Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.7663586A>CCA338122729CAMTA1c.1039A>C (p.Asn347His)
c.*890A>C (n.*890A>C)
c.949A>C (p.Asn317His)
c.967A>C (p.Asn323His)
c.*808A>C (n.*808A>C)
c.1027A>C (p.Asn343His)
1g.7663586A>GCA338122725CAMTA1c.1039A>G (p.Asn347Asp)
c.*890A>G (n.*890A>G)
c.949A>G (p.Asn317Asp)
c.967A>G (p.Asn323Asp)
c.*808A>G (n.*808A>G)
c.1027A>G (p.Asn343Asp)
gnomAD v4
1g.7663586A>TCA338122726CAMTA1c.1039A>T (p.Asn347Tyr)
c.*890A>T (n.*890A>T)
c.949A>T (p.Asn317Tyr)
c.967A>T (p.Asn323Tyr)
c.*808A>T (n.*808A>T)
c.1027A>T (p.Asn343Tyr)
1g.7663587A>CCA338122733CAMTA1c.1040A>C (p.Asn347Thr)
c.*891A>C (n.*891A>C)
c.950A>C (p.Asn317Thr)
c.968A>C (p.Asn323Thr)
c.*809A>C (n.*809A>C)
c.1028A>C (p.Asn343Thr)
1g.7663587A>GCA338122737CAMTA1c.1040A>G (p.Asn347Ser)
c.*891A>G (n.*891A>G)
c.950A>G (p.Asn317Ser)
c.968A>G (p.Asn323Ser)
c.*809A>G (n.*809A>G)
c.1028A>G (p.Asn343Ser)
1g.7663587A>TCA338122739CAMTA1c.1040A>T (p.Asn347Ile)
c.*891A>T (n.*891A>T)
c.950A>T (p.Asn317Ile)
c.968A>T (p.Asn323Ile)
c.*809A>T (n.*809A>T)
c.1028A>T (p.Asn343Ile)
1g.7663588C>ACA338122741CAMTA1c.1041C>A (p.Asn347Lys)
c.*892C>A (n.*892C>A)
c.951C>A (p.Asn317Lys)
c.969C>A (p.Asn323Lys)
c.*810C>A (n.*810C>A)
c.1029C>A (p.Asn343Lys)
1g.7663588C>GCA338122743CAMTA1c.1041C>G (p.Asn347Lys)
c.*892C>G (n.*892C>G)
c.951C>G (p.Asn317Lys)
c.969C>G (p.Asn323Lys)
c.*810C>G (n.*810C>G)
c.1029C>G (p.Asn343Lys)
1g.7663588C>TCA416026452CAMTA1c.1041C>T (p.Asn347=)
c.*892C>T (n.*892C>T)
c.951C>T (p.Asn317=)
c.969C>T (p.Asn323=)
c.*810C>T (n.*810C>T)
c.1029C>T (p.Asn343=)
1g.7663589C>ACA338122747CAMTA1c.1042C>A (p.Gln348Lys)
c.*893C>A (n.*893C>A)
c.952C>A (p.Gln318Lys)
c.970C>A (p.Gln324Lys)
c.*811C>A (n.*811C>A)
c.1030C>A (p.Gln344Lys)
1g.7663589C=CA1152023672CAMTA1c.1042C= (p.Gln348=)
c.*893C= (n.*893C=)
c.952C= (p.Gln318=)
c.970C= (p.Gln324=)
c.*811C= (n.*811C=)
c.1030C= (p.Gln344=)
1g.7663589C>GCA338122752CAMTA1c.1042C>G (p.Gln348Glu)
c.*893C>G (n.*893C>G)
c.952C>G (p.Gln318Glu)
c.970C>G (p.Gln324Glu)
c.*811C>G (n.*811C>G)
c.1030C>G (p.Gln344Glu)
1g.7663589C>TCA17244059CAMTA1c.1042C>T (p.Gln348Ter)
c.*893C>T (n.*893C>T)
c.952C>T (p.Gln318Ter)
c.970C>T (p.Gln324Ter)
c.*811C>T (n.*811C>T)
c.1030C>T (p.Gln344Ter)
dbSNP
1g.7663590A>CCA338122757CAMTA1c.1043A>C (p.Gln348Pro)
c.*894A>C (n.*894A>C)
c.953A>C (p.Gln318Pro)
c.971A>C (p.Gln324Pro)
c.*812A>C (n.*812A>C)
c.1031A>C (p.Gln344Pro)
