Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.6224786dupCA2695205939F13A1c.874dup (p.Ala292GlyfsTer7)
c.24dup
c.1036dup (p.Ala346GlyfsTer7)
6g.6224786C>ACA448645850F13A1c.873G>T (p.Ser291=)
c.23G>T
c.1035G>T (p.Ser345=)
6g.6224786C=CA1607987865F13A1c.873G= (p.Ser291=)
c.23G=
c.1035G= (p.Ser345=)
6g.6224786C>GCA448645851F13A1c.873G>C (p.Ser291=)
c.23G>C
c.1035G>C (p.Ser345=)
gnomAD v4
6g.6224786C>TCA3624522F13A1c.873G>A (p.Ser291=)
c.23G>A
c.1035G>A (p.Ser345=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6224787G>ACA362740072F13A1c.872C>T (p.Ser291Leu)
c.22C>T
c.1034C>T (p.Ser345Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6224787G>CCA362740071F13A1c.872C>G (p.Ser291Trp)
c.22C>G
c.1034C>G (p.Ser345Trp)
ClinVar
6g.6224787G=CA1607987866F13A1c.872C= (p.Ser291=)
c.22C=
c.1034C= (p.Ser345=)
6g.6224787G>TCA362740070F13A1c.872C>A (p.Ser291Ter)
c.22C>A
c.1034C>A (p.Ser345Ter)
6g.6224788A>CCA362740075F13A1c.871T>G (p.Ser291Ala)
c.21T>G
c.1033T>G (p.Ser345Ala)
6g.6224788A>GCA362740073F13A1c.871T>C (p.Ser291Pro)
c.21T>C
c.1033T>C (p.Ser345Pro)
6g.6224788A>TCA362740074F13A1c.871T>A (p.Ser291Thr)
c.21T>A
c.1033T>A (p.Ser345Thr)
6g.6224789T>ACA448645852F13A1c.870A>T (p.Pro290=)
c.20A>T
c.1032A>T (p.Pro344=)
6g.6224789T>CCA448645853F13A1c.870A>G (p.Pro290=)
c.20A>G
c.1032A>G (p.Pro344=)
6g.6224789T>GCA448645854F13A1c.870A>C (p.Pro290=)
c.20A>C
c.1032A>C (p.Pro344=)
6g.6224790G>ACA362740076F13A1c.869C>T (p.Pro290Leu)
c.19C>T
c.1031C>T (p.Pro344Leu)
gnomAD v4 COSMIC
6g.6224790G>CCA362740077F13A1c.869C>G (p.Pro290Arg)
c.19C>G
c.1031C>G (p.Pro344Arg)
gnomAD v4
6g.6224790G=CA1607987867F13A1c.869C= (p.Pro290=)
c.19C=
c.1031C= (p.Pro344=)
6g.6224790G>TCA3624523F13A1c.869C>A (p.Pro290Gln)
c.19C>A
c.1031C>A (p.Pro344Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6224795dupCA2695205940F13A1c.869dup (p.Ser291IlefsTer8)
c.19dup
c.1031dup (p.Ser345IlefsTer8)
6g.6224795delCA448645855F13A1c.869del (p.Pro290HisfsTer?)
c.19del
c.1031del (p.Pro344HisfsTer?)
COSMIC
6g.6224791G>ACA362740078F13A1c.868C>T (p.Pro290Ser)
c.18C>T
c.1030C>T (p.Pro344Ser)
6g.6224791G>CCA3624524F13A1c.868C>G (p.Pro290Ala)
c.18C>G
c.1030C>G (p.Pro344Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6224791G=CA1607987868F13A1c.868C= (p.Pro290=)
c.18C=
c.1030C= (p.Pro344=)
6g.6224791G>TCA362740079F13A1c.868C>A (p.Pro290Thr)
c.18C>A
c.1030C>A (p.Pro344Thr)
6g.6224792G>ACA448645856F13A1c.867C>T (p.Pro289=)
c.17C>T
c.1029C>T (p.Pro343=)
gnomAD v4
6g.6224792G>CCA448645857F13A1c.867C>G (p.Pro289=)
c.17C>G
c.1029C>G (p.Pro343=)
gnomAD v4
6g.6224792G>TCA448645858F13A1c.867C>A (p.Pro289=)
c.17C>A
c.1029C>A (p.Pro343=)
6g.6224793G>ACA362740080F13A1c.866C>T (p.Pro289Leu)
c.16C>T
c.1028C>T (p.Pro343Leu)
6g.6224793G>CCA3624525F13A1c.866C>G (p.Pro289Arg)
c.16C>G
c.1028C>G (p.Pro343Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6224793G=CA1607987869F13A1c.866C= (p.Pro289=)
c.16C=
c.1028C= (p.Pro343=)
6g.6224793G>TCA362740081F13A1c.866C>A (p.Pro289His)
c.16C>A
c.1028C>A (p.Pro343His)
gnomAD v4
6g.6224794G>ACA362740082F13A1c.865C>T (p.Pro289Ser)
c.15C>T
c.1027C>T (p.Pro343Ser)
6g.6224794G>CCA362740083F13A1c.865C>G (p.Pro289Ala)
