Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.85581663G>A | CA347496905 | VAMP8 | c.250G>A (p.Val84Ile) c.*83G>A (n.*83G>A) c.172G>A (p.Val58Ile) | gnomAD v4 |
2 | g.85581663G>C | CA347496906 | VAMP8 | c.250G>C (p.Val84Leu) c.*83G>C (n.*83G>C) c.172G>C (p.Val58Leu) | |
2 | g.85581663G>T | CA347496907 | VAMP8 | c.250G>T (p.Val84Phe) c.*83G>T (n.*83G>T) c.172G>T (p.Val58Phe) | |
2 | g.85581664T>A | CA347496908 | VAMP8 | c.251T>A (p.Val84Asp) c.*84T>A (n.*84T>A) c.173T>A (p.Val58Asp) | |
2 | g.85581664T>C | CA347496909 | VAMP8 | c.251T>C (p.Val84Ala) c.*84T>C (n.*84T>C) c.173T>C (p.Val58Ala) | dbSNP |
2 | g.85581664T>G | CA347496910 | VAMP8 | c.251T>G (p.Val84Gly) c.*84T>G (n.*84T>G) c.173T>G (p.Val58Gly) | |
2 | g.85581664T= | CA1266838032 | VAMP8 | c.251T= (p.Val84=) c.*84T= (n.*84T=) c.173T= (p.Val58=) | |
2 | g.85581665T>A | CA427094923 | VAMP8 | c.252T>A (p.Val84=) c.*85T>A (n.*85T>A) c.174T>A (p.Val58=) | |
2 | g.85581665T>C | CA427094922 | VAMP8 | c.252T>C (p.Val84=) c.*85T>C (n.*85T>C) c.174T>C (p.Val58=) | |
2 | g.85581665T>G | CA427094921 | VAMP8 | c.252T>G (p.Val84=) c.*85T>G (n.*85T>G) c.174T>G (p.Val58=) | |
2 | g.85581666T>A | CA347496911 | VAMP8 | c.253T>A (p.Phe85Ile) c.*86T>A (n.*86T>A) c.175T>A (p.Phe59Ile) | |
2 | g.85581666T>C | CA347496912 | VAMP8 | c.253T>C (p.Phe85Leu) c.*86T>C (n.*86T>C) c.175T>C (p.Phe59Leu) | |
2 | g.85581666T>G | CA347496913 | VAMP8 | c.253T>G (p.Phe85Val) c.*86T>G (n.*86T>G) c.175T>G (p.Phe59Val) | |
2 | g.85581667T>A | CA347496914 | VAMP8 | c.254T>A (p.Phe85Tyr) c.*87T>A (n.*87T>A) c.176T>A (p.Phe59Tyr) | |
2 | g.85581667T>C | CA347496915 | VAMP8 | c.254T>C (p.Phe85Ser) c.*87T>C (n.*87T>C) c.176T>C (p.Phe59Ser) | |
2 | g.85581667T>G | CA347496916 | VAMP8 | c.254T>G (p.Phe85Cys) c.*87T>G (n.*87T>G) c.176T>G (p.Phe59Cys) | |
2 | g.85581668T>A | CA347496917 | VAMP8 | c.255T>A (p.Phe85Leu) c.*88T>A (n.*88T>A) c.177T>A (p.Phe59Leu) | |
2 | g.85581668T>C | CA427094924 | VAMP8 | c.255T>C (p.Phe85=) c.*88T>C (n.*88T>C) c.177T>C (p.Phe59=) | |
2 | g.85581668T>G | CA347496918 | VAMP8 | c.255T>G (p.Phe85Leu) c.*88T>G (n.*88T>G) c.177T>G (p.Phe59Leu) | |
2 | g.85581669del | CA2659858750 | VAMP8 | c.256del (p.Ile86SerfsTer17) c.*89del (n.*89del) c.178del (p.Ile60SerfsTer17) | gnomAD v4 |
2 | g.85581669A>C | CA347496920 | VAMP8 | c.256A>C (p.Ile86Leu) c.*89A>C (n.*89A>C) c.178A>C (p.Ile60Leu) | |
2 | g.85581669A>G | CA347496921 | VAMP8 | c.256A>G (p.Ile86Val) c.*89A>G (n.*89A>G) c.178A>G (p.Ile60Val) | gnomAD v4 |
2 | g.85581669A>T | CA347496919 | VAMP8 | c.256A>T (p.Ile86Phe) c.*89A>T (n.*89A>T) c.178A>T (p.Ile60Phe) | |
2 | g.85581670T>A | CA347496924 | VAMP8 | c.257T>A (p.Ile86Asn) c.*90T>A (n.*90T>A) c.179T>A (p.Ile60Asn) | |
2 | g.85581670T>C | CA347496922 | VAMP8 | c.257T>C (p.Ile86Thr) c.*90T>C (n.*90T>C) c.179T>C (p.Ile60Thr) | |
2 | g.85581670T>G | CA347496923 | VAMP8 | c.257T>G (p.Ile86Ser) c.*90T>G (n.*90T>G) c.179T>G (p.Ile60Ser) | |
2 | g.85581671del | CA2659858751 | VAMP8 | c.258del (p.Ile87SerfsTer16) c.*91del (n.*91del) c.180del (p.Ile61SerfsTer16) | gnomAD v4 |
2 | g.85581671C>A | CA427094926 | VAMP8 | c.258C>A (p.Ile86=) c.*91C>A (n.*91C>A) c.180C>A (p.Ile60=) | |
2 | g.85581671C>G | CA347496925 | VAMP8 | c.258C>G (p.Ile86Met) c.*91C>G (n.*91C>G) c.180C>G (p.Ile60Met) | |
