.3470C>A
c.5283C>A (p.Phe1761Leu)
c.5439C>A (p.Phe1813Leu)
12g.51806892C>GCA384885916SCN8Ac.5406C>G (p.Phe1802Leu)
c.3470C>G
c.5283C>G (p.Phe1761Leu)
c.5439C>G (p.Phe1813Leu)
12g.51806892C>TCA480062262SCN8Ac.5406C>T (p.Phe1802=)
c.3470C>T
c.5283C>T (p.Phe1761=)
c.5439C>T (p.Phe1813=)
12g.51806893A>CCA384885921SCN8Ac.5407A>C (p.Ile1803Leu)
c.3471A>C
c.5284A>C (p.Ile1762Leu)
c.5440A>C (p.Ile1814Leu)
12g.51806893A>GCA384885924SCN8Ac.5407A>G (p.Ile1803Val)
c.3471A>G
c.5284A>G (p.Ile1762Val)
c.5440A>G (p.Ile1814Val)
 gnomAD v4
12g.51806893A>TCA384885927SCN8Ac.5407A>T (p.Ile1803Phe)
c.3471A>T
c.5284A>T (p.Ile1762Phe)
c.5440A>T (p.Ile1814Phe)
12g.51806894T>ACA384885931SCN8Ac.5408T>A (p.Ile1803Asn)
c.3472T>A
c.5285T>A (p.Ile1762Asn)
c.5441T>A (p.Ile1814Asn)
12g.51806894T>CCA384885934SCN8Ac.5408T>C (p.Ile1803Thr)
c.3472T>C
c.5285T>C (p.Ile1762Thr)
c.5441T>C (p.Ile1814Thr)
12g.51806894T>GCA384885937SCN8Ac.5408T>G (p.Ile1803Ser)
c.3472T>G
c.5285T>G (p.Ile1762Ser)
c.5441T>G (p.Ile1814Ser)
12g.51806895T>ACA480062269SCN8Ac.5409T>A (p.Ile1803=)
c.3473T>A
c.5286T>A (p.Ile1762=)
c.5442T>A (p.Ile1814=)
12g.51806895T>CCA480062270SCN8Ac.5409T>C (p.Ile1803=)
c.3473T>C
c.5286T>C (p.Ile1762=)
c.5442T>C (p.Ile1814=)
12g.51806895T>GCA384885941SCN8Ac.5409T>G (p.Ile1803Met)
c.3473T>G
c.5286T>G (p.Ile1762Met)
c.5442T>G (p.Ile1814Met)
12g.51806896G>ACA384885944SCN8Ac.5410G>A (p.Glu1804Lys)
c.3474G>A
c.5287G>A (p.Glu1763Lys)
c.5443G>A (p.Glu1815Lys)
12g.51806896G>CCA384885946SCN8Ac.5410G>C (p.Glu1804Gln)
c.3474G>C
c.5287G>C (p.Glu1763Gln)
c.5443G>C (p.Glu1815Gln)
12g.51806896G=CA2036193969SCN8Ac.5410G= (p.Glu1804=)
c.3474G=
c.5287G= (p.Glu1763=)
c.5443G= (p.Glu1815=)
12g.51806896G>TCA384885949SCN8Ac.5410G>T (p.Glu1804Ter)
c.3474G>T
c.5287G>T (p.Glu1763Ter)
c.5443G>T (p.Glu1815Ter)
 dbSNP
12g.51806897A>CCA384885965SCN8Ac.5411A>C (p.Glu1804Ala)
c.3475A>C
c.5288A>C (p.Glu1763Ala)
c.5444A>C (p.Glu1815Ala)
12g.51806897A>GCA384885968SCN8Ac.5411A>G (p.Glu1804Gly)
c.3475A>G
c.5288A>G (p.Glu1763Gly)
c.5444A>G (p.Glu1815Gly)
12g.51806897A>TCA384885970SCN8Ac.5411A>T (p.Glu1804Val)
c.3475A>T
c.5288A>T (p.Glu1763Val)
c.5444A>T (p.Glu1815Val)
12g.51806898G>ACA480062277SCN8Ac.5412G>A (p.Glu1804=)
c.3476G>A
c.5289G>A (p.Glu1763=)
c.5445G>A (p.Glu1815=)
 ClinVar
12g.51806898G>CCA236327630SCN8Ac.5412G>C (p.Glu1804Asp)
c.3476G>C
c.5289G>C (p.Glu1763Asp)
c.5445G>C (p.Glu1815Asp)
 ClinVar dbSNP gnomAD v4
12g.51806898G=CA2036193974SCN8Ac.5412G= (p.Glu1804=)
c.3476G=
c.5289G= (p.Glu1763=)
c.5445G= (p.Glu1815=)
12g.51806898G>TCA384885973SCN8Ac.5412G>T (p.Glu1804Asp)
c.3476G>T
c.5289G>T (p.Glu1763Asp)
c.5445G>T (p.Glu1815Asp)
12g.51806899T>ACA384885979SCN8Ac.5413T>A (p.Tyr1805Asn)
c.3477T>A
c.5290T>A (p.Tyr1764Asn)
c.5446T>A (p.Tyr1816Asn)
 dbSNP gnomAD v3 gnomAD v4
12g.51806899T>CCA384885985SCN8Ac.5413T>C (p.Tyr1805His)
c.3477T>C
c.5290T>C (p.Tyr1764His)
c.5446T>C (p.Tyr1816His)
12g.51806899T>GCA384885982SCN8Ac.5413T>G (p.Tyr1805Asp)
c.3477T>G
c.5290T>G (p.Tyr1764Asp)
c.5446T>G (p.Tyr1816Asp)
12g.51806899T=CA2036193980SCN8Ac.5413T= (p.Tyr1805=)
c.3477T=
c.5290T= (p.Tyr1764=)
c.5446T= (p.Tyr1816=)
12g.51806900A>CCA384885989SCN8Ac.5414A>C (p.Tyr1805Ser)
c.3478A>C
c.5291A>C (p.Tyr1764Ser)
c.5447A>C (p.Tyr1816Ser)
12g.51806900A>GCA384885992SCN8Ac.5414A>G (p.Tyr1805Cys)
c.3478A>G
c.5291A>G (p.Tyr1764Cys)
c.5447A>G (p.Tyr1816Cys)
12g.51806900A>TCA384885994SCN8Ac.5414A>T (p.Tyr1805Phe)
c.3478A>T
c.5291A>T (p.Tyr1764Phe)
c.5447A>T (p.Tyr1816Phe)
12g.51806901C>ACA384885997SCN8Ac.5415C>A (p.Tyr1805Ter)
c.3479C>A
c.5292C>A (p.Tyr1764Ter)
c.5448C>A (p.Tyr1816Ter)
12g.51806901C>GCA384885998SCN8Ac.5415C>G (p.Tyr1805Ter)
c.3479C>G
c.5292C>G (p.Tyr1764Ter)
c.5448C>G (p.Tyr1816Ter)
12g.51806901C>TCA480062284SCN8Ac.5415C>T (p.Tyr1805=)
c.3479C>T
c.5292C>T (p.Tyr1764=)
c.5448C>T (p.Tyr1816=)
12g.51806902T>ACA384886001SCN8Ac.5416T>A (p.Cys1806Ser)
c.3480T>A
c.5293T>A (p.Cys1765Ser)
c.5449T>A (p.Cys1817Ser)
12g.51806902T>CCA384886002SCN8Ac.5416T>C (p.Cys1806Arg)
c.3480T>C
c.5293T>C (p.Cys1765Arg)
c.5449T>C (p.Cys1817Arg)
 ClinVar dbSNP gnomAD v4
12g.51806902T>GCA384886004SCN8Ac.5416T>G (p.Cys1806Gly)
c.3480T>G
c.5293T>G (p.Cys1765Gly)
c.5449T>G (p.Cys1817Gly)
12g.51806902T=CA2036193986SCN8Ac.5416T= (p.Cys1806=)
c.3480T=
c.5293T= (p.Cys1765=)
c.5449T= (p.Cys1817=)
12g.51806903G>ACA318296SCN8Ac.5417G>A (p.Cys1806Tyr)
c.3481G>A
c.5294G>A (p.Cys1765Tyr)
c.5450G>A (p.Cys1817Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51806903G>CCA384886012SCN8Ac.5417G>C (p.Cys1806Ser)
c.3481G>C
c.5294G>C (p.Cys1765Ser)
c.5450G>C (p.Cys1817Ser)
 gnomAD v4
12g.51806903G=CA2036193994SCN8Ac.5417G= (p.Cys1806=)
c.3481G=
c.5294G= (p.Cys1765=)
c.5450G= (p.Cys1817=)
12g.51806903G>TCA384886021SCN8Ac.5417G>T (p.Cys1806Phe)
c.3481G>T
c.5294G>T (p.Cys1765Phe)
c.5450G>T (p.Cys1817Phe)
 gnomAD v4
12g.51806904T>ACA384886025SCN8Ac.5418T>A (p.Cys1806Ter)
c.3482T>A
c.5295T>A (p.Cys1765Ter)
c.5451T>A (p.Cys1817Ter)
 dbSNP
12g.51806904T>CCA480062290SCN8Ac.5418T>C (p.Cys1806=)
c.3482T>C
c.5295T>C (p.Cys1765=)
c.5451T>C (p.Cys1817=)
12g.51806904T>GCA384886027SCN8Ac.5418T>G (p.Cys1806Trp)
c.3482T>G
c.5295T>G (p.Cys1765Trp)
c.5451T>G (p.Cys1817Trp)
12g.51806904T=CA2036194001SCN8Ac.5418T= (p.Cys1806=)
c.3482T=
c.5295T= (p.Cys1765=)
c.5451T= (p.Cys1817=)
12g.51806905A=CA2036194007SCN8Ac.5419A= (p.Lys1807=)
c.3483A=
c.5296A= (p.Lys1766=)
c.5452A= (p.Lys1818=)
12g.51806905A>CCA384886032SCN8Ac.5419A>C (p.Lys1807Gln)
c.3483A>C
c.5296A>C (p.Lys1766Gln)
c.5452A>C (p.Lys1818Gln)
12g.51806905A>GCA384886036SCN8Ac.5419A>G (p.Lys1807Glu)
c.3483A>G
c.5296A>G (p.Lys1766Glu)
c.5452A>G (p.Lys1818Glu)
12g.51806905A>TCA384886034SCN8Ac.5419A>T (p.Lys1807Ter)
c.3483A>T
c.5296A>T (p.Lys1766Ter)
c.5452A>T (p.Lys1818Ter)
 dbSNP
12g.51806906A=CA2036194014SCN8Ac.5420A= (p.Lys1807=)
