Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102843648_102846953delCA251545PAHc.914_1199+1del
c.899_1184+1del
n.673_958+1del
n.576_861+1del
n.74-2519_303+1del
n.429_714+1del
c.913-2519_1142+1del
12g.102846895_102846951dupCA16021001PAHc.914_969+1dup
c.899_954+1dup
n.673_728+1dup
n.576_631+1dup
n.74-2519_74-2463dup
n.429_484+1dup
c.913-2519_913-2463dup (p.=)
12g.102846922_102846923delinsAGCA2059451350PAHc.941_942delinsCT (p.Pro314=)
c.926_927delinsCT (p.Pro309=)
n.700_701delinsCT
n.603_604delinsCT
n.74-2492_74-2491delinsCT
n.456_457delinsCT
c.913-2492_913-2491delinsCT (p.=)
12g.102846923G>ACA386291656PAHc.941C>T (p.Pro314Leu)
c.926C>T (p.Pro309Leu)
n.700C>T
n.603C>T
n.74-2492C>T
n.456C>T
c.913-2492C>T (p.=)
12g.102846923G>CCA386291652PAHc.941C>G (p.Pro314Arg)
c.926C>G (p.Pro309Arg)
n.700C>G
n.603C>G
n.74-2492C>G
n.456C>G
c.913-2492C>G (p.=)
12g.102846923G=CA2059451361PAHc.941C= (p.Pro314=)
c.926C= (p.Pro309=)
n.700C=
n.603C=
n.74-2492C=
n.456C=
c.913-2492C= (p.=)
12g.102846923G>TCA229867PAHc.941C>A (p.Pro314His)
c.926C>A (p.Pro309His)
n.700C>A
n.603C>A
n.74-2492C>A
n.456C>A
c.913-2492C>A (p.=)
ClinVar dbSNP
12g.102846924delCA229866PAHc.941del (p.Pro314LeufsTer27)
c.926del (p.Pro309LeufsTer27)
n.700del
n.603del
n.74-2492del
n.456del
c.913-2492del (p.=)
ClinVar dbSNP
12g.102846923_102846934delinsGGTGCACCCAGACA2059451363PAHc.930_941delinsTCTGGGTGCACC (p.Ser310=)
c.915_926delinsTCTGGGTGCACC (p.Ser305=)
n.689_700delinsTCTGGGTGCACC
n.592_603delinsTCTGGGTGCACC
n.74-2503_74-2492delinsTCTGGGTGCACC
n.445_456delinsTCTGGGTGCACC
c.913-2503_913-2492delinsTCTGGGTGCACC (p.=)
12g.102846924G>ACA229865PAHc.940C>T (p.Pro314Ser)
c.925C>T (p.Pro309Ser)
n.699C>T
n.602C>T
n.74-2493C>T
n.455C>T
c.913-2493C>T (p.=)
ClinVar dbSNP
12g.102846924G>CCA386291660PAHc.940C>G (p.Pro314Ala)
c.925C>G (p.Pro309Ala)
n.699C>G
n.602C>G
n.74-2493C>G
n.455C>G
c.913-2493C>G (p.=)
12g.102846924G=CA2059451371PAHc.940C= (p.Pro314=)
c.925C= (p.Pro309=)
n.699C=
n.602C=
n.74-2493C=
n.455C=
c.913-2493C= (p.=)
12g.102846924G>TCA229863PAHc.940C>A (p.Pro314Thr)
c.925C>A (p.Pro309Thr)
n.699C>A
n.602C>A
n.74-2493C>A
n.455C>A
c.913-2493C>A (p.=)
ClinVar dbSNP gnomAD
12g.102846925_102846935delCA229856PAHc.930_940del (p.Leu311Ter)
c.915_925del (p.Leu306Ter)
n.689_699del
n.592_602del
n.74-2503_74-2493del
n.445_455del
c.913-2503_913-2493del (p.=)
ClinVar dbSNP gnomAD
12g.102846925T>ACA481330834PAHc.939A>T (p.Ala313=)
c.924A>T (p.Ala308=)
n.698A>T
n.601A>T
n.74-2494A>T
n.454A>T
c.913-2494A>T (p.=)
12g.102846925T>CCA481330836PAHc.939A>G (p.Ala313=)
