Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.80108679_80116948delCA913184754GAAc.1195-18_2190-20del
c.1195-18_*328-20del
17g.80108678_80116951delCA658795244GAAc.1195-19_2190-17del
c.1195-19_*328-17del
ClinVar
17g.80111485_80118678delCA10654926GAAc.1636+460_2672del
c.1636+460_*810del
ClinVar
17g.80112099_80118805delCA913184762GAAc.1753_2799del
c.1753_*937del
17g.80113259delCA916082441GAAc.2082del (p.Met695Ter)
c.*220del (n.*220del)
n.522del
c.501del
ClinVar dbSNP
17g.80113259C>ACA502179147GAAc.2082C>A (p.Ala694=)
c.*220C>A (n.*220C>A)
n.522C>A
c.501C>A
gnomAD v4
17g.80113259C>GCA502179151GAAc.2082C>G (p.Ala694=)
c.*220C>G (n.*220C>G)
n.522C>G
c.501C>G
17g.80113259C>TCA502179149GAAc.2082C>T (p.Ala694=)
c.*220C>T (n.*220C>T)
n.522C>T
c.501C>T
ClinVar
17g.80113260A=CA2277815449GAAc.2083A= (p.Met695=)
c.*221A= (n.*221A=)
n.523A=
c.502A=
17g.80113260A>CCA401370458GAAc.2083A>C (p.Met695Leu)
c.*221A>C (n.*221A>C)
n.523A>C
c.502A>C
dbSNP
17g.80113260A>GCA401370459GAAc.2083A>G (p.Met695Val)
c.*221A>G (n.*221A>G)
n.523A>G
c.502A>G
dbSNP
17g.80113260A>TCA401370460GAAc.2083A>T (p.Met695Leu)
c.*221A>T (n.*221A>T)
n.523A>T
c.502A>T
17g.80113261T>ACA401370461GAAc.2084T>A (p.Met695Lys)
c.*222T>A (n.*222T>A)
n.524T>A
c.503T>A
17g.80113261T>CCA401370462GAAc.2084T>C (p.Met695Thr)
c.*222T>C (n.*222T>C)
n.524T>C
c.503T>C
ClinVar dbSNP gnomAD v4
17g.80113261T>GCA401370463GAAc.2084T>G (p.Met695Arg)
c.*222T>G (n.*222T>G)
n.524T>G
c.503T>G
17g.80113261dupCA919905223GAAc.2084dup (p.Met695IlefsTer?)
c.*222dup (n.*222dup)
n.524dup
c.503dup
dbSNP
17g.80113262G>ACA401370464GAAc.2085G>A (p.Met695Ile)
c.*223G>A (n.*223G>A)
n.525G>A
c.504G>A
gnomAD v4
17g.80113262G>CCA401370465GAAc.2085G>C (p.Met695Ile)
c.*223G>C (n.*223G>C)
n.525G>C
c.504G>C
17g.80113262G>TCA401370466GAAc.2085G>T (p.Met695Ile)
c.*223G>T (n.*223G>T)
n.525G>T
c.504G>T
gnomAD v4
17g.80113263A>CCA502179158GAAc.2086A>C (p.Arg696=)
c.*224A>C (n.*224A>C)
n.526A>C
c.505A>C
17g.80113263A>GCA401370467GAAc.2086A>G (p.Arg696Gly)
c.*224A>G (n.*224A>G)
n.526A>G
c.505A>G
gnomAD v4
17g.80113263A>TCA401370468GAAc.2086A>T (p.Arg696Trp)
c.*224A>T (n.*224A>T)
n.526A>T
c.505A>T
17g.80113264G>ACA401370470GAAc.2087G>A (p.Arg696Lys)
c.*225G>A (n.*225G>A)
n.527G>A
c.506G>A
gnomAD v4
17g.80113264G>CCA401370471GAAc.2087G>C (p.Arg696Thr)
c.*225G>C (n.*225G>C)
n.527G>C
c.506G>C
17g.80113264G>TCA401370469GAAc.2087G>T (p.Arg696Met)
c.*225G>T (n.*225G>T)
n.527G>T
c.506G>T
gnomAD v4
17g.80113265delCA2580095814GAAc.2088del (p.Lys697ArgfsTer?)
c.*226del (n.*226del)
n.528del
c.507del
ClinVar
17g.80113265G>ACA502179160GAAc.2088G>A (p.Arg696=)
c.*226G>A (n.*226G>A)
n.528G>A
c.507G>A
ClinVar dbSNP gnomAD v4
17g.80113265G>CCA401370473GAAc.2088G>C (p.Arg696Ser)
c.*226G>C (n.*226G>C)
n.528G>C
c.507G>C
17g.80113265G>TCA401370472GAAc.2088G>T (p.Arg696Ser)
c.*226G>T (n.*226G>T)
n.528G>T
c.507G>T
17g.80113266A>CCA401370475GAAc.2089A>C (p.Lys697Gln)
c.*227A>C (n.*227A>C)
n.529A>C
c.508A>C
17g.80113266A>GCA401370474GAAc.2089A>G (p.Lys697Glu)
c.*227A>G (n.*227A>G)
n.529A>G
c.508A>G
gnomAD v4
17g.80113266A>TCA401370476GAAc.2089A>T (p.Lys697Ter)
c.*227A>T (n.*227A>T)
n.529A>T
c.508A>T
17g.80113267A>CCA401370477GAAc.2090A>C (p.Lys697Thr)
c.*228A>C (n.*228A>C)
n.530A>C
c.509A>C
gnomAD v4
17g.80113267A>GCA401370478GAAc.2090A>G (p.Lys697Arg)
c.*228A>G (n.*228A>G)
n.530A>G
c.509A>G
gnomAD v4
17g.80113267A>TCA401370479GAAc.2090A>T (p.Lys697Met)
c.*228A>T (n.*228A>T)
n.530A>T
c.509A>T
17g.80113268G>ACA502179164GAAc.2091G>A (p.Lys697=)
c.*229G>A (n.*229G>A)
n.531G>A
c.510G>A
ClinVar dbSNP gnomAD v4
17g.80113268G>CCA401370480GAAc.2091G>C (p.Lys697Asn)
c.*229G>C (n.*229G>C)
n.531G>C
c.510G>C
17g.80113268G>TCA401370481GAAc.2091G>T (p.Lys697Asn)
c.*229G>T (n.*229G>T)
n.531G>T
c.510G>T
17g.80113269G>ACA198794GAAc.2092G>A (p.Ala698Thr)
c.*230G>A (n.*230G>A)
n.532G>A
c.511G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113269G>CCA401370483GAAc.2092G>C (p.Ala698Pro)
c.*230G>C (n.*230G>C)
n.532G>C
c.511G>C
gnomAD v4
17g.80113269G=CA2277815452GAAc.2092G= (p.Ala698=)
c.*230G= (n.*230G=)
n.532G=
c.511G=
17g.80113269G>TCA401370482GAAc.2092G>T (p.Ala698Ser)
c.*230G>T (n.*230G>T)
n.532G>T
c.511G>T
gnomAD v4
17g.80113269_80113276delCA2697555244GAAc.2092_2099del (p.Ala698ProfsTer?)
c.*230_*237del (n.*230_*237del)
c.511_518del
ClinVar
17g.80113270C>ACA294897317GAAc.2093C>A (p.Ala698Asp)
c.*231C>A (n.*231C>A)
n.533C>A
c.512C>A
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80113270C=CA2277815454GAAc.2093C= (p.Ala698=)
c.*231C= (n.*231C=)
n.533C=
c.512C=
17g.80113270C>GCA401370484GAAc.2093C>G (p.Ala698Gly)
c.*231C>G (n.*231C>G)
n.533C>G
c.512C>G
17g.80113270C>TCA401370485GAAc.2093C>T (p.Ala698Val)
c.*231C>T (n.*231C>T)
n.533C>T
c.512C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80113272dupCA2573154944GAAc.2095dup (p.Leu699ProfsTer?)