c.15C>G
c.1027C>G (p.Pro343Ala)
6g.6224794G=CA1607987870F13A1c.865C= (p.Pro289=)
c.15C=
c.1027C= (p.Pro343=)
6g.6224794G>TCA3624526F13A1c.865C>A (p.Pro289Thr)
c.15C>A
c.1027C>A (p.Pro343Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6224795G>ACA3624527F13A1c.864C>T (p.Val288=)
c.14C>T
c.1026C>T (p.Val342=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.6224795G>CCA448645859F13A1c.864C>G (p.Val288=)
c.14C>G
c.1026C>G (p.Val342=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6224795G=CA1607987871F13A1c.864C= (p.Val288=)
c.14C=
c.1026C= (p.Val342=)
6g.6224795G>TCA448645860F13A1c.864C>A (p.Val288=)
c.14C>A
c.1026C>A (p.Val342=)
6g.6224796A>CCA362740084F13A1c.863T>G (p.Val288Gly)
c.13T>G
c.1025T>G (p.Val342Gly)
6g.6224796A>GCA362740085F13A1c.863T>C (p.Val288Ala)
c.13T>C
c.1025T>C (p.Val342Ala)
6g.6224796A>TCA362740086F13A1c.863T>A (p.Val288Asp)
c.13T>A
c.1025T>A (p.Val342Asp)
COSMIC
6g.6224797C>ACA362740087F13A1c.862G>T (p.Val288Phe)
c.12G>T
c.1024G>T (p.Val342Phe)
6g.6224797C=CA1607987872F13A1c.862G= (p.Val288=)
c.12G=
c.1024G= (p.Val342=)
6g.6224797C>GCA362740088F13A1c.862G>C (p.Val288Leu)
c.12G>C
c.1024G>C (p.Val342Leu)
6g.6224797C>TCA3624528F13A1c.862G>A (p.Val288Ile)
c.12G>A
c.1024G>A (p.Val342Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6224798G>ACA3624529F13A1c.861C>T (p.Gly287=)
c.11C>T
c.1023C>T (p.Gly341=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6224798G>CCA448645862F13A1c.861C>G (p.Gly287=)
c.11C>G
c.1023C>G (p.Gly341=)
COSMIC
6g.6224798G=CA1607987873F13A1c.861C= (p.Gly287=)
c.11C=
c.1023C= (p.Gly341=)
6g.6224798G>TCA448645861F13A1c.861C>A (p.Gly287=)
c.11C>A
c.1023C>A (p.Gly341=)
6g.6224799C>ACA362740089F13A1c.860G>T (p.Gly287Val)
c.10G>T
c.1022G>T (p.Gly341Val)
6g.6224799C=CA1607987874F13A1c.860G= (p.Gly287=)
c.10G=
c.1022G= (p.Gly341=)
6g.6224799C>GCA362740090F13A1c.860G>C (p.Gly287Ala)
c.10G>C
c.1022G>C (p.Gly341Ala)
6g.6224799C>TCA134391472F13A1c.860G>A (p.Gly287Asp)
c.10G>A
c.1022G>A (p.Gly341Asp)
dbSNP
6g.6224800_6224801insCCCCA2695205941F13A1c.860_861insGGG (p.Gly287_Val288insGly)
c.10_11insGGG
c.1022_1023insGGG (p.Gly341_Val342insGly)
6g.6224800C>ACA362740091F13A1c.859G>T (p.Gly287Cys)
c.9G>T
c.1021G>T (p.Gly341Cys)
6g.6224800C>GCA362740092F13A1c.859G>C (p.Gly287Arg)
c.9G>C
c.1021G>C (p.Gly341Arg)
6g.6224800C>TCA362740093F13A1c.859G>A (p.Gly287Ser)
c.9G>A
c.1021G>A (p.Gly341Ser)
6g.6224801A=CA1607987875F13A1c.858T= (p.Tyr286=)
c.8T=
c.1020T= (p.Tyr340=)
6g.6224801A>CCA362740095F13A1c.858T>G (p.Tyr286Ter)
c.8T>G
c.1020T>G (p.Tyr340Ter)
6g.6224801A>GCA134391473F13A1c.858T>C (p.Tyr286=)
c.8T>C
c.1020T>C (p.Tyr340=)
dbSNP gnomAD v2 gnomAD v4
6g.6224801A>TCA362740094F13A1c.858T>A (p.Tyr286Ter)
c.8T>A
c.1020T>A (p.Tyr340Ter)
COSMIC
6g.6224802T>ACA362740096F13A1c.857A>T (p.Tyr286Phe)
c.7A>T
c.1019A>T (p.Tyr340Phe)
6g.6224802T>CCA3624530F13A1c.857A>G (p.Tyr286Cys)
c.7A>G
c.1019A>G (p.Tyr340Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6224802T>GCA362740097F13A1c.857A>C (p.Tyr286Ser)
c.7A>C
c.1019A>C (p.Tyr340Ser)
6g.6224802T=CA1607987876F13A1c.857A= (p.Tyr286=)
c.7A=
c.1019A= (p.Tyr340=)
6g.6224803A>CCA362740098F13A1c.856T>G (p.Tyr286Asp)
