Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.85581663G>ACA347496905VAMP8c.250G>A (p.Val84Ile)
c.*83G>A (n.*83G>A)
c.172G>A (p.Val58Ile)
gnomAD v4
2g.85581663G>CCA347496906VAMP8c.250G>C (p.Val84Leu)
c.*83G>C (n.*83G>C)
c.172G>C (p.Val58Leu)
2g.85581663G>TCA347496907VAMP8c.250G>T (p.Val84Phe)
c.*83G>T (n.*83G>T)
c.172G>T (p.Val58Phe)
2g.85581664T>ACA347496908VAMP8c.251T>A (p.Val84Asp)
c.*84T>A (n.*84T>A)
c.173T>A (p.Val58Asp)
2g.85581664T>CCA347496909VAMP8c.251T>C (p.Val84Ala)
c.*84T>C (n.*84T>C)
c.173T>C (p.Val58Ala)
dbSNP
2g.85581664T>GCA347496910VAMP8c.251T>G (p.Val84Gly)
c.*84T>G (n.*84T>G)
c.173T>G (p.Val58Gly)
2g.85581664T=CA1266838032VAMP8c.251T= (p.Val84=)
c.*84T= (n.*84T=)
c.173T= (p.Val58=)
2g.85581665T>ACA427094923VAMP8c.252T>A (p.Val84=)
c.*85T>A (n.*85T>A)
c.174T>A (p.Val58=)
2g.85581665T>CCA427094922VAMP8c.252T>C (p.Val84=)
c.*85T>C (n.*85T>C)
c.174T>C (p.Val58=)
2g.85581665T>GCA427094921VAMP8c.252T>G (p.Val84=)
c.*85T>G (n.*85T>G)
c.174T>G (p.Val58=)
2g.85581666T>ACA347496911VAMP8c.253T>A (p.Phe85Ile)
c.*86T>A (n.*86T>A)
c.175T>A (p.Phe59Ile)
2g.85581666T>CCA347496912VAMP8c.253T>C (p.Phe85Leu)
c.*86T>C (n.*86T>C)
c.175T>C (p.Phe59Leu)
2g.85581666T>GCA347496913VAMP8c.253T>G (p.Phe85Val)
c.*86T>G (n.*86T>G)
c.175T>G (p.Phe59Val)
2g.85581667T>ACA347496914VAMP8c.254T>A (p.Phe85Tyr)
c.*87T>A (n.*87T>A)
c.176T>A (p.Phe59Tyr)
2g.85581667T>CCA347496915VAMP8c.254T>C (p.Phe85Ser)
c.*87T>C (n.*87T>C)
c.176T>C (p.Phe59Ser)
2g.85581667T>GCA347496916VAMP8c.254T>G (p.Phe85Cys)
c.*87T>G (n.*87T>G)
c.176T>G (p.Phe59Cys)
2g.85581668T>ACA347496917VAMP8c.255T>A (p.Phe85Leu)
c.*88T>A (n.*88T>A)
c.177T>A (p.Phe59Leu)
2g.85581668T>CCA427094924VAMP8c.255T>C (p.Phe85=)
c.*88T>C (n.*88T>C)
c.177T>C (p.Phe59=)
2g.85581668T>GCA347496918VAMP8c.255T>G (p.Phe85Leu)
c.*88T>G (n.*88T>G)
c.177T>G (p.Phe59Leu)
2g.85581669delCA2659858750VAMP8c.256del (p.Ile86SerfsTer17)
c.*89del (n.*89del)
c.178del (p.Ile60SerfsTer17)
gnomAD v4
2g.85581669A>CCA347496920VAMP8c.256A>C (p.Ile86Leu)
c.*89A>C (n.*89A>C)
c.178A>C (p.Ile60Leu)
2g.85581669A>GCA347496921VAMP8c.256A>G (p.Ile86Val)
c.*89A>G (n.*89A>G)
c.178A>G (p.Ile60Val)
gnomAD v4
2g.85581669A>TCA347496919VAMP8c.256A>T (p.Ile86Phe)
c.*89A>T (n.*89A>T)
c.178A>T (p.Ile60Phe)
2g.85581670T>ACA347496924VAMP8c.257T>A (p.Ile86Asn)
c.*90T>A (n.*90T>A)
c.179T>A (p.Ile60Asn)
2g.85581670T>CCA347496922VAMP8c.257T>C (p.Ile86Thr)
c.*90T>C (n.*90T>C)
c.179T>C (p.Ile60Thr)
2g.85581670T>GCA347496923VAMP8c.257T>G (p.Ile86Ser)
c.*90T>G (n.*90T>G)
c.179T>G (p.Ile60Ser)
2g.85581671delCA2659858751VAMP8c.258del (p.Ile87SerfsTer16)
c.*91del (n.*91del)
c.180del (p.Ile61SerfsTer16)
gnomAD v4
2g.85581671C>ACA427094926VAMP8c.258C>A (p.Ile86=)
c.*91C>A (n.*91C>A)
c.180C>A (p.Ile60=)
2g.85581671C>GCA347496925VAMP8c.258C>G (p.Ile86Met)
c.*91C>G (n.*91C>G)
c.180C>G (p.Ile60Met)