2 | g.85581671C>T | CA427094925 | VAMP8 | c.258C>T (p.Ile86=) c.*91C>T (n.*91C>T) c.180C>T (p.Ile60=) | gnomAD v4 |
2 | g.85581672A= | CA1266838033 | VAMP8 | c.259A= (p.Ile87=) c.*92A= (n.*92A=) c.181A= (p.Ile61=) | |
2 | g.85581672A>C | CA347496926 | VAMP8 | c.259A>C (p.Ile87Leu) c.*92A>C (n.*92A>C) c.181A>C (p.Ile61Leu) | |
2 | g.85581672A>G | CA1742381 | VAMP8 | c.259A>G (p.Ile87Val) c.*92A>G (n.*92A>G) c.181A>G (p.Ile61Val) | dbSNP ExAC |
2 | g.85581672A>T | CA347496927 | VAMP8 | c.259A>T (p.Ile87Phe) c.*92A>T (n.*92A>T) c.181A>T (p.Ile61Phe) | |
2 | g.85581673T>A | CA347496928 | VAMP8 | c.260T>A (p.Ile87Asn) c.*93T>A (n.*93T>A) c.182T>A (p.Ile61Asn) | |
2 | g.85581673T>C | CA347496929 | VAMP8 | c.260T>C (p.Ile87Thr) c.*93T>C (n.*93T>C) c.182T>C (p.Ile61Thr) | |
2 | g.85581673T>G | CA347496930 | VAMP8 | c.260T>G (p.Ile87Ser) c.*93T>G (n.*93T>G) c.182T>G (p.Ile61Ser) | |
2 | g.85581674C>A | CA427094928 | VAMP8 | c.261C>A (p.Ile87=) c.*94C>A (n.*94C>A) c.183C>A (p.Ile61=) | |
2 | g.85581674C>G | CA347496931 | VAMP8 | c.261C>G (p.Ile87Met) c.*94C>G (n.*94C>G) c.183C>G (p.Ile61Met) | |
2 | g.85581674C>T | CA427094927 | VAMP8 | c.261C>T (p.Ile87=) c.*94C>T (n.*94C>T) c.183C>T (p.Ile61=) | gnomAD v4 |
2 | g.85581675A>C | CA347496932 | VAMP8 | c.262A>C (p.Ile88Leu) c.*95A>C (n.*95A>C) c.184A>C (p.Ile62Leu) | |
2 | g.85581675A>G | CA347496933 | VAMP8 | c.262A>G (p.Ile88Val) c.*95A>G (n.*95A>G) c.184A>G (p.Ile62Val) | |
2 | g.85581675A>T | CA347496934 | VAMP8 | c.262A>T (p.Ile88Phe) c.*95A>T (n.*95A>T) c.184A>T (p.Ile62Phe) | |
2 | g.85581676T>A | CA347496935 | VAMP8 | c.263T>A (p.Ile88Asn) c.*96T>A (n.*96T>A) c.185T>A (p.Ile62Asn) | gnomAD v4 |
2 | g.85581676T>C | CA347496937 | VAMP8 | c.263T>C (p.Ile88Thr) c.*96T>C (n.*96T>C) c.185T>C (p.Ile62Thr) | gnomAD v4 |
2 | g.85581676T>G | CA347496936 | VAMP8 | c.263T>G (p.Ile88Ser) c.*96T>G (n.*96T>G) c.185T>G (p.Ile62Ser) | |
2 | g.85581677C>A | CA427094931 | VAMP8 | c.264C>A (p.Ile88=) c.*97C>A (n.*97C>A) c.186C>A (p.Ile62=) | |
2 | g.85581677C>G | CA347496938 | VAMP8 | c.264C>G (p.Ile88Met) c.*97C>G (n.*97C>G) c.186C>G (p.Ile62Met) | |
2 | g.85581677C>T | CA427094930 | VAMP8 | c.264C>T (p.Ile88=) c.*97C>T (n.*97C>T) c.186C>T (p.Ile62=) | |
2 | g.85581678C>A | CA347496939 | VAMP8 | c.265C>A (p.Leu89Ile) c.*98C>A (n.*98C>A) c.187C>A (p.Leu63Ile) | |
2 | g.85581678C>G | CA347496940 | VAMP8 | c.265C>G (p.Leu89Val) c.*98C>G (n.*98C>G) c.187C>G (p.Leu63Val) | |
2 | g.85581678C>T | CA347496941 | VAMP8 | c.265C>T (p.Leu89Phe) c.*98C>T (n.*98C>T) c.187C>T (p.Leu63Phe) | |
2 | g.85581679T>A | CA347496942 | VAMP8 | c.266T>A (p.Leu89His) c.*99T>A (n.*99T>A) c.188T>A (p.Leu63His) | |
2 | g.85581679T>C | CA347496943 | VAMP8 | c.266T>C (p.Leu89Pro) c.*99T>C (n.*99T>C) c.188T>C (p.Leu63Pro) | |
2 | g.85581679T>G | CA347496944 | VAMP8 | c.266T>G (p.Leu89Arg) c.*99T>G (n.*99T>G) c.188T>G (p.Leu63Arg) | |
2 | g.85581680C>A | CA427094933 | VAMP8 | c.267C>A (p.Leu89=) c.*100C>A (n.*100C>A) c.189C>A (p.Leu63=) | |
2 | g.85581680C= | CA1266838034 | VAMP8 | c.267C= (p.Leu89=) c.*100C= (n.*100C=) c.189C= (p.Leu63=) | |
2 | g.85581680C>G | CA427094932 | VAMP8 | c.267C>G (p.Leu89=) c.*100C>G (n.*100C>G) c.189C>G (p.Leu63=) | |
2 | g.85581680C>T | CA1742382 | VAMP8 | c.267C>T (p.Leu89=) c.*100C>T (n.*100C>T) c.189C>T (p.Leu63=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.85581681T>A | CA347496945 | VAMP8 | c.268T>A (p.Phe90Ile) c.*101T>A (n.*101T>A) c.190T>A (p.Phe64Ile) | |
