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.80113343_80113356delinsCGTGGCCCGGCCCCCA2277815522GAAc.2166_2179delinsCGTGGCCCGGCCCC (p.Thr722=)
c.*304_*317delinsCGTGGCCCGGCCCC (n.*304_*317delinsCGTGGCCCGGCCCC)
c.585_598delinsCGTGGCCCGGCCCC
17g.80113344_80113356delinsTGCGACGTGGCA913184909GAAc.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal)
c.*305_*317delinsTGCGACGTGG (n.*305_*317delinsTGCGACGTGG)
c.586_598delinsTGCGACGTGG
 ClinVar dbSNP
17g.80113348_80113365delCA2640298067GAAc.2171_2188del (p.Ala724_Leu729del)
c.*309_*326del (n.*309_*326del)
c.590_607del
 gnomAD v4
17g.80113350delCA986708846GAAc.2173del (p.Arg725GlyfsTer?)
c.*311del (n.*311del)
c.592del
 ClinVar dbSNP gnomAD v3 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
17g.80113360T>ACA401370651GAAc.2183T>A (p.Phe728Tyr)
c.*321T>A (n.*321T>A)
c.602T>A
17g.80113360T>CCA401370652GAAc.2183T>C (p.Phe728Ser)
c.*321T>C (n.*321T>C)
c.602T>C
 gnomAD v4
17g.80113360T>GCA401370653GAAc.2183T>G (p.Phe728Cys)
c.*321T>G (n.*321T>G)
c.602T>G

Number of alleles fetched