1g.7663590A>GCA338122758CAMTA1c.1043A>G (p.Gln348Arg)
c.*894A>G (n.*894A>G)
c.953A>G (p.Gln318Arg)
c.971A>G (p.Gln324Arg)
c.*812A>G (n.*812A>G)
c.1031A>G (p.Gln344Arg)
1g.7663590A>TCA338122760CAMTA1c.1043A>T (p.Gln348Leu)
c.*894A>T (n.*894A>T)
c.953A>T (p.Gln318Leu)
c.971A>T (p.Gln324Leu)
c.*812A>T (n.*812A>T)
c.1031A>T (p.Gln344Leu)
1g.7663591G>ACA566358CAMTA1c.1044G>A (p.Gln348=)
c.*895G>A (n.*895G>A)
c.954G>A (p.Gln318=)
c.972G>A (p.Gln324=)
c.*813G>A (n.*813G>A)
c.1032G>A (p.Gln344=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663591G>CCA338122767CAMTA1c.1044G>C (p.Gln348His)
c.*895G>C (n.*895G>C)
c.954G>C (p.Gln318His)
c.972G>C (p.Gln324His)
c.*813G>C (n.*813G>C)
c.1032G>C (p.Gln344His)
1g.7663591G=CA1152023673CAMTA1c.1044G= (p.Gln348=)
c.*895G= (n.*895G=)
c.954G= (p.Gln318=)
c.972G= (p.Gln324=)
c.*813G= (n.*813G=)
c.1032G= (p.Gln344=)
1g.7663591G>TCA338122764CAMTA1c.1044G>T (p.Gln348His)
c.*895G>T (n.*895G>T)
c.954G>T (p.Gln318His)
c.972G>T (p.Gln324His)
c.*813G>T (n.*813G>T)
c.1032G>T (p.Gln344His)
gnomAD v4
1g.7663592G>ACA338122770CAMTA1c.1045G>A (p.Val349Met)
c.*896G>A (n.*896G>A)
c.955G>A (p.Val319Met)
c.973G>A (p.Val325Met)
c.*814G>A (n.*814G>A)
c.1033G>A (p.Val345Met)
1g.7663592G>CCA338122779CAMTA1c.1045G>C (p.Val349Leu)
c.*896G>C (n.*896G>C)
c.955G>C (p.Val319Leu)
c.973G>C (p.Val325Leu)
c.*814G>C (n.*814G>C)
c.1033G>C (p.Val345Leu)
1g.7663592G>TCA338122771CAMTA1c.1045G>T (p.Val349Leu)
c.*896G>T (n.*896G>T)
c.955G>T (p.Val319Leu)
c.973G>T (p.Val325Leu)
c.*814G>T (n.*814G>T)
c.1033G>T (p.Val345Leu)
1g.7663593T>ACA338122782CAMTA1c.1046T>A (p.Val349Glu)
c.*897T>A (n.*897T>A)
c.956T>A (p.Val319Glu)
c.974T>A (p.Val325Glu)
c.*815T>A (n.*815T>A)
c.1034T>A (p.Val345Glu)
1g.7663593T>CCA338122789CAMTA1c.1046T>C (p.Val349Ala)
c.*897T>C (n.*897T>C)
c.956T>C (p.Val319Ala)
c.974T>C (p.Val325Ala)
c.*815T>C (n.*815T>C)
c.1034T>C (p.Val345Ala)
1g.7663593T>GCA338122786CAMTA1c.1046T>G (p.Val349Gly)
c.*897T>G (n.*897T>G)
c.956T>G (p.Val319Gly)
c.974T>G (p.Val325Gly)
c.*815T>G (n.*815T>G)
c.1034T>G (p.Val345Gly)
1g.7663594G>ACA416026453CAMTA1c.1047G>A (p.Val349=)
c.*898G>A (n.*898G>A)
c.957G>A (p.Val319=)
c.975G>A (p.Val325=)
c.*816G>A (n.*816G>A)
c.1035G>A (p.Val345=)
dbSNP gnomAD v2 gnomAD v4
1g.7663594G>CCA416026454CAMTA1c.1047G>C (p.Val349=)
c.*898G>C (n.*898G>C)
c.957G>C (p.Val319=)
c.975G>C (p.Val325=)
c.*816G>C (n.*816G>C)
c.1035G>C (p.Val345=)