c.6T>G
c.1018T>G (p.Tyr340Asp)
6g.6224803A>GCA362740099F13A1c.856T>C (p.Tyr286His)
c.6T>C
c.1018T>C (p.Tyr340His)
COSMIC
6g.6224803A>TCA362740100F13A1c.856T>A (p.Tyr286Asn)
c.6T>A
c.1018T>A (p.Tyr340Asn)
6g.6224804G>ACA3624531F13A1c.855C>T (p.Ala285=)
c.5C>T
c.1017C>T (p.Ala339=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6224804G>CCA448645864F13A1c.855C>G (p.Ala285=)
c.5C>G
c.1017C>G (p.Ala339=)
6g.6224804G=CA1607987877F13A1c.855C= (p.Ala285=)
c.5C=
c.1017C= (p.Ala339=)
6g.6224804G>TCA448645863F13A1c.855C>A (p.Ala285=)
c.5C>A
c.1017C>A (p.Ala339=)
6g.6224805G>ACA362740103F13A1c.854C>T (p.Ala285Val)
c.4C>T
c.1016C>T (p.Ala339Val)
dbSNP gnomAD v2 gnomAD v4
6g.6224805G>CCA362740101F13A1c.854C>G (p.Ala285Gly)
c.4C>G
c.1016C>G (p.Ala339Gly)
6g.6224805G=CA1607987878F13A1c.854C= (p.Ala285=)
c.4C=
c.1016C= (p.Ala339=)
6g.6224805G>TCA362740102F13A1c.854C>A (p.Ala285Asp)
c.4C>A
c.1016C>A (p.Ala339Asp)
6g.6224806C>ACA362740104F13A1c.853G>T (p.Ala285Ser)
c.3G>T
c.1015G>T (p.Ala339Ser)
6g.6224806C>GCA362740105F13A1c.853G>C (p.Ala285Pro)
c.3G>C
c.1015G>C (p.Ala339Pro)
6g.6224806C>TCA362740106F13A1c.853G>A (p.Ala285Thr)
c.3G>A
c.1015G>A (p.Ala339Thr)
6g.6224807A>CCA362740107F13A1c.852T>G (p.Tyr284Ter)
c.2T>G
c.1014T>G (p.Tyr338Ter)
6g.6224807A>GCA448645865F13A1c.852T>C (p.Tyr284=)
c.2T>C
c.1014T>C (p.Tyr338=)
6g.6224807A>TCA362740108F13A1c.852T>A (p.Tyr284Ter)
c.2T>A
c.1014T>A (p.Tyr338Ter)
6g.6224808T>ACA362740109F13A1c.851A>T (p.Tyr284Phe)
c.1A>T
c.1013A>T (p.Tyr338Phe)
6g.6224808T>CCA126645F13A1c.851A>G (p.Tyr284Cys)
c.1A>G
c.1013A>G (p.Tyr338Cys)
ClinVar dbSNP
6g.6224808T>GCA362740110F13A1c.851A>C (p.Tyr284Ser)
c.1A>C
c.1013A>C (p.Tyr338Ser)
6g.6224808T=CA1607987879F13A1c.851A= (p.Tyr284=)
c.1A=
c.1013A= (p.Tyr338=)
6g.6224809A>CCA362740111F13A1c.850T>G (p.Tyr284Asp)
c.1012T>G (p.Tyr338Asp)
6g.6224809A>GCA362740112F13A1c.850T>C (p.Tyr284His)
c.1012T>C (p.Tyr338His)
6g.6224809A>TCA362740113F13A1c.850T>A (p.Tyr284Asn)
c.1012T>A (p.Tyr338Asn)
6g.6224810G>ACA448645866F13A1c.849C>T (p.Ile283=)
c.1011C>T (p.Ile337=)
gnomAD v4
6g.6224810G>CCA362740114F13A1c.849C>G (p.Ile283Met)
c.1011C>G (p.Ile337Met)
6g.6224810G>TCA448645867F13A1c.849C>A (p.Ile283=)
c.1011C>A (p.Ile337=)
6g.6224811A=CA1607987880F13A1c.848T= (p.Ile283=)
c.1010T= (p.Ile337=)
6g.6224811A>CCA362740115F13A1c.848T>G (p.Ile283Ser)
c.1010T>G (p.Ile337Ser)
gnomAD v4
6g.6224811A>GCA362740116F13A1c.848T>C (p.Ile283Thr)
c.1010T>C (p.Ile337Thr)
dbSNP
6g.6224811A>TCA362740117F13A1c.848T>A (p.Ile283Asn)
c.1010T>A (p.Ile337Asn)
gnomAD v4
6g.6224812T>ACA362740118F13A1c.847A>T (p.Ile283Phe)
c.1009A>T (p.Ile337Phe)
6g.6224812T>CCA362740119F13A1c.847A>G (p.Ile283Val)
c.1009A>G (p.Ile337Val)
gnomAD v4
6g.6224812T>GCA362740120F13A1c.847A>C (p.Ile283Leu)
c.1009A>C (p.Ile337Leu)
6g.6224813A=CA1607987881F13A1c.846T= (p.Asn282=)
c.1008T= (p.Asn336=)
6g.6224813A>CCA362740121F13A1c.846T>G (p.Asn282Lys)
c.1008T>G (p.Asn336Lys)
6g.6224813A>GCA134391474F13A1c.846T>C (p.Asn282=)
c.1008T>C (p.Asn336=)
dbSNP gnomAD v2 gnomAD v4
6g.6224813A>TCA362740122F13A1c.846T>A (p.Asn282Lys)
c.1008T>A (p.Asn336Lys)
6g.6224814T>ACA362740125F13A1c.845A>T (p.Asn282Ile)