c.924A>G (p.Ala308=)
n.698A>G
n.601A>G
n.74-2494A>G
n.454A>G
c.913-2494A>G (p.=)
12g.102846925T>GCA481330839PAHc.939A>C (p.Ala313=)
c.924A>C (p.Ala308=)
n.698A>C
n.601A>C
n.74-2494A>C
n.454A>C
c.913-2494A>C (p.=)
gnomAD
12g.102846925T=CA2059451380PAHc.939A= (p.Ala313=)
c.924A= (p.Ala308=)
n.698A=
n.601A=
n.74-2494A=
n.454A=
c.913-2494A= (p.=)
12g.102846926G>ACA229861PAHc.938C>T (p.Ala313Val)
c.923C>T (p.Ala308Val)
n.697C>T
n.600C>T
n.74-2495C>T
n.453C>T
c.913-2495C>T (p.=)
ClinVar dbSNP
12g.102846926G>CCA386291669PAHc.938C>G (p.Ala313Gly)
c.923C>G (p.Ala308Gly)
n.697C>G
n.600C>G
n.74-2495C>G
n.453C>G
c.913-2495C>G (p.=)
12g.102846926G=CA2059451384PAHc.938C= (p.Ala313=)
c.923C= (p.Ala308=)
n.697C=
n.600C=
n.74-2495C=
n.453C=
c.913-2495C= (p.=)
12g.102846926G>TCA386291666PAHc.938C>A (p.Ala313Glu)
c.923C>A (p.Ala308Glu)
n.697C>A
n.600C>A
n.74-2495C>A
n.453C>A
c.913-2495C>A (p.=)
12g.102846927C>ACA6748788PAHc.937G>T (p.Ala313Ser)
c.922G>T (p.Ala308Ser)
n.696G>T
n.599G>T
n.74-2496G>T
n.452G>T
c.913-2496G>T (p.=)
dbSNP ExAC gnomAD
12g.102846927C=CA2059451388PAHc.937G= (p.Ala313=)
c.922G= (p.Ala308=)
n.696G=
n.599G=
n.74-2496G=
n.452G=
c.913-2496G= (p.=)
12g.102846927C>GCA386291673PAHc.937G>C (p.Ala313Pro)
c.922G>C (p.Ala308Pro)
n.696G>C
n.599G>C
n.74-2496G>C
n.452G>C
c.913-2496G>C (p.=)
12g.102846927C>TCA229859PAHc.937G>A (p.Ala313Thr)
c.922G>A (p.Ala308Thr)
n.696G>A
n.599G>A
n.74-2496G>A
n.452G>A
c.913-2496G>A (p.=)
ClinVar dbSNP gnomAD
12g.102846928A=CA2059451395PAHc.936T= (p.Gly312=)
c.921T= (p.Gly307=)
n.695T=
n.598T=
n.74-2497T=
n.451T=
c.913-2497T= (p.=)
12g.102846928A>CCA481330856PAHc.936T>G (p.Gly312=)
c.921T>G (p.Gly307=)
n.695T>G
n.598T>G
n.74-2497T>G
n.451T>G
c.913-2497T>G (p.=)
12g.102846928A>GCA6748789PAHc.936T>C (p.Gly312=)
c.921T>C (p.Gly307=)
n.695T>C
n.598T>C
n.74-2497T>C
n.451T>C
c.913-2497T>C (p.=)
ClinVar dbSNP ExAC gnomAD
12g.102846928A>TCA481330861PAHc.936T>A (p.Gly312=)
c.921T>A (p.Gly307=)
n.695T>A
n.598T>A
n.74-2497T>A
n.451T>A
c.913-2497T>A (p.=)
12g.102846929C>ACA16020902PAHc.935G>T (p.Gly312Val)
c.920G>T (p.Gly307Val)
n.694G>T
n.597G>T
n.74-2498G>T
n.450G>T
c.913-2498G>T (p.=)
gnomAD
12g.102846929C=CA2059451400PAHc.935G= (p.Gly312=)
c.920G= (p.Gly307=)
n.694G=
n.597G=
n.74-2498G=
n.450G=
c.913-2498G= (p.=)
12g.102846929C>GCA386291680PAHc.935G>C (p.Gly312Ala)
c.920G>C (p.Gly307Ala)
n.694G>C
n.597G>C
n.74-2498G>C
n.450G>C
c.913-2498G>C (p.=)
12g.102846929C>TCA229857PAHc.935G>A (p.Gly312Asp)
c.920G>A (p.Gly307Asp)
n.694G>A
n.597G>A