c.3484A=
c.5297A= (p.Lys1766=)
c.5453A= (p.Lys1818=)
12g.51806906A>CCA384886041SCN8Ac.5420A>C (p.Lys1807Thr)
c.3484A>C
c.5297A>C (p.Lys1766Thr)
c.5453A>C (p.Lys1818Thr)
12g.51806906A>GCA384886044SCN8Ac.5420A>G (p.Lys1807Arg)
c.3484A>G
c.5297A>G (p.Lys1766Arg)
c.5453A>G (p.Lys1818Arg)
 dbSNP gnomAD v4
12g.51806906A>TCA384886047SCN8Ac.5420A>T (p.Lys1807Met)
c.3484A>T
c.5297A>T (p.Lys1766Met)
c.5453A>T (p.Lys1818Met)
12g.51806907G>ACA480062296SCN8Ac.5421G>A (p.Lys1807=)
c.3485G>A
c.5298G>A (p.Lys1766=)
c.5454G>A (p.Lys1818=)
 ClinVar dbSNP gnomAD v4
12g.51806907G>CCA384886051SCN8Ac.5421G>C (p.Lys1807Asn)
c.3485G>C
c.5298G>C (p.Lys1766Asn)
c.5454G>C (p.Lys1818Asn)
12g.51806907G=CA2036194018SCN8Ac.5421G= (p.Lys1807=)
c.3485G=
c.5298G= (p.Lys1766=)
c.5454G= (p.Lys1818=)
12g.51806907G>TCA384886063SCN8Ac.5421G>T (p.Lys1807Asn)
c.3485G>T
c.5298G>T (p.Lys1766Asn)
c.5454G>T (p.Lys1818Asn)
12g.51806908C>ACA384886068SCN8Ac.5422C>A (p.Leu1808Met)
c.3486C>A
c.5299C>A (p.Leu1767Met)
c.5455C>A (p.Leu1819Met)
12g.51806908C>GCA384886070SCN8Ac.5422C>G (p.Leu1808Val)
c.3486C>G
c.5299C>G (p.Leu1767Val)
c.5455C>G (p.Leu1819Val)
12g.51806908C>TCA480062300SCN8Ac.5422C>T (p.Leu1808=)
c.3486C>T
c.5299C>T (p.Leu1767=)
c.5455C>T (p.Leu1819=)
 gnomAD v4
12g.51806909T>ACA384886075SCN8Ac.5423T>A (p.Leu1808Gln)
c.3487T>A
c.5300T>A (p.Leu1767Gln)
c.5456T>A (p.Leu1819Gln)
12g.51806909T>CCA384886076SCN8Ac.5423T>C (p.Leu1808Pro)
c.3487T>C
c.5300T>C (p.Leu1767Pro)
c.5456T>C (p.Leu1819Pro)
12g.51806909T>GCA384886077SCN8Ac.5423T>G (p.Leu1808Arg)
c.3487T>G
c.5300T>G (p.Leu1767Arg)
c.5456T>G (p.Leu1819Arg)
12g.51806910G>ACA480062303SCN8Ac.5424G>A (p.Leu1808=)
c.3488G>A
c.5301G>A (p.Leu1767=)
c.5457G>A (p.Leu1819=)
 gnomAD v4
12g.51806910G>CCA480062305SCN8Ac.5424G>C (p.Leu1808=)
c.3488G>C
c.5301G>C (p.Leu1767=)
c.5457G>C (p.Leu1819=)
12g.51806910G>TCA480062307SCN8Ac.5424G>T (p.Leu1808=)
c.3488G>T
c.5301G>T (p.Leu1767=)
c.5457G>T (p.Leu1819=)
12g.51806911G>ACA384886081SCN8Ac.5425G>A (p.Ala1809Thr)
c.3489G>A
c.5302G>A (p.Ala1768Thr)
c.5458G>A (p.Ala1820Thr)
12g.51806911G>CCA384886079SCN8Ac.5425G>C (p.Ala1809Pro)
c.3489G>C
c.5302G>C (p.Ala1768Pro)
c.5458G>C (p.Ala1820Pro)
 dbSNP
12g.51806911G=CA2036194022SCN8Ac.5425G= (p.Ala1809=)
c.3489G=
c.5302G= (p.Ala1768=)
c.5458G= (p.Ala1820=)
12g.51806911G>TCA384886078SCN8Ac.5425G>T (p.Ala1809Ser)
c.3489G>T
c.5302G>T (p.Ala1768Ser)
c.5458G>T (p.Ala1820Ser)
12g.51806912C>ACA384886084SCN8Ac.5426C>A (p.Ala1809Glu)
c.3490C>A
c.5303C>A (p.Ala1768Glu)
c.5459C>A (p.Ala1820Glu)
 gnomAD v4
12g.51806912C>GCA384886086SCN8Ac.5426C>G (p.Ala1809Gly)
c.3490C>G
c.5303C>G (p.Ala1768Gly)
c.5459C>G (p.Ala1820Gly)
12g.51806912C>TCA384886089SCN8Ac.5426C>T (p.Ala1809Val)
c.3490C>T
c.5303C>T (p.Ala1768Val)
c.5459C>T (p.Ala1820Val)
12g.51806913A>CCA480062312SCN8Ac.5427A>C (p.Ala1809=)
c.3491A>C
c.5304A>C (p.Ala1768=)