1g.7663594G=CA1152023674CAMTA1c.1047G= (p.Val349=)
c.*898G= (n.*898G=)
c.957G= (p.Val319=)
c.975G= (p.Val325=)
c.*816G= (n.*816G=)
c.1035G= (p.Val345=)
1g.7663594G>TCA416026455CAMTA1c.1047G>T (p.Val349=)
c.*898G>T (n.*898G>T)
c.957G>T (p.Val319=)
c.975G>T (p.Val325=)
c.*816G>T (n.*816G>T)
c.1035G>T (p.Val345=)
1g.7663595G>ACA338122790CAMTA1c.1048G>A (p.Glu350Lys)
c.*899G>A (n.*899G>A)
c.958G>A (p.Glu320Lys)
c.976G>A (p.Glu326Lys)
c.*817G>A (n.*817G>A)
c.1036G>A (p.Glu346Lys)
1g.7663595G>CCA338122791CAMTA1c.1048G>C (p.Glu350Gln)
c.*899G>C (n.*899G>C)
c.958G>C (p.Glu320Gln)
c.976G>C (p.Glu326Gln)
c.*817G>C (n.*817G>C)
c.1036G>C (p.Glu346Gln)
1g.7663595G>TCA338122792CAMTA1c.1048G>T (p.Glu350Ter)
c.*899G>T (n.*899G>T)
c.958G>T (p.Glu320Ter)
c.976G>T (p.Glu326Ter)
c.*817G>T (n.*817G>T)
c.1036G>T (p.Glu346Ter)
1g.7663596A>CCA338122793CAMTA1c.1049A>C (p.Glu350Ala)
c.*900A>C (n.*900A>C)
c.959A>C (p.Glu320Ala)
c.977A>C (p.Glu326Ala)
c.*818A>C (n.*818A>C)
c.1037A>C (p.Glu346Ala)
1g.7663596A>GCA338122794CAMTA1c.1049A>G (p.Glu350Gly)
c.*900A>G (n.*900A>G)
c.959A>G (p.Glu320Gly)
c.977A>G (p.Glu326Gly)
c.*818A>G (n.*818A>G)
c.1037A>G (p.Glu346Gly)
1g.7663596A>TCA338122795CAMTA1c.1049A>T (p.Glu350Val)
c.*900A>T (n.*900A>T)
c.959A>T (p.Glu320Val)
c.977A>T (p.Glu326Val)
c.*818A>T (n.*818A>T)
c.1037A>T (p.Glu346Val)
1g.7663597A>CCA338122796CAMTA1c.1050A>C (p.Glu350Asp)
c.*901A>C (n.*901A>C)
c.960A>C (p.Glu320Asp)
c.978A>C (p.Glu326Asp)
c.*819A>C (n.*819A>C)
c.1038A>C (p.Glu346Asp)
1g.7663597A>GCA416026456CAMTA1c.1050A>G (p.Glu350=)
c.*901A>G (n.*901A>G)
c.960A>G (p.Glu320=)
c.978A>G (p.Glu326=)
c.*819A>G (n.*819A>G)
c.1038A>G (p.Glu346=)
1g.7663597A>TCA338122798CAMTA1c.1050A>T (p.Glu350Asp)
c.*901A>T (n.*901A>T)
c.960A>T (p.Glu320Asp)
c.978A>T (p.Glu326Asp)
c.*819A>T (n.*819A>T)
c.1038A>T (p.Glu346Asp)
1g.7663598G>ACA338122799CAMTA1c.1051G>A (p.Val351Ile)
c.*902G>A (n.*902G>A)
c.961G>A (p.Val321Ile)
c.979G>A (p.Val327Ile)
c.*820G>A (n.*820G>A)
c.1039G>A (p.Val347Ile)
1g.7663598G>CCA338122802CAMTA1c.1051G>C (p.Val351Leu)
c.*902G>C (n.*902G>C)
c.961G>C (p.Val321Leu)
c.979G>C (p.Val327Leu)
c.*820G>C (n.*820G>C)
c.1039G>C (p.Val347Leu)
1g.7663598G>TCA338122805CAMTA1c.1051G>T (p.Val351Phe)
c.*902G>T (n.*902G>T)
c.961G>T (p.Val321Phe)
c.979G>T (p.Val327Phe)
c.*820G>T (n.*820G>T)
c.1039G>T (p.Val347Phe)
1g.7663599T>ACA338122816CAMTA1c.1052T>A (p.Val351Asp)
c.*903T>A (n.*903T>A)