c.*233dup (n.*233dup)
c.514dup
ClinVar dbSNP
17g.80113274_80113279delCA658795273GAAc.2097_2102del (p.Thr700_Leu701del)
c.*235_*240del (n.*235_*240del)
c.516_521del
17g.80113271C>ACA502179165GAAc.2094C>A (p.Ala698=)
c.*232C>A (n.*232C>A)
n.534C>A
c.513C>A
gnomAD v4
17g.80113271C>GCA502179166GAAc.2094C>G (p.Ala698=)
c.*232C>G (n.*232C>G)
n.534C>G
c.513C>G
17g.80113271C>TCA502179168GAAc.2094C>T (p.Ala698=)
c.*232C>T (n.*232C>T)
n.534C>T
c.513C>T
gnomAD v4
17g.80113272C>ACA401370486GAAc.2095C>A (p.Leu699Ile)
c.*233C>A (n.*233C>A)
c.514C>A
gnomAD v4
17g.80113272C=CA2277815456GAAc.2095C= (p.Leu699=)
c.*233C= (n.*233C=)
c.514C=
17g.80113272C>GCA401370487GAAc.2095C>G (p.Leu699Val)
c.*233C>G (n.*233C>G)
c.514C>G
17g.80113272C>TCA401370488GAAc.2095C>T (p.Leu699Phe)
c.*233C>T (n.*233C>T)
c.514C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80113273T>ACA401370491GAAc.2096T>A (p.Leu699His)
c.*234T>A (n.*234T>A)
c.515T>A
17g.80113273T>CCA401370489GAAc.2096T>C (p.Leu699Pro)
c.*234T>C (n.*234T>C)
c.515T>C
ClinVar dbSNP gnomAD v4
17g.80113273T>GCA401370490GAAc.2096T>G (p.Leu699Arg)
c.*234T>G (n.*234T>G)
c.515T>G
17g.80113273T=CA2277815457GAAc.2096T= (p.Leu699=)
c.*234T= (n.*234T=)
c.515T=
17g.80113274C>ACA502179171GAAc.2097C>A (p.Leu699=)
c.*235C>A (n.*235C>A)
c.516C>A
gnomAD v4
17g.80113274C=CA2277815458GAAc.2097C= (p.Leu699=)
c.*235C= (n.*235C=)
c.516C=
17g.80113274C>GCA502179173GAAc.2097C>G (p.Leu699=)
c.*235C>G (n.*235C>G)
c.516C>G
17g.80113274C>TCA502179172GAAc.2097C>T (p.Leu699=)
c.*235C>T (n.*235C>T)
c.516C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80113274_80113275insTTTTTTACA986708715GAAc.2097_2098insTTTTTTA (p.Thr700PhefsTer?)
c.*235_*236insTTTTTTA (n.*235_*236insTTTTTTA)
c.516_517insTTTTTTA
gnomAD v3 gnomAD v4
17g.80113275A=CA2277815460GAAc.2098A= (p.Thr700=)
c.*236A= (n.*236A=)
c.517A=
17g.80113275A>CCA401370492GAAc.2098A>C (p.Thr700Pro)
c.*236A>C (n.*236A>C)
c.517A>C
gnomAD v4
17g.80113275A>GCA294897331GAAc.2098A>G (p.Thr700Ala)
c.*236A>G (n.*236A>G)
c.517A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80113275A>TCA401370493GAAc.2098A>T (p.Thr700Ser)
c.*236A>T (n.*236A>T)
c.517A>T
gnomAD v4
17g.80113276C>ACA401370494GAAc.2099C>A (p.Thr700Asn)
c.*237C>A (n.*237C>A)
c.518C>A
gnomAD v4
17g.80113276C=CA2277815462GAAc.2099C= (p.Thr700=)
c.*237C= (n.*237C=)
c.518C=
17g.80113276C>GCA401370495GAAc.2099C>G (p.Thr700Ser)
c.*237C>G (n.*237C>G)
c.518C>G
17g.80113276C>TCA401370496GAAc.2099C>T (p.Thr700Ile)
c.*237C>T (n.*237C>T)
c.518C>T
ClinVar dbSNP gnomAD v4
17g.80113276_80113278delCA986708720GAAc.2099_2101del (p.Thr700_Leu701delinsMet)
c.*237_*239del (n.*237_*239del)
c.518_520del
gnomAD v3 gnomAD v4
17g.80113277C>ACA502179177GAAc.2100C>A (p.Thr700=)
c.*238C>A (n.*238C>A)
c.519C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80113277C=CA2277815464GAAc.2100C= (p.Thr700=)
c.*238C= (n.*238C=)
c.519C=
17g.80113277C>GCA502179178GAAc.2100C>G (p.Thr700=)
c.*238C>G (n.*238C>G)
c.519C>G
17g.80113277C>TCA294897342GAAc.2100C>T (p.Thr700=)
c.*238C>T (n.*238C>T)
c.519C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80113278C>ACA401370497GAAc.2101C>A (p.Leu701Met)
c.*239C>A (n.*239C>A)
c.520C>A
gnomAD v4
17g.80113278C=CA2277815466GAAc.2101C= (p.Leu701=)
c.*239C= (n.*239C=)
c.520C=
17g.80113278C>GCA401370498GAAc.2101C>G (p.Leu701Val)
c.*239C>G (n.*239C>G)
c.520C>G
ClinVar
17g.80113278C>TCA8815609GAAc.2101C>T (p.Leu701=)
c.*239C>T (n.*239C>T)
c.520C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80113279T>ACA401370499GAAc.2102T>A (p.Leu701Gln)
c.*240T>A (n.*240T>A)
c.521T>A
gnomAD v4
17g.80113279T>CCA401370500GAAc.2102T>C (p.Leu701Pro)
c.*240T>C (n.*240T>C)
c.521T>C
gnomAD v4
17g.80113279T>GCA401370501GAAc.2102T>G (p.Leu701Arg)
c.*240T>G (n.*240T>G)
c.521T>G
17g.80113280G>ACA502179182GAAc.2103G>A (p.Leu701=)
c.*241G>A (n.*241G>A)
c.522G>A
gnomAD v4
17g.80113280G>CCA502179180GAAc.2103G>C (p.Leu701=)
c.*241G>C (n.*241G>C)
c.522G>C
17g.80113280G>TCA502179181GAAc.2103G>T (p.Leu701=)
c.*241G>T (n.*241G>T)
c.522G>T
gnomAD v4
17g.80113282_80113283delCA986708733GAAc.2105_2106del (p.Arg702LeufsTer?)
