Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102851253_102856067delCA916084430PAHc.510-735_912+434del
c.495-735_897+434del
ClinVar
12g.102855155_102855353delinsTGGCA2573147930PAHc.510-21_687delinsCCA
c.495-21_672delinsCCA
n.606-21_783delinsCCA
ClinVar dbSNP
12g.102855177_102855353delCA16020833PAHc.510-19_667del
c.495-19_652del
n.606-19_763del
12g.102855307_102855308delCA2580085716PAHc.535_536del (p.Tyr179HisfsTer20)
c.520_521del (p.Tyr174HisfsTer20)
n.631_632del
n.556_557del
ClinVar
12g.102855307A=CA2059449787PAHc.535T= (p.Tyr179=)
c.520T= (p.Tyr174=)
n.631T=
n.556T=
12g.102855307A>CCA386296979PAHc.535T>G (p.Tyr179Asp)
c.520T>G (p.Tyr174Asp)
n.631T>G
n.556T>G
12g.102855307A>GCA229615PAHc.535T>C (p.Tyr179His)
c.520T>C (p.Tyr174His)
n.631T>C
n.556T>C
ClinVar dbSNP gnomAD v4
12g.102855307A>TCA229613PAHc.535T>A (p.Tyr179Asn)
c.520T>A (p.Tyr174Asn)
n.631T>A
n.556T>A
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.102855308T>ACA386296984PAHc.534A>T (p.Glu178Asp)
c.519A>T (p.Glu173Asp)
n.630A>T
n.555A>T
12g.102855308T>CCA481578621PAHc.534A>G (p.Glu178=)
c.519A>G (p.Glu173=)
n.630A>G
n.555A>G
12g.102855308T>GCA386296986PAHc.534A>C (p.Glu178Asp)
c.519A>C (p.Glu173Asp)
n.630A>C
n.555A>C
12g.102855309T>ACA229611PAHc.533A>T (p.Glu178Val)
c.518A>T (p.Glu173Val)
n.629A>T
n.554A>T
ClinVar dbSNP
12g.102855309T>CCA273110PAHc.533A>G (p.Glu178Gly)
c.518A>G (p.Glu173Gly)
n.629A>G
n.554A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102855309T>GCA386296990PAHc.533A>C (p.Glu178Ala)
c.518A>C (p.Glu173Ala)
n.629A>C
n.554A>C
12g.102855309T=CA2059449797PAHc.533A= (p.Glu178=)
c.518A= (p.Glu173=)
n.629A=
n.554A=
12g.102855310C>ACA386296993PAHc.532G>T (p.Glu178Ter)
c.517G>T (p.Glu173Ter)
n.628G>T
n.553G>T
12g.102855310C=CA2059449802PAHc.532G= (p.Glu178=)
c.517G= (p.Glu173=)
n.628G=
n.553G=
12g.102855310C>GCA386296995PAHc.532G>C (p.Glu178Gln)
c.517G>C (p.Glu173Gln)
n.628G>C
n.553G>C
12g.102855310C>TCA16020812PAHc.532G>A (p.Glu178Lys)
c.517G>A (p.Glu173Lys)
n.628G>A
n.553G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102855311C>ACA481578623PAHc.531G>T (p.Val177=)
c.516G>T (p.Val172=)
n.627G>T
n.552G>T
12g.102855311C>GCA481578624PAHc.531G>C (p.Val177=)
c.516G>C (p.Val172=)
n.627G>C
n.552G>C
12g.102855311C>TCA481578625PAHc.531G>A (p.Val177=)
c.516G>A (p.Val172=)
n.627G>A
n.552G>A
COSMIC
12g.102855312A>CCA386297000PAHc.530T>G (p.Val177Gly)
c.515T>G (p.Val172Gly)
n.626T>G
n.551T>G
12g.102855312A>GCA16020811PAHc.530T>C (p.Val177Ala)
c.515T>C (p.Val172Ala)
n.626T>C
n.551T>C
12g.102855312A>TCA386296998PAHc.530T>A (p.Val177Glu)
c.515T>A (p.Val172Glu)
n.626T>A
n.551T>A
12g.102855312_102855313insTGGTGTCCACGCGTGCCACAGTAATCTCTGCGCCCAGTTTCTTTGCGAGCATACAACTTGTCATGTTGCGGCTCTCGTCGGGGGTCACCGCCACGAAGAGTTTGCATTGTTCTACGCCGATTTCTTTCA2554068227PAHc.529_530insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA (p.Val177GlufsTer65)