n.74-2498G>A
n.450G>A
c.913-2498G>A (p.=)
ClinVar dbSNP
12g.102846931delCA16020900PAHc.935del (p.Gly312ValfsTer29)
c.920del (p.Gly307ValfsTer29)
n.694del
n.597del
n.74-2498del
n.450del
c.913-2498del (p.=)
12g.102846930C>ACA386291684PAHc.934G>T (p.Gly312Cys)
c.919G>T (p.Gly307Cys)
n.693G>T
n.596G>T
n.74-2499G>T
n.449G>T
c.913-2499G>T (p.=)
ClinVar
12g.102846930C=CA2059451409PAHc.934G= (p.Gly312=)
c.919G= (p.Gly307=)
n.693G=
n.596G=
n.74-2499G=
n.449G=
c.913-2499G= (p.=)
12g.102846930C>GCA16020901PAHc.934G>C (p.Gly312Arg)
c.919G>C (p.Gly307Arg)
n.693G>C
n.596G>C
n.74-2499G>C
n.449G>C
c.913-2499G>C (p.=)
ClinVar
12g.102846930C>TCA6748790PAHc.934G>A (p.Gly312Ser)
c.919G>A (p.Gly307Ser)
n.693G>A
n.596G>A
n.74-2499G>A
n.449G>A
c.913-2499G>A (p.=)
dbSNP ExAC gnomAD
12g.102846931C>ACA6748791PAHc.933G>T (p.Leu311=)
c.918G>T (p.Leu306=)
n.692G>T
n.595G>T
n.74-2500G>T
n.448G>T
c.913-2500G>T (p.=)
dbSNP ExAC gnomAD
12g.102846931C=CA2059451420PAHc.933G= (p.Leu311=)
c.918G= (p.Leu306=)
n.692G=
n.595G=
n.74-2500G=
n.448G=
c.913-2500G= (p.=)
12g.102846931C>GCA481330884PAHc.933G>C (p.Leu311=)
c.918G>C (p.Leu306=)
n.692G>C
n.595G>C
n.74-2500G>C
n.448G>C
c.913-2500G>C (p.=)
12g.102846931C>TCA481330879PAHc.933G>A (p.Leu311=)
c.918G>A (p.Leu306=)
n.692G>A
n.595G>A
n.74-2500G>A
n.448G>A
c.913-2500G>A (p.=)
12g.102846931_102846933delinsCAGCA2059451418PAHc.931_933delinsCTG (p.Leu311=)
c.916_918delinsCTG (p.Leu306=)
n.690_692delinsCTG
n.593_595delinsCTG
n.74-2502_74-2500delinsCTG
n.446_448delinsCTG
c.913-2502_913-2500delinsCTG (p.=)
12g.102846932A=CA2059451424PAHc.932T= (p.Leu311=)
c.917T= (p.Leu306=)
n.691T=
n.594T=
n.74-2501T=
n.447T=
c.913-2501T= (p.=)
12g.102846932A>CCA386291691PAHc.932T>G (p.Leu311Arg)
c.917T>G (p.Leu306Arg)
n.691T>G
n.594T>G
n.74-2501T>G
n.447T>G
c.913-2501T>G (p.=)
12g.102846932A>GCA251524PAHc.932T>C (p.Leu311Pro)
c.917T>C (p.Leu306Pro)
n.691T>C
n.594T>C
n.74-2501T>C
n.447T>C
c.913-2501T>C (p.=)
ClinVar dbSNP ExAC gnomAD
12g.102846932A>TCA386291696PAHc.932T>A (p.Leu311Gln)
c.917T>A (p.Leu306Gln)
n.691T>A
n.594T>A
n.74-2501T>A
n.447T>A
c.913-2501T>A (p.=)
12g.102846932_102846937delCA16020899PAHc.927_932del (p.Ser310_Leu311del)
c.912_917del (p.Ser305_Leu306del)
n.686_691del
n.589_594del
n.74-2506_74-2501del
n.442_447del
c.913-2506_913-2501del (p.=)
12g.102846936_102846937delCA267689PAHc.931_932del (p.Leu311GlyfsTer4)
c.916_917del (p.Leu306GlyfsTer4)
n.690_691del
n.593_594del
n.74-2502_74-2501del
n.446_447del
c.913-2502_913-2501del (p.=)
dbSNP

Number of alleles fetched