2 | g.85581681T>C | CA347496946 | VAMP8 | c.268T>C (p.Phe90Leu) c.*101T>C (n.*101T>C) c.190T>C (p.Phe64Leu) | |
2 | g.85581681T>G | CA347496947 | VAMP8 | c.268T>G (p.Phe90Val) c.*101T>G (n.*101T>G) c.190T>G (p.Phe64Val) | |
2 | g.85581682T>A | CA347496949 | VAMP8 | c.269T>A (p.Phe90Tyr) c.*102T>A (n.*102T>A) c.191T>A (p.Phe64Tyr) | |
2 | g.85581682T>C | CA347496950 | VAMP8 | c.269T>C (p.Phe90Ser) c.*102T>C (n.*102T>C) c.191T>C (p.Phe64Ser) | |
2 | g.85581682T>G | CA347496948 | VAMP8 | c.269T>G (p.Phe90Cys) c.*102T>G (n.*102T>G) c.191T>G (p.Phe64Cys) | |
2 | g.85581683C>A | CA347496951 | VAMP8 | c.270C>A (p.Phe90Leu) c.*103C>A (n.*103C>A) c.192C>A (p.Phe64Leu) | |
2 | g.85581683C>G | CA347496952 | VAMP8 | c.270C>G (p.Phe90Leu) c.*103C>G (n.*103C>G) c.192C>G (p.Phe64Leu) | |
2 | g.85581683C>T | CA427094934 | VAMP8 | c.270C>T (p.Phe90=) c.*103C>T (n.*103C>T) c.192C>T (p.Phe64=) | |
2 | g.85581684A= | CA1266838035 | VAMP8 | c.271A= (p.Ile91=) c.*104A= (n.*104A=) c.193A= (p.Ile65=) | |
2 | g.85581684A>C | CA347496953 | VAMP8 | c.271A>C (p.Ile91Leu) c.*104A>C (n.*104A>C) c.193A>C (p.Ile65Leu) | |
2 | g.85581684A>G | CA1742383 | VAMP8 | c.271A>G (p.Ile91Val) c.*104A>G (n.*104A>G) c.193A>G (p.Ile65Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.85581684A>T | CA347496955 | VAMP8 | c.271A>T (p.Ile91Phe) c.*104A>T (n.*104A>T) c.193A>T (p.Ile65Phe) | |
2 | g.85581685T>A | CA347496957 | VAMP8 | c.272T>A (p.Ile91Asn) c.*105T>A (n.*105T>A) c.194T>A (p.Ile65Asn) | |
2 | g.85581685T>C | CA347496958 | VAMP8 | c.272T>C (p.Ile91Thr) c.*105T>C (n.*105T>C) c.194T>C (p.Ile65Thr) | gnomAD v4 |
2 | g.85581685T>G | CA347496960 | VAMP8 | c.272T>G (p.Ile91Ser) c.*105T>G (n.*105T>G) c.194T>G (p.Ile65Ser) | |
2 | g.85581686T>A | CA427094936 | VAMP8 | c.273T>A (p.Ile91=) c.*106T>A (n.*106T>A) c.195T>A (p.Ile65=) | |
2 | g.85581686T>C | CA427094935 | VAMP8 | c.273T>C (p.Ile91=) c.*106T>C (n.*106T>C) c.195T>C (p.Ile65=) | gnomAD v4 |
2 | g.85581686T>G | CA347496962 | VAMP8 | c.273T>G (p.Ile91Met) c.*106T>G (n.*106T>G) c.195T>G (p.Ile65Met) | |
2 | g.85581687G>A | CA347496964 | VAMP8 | c.274G>A (p.Val92Met) c.*107G>A (n.*107G>A) c.196G>A (p.Val66Met) | gnomAD v4 |
2 | g.85581687G>C | CA347496966 | VAMP8 | c.274G>C (p.Val92Leu) c.*107G>C (n.*107G>C) c.196G>C (p.Val66Leu) | |
2 | g.85581687G>T | CA347496968 | VAMP8 | c.274G>T (p.Val92Leu) c.*107G>T (n.*107G>T) c.196G>T (p.Val66Leu) | COSMIC |
2 | g.85581688T>A | CA347496973 | VAMP8 | c.275T>A (p.Val92Glu) c.*108T>A (n.*108T>A) c.197T>A (p.Val66Glu) | |
2 | g.85581688T>C | CA51751079 | VAMP8 | c.275T>C (p.Val92Ala) c.*108T>C (n.*108T>C) c.197T>C (p.Val66Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.85581688T>G | CA347496971 | VAMP8 | c.275T>G (p.Val92Gly) c.*108T>G (n.*108T>G) c.197T>G (p.Val66Gly) | COSMIC |
2 | g.85581688T= | CA1266838036 | VAMP8 | c.275T= (p.Val92=) c.*108T= (n.*108T=) c.197T= (p.Val66=) | |
2 | g.85581689G>A | CA427094939 | VAMP8 | c.276G>A (p.Val92=) c.*109G>A (n.*109G>A) c.198G>A (p.Val66=) | |
2 | g.85581689G>C | CA427094938 | VAMP8 | c.276G>C (p.Val92=) c.*109G>C (n.*109G>C) c.198G>C (p.Val66=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.85581689G= | CA1266838037 | VAMP8 | c.276G= (p.Val92=) c.*109G= (n.*109G=) c.198G= (p.Val66=) | |
