Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91313354_91313366delCA2575603437CCDC88Cc.2450_2462del (p.Glu817GlyfsTer?)
c.2342_2354del (p.Glu781GlyfsTer?)
n.2578_2590del
n.2576_2588del
14g.91313360T>ACA390630008CCDC88Cc.2456A>T (p.Asp819Val)
c.2348A>T (p.Asp783Val)
n.2584A>T
n.2582A>T
14g.91313360T>CCA171514CCDC88Cc.2456A>G (p.Asp819Gly)
c.2348A>G (p.Asp783Gly)
n.2584A>G
n.2582A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91313360T>GCA390630009CCDC88Cc.2456A>C (p.Asp819Ala)
c.2348A>C (p.Asp783Ala)
n.2584A>C
n.2582A>C
14g.91313360T=CA2154878727CCDC88Cc.2456A= (p.Asp819=)
c.2348A= (p.Asp783=)
n.2584A=
n.2582A=
14g.91313361C>ACA390630010CCDC88Cc.2455G>T (p.Asp819Tyr)
c.2347G>T (p.Asp783Tyr)
n.2583G>T
n.2581G>T
14g.91313361C>GCA390630011CCDC88Cc.2455G>C (p.Asp819His)
c.2347G>C (p.Asp783His)
n.2583G>C
n.2581G>C
14g.91313361C>TCA390630012CCDC88Cc.2455G>A (p.Asp819Asn)
c.2347G>A (p.Asp783Asn)
n.2583G>A
n.2581G>A
 gnomAD v4
14g.91313362C>ACA390630013CCDC88Cc.2454G>T (p.Lys818Asn)
c.2346G>T (p.Lys782Asn)
n.2582G>T
n.2580G>T
14g.91313362C>GCA390630014CCDC88Cc.2454G>C (p.Lys818Asn)
c.2346G>C (p.Lys782Asn)
n.2582G>C
n.2580G>C
14g.91313362C>TCA487829558CCDC88Cc.2454G>A (p.Lys818=)
c.2346G>A (p.Lys782=)
n.2582G>A
n.2580G>A
 gnomAD v4
14g.91313363T>ACA390630015CCDC88Cc.2453A>T (p.Lys818Met)
c.2345A>T (p.Lys782Met)
n.2581A>T
n.2579A>T
14g.91313363T>CCA390630016CCDC88Cc.2453A>G (p.Lys818Arg)
c.2345A>G (p.Lys782Arg)
n.2581A>G
n.2579A>G
14g.91313363T>GCA390630017CCDC88Cc.2453A>C (p.Lys818Thr)
c.2345A>C (p.Lys782Thr)
n.2581A>C
n.2579A>C
14g.91313364T>ACA390630019CCDC88Cc.2452A>T (p.Lys818Ter)
c.2344A>T (p.Lys782Ter)
n.2580A>T
n.2578A>T
14g.91313364T>CCA390630020CCDC88Cc.2452A>G (p.Lys818Glu)
c.2344A>G (p.Lys782Glu)
n.2580A>G
n.2578A>G
14g.91313364T>GCA390630018CCDC88Cc.2452A>C (p.Lys818Gln)
c.2344A>C (p.Lys782Gln)
n.2580A>C
n.2578A>C
 dbSNP
14g.91313364T=CA2154878731CCDC88Cc.2452A= (p.Lys818=)
c.2344A= (p.Lys782=)
n.2580A=
n.2578A=
14g.91313365C>ACA390630021CCDC88Cc.2451G>T (p.Glu817Asp)
c.2343G>T (p.Glu781Asp)
n.2579G>T
n.2577G>T
14g.91313365C>GCA390630022CCDC88Cc.2451G>C (p.Glu817Asp)
c.2343G>C (p.Glu781Asp)
n.2579G>C
n.2577G>C
14g.91313365C>TCA487829559CCDC88Cc.2451G>A (p.Glu817=)
c.2343G>A (p.Glu781=)
n.2579G>A
n.2577G>A
 gnomAD v4
14g.91313366T>ACA390630023CCDC88Cc.2450A>T (p.Glu817Val)
c.2342A>T (p.Glu781Val)
n.2578A>T
n.2576A>T
14g.91313366T>CCA390630024CCDC88Cc.2450A>G (p.Glu817Gly)
c.2342A>G (p.Glu781Gly)
n.2578A>G
n.2576A>G
14g.91313366T>GCA390630025CCDC88Cc.2450A>C (p.Glu817Ala)
c.2342A>C (p.Glu781Ala)
n.2578A>C
n.2576A>C
14g.91313367C>ACA390630026CCDC88Cc.2449G>T (p.Glu817Ter)
c.2341G>T (p.Glu781Ter)
n.2577G>T
n.2575G>T
14g.91313367C=CA2154878733CCDC88Cc.2449G= (p.Glu817=)