2g.85581671C>TCA427094925VAMP8c.258C>T (p.Ile86=)
c.*91C>T (n.*91C>T)
c.180C>T (p.Ile60=)
gnomAD v4
2g.85581672A=CA1266838033VAMP8c.259A= (p.Ile87=)
c.*92A= (n.*92A=)
c.181A= (p.Ile61=)
2g.85581672A>CCA347496926VAMP8c.259A>C (p.Ile87Leu)
c.*92A>C (n.*92A>C)
c.181A>C (p.Ile61Leu)
2g.85581672A>GCA1742381VAMP8c.259A>G (p.Ile87Val)
c.*92A>G (n.*92A>G)
c.181A>G (p.Ile61Val)
dbSNP ExAC
2g.85581672A>TCA347496927VAMP8c.259A>T (p.Ile87Phe)
c.*92A>T (n.*92A>T)
c.181A>T (p.Ile61Phe)
2g.85581673T>ACA347496928VAMP8c.260T>A (p.Ile87Asn)
c.*93T>A (n.*93T>A)
c.182T>A (p.Ile61Asn)
2g.85581673T>CCA347496929VAMP8c.260T>C (p.Ile87Thr)
c.*93T>C (n.*93T>C)
c.182T>C (p.Ile61Thr)
2g.85581673T>GCA347496930VAMP8c.260T>G (p.Ile87Ser)
c.*93T>G (n.*93T>G)
c.182T>G (p.Ile61Ser)
2g.85581674C>ACA427094928VAMP8c.261C>A (p.Ile87=)
c.*94C>A (n.*94C>A)
c.183C>A (p.Ile61=)
2g.85581674C>GCA347496931VAMP8c.261C>G (p.Ile87Met)
c.*94C>G (n.*94C>G)
c.183C>G (p.Ile61Met)
2g.85581674C>TCA427094927VAMP8c.261C>T (p.Ile87=)
c.*94C>T (n.*94C>T)
c.183C>T (p.Ile61=)
gnomAD v4
2g.85581675A>CCA347496932VAMP8c.262A>C (p.Ile88Leu)
c.*95A>C (n.*95A>C)
c.184A>C (p.Ile62Leu)
2g.85581675A>GCA347496933VAMP8c.262A>G (p.Ile88Val)
c.*95A>G (n.*95A>G)
c.184A>G (p.Ile62Val)
2g.85581675A>TCA347496934VAMP8c.262A>T (p.Ile88Phe)
c.*95A>T (n.*95A>T)
c.184A>T (p.Ile62Phe)
2g.85581676T>ACA347496935VAMP8c.263T>A (p.Ile88Asn)
c.*96T>A (n.*96T>A)
c.185T>A (p.Ile62Asn)
gnomAD v4
2g.85581676T>CCA347496937VAMP8c.263T>C (p.Ile88Thr)
c.*96T>C (n.*96T>C)
c.185T>C (p.Ile62Thr)
gnomAD v4
2g.85581676T>GCA347496936VAMP8c.263T>G (p.Ile88Ser)
c.*96T>G (n.*96T>G)
c.185T>G (p.Ile62Ser)
2g.85581677C>ACA427094931VAMP8c.264C>A (p.Ile88=)
c.*97C>A (n.*97C>A)
c.186C>A (p.Ile62=)
2g.85581677C>GCA347496938VAMP8c.264C>G (p.Ile88Met)
c.*97C>G (n.*97C>G)
c.186C>G (p.Ile62Met)
2g.85581677C>TCA427094930VAMP8c.264C>T (p.Ile88=)
c.*97C>T (n.*97C>T)
c.186C>T (p.Ile62=)
2g.85581678C>ACA347496939VAMP8c.265C>A (p.Leu89Ile)
c.*98C>A (n.*98C>A)
c.187C>A (p.Leu63Ile)
2g.85581678C>GCA347496940VAMP8c.265C>G (p.Leu89Val)
c.*98C>G (n.*98C>G)
c.187C>G (p.Leu63Val)
2g.85581678C>TCA347496941VAMP8c.265C>T (p.Leu89Phe)
c.*98C>T (n.*98C>T)
c.187C>T (p.Leu63Phe)
2g.85581679T>ACA347496942VAMP8c.266T>A (p.Leu89His)
c.*99T>A (n.*99T>A)
c.188T>A (p.Leu63His)
2g.85581679T>CCA347496943VAMP8c.266T>C (p.Leu89Pro)
c.*99T>C (n.*99T>C)
c.188T>C (p.Leu63Pro)
2g.85581679T>GCA347496944VAMP8c.266T>G (p.Leu89Arg)
c.*99T>G (n.*99T>G)
c.188T>G (p.Leu63Arg)
2g.85581680C>ACA427094933VAMP8c.267C>A (p.Leu89=)
c.*100C>A (n.*100C>A)
c.189C>A (p.Leu63=)
2g.85581680C=CA1266838034VAMP8c.267C= (p.Leu89=)
c.*100C= (n.*100C=)
c.189C= (p.Leu63=)
2g.85581680C>GCA427094932VAMP8c.267C>G (p.Leu89=)
c.*100C>G (n.*100C>G)
c.189C>G (p.Leu63=)
2g.85581680C>TCA1742382VAMP8c.267C>T (p.Leu89=)
c.*100C>T (n.*100C>T)