2 | g.85581689G>T | CA427094937 | VAMP8 | c.276G>T (p.Val92=) c.*109G>T (n.*109G>T) c.198G>T (p.Val66=) | |
2 | g.85581690C>A | CA347496975 | VAMP8 | c.277C>A (p.Leu93Ile) c.*110C>A (n.*110C>A) c.199C>A (p.Leu67Ile) | |
2 | g.85581690C>G | CA347496977 | VAMP8 | c.277C>G (p.Leu93Val) c.*110C>G (n.*110C>G) c.199C>G (p.Leu67Val) | |
2 | g.85581690C>T | CA347496978 | VAMP8 | c.277C>T (p.Leu93Phe) c.*110C>T (n.*110C>T) c.199C>T (p.Leu67Phe) | gnomAD v4 |
2 | g.85581691T>A | CA347496980 | VAMP8 | c.278T>A (p.Leu93His) c.*111T>A (n.*111T>A) c.200T>A (p.Leu67His) | |
2 | g.85581691T>C | CA51751085 | VAMP8 | c.278T>C (p.Leu93Pro) c.*111T>C (n.*111T>C) c.200T>C (p.Leu67Pro) | dbSNP |
2 | g.85581691T>G | CA347496983 | VAMP8 | c.278T>G (p.Leu93Arg) c.*111T>G (n.*111T>G) c.200T>G (p.Leu67Arg) | COSMIC |
2 | g.85581691T= | CA1266838038 | VAMP8 | c.278T= (p.Leu93=) c.*111T= (n.*111T=) c.200T= (p.Leu67=) | |
2 | g.85581692C>A | CA427094942 | VAMP8 | c.279C>A (p.Leu93=) c.*112C>A (n.*112C>A) c.201C>A (p.Leu67=) | |
2 | g.85581692C>G | CA427094941 | VAMP8 | c.279C>G (p.Leu93=) c.*112C>G (n.*112C>G) c.201C>G (p.Leu67=) | |
2 | g.85581692C>T | CA427094940 | VAMP8 | c.279C>T (p.Leu93=) c.*112C>T (n.*112C>T) c.201C>T (p.Leu67=) | |
2 | g.85581693T>A | CA347496988 | VAMP8 | c.280T>A (p.Phe94Ile) c.*113T>A (n.*113T>A) c.202T>A (p.Phe68Ile) | |
2 | g.85581693T>C | CA347496985 | VAMP8 | c.280T>C (p.Phe94Leu) c.*113T>C (n.*113T>C) c.202T>C (p.Phe68Leu) | |
2 | g.85581693T>G | CA347496987 | VAMP8 | c.280T>G (p.Phe94Val) c.*113T>G (n.*113T>G) c.202T>G (p.Phe68Val) | |
2 | g.85581694T>A | CA347496989 | VAMP8 | c.281T>A (p.Phe94Tyr) c.*114T>A (n.*114T>A) c.203T>A (p.Phe68Tyr) | |
2 | g.85581694T>C | CA347496991 | VAMP8 | c.281T>C (p.Phe94Ser) c.*114T>C (n.*114T>C) c.203T>C (p.Phe68Ser) | |
2 | g.85581694T>G | CA347496992 | VAMP8 | c.281T>G (p.Phe94Cys) c.*114T>G (n.*114T>G) c.203T>G (p.Phe68Cys) | |
2 | g.85581695T>A | CA347496994 | VAMP8 | c.282T>A (p.Phe94Leu) c.*115T>A (n.*115T>A) c.204T>A (p.Phe68Leu) | |
2 | g.85581695T>C | CA427094943 | VAMP8 | c.282T>C (p.Phe94=) c.*115T>C (n.*115T>C) c.204T>C (p.Phe68=) | gnomAD v4 |
2 | g.85581695T>G | CA347496996 | VAMP8 | c.282T>G (p.Phe94Leu) c.*115T>G (n.*115T>G) c.204T>G (p.Phe68Leu) | |
2 | g.85581696G>A | CA347497004 | VAMP8 | c.283G>A (p.Ala95Thr) c.*116G>A (n.*116G>A) c.205G>A (p.Ala69Thr) | |
2 | g.85581696G>C | CA347497002 | VAMP8 | c.283G>C (p.Ala95Pro) c.*116G>C (n.*116G>C) c.205G>C (p.Ala69Pro) | |
2 | g.85581696G>T | CA347496999 | VAMP8 | c.283G>T (p.Ala95Ser) c.*116G>T (n.*116G>T) c.205G>T (p.Ala69Ser) | |
2 | g.85581697C>A | CA347497006 | VAMP8 | c.284C>A (p.Ala95Asp) c.*117C>A (n.*117C>A) c.206C>A (p.Ala69Asp) | |
2 | g.85581697C>G | CA347497010 | VAMP8 | c.284C>G (p.Ala95Gly) c.*117C>G (n.*117C>G) c.206C>G (p.Ala69Gly) | |
2 | g.85581697C>T | CA347497008 | VAMP8 | c.284C>T (p.Ala95Val) c.*117C>T (n.*117C>T) c.206C>T (p.Ala69Val) | |
2 | g.85581698C>A | CA427094946 | VAMP8 | c.285C>A (p.Ala95=) c.*118C>A (n.*118C>A) c.207C>A (p.Ala69=) | |
2 | g.85581698C= | CA1266838039 | VAMP8 | c.285C= (p.Ala95=) c.*118C= (n.*118C=) c.207C= (p.Ala69=) | |
2 | g.85581698C>G | CA427094945 | VAMP8 | c.285C>G (p.Ala95=) c.*118C>G (n.*118C>G) c.207C>G (p.Ala69=) | |
2 | g.85581698C>T | CA427094944 | VAMP8 | c.285C>T (p.Ala95=) c.*118C>T (n.*118C>T) c.207C>T (p.Ala69=) | dbSNP |