c.1007A>T (p.Asn336Ile)
6g.6224814T>CCA362740123F13A1c.845A>G (p.Asn282Ser)
c.1007A>G (p.Asn336Ser)
gnomAD v4
6g.6224814T>GCA362740124F13A1c.845A>C (p.Asn282Thr)
c.1007A>C (p.Asn336Thr)
6g.6224815T>ACA362740126F13A1c.844A>T (p.Asn282Tyr)
c.1006A>T (p.Asn336Tyr)
6g.6224815T>CCA3624532F13A1c.844A>G (p.Asn282Asp)
c.1006A>G (p.Asn336Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6224815T>GCA362740127F13A1c.844A>C (p.Asn282His)
c.1006A>C (p.Asn336His)
6g.6224815T=CA1607987882F13A1c.844A= (p.Asn282=)
c.1006A= (p.Asn336=)
6g.6224816G>ACA134391475F13A1c.843C>T (p.Asp281=)
c.1005C>T (p.Asp335=)
dbSNP gnomAD v4
6g.6224816G>CCA362740128F13A1c.843C>G (p.Asp281Glu)
c.1005C>G (p.Asp335Glu)
6g.6224816G=CA1607987883F13A1c.843C= (p.Asp281=)
c.1005C= (p.Asp335=)
6g.6224816G>TCA362740129F13A1c.843C>A (p.Asp281Glu)
c.1005C>A (p.Asp335Glu)
gnomAD v4
6g.6224817T>ACA362740132F13A1c.842A>T (p.Asp281Val)
c.1004A>T (p.Asp335Val)
6g.6224817T>CCA362740131F13A1c.842A>G (p.Asp281Gly)
c.1004A>G (p.Asp335Gly)
6g.6224817T>GCA362740130F13A1c.842A>C (p.Asp281Ala)
c.1004A>C (p.Asp335Ala)
6g.6224818C>ACA362740133F13A1c.841G>T (p.Asp281Tyr)
c.1003G>T (p.Asp335Tyr)
6g.6224818C>GCA362740134F13A1c.841G>C (p.Asp281His)
c.1003G>C (p.Asp335His)
6g.6224818C>TCA362740135F13A1c.841G>A (p.Asp281Asn)
c.1003G>A (p.Asp335Asn)
gnomAD v4
6g.6224819C>ACA362740136F13A1c.840G>T (p.Trp280Cys)
c.1002G>T (p.Trp334Cys)
6g.6224819C>GCA362740137F13A1c.840G>C (p.Trp280Cys)
c.1002G>C (p.Trp334Cys)
6g.6224819C>TCA362740138F13A1c.840G>A (p.Trp280Ter)
c.1002G>A (p.Trp334Ter)
COSMIC
6g.6224820C>ACA362740141F13A1c.839G>T (p.Trp280Leu)
c.1001G>T (p.Trp334Leu)
6g.6224820C>GCA362740139F13A1c.839G>C (p.Trp280Ser)
c.1001G>C (p.Trp334Ser)
COSMIC
6g.6224820C>TCA362740140F13A1c.839G>A (p.Trp280Ter)
c.1001G>A (p.Trp334Ter)
6g.6224821A>CCA362740142F13A1c.838T>G (p.Trp280Gly)
c.1000T>G (p.Trp334Gly)
6g.6224821A>GCA362740143F13A1c.838T>C (p.Trp280Arg)
c.1000T>C (p.Trp334Arg)
6g.6224821A>TCA362740144F13A1c.838T>A (p.Trp280Arg)
c.1000T>A (p.Trp334Arg)
6g.6224822G>ACA448645868F13A1c.837C>T (p.Ser279=)
c.999C>T (p.Ser333=)
6g.6224822G>CCA448645870F13A1c.837C>G (p.Ser279=)
c.999C>G (p.Ser333=)
6g.6224822G>TCA448645869F13A1c.837C>A (p.Ser279=)
c.999C>A (p.Ser333=)
6g.6224823G>ACA362740145F13A1c.836C>T (p.Ser279Phe)
c.998C>T (p.Ser333Phe)
6g.6224823G>CCA362740146F13A1c.836C>G (p.Ser279Cys)
c.998C>G (p.Ser333Cys)
gnomAD v4
6g.6224823G>TCA362740147F13A1c.836C>A (p.Ser279Tyr)
c.998C>A (p.Ser333Tyr)
6g.6224824A>CCA362740148F13A1c.835T>G (p.Ser279Ala)
c.997T>G (p.Ser333Ala)
6g.6224824A>GCA362740149F13A1c.835T>C (p.Ser279Pro)
c.997T>C (p.Ser333Pro)
6g.6224824A>TCA362740150F13A1c.835T>A (p.Ser279Thr)
c.997T>A (p.Ser333Thr)
gnomAD v4
6g.6224825T>ACA448645871F13A1c.834A>T (p.Gly278=)
c.996A>T (p.Gly332=)
6g.6224825T>CCA448645872F13A1c.834A>G (p.Gly278=)
c.996A>G (p.Gly332=)
6g.6224825T>GCA448645873F13A1c.834A>C (p.Gly278=)
c.996A>C (p.Gly332=)
6g.6224826C>ACA362740151F13A1c.833G>T (p.Gly278Val)
c.995G>T (p.Gly332Val)
6g.6224826C>GCA362740152F13A1c.833G>C (p.Gly278Ala)
c.995G>C (p.Gly332Ala)
gnomAD v4
6g.6224826C>TCA362740153F13A1c.833G>A (p.Gly278Glu)