c.189C>T (p.Leu63=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85581681T>ACA347496945VAMP8c.268T>A (p.Phe90Ile)
c.*101T>A (n.*101T>A)
c.190T>A (p.Phe64Ile)
2g.85581681T>CCA347496946VAMP8c.268T>C (p.Phe90Leu)
c.*101T>C (n.*101T>C)
c.190T>C (p.Phe64Leu)
2g.85581681T>GCA347496947VAMP8c.268T>G (p.Phe90Val)
c.*101T>G (n.*101T>G)
c.190T>G (p.Phe64Val)
2g.85581682T>ACA347496949VAMP8c.269T>A (p.Phe90Tyr)
c.*102T>A (n.*102T>A)
c.191T>A (p.Phe64Tyr)
2g.85581682T>CCA347496950VAMP8c.269T>C (p.Phe90Ser)
c.*102T>C (n.*102T>C)
c.191T>C (p.Phe64Ser)
2g.85581682T>GCA347496948VAMP8c.269T>G (p.Phe90Cys)
c.*102T>G (n.*102T>G)
c.191T>G (p.Phe64Cys)
2g.85581683C>ACA347496951VAMP8c.270C>A (p.Phe90Leu)
c.*103C>A (n.*103C>A)
c.192C>A (p.Phe64Leu)
2g.85581683C>GCA347496952VAMP8c.270C>G (p.Phe90Leu)
c.*103C>G (n.*103C>G)
c.192C>G (p.Phe64Leu)
2g.85581683C>TCA427094934VAMP8c.270C>T (p.Phe90=)
c.*103C>T (n.*103C>T)
c.192C>T (p.Phe64=)
2g.85581684A=CA1266838035VAMP8c.271A= (p.Ile91=)
c.*104A= (n.*104A=)
c.193A= (p.Ile65=)
2g.85581684A>CCA347496953VAMP8c.271A>C (p.Ile91Leu)
c.*104A>C (n.*104A>C)
c.193A>C (p.Ile65Leu)
2g.85581684A>GCA1742383VAMP8c.271A>G (p.Ile91Val)
c.*104A>G (n.*104A>G)
c.193A>G (p.Ile65Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85581684A>TCA347496955VAMP8c.271A>T (p.Ile91Phe)
c.*104A>T (n.*104A>T)
c.193A>T (p.Ile65Phe)
2g.85581685T>ACA347496957VAMP8c.272T>A (p.Ile91Asn)
c.*105T>A (n.*105T>A)
c.194T>A (p.Ile65Asn)
2g.85581685T>CCA347496958VAMP8c.272T>C (p.Ile91Thr)
c.*105T>C (n.*105T>C)
c.194T>C (p.Ile65Thr)
gnomAD v4
2g.85581685T>GCA347496960VAMP8c.272T>G (p.Ile91Ser)
c.*105T>G (n.*105T>G)
c.194T>G (p.Ile65Ser)
2g.85581686T>ACA427094936VAMP8c.273T>A (p.Ile91=)
c.*106T>A (n.*106T>A)
c.195T>A (p.Ile65=)
2g.85581686T>CCA427094935VAMP8c.273T>C (p.Ile91=)
c.*106T>C (n.*106T>C)
c.195T>C (p.Ile65=)
gnomAD v4
2g.85581686T>GCA347496962VAMP8c.273T>G (p.Ile91Met)
c.*106T>G (n.*106T>G)
c.195T>G (p.Ile65Met)
2g.85581687G>ACA347496964VAMP8c.274G>A (p.Val92Met)
c.*107G>A (n.*107G>A)
c.196G>A (p.Val66Met)
gnomAD v4
2g.85581687G>CCA347496966VAMP8c.274G>C (p.Val92Leu)
c.*107G>C (n.*107G>C)
c.196G>C (p.Val66Leu)
2g.85581687G>TCA347496968VAMP8c.274G>T (p.Val92Leu)
c.*107G>T (n.*107G>T)
c.196G>T (p.Val66Leu)
COSMIC
2g.85581688T>ACA347496973VAMP8c.275T>A (p.Val92Glu)
c.*108T>A (n.*108T>A)
c.197T>A (p.Val66Glu)
2g.85581688T>CCA51751079VAMP8c.275T>C (p.Val92Ala)
c.*108T>C (n.*108T>C)
c.197T>C (p.Val66Ala)
dbSNP gnomAD v3 gnomAD v4
2g.85581688T>GCA347496971VAMP8c.275T>G (p.Val92Gly)
c.*108T>G (n.*108T>G)
c.197T>G (p.Val66Gly)
COSMIC
2g.85581688T=CA1266838036VAMP8c.275T= (p.Val92=)
c.*108T= (n.*108T=)
c.197T= (p.Val66=)
2g.85581689G>ACA427094939VAMP8c.276G>A (p.Val92=)
c.*109G>A (n.*109G>A)
c.198G>A (p.Val66=)
2g.85581689G>CCA427094938VAMP8c.276G>C (p.Val92=)
c.*109G>C (n.*109G>C)
c.198G>C (p.Val66=)
dbSNP gnomAD v2 gnomAD v4
2g.85581689G=CA1266838037VAMP8c.276G= (p.Val92=)
