Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806537A>CCA384882713SCN8Ac.5051A>C (p.Asp1684Ala)
c.3115A>C
c.4928A>C (p.Asp1643Ala)
c.5084A>C (p.Asp1695Ala)
12g.51806537A>GCA384882711SCN8Ac.5051A>G (p.Asp1684Gly)
c.3115A>G
c.4928A>G (p.Asp1643Gly)
c.5084A>G (p.Asp1695Gly)
12g.51806537A>TCA384882712SCN8Ac.5051A>T (p.Asp1684Val)
c.3115A>T
c.4928A>T (p.Asp1643Val)
c.5084A>T (p.Asp1695Val)
12g.51806538C>ACA384882715SCN8Ac.5052C>A (p.Asp1684Glu)
c.3116C>A
c.4929C>A (p.Asp1643Glu)
c.5085C>A (p.Asp1695Glu)
12g.51806538C>GCA384882717SCN8Ac.5052C>G (p.Asp1684Glu)
c.3116C>G
c.4929C>G (p.Asp1643Glu)
c.5085C>G (p.Asp1695Glu)
12g.51806538C>TCA480061849SCN8Ac.5052C>T (p.Asp1684=)
c.3116C>T
c.4929C>T (p.Asp1643=)
c.5085C>T (p.Asp1695=)
 ClinVar dbSNP gnomAD v4
12g.51806539A>CCA384882719SCN8Ac.5053A>C (p.Met1685Leu)
c.3117A>C
c.4930A>C (p.Met1644Leu)
c.5086A>C (p.Met1696Leu)
12g.51806539A>GCA384882725SCN8Ac.5053A>G (p.Met1685Val)
c.3117A>G
c.4930A>G (p.Met1644Val)
c.5086A>G (p.Met1696Val)
12g.51806539A>TCA384882729SCN8Ac.5053A>T (p.Met1685Leu)
c.3117A>T
c.4930A>T (p.Met1644Leu)
c.5086A>T (p.Met1696Leu)
12g.51806540T>ACA384882731SCN8Ac.5054T>A (p.Met1685Lys)
c.3118T>A
c.4931T>A (p.Met1644Lys)
c.5087T>A (p.Met1696Lys)
12g.51806540T>CCA384882733SCN8Ac.5054T>C (p.Met1685Thr)
c.3118T>C
c.4931T>C (p.Met1644Thr)
c.5087T>C (p.Met1696Thr)
12g.51806540T>GCA384882735SCN8Ac.5054T>G (p.Met1685Arg)
c.3118T>G
c.4931T>G (p.Met1644Arg)
c.5087T>G (p.Met1696Arg)
12g.51806541G>ACA384882742SCN8Ac.5055G>A (p.Met1685Ile)
c.3119G>A
c.4932G>A (p.Met1644Ile)
c.5088G>A (p.Met1696Ile)
12g.51806541G>CCA384882744SCN8Ac.5055G>C (p.Met1685Ile)
c.3119G>C
c.4932G>C (p.Met1644Ile)
c.5088G>C (p.Met1696Ile)
12g.51806541G>TCA384882750SCN8Ac.5055G>T (p.Met1685Ile)
c.3119G>T
c.4932G>T (p.Met1644Ile)
c.5088G>T (p.Met1696Ile)
12g.51806542T>ACA384882755SCN8Ac.5056T>A (p.Phe1686Ile)
c.3120T>A
c.4933T>A (p.Phe1645Ile)
c.5089T>A (p.Phe1697Ile)
12g.51806542T>CCA384882758SCN8Ac.5056T>C (p.Phe1686Leu)
c.3120T>C
c.4933T>C (p.Phe1645Leu)
c.5089T>C (p.Phe1697Leu)
12g.51806542T>GCA384882753SCN8Ac.5056T>G (p.Phe1686Val)
c.3120T>G
c.4933T>G (p.Phe1645Val)
c.5089T>G (p.Phe1697Val)
 ClinVar
12g.51806543T>ACA384882761SCN8Ac.5057T>A (p.Phe1686Tyr)
c.3121T>A
c.4934T>A (p.Phe1645Tyr)
c.5090T>A (p.Phe1697Tyr)
12g.51806543T>CCA384882763SCN8Ac.5057T>C (p.Phe1686Ser)
c.3121T>C
c.4934T>C (p.Phe1645Ser)
c.5090T>C (p.Phe1697Ser)
12g.51806543T>GCA384882766SCN8Ac.5057T>G (p.Phe1686Cys)
c.3121T>G
c.4934T>G (p.Phe1645Cys)
c.5090T>G (p.Phe1697Cys)
12g.51806544C>ACA384882770SCN8Ac.5058C>A (p.Phe1686Leu)
c.3122C>A
c.4935C>A (p.Phe1645Leu)
c.5091C>A (p.Phe1697Leu)
12g.51806544C=CA2036193239SCN8Ac.5058C= (p.Phe1686=)
c.3122C=
c.4935C= (p.Phe1645=)
c.5091C= (p.Phe1697=)
12g.51806544C>GCA384882774SCN8Ac.5058C>G (p.Phe1686Leu)
c.3122C>G
c.4935C>G (p.Phe1645Leu)
c.5091C>G (p.Phe1697Leu)
12g.51806544C>TCA236327457SCN8Ac.5058C>T (p.Phe1686=)
c.3122C>T
c.4935C>T (p.Phe1645=)
c.5091C>T (p.Phe1697=)
 dbSNP gnomAD v4
12g.51806545A>CCA384882780SCN8Ac.5059A>C (p.Asn1687His)
c.3123A>C
c.4936A>C (p.Asn1646His)
c.5092A>C (p.Asn1698His)
12g.51806545A>GCA384882800SCN8Ac.5059A>G (p.Asn1687Asp)
c.3123A>G
c.4936A>G (p.Asn1646Asp)
c.5092A>G (p.Asn1698Asp)
12g.51806545A>TCA384882803SCN8Ac.5059A>T (p.Asn1687Tyr)
c.3123A>T
c.4936A>T (p.Asn1646Tyr)
c.5092A>T (p.Asn1698Tyr)
12g.51806546A=CA2036193245SCN8Ac.5060A= (p.Asn1687=)
c.3124A=
c.4937A= (p.Asn1646=)
c.5093A= (p.Asn1698=)
12g.51806546A>CCA384882805SCN8Ac.5060A>C (p.Asn1687Thr)
c.3124A>C
c.4937A>C (p.Asn1646Thr)
c.5093A>C (p.Asn1698Thr)
12g.51806546A>GCA236327459SCN8Ac.5060A>G (p.Asn1687Ser)
c.3124A>G
c.4937A>G (p.Asn1646Ser)
c.5093A>G (p.Asn1698Ser)
 dbSNP
12g.51806546A>TCA384882810SCN8Ac.5060A>T (p.Asn1687Ile)
c.3124A>T
c.4937A>T (p.Asn1646Ile)
c.5093A>T (p.Asn1698Ile)
12g.51806547C>ACA384882811SCN8Ac.5061C>A (p.Asn1687Lys)
c.3125C>A
c.4938C>A (p.Asn1646Lys)
c.5094C>A (p.Asn1698Lys)
12g.51806547C>GCA384882813SCN8Ac.5061C>G (p.Asn1687Lys)
c.3125C>G
c.4938C>G (p.Asn1646Lys)
c.5094C>G (p.Asn1698Lys)
12g.51806547C>TCA480061865SCN8Ac.5061C>T (p.Asn1687=)
c.3125C>T
c.4938C>T (p.Asn1646=)
c.5094C>T (p.Asn1698=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806548T>ACA384882819SCN8Ac.5062T>A (p.Phe1688Ile)
c.3126T>A
c.4939T>A (p.Phe1647Ile)
c.5095T>A (p.Phe1699Ile)
12g.51806548T>CCA384882818SCN8Ac.5062T>C (p.Phe1688Leu)
c.3126T>C
c.4939T>C (p.Phe1647Leu)
c.5095T>C (p.Phe1699Leu)
12g.51806548T>GCA384882817SCN8Ac.5062T>G (p.Phe1688Val)
c.3126T>G
c.4939T>G (p.Phe1647Val)
c.5095T>G (p.Phe1699Val)
12g.51806549T>ACA384882820SCN8Ac.5063T>A (p.Phe1688Tyr)
c.3127T>A
c.4940T>A (p.Phe1647Tyr)
c.5096T>A (p.Phe1699Tyr)
 dbSNP
12g.51806549T>CCA384882821SCN8Ac.5063T>C (p.Phe1688Ser)
c.3127T>C
c.4940T>C (p.Phe1647Ser)
c.5096T>C (p.Phe1699Ser)
12g.51806549T>GCA384882823SCN8Ac.5063T>G (p.Phe1688Cys)
c.3127T>G
c.4940T>G (p.Phe1647Cys)
c.5096T>G (p.Phe1699Cys)
12g.51806550T>ACA384882827SCN8Ac.5064T>A (p.Phe1688Leu)
c.3128T>A
c.4941T>A (p.Phe1647Leu)