c.2341G= (p.Glu781=)
n.2577G=
n.2575G=
14g.91313367C>GCA390630027CCDC88Cc.2449G>C (p.Glu817Gln)
c.2341G>C (p.Glu781Gln)
n.2577G>C
n.2575G>C
14g.91313367C>TCA7309646CCDC88Cc.2449G>A (p.Glu817Lys)
c.2341G>A (p.Glu781Lys)
n.2577G>A
n.2575G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91313368G>ACA7309647CCDC88Cc.2448C>T (p.Ala816=)
c.2340C>T (p.Ala780=)
n.2576C>T
n.2574C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91313368G>CCA487829561CCDC88Cc.2448C>G (p.Ala816=)
c.2340C>G (p.Ala780=)
n.2576C>G
n.2574C>G
 gnomAD v4
14g.91313368G=CA2154878736CCDC88Cc.2448C= (p.Ala816=)
c.2340C= (p.Ala780=)
n.2576C=
n.2574C=
14g.91313368G>TCA487829562CCDC88Cc.2448C>A (p.Ala816=)
c.2340C>A (p.Ala780=)
n.2576C>A
n.2574C>A
 ClinVar dbSNP gnomAD v4
14g.91313369G>ACA390630028CCDC88Cc.2447C>T (p.Ala816Val)
c.2339C>T (p.Ala780Val)
n.2575C>T
n.2573C>T
 gnomAD v4
14g.91313369G>CCA390630029CCDC88Cc.2447C>G (p.Ala816Gly)
c.2339C>G (p.Ala780Gly)
n.2575C>G
n.2573C>G
 gnomAD v4
14g.91313369G=CA2154878741CCDC88Cc.2447C= (p.Ala816=)
c.2339C= (p.Ala780=)
n.2575C=
n.2573C=
14g.91313369G>TCA265569614CCDC88Cc.2447C>A (p.Ala816Asp)
c.2339C>A (p.Ala780Asp)
n.2575C>A
n.2573C>A
 dbSNP gnomAD v4
14g.91313370C>ACA390630030CCDC88Cc.2446G>T (p.Ala816Ser)
c.2338G>T (p.Ala780Ser)
n.2574G>T
n.2572G>T
 gnomAD v4
14g.91313370C=CA2154878745CCDC88Cc.2446G= (p.Ala816=)
c.2338G= (p.Ala780=)
n.2574G=
n.2572G=
14g.91313370C>GCA390630031CCDC88Cc.2446G>C (p.Ala816Pro)
c.2338G>C (p.Ala780Pro)
n.2574G>C
n.2572G>C
14g.91313370C>TCA7309648CCDC88Cc.2446G>A (p.Ala816Thr)
c.2338G>A (p.Ala780Thr)
n.2574G>A
n.2572G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91313374dupCA616112342CCDC88Cc.2446dup (p.Ala816GlyfsTer19)
c.2338dup (p.Ala780GlyfsTer19)
n.2574dup
n.2572dup
 dbSNP gnomAD v2
14g.91313374delCA2626130723CCDC88Cc.2446del (p.Ala816ProfsTer?)
c.2338del (p.Ala780ProfsTer?)
n.2574del
n.2572del
 gnomAD v4
14g.91313371C>ACA487829567CCDC88Cc.2445G>T (p.Gly815=)
c.2337G>T (p.Gly779=)
n.2573G>T
n.2571G>T
14g.91313371C>GCA487829569CCDC88Cc.2445G>C (p.Gly815=)
c.2337G>C (p.Gly779=)
n.2573G>C
n.2571G>C
14g.91313371C>TCA487829568CCDC88Cc.2445G>A (p.Gly815=)
c.2337G>A (p.Gly779=)
n.2573G>A
n.2571G>A
14g.91313372C>ACA390630032CCDC88Cc.2444G>T (p.Gly815Val)
c.2336G>T (p.Gly779Val)
n.2572G>T
n.2570G>T
14g.91313372C>GCA390630033CCDC88Cc.2444G>C (p.Gly815Ala)
c.2336G>C (p.Gly779Ala)
n.2572G>C
n.2570G>C
14g.91313372C>TCA390630034CCDC88Cc.2444G>A (p.Gly815Glu)
c.2336G>A (p.Gly779Glu)
n.2572G>A
n.2570G>A
14g.91313373C>ACA390630035CCDC88Cc.2443G>T (p.Gly815Trp)
c.2335G>T (p.Gly779Trp)
n.2571G>T
n.2569G>T
14g.91313373C>GCA390630036CCDC88Cc.2443G>C (p.Gly815Arg)
c.2335G>C (p.Gly779Arg)
n.2571G>C
n.2569G>C
 COSMIC COSMIC

Number of alleles fetched