c.5460A>C (p.Ala1820=)
12g.51806913A>GCA480062313SCN8Ac.5427A>G (p.Ala1809=)
c.3491A>G
c.5304A>G (p.Ala1768=)
c.5460A>G (p.Ala1820=)
12g.51806913A>TCA480062315SCN8Ac.5427A>T (p.Ala1809=)
c.3491A>T
c.5304A>T (p.Ala1768=)
c.5460A>T (p.Ala1820=)
12g.51806914G>ACA384886092SCN8Ac.5428G>A (p.Asp1810Asn)
c.3492G>A
c.5305G>A (p.Asp1769Asn)
c.5461G>A (p.Asp1821Asn)
12g.51806914G>CCA384886095SCN8Ac.5428G>C (p.Asp1810His)
c.3492G>C
c.5305G>C (p.Asp1769His)
c.5461G>C (p.Asp1821His)
 ClinVar
12g.51806914G>TCA384886097SCN8Ac.5428G>T (p.Asp1810Tyr)
c.3492G>T
c.5305G>T (p.Asp1769Tyr)
c.5461G>T (p.Asp1821Tyr)
12g.51806915A>CCA384886105SCN8Ac.5429A>C (p.Asp1810Ala)
c.3493A>C
c.5306A>C (p.Asp1769Ala)
c.5462A>C (p.Asp1821Ala)
12g.51806915A>GCA384886101SCN8Ac.5429A>G (p.Asp1810Gly)
c.3493A>G
c.5306A>G (p.Asp1769Gly)
c.5462A>G (p.Asp1821Gly)
12g.51806915A>TCA384886104SCN8Ac.5429A>T (p.Asp1810Val)
c.3493A>T
c.5306A>T (p.Asp1769Val)
c.5462A>T (p.Asp1821Val)
12g.51806916C>ACA384886109SCN8Ac.5430C>A (p.Asp1810Glu)
c.3494C>A
c.5307C>A (p.Asp1769Glu)
c.5463C>A (p.Asp1821Glu)
 ClinVar dbSNP gnomAD v4
12g.51806916C=CA2036194025SCN8Ac.5430C= (p.Asp1810=)
c.3494C=
c.5307C= (p.Asp1769=)
c.5463C= (p.Asp1821=)
12g.51806916C>GCA384886111SCN8Ac.5430C>G (p.Asp1810Glu)
c.3494C>G
c.5307C>G (p.Asp1769Glu)
c.5463C>G (p.Asp1821Glu)
 dbSNP gnomAD v2 gnomAD v4
12g.51806916C>TCA480062323SCN8Ac.5430C>T (p.Asp1810=)
c.3494C>T
c.5307C>T (p.Asp1769=)
c.5463C>T (p.Asp1821=)
12g.51806917T>ACA384886116SCN8Ac.5431T>A (p.Phe1811Ile)
c.3495T>A
c.5308T>A (p.Phe1770Ile)
c.5464T>A (p.Phe1822Ile)
12g.51806917T>CCA384886118SCN8Ac.5431T>C (p.Phe1811Leu)
c.3495T>C
c.5308T>C (p.Phe1770Leu)
c.5464T>C (p.Phe1822Leu)
12g.51806917T>GCA384886121SCN8Ac.5431T>G (p.Phe1811Val)
c.3495T>G
c.5308T>G (p.Phe1770Val)
c.5464T>G (p.Phe1822Val)
12g.51806918T>ACA384886122SCN8Ac.5432T>A (p.Phe1811Tyr)
c.3496T>A
c.5309T>A (p.Phe1770Tyr)
c.5465T>A (p.Phe1822Tyr)
12g.51806918T>CCA384886124SCN8Ac.5432T>C (p.Phe1811Ser)
c.3496T>C
c.5309T>C (p.Phe1770Ser)
c.5465T>C (p.Phe1822Ser)
12g.51806918T>GCA384886123SCN8Ac.5432T>G (p.Phe1811Cys)
c.3496T>G
c.5309T>G (p.Phe1770Cys)
c.5465T>G (p.Phe1822Cys)
12g.51806919T>ACA384886125SCN8Ac.5433T>A (p.Phe1811Leu)
c.3497T>A
c.5310T>A (p.Phe1770Leu)
c.5466T>A (p.Phe1822Leu)
12g.51806919T>CCA480062328SCN8Ac.5433T>C (p.Phe1811=)
c.3497T>C
c.5310T>C (p.Phe1770=)
c.5466T>C (p.Phe1822=)
12g.51806919T>GCA384886126SCN8Ac.5433T>G (p.Phe1811Leu)
c.3497T>G
c.5310T>G (p.Phe1770Leu)
c.5466T>G (p.Phe1822Leu)
12g.51806920G>ACA384886127SCN8Ac.5434G>A (p.Ala1812Thr)
c.3498G>A
c.5311G>A (p.Ala1771Thr)
c.5467G>A (p.Ala1823Thr)
12g.51806920G>CCA384886128SCN8Ac.5434G>C (p.Ala1812Pro)
c.3498G>C
c.5311G>C (p.Ala1771Pro)
c.5467G>C (p.Ala1823Pro)
12g.51806920G>TCA384886130SCN8Ac.5434G>T (p.Ala1812Ser)
c.3498G>T
c.5311G>T (p.Ala1771Ser)
c.5467G>T (p.Ala1823Ser)
12g.51806921C>ACA384886131SCN8Ac.5435C>A (p.Ala1812Glu)
