Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214937508A>CCA350792853ABCA12,SNHG31c.7542+2T>G (n.7542+2T>G)
c.6588+2T>G (n.6588+2T>G)
n.7842+2T>G
n.322-10317A>C
c.7551+2T>G (n.7551+2T>G)
n.8040+2T>G
2g.214937508A>GCA350792854ABCA12,SNHG31c.7542+2T>C (n.7542+2T>C)
c.6588+2T>C (n.6588+2T>C)
n.7842+2T>C
n.322-10317A>G
c.7551+2T>C (n.7551+2T>C)
n.8040+2T>C
2g.214937508A>TCA350792855ABCA12,SNHG31c.7542+2T>A (n.7542+2T>A)
c.6588+2T>A (n.6588+2T>A)
n.7842+2T>A
n.322-10317A>T
c.7551+2T>A (n.7551+2T>A)
n.8040+2T>A
2g.214937508_214937511delinsACTTCA1327142786ABCA12,SNHG31c.7541_7542+2delinsAAGT
c.6587_6588+2delinsAAGT
n.7841_7842+2delinsAAGT
n.322-10317_322-10314delinsACTT
c.7550_7551+2delinsAAGT
n.8039_8040+2delinsAAGT
2g.214937509C>ACA350792858ABCA12,SNHG31c.7542+1G>T (n.7542+1G>T)
c.6588+1G>T (n.6588+1G>T)
n.7842+1G>T
n.322-10316C>A
c.7551+1G>T (n.7551+1G>T)
n.8040+1G>T
 gnomAD v4
2g.214937509C>GCA350792857ABCA12,SNHG31c.7542+1G>C (n.7542+1G>C)
c.6588+1G>C (n.6588+1G>C)
n.7842+1G>C
n.322-10316C>G
c.7551+1G>C (n.7551+1G>C)
n.8040+1G>C
2g.214937509C>TCA350792856ABCA12,SNHG31c.7542+1G>A (n.7542+1G>A)
c.6588+1G>A (n.6588+1G>A)
n.7842+1G>A
n.322-10316C>T
c.7551+1G>A (n.7551+1G>A)
n.8040+1G>A
 ClinVar COSMIC
2g.214937509_214937511delCA2090621ABCA12,SNHG31c.7541_7542+1del
c.6587_6588+1del
n.7841_7842+1del
n.322-10316_322-10314del
c.7550_7551+1del
n.8039_8040+1del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214937510T>ACA350792859ABCA12,SNHG31c.7542A>T (p.Lys2514Asn)
c.6588A>T (p.Lys2196Asn)
n.7842A>T
n.322-10315T>A
c.7551A>T (p.Lys2517Asn)
n.8040A>T
2g.214937510T>CCA431319200ABCA12,SNHG31c.7542A>G (p.Lys2514=)
c.6588A>G (p.Lys2196=)
n.7842A>G
n.322-10315T>C
c.7551A>G (p.Lys2517=)
n.8040A>G
2g.214937510T>GCA350792860ABCA12,SNHG31c.7542A>C (p.Lys2514Asn)
c.6588A>C (p.Lys2196Asn)
n.7842A>C
n.322-10315T>G
c.7551A>C (p.Lys2517Asn)
n.8040A>C
 dbSNP
2g.214937510T=CA1327142787ABCA12,SNHG31c.7542A= (p.Lys2514=)
c.6588A= (p.Lys2196=)
n.7842A=
n.322-10315T=
c.7551A= (p.Lys2517=)
n.8040A=
2g.214937513delCA2662974560ABCA12,SNHG31c.7542del (p.Asp2515IlefsTer7)
c.6588del (p.Asp2197IlefsTer7)
n.7842del
n.322-10312del
c.7551del (p.Asp2518IlefsTer7)
n.8040del
 gnomAD v4
2g.214937511_214937513delCA350792861ABCA12,SNHG31c.7540_7542del (p.Lys2514del)
c.6586_6588del (p.Lys2196del)
n.7840_7842del
n.322-10314_322-10312del
c.7549_7551del (p.Lys2517del)
n.8038_8040del
2g.214937511T>ACA350792862ABCA12,SNHG31c.7541A>T (p.Lys2514Ile)
c.6587A>T (p.Lys2196Ile)
n.7841A>T
n.322-10314T>A
c.7550A>T (p.Lys2517Ile)
n.8039A>T
2g.214937511T>CCA350792863ABCA12,SNHG31c.7541A>G (p.Lys2514Arg)
c.6587A>G (p.Lys2196Arg)
