Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.151568082C>ACA348804611NEBc.684G>T
c.17833G>T (p.Val5945Phe)
c.12730G>T (p.Val4244Phe)
c.2023G>T (p.Val675Phe)
c.17104G>T (p.Val5702Phe)
c.14917G>T (p.Val4973Phe)
c.15646G>T (p.Val5216Phe)
c.13459G>T (p.Val4487Phe)
2g.151568082C=CA1298181561NEBc.684G=
c.17833G= (p.Val5945=)
c.12730G= (p.Val4244=)
c.2023G= (p.Val675=)
c.17104G= (p.Val5702=)
c.14917G= (p.Val4973=)
c.15646G= (p.Val5216=)
c.13459G= (p.Val4487=)
2g.151568082C>GCA348804612NEBc.684G>C
c.17833G>C (p.Val5945Leu)
c.12730G>C (p.Val4244Leu)
c.2023G>C (p.Val675Leu)
c.17104G>C (p.Val5702Leu)
c.14917G>C (p.Val4973Leu)
c.15646G>C (p.Val5216Leu)
c.13459G>C (p.Val4487Leu)
2g.151568082C>TCA1908097NEBc.684G>A
c.17833G>A (p.Val5945Ile)
c.12730G>A (p.Val4244Ile)
c.2023G>A (p.Val675Ile)
c.17104G>A (p.Val5702Ile)
c.14917G>A (p.Val4973Ile)
c.15646G>A (p.Val5216Ile)
c.13459G>A (p.Val4487Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.151568083G>ACA1908098NEBc.683C>T
c.17832C>T (p.Asp5944=)
c.12729C>T (p.Asp4243=)
c.2022C>T (p.Asp674=)
c.17103C>T (p.Asp5701=)
c.14916C>T (p.Asp4972=)
c.15645C>T (p.Asp5215=)
c.13458C>T (p.Asp4486=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
2g.151568083G>CCA348804613NEBc.683C>G
c.17832C>G (p.Asp5944Glu)
c.12729C>G (p.Asp4243Glu)
c.2022C>G (p.Asp674Glu)
c.17103C>G (p.Asp5701Glu)
c.14916C>G (p.Asp4972Glu)
c.15645C>G (p.Asp5215Glu)
c.13458C>G (p.Asp4486Glu)
2g.151568083G=CA1298181562NEBc.683C=
c.17832C= (p.Asp5944=)
c.12729C= (p.Asp4243=)
c.2022C= (p.Asp674=)
c.17103C= (p.Asp5701=)
c.14916C= (p.Asp4972=)
c.15645C= (p.Asp5215=)
c.13458C= (p.Asp4486=)
2g.151568083G>TCA348804614NEBc.683C>A
c.17832C>A (p.Asp5944Glu)
c.12729C>A (p.Asp4243Glu)
c.2022C>A (p.Asp674Glu)
c.17103C>A (p.Asp5701Glu)
c.14916C>A (p.Asp4972Glu)
c.15645C>A (p.Asp5215Glu)
c.13458C>A (p.Asp4486Glu)
2g.151568084T>ACA348804615NEBc.682A>T
c.17831A>T (p.Asp5944Val)
c.12728A>T (p.Asp4243Val)
c.2021A>T (p.Asp674Val)
c.17102A>T (p.Asp5701Val)
c.14915A>T (p.Asp4972Val)
c.15644A>T (p.Asp5215Val)
c.13457A>T (p.Asp4486Val)
 gnomAD v4
2g.151568084T>CCA348804616NEBc.682A>G
c.17831A>G (p.Asp5944Gly)
c.12728A>G (p.Asp4243Gly)
c.2021A>G (p.Asp674Gly)
c.17102A>G (p.Asp5701Gly)
c.14915A>G (p.Asp4972Gly)
c.15644A>G (p.Asp5215Gly)