c.3499C>A
c.5312C>A (p.Ala1771Glu)
c.5468C>A (p.Ala1823Glu)
12g.51806921C>GCA384886133SCN8Ac.5435C>G (p.Ala1812Gly)
c.3499C>G
c.5312C>G (p.Ala1771Gly)
c.5468C>G (p.Ala1823Gly)
12g.51806921C>TCA384886135SCN8Ac.5435C>T (p.Ala1812Val)
c.3499C>T
c.5312C>T (p.Ala1771Val)
c.5468C>T (p.Ala1823Val)
12g.51806922A>CCA480062330SCN8Ac.5436A>C (p.Ala1812=)
c.3500A>C
c.5313A>C (p.Ala1771=)
c.5469A>C (p.Ala1823=)
12g.51806922A>GCA480062331SCN8Ac.5436A>G (p.Ala1812=)
c.3500A>G
c.5313A>G (p.Ala1771=)
c.5469A>G (p.Ala1823=)
 gnomAD v4
12g.51806922A>TCA480062333SCN8Ac.5436A>T (p.Ala1812=)
c.3500A>T
c.5313A>T (p.Ala1771=)
c.5469A>T (p.Ala1823=)
12g.51806923G>ACA384886140SCN8Ac.5437G>A (p.Asp1813Asn)
c.3501G>A
c.5314G>A (p.Asp1772Asn)
c.5470G>A (p.Asp1824Asn)
 COSMIC COSMIC
12g.51806923G>CCA384886142SCN8Ac.5437G>C (p.Asp1813His)
c.3501G>C
c.5314G>C (p.Asp1772His)
c.5470G>C (p.Asp1824His)
12g.51806923G>TCA384886150SCN8Ac.5437G>T (p.Asp1813Tyr)
c.3501G>T
c.5314G>T (p.Asp1772Tyr)
c.5470G>T (p.Asp1824Tyr)
12g.51806924A>CCA384886154SCN8Ac.5438A>C (p.Asp1813Ala)
c.3502A>C
c.5315A>C (p.Asp1772Ala)
c.5471A>C (p.Asp1824Ala)
12g.51806924A>GCA384886159SCN8Ac.5438A>G (p.Asp1813Gly)
c.3502A>G
c.5315A>G (p.Asp1772Gly)
c.5471A>G (p.Asp1824Gly)
12g.51806924A>TCA384886156SCN8Ac.5438A>T (p.Asp1813Val)
c.3502A>T
c.5315A>T (p.Asp1772Val)
c.5471A>T (p.Asp1824Val)
12g.51806925T>ACA384886160SCN8Ac.5439T>A (p.Asp1813Glu)
c.3503T>A
c.5316T>A (p.Asp1772Glu)
c.5472T>A (p.Asp1824Glu)
12g.51806925T>CCA480062341SCN8Ac.5439T>C (p.Asp1813=)
c.3503T>C
c.5316T>C (p.Asp1772=)
c.5472T>C (p.Asp1824=)
12g.51806925T>GCA384886161SCN8Ac.5439T>G (p.Asp1813Glu)
c.3503T>G
c.5316T>G (p.Asp1772Glu)
c.5472T>G (p.Asp1824Glu)
12g.51806926G>ACA384886166SCN8Ac.5440G>A (p.Ala1814Thr)
c.3504G>A
c.5317G>A (p.Ala1773Thr)
c.5473G>A (p.Ala1825Thr)
12g.51806926G>CCA384886168SCN8Ac.5440G>C (p.Ala1814Pro)
c.3504G>C
c.5317G>C (p.Ala1773Pro)
c.5473G>C (p.Ala1825Pro)
12g.51806926G>TCA384886184SCN8Ac.5440G>T (p.Ala1814Ser)
c.3504G>T
c.5317G>T (p.Ala1773Ser)
c.5473G>T (p.Ala1825Ser)
12g.51806927C>ACA384886185SCN8Ac.5441C>A (p.Ala1814Asp)
c.3505C>A
c.5318C>A (p.Ala1773Asp)
c.5474C>A (p.Ala1825Asp)
12g.51806927C=CA2036194028SCN8Ac.5441C= (p.Ala1814=)
c.3505C=
c.5318C= (p.Ala1773=)
c.5474C= (p.Ala1825=)
12g.51806927C>GCA384886187SCN8Ac.5441C>G (p.Ala1814Gly)
c.3505C>G
c.5318C>G (p.Ala1773Gly)
c.5474C>G (p.Ala1825Gly)
 ClinVar dbSNP
12g.51806927C>TCA384886189SCN8Ac.5441C>T (p.Ala1814Val)
c.3505C>T
c.5318C>T (p.Ala1773Val)
c.5474C>T (p.Ala1825Val)
12g.51806928C>ACA480062348SCN8Ac.5442C>A (p.Ala1814=)
c.3506C>A
c.5319C>A (p.Ala1773=)
c.5475C>A (p.Ala1825=)
12g.51806928C>GCA480062349SCN8Ac.5442C>G (p.Ala1814=)
c.3506C>G
c.5319C>G (p.Ala1773=)
c.5475C>G (p.Ala1825=)
12g.51806928C>TCA480062350SCN8Ac.5442C>T (p.Ala1814=)
c.3506C>T
c.5319C>T (p.Ala1773=)
c.5475C>T (p.Ala1825=)