c.514_515insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA (p.Val172GlufsTer65)
n.625_626insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA
n.550_551insAAAGAAATCGGCGTAGAACAATGCAAACTCTTCGTGGCGGTGACCCCCGACGAGAGCCGCAACATGACAAGTTGTATGCTCGCAAAGAAACTGGGCGCAGAGATTACTGTGGCACGCGTGGACACCA
12g.102855313C>ACA386297003PAHc.529G>T (p.Val177Leu)
c.514G>T (p.Val172Leu)
n.625G>T
n.550G>T
12g.102855313C=CA2059449810PAHc.529G= (p.Val177=)
c.514G= (p.Val172=)
n.625G=
n.550G=
12g.102855313C>GCA229610PAHc.529G>C (p.Val177Leu)
c.514G>C (p.Val172Leu)
n.625G>C
n.550G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102855313C>TCA229609PAHc.529G>A (p.Val177Met)
c.514G>A (p.Val172Met)
n.625G>A
n.550G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102855314T>ACA481578626PAHc.528A>T (p.Arg176=)
c.513A>T (p.Arg171=)
n.624A>T
n.549A>T
12g.102855314T>CCA481578628PAHc.528A>G (p.Arg176=)
c.513A>G (p.Arg171=)
n.624A>G
n.549A>G
12g.102855314T>GCA481578627PAHc.528A>C (p.Arg176=)
c.513A>C (p.Arg171=)
n.624A>C
n.549A>C
12g.102855315C>ACA114371PAHc.527G>T (p.Arg176Leu)
c.512G>T (p.Arg171Leu)
n.623G>T
n.548G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.102855315C=CA2059449817PAHc.527G= (p.Arg176=)
c.512G= (p.Arg171=)
n.623G=
n.548G=
12g.102855315C>GCA229608PAHc.527G>C (p.Arg176Pro)
c.512G>C (p.Arg171Pro)
n.623G>C
n.548G>C
ClinVar dbSNP
12g.102855315C>TCA229606PAHc.527G>A (p.Arg176Gln)
c.512G>A (p.Arg171Gln)
n.623G>A
n.548G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102855316G>ACA275338PAHc.526C>T (p.Arg176Ter)
c.511C>T (p.Arg171Ter)
n.622C>T
n.547C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102855316G>CCA386297012PAHc.526C>G (p.Arg176Gly)
c.511C>G (p.Arg171Gly)
n.622C>G
n.547C>G
12g.102855316G=CA2059449829PAHc.526C= (p.Arg176=)
c.511C= (p.Arg171=)
n.622C=
n.547C=
12g.102855316G>TCA481578629PAHc.526C>A (p.Arg176=)
c.511C>A (p.Arg171=)
n.622C>A
n.547C>A
gnomAD v4
12g.102855317A>CCA481578630PAHc.525T>G (p.Pro175=)
c.510T>G (p.Pro170=)
n.621T>G
n.546T>G
12g.102855317A>GCA481578631PAHc.525T>C (p.Pro175=)
c.510T>C (p.Pro170=)
n.621T>C
n.546T>C
12g.102855317A>TCA481578632PAHc.525T>A (p.Pro175=)
c.510T>A (p.Pro170=)
n.621T>A
n.546T>A
12g.102855318G>ACA386297015PAHc.524C>T (p.Pro175Leu)
c.509C>T (p.Pro170Leu)
n.620C>T
n.545C>T
COSMIC
12g.102855318G>CCA386297017PAHc.524C>G (p.Pro175Arg)
c.509C>G (p.Pro170Arg)
n.620C>G
n.545C>G
dbSNP gnomAD v3 gnomAD v4
12g.102855318G=CA2059449835PAHc.524C= (p.Pro175=)
c.509C= (p.Pro170=)
n.620C=
n.545C=
12g.102855318G>TCA386297019PAHc.524C>A (p.Pro175His)
c.509C>A (p.Pro170His)
n.620C>A
n.545C>A
12g.102855319G>ACA16020810PAHc.523C>T (p.Pro175Ser)
c.508C>T (p.Pro170Ser)
n.619C>T
n.544C>T
ClinVar dbSNP
12g.102855319G>CCA229605PAHc.523C>G (p.Pro175Ala)
c.508C>G (p.Pro170Ala)
n.619C>G
n.544C>G
ClinVar dbSNP

Number of alleles fetched