c.*243_*244del (n.*243_*244del)
c.524_525del
gnomAD v3 gnomAD v4
17g.80113281C>ACA401370503GAAc.2104C>A (p.Arg702Ser)
c.*242C>A (n.*242C>A)
c.523C>A
17g.80113281C=CA2277815468GAAc.2104C= (p.Arg702=)
c.*242C= (n.*242C=)
c.523C=
17g.80113281C>GCA401370502GAAc.2104C>G (p.Arg702Gly)
c.*242C>G (n.*242C>G)
c.523C>G
17g.80113281C>TCA274304GAAc.2104C>T (p.Arg702Cys)
c.*242C>T (n.*242C>T)
c.523C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80113282G>ACA8815610GAAc.2105G>A (p.Arg702His)
c.*243G>A (n.*243G>A)
c.524G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113282G>CCA401370504GAAc.2105G>C (p.Arg702Pro)
c.*243G>C (n.*243G>C)
c.524G>C
ClinVar dbSNP gnomAD v4
17g.80113282G=CA2277815471GAAc.2105G= (p.Arg702=)
c.*243G= (n.*243G=)
c.524G=
17g.80113282G>TCA220396GAAc.2105G>T (p.Arg702Leu)
c.*243G>T (n.*243G>T)
c.524G>T
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80113283C>ACA502179186GAAc.2106C>A (p.Arg702=)
c.*244C>A (n.*244C>A)
c.525C>A
gnomAD v3 gnomAD v4
17g.80113283C>GCA502179187GAAc.2106C>G (p.Arg702=)
c.*244C>G (n.*244C>G)
c.525C>G
gnomAD v4
17g.80113283C>TCA502179188GAAc.2106C>T (p.Arg702=)
c.*244C>T (n.*244C>T)
c.525C>T
17g.80113284T>ACA401370505GAAc.2107T>A (p.Tyr703Asn)
c.*245T>A (n.*245T>A)
c.526T>A
17g.80113284T>CCA401370506GAAc.2107T>C (p.Tyr703His)
c.*245T>C (n.*245T>C)
c.526T>C
17g.80113284T>GCA401370507GAAc.2107T>G (p.Tyr703Asp)
c.*245T>G (n.*245T>G)
c.526T>G
17g.80113285A=CA2277815473GAAc.2108A= (p.Tyr703=)
c.*246A= (n.*246A=)
c.527A=
17g.80113285A>CCA401370508GAAc.2108A>C (p.Tyr703Ser)
c.*246A>C (n.*246A>C)
c.527A>C
17g.80113285A>GCA294897382GAAc.2108A>G (p.Tyr703Cys)
c.*246A>G (n.*246A>G)
c.527A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80113285A>TCA401370509GAAc.2108A>T (p.Tyr703Phe)
c.*246A>T (n.*246A>T)
c.527A>T
17g.80113285_80113286delinsACCA2277815474GAAc.2108_2109delinsAC (p.Tyr703=)
c.*246_*247delinsAC (n.*246_*247delinsAC)
c.527_528delinsAC
17g.80113286delCA891862616GAAc.2109del (p.Tyr703Ter)
c.*247del (n.*247del)
c.528del
dbSNP
17g.80113286C>ACA401370510GAAc.2109C>A (p.Tyr703Ter)
c.*247C>A (n.*247C>A)
c.528C>A
ClinVar dbSNP gnomAD v4
17g.80113286C=CA2277815476GAAc.2109C= (p.Tyr703=)
c.*247C= (n.*247C=)
c.528C=
17g.80113286C>GCA401370511GAAc.2109C>G (p.Tyr703Ter)
c.*247C>G (n.*247C>G)
c.528C>G
ClinVar
17g.80113286C>TCA8815611GAAc.2109C>T (p.Tyr703=)
c.*247C>T (n.*247C>T)
c.528C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113287G>ACA8815612GAAc.2110G>A (p.Ala704Thr)
c.*248G>A (n.*248G>A)
c.529G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113287G>CCA401370513GAAc.2110G>C (p.Ala704Pro)
c.*248G>C (n.*248G>C)
c.529G>C
ClinVar dbSNP
17g.80113287G=CA2277815478GAAc.2110G= (p.Ala704=)
c.*248G= (n.*248G=)
c.529G=
17g.80113287G>TCA401370512GAAc.2110G>T (p.Ala704Ser)
c.*248G>T (n.*248G>T)
c.529G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80113287dupCA986708765GAAc.2110dup (p.Ala704GlyfsTer?)
c.*248dup (n.*248dup)
c.529dup
gnomAD v3 gnomAD v4
17g.80113287_80113288insGCTTCA2810586093GAAc.2110_2111insGCTT (p.Ala704GlyfsTer?)
c.*248_*249insGCTT (n.*248_*249insGCTT)
c.529_530insGCTT
17g.80113288C>ACA401370514GAAc.2111C>A (p.Ala704Glu)
c.*249C>A (n.*249C>A)
c.530C>A
gnomAD v4
17g.80113288C>GCA401370515GAAc.2111C>G (p.Ala704Gly)
c.*249C>G (n.*249C>G)
c.530C>G
17g.80113288C>TCA401370516GAAc.2111C>T (p.Ala704Val)
c.*249C>T (n.*249C>T)
c.530C>T
gnomAD v4
17g.80113288_80113289insGCA986708769GAAc.2111_2112insG (p.Leu705ThrfsTer?)
c.*249_*250insG (n.*249_*250insG)
c.530_531insG
gnomAD v3 gnomAD v4
17g.80113289A=CA2277815480GAAc.2112A= (p.Ala704=)
c.*250A= (n.*250A=)
c.531A=
17g.80113289A>CCA502179195GAAc.2112A>C (p.Ala704=)
c.*250A>C (n.*250A>C)
c.531A>C
ClinVar dbSNP gnomAD v4
17g.80113289A>GCA502179196GAAc.2112A>G (p.Ala704=)
c.*250A>G (n.*250A>G)
c.531A>G
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.80113289A>TCA502179197GAAc.2112A>T (p.Ala704=)
c.*250A>T (n.*250A>T)
c.531A>T
gnomAD v4
17g.80113290C>ACA401370517GAAc.2113C>A (p.Leu705Ile)
c.*251C>A (n.*251C>A)
c.532C>A
gnomAD v4
17g.80113290C>GCA401370518GAAc.2113C>G (p.Leu705Val)
c.*251C>G (n.*251C>G)
c.532C>G
gnomAD v4
17g.80113290C>TCA401370519GAAc.2113C>T (p.Leu705Phe)
c.*251C>T (n.*251C>T)
c.532C>T
gnomAD v4
17g.80113291_80113298delCA986708772GAAc.2114_2121del (p.Leu705ProfsTer29)
c.*252_*259del (n.*252_*259del)
c.533_540del
gnomAD v3 gnomAD v4
17g.80113291T>ACA401370520GAAc.2114T>A (p.Leu705His)
c.*252T>A (n.*252T>A)
c.533T>A
17g.80113291T>CCA401370521GAAc.2114T>C (p.Leu705Pro)
c.*252T>C (n.*252T>C)
c.533T>C
17g.80113291T>GCA401370522GAAc.2114T>G (p.Leu705Arg)
c.*252T>G (n.*252T>G)
c.533T>G
17g.80113292C>ACA502179201GAAc.2115C>A (p.Leu705=)
c.*253C>A (n.*253C>A)
c.534C>A
gnomAD v4
17g.80113292C=CA2277815482GAAc.2115C= (p.Leu705=)
c.*253C= (n.*253C=)
c.534C=
17g.80113292C>GCA502179202GAAc.2115C>G (p.Leu705=)
c.*253C>G (n.*253C>G)
c.534C>G
ClinVar
17g.80113292C>TCA8815613GAAc.2115C>T (p.Leu705=)
c.*253C>T (n.*253C>T)
c.534C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80113293C>ACA401370523GAAc.2116C>A (p.Leu706Ile)
c.*254C>A (n.*254C>A)
c.535C>A
gnomAD v4
17g.80113293C=CA2277815485GAAc.2116C= (p.Leu706=)
c.*254C= (n.*254C=)
c.535C=
17g.80113293C>GCA401370524GAAc.2116C>G (p.Leu706Val)
c.*254C>G (n.*254C>G)
c.535C>G
17g.80113293C>TCA401370525GAAc.2116C>T (p.Leu706Phe)
c.*254C>T (n.*254C>T)
c.535C>T
dbSNP gnomAD v4
17g.80113294T>ACA401370527GAAc.2117T>A (p.Leu706His)
c.*255T>A (n.*255T>A)
c.536T>A
17g.80113294T>CCA401370528GAAc.2117T>C (p.Leu706Pro)
c.*255T>C (n.*255T>C)
c.536T>C
dbSNP gnomAD v2 gnomAD v4
17g.80113294T>GCA401370526GAAc.2117T>G (p.Leu706Arg)
c.*255T>G (n.*255T>G)
c.536T>G
17g.80113294T=CA2277815486GAAc.2117T= (p.Leu706=)
c.*255T= (n.*255T=)
c.536T=
17g.80113295C>ACA502179204GAAc.2118C>A (p.Leu706=)
c.*256C>A (n.*256C>A)
c.537C>A
gnomAD v4
17g.80113295C=CA2277815487GAAc.2118C= (p.Leu706=)
c.*256C= (n.*256C=)
c.537C=
17g.80113295C>GCA502179205GAAc.2118C>G (p.Leu706=)
c.*256C>G (n.*256C>G)
c.537C>G
ClinVar dbSNP gnomAD v4
17g.80113295C>TCA502179207GAAc.2118C>T (p.Leu706=)
c.*256C>T (n.*256C>T)
c.537C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80113299dupCA2695200364GAAc.2122dup (p.His708ProfsTer29)
c.*260dup (n.*260dup)
c.541dup
ClinVar
17g.80113299delCA2580612686GAAc.2122del (p.His708ThrfsTer?)
