Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.123671559G>ACA482265876TCTN2c.135G>A (p.Leu45=)
c.161G>A (p.Trp54Ter)
c.-648G>A (n.-648G>A)
12g.123671559G>CCA482265877TCTN2c.135G>C (p.Leu45=)
c.161G>C (p.Trp54Ser)
c.-648G>C (n.-648G>C)
12g.123671559G>TCA482265878TCTN2c.135G>T (p.Leu45=)
c.161G>T (p.Trp54Leu)
c.-648G>T (n.-648G>T)
12g.123671560G>ACA387155065TCTN2c.136G>A (p.Val46Ile)
c.162G>A (p.Trp54Ter)
c.-647G>A (n.-647G>A)
12g.123671560G>CCA387155066TCTN2c.136G>C (p.Val46Leu)
c.162G>C (p.Trp54Cys)
c.-647G>C (n.-647G>C)
12g.123671560G>TCA387155067TCTN2c.136G>T (p.Val46Phe)
c.162G>T (p.Trp54Cys)
c.-647G>T (n.-647G>T)
12g.123671561T>ACA387155068TCTN2c.137T>A (p.Val46Asp)
c.163T>A (p.Ser55Thr)
c.-646T>A (n.-646T>A)
12g.123671561T>CCA387155069TCTN2c.137T>C (p.Val46Ala)
c.163T>C (p.Ser55Pro)
c.-646T>C (n.-646T>C)
12g.123671561T>GCA387155070TCTN2c.137T>G (p.Val46Gly)
c.163T>G (p.Ser55Ala)
c.-646T>G (n.-646T>G)
 dbSNP gnomAD v2 gnomAD v4
12g.123671561T=CA2068962205TCTN2c.137T= (p.Val46=)
c.163T= (p.Ser55=)
c.-646T= (n.-646T=)
12g.123671562C>ACA482265880TCTN2c.138C>A (p.Val46=)
c.164C>A (p.Ser55Ter)
c.-645C>A (n.-645C>A)
 dbSNP gnomAD v2 gnomAD v4
12g.123671562C=CA2068962206TCTN2c.138C= (p.Val46=)
c.164C= (p.Ser55=)
c.-645C= (n.-645C=)
12g.123671562C>GCA482265881TCTN2c.138C>G (p.Val46=)
c.164C>G (p.Ser55Trp)
c.-645C>G (n.-645C>G)
12g.123671562C>TCA482265879TCTN2c.138C>T (p.Val46=)
c.164C>T (p.Ser55Leu)
c.-645C>T (n.-645C>T)
12g.123671563G>ACA387155071TCTN2c.139G>A (p.Gly47Arg)
c.165G>A (p.Ser55=)
c.-644G>A (n.-644G>A)
12g.123671563G>CCA387155072TCTN2c.139G>C (p.Gly47Arg)
c.165G>C (p.Ser55=)
c.-644G>C (n.-644G>C)
 dbSNP gnomAD v4
12g.123671563G=CA2068962207TCTN2c.139G= (p.Gly47=)
c.165G= (p.Ser55=)
c.-644G= (n.-644G=)
12g.123671563G>TCA387155073TCTN2c.139G>T (p.Gly47Ter)
c.165G>T (p.Ser55=)
c.-644G>T (n.-644G>T)
12g.123671564dupCA2621687738TCTN2c.140dup (p.Asp48ArgfsTer30)
c.166dup (p.Glu56GlyfsTer?)