c.995G>A (p.Gly332Glu)
6g.6224827C>ACA362740154F13A1c.832G>T (p.Gly278Ter)
c.994G>T (p.Gly332Ter)
6g.6224827C>GCA362740156F13A1c.832G>C (p.Gly278Arg)
c.994G>C (p.Gly332Arg)
6g.6224827C>TCA362740155F13A1c.832G>A (p.Gly278Arg)
c.994G>A (p.Gly332Arg)
6g.6224828A=CA1607987884F13A1c.831T= (p.Val277=)
c.993T= (p.Val331=)
6g.6224828A>CCA448645874F13A1c.831T>G (p.Val277=)
c.993T>G (p.Val331=)
6g.6224828A>GCA3624533F13A1c.831T>C (p.Val277=)
c.993T>C (p.Val331=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6224828A>TCA448645875F13A1c.831T>A (p.Val277=)
c.993T>A (p.Val331=)
6g.6224829A=CA1607987885F13A1c.830T= (p.Val277=)
c.992T= (p.Val331=)
6g.6224829A>CCA362740159F13A1c.830T>G (p.Val277Gly)
c.992T>G (p.Val331Gly)
6g.6224829A>GCA362740157F13A1c.830T>C (p.Val277Ala)
c.992T>C (p.Val331Ala)
dbSNP gnomAD v2 gnomAD v4
6g.6224829A>TCA362740158F13A1c.830T>A (p.Val277Asp)
c.992T>A (p.Val331Asp)
6g.6224830C>ACA362740160F13A1c.829G>T (p.Val277Phe)
c.991G>T (p.Val331Phe)
dbSNP gnomAD v4
6g.6224830C=CA1607987886F13A1c.829G= (p.Val277=)
c.991G= (p.Val331=)
6g.6224830C>GCA134391476F13A1c.829G>C (p.Val277Leu)
c.991G>C (p.Val331Leu)
dbSNP gnomAD v2 gnomAD v4
6g.6224830C>TCA362740161F13A1c.829G>A (p.Val277Ile)
c.991G>A (p.Val331Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.6224831G>ACA3624534F13A1c.828C>T (p.Leu276=)
c.990C>T (p.Leu330=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6224831G>CCA448645877F13A1c.828C>G (p.Leu276=)
c.990C>G (p.Leu330=)
gnomAD v4
6g.6224831G=CA1607987887F13A1c.828C= (p.Leu276=)
c.990C= (p.Leu330=)
6g.6224831G>TCA448645876F13A1c.828C>A (p.Leu276=)
c.990C>A (p.Leu330=)
6g.6224832A>CCA362740162F13A1c.827T>G (p.Leu276Arg)
c.989T>G (p.Leu330Arg)
6g.6224832A>GCA362740163F13A1c.827T>C (p.Leu276Pro)
c.989T>C (p.Leu330Pro)
6g.6224832A>TCA362740164F13A1c.827T>A (p.Leu276His)
c.989T>A (p.Leu330His)
6g.6224833G>ACA362740165F13A1c.826C>T (p.Leu276Phe)
c.988C>T (p.Leu330Phe)
ClinVar
6g.6224833G>CCA362740166F13A1c.826C>G (p.Leu276Val)
c.988C>G (p.Leu330Val)
6g.6224833G>TCA362740167F13A1c.826C>A (p.Leu276Ile)
c.988C>A (p.Leu330Ile)
6g.6224834G>ACA448645878F13A1c.825C>T (p.Val275=)
c.987C>T (p.Val329=)
6g.6224834G>CCA448645879F13A1c.825C>G (p.Val275=)
c.987C>G (p.Val329=)
6g.6224834G>TCA448645880F13A1c.825C>A (p.Val275=)
c.987C>A (p.Val329=)
6g.6224835A>CCA362740170F13A1c.824T>G (p.Val275Gly)
c.986T>G (p.Val329Gly)
6g.6224835A>GCA362740168F13A1c.824T>C (p.Val275Ala)
c.986T>C (p.Val329Ala)
6g.6224835A>TCA362740169F13A1c.824T>A (p.Val275Asp)
c.986T>A (p.Val329Asp)
6g.6224836C>ACA362740171F13A1c.823G>T (p.Val275Phe)
c.985G>T (p.Val329Phe)
6g.6224836C>GCA362740172F13A1c.823G>C (p.Val275Leu)
c.985G>C (p.Val329Leu)
6g.6224836C>TCA362740173F13A1c.823G>A (p.Val275Ile)
c.985G>A (p.Val329Ile)
6g.6224837A>CCA448645881F13A1c.822T>G (p.Gly274=)
c.984T>G (p.Gly328=)
gnomAD v4
6g.6224837A>GCA448645882F13A1c.822T>C (p.Gly274=)
c.984T>C (p.Gly328=)
6g.6224837A>TCA448645883F13A1c.822T>A (p.Gly274=)
c.984T>A (p.Gly328=)
6g.6224838C>ACA362740174F13A1c.821G>T (p.Gly274Val)
c.983G>T (p.Gly328Val)
6g.6224838C=CA1607987888F13A1c.821G= (p.Gly274=)
c.983G= (p.Gly328=)
6g.6224838C>GCA362740175F13A1c.821G>C (p.Gly274Ala)