12g.51806929T>ACA384886192SCN8Ac.5443T>A (p.Leu1815Met)
c.3507T>A
c.5320T>A (p.Leu1774Met)
c.5476T>A (p.Leu1826Met)
12g.51806929T>CCA480062351SCN8Ac.5443T>C (p.Leu1815=)
c.3507T>C
c.5320T>C (p.Leu1774=)
c.5476T>C (p.Leu1826=)
12g.51806929T>GCA384886195SCN8Ac.5443T>G (p.Leu1815Val)
c.3507T>G
c.5320T>G (p.Leu1774Val)
c.5476T>G (p.Leu1826Val)
12g.51806930T>ACA384886197SCN8Ac.5444T>A (p.Leu1815Ter)
c.3508T>A
c.5321T>A (p.Leu1774Ter)
c.5477T>A (p.Leu1826Ter)
 dbSNP
12g.51806930T>CCA384886201SCN8Ac.5444T>C (p.Leu1815Ser)
c.3508T>C
c.5321T>C (p.Leu1774Ser)
c.5477T>C (p.Leu1826Ser)
12g.51806930T>GCA384886210SCN8Ac.5444T>G (p.Leu1815Trp)
c.3508T>G
c.5321T>G (p.Leu1774Trp)
c.5477T>G (p.Leu1826Trp)
12g.51806930T=CA2036194031SCN8Ac.5444T= (p.Leu1815=)
c.3508T=
c.5321T= (p.Leu1774=)
c.5477T= (p.Leu1826=)
12g.51806931G>ACA480062354SCN8Ac.5445G>A (p.Leu1815=)
c.3509G>A
c.5322G>A (p.Leu1774=)
c.5478G>A (p.Leu1826=)
 ClinVar dbSNP gnomAD v4
12g.51806931G>CCA384886214SCN8Ac.5445G>C (p.Leu1815Phe)
c.3509G>C
c.5322G>C (p.Leu1774Phe)
c.5478G>C (p.Leu1826Phe)
12g.51806931G>TCA384886224SCN8Ac.5445G>T (p.Leu1815Phe)
c.3509G>T
c.5322G>T (p.Leu1774Phe)
c.5478G>T (p.Leu1826Phe)
12g.51806932G>ACA384886234SCN8Ac.5446G>A (p.Glu1816Lys)
c.3510G>A
c.5323G>A (p.Glu1775Lys)
c.5479G>A (p.Glu1827Lys)
12g.51806932G>CCA384886229SCN8Ac.5446G>C (p.Glu1816Gln)
c.3510G>C
c.5323G>C (p.Glu1775Gln)
c.5479G>C (p.Glu1827Gln)
12g.51806932G=CA2036194033SCN8Ac.5446G= (p.Glu1816=)
c.3510G=
c.5323G= (p.Glu1775=)
c.5479G= (p.Glu1827=)
12g.51806932G>TCA384886232SCN8Ac.5446G>T (p.Glu1816Ter)
c.3510G>T
c.5323G>T (p.Glu1775Ter)
c.5479G>T (p.Glu1827Ter)
 dbSNP
12g.51806933A>CCA384886235SCN8Ac.5447A>C (p.Glu1816Ala)
c.3511A>C
c.5324A>C (p.Glu1775Ala)
c.5480A>C (p.Glu1827Ala)
12g.51806933A>GCA384886239SCN8Ac.5447A>G (p.Glu1816Gly)
c.3511A>G
c.5324A>G (p.Glu1775Gly)
c.5480A>G (p.Glu1827Gly)
12g.51806933A>TCA384886242SCN8Ac.5447A>T (p.Glu1816Val)
c.3511A>T
c.5324A>T (p.Glu1775Val)
c.5480A>T (p.Glu1827Val)
12g.51806934G>ACA480062361SCN8Ac.5448G>A (p.Glu1816=)
c.3512G>A
c.5325G>A (p.Glu1775=)
c.5481G>A (p.Glu1827=)
 gnomAD v4
12g.51806934G>CCA384886253SCN8Ac.5448G>C (p.Glu1816Asp)
c.3512G>C
c.5325G>C (p.Glu1775Asp)
c.5481G>C (p.Glu1827Asp)
12g.51806934G>TCA384886256SCN8Ac.5448G>T (p.Glu1816Asp)
c.3512G>T
c.5325G>T (p.Glu1775Asp)
c.5481G>T (p.Glu1827Asp)
12g.51806935C>ACA384886265SCN8Ac.5449C>A (p.His1817Asn)
c.3513C>A
c.5326C>A (p.His1776Asn)
c.5482C>A (p.His1828Asn)
12g.51806935C>GCA384886269SCN8Ac.5449C>G (p.His1817Asp)
c.3513C>G
c.5326C>G (p.His1776Asp)
c.5482C>G (p.His1828Asp)
12g.51806935C>TCA384886279SCN8Ac.5449C>T (p.His1817Tyr)
c.3513C>T
c.5326C>T (p.His1776Tyr)
c.5482C>T (p.His1828Tyr)
12g.51806936A>CCA384886282SCN8Ac.5450A>C (p.His1817Pro)
c.3514A>C
c.5327A>C (p.His1776Pro)
c.5483A>C (p.His1828Pro)
12g.51806936A>GCA384886283SCN8Ac.5450A>G (p.His1817Arg)
c.3514A>G
c.5327A>G (p.His1776Arg)
