Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102866594_102866662delinsACTGGCGGTAGTTGTAGGCAATGTCAGCAAACTGCTTCCGTCTTGCACGGTACACAGGATCTTTAAAACCA2059456968PAHc.443_509+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT
c.428_494+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT
n.539_605+2delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT
n.530+10800_530+10868delinsGTTTTAAAGATCCTGTGTACCGTGCAAGACGGAAGCAGTTTGCTGACATTGCCTACAACTACCGCCAGT
12g.102866596_102866663delCA229552PAHc.443_509+1del
c.428_494+1del
n.539_605+1del
n.530+10800_530+10867del
ClinVar dbSNP
12g.102866601_102866602insGAGGGCA386299459PAHc.505_506insCTCCC (p.Arg169ProfsTer28)
c.490_491insCTCCC (p.Arg164ProfsTer28)
n.601_602insCTCCC
n.530+10862_530+10863insCTCCC
dbSNP
12g.102866601_102866602insGGGGGGCA242485366PAHc.505_506insCCCCCC (p.Tyr168_Arg169insProPro)
c.490_491insCCCCCC (p.Tyr163_Arg164insProPro)
n.601_602insCCCCCC
n.530+10862_530+10863insCCCCCC
dbSNP
12g.102866601G>ACA481332086PAHc.504C>T (p.Tyr168=)
c.489C>T (p.Tyr163=)
n.600C>T
n.530+10861C>T
ClinVar dbSNP gnomAD v4
12g.102866601G>CCA386299465PAHc.504C>G (p.Tyr168Ter)
c.489C>G (p.Tyr163Ter)
n.600C>G
n.530+10861C>G
12g.102866601G=CA2059456974PAHc.504C= (p.Tyr168=)
c.489C= (p.Tyr163=)
n.600C=
n.530+10861C=
12g.102866601G>TCA267656PAHc.504C>A (p.Tyr168Ter)
c.489C>A (p.Tyr163Ter)
n.600C>A
n.530+10861C>A
ClinVar dbSNP
12g.102866601_102866602delinsGTCA2059456975PAHc.503_504delinsAC (p.Tyr168=)
c.488_489delinsAC (p.Tyr163=)
n.599_600delinsAC
n.530+10860_530+10861delinsAC
12g.102866601_102866605delinsATAGCCA2837240917PAHc.500_504delinsGCTAT (p.Asn167Ser)
c.485_489delinsGCTAT (p.Asn162Ser)
n.596_600delinsGCTAT
n.530+10857_530+10861delinsGCTAT
ClinVar
12g.102866602delCA229588PAHc.503del (p.Tyr168SerfsTer27)
c.488del (p.Tyr163SerfsTer27)
n.599del
n.530+10860del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.102866602T>ACA386299468PAHc.503A>T (p.Tyr168Phe)
c.488A>T (p.Tyr163Phe)
n.599A>T
n.530+10860A>T
12g.102866602T>CCA386299470PAHc.503A>G (p.Tyr168Cys)
c.488A>G (p.Tyr163Cys)
n.599A>G
n.530+10860A>G
12g.102866602T>GCA386299472PAHc.503A>C (p.Tyr168Ser)
c.488A>C (p.Tyr163Ser)
n.599A>C
n.530+10860A>C
dbSNP gnomAD v4
12g.102866602T=CA2059456976PAHc.503A= (p.Tyr168=)
c.488A= (p.Tyr163=)
n.599A=
n.530+10860A=
12g.102866602_102866603delCA645584085PAHc.502_503del (p.Tyr168ProfsTer?)
c.487_488del (p.Tyr163ProfsTer?)