c.962T>A (p.Val321Asp)
c.980T>A (p.Val327Asp)
c.*821T>A (n.*821T>A)
c.1040T>A (p.Val347Asp)
1g.7663599T>CCA338122814CAMTA1c.1052T>C (p.Val351Ala)
c.*903T>C (n.*903T>C)
c.962T>C (p.Val321Ala)
c.980T>C (p.Val327Ala)
c.*821T>C (n.*821T>C)
c.1040T>C (p.Val347Ala)
1g.7663599T>GCA338122813CAMTA1c.1052T>G (p.Val351Gly)
c.*903T>G (n.*903T>G)
c.962T>G (p.Val321Gly)
c.980T>G (p.Val327Gly)
c.*821T>G (n.*821T>G)
c.1040T>G (p.Val347Gly)
1g.7663600C>ACA416026457CAMTA1c.1053C>A (p.Val351=)
c.*904C>A (n.*904C>A)
c.963C>A (p.Val321=)
c.981C>A (p.Val327=)
c.*822C>A (n.*822C>A)
c.1041C>A (p.Val347=)
gnomAD v4
1g.7663600C>GCA416026459CAMTA1c.1053C>G (p.Val351=)
c.*904C>G (n.*904C>G)
c.963C>G (p.Val321=)
c.981C>G (p.Val327=)
c.*822C>G (n.*822C>G)
c.1041C>G (p.Val347=)
1g.7663600C>TCA416026460CAMTA1c.1053C>T (p.Val351=)
c.*904C>T (n.*904C>T)
c.963C>T (p.Val321=)
c.981C>T (p.Val327=)
c.*822C>T (n.*822C>T)
c.1041C>T (p.Val347=)
1g.7663601C>ACA338122819CAMTA1c.1054C>A (p.Pro352Thr)
c.*905C>A (n.*905C>A)
c.964C>A (p.Pro322Thr)
c.982C>A (p.Pro328Thr)
c.*823C>A (n.*823C>A)
c.1042C>A (p.Pro348Thr)
1g.7663601C>GCA338122821CAMTA1c.1054C>G (p.Pro352Ala)
c.*905C>G (n.*905C>G)
c.964C>G (p.Pro322Ala)
c.982C>G (p.Pro328Ala)
c.*823C>G (n.*823C>G)
c.1042C>G (p.Pro348Ala)
1g.7663601C>TCA338122822CAMTA1c.1054C>T (p.Pro352Ser)
c.*905C>T (n.*905C>T)
c.964C>T (p.Pro322Ser)
c.982C>T (p.Pro328Ser)
c.*823C>T (n.*823C>T)
c.1042C>T (p.Pro348Ser)
1g.7663602C>ACA338122824CAMTA1c.1055C>A (p.Pro352His)
c.*906C>A (n.*906C>A)
c.965C>A (p.Pro322His)
c.983C>A (p.Pro328His)
c.*824C>A (n.*824C>A)
c.1043C>A (p.Pro348His)
1g.7663602C>GCA338122828CAMTA1c.1055C>G (p.Pro352Arg)
c.*906C>G (n.*906C>G)
c.965C>G (p.Pro322Arg)
c.983C>G (p.Pro328Arg)
c.*824C>G (n.*824C>G)
c.1043C>G (p.Pro348Arg)
1g.7663602C>TCA338122832CAMTA1c.1055C>T (p.Pro352Leu)
c.*906C>T (n.*906C>T)
c.965C>T (p.Pro322Leu)
c.983C>T (p.Pro328Leu)
c.*824C>T (n.*824C>T)
c.1043C>T (p.Pro348Leu)
1g.7663603C>ACA416026463CAMTA1c.1056C>A (p.Pro352=)
c.*907C>A (n.*907C>A)
c.966C>A (p.Pro322=)
c.984C>A (p.Pro328=)
c.*825C>A (n.*825C>A)
c.1044C>A (p.Pro348=)
1g.7663603C=CA1147913068CAMTA1c.1056C= (p.Pro352=)
c.*907C= (n.*907C=)
c.966C= (p.Pro322=)
c.984C= (p.Pro328=)
c.*825C= (n.*825C=)
c.1044C= (p.Pro348=)
1g.7663603C>GCA566359CAMTA1c.1056C>G (p.Pro352=)
c.*907C>G (n.*907C>G)
c.966C>G (p.Pro322=)
c.984C>G (p.Pro328=)
c.*825C>G (n.*825C>G)