c.*109G= (n.*109G=)
c.198G= (p.Val66=)
2g.85581689G>TCA427094937VAMP8c.276G>T (p.Val92=)
c.*109G>T (n.*109G>T)
c.198G>T (p.Val66=)
2g.85581690C>ACA347496975VAMP8c.277C>A (p.Leu93Ile)
c.*110C>A (n.*110C>A)
c.199C>A (p.Leu67Ile)
2g.85581690C>GCA347496977VAMP8c.277C>G (p.Leu93Val)
c.*110C>G (n.*110C>G)
c.199C>G (p.Leu67Val)
2g.85581690C>TCA347496978VAMP8c.277C>T (p.Leu93Phe)
c.*110C>T (n.*110C>T)
c.199C>T (p.Leu67Phe)
gnomAD v4
2g.85581691T>ACA347496980VAMP8c.278T>A (p.Leu93His)
c.*111T>A (n.*111T>A)
c.200T>A (p.Leu67His)
2g.85581691T>CCA51751085VAMP8c.278T>C (p.Leu93Pro)
c.*111T>C (n.*111T>C)
c.200T>C (p.Leu67Pro)
dbSNP
2g.85581691T>GCA347496983VAMP8c.278T>G (p.Leu93Arg)
c.*111T>G (n.*111T>G)
c.200T>G (p.Leu67Arg)
COSMIC
2g.85581691T=CA1266838038VAMP8c.278T= (p.Leu93=)
c.*111T= (n.*111T=)
c.200T= (p.Leu67=)
2g.85581692C>ACA427094942VAMP8c.279C>A (p.Leu93=)
c.*112C>A (n.*112C>A)
c.201C>A (p.Leu67=)
2g.85581692C>GCA427094941VAMP8c.279C>G (p.Leu93=)
c.*112C>G (n.*112C>G)
c.201C>G (p.Leu67=)
2g.85581692C>TCA427094940VAMP8c.279C>T (p.Leu93=)
c.*112C>T (n.*112C>T)
c.201C>T (p.Leu67=)
2g.85581693T>ACA347496988VAMP8c.280T>A (p.Phe94Ile)
c.*113T>A (n.*113T>A)
c.202T>A (p.Phe68Ile)
2g.85581693T>CCA347496985VAMP8c.280T>C (p.Phe94Leu)
c.*113T>C (n.*113T>C)
c.202T>C (p.Phe68Leu)
2g.85581693T>GCA347496987VAMP8c.280T>G (p.Phe94Val)
c.*113T>G (n.*113T>G)
c.202T>G (p.Phe68Val)
2g.85581694T>ACA347496989VAMP8c.281T>A (p.Phe94Tyr)
c.*114T>A (n.*114T>A)
c.203T>A (p.Phe68Tyr)
2g.85581694T>CCA347496991VAMP8c.281T>C (p.Phe94Ser)
c.*114T>C (n.*114T>C)
c.203T>C (p.Phe68Ser)
2g.85581694T>GCA347496992VAMP8c.281T>G (p.Phe94Cys)
c.*114T>G (n.*114T>G)
c.203T>G (p.Phe68Cys)
2g.85581695T>ACA347496994VAMP8c.282T>A (p.Phe94Leu)
c.*115T>A (n.*115T>A)
c.204T>A (p.Phe68Leu)
2g.85581695T>CCA427094943VAMP8c.282T>C (p.Phe94=)
c.*115T>C (n.*115T>C)
c.204T>C (p.Phe68=)
gnomAD v4
2g.85581695T>GCA347496996VAMP8c.282T>G (p.Phe94Leu)
c.*115T>G (n.*115T>G)
c.204T>G (p.Phe68Leu)
2g.85581696G>ACA347497004VAMP8c.283G>A (p.Ala95Thr)
c.*116G>A (n.*116G>A)
c.205G>A (p.Ala69Thr)
2g.85581696G>CCA347497002VAMP8c.283G>C (p.Ala95Pro)
c.*116G>C (n.*116G>C)
c.205G>C (p.Ala69Pro)
2g.85581696G>TCA347496999VAMP8c.283G>T (p.Ala95Ser)
c.*116G>T (n.*116G>T)
c.205G>T (p.Ala69Ser)
2g.85581697C>ACA347497006VAMP8c.284C>A (p.Ala95Asp)
c.*117C>A (n.*117C>A)
c.206C>A (p.Ala69Asp)
2g.85581697C>GCA347497010VAMP8c.284C>G (p.Ala95Gly)
c.*117C>G (n.*117C>G)
c.206C>G (p.Ala69Gly)
2g.85581697C>TCA347497008VAMP8c.284C>T (p.Ala95Val)
c.*117C>T (n.*117C>T)
c.206C>T (p.Ala69Val)
2g.85581698C>ACA427094946VAMP8c.285C>A (p.Ala95=)
c.*118C>A (n.*118C>A)
c.207C>A (p.Ala69=)
2g.85581698C=CA1266838039VAMP8c.285C= (p.Ala95=)
c.*118C= (n.*118C=)
c.207C= (p.Ala69=)
2g.85581698C>GCA427094945VAMP8c.285C>G (p.Ala95=)
c.*118C>G (n.*118C>G)
c.207C>G (p.Ala69=)
2g.85581698C>TCA427094944VAMP8c.285C>T (p.Ala95=)