2 | g.85581699A>C | CA347497012 | VAMP8 | c.286A>C (p.Thr96Pro) c.*119A>C (n.*119A>C) c.208A>C (p.Thr70Pro) | |
2 | g.85581699A>G | CA347497013 | VAMP8 | c.286A>G (p.Thr96Ala) c.*119A>G (n.*119A>G) c.208A>G (p.Thr70Ala) | COSMIC |
2 | g.85581699A>T | CA347497015 | VAMP8 | c.286A>T (p.Thr96Ser) c.*119A>T (n.*119A>T) c.208A>T (p.Thr70Ser) | |
2 | g.85581700C>A | CA347497017 | VAMP8 | c.287C>A (p.Thr96Asn) c.*120C>A (n.*120C>A) c.209C>A (p.Thr70Asn) | |
2 | g.85581700C= | CA1266838040 | VAMP8 | c.287C= (p.Thr96=) c.*120C= (n.*120C=) c.209C= (p.Thr70=) | |
2 | g.85581700C>G | CA347497019 | VAMP8 | c.287C>G (p.Thr96Ser) c.*120C>G (n.*120C>G) c.209C>G (p.Thr70Ser) | |
2 | g.85581700C>T | CA347497020 | VAMP8 | c.287C>T (p.Thr96Ile) c.*120C>T (n.*120C>T) c.209C>T (p.Thr70Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.85581701T>A | CA427094949 | VAMP8 | c.288T>A (p.Thr96=) c.*121T>A (n.*121T>A) c.210T>A (p.Thr70=) | |
2 | g.85581701T>C | CA427094948 | VAMP8 | c.288T>C (p.Thr96=) c.*121T>C (n.*121T>C) c.210T>C (p.Thr70=) | |
2 | g.85581701T>G | CA427094947 | VAMP8 | c.288T>G (p.Thr96=) c.*121T>G (n.*121T>G) c.210T>G (p.Thr70=) | |
2 | g.85581702G>A | CA347497026 | VAMP8 | c.289G>A (p.Gly97Ser) c.*122G>A (n.*122G>A) c.211G>A (p.Gly71Ser) | |
2 | g.85581702G>C | CA347497024 | VAMP8 | c.289G>C (p.Gly97Arg) c.*122G>C (n.*122G>C) c.211G>C (p.Gly71Arg) | |
2 | g.85581702G>T | CA347497023 | VAMP8 | c.289G>T (p.Gly97Cys) c.*122G>T (n.*122G>T) c.211G>T (p.Gly71Cys) | |
2 | g.85581703del | CA2659858752 | VAMP8 | c.290del (p.Gly97ValfsTer6) c.*123del (n.*123del) c.212del (p.Gly71ValfsTer6) | gnomAD v4 |
2 | g.85581703G>A | CA347497028 | VAMP8 | c.290G>A (p.Gly97Asp) c.*123G>A (n.*123G>A) c.212G>A (p.Gly71Asp) | |
2 | g.85581703G>C | CA347497030 | VAMP8 | c.290G>C (p.Gly97Ala) c.*123G>C (n.*123G>C) c.212G>C (p.Gly71Ala) | |
2 | g.85581703G>T | CA347497032 | VAMP8 | c.290G>T (p.Gly97Val) c.*123G>T (n.*123G>T) c.212G>T (p.Gly71Val) | gnomAD v4 |
2 | g.85581704T>A | CA427094952 | VAMP8 | c.291T>A (p.Gly97=) c.*124T>A (n.*124T>A) c.213T>A (p.Gly71=) | |
2 | g.85581704T>C | CA427094951 | VAMP8 | c.291T>C (p.Gly97=) c.*124T>C (n.*124T>C) c.213T>C (p.Gly71=) | |
2 | g.85581704T>G | CA427094950 | VAMP8 | c.291T>G (p.Gly97=) c.*124T>G (n.*124T>G) c.213T>G (p.Gly71=) | |
2 | g.85581705G>A | CA347497033 | VAMP8 | c.292G>A (p.Ala98Thr) c.*125G>A (n.*125G>A) c.214G>A (p.Ala72Thr) | |
2 | g.85581705G>C | CA347497034 | VAMP8 | c.292G>C (p.Ala98Pro) c.*125G>C (n.*125G>C) c.214G>C (p.Ala72Pro) | |
2 | g.85581705G>T | CA347497035 | VAMP8 | c.292G>T (p.Ala98Ser) c.*125G>T (n.*125G>T) c.214G>T (p.Ala72Ser) | |
2 | g.85581706C>A | CA347497045 | VAMP8 | c.293C>A (p.Ala98Asp) c.*126C>A (n.*126C>A) c.215C>A (p.Ala72Asp) | gnomAD v4 |
2 | g.85581706C>G | CA347497048 | VAMP8 | c.293C>G (p.Ala98Gly) c.*126C>G (n.*126C>G) c.215C>G (p.Ala72Gly) | gnomAD v4 |
2 | g.85581706C>T | CA347497046 | VAMP8 | c.293C>T (p.Ala98Val) c.*126C>T (n.*126C>T) c.215C>T (p.Ala72Val) | |
2 | g.85581706_85581711delinsCCTTCT | CA1266838041 | VAMP8 | c.293_298delinsCCTTCT (p.Ala98=) c.*126_*131delinsCCTTCT (n.*126_*131delinsCCTTCT) c.215_220delinsCCTTCT (p.Ala72=) | |
2 | g.85581707C>A | CA427094955 | VAMP8 | c.294C>A (p.Ala98=) c.*127C>A (n.*127C>A) c.216C>A (p.Ala72=) | COSMIC |