c.5097T>A (p.Phe1699Leu)
12g.51806550T>CCA480061877SCN8Ac.5064T>C (p.Phe1688=)
c.3128T>C
c.4941T>C (p.Phe1647=)
c.5097T>C (p.Phe1699=)
12g.51806550T>GCA384882830SCN8Ac.5064T>G (p.Phe1688Leu)
c.3128T>G
c.4941T>G (p.Phe1647Leu)
c.5097T>G (p.Phe1699Leu)
12g.51806551G>ACA384882834SCN8Ac.5065G>A (p.Glu1689Lys)
c.3129G>A
c.4942G>A (p.Glu1648Lys)
c.5098G>A (p.Glu1700Lys)
12g.51806551G>CCA384882838SCN8Ac.5065G>C (p.Glu1689Gln)
c.3129G>C
c.4942G>C (p.Glu1648Gln)
c.5098G>C (p.Glu1700Gln)
 gnomAD v4
12g.51806551G=CA2036193248SCN8Ac.5065G= (p.Glu1689=)
c.3129G=
c.4942G= (p.Glu1648=)
c.5098G= (p.Glu1700=)
12g.51806551G>TCA384882841SCN8Ac.5065G>T (p.Glu1689Ter)
c.3129G>T
c.4942G>T (p.Glu1648Ter)
c.5098G>T (p.Glu1700Ter)
 dbSNP COSMIC COSMIC
12g.51806552A>CCA384882845SCN8Ac.5066A>C (p.Glu1689Ala)
c.3130A>C
c.4943A>C (p.Glu1648Ala)
c.5099A>C (p.Glu1700Ala)
 ClinVar
12g.51806552A>GCA384882848SCN8Ac.5066A>G (p.Glu1689Gly)
c.3130A>G
c.4943A>G (p.Glu1648Gly)
c.5099A>G (p.Glu1700Gly)
12g.51806552A>TCA384882850SCN8Ac.5066A>T (p.Glu1689Val)
c.3130A>T
c.4943A>T (p.Glu1648Val)
c.5099A>T (p.Glu1700Val)
12g.51806553G>ACA480061885SCN8Ac.5067G>A (p.Glu1689=)
c.3131G>A
c.4944G>A (p.Glu1648=)
c.5100G>A (p.Glu1700=)
12g.51806553G>CCA384882853SCN8Ac.5067G>C (p.Glu1689Asp)
c.3131G>C
c.4944G>C (p.Glu1648Asp)
c.5100G>C (p.Glu1700Asp)
12g.51806553G>TCA384882856SCN8Ac.5067G>T (p.Glu1689Asp)
c.3131G>T
c.4944G>T (p.Glu1648Asp)
c.5100G>T (p.Glu1700Asp)
12g.51806554A>CCA384882866SCN8Ac.5068A>C (p.Thr1690Pro)
c.3132A>C
c.4945A>C (p.Thr1649Pro)
c.5101A>C (p.Thr1701Pro)
12g.51806554A>GCA384882871SCN8Ac.5068A>G (p.Thr1690Ala)
c.3132A>G
c.4945A>G (p.Thr1649Ala)
c.5101A>G (p.Thr1701Ala)
12g.51806554A>TCA384882863SCN8Ac.5068A>T (p.Thr1690Ser)
c.3132A>T
c.4945A>T (p.Thr1649Ser)
c.5101A>T (p.Thr1701Ser)
12g.51806555C>ACA384882877SCN8Ac.5069C>A (p.Thr1690Lys)
c.3133C>A
c.4946C>A (p.Thr1649Lys)
c.5102C>A (p.Thr1701Lys)
12g.51806555C=CA2036193252SCN8Ac.5069C= (p.Thr1690=)
c.3133C=
c.4946C= (p.Thr1649=)
c.5102C= (p.Thr1701=)
12g.51806555C>GCA384882874SCN8Ac.5069C>G (p.Thr1690Arg)
c.3133C>G
c.4946C>G (p.Thr1649Arg)
c.5102C>G (p.Thr1701Arg)
 dbSNP
12g.51806555C>TCA384882891SCN8Ac.5069C>T (p.Thr1690Ile)
c.3133C>T
c.4946C>T (p.Thr1649Ile)
c.5102C>T (p.Thr1701Ile)
 dbSNP gnomAD v4
12g.51806556A=CA2036193259SCN8Ac.5070A= (p.Thr1690=)
c.3134A=
c.4947A= (p.Thr1649=)
c.5103A= (p.Thr1701=)
12g.51806556A>CCA236327463SCN8Ac.5070A>C (p.Thr1690=)
c.3134A>C
c.4947A>C (p.Thr1649=)
c.5103A>C (p.Thr1701=)
 dbSNP
12g.51806556A>GCA6571888SCN8Ac.5070A>G (p.Thr1690=)
c.3134A>G
c.4947A>G (p.Thr1649=)
c.5103A>G (p.Thr1701=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806556A>TCA480061900SCN8Ac.5070A>T (p.Thr1690=)
c.3134A>T
c.4947A>T (p.Thr1649=)
c.5103A>T (p.Thr1701=)
12g.51806557T>ACA384882916SCN8Ac.5071T>A (p.Phe1691Ile)
c.3135T>A
c.4948T>A (p.Phe1650Ile)
c.5104T>A (p.Phe1702Ile)
12g.51806557T>CCA384882918SCN8Ac.5071T>C (p.Phe1691Leu)
c.3135T>C
c.4948T>C (p.Phe1650Leu)
c.5104T>C (p.Phe1702Leu)
12g.51806557T>GCA384882919SCN8Ac.5071T>G (p.Phe1691Val)
c.3135T>G
c.4948T>G (p.Phe1650Val)
c.5104T>G (p.Phe1702Val)
12g.51806558T>ACA384882923SCN8Ac.5072T>A (p.Phe1691Tyr)
c.3136T>A
c.4949T>A (p.Phe1650Tyr)
c.5105T>A (p.Phe1702Tyr)
 dbSNP
12g.51806558T>CCA384882925SCN8Ac.5072T>C (p.Phe1691Ser)
c.3136T>C
c.4949T>C (p.Phe1650Ser)
c.5105T>C (p.Phe1702Ser)
12g.51806558T>GCA384882929SCN8Ac.5072T>G (p.Phe1691Cys)
c.3136T>G
c.4949T>G (p.Phe1650Cys)
c.5105T>G (p.Phe1702Cys)
12g.51806558T=CA2036193268SCN8Ac.5072T= (p.Phe1691=)
c.3136T=
c.4949T= (p.Phe1650=)
c.5105T= (p.Phe1702=)
12g.51806559T>ACA384882933SCN8Ac.5073T>A (p.Phe1691Leu)
c.3137T>A
c.4950T>A (p.Phe1650Leu)
c.5106T>A (p.Phe1702Leu)
12g.51806559T>CCA480061906SCN8Ac.5073T>C (p.Phe1691=)
c.3137T>C
c.4950T>C (p.Phe1650=)
c.5106T>C (p.Phe1702=)
12g.51806559T>GCA384882937SCN8Ac.5073T>G (p.Phe1691Leu)
c.3137T>G
c.4950T>G (p.Phe1650Leu)
c.5106T>G (p.Phe1702Leu)
12g.51806560G>ACA384882938SCN8Ac.5074G>A (p.Gly1692Ser)
c.3138G>A
c.4951G>A (p.Gly1651Ser)
c.5107G>A (p.Gly1703Ser)
12g.51806560G>CCA384882939SCN8Ac.5074G>C (p.Gly1692Arg)
c.3138G>C
c.4951G>C (p.Gly1651Arg)
c.5107G>C (p.Gly1703Arg)
12g.51806560G>TCA384882942SCN8Ac.5074G>T (p.Gly1692Cys)
c.3138G>T
c.4951G>T (p.Gly1651Cys)
c.5107G>T (p.Gly1703Cys)
12g.51806560_51806575delinsGGCAACAGCATGATCTCA2036193271SCN8Ac.5074_5089delinsGGCAACAGCATGATCT (p.Gly1692=)
c.3138_3153delinsGGCAACAGCATGATCT
c.4951_4966delinsGGCAACAGCATGATCT (p.Gly1651=)
c.5107_5122delinsGGCAACAGCATGATCT (p.Gly1703=)
12g.51806561G>ACA384882950SCN8Ac.5075G>A (p.Gly1692Asp)
c.3139G>A
c.4952G>A (p.Gly1651Asp)
c.5108G>A (p.Gly1703Asp)
 dbSNP gnomAD v4
12g.51806561G>CCA384882945SCN8Ac.5075G>C (p.Gly1692Ala)
c.3139G>C
c.4952G>C (p.Gly1651Ala)
c.5108G>C (p.Gly1703Ala)
12g.51806561G=CA2036193274SCN8Ac.5075G= (p.Gly1692=)
c.3139G=
c.4952G= (p.Gly1651=)
c.5108G= (p.Gly1703=)
12g.51806561G>TCA384882948SCN8Ac.5075G>T (p.Gly1692Val)
c.3139G>T
c.4952G>T (p.Gly1651Val)
c.5108G>T (p.Gly1703Val)