c.983G>C (p.Gly328Ala)
6g.6224838C>TCA362740176F13A1c.821G>A (p.Gly274Asp)
c.983G>A (p.Gly328Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.6224839C>ACA362740177F13A1c.820G>T (p.Gly274Cys)
c.982G>T (p.Gly328Cys)
6g.6224839C>GCA362740178F13A1c.820G>C (p.Gly274Arg)
c.982G>C (p.Gly328Arg)
ClinVar gnomAD v4
6g.6224839C>TCA362740179F13A1c.820G>A (p.Gly274Ser)
c.982G>A (p.Gly328Ser)
COSMIC
6g.6224840T>ACA362740180F13A1c.819A>T (p.Glu273Asp)
c.981A>T (p.Glu327Asp)
6g.6224840T>CCA448645884F13A1c.819A>G (p.Glu273=)
c.981A>G (p.Glu327=)
6g.6224840T>GCA362740181F13A1c.819A>C (p.Glu273Asp)
c.981A>C (p.Glu327Asp)
6g.6224841T>ACA362740184F13A1c.818A>T (p.Glu273Val)
c.980A>T (p.Glu327Val)
6g.6224841T>CCA362740183F13A1c.818A>G (p.Glu273Gly)
c.980A>G (p.Glu327Gly)
6g.6224841T>GCA362740182F13A1c.818A>C (p.Glu273Ala)
c.980A>C (p.Glu327Ala)
6g.6224842C>ACA362740185F13A1c.817G>T (p.Glu273Ter)
c.979G>T (p.Glu327Ter)
6g.6224842C=CA1607987889F13A1c.817G= (p.Glu273=)
c.979G= (p.Glu327=)
6g.6224842C>GCA362740186F13A1c.817G>C (p.Glu273Gln)
c.979G>C (p.Glu327Gln)
6g.6224842C>TCA3624535F13A1c.817G>A (p.Glu273Lys)
c.979G>A (p.Glu327Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.6224843G>ACA3624536F13A1c.816C>T (p.Asp272=)
c.978C>T (p.Asp326=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.6224843G>CCA362740187F13A1c.816C>G (p.Asp272Glu)
c.978C>G (p.Asp326Glu)
6g.6224843G=CA1607987890F13A1c.816C= (p.Asp272=)
c.978C= (p.Asp326=)
6g.6224843G>TCA362740188F13A1c.816C>A (p.Asp272Glu)
c.978C>A (p.Asp326Glu)
6g.6224844T>ACA362740191F13A1c.815A>T (p.Asp272Val)
c.977A>T (p.Asp326Val)
6g.6224844T>CCA362740189F13A1c.815A>G (p.Asp272Gly)
c.977A>G (p.Asp326Gly)
6g.6224844T>GCA362740190F13A1c.815A>C (p.Asp272Ala)
c.977A>C (p.Asp326Ala)
6g.6224846_6224848dupCA826784656F13A1c.813_815dup (p.Asp272_Glu273insAsp)
c.975_977dup (p.Asp326_Glu327insAsp)
dbSNP
6g.6224845C>ACA362740192F13A1c.814G>T (p.Asp272Tyr)
c.976G>T (p.Asp326Tyr)
gnomAD v4
6g.6224845C>GCA362740193F13A1c.814G>C (p.Asp272His)
c.976G>C (p.Asp326His)
6g.6224845C>TCA362740194F13A1c.814G>A (p.Asp272Asn)
c.976G>A (p.Asp326Asn)
6g.6224846A>CCA362740195F13A1c.813T>G (p.Asp271Glu)
c.975T>G (p.Asp325Glu)
gnomAD v4
6g.6224846A>GCA448645885F13A1c.813T>C (p.Asp271=)
c.975T>C (p.Asp325=)
6g.6224846A>TCA362740196F13A1c.813T>A (p.Asp271Glu)
c.975T>A (p.Asp325Glu)
6g.6224847T>ACA362740197F13A1c.812A>T (p.Asp271Val)
c.974A>T (p.Asp325Val)
6g.6224847T>CCA362740199F13A1c.812A>G (p.Asp271Gly)
c.974A>G (p.Asp325Gly)
dbSNP gnomAD v2 gnomAD v4
6g.6224847T>GCA362740198F13A1c.812A>C (p.Asp271Ala)
c.974A>C (p.Asp325Ala)
6g.6224847T=CA1607987891F13A1c.812A= (p.Asp271=)
c.974A= (p.Asp325=)
6g.6224848C>ACA362740200F13A1c.811G>T (p.Asp271Tyr)
c.973G>T (p.Asp325Tyr)
6g.6224848C>GCA362740201F13A1c.811G>C (p.Asp271His)
c.973G>C (p.Asp325His)
6g.6224848C>TCA362740202F13A1c.811G>A (p.Asp271Asn)
c.973G>A (p.Asp325Asn)
6g.6224849T>ACA362740203F13A1c.810A>T (p.Lys270Asn)
c.972A>T (p.Lys324Asn)
6g.6224849T>CCA448645886F13A1c.810A>G (p.Lys270=)
c.972A>G (p.Lys324=)
6g.6224849T>GCA362740204F13A1c.810A>C (p.Lys270Asn)
c.972A>C (p.Lys324Asn)