c.13457A>G (p.Asp4486Gly)
 dbSNP gnomAD v4
2g.151568084T>GCA348804617NEBc.682A>C
c.17831A>C (p.Asp5944Ala)
c.12728A>C (p.Asp4243Ala)
c.2021A>C (p.Asp674Ala)
c.17102A>C (p.Asp5701Ala)
c.14915A>C (p.Asp4972Ala)
c.15644A>C (p.Asp5215Ala)
c.13457A>C (p.Asp4486Ala)
2g.151568084T=CA1298181563NEBc.682A=
c.17831A= (p.Asp5944=)
c.12728A= (p.Asp4243=)
c.2021A= (p.Asp674=)
c.17102A= (p.Asp5701=)
c.14915A= (p.Asp4972=)
c.15644A= (p.Asp5215=)
c.13457A= (p.Asp4486=)
2g.151568085C>ACA348804620NEBc.681G>T
c.17830G>T (p.Asp5944Tyr)
c.12727G>T (p.Asp4243Tyr)
c.2020G>T (p.Asp674Tyr)
c.17101G>T (p.Asp5701Tyr)
c.14914G>T (p.Asp4972Tyr)
c.15643G>T (p.Asp5215Tyr)
c.13456G>T (p.Asp4486Tyr)
2g.151568085C>GCA348804619NEBc.681G>C
c.17830G>C (p.Asp5944His)
c.12727G>C (p.Asp4243His)
c.2020G>C (p.Asp674His)
c.17101G>C (p.Asp5701His)
c.14914G>C (p.Asp4972His)
c.15643G>C (p.Asp5215His)
c.13456G>C (p.Asp4486His)
2g.151568085C>TCA348804618NEBc.681G>A
c.17830G>A (p.Asp5944Asn)
c.12727G>A (p.Asp4243Asn)
c.2020G>A (p.Asp674Asn)
c.17101G>A (p.Asp5701Asn)
c.14914G>A (p.Asp4972Asn)
c.15643G>A (p.Asp5215Asn)
c.13456G>A (p.Asp4486Asn)
2g.151568086A>CCA348804621NEBc.680T>G
c.17829T>G (p.Asn5943Lys)
c.12726T>G (p.Asn4242Lys)
c.2019T>G (p.Asn673Lys)
c.17100T>G (p.Asn5700Lys)
c.14913T>G (p.Asn4971Lys)
c.15642T>G (p.Asn5214Lys)
c.13455T>G (p.Asn4485Lys)
2g.151568086A>GCA429240297NEBc.680T>C
c.17829T>C (p.Asn5943=)
c.12726T>C (p.Asn4242=)
c.2019T>C (p.Asn673=)
c.17100T>C (p.Asn5700=)
c.14913T>C (p.Asn4971=)
c.15642T>C (p.Asn5214=)
c.13455T>C (p.Asn4485=)
 gnomAD v4
2g.151568086A>TCA348804622NEBc.680T>A
c.17829T>A (p.Asn5943Lys)
c.12726T>A (p.Asn4242Lys)
c.2019T>A (p.Asn673Lys)
c.17100T>A (p.Asn5700Lys)
c.14913T>A (p.Asn4971Lys)
c.15642T>A (p.Asn5214Lys)
c.13455T>A (p.Asn4485Lys)
2g.151568086_151568087delinsATCA1298181564NEBc.679_680delinsAT
c.17828_17829delinsAT (p.Asn5943=)
c.12725_12726delinsAT (p.Asn4242=)
c.2018_2019delinsAT (p.Asn673=)
c.17099_17100delinsAT (p.Asn5700=)
c.14912_14913delinsAT (p.Asn4971=)
c.15641_15642delinsAT (p.Asn5214=)
c.13454_13455delinsAT (p.Asn4485=)
2g.151568087T>ACA348804623NEBc.679A>T
c.17828A>T (p.Asn5943Ile)
c.12725A>T (p.Asn4242Ile)
c.2018A>T (p.Asn673Ile)
c.17099A>T (p.Asn5700Ile)
c.14912A>T (p.Asn4971Ile)