12g.51806561_51806562delinsAACA2580086519SCN8Ac.5075_5076delinsAA (p.Gly1692Glu)
c.3139_3140delinsAA
c.4952_4953delinsAA (p.Gly1651Glu)
c.5108_5109delinsAA (p.Gly1703Glu)
 ClinVar
12g.51806563_51806577delCA16619565SCN8Ac.5077_5091del (p.Asn1693_Cys1697del)
c.3141_3155del
c.4954_4968del (p.Asn1652_Cys1656del)
c.5110_5124del (p.Asn1704_Cys1708del)
 ClinVar dbSNP
12g.51806562C>ACA480061913SCN8Ac.5076C>A (p.Gly1692=)
c.3140C>A
c.4953C>A (p.Gly1651=)
c.5109C>A (p.Gly1703=)
 dbSNP gnomAD v4
12g.51806562C=CA2036193287SCN8Ac.5076C= (p.Gly1692=)
c.3140C=
c.4953C= (p.Gly1651=)
c.5109C= (p.Gly1703=)
12g.51806562C>GCA480061914SCN8Ac.5076C>G (p.Gly1692=)
c.3140C>G
c.4953C>G (p.Gly1651=)
c.5109C>G (p.Gly1703=)
12g.51806562C>TCA480061915SCN8Ac.5076C>T (p.Gly1692=)
c.3140C>T
c.4953C>T (p.Gly1651=)
c.5109C>T (p.Gly1703=)
12g.51806563A>CCA384882953SCN8Ac.5077A>C (p.Asn1693His)
c.3141A>C
c.4954A>C (p.Asn1652His)
c.5110A>C (p.Asn1704His)
12g.51806563A>GCA384882960SCN8Ac.5077A>G (p.Asn1693Asp)
c.3141A>G
c.4954A>G (p.Asn1652Asp)
c.5110A>G (p.Asn1704Asp)
12g.51806563A>TCA384882964SCN8Ac.5077A>T (p.Asn1693Tyr)
c.3141A>T
c.4954A>T (p.Asn1652Tyr)
c.5110A>T (p.Asn1704Tyr)
12g.51806564A>CCA384882972SCN8Ac.5078A>C (p.Asn1693Thr)
c.3142A>C
c.4955A>C (p.Asn1652Thr)
c.5111A>C (p.Asn1704Thr)
12g.51806564A>GCA384882974SCN8Ac.5078A>G (p.Asn1693Ser)
c.3142A>G
c.4955A>G (p.Asn1652Ser)
c.5111A>G (p.Asn1704Ser)
12g.51806564A>TCA384882975SCN8Ac.5078A>T (p.Asn1693Ile)
c.3142A>T
c.4955A>T (p.Asn1652Ile)
c.5111A>T (p.Asn1704Ile)
12g.51806565C>ACA384882978SCN8Ac.5079C>A (p.Asn1693Lys)
c.3143C>A
c.4956C>A (p.Asn1652Lys)
c.5112C>A (p.Asn1704Lys)
12g.51806565C>GCA384882980SCN8Ac.5079C>G (p.Asn1693Lys)
c.3143C>G
c.4956C>G (p.Asn1652Lys)
c.5112C>G (p.Asn1704Lys)
 gnomAD v4
12g.51806565C>TCA480061921SCN8Ac.5079C>T (p.Asn1693=)
c.3143C>T
c.4956C>T (p.Asn1652=)
c.5112C>T (p.Asn1704=)
12g.51806566A>CCA384882984SCN8Ac.5080A>C (p.Ser1694Arg)
c.3144A>C
c.4957A>C (p.Ser1653Arg)
c.5113A>C (p.Ser1705Arg)
12g.51806566A>GCA384882985SCN8Ac.5080A>G (p.Ser1694Gly)
c.3144A>G
c.4957A>G (p.Ser1653Gly)
c.5113A>G (p.Ser1705Gly)
 gnomAD v4
12g.51806566A>TCA384882986SCN8Ac.5080A>T (p.Ser1694Cys)
c.3144A>T
c.4957A>T (p.Ser1653Cys)
c.5113A>T (p.Ser1705Cys)
12g.51806567G>ACA384883003SCN8Ac.5081G>A (p.Ser1694Asn)
c.3145G>A
c.4958G>A (p.Ser1653Asn)
c.5114G>A (p.Ser1705Asn)
12g.51806567G>CCA384882991SCN8Ac.5081G>C (p.Ser1694Thr)
c.3145G>C
c.4958G>C (p.Ser1653Thr)
c.5114G>C (p.Ser1705Thr)
12g.51806567G>TCA384882988SCN8Ac.5081G>T (p.Ser1694Ile)
c.3145G>T
c.4958G>T (p.Ser1653Ile)
c.5114G>T (p.Ser1705Ile)
12g.51806568C>ACA384883008SCN8Ac.5082C>A (p.Ser1694Arg)
c.3146C>A
c.4959C>A (p.Ser1653Arg)
c.5115C>A (p.Ser1705Arg)
12g.51806568C=CA2036193294SCN8Ac.5082C= (p.Ser1694=)
c.3146C=
c.4959C= (p.Ser1653=)
c.5115C= (p.Ser1705=)
12g.51806568C>GCA384883024SCN8Ac.5082C>G (p.Ser1694Arg)
c.3146C>G
c.4959C>G (p.Ser1653Arg)
c.5115C>G (p.Ser1705Arg)
12g.51806568C>TCA480061925SCN8Ac.5082C>T (p.Ser1694=)
c.3146C>T
c.4959C>T (p.Ser1653=)
c.5115C>T (p.Ser1705=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806569A=CA2036193299SCN8Ac.5083A= (p.Met1695=)
c.3147A=
c.4960A= (p.Met1654=)
c.5116A= (p.Met1706=)
12g.51806569A>CCA384883036SCN8Ac.5083A>C (p.Met1695Leu)
c.3147A>C
c.4960A>C (p.Met1654Leu)
c.5116A>C (p.Met1706Leu)
12g.51806569A>GCA236327464SCN8Ac.5083A>G (p.Met1695Val)
c.3147A>G
c.4960A>G (p.Met1654Val)
c.5116A>G (p.Met1706Val)
 dbSNP gnomAD v3 gnomAD v4
12g.51806569A>TCA384883043SCN8Ac.5083A>T (p.Met1695Leu)
c.3147A>T
c.4960A>T (p.Met1654Leu)
c.5116A>T (p.Met1706Leu)
12g.51806570T>ACA384883055SCN8Ac.5084T>A (p.Met1695Lys)
c.3148T>A
c.4961T>A (p.Met1654Lys)
c.5117T>A (p.Met1706Lys)
12g.51806570T>CCA384883054SCN8Ac.5084T>C (p.Met1695Thr)
c.3148T>C
c.4961T>C (p.Met1654Thr)
c.5117T>C (p.Met1706Thr)
 ClinVar dbSNP
12g.51806570T>GCA384883045SCN8Ac.5084T>G (p.Met1695Arg)
c.3148T>G
c.4961T>G (p.Met1654Arg)
c.5117T>G (p.Met1706Arg)
12g.51806571delCA2618841539SCN8Ac.5085del (p.Met1695IlefsTer21)
c.3149del
c.4962del (p.Met1654IlefsTer21)
c.5118del (p.Met1706IlefsTer21)
 gnomAD v4
12g.51806571G>ACA384883059SCN8Ac.5085G>A (p.Met1695Ile)
c.3149G>A
c.4962G>A (p.Met1654Ile)
c.5118G>A (p.Met1706Ile)
12g.51806571G>CCA384883061SCN8Ac.5085G>C (p.Met1695Ile)
c.3149G>C
c.4962G>C (p.Met1654Ile)
c.5118G>C (p.Met1706Ile)
12g.51806571G>TCA384883062SCN8Ac.5085G>T (p.Met1695Ile)
c.3149G>T
c.4962G>T (p.Met1654Ile)
c.5118G>T (p.Met1706Ile)
12g.51806572A>CCA384883069SCN8Ac.5086A>C (p.Ile1696Leu)
c.3150A>C
c.4963A>C (p.Ile1655Leu)
c.5119A>C (p.Ile1707Leu)
12g.51806572A>GCA384883077SCN8Ac.5086A>G (p.Ile1696Val)
c.3150A>G
c.4963A>G (p.Ile1655Val)
c.5119A>G (p.Ile1707Val)
12g.51806572A>TCA384883081SCN8Ac.5086A>T (p.Ile1696Phe)
c.3150A>T
c.4963A>T (p.Ile1655Phe)
c.5119A>T (p.Ile1707Phe)
12g.51806573T>ACA384883090SCN8Ac.5087T>A (p.Ile1696Asn)
c.3151T>A
c.4964T>A (p.Ile1655Asn)
c.5120T>A (p.Ile1707Asn)
12g.51806573T>CCA384883113SCN8Ac.5087T>C (p.Ile1696Thr)
c.3151T>C
c.4964T>C (p.Ile1655Thr)
c.5120T>C (p.Ile1707Thr)
 gnomAD v4