c.1044C>G (p.Pro348=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663603C>TCA566360CAMTA1c.1056C>T (p.Pro352=)
c.*907C>T (n.*907C>T)
c.966C>T (p.Pro322=)
c.984C>T (p.Pro328=)
c.*825C>T (n.*825C>T)
c.1044C>T (p.Pro348=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663604G>ACA338122834CAMTA1c.1057G>A (p.Asp353Asn)
c.*908G>A (n.*908G>A)
c.967G>A (p.Asp323Asn)
c.985G>A (p.Asp329Asn)
c.*826G>A (n.*826G>A)
c.1045G>A (p.Asp349Asn)
dbSNP gnomAD v4
1g.7663604G>CCA338122835CAMTA1c.1057G>C (p.Asp353His)
c.*908G>C (n.*908G>C)
c.967G>C (p.Asp323His)
c.985G>C (p.Asp329His)
c.*826G>C (n.*826G>C)
c.1045G>C (p.Asp349His)
1g.7663604G=CA1152023675CAMTA1c.1057G= (p.Asp353=)
c.*908G= (n.*908G=)
c.967G= (p.Asp323=)
c.985G= (p.Asp329=)
c.*826G= (n.*826G=)
c.1045G= (p.Asp349=)
1g.7663604G>TCA338122838CAMTA1c.1057G>T (p.Asp353Tyr)
c.*908G>T (n.*908G>T)
c.967G>T (p.Asp323Tyr)
c.985G>T (p.Asp329Tyr)
c.*826G>T (n.*826G>T)
c.1045G>T (p.Asp349Tyr)
1g.7663605A>CCA338122853CAMTA1c.1058A>C (p.Asp353Ala)
c.*909A>C (n.*909A>C)
c.968A>C (p.Asp323Ala)
c.986A>C (p.Asp329Ala)
c.*827A>C (n.*827A>C)
c.1046A>C (p.Asp349Ala)
1g.7663605A>GCA338122844CAMTA1c.1058A>G (p.Asp353Gly)
c.*909A>G (n.*909A>G)
c.968A>G (p.Asp323Gly)
c.986A>G (p.Asp329Gly)
c.*827A>G (n.*827A>G)
c.1046A>G (p.Asp349Gly)
1g.7663605A>TCA338122841CAMTA1c.1058A>T (p.Asp353Val)
c.*909A>T (n.*909A>T)
c.968A>T (p.Asp323Val)
c.986A>T (p.Asp329Val)
c.*827A>T (n.*827A>T)
c.1046A>T (p.Asp349Val)
1g.7663606C>ACA338122854CAMTA1c.1059C>A (p.Asp353Glu)
c.*910C>A (n.*910C>A)
c.969C>A (p.Asp323Glu)
c.987C>A (p.Asp329Glu)
c.*828C>A (n.*828C>A)
c.1047C>A (p.Asp349Glu)
1g.7663606C=CA1152023676CAMTA1c.1059C= (p.Asp353=)
c.*910C= (n.*910C=)
c.969C= (p.Asp323=)
c.987C= (p.Asp329=)
c.*828C= (n.*828C=)
c.1047C= (p.Asp349=)
1g.7663606C>GCA338122857CAMTA1c.1059C>G (p.Asp353Glu)
c.*910C>G (n.*910C>G)
c.969C>G (p.Asp323Glu)
c.987C>G (p.Asp329Glu)
c.*828C>G (n.*828C>G)
c.1047C>G (p.Asp349Glu)
1g.7663606C>TCA416026467CAMTA1c.1059C>T (p.Asp353=)
c.*910C>T (n.*910C>T)
c.969C>T (p.Asp323=)
c.987C>T (p.Asp329=)
c.*828C>T (n.*828C>T)
c.1047C>T (p.Asp349=)
dbSNP
1g.7663607A>CCA338122859CAMTA1c.1060A>C (p.Thr354Pro)
c.*911A>C (n.*911A>C)
c.970A>C (p.Thr324Pro)
c.988A>C (p.Thr330Pro)
c.*829A>C (n.*829A>C)
c.1048A>C (p.Thr350Pro)
1g.7663607A>GCA338122862CAMTA1c.1060A>G (p.Thr354Ala)
c.*911A>G (n.*911A>G)
c.970A>G (p.Thr324Ala)
c.988A>G (p.Thr330Ala)
c.*829A>G (n.*829A>G)
c.1048A>G (p.Thr350Ala)