6g.6224850T>ACA362740205F13A1c.809A>T (p.Lys270Ile)
c.971A>T (p.Lys324Ile)
6g.6224850T>CCA362740206F13A1c.809A>G (p.Lys270Arg)
c.971A>G (p.Lys324Arg)
6g.6224850T>GCA362740207F13A1c.809A>C (p.Lys270Thr)
c.971A>C (p.Lys324Thr)
6g.6224851T>ACA362740208F13A1c.808A>T (p.Lys270Ter)
c.970A>T (p.Lys324Ter)
6g.6224851T>CCA362740209F13A1c.808A>G (p.Lys270Glu)
c.970A>G (p.Lys324Glu)
6g.6224851T>GCA362740210F13A1c.808A>C (p.Lys270Gln)
c.970A>C (p.Lys324Gln)
6g.6224852G>ACA448645887F13A1c.807C>T (p.Ala269=)
c.969C>T (p.Ala323=)
dbSNP gnomAD v2 gnomAD v4
6g.6224852G>CCA448645889F13A1c.807C>G (p.Ala269=)
c.969C>G (p.Ala323=)
6g.6224852G=CA1607987892F13A1c.807C= (p.Ala269=)
c.969C= (p.Ala323=)
6g.6224852G>TCA448645888F13A1c.807C>A (p.Ala269=)
c.969C>A (p.Ala323=)
6g.6224853G>ACA362740212F13A1c.806C>T (p.Ala269Val)
c.968C>T (p.Ala323Val)
COSMIC
6g.6224853G>CCA362740213F13A1c.806C>G (p.Ala269Gly)
c.968C>G (p.Ala323Gly)
6g.6224853G>TCA362740211F13A1c.806C>A (p.Ala269Asp)
c.968C>A (p.Ala323Asp)
6g.6224854C>ACA362740215F13A1c.805G>T (p.Ala269Ser)
c.967G>T (p.Ala323Ser)
6g.6224854C>GCA362740214F13A1c.805G>C (p.Ala269Pro)
c.967G>C (p.Ala323Pro)
6g.6224854C>TCA362740216F13A1c.805G>A (p.Ala269Thr)
c.967G>A (p.Ala323Thr)
6g.6224855A=CA1607987893F13A1c.804T= (p.Asn268=)
c.966T= (p.Asn322=)
6g.6224855A>CCA362740217F13A1c.804T>G (p.Asn268Lys)
c.966T>G (p.Asn322Lys)
6g.6224855A>GCA448645890F13A1c.804T>C (p.Asn268=)
c.966T>C (p.Asn322=)
dbSNP gnomAD v4
6g.6224855A>TCA362740218F13A1c.804T>A (p.Asn268Lys)
c.966T>A (p.Asn322Lys)
dbSNP gnomAD v2 gnomAD v4
6g.6224856T>ACA362740219F13A1c.803A>T (p.Asn268Ile)
c.965A>T (p.Asn322Ile)
6g.6224856T>CCA362740221F13A1c.803A>G (p.Asn268Ser)
c.965A>G (p.Asn322Ser)
6g.6224856T>GCA362740220F13A1c.803A>C (p.Asn268Thr)
c.965A>C (p.Asn322Thr)
6g.6224857T>ACA362740222F13A1c.802A>T (p.Asn268Tyr)
c.964A>T (p.Asn322Tyr)
6g.6224857T>CCA362740223F13A1c.802A>G (p.Asn268Asp)
c.964A>G (p.Asn322Asp)
6g.6224857T>GCA362740224F13A1c.802A>C (p.Asn268His)
c.964A>C (p.Asn322His)
6g.6224858C>ACA448645891F13A1c.801G>T (p.Val267=)
c.963G>T (p.Val321=)
6g.6224858C>GCA448645892F13A1c.801G>C (p.Val267=)
c.963G>C (p.Val321=)
6g.6224858C>TCA448645893F13A1c.801G>A (p.Val267=)
c.963G>A (p.Val321=)
6g.6224859A>CCA362740225F13A1c.800T>G (p.Val267Gly)
c.962T>G (p.Val321Gly)
6g.6224859A>GCA362740226F13A1c.800T>C (p.Val267Ala)
c.962T>C (p.Val321Ala)
gnomAD v4
6g.6224859A>TCA362740227F13A1c.800T>A (p.Val267Glu)
c.962T>A (p.Val321Glu)
6g.6224859_6224860delinsACCA1607987894F13A1c.799_800delinsGT (p.Val267=)
c.961_962delinsGT (p.Val321=)
6g.6224860C>ACA362740228F13A1c.799G>T (p.Val267Leu)
c.961G>T (p.Val321Leu)
6g.6224860C=CA1607987895F13A1c.799G= (p.Val267=)
c.961G= (p.Val321=)
6g.6224860C>GCA362740229F13A1c.799G>C (p.Val267Leu)
c.961G>C (p.Val321Leu)
dbSNP
6g.6224860C>TCA3624537F13A1c.799G>A (p.Val267Met)
c.961G>A (p.Val321Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6224861delCA1085629314F13A1c.799del
c.961del
dbSNP gnomAD v3 gnomAD v4
6g.6224861C>ACA362740230F13A1c.799-1G>T (n.799-1G>T)
c.961-1G>T (n.961-1G>T)
6g.6224861C>GCA362740231F13A1c.799-1G>C (n.799-1G>C)
c.961-1G>C (n.961-1G>C)
6g.6224861C>TCA362740232F13A1c.799-1G>A (n.799-1G>A)