c.*260del (n.*260del)
c.541del
ClinVar gnomAD v4
17g.80113296C>ACA401370529GAAc.2119C>A (p.Pro707Thr)
c.*257C>A (n.*257C>A)
c.538C>A
gnomAD v4
17g.80113296C>GCA401370531GAAc.2119C>G (p.Pro707Ala)
c.*257C>G (n.*257C>G)
c.538C>G
17g.80113296C>TCA401370530GAAc.2119C>T (p.Pro707Ser)
c.*257C>T (n.*257C>T)
c.538C>T
17g.80113297C>ACA401370532GAAc.2120C>A (p.Pro707His)
c.*258C>A (n.*258C>A)
c.539C>A
gnomAD v4
17g.80113297C=CA2277815489GAAc.2120C= (p.Pro707=)
c.*258C= (n.*258C=)
c.539C=
17g.80113297C>GCA401370533GAAc.2120C>G (p.Pro707Arg)
c.*258C>G (n.*258C>G)
c.539C>G
gnomAD v4
17g.80113297C>TCA294897393GAAc.2120C>T (p.Pro707Leu)
c.*258C>T (n.*258C>T)
c.539C>T
ClinVar dbSNP gnomAD v2
17g.80113298C>ACA502179209GAAc.2121C>A (p.Pro707=)
c.*259C>A (n.*259C>A)
c.540C>A
gnomAD v4
17g.80113298C=CA2277815490GAAc.2121C= (p.Pro707=)
c.*259C= (n.*259C=)
c.540C=
17g.80113298C>GCA502179211GAAc.2121C>G (p.Pro707=)
c.*259C>G (n.*259C>G)
c.540C>G
17g.80113298C>TCA8815614GAAc.2121C>T (p.Pro707=)
c.*259C>T (n.*259C>T)
c.540C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80113298_80113299insGCA628018664GAAc.2121_2122insG (p.His708AlafsTer29)
c.*259_*260insG (n.*259_*260insG)
c.540_541insG
dbSNP gnomAD v2 gnomAD v4
17g.80113299C>ACA8815615GAAc.2122C>A (p.His708Asn)
c.*260C>A (n.*260C>A)
c.541C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80113299C=CA2277815493GAAc.2122C= (p.His708=)
c.*260C= (n.*260C=)
c.541C=
17g.80113299C>GCA8815616GAAc.2122C>G (p.His708Asp)
c.*260C>G (n.*260C>G)
c.541C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113299C>TCA8815617GAAc.2122C>T (p.His708Tyr)
c.*260C>T (n.*260C>T)
c.541C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113300A=CA2277815494GAAc.2123A= (p.His708=)
c.*261A= (n.*261A=)
c.542A=
17g.80113300A>CCA401370534GAAc.2123A>C (p.His708Pro)
c.*261A>C (n.*261A>C)
c.542A>C
17g.80113300A>GCA401370535GAAc.2123A>G (p.His708Arg)
c.*261A>G (n.*261A>G)
c.542A>G
17g.80113300A>TCA8815618GAAc.2123A>T (p.His708Leu)
c.*261A>T (n.*261A>T)
c.542A>T
dbSNP ExAC
17g.80113301C>ACA401370537GAAc.2124C>A (p.His708Gln)
c.*262C>A (n.*262C>A)
c.543C>A
17g.80113301C=CA2277815495GAAc.2124C= (p.His708=)
c.*262C= (n.*262C=)
c.543C=
17g.80113301C>GCA401370536GAAc.2124C>G (p.His708Gln)
c.*262C>G (n.*262C>G)
c.543C>G
ClinVar dbSNP gnomAD v4
17g.80113301C>TCA8815619GAAc.2124C>T (p.His708=)
c.*262C>T (n.*262C>T)
c.543C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80113302C>ACA401370538GAAc.2125C>A (p.Leu709Ile)
c.*263C>A (n.*263C>A)
c.544C>A
gnomAD v4
17g.80113302C>GCA401370539GAAc.2125C>G (p.Leu709Val)
c.*263C>G (n.*263C>G)
c.544C>G
17g.80113302C>TCA401370540GAAc.2125C>T (p.Leu709Phe)
c.*263C>T (n.*263C>T)
c.544C>T
17g.80113302_80113303insGAGACA986708781GAAc.2125_2126insGAGA (p.Leu709ArgfsTer29)
c.*263_*264insGAGA (n.*263_*264insGAGA)
c.544_545insGAGA
gnomAD v3 gnomAD v4
17g.80113303T>ACA401370541GAAc.2126T>A (p.Leu709His)
c.*264T>A (n.*264T>A)
c.545T>A
17g.80113303T>CCA401370542GAAc.2126T>C (p.Leu709Pro)
c.*264T>C (n.*264T>C)
c.545T>C
17g.80113303T>GCA401370543GAAc.2126T>G (p.Leu709Arg)
c.*264T>G (n.*264T>G)
c.545T>G
17g.80113304C>ACA502179218GAAc.2127C>A (p.Leu709=)
c.*265C>A (n.*265C>A)
c.546C>A
gnomAD v4
17g.80113304C>GCA502179219GAAc.2127C>G (p.Leu709=)
c.*265C>G (n.*265C>G)
c.546C>G
COSMIC
17g.80113304C>TCA502179220GAAc.2127C>T (p.Leu709=)
c.*265C>T (n.*265C>T)
c.546C>T
gnomAD v4
17g.80113305T>ACA401370544GAAc.2128T>A (p.Tyr710Asn)
c.*266T>A (n.*266T>A)
c.547T>A
17g.80113305T>CCA401370545GAAc.2128T>C (p.Tyr710His)
c.*266T>C (n.*266T>C)
c.547T>C
gnomAD v4
17g.80113305T>GCA401370546GAAc.2128T>G (p.Tyr710Asp)
c.*266T>G (n.*266T>G)
c.547T>G
17g.80113306A>CCA401370547GAAc.2129A>C (p.Tyr710Ser)
c.*267A>C (n.*267A>C)
c.548A>C
17g.80113306A>GCA401370548GAAc.2129A>G (p.Tyr710Cys)
c.*267A>G (n.*267A>G)
c.548A>G
gnomAD v4
17g.80113306A>TCA401370549GAAc.2129A>T (p.Tyr710Phe)
c.*267A>T (n.*267A>T)
c.548A>T
17g.80113307C>ACA401370551GAAc.2130C>A (p.Tyr710Ter)
c.*268C>A (n.*268C>A)
c.549C>A
ClinVar dbSNP gnomAD v4
17g.80113307C=CA2277815496GAAc.2130C= (p.Tyr710=)
c.*268C= (n.*268C=)
c.549C=
17g.80113307C>GCA401370550GAAc.2130C>G (p.Tyr710Ter)
c.*268C>G (n.*268C>G)
c.549C>G
17g.80113307C>TCA502179222GAAc.2130C>T (p.Tyr710=)
c.*268C>T (n.*268C>T)
c.549C>T
gnomAD v4
17g.80113308A>CCA401370552GAAc.2131A>C (p.Thr711Pro)
c.*269A>C (n.*269A>C)
c.550A>C
ClinVar dbSNP
17g.80113308A>GCA401370553GAAc.2131A>G (p.Thr711Ala)
c.*269A>G (n.*269A>G)
c.550A>G
ClinVar dbSNP gnomAD v4
17g.80113308A>TCA401370554GAAc.2131A>T (p.Thr711Ser)
c.*269A>T (n.*269A>T)
c.550A>T
ClinVar
17g.80113309C>ACA401370555GAAc.2132C>A (p.Thr711Lys)
c.*270C>A (n.*270C>A)
c.551C>A
17g.80113309C=CA2277815497GAAc.2132C= (p.Thr711=)
c.*270C= (n.*270C=)
c.551C=
17g.80113309C>GCA8815620GAAc.2132C>G (p.Thr711Arg)