gnomAD v4
1g.7663607A>TCA338122868CAMTA1c.1060A>T (p.Thr354Ser)
c.*911A>T (n.*911A>T)
c.970A>T (p.Thr324Ser)
c.988A>T (p.Thr330Ser)
c.*829A>T (n.*829A>T)
c.1048A>T (p.Thr350Ser)
1g.7663608C>ACA338122884CAMTA1c.1061C>A (p.Thr354Asn)
c.*912C>A (n.*912C>A)
c.971C>A (p.Thr324Asn)
c.989C>A (p.Thr330Asn)
c.*830C>A (n.*830C>A)
c.1049C>A (p.Thr350Asn)
1g.7663608C>GCA338122882CAMTA1c.1061C>G (p.Thr354Ser)
c.*912C>G (n.*912C>G)
c.971C>G (p.Thr324Ser)
c.989C>G (p.Thr330Ser)
c.*830C>G (n.*830C>G)
c.1049C>G (p.Thr350Ser)
1g.7663608C>TCA338122872CAMTA1c.1061C>T (p.Thr354Ile)
c.*912C>T (n.*912C>T)
c.971C>T (p.Thr324Ile)
c.989C>T (p.Thr330Ile)
c.*830C>T (n.*830C>T)
c.1049C>T (p.Thr350Ile)
1g.7663609C>ACA416026470CAMTA1c.1062C>A (p.Thr354=)
c.*913C>A (n.*913C>A)
c.972C>A (p.Thr324=)
c.990C>A (p.Thr330=)
c.*831C>A (n.*831C>A)
c.1050C>A (p.Thr350=)
1g.7663609C>GCA416026472CAMTA1c.1062C>G (p.Thr354=)
c.*913C>G (n.*913C>G)
c.972C>G (p.Thr324=)
c.990C>G (p.Thr330=)
c.*831C>G (n.*831C>G)
c.1050C>G (p.Thr350=)
1g.7663609C>TCA416026468CAMTA1c.1062C>T (p.Thr354=)
c.*913C>T (n.*913C>T)
c.972C>T (p.Thr324=)
c.990C>T (p.Thr330=)
c.*831C>T (n.*831C>T)
c.1050C>T (p.Thr350=)
1g.7663610A>CCA338122892CAMTA1c.1063A>C (p.Thr355Pro)
c.*914A>C (n.*914A>C)
c.973A>C (p.Thr325Pro)
c.991A>C (p.Thr331Pro)
c.*832A>C (n.*832A>C)
c.1051A>C (p.Thr351Pro)
1g.7663610A>GCA338122895CAMTA1c.1063A>G (p.Thr355Ala)
c.*914A>G (n.*914A>G)
c.973A>G (p.Thr325Ala)
c.991A>G (p.Thr331Ala)
c.*832A>G (n.*832A>G)
c.1051A>G (p.Thr351Ala)
1g.7663610A>TCA338122898CAMTA1c.1063A>T (p.Thr355Ser)
c.*914A>T (n.*914A>T)
c.973A>T (p.Thr325Ser)
c.991A>T (p.Thr331Ser)
c.*832A>T (n.*832A>T)
c.1051A>T (p.Thr351Ser)
1g.7663611C>ACA338122901CAMTA1c.1064C>A (p.Thr355Asn)
c.*915C>A (n.*915C>A)
c.974C>A (p.Thr325Asn)
c.992C>A (p.Thr331Asn)
c.*833C>A (n.*833C>A)
c.1052C>A (p.Thr351Asn)
1g.7663611C>GCA338122919CAMTA1c.1064C>G (p.Thr355Ser)
c.*915C>G (n.*915C>G)
c.974C>G (p.Thr325Ser)
c.992C>G (p.Thr331Ser)
c.*833C>G (n.*833C>G)
c.1052C>G (p.Thr351Ser)
1g.7663611C>TCA338122936CAMTA1c.1064C>T (p.Thr355Ile)
c.*915C>T (n.*915C>T)
c.974C>T (p.Thr325Ile)
c.992C>T (p.Thr331Ile)
c.*833C>T (n.*833C>T)
c.1052C>T (p.Thr351Ile)
1g.7663612C>ACA416026478CAMTA1c.1065C>A (p.Thr355=)
c.*916C>A (n.*916C>A)
c.975C>A (p.Thr325=)
c.993C>A (p.Thr331=)
c.*834C>A (n.*834C>A)
c.1053C>A (p.Thr351=)
1g.7663612C=CA1152023677CAMTA1c.1065C= (p.Thr355=)
c.*916C= (n.*916C=)