n.7841A>G
n.322-10314T>C
c.7550A>G (p.Lys2517Arg)
n.8039A>G
2g.214937511T>GCA350792864ABCA12,SNHG31c.7541A>C (p.Lys2514Thr)
c.6587A>C (p.Lys2196Thr)
n.7841A>C
n.322-10314T>G
c.7550A>C (p.Lys2517Thr)
n.8039A>C
2g.214937512T>ACA350792865ABCA12,SNHG31c.7540A>T (p.Lys2514Ter)
c.6586A>T (p.Lys2196Ter)
n.7840A>T
n.322-10313T>A
c.7549A>T (p.Lys2517Ter)
n.8038A>T
 COSMIC COSMIC
2g.214937512T>CCA350792866ABCA12,SNHG31c.7540A>G (p.Lys2514Glu)
c.6586A>G (p.Lys2196Glu)
n.7840A>G
n.322-10313T>C
c.7549A>G (p.Lys2517Glu)
n.8038A>G
2g.214937512T>GCA2090622ABCA12,SNHG31c.7540A>C (p.Lys2514Gln)
c.6586A>C (p.Lys2196Gln)
n.7840A>C
n.322-10313T>G
c.7549A>C (p.Lys2517Gln)
n.8038A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214937512T=CA1327142788ABCA12,SNHG31c.7540A= (p.Lys2514=)
c.6586A= (p.Lys2196=)
n.7840A=
n.322-10313T=
c.7549A= (p.Lys2517=)
n.8038A=
2g.214937513T>ACA350792867ABCA12,SNHG31c.7539A>T (p.Leu2513Phe)
c.6585A>T (p.Leu2195Phe)
n.7839A>T
n.322-10312T>A
c.7548A>T (p.Leu2516Phe)
n.8037A>T
2g.214937513T>CCA431319201ABCA12,SNHG31c.7539A>G (p.Leu2513=)
c.6585A>G (p.Leu2195=)
n.7839A>G
n.322-10312T>C
c.7548A>G (p.Leu2516=)
n.8037A>G
2g.214937513T>GCA350792868ABCA12,SNHG31c.7539A>C (p.Leu2513Phe)
c.6585A>C (p.Leu2195Phe)
n.7839A>C
n.322-10312T>G
c.7548A>C (p.Leu2516Phe)
n.8037A>C
2g.214937514A>CCA350792869ABCA12,SNHG31c.7538T>G (p.Leu2513Ter)
c.6584T>G (p.Leu2195Ter)
n.7838T>G
n.322-10311A>C
c.7547T>G (p.Leu2516Ter)
n.8036T>G
2g.214937514A>GCA350792870ABCA12,SNHG31c.7538T>C (p.Leu2513Ser)
c.6584T>C (p.Leu2195Ser)
n.7838T>C
n.322-10311A>G
c.7547T>C (p.Leu2516Ser)
n.8036T>C
 gnomAD v4
2g.214937514A>TCA350792871ABCA12,SNHG31c.7538T>A (p.Leu2513Ter)
c.6584T>A (p.Leu2195Ter)
n.7838T>A
n.322-10311A>T
c.7547T>A (p.Leu2516Ter)
n.8036T>A
2g.214937515A>CCA350792872ABCA12,SNHG31c.7537T>G (p.Leu2513Val)
c.6583T>G (p.Leu2195Val)
n.7837T>G
n.322-10310A>C
c.7546T>G (p.Leu2516Val)
n.8035T>G
2g.214937515A>GCA431319202ABCA12,SNHG31c.7537T>C (p.Leu2513=)
c.6583T>C (p.Leu2195=)
n.7837T>C
n.322-10310A>G
c.7546T>C (p.Leu2516=)
n.8035T>C
2g.214937515A>TCA350792873ABCA12,SNHG31c.7537T>A (p.Leu2513Ile)
c.6583T>A (p.Leu2195Ile)
n.7837T>A
n.322-10310A>T
c.7546T>A (p.Leu2516Ile)
n.8035T>A
2g.214937516G>ACA431319203ABCA12,SNHG31c.7536C>T (p.Tyr2512=)
c.6582C>T (p.Tyr2194=)
n.7836C>T
n.322-10309G>A
c.7545C>T (p.Tyr2515=)
n.8034C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.214937516G>CCA350792874ABCA12,SNHG31c.7536C>G (p.Tyr2512Ter)
c.6582C>G (p.Tyr2194Ter)
n.7836C>G
n.322-10309G>C
c.7545C>G (p.Tyr2515Ter)
n.8034C>G
2g.214937516G=CA1327142789ABCA12,SNHG31c.7536C= (p.Tyr2512=)
c.6582C= (p.Tyr2194=)
n.7836C=
n.322-10309G=
c.7545C= (p.Tyr2515=)
n.8034C=
2g.214937516G>TCA350792875ABCA12,SNHG31c.7536C>A (p.Tyr2512Ter)
c.6582C>A (p.Tyr2194Ter)
n.7836C>A
n.322-10309G>T
c.7545C>A (p.Tyr2515Ter)
n.8034C>A
 COSMIC COSMIC
2g.214937517T>ACA350792876ABCA12,SNHG31c.7535A>T (p.Tyr2512Phe)
c.6581A>T (p.Tyr2194Phe)
n.7835A>T
n.322-10308T>A
c.7544A>T (p.Tyr2515Phe)
n.8033A>T
2g.214937517T>CCA350792877ABCA12,SNHG31c.7535A>G (p.Tyr2512Cys)
c.6581A>G (p.Tyr2194Cys)
n.7835A>G
n.322-10308T>C
c.7544A>G (p.Tyr2515Cys)
n.8033A>G
2g.214937517T>GCA350792878ABCA12,SNHG31c.7535A>C (p.Tyr2512Ser)
c.6581A>C (p.Tyr2194Ser)
n.7835A>C
n.322-10308T>G
c.7544A>C (p.Tyr2515Ser)
n.8033A>C
2g.214937518A>CCA350792879ABCA12,SNHG31c.7534T>G (p.Tyr2512Asp)
c.6580T>G (p.Tyr2194Asp)
n.7834T>G
n.322-10307A>C
c.7543T>G (p.Tyr2515Asp)
n.8032T>G
2g.214937518A>GCA350792881ABCA12,SNHG31c.7534T>C (p.Tyr2512His)
c.6580T>C (p.Tyr2194His)
n.7834T>C
n.322-10307A>G
c.7543T>C (p.Tyr2515His)
n.8032T>C
2g.214937518A>TCA350792880ABCA12,SNHG31c.7534T>A (p.Tyr2512Asn)
c.6580T>A (p.Tyr2194Asn)
n.7834T>A
n.322-10307A>T
c.7543T>A (p.Tyr2515Asn)
n.8032T>A
2g.214937519T>ACA431319205ABCA12,SNHG31c.7533A>T (p.Thr2511=)
c.6579A>T (p.Thr2193=)
n.7833A>T
n.322-10306T>A
c.7542A>T (p.Thr2514=)
n.8031A>T
2g.214937519T>CCA431319206ABCA12,SNHG31c.7533A>G (p.Thr2511=)
c.6579A>G (p.Thr2193=)
n.7833A>G
n.322-10306T>C
c.7542A>G (p.Thr2514=)
n.8031A>G
2g.214937519T>GCA431319207ABCA12,SNHG31c.7533A>C (p.Thr2511=)
c.6579A>C (p.Thr2193=)
n.7833A>C
n.322-10306T>G
c.7542A>C (p.Thr2514=)
n.8031A>C
2g.214937520G>ACA350792882ABCA12,SNHG31c.7532C>T (p.Thr2511Ile)
c.6578C>T (p.Thr2193Ile)
n.7832C>T
n.322-10305G>A
c.7541C>T (p.Thr2514Ile)
n.8030C>T
2g.214937520G>CCA350792883ABCA12,SNHG31c.7532C>G (p.Thr2511Arg)
c.6578C>G (p.Thr2193Arg)
n.7832C>G
n.322-10305G>C
c.7541C>G (p.Thr2514Arg)
n.8030C>G
2g.214937520G>TCA350792884ABCA12,SNHG31c.7532C>A (p.Thr2511Lys)
c.6578C>A (p.Thr2193Lys)
n.7832C>A
n.322-10305G>T
c.7541C>A (p.Thr2514Lys)
n.8030C>A
2g.214937521T>ACA350792885ABCA12,SNHG31c.7531A>T (p.Thr2511Ser)
c.6577A>T (p.Thr2193Ser)
n.7831A>T
n.322-10304T>A
c.7540A>T (p.Thr2514Ser)
n.8029A>T
2g.214937521T>CCA350792886ABCA12,SNHG31c.7531A>G (p.Thr2511Ala)
c.6577A>G (p.Thr2193Ala)
n.7831A>G
n.322-10304T>C
c.7540A>G (p.Thr2514Ala)
n.8029A>G
2g.214937521T>GCA65501893ABCA12,SNHG31c.7531A>C (p.Thr2511Pro)
c.6577A>C (p.Thr2193Pro)
n.7831A>C
n.322-10304T>G
c.7540A>C (p.Thr2514Pro)
n.8029A>C
 dbSNP COSMIC COSMIC
2g.214937521T=CA1327142790ABCA12,SNHG31c.7531A= (p.Thr2511=)
c.6577A= (p.Thr2193=)
n.7831A=
n.322-10304T=
c.7540A= (p.Thr2514=)
n.8029A=

Number of alleles fetched