c.*270C>G (n.*270C>G)
c.551C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80113309C>TCA401370556GAAc.2132C>T (p.Thr711Ile)
c.*270C>T (n.*270C>T)
c.551C>T
dbSNP gnomAD v2 gnomAD v4
17g.80113309_80113310delinsCACA2277815498GAAc.2132_2133delinsCA (p.Thr711=)
c.*270_*271delinsCA (n.*270_*271delinsCA)
c.551_552delinsCA
17g.80113309_80113310delinsGGCA658658713GAAc.2132_2133delinsGG (p.Thr711Arg)
c.*270_*271delinsGG (n.*270_*271delinsGG)
c.551_552delinsGG
ClinVar dbSNP
17g.80113309_80113310delinsTGCA2573154945GAAc.2132_2133delinsTG (p.Thr711Met)
c.*270_*271delinsTG (n.*270_*271delinsTG)
c.551_552delinsTG
ClinVar
17g.80113310A=CA2277815499GAAc.2133A= (p.Thr711=)
c.*271A= (n.*271A=)
c.552A=
17g.80113310A>CCA502179226GAAc.2133A>C (p.Thr711=)
c.*271A>C (n.*271A>C)
c.552A>C
17g.80113310A>GCA145765GAAc.2133A>G (p.Thr711=)
c.*271A>G (n.*271A>G)
c.552A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113310A>TCA502179227GAAc.2133A>T (p.Thr711=)
c.*271A>T (n.*271A>T)
c.552A>T
dbSNP
17g.80113311C>ACA401370557GAAc.2134C>A (p.Leu712Met)
c.*272C>A (n.*272C>A)
c.553C>A
dbSNP gnomAD v4
17g.80113311C=CA2277815500GAAc.2134C= (p.Leu712=)
c.*272C= (n.*272C=)
c.553C=
17g.80113311C>GCA401370558GAAc.2134C>G (p.Leu712Val)
c.*272C>G (n.*272C>G)
c.553C>G
17g.80113311C>TCA8815621GAAc.2134C>T (p.Leu712=)
c.*272C>T (n.*272C>T)
c.553C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80113311_80113313delCA913014064GAAc.2134_2136del (p.Leu712del)
c.*272_*274del (n.*272_*274del)
c.553_555del
17g.80113311_80113313delinsCTGCA2277815501GAAc.2134_2136delinsCTG (p.Leu712=)
c.*272_*274delinsCTG (n.*272_*274delinsCTG)
c.553_555delinsCTG
17g.80113312T>ACA401370559GAAc.2135T>A (p.Leu712Gln)
c.*273T>A (n.*273T>A)
c.554T>A
dbSNP
17g.80113312T>CCA401370560GAAc.2135T>C (p.Leu712Pro)
c.*273T>C (n.*273T>C)
c.554T>C
gnomAD v4
17g.80113312T>GCA401370561GAAc.2135T>G (p.Leu712Arg)
c.*273T>G (n.*273T>G)
c.554T>G
17g.80113312T=CA2277815502GAAc.2135T= (p.Leu712=)
c.*273T= (n.*273T=)
c.554T=
17g.80113313_80113314delCA658795274GAAc.2136_2137del (p.Phe713ProfsTer23)
c.*274_*275del (n.*274_*275del)
c.555_556del
ClinVar dbSNP gnomAD v4
17g.80113313G>ACA502179229GAAc.2136G>A (p.Leu712=)
c.*274G>A (n.*274G>A)
c.555G>A
gnomAD v4
17g.80113313G>CCA502179230GAAc.2136G>C (p.Leu712=)
c.*274G>C (n.*274G>C)
c.555G>C
gnomAD v4
17g.80113313G>TCA502179231GAAc.2136G>T (p.Leu712=)
c.*274G>T (n.*274G>T)
c.555G>T
gnomAD v4
17g.80113314T>ACA401370563GAAc.2137T>A (p.Phe713Ile)
c.*275T>A (n.*275T>A)
c.556T>A
17g.80113314T>CCA8815622GAAc.2137T>C (p.Phe713Leu)
c.*275T>C (n.*275T>C)
c.556T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80113314T>GCA401370562GAAc.2137T>G (p.Phe713Val)
c.*275T>G (n.*275T>G)
c.556T>G
17g.80113314T=CA2277815503GAAc.2137T= (p.Phe713=)
c.*275T= (n.*275T=)
c.556T=
17g.80113315T>ACA401370564GAAc.2138T>A (p.Phe713Tyr)
c.*276T>A (n.*276T>A)
c.557T>A
17g.80113315T>CCA401370565GAAc.2138T>C (p.Phe713Ser)
c.*276T>C (n.*276T>C)
c.557T>C
gnomAD v4
17g.80113315T>GCA401370566GAAc.2138T>G (p.Phe713Cys)
c.*276T>G (n.*276T>G)
c.557T>G
17g.80113315_80113316delinsTCCA2277815504GAAc.2138_2139delinsTC (p.Phe713=)
c.*276_*277delinsTC (n.*276_*277delinsTC)
c.557_558delinsTC
17g.80113316C>ACA401370567GAAc.2139C>A (p.Phe713Leu)
c.*277C>A (n.*277C>A)
c.558C>A
gnomAD v4
17g.80113316C>GCA401370568GAAc.2139C>G (p.Phe713Leu)
c.*277C>G (n.*277C>G)
c.558C>G
17g.80113316C>TCA502179236GAAc.2139C>T (p.Phe713=)
c.*277C>T (n.*277C>T)
c.558C>T
gnomAD v4 COSMIC
17g.80113317delCA274107GAAc.2140del (p.His714ThrfsTer?)
c.*278del (n.*278del)
c.559del
ClinVar dbSNP
17g.80113317C>ACA401370569GAAc.2140C>A (p.His714Asn)
c.*278C>A (n.*278C>A)
c.559C>A
17g.80113317C=CA2277815505GAAc.2140C= (p.His714=)
c.*278C= (n.*278C=)
c.559C=
17g.80113317C>GCA401370570GAAc.2140C>G (p.His714Asp)
c.*278C>G (n.*278C>G)
c.559C>G
gnomAD v4
17g.80113317C>TCA401370571GAAc.2140C>T (p.His714Tyr)
c.*278C>T (n.*278C>T)
c.559C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80113318A=CA2277815506GAAc.2141A= (p.His714=)
c.*279A= (n.*279A=)
c.560A=
17g.80113318A>CCA401370572GAAc.2141A>C (p.His714Pro)
c.*279A>C (n.*279A>C)
c.560A>C
17g.80113318A>GCA294897442GAAc.2141A>G (p.His714Arg)
c.*279A>G (n.*279A>G)
c.560A>G
dbSNP
17g.80113318A>TCA401370573GAAc.2141A>T (p.His714Leu)
c.*279A>T (n.*279A>T)
c.560A>T
17g.80113319C>ACA401370574GAAc.2142C>A (p.His714Gln)
c.*280C>A (n.*280C>A)
c.561C>A
gnomAD v4
17g.80113319C=CA2277815507GAAc.2142C= (p.His714=)
c.*280C= (n.*280C=)
c.561C=
17g.80113319C>GCA401370575GAAc.2142C>G (p.His714Gln)
c.*280C>G (n.*280C>G)
c.561C>G
17g.80113319C>TCA8815623GAAc.2142C>T (p.His714=)
c.*280C>T (n.*280C>T)
c.561C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113320delCA2640297597GAAc.2143del (p.Gln715ArgfsTer?)