c.5483A>G (p.His1828Arg)
12g.51806936A>TCA384886284SCN8Ac.5450A>T (p.His1817Leu)
c.3514A>T
c.5327A>T (p.His1776Leu)
c.5483A>T (p.His1828Leu)
12g.51806937T>ACA384886287SCN8Ac.5451T>A (p.His1817Gln)
c.3515T>A
c.5328T>A (p.His1776Gln)
c.5484T>A (p.His1828Gln)
12g.51806937T>CCA480062371SCN8Ac.5451T>C (p.His1817=)
c.3515T>C
c.5328T>C (p.His1776=)
c.5484T>C (p.His1828=)
12g.51806937T>GCA384886289SCN8Ac.5451T>G (p.His1817Gln)
c.3515T>G
c.5328T>G (p.His1776Gln)
c.5484T>G (p.His1828Gln)
12g.51806938C>ACA384886309SCN8Ac.5452C>A (p.Pro1818Thr)
c.3516C>A
c.5329C>A (p.Pro1777Thr)
c.5485C>A (p.Pro1829Thr)
12g.51806938C>GCA384886301SCN8Ac.5452C>G (p.Pro1818Ala)
c.3516C>G
c.5329C>G (p.Pro1777Ala)
c.5485C>G (p.Pro1829Ala)
12g.51806938C>TCA384886307SCN8Ac.5452C>T (p.Pro1818Ser)
c.3516C>T
c.5329C>T (p.Pro1777Ser)
c.5485C>T (p.Pro1829Ser)
12g.51806939C>ACA384886317SCN8Ac.5453C>A (p.Pro1818His)
c.3517C>A
c.5330C>A (p.Pro1777His)
c.5486C>A (p.Pro1829His)
12g.51806939C=CA2036194039SCN8Ac.5453C= (p.Pro1818=)
c.3517C=
c.5330C= (p.Pro1777=)
c.5486C= (p.Pro1829=)
12g.51806939C>GCA384886319SCN8Ac.5453C>G (p.Pro1818Arg)
c.3517C>G
c.5330C>G (p.Pro1777Arg)
c.5486C>G (p.Pro1829Arg)
12g.51806939C>TCA384886324SCN8Ac.5453C>T (p.Pro1818Leu)
c.3517C>T
c.5330C>T (p.Pro1777Leu)
c.5486C>T (p.Pro1829Leu)
 dbSNP gnomAD v2
12g.51806940T>ACA480062383SCN8Ac.5454T>A (p.Pro1818=)
c.3518T>A
c.5331T>A (p.Pro1777=)
c.5487T>A (p.Pro1829=)
12g.51806940T>CCA480062381SCN8Ac.5454T>C (p.Pro1818=)
c.3518T>C
c.5331T>C (p.Pro1777=)
c.5487T>C (p.Pro1829=)
12g.51806940T>GCA480062379SCN8Ac.5454T>G (p.Pro1818=)
c.3518T>G
c.5331T>G (p.Pro1777=)
c.5487T>G (p.Pro1829=)
12g.51806941C>ACA384886333SCN8Ac.5455C>A (p.Leu1819Ile)
c.3519C>A
c.5332C>A (p.Leu1778Ile)
c.5488C>A (p.Leu1830Ile)
12g.51806941C>GCA384886343SCN8Ac.5455C>G (p.Leu1819Val)
c.3519C>G
c.5332C>G (p.Leu1778Val)
c.5488C>G (p.Leu1830Val)
12g.51806941C>TCA384886347SCN8Ac.5455C>T (p.Leu1819Phe)
c.3519C>T
c.5332C>T (p.Leu1778Phe)
c.5488C>T (p.Leu1830Phe)
12g.51806942T>ACA384886364SCN8Ac.5456T>A (p.Leu1819His)
c.3520T>A
c.5333T>A (p.Leu1778His)
c.5489T>A (p.Leu1830His)
12g.51806942T>CCA384886362SCN8Ac.5456T>C (p.Leu1819Pro)
c.3520T>C
c.5333T>C (p.Leu1778Pro)
c.5489T>C (p.Leu1830Pro)
12g.51806942T>GCA384886358SCN8Ac.5456T>G (p.Leu1819Arg)
c.3520T>G
c.5333T>G (p.Leu1778Arg)
c.5489T>G (p.Leu1830Arg)
12g.51806943C>ACA480062390SCN8Ac.5457C>A (p.Leu1819=)
c.3521C>A
c.5334C>A (p.Leu1778=)
c.5490C>A (p.Leu1830=)
 dbSNP gnomAD v2 gnomAD v4
12g.51806943C=CA2036194052SCN8Ac.5457C= (p.Leu1819=)
c.3521C=
c.5334C= (p.Leu1778=)
c.5490C= (p.Leu1830=)
12g.51806943C>GCA480062392SCN8Ac.5457C>G (p.Leu1819=)
c.3521C>G
c.5334C>G (p.Leu1778=)
c.5490C>G (p.Leu1830=)
12g.51806943C>TCA480062395SCN8Ac.5457C>T (p.Leu1819=)
c.3521C>T
c.5334C>T (p.Leu1778=)
c.5490C>T (p.Leu1830=)
 gnomAD v4 COSMIC COSMIC
12g.51806944C>ACA6571916SCN8Ac.5458C>A (p.Arg1820=)