c.*118C>T (n.*118C>T)
c.207C>T (p.Ala69=)
dbSNP
2g.85581699A>CCA347497012VAMP8c.286A>C (p.Thr96Pro)
c.*119A>C (n.*119A>C)
c.208A>C (p.Thr70Pro)
2g.85581699A>GCA347497013VAMP8c.286A>G (p.Thr96Ala)
c.*119A>G (n.*119A>G)
c.208A>G (p.Thr70Ala)
COSMIC
2g.85581699A>TCA347497015VAMP8c.286A>T (p.Thr96Ser)
c.*119A>T (n.*119A>T)
c.208A>T (p.Thr70Ser)
2g.85581700C>ACA347497017VAMP8c.287C>A (p.Thr96Asn)
c.*120C>A (n.*120C>A)
c.209C>A (p.Thr70Asn)
2g.85581700C=CA1266838040VAMP8c.287C= (p.Thr96=)
c.*120C= (n.*120C=)
c.209C= (p.Thr70=)
2g.85581700C>GCA347497019VAMP8c.287C>G (p.Thr96Ser)
c.*120C>G (n.*120C>G)
c.209C>G (p.Thr70Ser)
2g.85581700C>TCA347497020VAMP8c.287C>T (p.Thr96Ile)
c.*120C>T (n.*120C>T)
c.209C>T (p.Thr70Ile)
dbSNP gnomAD v2 gnomAD v4
2g.85581701T>ACA427094949VAMP8c.288T>A (p.Thr96=)
c.*121T>A (n.*121T>A)
c.210T>A (p.Thr70=)
2g.85581701T>CCA427094948VAMP8c.288T>C (p.Thr96=)
c.*121T>C (n.*121T>C)
c.210T>C (p.Thr70=)
2g.85581701T>GCA427094947VAMP8c.288T>G (p.Thr96=)
c.*121T>G (n.*121T>G)
c.210T>G (p.Thr70=)
2g.85581702G>ACA347497026VAMP8c.289G>A (p.Gly97Ser)
c.*122G>A (n.*122G>A)
c.211G>A (p.Gly71Ser)
2g.85581702G>CCA347497024VAMP8c.289G>C (p.Gly97Arg)
c.*122G>C (n.*122G>C)
c.211G>C (p.Gly71Arg)
2g.85581702G>TCA347497023VAMP8c.289G>T (p.Gly97Cys)
c.*122G>T (n.*122G>T)
c.211G>T (p.Gly71Cys)
2g.85581703delCA2659858752VAMP8c.290del (p.Gly97ValfsTer6)
c.*123del (n.*123del)
c.212del (p.Gly71ValfsTer6)
gnomAD v4
2g.85581703G>ACA347497028VAMP8c.290G>A (p.Gly97Asp)
c.*123G>A (n.*123G>A)
c.212G>A (p.Gly71Asp)
2g.85581703G>CCA347497030VAMP8c.290G>C (p.Gly97Ala)
c.*123G>C (n.*123G>C)
c.212G>C (p.Gly71Ala)
2g.85581703G>TCA347497032VAMP8c.290G>T (p.Gly97Val)
c.*123G>T (n.*123G>T)
c.212G>T (p.Gly71Val)
gnomAD v4
2g.85581704T>ACA427094952VAMP8c.291T>A (p.Gly97=)
c.*124T>A (n.*124T>A)
c.213T>A (p.Gly71=)
2g.85581704T>CCA427094951VAMP8c.291T>C (p.Gly97=)
c.*124T>C (n.*124T>C)
c.213T>C (p.Gly71=)
2g.85581704T>GCA427094950VAMP8c.291T>G (p.Gly97=)
c.*124T>G (n.*124T>G)
c.213T>G (p.Gly71=)
2g.85581705G>ACA347497033VAMP8c.292G>A (p.Ala98Thr)
c.*125G>A (n.*125G>A)
c.214G>A (p.Ala72Thr)
2g.85581705G>CCA347497034VAMP8c.292G>C (p.Ala98Pro)
c.*125G>C (n.*125G>C)
c.214G>C (p.Ala72Pro)
2g.85581705G>TCA347497035VAMP8c.292G>T (p.Ala98Ser)
c.*125G>T (n.*125G>T)
c.214G>T (p.Ala72Ser)
2g.85581706C>ACA347497045VAMP8c.293C>A (p.Ala98Asp)
c.*126C>A (n.*126C>A)
c.215C>A (p.Ala72Asp)
gnomAD v4
2g.85581706C>GCA347497048VAMP8c.293C>G (p.Ala98Gly)
c.*126C>G (n.*126C>G)
c.215C>G (p.Ala72Gly)
gnomAD v4
2g.85581706C>TCA347497046VAMP8c.293C>T (p.Ala98Val)
c.*126C>T (n.*126C>T)
c.215C>T (p.Ala72Val)
2g.85581706_85581711delinsCCTTCTCA1266838041VAMP8c.293_298delinsCCTTCT (p.Ala98=)
c.*126_*131delinsCCTTCT (n.*126_*131delinsCCTTCT)
c.215_220delinsCCTTCT (p.Ala72=)
2g.85581707C>ACA427094955VAMP8c.294C>A (p.Ala98=)
c.*127C>A (n.*127C>A)