c.*281del (n.*281del)
c.562del
gnomAD v4
17g.80113320C>ACA401370576GAAc.2143C>A (p.Gln715Lys)
c.*281C>A (n.*281C>A)
c.562C>A
gnomAD v4
17g.80113320C=CA2277815508GAAc.2143C= (p.Gln715=)
c.*281C= (n.*281C=)
c.562C=
17g.80113320C>GCA401370577GAAc.2143C>G (p.Gln715Glu)
c.*281C>G (n.*281C>G)
c.562C>G
gnomAD v4
17g.80113320C>TCA401370578GAAc.2143C>T (p.Gln715Ter)
c.*281C>T (n.*281C>T)
c.562C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80113321A>CCA401370579GAAc.2144A>C (p.Gln715Pro)
c.*282A>C (n.*282A>C)
c.563A>C
17g.80113321A>GCA401370580GAAc.2144A>G (p.Gln715Arg)
c.*282A>G (n.*282A>G)
c.563A>G
gnomAD v4
17g.80113321A>TCA401370581GAAc.2144A>T (p.Gln715Leu)
c.*282A>T (n.*282A>T)
c.563A>T
17g.80113322G>ACA502179240GAAc.2145G>A (p.Gln715=)
c.*283G>A (n.*283G>A)
c.564G>A
17g.80113322G>CCA401370583GAAc.2145G>C (p.Gln715His)
c.*283G>C (n.*283G>C)
c.564G>C
17g.80113322G>TCA401370582GAAc.2145G>T (p.Gln715His)
c.*283G>T (n.*283G>T)
c.564G>T
gnomAD v4
17g.80113323G>ACA401370584GAAc.2146G>A (p.Ala716Thr)
c.*284G>A (n.*284G>A)
c.565G>A
gnomAD v4
17g.80113323G>CCA401370585GAAc.2146G>C (p.Ala716Pro)
c.*284G>C (n.*284G>C)
c.565G>C
dbSNP gnomAD v4
17g.80113323G=CA2277815509GAAc.2146G= (p.Ala716=)
c.*284G= (n.*284G=)
c.565G=
17g.80113323G>TCA401370586GAAc.2146G>T (p.Ala716Ser)
c.*284G>T (n.*284G>T)
c.565G>T
dbSNP gnomAD v2 gnomAD v4
17g.80113324C>ACA401370587GAAc.2147C>A (p.Ala716Asp)
c.*285C>A (n.*285C>A)
c.566C>A
gnomAD v4
17g.80113324C>GCA401370588GAAc.2147C>G (p.Ala716Gly)
c.*285C>G (n.*285C>G)
c.566C>G
17g.80113324C>TCA401370589GAAc.2147C>T (p.Ala716Val)
c.*285C>T (n.*285C>T)
c.566C>T
gnomAD v4 COSMIC
17g.80113325C>ACA502179242GAAc.2148C>A (p.Ala716=)
c.*286C>A (n.*286C>A)
c.567C>A
ClinVar dbSNP gnomAD v4
17g.80113325C=CA2277815510GAAc.2148C= (p.Ala716=)
c.*286C= (n.*286C=)
c.567C=
17g.80113325C>GCA502179243GAAc.2148C>G (p.Ala716=)
c.*286C>G (n.*286C>G)
c.567C>G
ClinVar dbSNP gnomAD v4
17g.80113325C>TCA8815624GAAc.2148C>T (p.Ala716=)
c.*286C>T (n.*286C>T)
c.567C>T
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80113326C>ACA401370590GAAc.2149C>A (p.His717Asn)
c.*287C>A (n.*287C>A)
c.568C>A
gnomAD v4
17g.80113326C>GCA401370592GAAc.2149C>G (p.His717Asp)
c.*287C>G (n.*287C>G)
c.568C>G
17g.80113326C>TCA401370591GAAc.2149C>T (p.His717Tyr)
c.*287C>T (n.*287C>T)
c.568C>T
gnomAD v4
17g.80113327A>CCA401370593GAAc.2150A>C (p.His717Pro)
c.*288A>C (n.*288A>C)
c.569A>C
17g.80113327A>GCA401370594GAAc.2150A>G (p.His717Arg)
c.*288A>G (n.*288A>G)
c.569A>G
gnomAD v4
17g.80113327A>TCA401370595GAAc.2150A>T (p.His717Leu)
c.*288A>T (n.*288A>T)
c.569A>T
17g.80113328C>ACA401370596GAAc.2151C>A (p.His717Gln)
c.*289C>A (n.*289C>A)
c.570C>A
gnomAD v4
17g.80113328C=CA2277815511GAAc.2151C= (p.His717=)
c.*289C= (n.*289C=)
c.570C=
17g.80113328C>GCA401370597GAAc.2151C>G (p.His717Gln)
c.*289C>G (n.*289C>G)
c.570C>G
17g.80113328C>TCA8815625GAAc.2151C>T (p.His717=)
c.*289C>T (n.*289C>T)
c.570C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113329G>ACA8815626GAAc.2152G>A (p.Val718Ile)
c.*290G>A (n.*290G>A)
c.571G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113329G>CCA401370598GAAc.2152G>C (p.Val718Leu)
c.*290G>C (n.*290G>C)
c.571G>C
ClinVar gnomAD v4
17g.80113329G=CA2277815512GAAc.2152G= (p.Val718=)
c.*290G= (n.*290G=)
c.571G=
17g.80113329G>TCA401370599GAAc.2152G>T (p.Val718Phe)
c.*290G>T (n.*290G>T)
c.571G>T
gnomAD v4
17g.80113329_80113333delinsGTCGCCA2277815513GAAc.2152_2156delinsGTCGC (p.Val718=)
c.*290_*294delinsGTCGC (n.*290_*294delinsGTCGC)
c.571_575delinsGTCGC
17g.80113330T>ACA401370600GAAc.2153T>A (p.Val718Asp)
c.*291T>A (n.*291T>A)
c.572T>A
17g.80113330T>CCA401370601GAAc.2153T>C (p.Val718Ala)
c.*291T>C (n.*291T>C)
c.572T>C
COSMIC
17g.80113330T>GCA401370602GAAc.2153T>G (p.Val718Gly)
c.*291T>G (n.*291T>G)
c.572T>G
17g.80113330_80113333delinsACGCCGCA919905225GAAc.2153_2156delinsACGCCG (p.Val718AspfsTer?)
c.*291_*294delinsACGCCG (n.*291_*294delinsACGCCG)
c.572_575delinsACGCCG
dbSNP
17g.80113331C>ACA502179245GAAc.2154C>A (p.Val718=)
c.*292C>A (n.*292C>A)
c.573C>A
gnomAD v4
17g.80113331C=CA2277815514GAAc.2154C= (p.Val718=)
c.*292C= (n.*292C=)
c.573C=
17g.80113331C>GCA502179246GAAc.2154C>G (p.Val718=)
c.*292C>G (n.*292C>G)
c.573C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80113331C>TCA8815627GAAc.2154C>T (p.Val718=)
c.*292C>T (n.*292C>T)
c.573C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113332G>ACA8815629GAAc.2155G>A (p.Ala719Thr)
c.*293G>A (n.*293G>A)
c.574G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.80113332G>CCA401370603GAAc.2155G>C (p.Ala719Pro)
c.*293G>C (n.*293G>C)
c.574G>C
17g.80113332G=CA2277815515GAAc.2155G= (p.Ala719=)
c.*293G= (n.*293G=)
c.574G=
17g.80113332G>TCA8815628GAAc.2155G>T (p.Ala719Ser)
c.*293G>T (n.*293G>T)
c.574G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113333C>ACA240427GAAc.2156C>A (p.Ala719Glu)
c.*294C>A (n.*294C>A)
c.575C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113333C=CA2277815516GAAc.2156C= (p.Ala719=)
c.*294C= (n.*294C=)
c.575C=
17g.80113333C>GCA401370604GAAc.2156C>G (p.Ala719Gly)
c.*294C>G (n.*294C>G)
c.575C>G
17g.80113333C>TCA8815630GAAc.2156C>T (p.Ala719Val)
c.*294C>T (n.*294C>T)
c.575C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113333dupCA913014065GAAc.2156dup (p.Glu721GlyfsTer16)
c.*294dup (n.*294dup)
c.575dup
17g.80113333_80113334delinsCGCA2277815517GAAc.2156_2157delinsCG (p.Ala719=)
c.*294_*295delinsCG (n.*294_*295delinsCG)
c.575_576delinsCG
17g.80113335_80113344dupCA2576414204GAAc.2158_2167dup (p.Val723GlyfsTer17)
c.*296_*305dup (n.*296_*305dup)
c.577_586dup
17g.80113334G>ACA240430GAAc.2157G>A (p.Ala719=)
c.*295G>A (n.*295G>A)
c.576G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113334G>CCA502179252GAAc.2157G>C (p.Ala719=)
c.*295G>C (n.*295G>C)
c.576G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80113334G=CA2277815518GAAc.2157G= (p.Ala719=)
c.*295G= (n.*295G=)
c.576G=
17g.80113334G>TCA502179253GAAc.2157G>T (p.Ala719=)
c.*295G>T (n.*295G>T)
c.576G>T
ClinVar gnomAD v4
17g.80113338dupCA658795275GAAc.2161dup (p.Glu721GlyfsTer16)
c.*299dup (n.*299dup)
c.580dup
ClinVar dbSNP gnomAD v4
17g.80113338delCA913187393GAAc.2161del (p.Glu721ArgfsTer?)