12g.51806573T>GCA384883109SCN8Ac.5087T>G (p.Ile1696Ser)
c.3151T>G
c.4964T>G (p.Ile1655Ser)
c.5120T>G (p.Ile1707Ser)
 ClinVar gnomAD v4
12g.51806574C>ACA480061936SCN8Ac.5088C>A (p.Ile1696=)
c.3152C>A
c.4965C>A (p.Ile1655=)
c.5121C>A (p.Ile1707=)
12g.51806574C>GCA384883120SCN8Ac.5088C>G (p.Ile1696Met)
c.3152C>G
c.4965C>G (p.Ile1655Met)
c.5121C>G (p.Ile1707Met)
12g.51806574C>TCA480061937SCN8Ac.5088C>T (p.Ile1696=)
c.3152C>T
c.4965C>T (p.Ile1655=)
c.5121C>T (p.Ile1707=)
12g.51806575T>ACA384883126SCN8Ac.5089T>A (p.Cys1697Ser)
c.3153T>A
c.4966T>A (p.Cys1656Ser)
c.5122T>A (p.Cys1708Ser)
12g.51806575T>CCA384883132SCN8Ac.5089T>C (p.Cys1697Arg)
c.3153T>C
c.4966T>C (p.Cys1656Arg)
c.5122T>C (p.Cys1708Arg)
12g.51806575T>GCA384883135SCN8Ac.5089T>G (p.Cys1697Gly)
c.3153T>G
c.4966T>G (p.Cys1656Gly)
c.5122T>G (p.Cys1708Gly)
12g.51806576G>ACA384883136SCN8Ac.5090G>A (p.Cys1697Tyr)
c.3154G>A
c.4967G>A (p.Cys1656Tyr)
c.5123G>A (p.Cys1708Tyr)
12g.51806576G>CCA384883143SCN8Ac.5090G>C (p.Cys1697Ser)
c.3154G>C
c.4967G>C (p.Cys1656Ser)
c.5123G>C (p.Cys1708Ser)
12g.51806576G>TCA384883146SCN8Ac.5090G>T (p.Cys1697Phe)
c.3154G>T
c.4967G>T (p.Cys1656Phe)
c.5123G>T (p.Cys1708Phe)
12g.51806577C>ACA384883152SCN8Ac.5091C>A (p.Cys1697Ter)
c.3155C>A
c.4968C>A (p.Cys1656Ter)
c.5124C>A (p.Cys1708Ter)
 dbSNP
12g.51806577C=CA2036193307SCN8Ac.5091C= (p.Cys1697=)
c.3155C=
c.4968C= (p.Cys1656=)
c.5124C= (p.Cys1708=)
12g.51806577C>GCA384883153SCN8Ac.5091C>G (p.Cys1697Trp)
c.3155C>G
c.4968C>G (p.Cys1656Trp)
c.5124C>G (p.Cys1708Trp)
12g.51806577C>TCA480061941SCN8Ac.5091C>T (p.Cys1697=)
c.3155C>T
c.4968C>T (p.Cys1656=)
c.5124C>T (p.Cys1708=)
12g.51806578C>ACA384883157SCN8Ac.5092C>A (p.Leu1698Met)
c.3156C>A
c.4969C>A (p.Leu1657Met)
c.5125C>A (p.Leu1709Met)
12g.51806578C>GCA384883162SCN8Ac.5092C>G (p.Leu1698Val)
c.3156C>G
c.4969C>G (p.Leu1657Val)
c.5125C>G (p.Leu1709Val)
12g.51806578C>TCA480061942SCN8Ac.5092C>T (p.Leu1698=)
c.3156C>T
c.4969C>T (p.Leu1657=)
c.5125C>T (p.Leu1709=)
12g.51806579T>ACA384883180SCN8Ac.5093T>A (p.Leu1698Gln)
c.3157T>A
c.4970T>A (p.Leu1657Gln)
c.5126T>A (p.Leu1709Gln)
12g.51806579T>CCA384883177SCN8Ac.5093T>C (p.Leu1698Pro)
c.3157T>C
c.4970T>C (p.Leu1657Pro)
c.5126T>C (p.Leu1709Pro)
12g.51806579T>GCA384883176SCN8Ac.5093T>G (p.Leu1698Arg)
c.3157T>G
c.4970T>G (p.Leu1657Arg)
c.5126T>G (p.Leu1709Arg)
12g.51806580G>ACA480061946SCN8Ac.5094G>A (p.Leu1698=)
c.3158G>A
c.4971G>A (p.Leu1657=)
c.5127G>A (p.Leu1709=)
12g.51806580G>CCA480061945SCN8Ac.5094G>C (p.Leu1698=)
c.3158G>C
c.4971G>C (p.Leu1657=)
c.5127G>C (p.Leu1709=)
12g.51806580G>TCA480061944SCN8Ac.5094G>T (p.Leu1698=)
c.3158G>T
c.4971G>T (p.Leu1657=)
c.5127G>T (p.Leu1709=)
 gnomAD v4
12g.51806581T>ACA384883186SCN8Ac.5095T>A (p.Phe1699Ile)
c.3159T>A
c.4972T>A (p.Phe1658Ile)
c.5128T>A (p.Phe1710Ile)
12g.51806581T>CCA384883192SCN8Ac.5095T>C (p.Phe1699Leu)
c.3159T>C
c.4972T>C (p.Phe1658Leu)
c.5128T>C (p.Phe1710Leu)
12g.51806581T>GCA384883188SCN8Ac.5095T>G (p.Phe1699Val)
c.3159T>G
c.4972T>G (p.Phe1658Val)
c.5128T>G (p.Phe1710Val)
12g.51806582T>ACA384883196SCN8Ac.5096T>A (p.Phe1699Tyr)
c.3160T>A
c.4973T>A (p.Phe1658Tyr)
c.5129T>A (p.Phe1710Tyr)
12g.51806582T>CCA384883198SCN8Ac.5096T>C (p.Phe1699Ser)
c.3160T>C
c.4973T>C (p.Phe1658Ser)
c.5129T>C (p.Phe1710Ser)
12g.51806582T>GCA384883201SCN8Ac.5096T>G (p.Phe1699Cys)
c.3160T>G
c.4973T>G (p.Phe1658Cys)
c.5129T>G (p.Phe1710Cys)
12g.51806583T>ACA384883251SCN8Ac.5097T>A (p.Phe1699Leu)
c.3161T>A
c.4974T>A (p.Phe1658Leu)
c.5130T>A (p.Phe1710Leu)
12g.51806583T>CCA480061951SCN8Ac.5097T>C (p.Phe1699=)
c.3161T>C
c.4974T>C (p.Phe1658=)
c.5130T>C (p.Phe1710=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806583T>GCA384883252SCN8Ac.5097T>G (p.Phe1699Leu)
c.3161T>G
c.4974T>G (p.Phe1658Leu)
c.5130T>G (p.Phe1710Leu)
12g.51806583T=CA2036193309SCN8Ac.5097T= (p.Phe1699=)
c.3161T=
c.4974T= (p.Phe1658=)
c.5130T= (p.Phe1710=)
12g.51806584C>ACA384883257SCN8Ac.5098C>A (p.Gln1700Lys)
c.3162C>A
c.4975C>A (p.Gln1659Lys)
c.5131C>A (p.Gln1711Lys)
12g.51806584C=CA2036193311SCN8Ac.5098C= (p.Gln1700=)
c.3162C=
c.4975C= (p.Gln1659=)
c.5131C= (p.Gln1711=)
12g.51806584C>GCA384883264SCN8Ac.5098C>G (p.Gln1700Glu)
c.3162C>G
c.4975C>G (p.Gln1659Glu)
c.5131C>G (p.Gln1711Glu)
12g.51806584C>TCA384883269SCN8Ac.5098C>T (p.Gln1700Ter)
c.3162C>T
c.4975C>T (p.Gln1659Ter)
c.5131C>T (p.Gln1711Ter)
 dbSNP
12g.51806585A>CCA384883273SCN8Ac.5099A>C (p.Gln1700Pro)
c.3163A>C
c.4976A>C (p.Gln1659Pro)
c.5132A>C (p.Gln1711Pro)
12g.51806585A>GCA384883277SCN8Ac.5099A>G (p.Gln1700Arg)
c.3163A>G
c.4976A>G (p.Gln1659Arg)
c.5132A>G (p.Gln1711Arg)
12g.51806585A>TCA384883280SCN8Ac.5099A>T (p.Gln1700Leu)
c.3163A>T
c.4976A>T (p.Gln1659Leu)
c.5132A>T (p.Gln1711Leu)
12g.51806586A>CCA384883286SCN8Ac.5100A>C (p.Gln1700His)
c.3164A>C
c.4977A>C (p.Gln1659His)
c.5133A>C (p.Gln1711His)
12g.51806586A>GCA480061958SCN8Ac.5100A>G (p.Gln1700=)
c.3164A>G
c.4977A>G (p.Gln1659=)
c.5133A>G (p.Gln1711=)
12g.51806586A>TCA384883291SCN8Ac.5100A>T (p.Gln1700His)
c.3164A>T
c.4977A>T (p.Gln1659His)
c.5133A>T (p.Gln1711His)