c.216C>A (p.Ala72=)
COSMIC
2g.85581707C>GCA427094954VAMP8c.294C>G (p.Ala98=)
c.*127C>G (n.*127C>G)
c.216C>G (p.Ala72=)
2g.85581707C>TCA427094953VAMP8c.294C>T (p.Ala98=)
c.*127C>T (n.*127C>T)
c.216C>T (p.Ala72=)
2g.85581710_85581714delCA893991024VAMP8c.297_301del (p.Phe99LeufsTer19)
c.*130_*134del (n.*130_*134del)
c.219_223del (p.Phe73LeufsTer19)
dbSNP
2g.85581708T>ACA347497049VAMP8c.295T>A (p.Phe99Ile)
c.*128T>A (n.*128T>A)
c.217T>A (p.Phe73Ile)
2g.85581708T>CCA347497051VAMP8c.295T>C (p.Phe99Leu)
c.*128T>C (n.*128T>C)
c.217T>C (p.Phe73Leu)
2g.85581708T>GCA347497053VAMP8c.295T>G (p.Phe99Val)
c.*128T>G (n.*128T>G)
c.217T>G (p.Phe73Val)
2g.85581709delCA2577021287VAMP8c.296del (p.Phe99SerfsTer4)
c.*129del (n.*129del)
c.218del (p.Phe73SerfsTer4)
gnomAD v4
2g.85581709T>ACA347497055VAMP8c.296T>A (p.Phe99Tyr)
c.*129T>A (n.*129T>A)
c.218T>A (p.Phe73Tyr)
2g.85581709T>CCA347497057VAMP8c.296T>C (p.Phe99Ser)
c.*129T>C (n.*129T>C)
c.218T>C (p.Phe73Ser)
2g.85581709T>GCA347497059VAMP8c.296T>G (p.Phe99Cys)
c.*129T>G (n.*129T>G)
c.218T>G (p.Phe73Cys)
2g.85581710C>ACA347497061VAMP8c.297C>A (p.Phe99Leu)
c.*130C>A (n.*130C>A)
c.219C>A (p.Phe73Leu)
2g.85581710C>GCA347497066VAMP8c.297C>G (p.Phe99Leu)
c.*130C>G (n.*130C>G)
c.219C>G (p.Phe73Leu)
2g.85581710C>TCA427094956VAMP8c.297C>T (p.Phe99=)
c.*130C>T (n.*130C>T)
c.219C>T (p.Phe73=)
gnomAD v4
2g.85581711T>ACA347497069VAMP8c.298T>A (p.Ser100Thr)
c.*131T>A (n.*131T>A)
c.220T>A (p.Ser74Thr)
2g.85581711T>CCA347497072VAMP8c.298T>C (p.Ser100Pro)
c.*131T>C (n.*131T>C)
c.220T>C (p.Ser74Pro)
2g.85581711T>GCA347497074VAMP8c.298T>G (p.Ser100Ala)
c.*131T>G (n.*131T>G)
c.220T>G (p.Ser74Ala)
2g.85581712C>ACA347497076VAMP8c.299C>A (p.Ser100Tyr)
c.*132C>A (n.*132C>A)
c.221C>A (p.Ser74Tyr)
2g.85581712C>GCA347497079VAMP8c.299C>G (p.Ser100Cys)
c.*132C>G (n.*132C>G)
c.221C>G (p.Ser74Cys)
2g.85581712C>TCA347497078VAMP8c.299C>T (p.Ser100Phe)
c.*132C>T (n.*132C>T)
c.221C>T (p.Ser74Phe)
2g.85581713T>ACA427094959VAMP8c.300T>A (p.Ser100=)
c.*133T>A (n.*133T>A)
c.222T>A (p.Ser74=)
2g.85581713T>CCA427094958VAMP8c.300T>C (p.Ser100=)
c.*133T>C (n.*133T>C)
c.222T>C (p.Ser74=)
2g.85581713T>GCA427094957VAMP8c.300T>G (p.Ser100=)
c.*133T>G (n.*133T>G)
c.222T>G (p.Ser74=)
2g.85581714T>ACA347497080VAMP8c.301T>A (p.Ter101Lys)
c.*134T>A (n.*134T>A)
c.223T>A (p.Ter75Lys)
2g.85581714T>CCA347497081VAMP8c.301T>C (p.Ter101Gln)
c.*134T>C (n.*134T>C)
c.223T>C (p.Ter75Gln)
2g.85581714T>GCA347497083VAMP8c.301T>G (p.Ter101Glu)
c.*134T>G (n.*134T>G)
c.223T>G (p.Ter75Glu)
2g.85581715A=CA1266838042VAMP8c.302A= (p.Ter101=)
c.*135A= (n.*135A=)
c.224A= (p.Ter75=)
2g.85581715A>CCA347497086VAMP8c.302A>C (p.Ter101Ser)
c.*135A>C (n.*135A>C)
c.224A>C (p.Ter75Ser)
2g.85581715A>GCA427094960VAMP8c.302A>G (p.Ter101=)
c.*135A>G (n.*135A>G)
c.224A>G (p.Ter75=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85581715A>TCA347497087VAMP8c.302A>T (p.Ter101Leu)