c.*299del (n.*299del)
c.580del
ClinVar dbSNP gnomAD v4
17g.80113335G>ACA401370605GAAc.2158G>A (p.Gly720Arg)
c.*296G>A (n.*296G>A)
c.577G>A
gnomAD v4
17g.80113335G>CCA401370606GAAc.2158G>C (p.Gly720Arg)
c.*296G>C (n.*296G>C)
c.577G>C
17g.80113335G>TCA401370607GAAc.2158G>T (p.Gly720Trp)
c.*296G>T (n.*296G>T)
c.577G>T
gnomAD v4
17g.80113336G>ACA8815631GAAc.2159G>A (p.Gly720Glu)
c.*297G>A (n.*297G>A)
c.578G>A
dbSNP ExAC gnomAD v2 gnomAD v4
17g.80113336G>CCA401370608GAAc.2159G>C (p.Gly720Ala)
c.*297G>C (n.*297G>C)
c.578G>C
17g.80113336G=CA2277815519GAAc.2159G= (p.Gly720=)
c.*297G= (n.*297G=)
c.578G=
17g.80113336G>TCA401370609GAAc.2159G>T (p.Gly720Val)
c.*297G>T (n.*297G>T)
c.578G>T
gnomAD v4
17g.80113337G>ACA502179254GAAc.2160G>A (p.Gly720=)
c.*298G>A (n.*298G>A)
c.579G>A
17g.80113337G>CCA502179255GAAc.2160G>C (p.Gly720=)
c.*298G>C (n.*298G>C)
c.579G>C
17g.80113337G>TCA502179257GAAc.2160G>T (p.Gly720=)
c.*298G>T (n.*298G>T)
c.579G>T
gnomAD v4
17g.80113338G>ACA401370610GAAc.2161G>A (p.Glu721Lys)
c.*299G>A (n.*299G>A)
c.580G>A
gnomAD v4
17g.80113338G>CCA8815632GAAc.2161G>C (p.Glu721Gln)
c.*299G>C (n.*299G>C)
c.580G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113338G=CA2277815520GAAc.2161G= (p.Glu721=)
c.*299G= (n.*299G=)
c.580G=
17g.80113338G>TCA401370611GAAc.2161G>T (p.Glu721Ter)
c.*299G>T (n.*299G>T)
c.580G>T
ClinVar dbSNP gnomAD v4
17g.80113339A>CCA401370614GAAc.2162A>C (p.Glu721Ala)
c.*300A>C (n.*300A>C)
c.581A>C
17g.80113339A>GCA401370612GAAc.2162A>G (p.Glu721Gly)
c.*300A>G (n.*300A>G)
c.581A>G
gnomAD v4
17g.80113339A>TCA401370613GAAc.2162A>T (p.Glu721Val)
c.*300A>T (n.*300A>T)
c.581A>T
17g.80113340G>ACA502179260GAAc.2163G>A (p.Glu721=)
c.*301G>A (n.*301G>A)
c.582G>A
ClinVar dbSNP
17g.80113340G>CCA401370615GAAc.2163G>C (p.Glu721Asp)
c.*301G>C (n.*301G>C)
c.582G>C
17g.80113340G>TCA401370616GAAc.2163G>T (p.Glu721Asp)
c.*301G>T (n.*301G>T)
c.582G>T
gnomAD v4
17g.80113341A=CA2277815521GAAc.2164A= (p.Thr722=)
c.*302A= (n.*302A=)
c.583A=
17g.80113341A>CCA401370617GAAc.2164A>C (p.Thr722Pro)
c.*302A>C (n.*302A>C)
c.583A>C
17g.80113341A>GCA401370618GAAc.2164A>G (p.Thr722Ala)
c.*302A>G (n.*302A>G)
c.583A>G
dbSNP gnomAD v4
17g.80113341A>TCA8815633GAAc.2164A>T (p.Thr722Ser)
c.*302A>T (n.*302A>T)
c.583A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113342C>ACA401370619GAAc.2165C>A (p.Thr722Asn)
c.*303C>A (n.*303C>A)
c.584C>A
17g.80113342C>GCA401370620GAAc.2165C>G (p.Thr722Ser)
c.*303C>G (n.*303C>G)
c.584C>G
17g.80113342C>TCA401370621GAAc.2165C>T (p.Thr722Ile)
c.*303C>T (n.*303C>T)
c.584C>T
gnomAD v4
17g.80113343delCA2640298001GAAc.2166del (p.Val723TrpfsTer?)
c.*304del (n.*304del)
c.585del
gnomAD v4
17g.80113343C>ACA502179266GAAc.2166C>A (p.Thr722=)
c.*304C>A (n.*304C>A)
c.585C>A
gnomAD v4
17g.80113343C=CA2277815523GAAc.2166C= (p.Thr722=)
c.*304C= (n.*304C=)
c.585C=
17g.80113343C>GCA502179264GAAc.2166C>G (p.Thr722=)
c.*304C>G (n.*304C>G)
c.585C>G
ClinVar gnomAD v4
17g.80113343C>TCA8815634GAAc.2166C>T (p.Thr722=)
c.*304C>T (n.*304C>T)
c.585C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113343_80113344insTGCGACCA2573154951GAAc.2166_2167insTGCGAC (p.Thr722_Val723insCysAsp)
c.*304_*305insTGCGAC (n.*304_*305insTGCGAC)
c.585_586insTGCGAC
dbSNP
17g.80113343_80113356delinsCGTGGCCCGGCCCCCA2277815522GAAc.2166_2179delinsCGTGGCCCGGCCCC (p.Thr722=)
c.*304_*317delinsCGTGGCCCGGCCCC (n.*304_*317delinsCGTGGCCCGGCCCC)
c.585_598delinsCGTGGCCCGGCCCC
17g.80113344G>ACA8815635GAAc.2167G>A (p.Val723Met)
c.*305G>A (n.*305G>A)
c.586G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80113344G>CCA401370622GAAc.2167G>C (p.Val723Leu)
c.*305G>C (n.*305G>C)
c.586G>C
17g.80113344G=CA2277815524GAAc.2167G= (p.Val723=)
c.*305G= (n.*305G=)
c.586G=
17g.80113344G>TCA401370623GAAc.2167G>T (p.Val723Leu)
c.*305G>T (n.*305G>T)
c.586G>T
gnomAD v4
17g.80113344_80113356delinsTGCGACGTGGCA913184909GAAc.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal)
c.*305_*317delinsTGCGACGTGG (n.*305_*317delinsTGCGACGTGG)
c.586_598delinsTGCGACGTGG
ClinVar dbSNP
17g.80113345T>ACA401370624GAAc.2168T>A (p.Val723Glu)
c.*306T>A (n.*306T>A)
c.587T>A
17g.80113345T>CCA401370626GAAc.2168T>C (p.Val723Ala)
c.*306T>C (n.*306T>C)
c.587T>C
17g.80113345T>GCA401370625GAAc.2168T>G (p.Val723Gly)
c.*306T>G (n.*306T>G)
c.587T>G
dbSNP gnomAD v2 gnomAD v4
17g.80113345T=CA2277815525GAAc.2168T= (p.Val723=)
c.*306T= (n.*306T=)
c.587T=
17g.80113348_80113365delCA2640298067GAAc.2171_2188del (p.Ala724_Leu729del)
c.*309_*326del (n.*309_*326del)
c.590_607del
gnomAD v4
17g.80113346G>ACA502179267GAAc.2169G>A (p.Val723=)
c.*307G>A (n.*307G>A)
c.588G>A
ClinVar gnomAD v4
17g.80113346G>CCA502179268GAAc.2169G>C (p.Val723=)
c.*307G>C (n.*307G>C)
c.588G>C
17g.80113346G>TCA502179269GAAc.2169G>T (p.Val723=)
c.*307G>T (n.*307G>T)
c.588G>T
gnomAD v4
17g.80113347G>ACA401370627GAAc.2170G>A (p.Ala724Thr)
c.*308G>A (n.*308G>A)
c.589G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80113347G>CCA401370629GAAc.2170G>C (p.Ala724Pro)
c.*308G>C (n.*308G>C)
c.589G>C
17g.80113347G=CA2277815527GAAc.2170G= (p.Ala724=)
c.*308G= (n.*308G=)
c.589G=
17g.80113347G>TCA401370628GAAc.2170G>T (p.Ala724Ser)
c.*308G>T (n.*308G>T)
c.589G>T
gnomAD v4
17g.80113347_80113348delinsGCCA2277815526GAAc.2170_2171delinsGC (p.Ala724=)
c.*308_*309delinsGC (n.*308_*309delinsGC)
c.589_590delinsGC
17g.80113348C>ACA401370630GAAc.2171C>A (p.Ala724Asp)
c.*309C>A (n.*309C>A)
c.590C>A
dbSNP gnomAD v2 gnomAD v4
17g.80113348C=CA2277815528GAAc.2171C= (p.Ala724=)
c.*309C= (n.*309C=)
c.590C=
17g.80113348C>GCA401370631GAAc.2171C>G (p.Ala724Gly)
c.*309C>G (n.*309C>G)
c.590C>G
17g.80113348C>TCA401370632GAAc.2171C>T (p.Ala724Val)
c.*309C>T (n.*309C>T)
c.590C>T
gnomAD v4
17g.80113350delCA986708846GAAc.2173del (p.Arg725GlyfsTer?)