2 | g.85581707C>G | CA427094954 | VAMP8 | c.294C>G (p.Ala98=) c.*127C>G (n.*127C>G) c.216C>G (p.Ala72=) | |
2 | g.85581707C>T | CA427094953 | VAMP8 | c.294C>T (p.Ala98=) c.*127C>T (n.*127C>T) c.216C>T (p.Ala72=) | |
2 | g.85581710_85581714del | CA893991024 | VAMP8 | c.297_301del (p.Phe99LeufsTer19) c.*130_*134del (n.*130_*134del) c.219_223del (p.Phe73LeufsTer19) | dbSNP |
2 | g.85581708T>A | CA347497049 | VAMP8 | c.295T>A (p.Phe99Ile) c.*128T>A (n.*128T>A) c.217T>A (p.Phe73Ile) | |
2 | g.85581708T>C | CA347497051 | VAMP8 | c.295T>C (p.Phe99Leu) c.*128T>C (n.*128T>C) c.217T>C (p.Phe73Leu) | |
2 | g.85581708T>G | CA347497053 | VAMP8 | c.295T>G (p.Phe99Val) c.*128T>G (n.*128T>G) c.217T>G (p.Phe73Val) | |
2 | g.85581709del | CA2577021287 | VAMP8 | c.296del (p.Phe99SerfsTer4) c.*129del (n.*129del) c.218del (p.Phe73SerfsTer4) | gnomAD v4 |
2 | g.85581709T>A | CA347497055 | VAMP8 | c.296T>A (p.Phe99Tyr) c.*129T>A (n.*129T>A) c.218T>A (p.Phe73Tyr) | |
2 | g.85581709T>C | CA347497057 | VAMP8 | c.296T>C (p.Phe99Ser) c.*129T>C (n.*129T>C) c.218T>C (p.Phe73Ser) | |
2 | g.85581709T>G | CA347497059 | VAMP8 | c.296T>G (p.Phe99Cys) c.*129T>G (n.*129T>G) c.218T>G (p.Phe73Cys) | |
2 | g.85581710C>A | CA347497061 | VAMP8 | c.297C>A (p.Phe99Leu) c.*130C>A (n.*130C>A) c.219C>A (p.Phe73Leu) | |
2 | g.85581710C>G | CA347497066 | VAMP8 | c.297C>G (p.Phe99Leu) c.*130C>G (n.*130C>G) c.219C>G (p.Phe73Leu) | |
2 | g.85581710C>T | CA427094956 | VAMP8 | c.297C>T (p.Phe99=) c.*130C>T (n.*130C>T) c.219C>T (p.Phe73=) | gnomAD v4 |
2 | g.85581711T>A | CA347497069 | VAMP8 | c.298T>A (p.Ser100Thr) c.*131T>A (n.*131T>A) c.220T>A (p.Ser74Thr) | |
2 | g.85581711T>C | CA347497072 | VAMP8 | c.298T>C (p.Ser100Pro) c.*131T>C (n.*131T>C) c.220T>C (p.Ser74Pro) | |
2 | g.85581711T>G | CA347497074 | VAMP8 | c.298T>G (p.Ser100Ala) c.*131T>G (n.*131T>G) c.220T>G (p.Ser74Ala) | |
2 | g.85581712C>A | CA347497076 | VAMP8 | c.299C>A (p.Ser100Tyr) c.*132C>A (n.*132C>A) c.221C>A (p.Ser74Tyr) | |
2 | g.85581712C>G | CA347497079 | VAMP8 | c.299C>G (p.Ser100Cys) c.*132C>G (n.*132C>G) c.221C>G (p.Ser74Cys) | |
2 | g.85581712C>T | CA347497078 | VAMP8 | c.299C>T (p.Ser100Phe) c.*132C>T (n.*132C>T) c.221C>T (p.Ser74Phe) | |
2 | g.85581713T>A | CA427094959 | VAMP8 | c.300T>A (p.Ser100=) c.*133T>A (n.*133T>A) c.222T>A (p.Ser74=) | |
2 | g.85581713T>C | CA427094958 | VAMP8 | c.300T>C (p.Ser100=) c.*133T>C (n.*133T>C) c.222T>C (p.Ser74=) | |
2 | g.85581713T>G | CA427094957 | VAMP8 | c.300T>G (p.Ser100=) c.*133T>G (n.*133T>G) c.222T>G (p.Ser74=) | |
2 | g.85581714T>A | CA347497080 | VAMP8 | c.301T>A (p.Ter101Lys) c.*134T>A (n.*134T>A) c.223T>A (p.Ter75Lys) | |
2 | g.85581714T>C | CA347497081 | VAMP8 | c.301T>C (p.Ter101Gln) c.*134T>C (n.*134T>C) c.223T>C (p.Ter75Gln) | |
2 | g.85581714T>G | CA347497083 | VAMP8 | c.301T>G (p.Ter101Glu) c.*134T>G (n.*134T>G) c.223T>G (p.Ter75Glu) | |
2 | g.85581715A= | CA1266838042 | VAMP8 | c.302A= (p.Ter101=) c.*135A= (n.*135A=) c.224A= (p.Ter75=) | |
2 | g.85581715A>C | CA347497086 | VAMP8 | c.302A>C (p.Ter101Ser) c.*135A>C (n.*135A>C) c.224A>C (p.Ter75Ser) | |
2 | g.85581715A>G | CA427094960 | VAMP8 | c.302A>G (p.Ter101=) c.*135A>G (n.*135A>G) c.224A>G (p.Ter75=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.85581715A>T | CA347497087 | VAMP8 | c.302A>T (p.Ter101Leu) c.*135A>T (n.*135A>T) c.224A>T (p.Ter75Leu) | |
