Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.80104734_80107789delCA658795223GAAc.148_859-11del
ClinVar
17g.80105757T>ACA401362061GAAc.555T>A (p.Asp185Glu)
17g.80105757T>CCA502177460GAAc.555T>C (p.Asp185=)
17g.80105757T>GCA401362062GAAc.555T>G (p.Asp185Glu)
17g.80105758C>ACA401362066GAAc.556C>A (p.Pro186Thr)
17g.80105758C>GCA401362069GAAc.556C>G (p.Pro186Ala)
17g.80105758C>TCA401362065GAAc.556C>T (p.Pro186Ser)
ClinVar
17g.80105759C>ACA401362072GAAc.557C>A (p.Pro186Gln)
ClinVar
17g.80105759C>GCA401362071GAAc.557C>G (p.Pro186Arg)
17g.80105759C>TCA401362074GAAc.557C>T (p.Pro186Leu)
gnomAD v4
17g.80105760A=CA2277811220GAAc.558A= (p.Pro186=)
17g.80105760A>CCA502177465GAAc.558A>C (p.Pro186=)
17g.80105760A>GCA502177468GAAc.558A>G (p.Pro186=)
dbSNP gnomAD v3 gnomAD v4
17g.80105760A>TCA502177466GAAc.558A>T (p.Pro186=)
17g.80105761G>ACA401362076GAAc.559G>A (p.Ala187Thr)
17g.80105761G>CCA401362078GAAc.559G>C (p.Ala187Pro)
17g.80105761G>TCA401362080GAAc.559G>T (p.Ala187Ser)
gnomAD v4 COSMIC
17g.80105762C>ACA401362082GAAc.560C>A (p.Ala187Asp)
17g.80105762C=CA2277811221GAAc.560C= (p.Ala187=)
17g.80105762C>GCA8814928GAAc.560C>G (p.Ala187Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80105762C>TCA401362084GAAc.560C>T (p.Ala187Val)
17g.80105763T>ACA502177472GAAc.561T>A (p.Ala187=)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.80105763T>CCA502177474GAAc.561T>C (p.Ala187=)
17g.80105763T>GCA502177476GAAc.561T>G (p.Ala187=)
17g.80105763T=CA2277811222GAAc.561T= (p.Ala187=)
17g.80105764A=CA2277811223GAAc.562A= (p.Asn188=)
17g.80105764A>CCA401362086GAAc.562A>C (p.Asn188His)
17g.80105764A>GCA294888081GAAc.562A>G (p.Asn188Asp)
dbSNP gnomAD v4
17g.80105764A>TCA401362088GAAc.562A>T (p.Asn188Tyr)
17g.80105765A>CCA401362090GAAc.563A>C (p.Asn188Thr)
17g.80105765A>GCA401362092GAAc.563A>G (p.Asn188Ser)
COSMIC
17g.80105765A>TCA401362094GAAc.563A>T (p.Asn188Ile)
17g.80105766C>ACA401362095GAAc.564C>A (p.Asn188Lys)
17g.80105766C=CA2277811224GAAc.564C= (p.Asn188=)
17g.80105766C>GCA401362097GAAc.564C>G (p.Asn188Lys)
dbSNP gnomAD v3 gnomAD v4
17g.80105766C>TCA502177484GAAc.564C>T (p.Asn188=)
ClinVar dbSNP gnomAD v4
17g.80105767A>CCA502177485GAAc.565A>C (p.Arg189=)
17g.80105767A>GCA401362099GAAc.565A>G (p.Arg189Gly)
17g.80105767A>TCA401362100GAAc.565A>T (p.Arg189Trp)
17g.80105768G>ACA401362102GAAc.566G>A (p.Arg189Lys)
ClinVar dbSNP
17g.80105768G>CCA401362104GAAc.566G>C (p.Arg189Thr)
17g.80105768G=CA2277811225GAAc.566G= (p.Arg189=)
17g.80105768G>TCA401362106GAAc.566G>T (p.Arg189Met)
gnomAD v4
17g.80105769G>ACA502177491GAAc.567G>A (p.Arg189=)
ClinVar gnomAD v4
17g.80105769G>CCA401362108GAAc.567G>C (p.Arg189Ser)
17g.80105769G>TCA401362111GAAc.567G>T (p.Arg189Ser)
gnomAD v4
17g.80105770C>ACA401362112GAAc.568C>A (p.Arg190Ser)
17g.80105770C=CA2277811226GAAc.568C= (p.Arg190=)
17g.80105770C>GCA401362114GAAc.568C>G (p.Arg190Gly)
17g.80105770C>TCA8814929GAAc.568C>T (p.Arg190Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched