Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102865713_102871066delCA916084429PAHc.442-4403_509+883del
c.427-4403_494+883del
n.538-4403_605+883del
n.530+6396_531-10381del
ClinVar
12g.102865820_102866770delCA16020806PAHc.442-102_509+781del
c.427-102_494+781del
n.538-102_605+781del
n.530+10697_531-10483del
12g.102866372_102868042delCA916084427PAHc.442-1377_509+226del
c.427-1377_494+226del
n.538-1377_605+226del
n.530+9422_531-11038del
ClinVar
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.102866641C>ACA386299629PAHc.464G>T (p.Arg155Leu)
c.449G>T (p.Arg150Leu)
n.560G>T
n.530+10821G>T
12g.102866641C=CA2059457002PAHc.464G= (p.Arg155=)
c.449G= (p.Arg150=)
n.560G=
n.530+10821G=
12g.102866641C>GCA229561PAHc.464G>C (p.Arg155Pro)
c.449G>C (p.Arg150Pro)
n.560G>C
n.530+10821G>C
ClinVar dbSNP gnomAD v4
12g.102866641C>TCA229559PAHc.464G>A (p.Arg155His)
c.449G>A (p.Arg150His)
n.560G>A
n.530+10821G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.102866641_102866642delinsCGCA2059457001PAHc.463_464delinsCG (p.Arg155=)
c.448_449delinsCG (p.Arg150=)
n.559_560delinsCG
n.530+10820_530+10821delinsCG
12g.102866642G>ACA6748917PAHc.463C>T (p.Arg155Cys)
c.448C>T (p.Arg150Cys)
n.559C>T
n.530+10820C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102866642G>CCA386299630PAHc.463C>G (p.Arg155Gly)
c.448C>G (p.Arg150Gly)
n.559C>G
n.530+10820C>G
12g.102866642G=CA2059457003PAHc.463C= (p.Arg155=)
c.448C= (p.Arg150=)
n.559C=
n.530+10820C=
12g.102866642G>TCA386299633PAHc.463C>A (p.Arg155Ser)
c.448C>A (p.Arg150Ser)
n.559C>A
n.530+10820C>A
12g.102866643delCA1139532470PAHc.463del (p.Arg155ValfsTer?)
c.448del (p.Arg150ValfsTer?)
n.559del
n.530+10820del
ClinVar dbSNP
12g.102866644_102866651dupCA16020796PAHc.456_463dup (p.Arg155LeufsTer?)
c.441_448dup (p.Arg150LeufsTer?)
n.552_559dup
n.530+10813_530+10820dup
ClinVar dbSNP
12g.102866643G>ACA481332113PAHc.462C>T (p.Tyr154=)
c.447C>T (p.Tyr149=)
n.558C>T
n.530+10819C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.102866643G>CCA386299635PAHc.462C>G (p.Tyr154Ter)
c.447C>G (p.Tyr149Ter)
n.558C>G
n.530+10819C>G
12g.102866643G=CA2059457004PAHc.462C= (p.Tyr154=)
c.447C= (p.Tyr149=)
n.558C=
n.530+10819C=
12g.102866643G>TCA386299637PAHc.462C>A (p.Tyr154Ter)
c.447C>A (p.Tyr149Ter)
n.558C>A
n.530+10819C>A
ClinVar dbSNP gnomAD v4
12g.102866644T>ACA16020795PAHc.461A>T (p.Tyr154Phe)
c.446A>T (p.Tyr149Phe)
n.557A>T
n.530+10818A>T
ClinVar dbSNP gnomAD v4
12g.102866644T>CCA16020794PAHc.461A>G (p.Tyr154Cys)
c.446A>G (p.Tyr149Cys)
n.557A>G
n.530+10818A>G
ClinVar dbSNP
12g.102866644T>GCA386299641PAHc.461A>C (p.Tyr154Ser)
c.446A>C (p.Tyr149Ser)
n.557A>C
n.530+10818A>C
12g.102866644T=CA2059457005PAHc.461A= (p.Tyr154=)
c.446A= (p.Tyr149=)
n.557A=
n.530+10818A=
12g.102866645A=CA2059457006PAHc.460T= (p.Tyr154=)
c.445T= (p.Tyr149=)
n.556T=
n.530+10817T=
12g.102866645A>CCA386299644PAHc.460T>G (p.Tyr154Asp)
c.445T>G (p.Tyr149Asp)
n.556T>G
n.530+10817T>G
12g.102866645A>GCA229557PAHc.460T>C (p.Tyr154His)
c.445T>C (p.Tyr149His)
n.556T>C
n.530+10817T>C
ClinVar dbSNP
12g.102866645A>TCA229556PAHc.460T>A (p.Tyr154Asn)
c.445T>A (p.Tyr149Asn)
n.556T>A
n.530+10817T>A
ClinVar dbSNP
12g.102866646C>ACA481332114PAHc.459G>T (p.Val153=)
c.444G>T (p.Val148=)
n.555G>T
n.530+10816G>T
12g.102866646C>GCA481332115PAHc.459G>C (p.Val153=)
c.444G>C (p.Val148=)
n.555G>C
n.530+10816G>C
12g.102866646C>TCA481332116PAHc.459G>A (p.Val153=)
c.444G>A (p.Val148=)
n.555G>A
n.530+10816G>A
12g.102866647A>CCA386299648PAHc.458T>G (p.Val153Gly)
c.443T>G (p.Val148Gly)
n.554T>G
n.530+10815T>G
12g.102866647A>GCA386299650PAHc.458T>C (p.Val153Ala)
c.443T>C (p.Val148Ala)
n.554T>C
n.530+10815T>C
ClinVar
12g.102866647A>TCA386299652PAHc.458T>A (p.Val153Glu)
c.443T>A (p.Val148Glu)
n.554T>A
n.530+10815T>A
12g.102866648C>ACA386299655PAHc.457G>T (p.Val153Leu)
c.442G>T (p.Val148Leu)
n.553G>T
n.530+10814G>T
12g.102866648C>GCA386299657PAHc.457G>C (p.Val153Leu)
c.442G>C (p.Val148Leu)
n.553G>C
n.530+10814G>C
12g.102866648C>TCA386299659PAHc.457G>A (p.Val153Met)
c.442G>A (p.Val148Met)
n.553G>A
n.530+10814G>A
gnomAD v4
12g.102866649A=CA2059457007PAHc.456T= (p.Pro152=)
c.441T= (p.Pro147=)
n.552T=
n.530+10813T=
12g.102866649A>CCA481332117PAHc.456T>G (p.Pro152=)
c.441T>G (p.Pro147=)
n.552T>G
n.530+10813T>G
12g.102866649A>GCA242485549PAHc.456T>C (p.Pro152=)
c.441T>C (p.Pro147=)
n.552T>C
n.530+10813T>C
ClinVar dbSNP gnomAD v4
12g.102866649A>TCA481332119PAHc.456T>A (p.Pro152=)
c.441T>A (p.Pro147=)
n.552T>A
n.530+10813T>A
12g.102866650G>ACA386299661PAHc.455C>T (p.Pro152Leu)
c.440C>T (p.Pro147Leu)
n.551C>T
n.530+10812C>T
12g.102866650G>CCA386299663PAHc.455C>G (p.Pro152Arg)
c.440C>G (p.Pro147Arg)
n.551C>G
n.530+10812C>G
12g.102866650G>TCA386299665PAHc.455C>A (p.Pro152His)
c.440C>A (p.Pro147His)
n.551C>A
n.530+10812C>A
12g.102866651G>ACA386299667PAHc.454C>T (p.Pro152Ser)
c.439C>T (p.Pro147Ser)
n.550C>T
n.530+10811C>T
gnomAD v4 COSMIC
12g.102866651G>CCA386299670PAHc.454C>G (p.Pro152Ala)
c.439C>G (p.Pro147Ala)
n.550C>G
n.530+10811C>G
12g.102866651G>TCA386299672PAHc.454C>A (p.Pro152Thr)
c.439C>A (p.Pro147Thr)
n.550C>A
n.530+10811C>A
12g.102866652delCA16020792PAHc.453del (p.Pro152LeufsTer?)
c.438del (p.Pro147LeufsTer?)
n.549del
n.530+10810del
12g.102866652A>CCA386299674PAHc.453T>G (p.Asp151Glu)
c.438T>G (p.Asp146Glu)
n.549T>G
n.530+10810T>G
12g.102866652A>GCA481332123PAHc.453T>C (p.Asp151=)
c.438T>C (p.Asp146=)
n.549T>C
n.530+10810T>C

Number of alleles fetched