2 | g.85581716A>C | CA347497088 | VAMP8 | c.303A>C (p.Ter101Tyr) c.*136A>C (n.*136A>C) c.225A>C (p.Ter75Tyr) | |
2 | g.85581716A>G | CA427094961 | VAMP8 | c.303A>G (p.Ter101=) c.*136A>G (n.*136A>G) c.225A>G (p.Ter75=) | |
2 | g.85581716A>T | CA347497089 | VAMP8 | c.303A>T (p.Ter101Tyr) c.*136A>T (n.*136A>T) c.225A>T (p.Ter75Tyr) | gnomAD v4 |
2 | g.85581717G>A | CA2659858753 | VAMP8 | c.*1G>A (n.*1G>A) c.*137G>A (n.*137G>A) | gnomAD v4 |
2 | g.85581724G>A | CA2659858754 | VAMP8 | c.*8G>A (n.*8G>A) c.*144G>A (n.*144G>A) | gnomAD v4 |
2 | g.85581727A= | CA1266838043 | VAMP8 | c.*11A= (n.*11A=) c.*147A= (n.*147A=) | |
2 | g.85581727A>C | CA1266838044 | VAMP8 | c.*11A>C (n.*11A>C) c.*147A>C (n.*147A>C) | dbSNP |
2 | g.85581727A>G | CA1742384 | VAMP8 | c.*11A>G (n.*11A>G) c.*147A>G (n.*147A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.85581728C>A | CA1266838046 | VAMP8 | c.*12C>A (n.*12C>A) c.*148C>A (n.*148C>A) | dbSNP |
2 | g.85581728C= | CA1266838045 | VAMP8 | c.*12C= (n.*12C=) c.*148C= (n.*148C=) | |
2 | g.85581728C>T | CA1742385 | VAMP8 | c.*12C>T (n.*12C>T) c.*148C>T (n.*148C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.85581729C>A | CA2750762499 | VAMP8 | c.*13C>A (n.*13C>A) c.*149C>A (n.*149C>A) | |
2 | g.85581731C= | CA1266838047 | VAMP8 | c.*15C= (n.*15C=) c.*151C= (n.*151C=) | |
2 | g.85581731C>T | CA1266838048 | VAMP8 | c.*15C>T (n.*15C>T) c.*151C>T (n.*151C>T) | dbSNP |
2 | g.85581733C= | CA1266838049 | VAMP8 | c.*17C= (n.*17C=) c.*153C= (n.*153C=) | |
2 | g.85581733C>T | CA1266838050 | VAMP8 | c.*17C>T (n.*17C>T) c.*153C>T (n.*153C>T) | dbSNP gnomAD v4 |
2 | g.85581737C= | CA1266838051 | VAMP8 | c.*21C= (n.*21C=) c.*157C= (n.*157C=) | |
2 | g.85581737C>T | CA1266838052 | VAMP8 | c.*21C>T (n.*21C>T) c.*157C>T (n.*157C>T) | dbSNP |
2 | g.85581738C= | CA1266838054 | VAMP8 | c.*22C= (n.*22C=) c.*158C= (n.*158C=) | |
2 | g.85581738C>T | CA1266838053 | VAMP8 | c.*22C>T (n.*22C>T) c.*158C>T (n.*158C>T) | dbSNP |
2 | g.85581739_85581748delinsTGCCCTTCTC | CA1266838055 | VAMP8 | c.*23_*32delinsTGCCCTTCTC (n.*23_*32delinsTGCCCTTCTC) c.*159_*168delinsTGCCCTTCTC (n.*159_*168delinsTGCCCTTCTC) | |
2 | g.85581740_85581741delinsGC | CA1266838056 | VAMP8 | c.*24_*25delinsGC (n.*24_*25delinsGC) c.*160_*161delinsGC (n.*160_*161delinsGC) | |
2 | g.85581740_85581748del | CA893991052 | VAMP8 | c.*24_*32del (n.*24_*32del) c.*160_*168del (n.*160_*168del) | dbSNP |
2 | g.85581743del | CA1742386 | VAMP8 | c.*27del (n.*27del) c.*163del (n.*163del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.85581742C= | CA1266838057 | VAMP8 | c.*26C= (n.*26C=) c.*162C= (n.*162C=) | |
2 | g.85581742C>T | CA1742387 | VAMP8 | c.*26C>T (n.*26C>T) c.*162C>T (n.*162C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.85581743C>T | CA2659858755 | VAMP8 | c.*27C>T (n.*27C>T) c.*163C>T (n.*163C>T) | gnomAD v4 |
2 | g.85581744T>C | CA1742388 | VAMP8 | c.*28T>C (n.*28T>C) c.*164T>C (n.*164T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.85581744T>G | CA534179761 | VAMP8 | c.*28T>G (n.*28T>G) c.*164T>G (n.*164T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.85581744T= | CA1266838058 | VAMP8 | c.*28T= (n.*28T=) c.*164T= (n.*164T=) | |
2 | g.85581748C>A | CA2581833757 | VAMP8 | c.*32C>A (n.*32C>A) c.*168C>A (n.*168C>A) | |