c.3522C>A
c.5335C>A (p.Arg1779=)
c.5491C>A (p.Arg1831=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806944C=CA2036194058SCN8Ac.5458C= (p.Arg1820=)
c.3522C=
c.5335C= (p.Arg1779=)
c.5491C= (p.Arg1831=)
12g.51806944C>GCA384886366SCN8Ac.5458C>G (p.Arg1820Gly)
c.3522C>G
c.5335C>G (p.Arg1779Gly)
c.5491C>G (p.Arg1831Gly)
12g.51806944C>TCA384886370SCN8Ac.5458C>T (p.Arg1820Ter)
c.3522C>T
c.5335C>T (p.Arg1779Ter)
c.5491C>T (p.Arg1831Ter)
 ClinVar dbSNP gnomAD v4
12g.51806945G>ACA236327645SCN8Ac.5459G>A (p.Arg1820Gln)
c.3523G>A
c.5336G>A (p.Arg1779Gln)
c.5492G>A (p.Arg1831Gln)
 ClinVar dbSNP gnomAD v4
12g.51806945G>CCA384886381SCN8Ac.5459G>C (p.Arg1820Pro)
c.3523G>C
c.5336G>C (p.Arg1779Pro)
c.5492G>C (p.Arg1831Pro)
12g.51806945G=CA2036194074SCN8Ac.5459G= (p.Arg1820=)
c.3523G=
c.5336G= (p.Arg1779=)
c.5492G= (p.Arg1831=)
12g.51806945G>TCA384886387SCN8Ac.5459G>T (p.Arg1820Leu)
c.3523G>T
c.5336G>T (p.Arg1779Leu)
c.5492G>T (p.Arg1831Leu)
 COSMIC COSMIC
12g.51806946A>CCA480062398SCN8Ac.5460A>C (p.Arg1820=)
c.3524A>C
c.5337A>C (p.Arg1779=)
c.5493A>C (p.Arg1831=)
12g.51806946A>GCA480062400SCN8Ac.5460A>G (p.Arg1820=)
c.3524A>G
c.5337A>G (p.Arg1779=)
c.5493A>G (p.Arg1831=)
12g.51806946A>TCA480062401SCN8Ac.5460A>T (p.Arg1820=)
c.3524A>T
c.5337A>T (p.Arg1779=)
c.5493A>T (p.Arg1831=)
 gnomAD v4
12g.51806947G>ACA384886397SCN8Ac.5461G>A (p.Val1821Met)
c.3525G>A
c.5338G>A (p.Val1780Met)
c.5494G>A (p.Val1832Met)
12g.51806947G>CCA384886401SCN8Ac.5461G>C (p.Val1821Leu)
c.3525G>C
c.5338G>C (p.Val1780Leu)
c.5494G>C (p.Val1832Leu)
12g.51806947G>TCA384886398SCN8Ac.5461G>T (p.Val1821Leu)
c.3525G>T
c.5338G>T (p.Val1780Leu)
c.5494G>T (p.Val1832Leu)
12g.51806948T>ACA384886406SCN8Ac.5462T>A (p.Val1821Glu)
c.3526T>A
c.5339T>A (p.Val1780Glu)
c.5495T>A (p.Val1832Glu)
12g.51806948T>CCA384886411SCN8Ac.5462T>C (p.Val1821Ala)
c.3526T>C
c.5339T>C (p.Val1780Ala)
c.5495T>C (p.Val1832Ala)
12g.51806948T>GCA384886414SCN8Ac.5462T>G (p.Val1821Gly)
c.3526T>G
c.5339T>G (p.Val1780Gly)
c.5495T>G (p.Val1832Gly)
12g.51806949G>ACA480062407SCN8Ac.5463G>A (p.Val1821=)
c.3527G>A
c.5340G>A (p.Val1780=)
c.5496G>A (p.Val1832=)
12g.51806949G>CCA480062408SCN8Ac.5463G>C (p.Val1821=)
c.3527G>C
c.5340G>C (p.Val1780=)
c.5496G>C (p.Val1832=)
12g.51806949G=CA2036194088SCN8Ac.5463G= (p.Val1821=)
c.3527G=
c.5340G= (p.Val1780=)
c.5496G= (p.Val1832=)
12g.51806949G>TCA480062409SCN8Ac.5463G>T (p.Val1821=)
c.3527G>T
c.5340G>T (p.Val1780=)
c.5496G>T (p.Val1832=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51806950C>ACA384886441SCN8Ac.5464C>A (p.Pro1822Thr)
c.3528C>A
c.5341C>A (p.Pro1781Thr)
c.5497C>A (p.Pro1833Thr)
12g.51806950C>GCA384886462SCN8Ac.5464C>G (p.Pro1822Ala)
c.3528C>G
c.5341C>G (p.Pro1781Ala)
c.5497C>G (p.Pro1833Ala)
12g.51806950C>TCA384886476SCN8Ac.5464C>T (p.Pro1822Ser)
c.3528C>T
c.5341C>T (p.Pro1781Ser)
c.5497C>T (p.Pro1833Ser)

Number of alleles fetched