n.598_599del
n.530+10859_530+10860del
COSMIC
12g.102866603A=CA2059456977PAHc.502T= (p.Tyr168=)
c.487T= (p.Tyr163=)
n.598T=
n.530+10859T=
12g.102866603A>CCA386299475PAHc.502T>G (p.Tyr168Asp)
c.487T>G (p.Tyr163Asp)
n.598T>G
n.530+10859T>G
12g.102866603A>GCA229586PAHc.502T>C (p.Tyr168His)
c.487T>C (p.Tyr163His)
n.598T>C
n.530+10859T>C
ClinVar dbSNP
12g.102866603A>TCA386299477PAHc.502T>A (p.Tyr168Asn)
c.487T>A (p.Tyr163Asn)
n.598T>A
n.530+10859T>A
ClinVar dbSNP
12g.102866604G>ACA481332087PAHc.501C>T (p.Asn167=)
c.486C>T (p.Asn162=)
n.597C>T
n.530+10858C>T
12g.102866604G>CCA242485390PAHc.501C>G (p.Asn167Lys)
c.486C>G (p.Asn162Lys)
n.597C>G
n.530+10858C>G
dbSNP gnomAD v3 gnomAD v4
12g.102866604G=CA2059456978PAHc.501C= (p.Asn167=)
c.486C= (p.Asn162=)
n.597C=
n.530+10858C=
12g.102866604G>TCA386299479PAHc.501C>A (p.Asn167Lys)
c.486C>A (p.Asn162Lys)
n.597C>A
n.530+10858C>A
12g.102866605T>ACA220584PAHc.500A>T (p.Asn167Ile)
c.485A>T (p.Asn162Ile)
n.596A>T
n.530+10857A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102866605T>CCA229585PAHc.500A>G (p.Asn167Ser)
c.485A>G (p.Asn162Ser)
n.596A>G
n.530+10857A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102866605T>GCA386299484PAHc.500A>C (p.Asn167Thr)
c.485A>C (p.Asn162Thr)
n.596A>C
n.530+10857A>C
dbSNP
12g.102866605T=CA2059456979PAHc.500A= (p.Asn167=)
c.485A= (p.Asn162=)
n.596A=
n.530+10857A=
12g.102866606T>ACA16020802PAHc.499A>T (p.Asn167Tyr)
c.484A>T (p.Asn162Tyr)
n.595A>T
n.530+10856A>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102866606T>CCA386299491PAHc.499A>G (p.Asn167Asp)
c.484A>G (p.Asn162Asp)
n.595A>G
n.530+10856A>G
12g.102866606T>GCA386299489PAHc.499A>C (p.Asn167His)
c.484A>C (p.Asn162His)
n.595A>C
n.530+10856A>C
12g.102866606T=CA2059456980PAHc.499A= (p.Asn167=)
c.484A= (p.Asn162=)
n.595A=
n.530+10856A=
12g.102866607G>ACA481332089PAHc.498C>T (p.Tyr166=)
c.483C>T (p.Tyr161=)
n.594C>T
n.530+10855C>T
12g.102866607G>CCA16020801PAHc.498C>G (p.Tyr166Ter)
c.483C>G (p.Tyr161Ter)
n.594C>G
n.530+10855C>G
ClinVar dbSNP
12g.102866607G=CA2059456981PAHc.498C= (p.Tyr166=)
c.483C= (p.Tyr161=)
n.594C=
n.530+10855C=
12g.102866607G>TCA229583PAHc.498C>A (p.Tyr166Ter)
c.483C>A (p.Tyr161Ter)
n.594C>A
n.530+10855C>A
ClinVar dbSNP
12g.102866608T>ACA386299494PAHc.497A>T (p.Tyr166Phe)
c.482A>T (p.Tyr161Phe)
n.593A>T
n.530+10854A>T
12g.102866608T>CCA6748915PAHc.497A>G (p.Tyr166Cys)
c.482A>G (p.Tyr161Cys)
n.593A>G
n.530+10854A>G
dbSNP ExAC gnomAD v2 gnomAD v4
12g.102866608T>GCA386299497PAHc.497A>C (p.Tyr166Ser)
c.482A>C (p.Tyr161Ser)
n.593A>C
n.530+10854A>C
12g.102866608T=CA2059456982PAHc.497A= (p.Tyr166=)
c.482A= (p.Tyr161=)
n.593A=
n.530+10854A=
12g.102866609A>CCA386299499PAHc.496T>G (p.Tyr166Asp)
c.481T>G (p.Tyr161Asp)
n.592T>G
n.530+10853T>G
12g.102866609A>GCA386299501PAHc.496T>C (p.Tyr166His)
c.481T>C (p.Tyr161His)
n.592T>C
n.530+10853T>C
12g.102866609A>TCA386299503PAHc.496T>A (p.Tyr166Asn)
c.481T>A (p.Tyr161Asn)
n.592T>A
n.530+10853T>A
12g.102866610_102866613delCA2580085681PAHc.493_496del (p.Ala165ThrfsTer29)
c.478_481del (p.Ala160ThrfsTer29)
n.589_592del
n.530+10850_530+10853del
ClinVar
12g.102866610G>ACA481332090PAHc.495C>T (p.Ala165=)
c.480C>T (p.Ala160=)
n.591C>T
n.530+10852C>T
ClinVar dbSNP gnomAD v4
12g.102866610G>CCA481332091PAHc.495C>G (p.Ala165=)
c.480C>G (p.Ala160=)
n.591C>G
n.530+10852C>G
12g.102866610G=CA2059456983PAHc.495C= (p.Ala165=)
c.480C= (p.Ala160=)
n.591C=
n.530+10852C=
12g.102866610G>TCA481332092PAHc.495C>A (p.Ala165=)
c.480C>A (p.Ala160=)
n.591C>A
n.530+10852C>A
12g.102866611G>ACA386299506PAHc.494C>T (p.Ala165Val)
c.479C>T (p.Ala160Val)
n.590C>T
n.530+10851C>T
gnomAD v4
12g.102866611G>CCA386299508PAHc.494C>G (p.Ala165Gly)
c.479C>G (p.Ala160Gly)
n.590C>G
n.530+10851C>G

Number of alleles fetched