c.*135A>T (n.*135A>T)
c.224A>T (p.Ter75Leu)
2g.85581716A>CCA347497088VAMP8c.303A>C (p.Ter101Tyr)
c.*136A>C (n.*136A>C)
c.225A>C (p.Ter75Tyr)
2g.85581716A>GCA427094961VAMP8c.303A>G (p.Ter101=)
c.*136A>G (n.*136A>G)
c.225A>G (p.Ter75=)
2g.85581716A>TCA347497089VAMP8c.303A>T (p.Ter101Tyr)
c.*136A>T (n.*136A>T)
c.225A>T (p.Ter75Tyr)
gnomAD v4
2g.85581717G>ACA2659858753VAMP8c.*1G>A (n.*1G>A)
c.*137G>A (n.*137G>A)
gnomAD v4
2g.85581724G>ACA2659858754VAMP8c.*8G>A (n.*8G>A)
c.*144G>A (n.*144G>A)
gnomAD v4
2g.85581727A=CA1266838043VAMP8c.*11A= (n.*11A=)
c.*147A= (n.*147A=)
2g.85581727A>CCA1266838044VAMP8c.*11A>C (n.*11A>C)
c.*147A>C (n.*147A>C)
dbSNP
2g.85581727A>GCA1742384VAMP8c.*11A>G (n.*11A>G)
c.*147A>G (n.*147A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.85581728C>ACA1266838046VAMP8c.*12C>A (n.*12C>A)
c.*148C>A (n.*148C>A)
dbSNP
2g.85581728C=CA1266838045VAMP8c.*12C= (n.*12C=)
c.*148C= (n.*148C=)
2g.85581728C>TCA1742385VAMP8c.*12C>T (n.*12C>T)
c.*148C>T (n.*148C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.85581729C>ACA2750762499VAMP8c.*13C>A (n.*13C>A)
c.*149C>A (n.*149C>A)
2g.85581731C=CA1266838047VAMP8c.*15C= (n.*15C=)
c.*151C= (n.*151C=)
2g.85581731C>TCA1266838048VAMP8c.*15C>T (n.*15C>T)
c.*151C>T (n.*151C>T)
dbSNP
2g.85581733C=CA1266838049VAMP8c.*17C= (n.*17C=)
c.*153C= (n.*153C=)
2g.85581733C>TCA1266838050VAMP8c.*17C>T (n.*17C>T)
c.*153C>T (n.*153C>T)
dbSNP gnomAD v4
2g.85581737C=CA1266838051VAMP8c.*21C= (n.*21C=)
c.*157C= (n.*157C=)
2g.85581737C>TCA1266838052VAMP8c.*21C>T (n.*21C>T)
c.*157C>T (n.*157C>T)
dbSNP
2g.85581738C=CA1266838054VAMP8c.*22C= (n.*22C=)
c.*158C= (n.*158C=)
2g.85581738C>TCA1266838053VAMP8c.*22C>T (n.*22C>T)
c.*158C>T (n.*158C>T)
dbSNP
2g.85581739_85581748delinsTGCCCTTCTCCA1266838055VAMP8c.*23_*32delinsTGCCCTTCTC (n.*23_*32delinsTGCCCTTCTC)
c.*159_*168delinsTGCCCTTCTC (n.*159_*168delinsTGCCCTTCTC)
2g.85581740_85581741delinsGCCA1266838056VAMP8c.*24_*25delinsGC (n.*24_*25delinsGC)
c.*160_*161delinsGC (n.*160_*161delinsGC)
2g.85581740_85581748delCA893991052VAMP8c.*24_*32del (n.*24_*32del)
c.*160_*168del (n.*160_*168del)
dbSNP
2g.85581743delCA1742386VAMP8c.*27del (n.*27del)
c.*163del (n.*163del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85581742C=CA1266838057VAMP8c.*26C= (n.*26C=)
c.*162C= (n.*162C=)
2g.85581742C>TCA1742387VAMP8c.*26C>T (n.*26C>T)
c.*162C>T (n.*162C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85581743C>TCA2659858755VAMP8c.*27C>T (n.*27C>T)
c.*163C>T (n.*163C>T)
gnomAD v4
2g.85581744T>CCA1742388VAMP8c.*28T>C (n.*28T>C)
c.*164T>C (n.*164T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85581744T>GCA534179761VAMP8c.*28T>G (n.*28T>G)
c.*164T>G (n.*164T>G)
dbSNP gnomAD v2 gnomAD v4
2g.85581744T=CA1266838058VAMP8c.*28T= (n.*28T=)
c.*164T= (n.*164T=)
2g.85581748C>ACA2581833757VAMP8c.*32C>A (n.*32C>A)