c.975C= (p.Thr325=)
c.993C= (p.Thr331=)
c.*834C= (n.*834C=)
c.1053C= (p.Thr351=)
1g.7663612C>GCA416026474CAMTA1c.1065C>G (p.Thr355=)
c.*916C>G (n.*916C>G)
c.975C>G (p.Thr325=)
c.993C>G (p.Thr331=)
c.*834C>G (n.*834C>G)
c.1053C>G (p.Thr351=)
1g.7663612C>TCA416026476CAMTA1c.1065C>T (p.Thr355=)
c.*916C>T (n.*916C>T)
c.975C>T (p.Thr325=)
c.993C>T (p.Thr331=)
c.*834C>T (n.*834C>T)
c.1053C>T (p.Thr351=)
dbSNP gnomAD v3 gnomAD v4
1g.7663613C>ACA338122943CAMTA1c.1066C>A (p.Gln356Lys)
c.*917C>A (n.*917C>A)
c.976C>A (p.Gln326Lys)
c.994C>A (p.Gln332Lys)
c.*835C>A (n.*835C>A)
c.1054C>A (p.Gln352Lys)
gnomAD v4
1g.7663613C>GCA338122951CAMTA1c.1066C>G (p.Gln356Glu)
c.*917C>G (n.*917C>G)
c.976C>G (p.Gln326Glu)
c.994C>G (p.Gln332Glu)
c.*835C>G (n.*835C>G)
c.1054C>G (p.Gln352Glu)
1g.7663613C>TCA338122948CAMTA1c.1066C>T (p.Gln356Ter)
c.*917C>T (n.*917C>T)
c.976C>T (p.Gln326Ter)
c.994C>T (p.Gln332Ter)
c.*835C>T (n.*835C>T)
c.1054C>T (p.Gln352Ter)
1g.7663614A>CCA338122955CAMTA1c.1067A>C (p.Gln356Pro)
c.*918A>C (n.*918A>C)
c.977A>C (p.Gln326Pro)
c.995A>C (p.Gln332Pro)
c.*836A>C (n.*836A>C)
c.1055A>C (p.Gln352Pro)
1g.7663614A>GCA338122974CAMTA1c.1067A>G (p.Gln356Arg)
c.*918A>G (n.*918A>G)
c.977A>G (p.Gln326Arg)
c.995A>G (p.Gln332Arg)
c.*836A>G (n.*836A>G)
c.1055A>G (p.Gln352Arg)
1g.7663614A>TCA338122977CAMTA1c.1067A>T (p.Gln356Leu)
c.*918A>T (n.*918A>T)
c.977A>T (p.Gln326Leu)
c.995A>T (p.Gln332Leu)
c.*836A>T (n.*836A>T)
c.1055A>T (p.Gln352Leu)
1g.7663615G>ACA416026480CAMTA1c.1068G>A (p.Gln356=)
c.*919G>A (n.*919G>A)
c.978G>A (p.Gln326=)
c.996G>A (p.Gln332=)
c.*837G>A (n.*837G>A)
c.1056G>A (p.Gln352=)
1g.7663615G>CCA17244069CAMTA1c.1068G>C (p.Gln356His)
c.*919G>C (n.*919G>C)
c.978G>C (p.Gln326His)
c.996G>C (p.Gln332His)
c.*837G>C (n.*837G>C)
c.1056G>C (p.Gln352His)
dbSNP
1g.7663615G=CA1152023678CAMTA1c.1068G= (p.Gln356=)
c.*919G= (n.*919G=)
c.978G= (p.Gln326=)
c.996G= (p.Gln332=)
c.*837G= (n.*837G=)
c.1056G= (p.Gln352=)
1g.7663615G>TCA338122980CAMTA1c.1068G>T (p.Gln356His)
c.*919G>T (n.*919G>T)
c.978G>T (p.Gln326His)
c.996G>T (p.Gln332His)
c.*837G>T (n.*837G>T)
c.1056G>T (p.Gln352His)
1g.7663616A>CCA338122982CAMTA1c.1069A>C (p.Ser357Arg)
c.*920A>C (n.*920A>C)
c.979A>C (p.Ser327Arg)
c.997A>C (p.Ser333Arg)
c.*838A>C (n.*838A>C)
c.1057A>C (p.Ser353Arg)
1g.7663616A>GCA338122986CAMTA1c.1069A>G (p.Ser357Gly)
c.*920A>G (n.*920A>G)
c.979A>G (p.Ser327Gly)
c.997A>G (p.Ser333Gly)