c.15641A>T (p.Asn5214Ile)
c.13454A>T (p.Asn4485Ile)
2g.151568087T>CCA348804624NEBc.679A>G
c.17828A>G (p.Asn5943Ser)
c.12725A>G (p.Asn4242Ser)
c.2018A>G (p.Asn673Ser)
c.17099A>G (p.Asn5700Ser)
c.14912A>G (p.Asn4971Ser)
c.15641A>G (p.Asn5214Ser)
c.13454A>G (p.Asn4485Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.151568087T>GCA348804625NEBc.679A>C
c.17828A>C (p.Asn5943Thr)
c.12725A>C (p.Asn4242Thr)
c.2018A>C (p.Asn673Thr)
c.17099A>C (p.Asn5700Thr)
c.14912A>C (p.Asn4971Thr)
c.15641A>C (p.Asn5214Thr)
c.13454A>C (p.Asn4485Thr)
2g.151568087T=CA1298181565NEBc.679A=
c.17828A= (p.Asn5943=)
c.12725A= (p.Asn4242=)
c.2018A= (p.Asn673=)
c.17099A= (p.Asn5700=)
c.14912A= (p.Asn4971=)
c.15641A= (p.Asn5214=)
c.13454A= (p.Asn4485=)
2g.151568088delCA891842952NEBc.679del
c.17828del (p.Asn5943MetfsTer7)
c.12725del (p.Asn4242MetfsTer7)
c.2018del (p.Asn673MetfsTer7)
c.17099del (p.Asn5700MetfsTer7)
c.14912del (p.Asn4971MetfsTer7)
c.15641del (p.Asn5214MetfsTer7)
c.13454del (p.Asn4485MetfsTer7)
 ClinVar dbSNP gnomAD v4
2g.151568088T>ACA348804626NEBc.678A>T
c.17827A>T (p.Asn5943Tyr)
c.12724A>T (p.Asn4242Tyr)
c.2017A>T (p.Asn673Tyr)
c.17098A>T (p.Asn5700Tyr)
c.14911A>T (p.Asn4971Tyr)
c.15640A>T (p.Asn5214Tyr)
c.13453A>T (p.Asn4485Tyr)
2g.151568088T>CCA348804627NEBc.678A>G
c.17827A>G (p.Asn5943Asp)
c.12724A>G (p.Asn4242Asp)
c.2017A>G (p.Asn673Asp)
c.17098A>G (p.Asn5700Asp)
c.14911A>G (p.Asn4971Asp)
c.15640A>G (p.Asn5214Asp)
c.13453A>G (p.Asn4485Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.151568088T>GCA348804628NEBc.678A>C
c.17827A>C (p.Asn5943His)
c.12724A>C (p.Asn4242His)
c.2017A>C (p.Asn673His)
c.17098A>C (p.Asn5700His)
c.14911A>C (p.Asn4971His)
c.15640A>C (p.Asn5214His)
c.13453A>C (p.Asn4485His)
2g.151568088T=CA1298181566NEBc.678A=
c.17827A= (p.Asn5943=)
c.12724A= (p.Asn4242=)
c.2017A= (p.Asn673=)
c.17098A= (p.Asn5700=)
c.14911A= (p.Asn4971=)
c.15640A= (p.Asn5214=)
c.13453A= (p.Asn4485=)
2g.151568089G>ACA429240302NEBc.677C>T
c.17826C>T (p.Cys5942=)
c.12723C>T (p.Cys4241=)
c.2016C>T (p.Cys672=)
c.17097C>T (p.Cys5699=)
c.14910C>T (p.Cys4970=)
c.15639C>T (p.Cys5213=)
c.13452C>T (p.Cys4484=)
 gnomAD v4
2g.151568089G>CCA348804629NEBc.677C>G
c.17826C>G (p.Cys5942Trp)
c.12723C>G (p.Cys4241Trp)
c.2016C>G (p.Cys672Trp)