c.*311del (n.*311del)
c.592del
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80113349C>ACA502179272GAAc.2172C>A (p.Ala724=)
c.*310C>A (n.*310C>A)
c.591C>A
gnomAD v4
17g.80113349C=CA2277815529GAAc.2172C= (p.Ala724=)
c.*310C= (n.*310C=)
c.591C=
17g.80113349C>GCA502179273GAAc.2172C>G (p.Ala724=)
c.*310C>G (n.*310C>G)
c.591C>G
17g.80113349C>TCA502179274GAAc.2172C>T (p.Ala724=)
c.*310C>T (n.*310C>T)
c.591C>T
ClinVar dbSNP gnomAD v4
17g.80113350C>ACA502179275GAAc.2173C>A (p.Arg725=)
c.*311C>A (n.*311C>A)
c.592C>A
dbSNP gnomAD v4
17g.80113350C=CA2277815530GAAc.2173C= (p.Arg725=)
c.*311C= (n.*311C=)
c.592C=
17g.80113350C>GCA401370633GAAc.2173C>G (p.Arg725Gly)
c.*311C>G (n.*311C>G)
c.592C>G
17g.80113350C>TCA116598GAAc.2173C>T (p.Arg725Trp)
c.*311C>T (n.*311C>T)
c.592C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.80113351G>ACA8815636GAAc.2174G>A (p.Arg725Gln)
c.*312G>A (n.*312G>A)
c.593G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80113351G>CCA401370634GAAc.2174G>C (p.Arg725Pro)
c.*312G>C (n.*312G>C)
c.593G>C
17g.80113351G=CA2277815531GAAc.2174G= (p.Arg725=)
c.*312G= (n.*312G=)
c.593G=
17g.80113351G>TCA401370635GAAc.2174G>T (p.Arg725Leu)
c.*312G>T (n.*312G>T)
c.593G>T
ClinVar gnomAD v4
17g.80113352G>ACA502179276GAAc.2175G>A (p.Arg725=)
c.*313G>A (n.*313G>A)
c.594G>A
gnomAD v4
17g.80113352G>CCA502179277GAAc.2175G>C (p.Arg725=)
c.*313G>C (n.*313G>C)
c.594G>C
gnomAD v4
17g.80113352G>TCA502179278GAAc.2175G>T (p.Arg725=)
c.*313G>T (n.*313G>T)
c.594G>T
ClinVar dbSNP gnomAD v4
17g.80113353C>ACA401370636GAAc.2176C>A (p.Pro726Thr)
c.*314C>A (n.*314C>A)
c.595C>A
gnomAD v4
17g.80113353C>GCA401370637GAAc.2176C>G (p.Pro726Ala)
c.*314C>G (n.*314C>G)
c.595C>G
17g.80113353C>TCA401370638GAAc.2176C>T (p.Pro726Ser)
c.*314C>T (n.*314C>T)
c.595C>T
gnomAD v4
17g.80113356delCA2640298227GAAc.2179del (p.Leu727SerfsTer?)
c.*317del (n.*317del)
c.598del
gnomAD v4
17g.80113354C>ACA401370641GAAc.2177C>A (p.Pro726His)
c.*315C>A (n.*315C>A)
c.596C>A
gnomAD v4
17g.80113354C=CA2277815532GAAc.2177C= (p.Pro726=)
c.*315C= (n.*315C=)
c.596C=
17g.80113354C>GCA401370640GAAc.2177C>G (p.Pro726Arg)
c.*315C>G (n.*315C>G)
c.596C>G
17g.80113354C>TCA401370639GAAc.2177C>T (p.Pro726Leu)
c.*315C>T (n.*315C>T)
c.596C>T
dbSNP gnomAD v3 gnomAD v4
17g.80113355C>ACA502179279GAAc.2178C>A (p.Pro726=)
c.*316C>A (n.*316C>A)
c.597C>A
ClinVar dbSNP gnomAD v4
17g.80113355C=CA2277815533GAAc.2178C= (p.Pro726=)
c.*316C= (n.*316C=)
c.597C=
17g.80113355C>GCA502179280GAAc.2178C>G (p.Pro726=)
c.*316C>G (n.*316C>G)
c.597C>G
ClinVar gnomAD v4
17g.80113355C>TCA502179281GAAc.2178C>T (p.Pro726=)
c.*316C>T (n.*316C>T)
c.597C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80113356C>ACA401370642GAAc.2179C>A (p.Leu727Ile)
c.*317C>A (n.*317C>A)
c.598C>A
gnomAD v4
17g.80113356C=CA2277815534GAAc.2179C= (p.Leu727=)
c.*317C= (n.*317C=)
c.598C=
17g.80113356C>GCA401370643GAAc.2179C>G (p.Leu727Val)
c.*317C>G (n.*317C>G)
c.598C>G
17g.80113356C>TCA401370644GAAc.2179C>T (p.Leu727Phe)
c.*317C>T (n.*317C>T)
c.598C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80113357T>ACA401370645GAAc.2180T>A (p.Leu727His)
c.*318T>A (n.*318T>A)
c.599T>A
17g.80113357T>CCA401370646GAAc.2180T>C (p.Leu727Pro)
c.*318T>C (n.*318T>C)
c.599T>C
gnomAD v4
17g.80113357T>GCA401370647GAAc.2180T>G (p.Leu727Arg)
c.*318T>G (n.*318T>G)
c.599T>G
17g.80113358C>ACA502179282GAAc.2181C>A (p.Leu727=)
c.*319C>A (n.*319C>A)
c.600C>A
gnomAD v4
17g.80113358C=CA2277815535GAAc.2181C= (p.Leu727=)
c.*319C= (n.*319C=)
c.600C=
17g.80113358C>GCA502179283GAAc.2181C>G (p.Leu727=)
c.*319C>G (n.*319C>G)
c.600C>G
17g.80113358C>TCA502179284GAAc.2181C>T (p.Leu727=)
c.*319C>T (n.*319C>T)
c.600C>T
dbSNP gnomAD v2
17g.80113359T>ACA401370648GAAc.2182T>A (p.Phe728Ile)
c.*320T>A (n.*320T>A)
c.601T>A
dbSNP gnomAD v2 gnomAD v4
17g.80113359T>CCA401370649GAAc.2182T>C (p.Phe728Leu)
c.*320T>C (n.*320T>C)
c.601T>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80113359T>GCA401370650GAAc.2182T>G (p.Phe728Val)
c.*320T>G (n.*320T>G)
c.601T>G
17g.80113359T=CA2277815536GAAc.2182T= (p.Phe728=)
c.*320T= (n.*320T=)
c.601T=
17g.80113359_80113360delCA891862609GAAc.2182_2183del (p.Phe728ProfsTer8)
c.*320_*321del (n.*320_*321del)
c.601_602del

Number of alleles fetched