c.*168C>A (n.*168C>A)
2g.85581748C=CA1266838059VAMP8c.*32C= (n.*32C=)
c.*168C= (n.*168C=)
2g.85581748C>GCA2581833756VAMP8c.*32C>G (n.*32C>G)
c.*168C>G (n.*168C>G)
2g.85581748C>TCA1742389VAMP8c.*32C>T (n.*32C>T)
c.*168C>T (n.*168C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.85581749T>CCA893991063VAMP8c.*33T>C (n.*33T>C)
c.*169T>C (n.*169T>C)
dbSNP
2g.85581749T=CA1266838060VAMP8c.*33T= (n.*33T=)
c.*169T= (n.*169T=)
2g.85581751C>ACA2659858756VAMP8c.*35C>A (n.*35C>A)
c.*171C>A (n.*171C>A)
gnomAD v4
2g.85581751C=CA1266838061VAMP8c.*35C= (n.*35C=)
c.*171C= (n.*171C=)
2g.85581751C>GCA1742390VAMP8c.*35C>G (n.*35C>G)
c.*171C>G (n.*171C>G)
dbSNP ExAC gnomAD v3 gnomAD v4
2g.85581753G>ACA2511233325VAMP8c.*37G>A (n.*37G>A)
c.*173G>A (n.*173G>A)
2g.85581754G>ACA893991064VAMP8c.*38G>A (n.*38G>A)
c.*174G>A (n.*174G>A)
dbSNP gnomAD v3 gnomAD v4
2g.85581754G=CA1266838062VAMP8c.*38G= (n.*38G=)
c.*174G= (n.*174G=)
2g.85581755G>CCA893991065VAMP8c.*39G>C (n.*39G>C)
c.*175G>C (n.*175G>C)
dbSNP gnomAD v3 gnomAD v4
2g.85581755G=CA1266838063VAMP8c.*39G= (n.*39G=)
c.*175G= (n.*175G=)
2g.85581756A=CA1266838064VAMP8c.*40A= (n.*40A=)
c.*176A= (n.*176A=)
2g.85581756A>GCA534179767VAMP8c.*40A>G (n.*40A>G)
c.*176A>G (n.*176A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85581756A>TCA1742391VAMP8c.*40A>T (n.*40A>T)
c.*176A>T (n.*176A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.85581757C=CA1266838065VAMP8c.*41C= (n.*41C=)
c.*177C= (n.*177C=)
2g.85581757C>TCA1742392VAMP8c.*41C>T (n.*41C>T)
c.*177C>T (n.*177C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.85581758A=CA1266838066VAMP8c.*42A= (n.*42A=)
c.*178A= (n.*178A=)
2g.85581758A>CCA534179773VAMP8c.*42A>C (n.*42A>C)
c.*178A>C (n.*178A>C)
dbSNP gnomAD v2 gnomAD v4
2g.85581759A=CA1266838067VAMP8c.*43A= (n.*43A=)
c.*179A= (n.*179A=)
2g.85581759A>GCA51751110VAMP8c.*43A>G (n.*43A>G)
c.*179A>G (n.*179A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.85581760C>ACA2659858757VAMP8c.*44C>A (n.*44C>A)
c.*180C>A (n.*180C>A)
gnomAD v4
2g.85581760C=CA1266838068VAMP8c.*44C= (n.*44C=)
c.*180C= (n.*180C=)
2g.85581760C>TCA1266838069VAMP8c.*44C>T (n.*44C>T)
c.*180C>T (n.*180C>T)
dbSNP gnomAD v4
2g.85581761C=CA1266838070VAMP8c.*45C= (n.*45C=)
c.*181C= (n.*181C=)
2g.85581761C>GCA2659858758VAMP8c.*45C>G (n.*45C>G)
c.*181C>G (n.*181C>G)
gnomAD v4
2g.85581761C>TCA893991071VAMP8c.*45C>T (n.*45C>T)
c.*181C>T (n.*181C>T)
dbSNP gnomAD v4
2g.85581762C>ACA2659858759VAMP8c.*46C>A (n.*46C>A)
c.*182C>A (n.*182C>A)
gnomAD v4
2g.85581762C>GCA2659858760VAMP8c.*46C>G (n.*46C>G)
c.*182C>G (n.*182C>G)
gnomAD v4
2g.85581763T>ACA2577021288VAMP8c.*47T>A (n.*47T>A)
c.*183T>A (n.*183T>A)
2g.85581763T>CCA1033059369VAMP8c.*47T>C (n.*47T>C)
c.*183T>C (n.*183T>C)
dbSNP gnomAD v3 gnomAD v4
2g.85581763T=CA1266838071VAMP8c.*47T= (n.*47T=)
c.*183T= (n.*183T=)

Number of alleles fetched