c.17097C>G (p.Cys5699Trp)
c.14910C>G (p.Cys4970Trp)
c.15639C>G (p.Cys5213Trp)
c.13452C>G (p.Cys4484Trp)
2g.151568089G>TCA348804630NEBc.677C>A
c.17826C>A (p.Cys5942Ter)
c.12723C>A (p.Cys4241Ter)
c.2016C>A (p.Cys672Ter)
c.17097C>A (p.Cys5699Ter)
c.14910C>A (p.Cys4970Ter)
c.15639C>A (p.Cys5213Ter)
c.13452C>A (p.Cys4484Ter)
2g.151568090C>ACA348804631NEBc.676G>T
c.17825G>T (p.Cys5942Phe)
c.12722G>T (p.Cys4241Phe)
c.2015G>T (p.Cys672Phe)
c.17096G>T (p.Cys5699Phe)
c.14909G>T (p.Cys4970Phe)
c.15638G>T (p.Cys5213Phe)
c.13451G>T (p.Cys4484Phe)
2g.151568090C>GCA348804632NEBc.676G>C
c.17825G>C (p.Cys5942Ser)
c.12722G>C (p.Cys4241Ser)
c.2015G>C (p.Cys672Ser)
c.17096G>C (p.Cys5699Ser)
c.14909G>C (p.Cys4970Ser)
c.15638G>C (p.Cys5213Ser)
c.13451G>C (p.Cys4484Ser)
2g.151568090C>TCA348804633NEBc.676G>A
c.17825G>A (p.Cys5942Tyr)
c.12722G>A (p.Cys4241Tyr)
c.2015G>A (p.Cys672Tyr)
c.17096G>A (p.Cys5699Tyr)
c.14909G>A (p.Cys4970Tyr)
c.15638G>A (p.Cys5213Tyr)
c.13451G>A (p.Cys4484Tyr)
2g.151568091A>CCA348804635NEBc.675T>G
c.17824T>G (p.Cys5942Gly)
c.12721T>G (p.Cys4241Gly)
c.2014T>G (p.Cys672Gly)
c.17095T>G (p.Cys5699Gly)
c.14908T>G (p.Cys4970Gly)
c.15637T>G (p.Cys5213Gly)
c.13450T>G (p.Cys4484Gly)
2g.151568091A>GCA348804636NEBc.675T>C
c.17824T>C (p.Cys5942Arg)
c.12721T>C (p.Cys4241Arg)
c.2014T>C (p.Cys672Arg)
c.17095T>C (p.Cys5699Arg)
c.14908T>C (p.Cys4970Arg)
c.15637T>C (p.Cys5213Arg)
c.13450T>C (p.Cys4484Arg)
2g.151568091A>TCA348804634NEBc.675T>A
c.17824T>A (p.Cys5942Ser)
c.12721T>A (p.Cys4241Ser)
c.2014T>A (p.Cys672Ser)
c.17095T>A (p.Cys5699Ser)
c.14908T>A (p.Cys4970Ser)
c.15637T>A (p.Cys5213Ser)
c.13450T>A (p.Cys4484Ser)
2g.151568092G>ACA429240304NEBc.674C>T
c.17823C>T (p.His5941=)
c.12720C>T (p.His4240=)
c.2013C>T (p.His671=)
c.17094C>T (p.His5698=)
c.14907C>T (p.His4969=)
c.15636C>T (p.His5212=)
c.13449C>T (p.His4483=)
 ClinVar dbSNP
2g.151568092G>CCA348804637NEBc.674C>G
c.17823C>G (p.His5941Gln)
c.12720C>G (p.His4240Gln)
c.2013C>G (p.His671Gln)
c.17094C>G (p.His5698Gln)
c.14907C>G (p.His4969Gln)
c.15636C>G (p.His5212Gln)
c.13449C>G (p.His4483Gln)
2g.151568092G=CA1298181567NEBc.674C=
c.17823C= (p.His5941=)
c.12720C= (p.His4240=)
c.2013C= (p.His671=)
c.17094C= (p.His5698=)
c.14907C= (p.His4969=)
c.15636C= (p.His5212=)