c.-643dup (n.-643dup)
 gnomAD v4
12g.123671564G>ACA387155076TCTN2c.140G>A (p.Gly47Glu)
c.166G>A (p.Glu56Lys)
c.-643G>A (n.-643G>A)
12g.123671564G>CCA387155075TCTN2c.140G>C (p.Gly47Ala)
c.166G>C (p.Glu56Gln)
c.-643G>C (n.-643G>C)
12g.123671564G>TCA387155074TCTN2c.140G>T (p.Gly47Val)
c.166G>T (p.Glu56Ter)
c.-643G>T (n.-643G>T)
12g.123671565A>CCA482265882TCTN2c.141A>C (p.Gly47=)
c.167A>C (p.Glu56Ala)
c.-642A>C (n.-642A>C)
12g.123671565A>GCA482265884TCTN2c.141A>G (p.Gly47=)
c.167A>G (p.Glu56Gly)
c.-642A>G (n.-642A>G)
 gnomAD v4
12g.123671565A>TCA482265883TCTN2c.141A>T (p.Gly47=)
c.167A>T (p.Glu56Val)
c.-642A>T (n.-642A>T)
12g.123671566G>ACA387155079TCTN2c.142G>A (p.Asp48Asn)
c.168G>A (p.Glu56=)
c.-641G>A (n.-641G>A)
12g.123671566G>CCA387155077TCTN2c.142G>C (p.Asp48His)
c.168G>C (p.Glu56Asp)
c.-641G>C (n.-641G>C)
 COSMIC
12g.123671566G>TCA387155078TCTN2c.142G>T (p.Asp48Tyr)
c.168G>T (p.Glu56Asp)
c.-641G>T (n.-641G>T)
12g.123671567A>CCA387155080TCTN2c.143A>C (p.Asp48Ala)
c.169A>C (p.Thr57Pro)
c.-640A>C (n.-640A>C)
12g.123671567A>GCA387155081TCTN2c.143A>G (p.Asp48Gly)
c.169A>G (p.Thr57Ala)
c.-640A>G (n.-640A>G)
12g.123671567A>TCA387155082TCTN2c.143A>T (p.Asp48Val)
c.169A>T (p.Thr57Ser)
c.-640A>T (n.-640A>T)
12g.123671568C>ACA387155083TCTN2c.144C>A (p.Asp48Glu)
c.170C>A (p.Thr57Lys)
c.-639C>A (n.-639C>A)
12g.123671568C>GCA387155084TCTN2c.144C>G (p.Asp48Glu)
c.170C>G (p.Thr57Arg)
c.-639C>G (n.-639C>G)
12g.123671568C>TCA482265885TCTN2c.144C>T (p.Asp48=)
c.170C>T (p.Thr57Ile)
c.-639C>T (n.-639C>T)
12g.123671569A>CCA387155085TCTN2c.145A>C (p.Thr49Pro)
c.171A>C (p.Thr57=)
c.-638A>C (n.-638A>C)
12g.123671569A>GCA387155087TCTN2c.145A>G (p.Thr49Ala)
c.171A>G (p.Thr57=)
c.-638A>G (n.-638A>G)
12g.123671569A>TCA387155086TCTN2c.145A>T (p.Thr49Ser)
c.171A>T (p.Thr57=)
c.-638A>T (n.-638A>T)
12g.123671570C>ACA387155088TCTN2c.146C>A (p.Thr49Asn)
c.172C>A (p.Pro58Thr)
c.-637C>A (n.-637C>A)
12g.123671570C=CA2068962208TCTN2c.146C= (p.Thr49=)
c.172C= (p.Pro58=)
c.-637C= (n.-637C=)
12g.123671570C>GCA15743462TCTN2c.146C>G (p.Thr49Ser)
c.172C>G (p.Pro58Ala)
c.-637C>G (n.-637C>G)
 dbSNP gnomAD v2 gnomAD v4
12g.123671570C>TCA387155089TCTN2c.146C>T (p.Thr49Ile)
c.172C>T (p.Pro58Ser)
c.-637C>T (n.-637C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.123671571C>ACA482265886TCTN2c.147C>A (p.Thr49=)
c.173C>A (p.Pro58Gln)
c.-636C>A (n.-636C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.123671571C=CA2068962209TCTN2c.147C= (p.Thr49=)
c.173C= (p.Pro58=)
c.-636C= (n.-636C=)
12g.123671571C>GCA482265887TCTN2c.147C>G (p.Thr49=)
c.173C>G (p.Pro58Arg)
c.-636C>G (n.-636C>G)
 dbSNP
12g.123671571C>TCA6860791TCTN2c.147C>T (p.Thr49=)
c.173C>T (p.Pro58Leu)
c.-636C>T (n.-636C>T)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12g.123671572G>ACA245182870TCTN2c.148G>A (p.Glu50Lys)
c.174G>A (p.Pro58=)
c.-635G>A (n.-635G>A)
 ClinVar dbSNP gnomAD v4
12g.123671572G>CCA387155091TCTN2c.148G>C (p.Glu50Gln)
c.174G>C (p.Pro58=)
c.-635G>C (n.-635G>C)
12g.123671572G=CA2068962210TCTN2c.148G= (p.Glu50=)
c.174G= (p.Pro58=)
c.-635G= (n.-635G=)
12g.123671572G>TCA387155090TCTN2c.148G>T (p.Glu50Ter)
c.174G>T (p.Pro58=)
c.-635G>T (n.-635G>T)
12g.123671573A>CCA387155092TCTN2c.149A>C (p.Glu50Ala)
c.175A>C (p.Arg59=)
c.-634A>C (n.-634A>C)

Number of alleles fetched