12g.51806587A>CCA384883295SCN8Ac.5101A>C (p.Ile1701Leu)
c.3165A>C
c.4978A>C (p.Ile1660Leu)
c.5134A>C (p.Ile1712Leu)
12g.51806587A>GCA384883308SCN8Ac.5101A>G (p.Ile1701Val)
c.3165A>G
c.4978A>G (p.Ile1660Val)
c.5134A>G (p.Ile1712Val)
12g.51806587A>TCA384883300SCN8Ac.5101A>T (p.Ile1701Phe)
c.3165A>T
c.4978A>T (p.Ile1660Phe)
c.5134A>T (p.Ile1712Phe)
12g.51806588T>ACA384883313SCN8Ac.5102T>A (p.Ile1701Asn)
c.3166T>A
c.4979T>A (p.Ile1660Asn)
c.5135T>A (p.Ile1712Asn)
12g.51806588T>CCA384883322SCN8Ac.5102T>C (p.Ile1701Thr)
c.3166T>C
c.4979T>C (p.Ile1660Thr)
c.5135T>C (p.Ile1712Thr)
12g.51806588T>GCA384883326SCN8Ac.5102T>G (p.Ile1701Ser)
c.3166T>G
c.4979T>G (p.Ile1660Ser)
c.5135T>G (p.Ile1712Ser)
12g.51806589C>ACA480061963SCN8Ac.5103C>A (p.Ile1701=)
c.3167C>A
c.4980C>A (p.Ile1660=)
c.5136C>A (p.Ile1712=)
12g.51806589C>GCA384883335SCN8Ac.5103C>G (p.Ile1701Met)
c.3167C>G
c.4980C>G (p.Ile1660Met)
c.5136C>G (p.Ile1712Met)
12g.51806589C>TCA480061965SCN8Ac.5103C>T (p.Ile1701=)
c.3167C>T
c.4980C>T (p.Ile1660=)
c.5136C>T (p.Ile1712=)
12g.51806590A>CCA384883345SCN8Ac.5104A>C (p.Thr1702Pro)
c.3168A>C
c.4981A>C (p.Thr1661Pro)
c.5137A>C (p.Thr1713Pro)
12g.51806590A>GCA384883349SCN8Ac.5104A>G (p.Thr1702Ala)
c.3168A>G
c.4981A>G (p.Thr1661Ala)
c.5137A>G (p.Thr1713Ala)
12g.51806590A>TCA384883354SCN8Ac.5104A>T (p.Thr1702Ser)
c.3168A>T
c.4981A>T (p.Thr1661Ser)
c.5137A>T (p.Thr1713Ser)
12g.51806591C>ACA384883363SCN8Ac.5105C>A (p.Thr1702Lys)
c.3169C>A
c.4982C>A (p.Thr1661Lys)
c.5138C>A (p.Thr1713Lys)
12g.51806591C=CA2036193321SCN8Ac.5105C= (p.Thr1702=)
c.3169C=
c.4982C= (p.Thr1661=)
c.5138C= (p.Thr1713=)
12g.51806591C>GCA384883365SCN8Ac.5105C>G (p.Thr1702Arg)
c.3169C>G
c.4982C>G (p.Thr1661Arg)
c.5138C>G (p.Thr1713Arg)
12g.51806591C>TCA384883366SCN8Ac.5105C>T (p.Thr1702Ile)
c.3169C>T
c.4982C>T (p.Thr1661Ile)
c.5138C>T (p.Thr1713Ile)
12g.51806592A>CCA480061968SCN8Ac.5106A>C (p.Thr1702=)
c.3170A>C
c.4983A>C (p.Thr1661=)
c.5139A>C (p.Thr1713=)
12g.51806592A>GCA480061969SCN8Ac.5106A>G (p.Thr1702=)
c.3170A>G
c.4983A>G (p.Thr1661=)
c.5139A>G (p.Thr1713=)
12g.51806592A>TCA480061970SCN8Ac.5106A>T (p.Thr1702=)
c.3170A>T
c.4983A>T (p.Thr1661=)
c.5139A>T (p.Thr1713=)
12g.51806593dupCA2036193324SCN8Ac.5107dup (p.Thr1703AsnfsTer18)
c.3171dup
c.4984dup (p.Thr1662AsnfsTer18)
c.5140dup (p.Thr1714AsnfsTer18)
 dbSNP
12g.51806593A>CCA384883379SCN8Ac.5107A>C (p.Thr1703Pro)
c.3171A>C
c.4984A>C (p.Thr1662Pro)
c.5140A>C (p.Thr1714Pro)
12g.51806593A>GCA384883383SCN8Ac.5107A>G (p.Thr1703Ala)
c.3171A>G
c.4984A>G (p.Thr1662Ala)
c.5140A>G (p.Thr1714Ala)
 ClinVar
12g.51806593A>TCA384883374SCN8Ac.5107A>T (p.Thr1703Ser)
c.3171A>T
c.4984A>T (p.Thr1662Ser)
c.5140A>T (p.Thr1714Ser)
12g.51806594C>ACA384883388SCN8Ac.5108C>A (p.Thr1703Asn)
c.3172C>A
c.4985C>A (p.Thr1662Asn)
c.5141C>A (p.Thr1714Asn)
 ClinVar dbSNP
12g.51806594C>GCA384883389SCN8Ac.5108C>G (p.Thr1703Ser)
c.3172C>G
c.4985C>G (p.Thr1662Ser)
c.5141C>G (p.Thr1714Ser)
12g.51806594C>TCA384883393SCN8Ac.5108C>T (p.Thr1703Ile)
c.3172C>T
c.4985C>T (p.Thr1662Ile)
c.5141C>T (p.Thr1714Ile)
12g.51806595C>ACA480061978SCN8Ac.5109C>A (p.Thr1703=)
c.3173C>A
c.4986C>A (p.Thr1662=)
c.5142C>A (p.Thr1714=)
12g.51806595C>GCA480061980SCN8Ac.5109C>G (p.Thr1703=)
c.3173C>G
c.4986C>G (p.Thr1662=)
c.5142C>G (p.Thr1714=)
12g.51806595C>TCA480061981SCN8Ac.5109C>T (p.Thr1703=)
c.3173C>T
c.4986C>T (p.Thr1662=)
c.5142C>T (p.Thr1714=)
12g.51806596T>ACA384883405SCN8Ac.5110T>A (p.Ser1704Thr)
c.3174T>A
c.4987T>A (p.Ser1663Thr)
c.5143T>A (p.Ser1715Thr)
 ClinVar dbSNP COSMIC COSMIC
12g.51806596T>CCA384883406SCN8Ac.5110T>C (p.Ser1704Pro)
c.3174T>C
c.4987T>C (p.Ser1663Pro)
c.5143T>C (p.Ser1715Pro)
12g.51806596T>GCA384883409SCN8Ac.5110T>G (p.Ser1704Ala)
c.3174T>G
c.4987T>G (p.Ser1663Ala)
c.5143T>G (p.Ser1715Ala)
12g.51806597C>ACA384883428SCN8Ac.5111C>A (p.Ser1704Ter)
c.3175C>A
c.4988C>A (p.Ser1663Ter)
c.5144C>A (p.Ser1715Ter)
12g.51806597C>GCA384883430SCN8Ac.5111C>G (p.Ser1704Ter)
c.3175C>G
c.4988C>G (p.Ser1663Ter)
c.5144C>G (p.Ser1715Ter)
12g.51806597C>TCA384883432SCN8Ac.5111C>T (p.Ser1704Leu)
c.3175C>T
c.4988C>T (p.Ser1663Leu)
c.5144C>T (p.Ser1715Leu)
12g.51806598A=CA2036193332SCN8Ac.5112A= (p.Ser1704=)
c.3176A=
c.4989A= (p.Ser1663=)
c.5145A= (p.Ser1715=)
12g.51806598A>CCA480061985SCN8Ac.5112A>C (p.Ser1704=)
c.3176A>C
c.4989A>C (p.Ser1663=)
c.5145A>C (p.Ser1715=)
12g.51806598A>GCA6571889SCN8Ac.5112A>G (p.Ser1704=)
c.3176A>G
c.4989A>G (p.Ser1663=)
c.5145A>G (p.Ser1715=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806598A>TCA480061987SCN8Ac.5112A>T (p.Ser1704=)
c.3176A>T
c.4989A>T (p.Ser1663=)
c.5145A>T (p.Ser1715=)
 gnomAD v4
12g.51806599G>ACA384883442SCN8Ac.5113G>A (p.Ala1705Thr)
c.3177G>A
c.4990G>A (p.Ala1664Thr)
c.5146G>A (p.Ala1716Thr)
12g.51806599G>CCA384883443SCN8Ac.5113G>C (p.Ala1705Pro)
c.3177G>C
c.4990G>C (p.Ala1664Pro)
c.5146G>C (p.Ala1716Pro)
12g.51806599G>TCA384883444SCN8Ac.5113G>T (p.Ala1705Ser)
c.3177G>T
c.4990G>T (p.Ala1664Ser)
c.5146G>T (p.Ala1716Ser)
12g.51806600C>ACA384883458SCN8Ac.5114C>A (p.Ala1705Asp)
c.3178C>A
c.4991C>A (p.Ala1664Asp)
c.5147C>A (p.Ala1716Asp)
12g.51806600C>GCA384883454SCN8Ac.5114C>G (p.Ala1705Gly)
c.3178C>G
c.4991C>G (p.Ala1664Gly)
c.5147C>G (p.Ala1716Gly)
12g.51806600C>TCA384883451SCN8Ac.5114C>T (p.Ala1705Val)
c.3178C>T
c.4991C>T (p.Ala1664Val)
c.5147C>T (p.Ala1716Val)
12g.51806601T>ACA480061994SCN8Ac.5115T>A (p.Ala1705=)
c.3179T>A
c.4992T>A (p.Ala1664=)
c.5148T>A (p.Ala1716=)
12g.51806601T>CCA480061996SCN8Ac.5115T>C (p.Ala1705=)
c.3179T>C
c.4992T>C (p.Ala1664=)
c.5148T>C (p.Ala1716=)
12g.51806601T>GCA480061995SCN8Ac.5115T>G (p.Ala1705=)
c.3179T>G
c.4992T>G (p.Ala1664=)
c.5148T>G (p.Ala1716=)
12g.51806602G>ACA384883469SCN8Ac.5116G>A (p.Gly1706Ser)
c.3180G>A
c.4993G>A (p.Gly1665Ser)
c.5149G>A (p.Gly1717Ser)
12g.51806602G>CCA384883472SCN8Ac.5116G>C (p.Gly1706Arg)
c.3180G>C
c.4993G>C (p.Gly1665Arg)
c.5149G>C (p.Gly1717Arg)
12g.51806602G>TCA384883478SCN8Ac.5116G>T (p.Gly1706Cys)
c.3180G>T
c.4993G>T (p.Gly1665Cys)
c.5149G>T (p.Gly1717Cys)
12g.51806603G>ACA384883491SCN8Ac.5117G>A (p.Gly1706Asp)
c.3181G>A
c.4994G>A (p.Gly1665Asp)
c.5150G>A (p.Gly1717Asp)
12g.51806603G>CCA384883508SCN8Ac.5117G>C (p.Gly1706Ala)
c.3181G>C
c.4994G>C (p.Gly1665Ala)
c.5150G>C (p.Gly1717Ala)
12g.51806603G>TCA384883513SCN8Ac.5117G>T (p.Gly1706Val)
c.3181G>T
c.4994G>T (p.Gly1665Val)
c.5150G>T (p.Gly1717Val)
12g.51806604T>ACA480062001SCN8Ac.5118T>A (p.Gly1706=)
c.3182T>A
c.4995T>A (p.Gly1665=)
c.5151T>A (p.Gly1717=)
12g.51806604T>CCA6571890SCN8Ac.5118T>C (p.Gly1706=)
c.3182T>C
c.4995T>C (p.Gly1665=)
c.5151T>C (p.Gly1717=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806604T>GCA480062002SCN8Ac.5118T>G (p.Gly1706=)
c.3182T>G
c.4995T>G (p.Gly1665=)
c.5151T>G (p.Gly1717=)
12g.51806604T=CA2036193335SCN8Ac.5118T= (p.Gly1706=)
c.3182T=
c.4995T= (p.Gly1665=)
c.5151T= (p.Gly1717=)
12g.51806605T>ACA384883521SCN8Ac.5119T>A (p.Trp1707Arg)
c.3183T>A
c.4996T>A (p.Trp1666Arg)
c.5152T>A (p.Trp1718Arg)
12g.51806605T>CCA384883528SCN8Ac.5119T>C (p.Trp1707Arg)
c.3183T>C
c.4996T>C (p.Trp1666Arg)
c.5152T>C (p.Trp1718Arg)
12g.51806605T>GCA384883534SCN8Ac.5119T>G (p.Trp1707Gly)
c.3183T>G
c.4996T>G (p.Trp1666Gly)
c.5152T>G (p.Trp1718Gly)
12g.51806606G>ACA384883544SCN8Ac.5120G>A (p.Trp1707Ter)
c.3184G>A
c.4997G>A (p.Trp1666Ter)
c.5153G>A (p.Trp1718Ter)
12g.51806606G>CCA384883548SCN8Ac.5120G>C (p.Trp1707Ser)
c.3184G>C
c.4997G>C (p.Trp1666Ser)
c.5153G>C (p.Trp1718Ser)
12g.51806606G>TCA384883553SCN8Ac.5120G>T (p.Trp1707Leu)
c.3184G>T
c.4997G>T (p.Trp1666Leu)
c.5153G>T (p.Trp1718Leu)
12g.51806607G>ACA384883563SCN8Ac.5121G>A (p.Trp1707Ter)
c.3185G>A
c.4998G>A (p.Trp1666Ter)
c.5154G>A (p.Trp1718Ter)
 dbSNP
12g.51806607G>CCA384883567SCN8Ac.5121G>C (p.Trp1707Cys)
c.3185G>C
c.4998G>C (p.Trp1666Cys)
c.5154G>C (p.Trp1718Cys)
12g.51806607G=CA2036193338SCN8Ac.5121G= (p.Trp1707=)
c.3185G=
c.4998G= (p.Trp1666=)
c.5154G= (p.Trp1718=)
12g.51806607G>TCA384883565SCN8Ac.5121G>T (p.Trp1707Cys)
c.3185G>T
c.4998G>T (p.Trp1666Cys)
c.5154G>T (p.Trp1718Cys)
12g.51806608G>ACA384883572SCN8Ac.5122G>A (p.Asp1708Asn)
c.3186G>A
c.4999G>A (p.Asp1667Asn)
c.5155G>A (p.Asp1719Asn)
12g.51806608G>CCA384883583SCN8Ac.5122G>C (p.Asp1708His)
c.3186G>C
c.4999G>C (p.Asp1667His)
c.5155G>C (p.Asp1719His)
12g.51806608G>TCA384883577SCN8Ac.5122G>T (p.Asp1708Tyr)
c.3186G>T
c.4999G>T (p.Asp1667Tyr)
c.5155G>T (p.Asp1719Tyr)
12g.51806609A>CCA384883586SCN8Ac.5123A>C (p.Asp1708Ala)
c.3187A>C
c.5000A>C (p.Asp1667Ala)
c.5156A>C (p.Asp1719Ala)
12g.51806609A>GCA384883593SCN8Ac.5123A>G (p.Asp1708Gly)
c.3187A>G
c.5000A>G (p.Asp1667Gly)
c.5156A>G (p.Asp1719Gly)
12g.51806609A>TCA384883587SCN8Ac.5123A>T (p.Asp1708Val)
c.3187A>T
c.5000A>T (p.Asp1667Val)
c.5156A>T (p.Asp1719Val)
12g.51806610T>ACA384883594SCN8Ac.5124T>A (p.Asp1708Glu)
c.3188T>A
c.5001T>A (p.Asp1667Glu)
c.5157T>A (p.Asp1719Glu)
12g.51806610T>CCA480062010SCN8Ac.5124T>C (p.Asp1708=)
c.3188T>C
c.5001T>C (p.Asp1667=)
c.5157T>C (p.Asp1719=)
 dbSNP
12g.51806610T>GCA384883595SCN8Ac.5124T>G (p.Asp1708Glu)
c.3188T>G
c.5001T>G (p.Asp1667Glu)
c.5157T>G (p.Asp1719Glu)
12g.51806610T=CA2036193341SCN8Ac.5124T= (p.Asp1708=)
c.3188T=
c.5001T= (p.Asp1667=)
c.5157T= (p.Asp1719=)
12g.51806611G>ACA384883597SCN8Ac.5125G>A (p.Gly1709Ser)
c.3189G>A
c.5002G>A (p.Gly1668Ser)
c.5158G>A (p.Gly1720Ser)
12g.51806611G>CCA384883607SCN8Ac.5125G>C (p.Gly1709Arg)
c.3189G>C
c.5002G>C (p.Gly1668Arg)
c.5158G>C (p.Gly1720Arg)
12g.51806611G>TCA384883602SCN8Ac.5125G>T (p.Gly1709Cys)
c.3189G>T
c.5002G>T (p.Gly1668Cys)
c.5158G>T (p.Gly1720Cys)
12g.51806612G>ACA384883617SCN8Ac.5126G>A (p.Gly1709Asp)
c.3190G>A
c.5003G>A (p.Gly1668Asp)
c.5159G>A (p.Gly1720Asp)
12g.51806612G>CCA384883638SCN8Ac.5126G>C (p.Gly1709Ala)
c.3190G>C
c.5003G>C (p.Gly1668Ala)
c.5159G>C (p.Gly1720Ala)
12g.51806612G>TCA384883644SCN8Ac.5126G>T (p.Gly1709Val)
c.3190G>T
c.5003G>T (p.Gly1668Val)
c.5159G>T (p.Gly1720Val)
12g.51806613C>ACA480062015SCN8Ac.5127C>A (p.Gly1709=)
c.3191C>A
c.5004C>A (p.Gly1668=)
c.5160C>A (p.Gly1720=)
12g.51806613C>GCA480062018SCN8Ac.5127C>G (p.Gly1709=)