c.13449C= (p.His4483=)
2g.151568092G>TCA348804638NEBc.674C>A
c.17823C>A (p.His5941Gln)
c.12720C>A (p.His4240Gln)
c.2013C>A (p.His671Gln)
c.17094C>A (p.His5698Gln)
c.14907C>A (p.His4969Gln)
c.15636C>A (p.His5212Gln)
c.13449C>A (p.His4483Gln)
2g.151568093T>ACA348804639NEBc.673A>T
c.17822A>T (p.His5941Leu)
c.12719A>T (p.His4240Leu)
c.2012A>T (p.His671Leu)
c.17093A>T (p.His5698Leu)
c.14906A>T (p.His4969Leu)
c.15635A>T (p.His5212Leu)
c.13448A>T (p.His4483Leu)
2g.151568093T>CCA348804640NEBc.673A>G
c.17822A>G (p.His5941Arg)
c.12719A>G (p.His4240Arg)
c.2012A>G (p.His671Arg)
c.17093A>G (p.His5698Arg)
c.14906A>G (p.His4969Arg)
c.15635A>G (p.His5212Arg)
c.13448A>G (p.His4483Arg)
2g.151568093T>GCA348804641NEBc.673A>C
c.17822A>C (p.His5941Pro)
c.12719A>C (p.His4240Pro)
c.2012A>C (p.His671Pro)
c.17093A>C (p.His5698Pro)
c.14906A>C (p.His4969Pro)
c.15635A>C (p.His5212Pro)
c.13448A>C (p.His4483Pro)
2g.151568094G>ACA348804642NEBc.672C>T
c.17821C>T (p.His5941Tyr)
c.12718C>T (p.His4240Tyr)
c.2011C>T (p.His671Tyr)
c.17092C>T (p.His5698Tyr)
c.14905C>T (p.His4969Tyr)
c.15634C>T (p.His5212Tyr)
c.13447C>T (p.His4483Tyr)
 dbSNP gnomAD v3 gnomAD v4
2g.151568094G>CCA348804643NEBc.672C>G
c.17821C>G (p.His5941Asp)
c.12718C>G (p.His4240Asp)
c.2011C>G (p.His671Asp)
c.17092C>G (p.His5698Asp)
c.14905C>G (p.His4969Asp)
c.15634C>G (p.His5212Asp)
c.13447C>G (p.His4483Asp)
 gnomAD v4
2g.151568094G>TCA348804644NEBc.672C>A
c.17821C>A (p.His5941Asn)
c.12718C>A (p.His4240Asn)
c.2011C>A (p.His671Asn)
c.17092C>A (p.His5698Asn)
c.14905C>A (p.His4969Asn)
c.15634C>A (p.His5212Asn)
c.13447C>A (p.His4483Asn)
2g.151568095A=CA1298181568NEBc.671T=
c.17820T= (p.His5940=)
c.12717T= (p.His4239=)
c.2010T= (p.His670=)
c.17091T= (p.His5697=)
c.14904T= (p.His4968=)
c.15633T= (p.His5211=)
c.13446T= (p.His4482=)
2g.151568095A>CCA348804645NEBc.671T>G
c.17820T>G (p.His5940Gln)
c.12717T>G (p.His4239Gln)
c.2010T>G (p.His670Gln)
c.17091T>G (p.His5697Gln)
c.14904T>G (p.His4968Gln)
c.15633T>G (p.His5211Gln)
c.13446T>G (p.His4482Gln)
2g.151568095A>GCA429240309NEBc.671T>C
c.17820T>C (p.His5940=)
c.12717T>C (p.His4239=)
c.2010T>C (p.His670=)
c.17091T>C (p.His5697=)
c.14904T>C (p.His4968=)
c.15633T>C (p.His5211=)
c.13446T>C (p.His4482=)
 ClinVar dbSNP

Number of alleles fetched