2 | g.85581748C= | CA1266838059 | VAMP8 | c.*32C= (n.*32C=) c.*168C= (n.*168C=) | |
2 | g.85581748C>G | CA2581833756 | VAMP8 | c.*32C>G (n.*32C>G) c.*168C>G (n.*168C>G) | |
2 | g.85581748C>T | CA1742389 | VAMP8 | c.*32C>T (n.*32C>T) c.*168C>T (n.*168C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.85581749T>C | CA893991063 | VAMP8 | c.*33T>C (n.*33T>C) c.*169T>C (n.*169T>C) | dbSNP |
2 | g.85581749T= | CA1266838060 | VAMP8 | c.*33T= (n.*33T=) c.*169T= (n.*169T=) | |
2 | g.85581751C>A | CA2659858756 | VAMP8 | c.*35C>A (n.*35C>A) c.*171C>A (n.*171C>A) | gnomAD v4 |
2 | g.85581751C= | CA1266838061 | VAMP8 | c.*35C= (n.*35C=) c.*171C= (n.*171C=) | |
2 | g.85581751C>G | CA1742390 | VAMP8 | c.*35C>G (n.*35C>G) c.*171C>G (n.*171C>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.85581753G>A | CA2511233325 | VAMP8 | c.*37G>A (n.*37G>A) c.*173G>A (n.*173G>A) | |
2 | g.85581754G>A | CA893991064 | VAMP8 | c.*38G>A (n.*38G>A) c.*174G>A (n.*174G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.85581754G= | CA1266838062 | VAMP8 | c.*38G= (n.*38G=) c.*174G= (n.*174G=) | |
2 | g.85581755G>C | CA893991065 | VAMP8 | c.*39G>C (n.*39G>C) c.*175G>C (n.*175G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.85581755G= | CA1266838063 | VAMP8 | c.*39G= (n.*39G=) c.*175G= (n.*175G=) | |
2 | g.85581756A= | CA1266838064 | VAMP8 | c.*40A= (n.*40A=) c.*176A= (n.*176A=) | |
2 | g.85581756A>G | CA534179767 | VAMP8 | c.*40A>G (n.*40A>G) c.*176A>G (n.*176A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.85581756A>T | CA1742391 | VAMP8 | c.*40A>T (n.*40A>T) c.*176A>T (n.*176A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.85581757C= | CA1266838065 | VAMP8 | c.*41C= (n.*41C=) c.*177C= (n.*177C=) | |
2 | g.85581757C>T | CA1742392 | VAMP8 | c.*41C>T (n.*41C>T) c.*177C>T (n.*177C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.85581758A= | CA1266838066 | VAMP8 | c.*42A= (n.*42A=) c.*178A= (n.*178A=) | |
2 | g.85581758A>C | CA534179773 | VAMP8 | c.*42A>C (n.*42A>C) c.*178A>C (n.*178A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.85581759A= | CA1266838067 | VAMP8 | c.*43A= (n.*43A=) c.*179A= (n.*179A=) | |
2 | g.85581759A>G | CA51751110 | VAMP8 | c.*43A>G (n.*43A>G) c.*179A>G (n.*179A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.85581760C>A | CA2659858757 | VAMP8 | c.*44C>A (n.*44C>A) c.*180C>A (n.*180C>A) | gnomAD v4 |
2 | g.85581760C= | CA1266838068 | VAMP8 | c.*44C= (n.*44C=) c.*180C= (n.*180C=) | |
2 | g.85581760C>T | CA1266838069 | VAMP8 | c.*44C>T (n.*44C>T) c.*180C>T (n.*180C>T) | dbSNP gnomAD v4 |
2 | g.85581761C= | CA1266838070 | VAMP8 | c.*45C= (n.*45C=) c.*181C= (n.*181C=) | |
2 | g.85581761C>G | CA2659858758 | VAMP8 | c.*45C>G (n.*45C>G) c.*181C>G (n.*181C>G) | gnomAD v4 |
2 | g.85581761C>T | CA893991071 | VAMP8 | c.*45C>T (n.*45C>T) c.*181C>T (n.*181C>T) | dbSNP gnomAD v4 |
2 | g.85581762C>A | CA2659858759 | VAMP8 | c.*46C>A (n.*46C>A) c.*182C>A (n.*182C>A) | gnomAD v4 |
2 | g.85581762C>G | CA2659858760 | VAMP8 | c.*46C>G (n.*46C>G) c.*182C>G (n.*182C>G) | gnomAD v4 |
2 | g.85581763T>A | CA2577021288 | VAMP8 | c.*47T>A (n.*47T>A) c.*183T>A (n.*183T>A) | |
2 | g.85581763T>C | CA1033059369 | VAMP8 | c.*47T>C (n.*47T>C) c.*183T>C (n.*183T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.85581763T= | CA1266838071 | VAMP8 | c.*47T= (n.*47T=) c.*183T= (n.*183T=) |