c.3191C>G
c.5004C>G (p.Gly1668=)
c.5160C>G (p.Gly1720=)
12g.51806613C>TCA480062016SCN8Ac.5127C>T (p.Gly1709=)
c.3191C>T
c.5004C>T (p.Gly1668=)
c.5160C>T (p.Gly1720=)
12g.51806614C>ACA384883648SCN8Ac.5128C>A (p.Leu1710Met)
c.3192C>A
c.5005C>A (p.Leu1669Met)
c.5161C>A (p.Leu1721Met)
12g.51806614C>GCA384883653SCN8Ac.5128C>G (p.Leu1710Val)
c.3192C>G
c.5005C>G (p.Leu1669Val)
c.5161C>G (p.Leu1721Val)
12g.51806614C>TCA480062022SCN8Ac.5128C>T (p.Leu1710=)
c.3192C>T
c.5005C>T (p.Leu1669=)
c.5161C>T (p.Leu1721=)
12g.51806621_51806623delCA2580615202SCN8Ac.5135_5137del (p.Leu1712del)
c.3199_3201del
c.5012_5014del (p.Leu1671del)
c.5168_5170del (p.Leu1723del)
 ClinVar dbSNP
12g.51806615T>ACA384883659SCN8Ac.5129T>A (p.Leu1710Gln)
c.3193T>A
c.5006T>A (p.Leu1669Gln)
c.5162T>A (p.Leu1721Gln)
 COSMIC COSMIC
12g.51806615T>CCA384883661SCN8Ac.5129T>C (p.Leu1710Pro)
c.3193T>C
c.5006T>C (p.Leu1669Pro)
c.5162T>C (p.Leu1721Pro)
12g.51806615T>GCA384883662SCN8Ac.5129T>G (p.Leu1710Arg)
c.3193T>G
c.5006T>G (p.Leu1669Arg)
c.5162T>G (p.Leu1721Arg)
12g.51806616G>ACA480062023SCN8Ac.5130G>A (p.Leu1710=)
c.3194G>A
c.5007G>A (p.Leu1669=)
c.5163G>A (p.Leu1721=)
 gnomAD v4
12g.51806616G>CCA480062025SCN8Ac.5130G>C (p.Leu1710=)
c.3194G>C
c.5007G>C (p.Leu1669=)
c.5163G>C (p.Leu1721=)
12g.51806616G>TCA480062026SCN8Ac.5130G>T (p.Leu1710=)
c.3194G>T
c.5007G>T (p.Leu1669=)
c.5163G>T (p.Leu1721=)
12g.51806617C>ACA384883668SCN8Ac.5131C>A (p.Leu1711Met)
c.3195C>A
c.5008C>A (p.Leu1670Met)
c.5164C>A (p.Leu1722Met)
12g.51806617C=CA2036193346SCN8Ac.5131C= (p.Leu1711=)
c.3195C=
c.5008C= (p.Leu1670=)
c.5164C= (p.Leu1722=)
12g.51806617C>GCA384883669SCN8Ac.5131C>G (p.Leu1711Val)
c.3195C>G
c.5008C>G (p.Leu1670Val)
c.5164C>G (p.Leu1722Val)
12g.51806617C>TCA480062028SCN8Ac.5131C>T (p.Leu1711=)
c.3195C>T
c.5008C>T (p.Leu1670=)
c.5164C>T (p.Leu1722=)
 dbSNP gnomAD v4
12g.51806618T>ACA384883674SCN8Ac.5132T>A (p.Leu1711Gln)
c.3196T>A
c.5009T>A (p.Leu1670Gln)
c.5165T>A (p.Leu1722Gln)
12g.51806618T>CCA384883672SCN8Ac.5132T>C (p.Leu1711Pro)
c.3196T>C
c.5009T>C (p.Leu1670Pro)
c.5165T>C (p.Leu1722Pro)
12g.51806618T>GCA384883670SCN8Ac.5132T>G (p.Leu1711Arg)
c.3196T>G
c.5009T>G (p.Leu1670Arg)
c.5165T>G (p.Leu1722Arg)
12g.51806619G>ACA480062031SCN8Ac.5133G>A (p.Leu1711=)
c.3197G>A
c.5010G>A (p.Leu1670=)
c.5166G>A (p.Leu1722=)
12g.51806619G>CCA480062033SCN8Ac.5133G>C (p.Leu1711=)
c.3197G>C
c.5010G>C (p.Leu1670=)
c.5166G>C (p.Leu1722=)
12g.51806619G>TCA480062034SCN8Ac.5133G>T (p.Leu1711=)
c.3197G>T
c.5010G>T (p.Leu1670=)
c.5166G>T (p.Leu1722=)
 COSMIC COSMIC
12g.51806620C>ACA384883678SCN8Ac.5134C>A (p.Leu1712Met)
c.3198C>A
c.5011C>A (p.Leu1671Met)
c.5167C>A (p.Leu1723Met)
 dbSNP
12g.51806620C=CA2036193352SCN8Ac.5134C= (p.Leu1712=)
c.3198C=
c.5011C= (p.Leu1671=)
c.5167C= (p.Leu1723=)
12g.51806620C>GCA384883683SCN8Ac.5134C>G (p.Leu1712Val)
c.3198C>G
c.5011C>G (p.Leu1671Val)
c.5167C>G (p.Leu1723Val)
12g.51806620C>TCA480062037SCN8Ac.5134C>T (p.Leu1712=)
c.3198C>T
c.5011C>T (p.Leu1671=)
c.5167C>T (p.Leu1723=)
 gnomAD v4
12g.51806621T>ACA384883688SCN8Ac.5135T>A (p.Leu1712Gln)
c.3199T>A
c.5012T>A (p.Leu1671Gln)
c.5168T>A (p.Leu1723Gln)
12g.51806621T>CCA384883690SCN8Ac.5135T>C (p.Leu1712Pro)
c.3199T>C
c.5012T>C (p.Leu1671Pro)
c.5168T>C (p.Leu1723Pro)
12g.51806621T>GCA384883694SCN8Ac.5135T>G (p.Leu1712Arg)
c.3199T>G
c.5012T>G (p.Leu1671Arg)
c.5168T>G (p.Leu1723Arg)
12g.51806622G>ACA480062045SCN8Ac.5136G>A (p.Leu1712=)
c.3200G>A
c.5013G>A (p.Leu1671=)
c.5169G>A (p.Leu1723=)
12g.51806622G>CCA480062042SCN8Ac.5136G>C (p.Leu1712=)
c.3200G>C
c.5013G>C (p.Leu1671=)
c.5169G>C (p.Leu1723=)
12g.51806622G>TCA480062041SCN8Ac.5136G>T (p.Leu1712=)
c.3200G>T
c.5013G>T (p.Leu1671=)
c.5169G>T (p.Leu1723=)
12g.51806623C>ACA384883700SCN8Ac.5137C>A (p.Pro1713Thr)
c.3201C>A
c.5014C>A (p.Pro1672Thr)
c.5170C>A (p.Pro1724Thr)
12g.51806623C>GCA384883702SCN8Ac.5137C>G (p.Pro1713Ala)
c.3201C>G
c.5014C>G (p.Pro1672Ala)
c.5170C>G (p.Pro1724Ala)
12g.51806623C>TCA384883705SCN8Ac.5137C>T (p.Pro1713Ser)
c.3201C>T
c.5014C>T (p.Pro1672Ser)
c.5170C>T (p.Pro1724Ser)
12g.51806624C>ACA384883710SCN8Ac.5138C>A (p.Pro1713His)
c.3202C>A
c.5015C>A (p.Pro1672His)
c.5171C>A (p.Pro1724His)
 ClinVar
12g.51806624C>GCA384883712SCN8Ac.5138C>G (p.Pro1713Arg)
c.3202C>G
c.5015C>G (p.Pro1672Arg)
c.5171C>G (p.Pro1724Arg)
12g.51806624C>TCA384883725SCN8Ac.5138C>T (p.Pro1713Leu)
c.3202C>T
c.5015C>T (p.Pro1672Leu)
c.5171C>T (p.Pro1724Leu)
12g.51806625C>ACA480062047SCN8Ac.5139C>A (p.Pro1713=)
c.3203C>A
c.5016C>A (p.Pro1672=)
c.5172C>A (p.Pro1724=)
 gnomAD v4
12g.51806625C>GCA480062048SCN8Ac.5139C>G (p.Pro1713=)
c.3203C>G
c.5016C>G (p.Pro1672=)
c.5172C>G (p.Pro1724=)
12g.51806625C>TCA480062049SCN8Ac.5139C>T (p.Pro1713=)
c.3203C>T
c.5016C>T (p.Pro1672=)
c.5172C>T (p.Pro1724=)
12g.51806626A>CCA384883756SCN8Ac.5140A>C (p.Ile1714Leu)
c.3204A>C
c.5017A>C (p.Ile1673Leu)
c.5173A>C (p.Ile1725Leu)
12g.51806626A>GCA384883761SCN8Ac.5140A>G (p.Ile1714Val)
c.3204A>G
c.5017A>G (p.Ile1673Val)
c.5173A>G (p.Ile1725Val)