c.961-1G>A (n.961-1G>A)
6g.6224862T>ACA362740235F13A1c.799-2A>T (n.799-2A>T)
c.961-2A>T (n.961-2A>T)
gnomAD v4
6g.6224862T>CCA362740233F13A1c.799-2A>G (n.799-2A>G)
c.961-2A>G (n.961-2A>G)
6g.6224862T>GCA362740234F13A1c.799-2A>C (n.799-2A>C)
c.961-2A>C (n.961-2A>C)
6g.6224865A>GCA2769869643F13A1c.799-5T>C (n.799-5T>C)
c.961-5T>C (n.961-5T>C)
6g.6224866T>CCA3624538F13A1c.799-6A>G (n.799-6A>G)
c.961-6A>G (n.961-6A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6224866T>GCA2677191666F13A1c.799-6A>C (n.799-6A>C)
c.961-6A>C (n.961-6A>C)
gnomAD v4
6g.6224866T=CA1607987896F13A1c.799-6A= (n.799-6A=)
c.961-6A= (n.961-6A=)
6g.6224867G>ACA2677191667F13A1c.799-7C>T (n.799-7C>T)
c.961-7C>T (n.961-7C>T)
gnomAD v4
6g.6224869G>ACA2677191668F13A1c.799-9C>T (n.799-9C>T)
c.961-9C>T (n.961-9C>T)
gnomAD v4
6g.6224871C>ACA134391477F13A1c.799-11G>T (n.799-11G>T)
c.961-11G>T (n.961-11G>T)
dbSNP
6g.6224871C=CA1607987897F13A1c.799-11G= (n.799-11G=)
c.961-11G= (n.961-11G=)
6g.6224872C=CA1607987898F13A1c.799-12G= (n.799-12G=)
c.961-12G= (n.961-12G=)
6g.6224872C>GCA2677191669F13A1c.799-12G>C (n.799-12G>C)
c.961-12G>C (n.961-12G>C)
gnomAD v4
6g.6224872C>TCA3624539F13A1c.799-12G>A (n.799-12G>A)
c.961-12G>A (n.961-12G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6224872_6224879delinsCGTGAGAACA1607987899F13A1c.799-19_799-12delinsTTCTCACG (n.799-19_799-12delinsTTCTCACG)
c.961-19_961-12delinsTTCTCACG (n.961-19_961-12delinsTTCTCACG)
6g.6224873G>ACA3624540F13A1c.799-13C>T (n.799-13C>T)
c.961-13C>T (n.961-13C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.6224873G=CA1607987900F13A1c.799-13C= (n.799-13C=)
c.961-13C= (n.961-13C=)
6g.6224881_6224887delCA565299891F13A1c.799-19_799-13del (n.799-19_799-13del)
c.961-19_961-13del (n.961-19_961-13del)
dbSNP gnomAD v2 gnomAD v4
6g.6224874T>GCA2578522230F13A1c.799-14A>C (n.799-14A>C)
c.961-14A>C (n.961-14A>C)
gnomAD v4
6g.6224879A>CCA2578522231F13A1c.799-19T>G (n.799-19T>G)
c.961-19T>G (n.961-19T>G)
gnomAD v4
6g.6224880G=CA1607987901F13A1c.799-20C= (n.799-20C=)
c.961-20C= (n.961-20C=)
6g.6224880G>TCA3624541F13A1c.799-20C>A (n.799-20C>A)
c.961-20C>A (n.961-20C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6224880_6224881insCTTCCATAACCA917666701F13A1c.799-21_799-20insGTTATGGAAG (n.799-21_799-20insGTTATGGAAG)
c.961-21_961-20insGTTATGGAAG (n.961-21_961-20insGTTATGGAAG)
dbSNP
6g.6224882G=CA1607987902F13A1c.799-22C= (n.799-22C=)
c.961-22C= (n.961-22C=)
6g.6224882_6224883insGGATAAAAATTACA917666702F13A1c.799-23_799-22insTAATTTTTATCC (n.799-23_799-22insTAATTTTTATCC)
c.961-23_961-22insTAATTTTTATCC (n.961-23_961-22insTAATTTTTATCC)
dbSNP
6g.6224883A>GCA2740716312F13A1c.799-23T>C (n.799-23T>C)
c.961-23T>C (n.961-23T>C)
6g.6224884G>ACA2677191670F13A1c.799-24C>T (n.799-24C>T)
c.961-24C>T (n.961-24C>T)
gnomAD v4
6g.6224884G>CCA3624542F13A1c.799-24C>G (n.799-24C>G)
c.961-24C>G (n.961-24C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.6224884G=CA1607987903F13A1c.799-24C= (n.799-24C=)
c.961-24C= (n.961-24C=)
6g.6224888_6224891delCA2769869644F13A1c.799-27_799-24del (n.799-27_799-24del)
c.961-27_961-24del (n.961-27_961-24del)

Number of alleles fetched