12g.51806626A>TCA384883732SCN8Ac.5140A>T (p.Ile1714Phe)
c.3204A>T
c.5017A>T (p.Ile1673Phe)
c.5173A>T (p.Ile1725Phe)
12g.51806627T>ACA384883766SCN8Ac.5141T>A (p.Ile1714Asn)
c.3205T>A
c.5018T>A (p.Ile1673Asn)
c.5174T>A (p.Ile1725Asn)
12g.51806627T>CCA384883769SCN8Ac.5141T>C (p.Ile1714Thr)
c.3205T>C
c.5018T>C (p.Ile1673Thr)
c.5174T>C (p.Ile1725Thr)
12g.51806627T>GCA384883773SCN8Ac.5141T>G (p.Ile1714Ser)
c.3205T>G
c.5018T>G (p.Ile1673Ser)
c.5174T>G (p.Ile1725Ser)
12g.51806628C>ACA480062056SCN8Ac.5142C>A (p.Ile1714=)
c.3206C>A
c.5019C>A (p.Ile1673=)
c.5175C>A (p.Ile1725=)
12g.51806628C>GCA384883777SCN8Ac.5142C>G (p.Ile1714Met)
c.3206C>G
c.5019C>G (p.Ile1673Met)
c.5175C>G (p.Ile1725Met)
12g.51806628C>TCA480062057SCN8Ac.5142C>T (p.Ile1714=)
c.3206C>T
c.5019C>T (p.Ile1673=)
c.5175C>T (p.Ile1725=)
12g.51806629C>ACA384883785SCN8Ac.5143C>A (p.Leu1715Ile)
c.3207C>A
c.5020C>A (p.Leu1674Ile)
c.5176C>A (p.Leu1726Ile)
12g.51806629C>GCA384883795SCN8Ac.5143C>G (p.Leu1715Val)
c.3207C>G
c.5020C>G (p.Leu1674Val)
c.5176C>G (p.Leu1726Val)
12g.51806629C>TCA480062059SCN8Ac.5143C>T (p.Leu1715=)
c.3207C>T
c.5020C>T (p.Leu1674=)
c.5176C>T (p.Leu1726=)
12g.51806630T>ACA384883807SCN8Ac.5144T>A (p.Leu1715Gln)
c.3208T>A
c.5021T>A (p.Leu1674Gln)
c.5177T>A (p.Leu1726Gln)
12g.51806630T>CCA384883822SCN8Ac.5144T>C (p.Leu1715Pro)
c.3208T>C
c.5021T>C (p.Leu1674Pro)
c.5177T>C (p.Leu1726Pro)
12g.51806630T>GCA384883827SCN8Ac.5144T>G (p.Leu1715Arg)
c.3208T>G
c.5021T>G (p.Leu1674Arg)
c.5177T>G (p.Leu1726Arg)
12g.51806631A=CA2036193362SCN8Ac.5145A= (p.Leu1715=)
c.3209A=
c.5022A= (p.Leu1674=)
c.5178A= (p.Leu1726=)
12g.51806631A>CCA480062061SCN8Ac.5145A>C (p.Leu1715=)
c.3209A>C
c.5022A>C (p.Leu1674=)
c.5178A>C (p.Leu1726=)
12g.51806631A>GCA6571891SCN8Ac.5145A>G (p.Leu1715=)
c.3209A>G
c.5022A>G (p.Leu1674=)
c.5178A>G (p.Leu1726=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806631A>TCA480062066SCN8Ac.5145A>T (p.Leu1715=)
c.3209A>T
c.5022A>T (p.Leu1674=)
c.5178A>T (p.Leu1726=)
12g.51806632A>CCA384883835SCN8Ac.5146A>C (p.Asn1716His)
c.3210A>C
c.5023A>C (p.Asn1675His)
c.5179A>C (p.Asn1727His)
12g.51806632A>GCA384883854SCN8Ac.5146A>G (p.Asn1716Asp)
c.3210A>G
c.5023A>G (p.Asn1675Asp)
c.5179A>G (p.Asn1727Asp)
12g.51806632A>TCA384883858SCN8Ac.5146A>T (p.Asn1716Tyr)
c.3210A>T
c.5023A>T (p.Asn1675Tyr)
c.5179A>T (p.Asn1727Tyr)
12g.51806633A>CCA384883879SCN8Ac.5147A>C (p.Asn1716Thr)
c.3211A>C
c.5024A>C (p.Asn1675Thr)
c.5180A>C (p.Asn1727Thr)
12g.51806633A>GCA384883878SCN8Ac.5147A>G (p.Asn1716Ser)
c.3211A>G
c.5024A>G (p.Asn1675Ser)
c.5180A>G (p.Asn1727Ser)
12g.51806633A>TCA384883872SCN8Ac.5147A>T (p.Asn1716Ile)
c.3211A>T
c.5024A>T (p.Asn1675Ile)
c.5180A>T (p.Asn1727Ile)
12g.51806634C>ACA384883884SCN8Ac.5148C>A (p.Asn1716Lys)
c.3212C>A
c.5025C>A (p.Asn1675Lys)
c.5181C>A (p.Asn1727Lys)
12g.51806634C=CA2036193368SCN8Ac.5148C= (p.Asn1716=)
c.3212C=
c.5025C= (p.Asn1675=)
c.5181C= (p.Asn1727=)
12g.51806634C>GCA384883887SCN8Ac.5148C>G (p.Asn1716Lys)
c.3212C>G
c.5025C>G (p.Asn1675Lys)
c.5181C>G (p.Asn1727Lys)
 dbSNP
12g.51806634C>TCA480062075SCN8Ac.5148C>T (p.Asn1716=)
c.3212C>T
c.5025C>T (p.Asn1675=)
c.5181C>T (p.Asn1727=)
 COSMIC COSMIC
12g.51806635C>ACA384883892SCN8Ac.5149C>A (p.Arg1717Ser)
c.3213C>A
c.5026C>A (p.Arg1676Ser)
c.5182C>A (p.Arg1728Ser)
12g.51806635C=CA2036193373SCN8Ac.5149C= (p.Arg1717=)
c.3213C=
c.5026C= (p.Arg1676=)
c.5182C= (p.Arg1728=)
12g.51806635C>GCA384883895SCN8Ac.5149C>G (p.Arg1717Gly)
c.3213C>G
c.5026C>G (p.Arg1676Gly)
c.5182C>G (p.Arg1728Gly)
 ClinVar dbSNP gnomAD v4
12g.51806635C>TCA384883901SCN8Ac.5149C>T (p.Arg1717Cys)
c.3213C>T
c.5026C>T (p.Arg1676Cys)
c.5182C>T (p.Arg1728Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806636G>ACA6571892SCN8Ac.5150G>A (p.Arg1717His)
c.3214G>A
c.5027G>A (p.Arg1676His)
c.5183G>A (p.Arg1728His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806636G>CCA384883924SCN8Ac.5150G>C (p.Arg1717Pro)
c.3214G>C
c.5027G>C (p.Arg1676Pro)
c.5183G>C (p.Arg1728Pro)
12g.51806636G=CA2036193378SCN8Ac.5150G= (p.Arg1717=)
c.3214G=
c.5027G= (p.Arg1676=)
c.5183G= (p.Arg1728=)
12g.51806636G>TCA384883933SCN8Ac.5150G>T (p.Arg1717Leu)
c.3214G>T
c.5027G>T (p.Arg1676Leu)
c.5183G>T (p.Arg1728Leu)
 dbSNP gnomAD v2 gnomAD v4
12g.51806637C>ACA480062082SCN8Ac.5151C>A (p.Arg1717=)
c.3215C>A
c.5028C>A (p.Arg1676=)
c.5184C>A (p.Arg1728=)
12g.51806637C=CA2036193390SCN8Ac.5151C= (p.Arg1717=)
c.3215C=
c.5028C= (p.Arg1676=)
c.5184C= (p.Arg1728=)
12g.51806637C>GCA480062081SCN8Ac.5151C>G (p.Arg1717=)
c.3215C>G
c.5028C>G (p.Arg1676=)
c.5184C>G (p.Arg1728=)
12g.51806637C>TCA6571893SCN8Ac.5151C>T (p.Arg1717=)
c.3215C>T
c.5028C>T (p.Arg1676=)
c.5184C>T (p.Arg1728=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806642dupCA605238622SCN8Ac.5156dup (p.Asp1720Ter)
c.3220dup
c.5033dup (p.Asp1679Ter)
c.5189dup (p.Asp1731Ter)
 ClinVar dbSNP gnomAD v2
12g.51806641_51806642dupCA2795967144SCN8Ac.5155_5156dup (p.Asp1720LeufsTer5)
c.3219_3220dup
c.5032_5033dup (p.Asp1679LeufsTer5)
c.5188_5189dup (p.Asp1731LeufsTer5)

Number of alleles fetched