c.*838A>G (n.*838A>G)
c.1057A>G (p.Ser353Gly)
1g.7663616A>TCA338122989CAMTA1c.1069A>T (p.Ser357Cys)
c.*920A>T (n.*920A>T)
c.979A>T (p.Ser327Cys)
c.997A>T (p.Ser333Cys)
c.*838A>T (n.*838A>T)
c.1057A>T (p.Ser353Cys)
1g.7663617G>ACA17244074CAMTA1c.1070G>A (p.Ser357Asn)
c.*921G>A (n.*921G>A)
c.980G>A (p.Ser327Asn)
c.998G>A (p.Ser333Asn)
c.*839G>A (n.*839G>A)
c.1058G>A (p.Ser353Asn)
dbSNP gnomAD v4
1g.7663617G>CCA338124369CAMTA1c.1070G>C (p.Ser357Thr)
c.*921G>C (n.*921G>C)
c.980G>C (p.Ser327Thr)
c.998G>C (p.Ser333Thr)
c.*839G>C (n.*839G>C)
c.1058G>C (p.Ser353Thr)
1g.7663617G=CA1152023679CAMTA1c.1070G= (p.Ser357=)
c.*921G= (n.*921G=)
c.980G= (p.Ser327=)
c.998G= (p.Ser333=)
c.*839G= (n.*839G=)
c.1058G= (p.Ser353=)
1g.7663617G>TCA338124378CAMTA1c.1070G>T (p.Ser357Ile)
c.*921G>T (n.*921G>T)
c.980G>T (p.Ser327Ile)
c.998G>T (p.Ser333Ile)
c.*839G>T (n.*839G>T)
c.1058G>T (p.Ser353Ile)
1g.7663618C>ACA338124395CAMTA1c.1071C>A (p.Ser357Arg)
c.*922C>A (n.*922C>A)
c.981C>A (p.Ser327Arg)
c.999C>A (p.Ser333Arg)
c.*840C>A (n.*840C>A)
c.1059C>A (p.Ser353Arg)
gnomAD v4
1g.7663618C>GCA338124385CAMTA1c.1071C>G (p.Ser357Arg)
c.*922C>G (n.*922C>G)
c.981C>G (p.Ser327Arg)
c.999C>G (p.Ser333Arg)
c.*840C>G (n.*840C>G)
c.1059C>G (p.Ser353Arg)
1g.7663618C>TCA416026458CAMTA1c.1071C>T (p.Ser357=)
c.*922C>T (n.*922C>T)
c.981C>T (p.Ser327=)
c.999C>T (p.Ser333=)
c.*840C>T (n.*840C>T)
c.1059C>T (p.Ser353=)
1g.7663619T>ACA338124400CAMTA1c.1072T>A (p.Ser358Thr)
c.*923T>A (n.*923T>A)
c.982T>A (p.Ser328Thr)
c.1000T>A (p.Ser334Thr)
c.*841T>A (n.*841T>A)
c.1060T>A (p.Ser354Thr)
COSMIC
1g.7663619T>CCA338124405CAMTA1c.1072T>C (p.Ser358Pro)
c.*923T>C (n.*923T>C)
c.982T>C (p.Ser328Pro)
c.1000T>C (p.Ser334Pro)
c.*841T>C (n.*841T>C)
c.1060T>C (p.Ser354Pro)
1g.7663619T>GCA338124402CAMTA1c.1072T>G (p.Ser358Ala)
c.*923T>G (n.*923T>G)
c.982T>G (p.Ser328Ala)
c.1000T>G (p.Ser334Ala)
c.*841T>G (n.*841T>G)
c.1060T>G (p.Ser354Ala)
1g.7663620C>ACA338124430CAMTA1c.1073C>A (p.Ser358Tyr)
c.*924C>A (n.*924C>A)
c.983C>A (p.Ser328Tyr)
c.1001C>A (p.Ser334Tyr)
c.*842C>A (n.*842C>A)
c.1061C>A (p.Ser354Tyr)
1g.7663620C>GCA338124435CAMTA1c.1073C>G (p.Ser358Cys)
c.*924C>G (n.*924C>G)
c.983C>G (p.Ser328Cys)
c.1001C>G (p.Ser334Cys)
c.*842C>G (n.*842C>G)
c.1061C>G (p.Ser354Cys)
1g.7663620C>TCA338124438CAMTA1c.1073C>T (p.Ser358Phe)
c.*924C>T (n.*924C>T)
c.983C>T (p.Ser328Phe)
c.1001C>T (p.Ser334Phe)
c.*842C>T (n.*842C>T)
c.1061C>T (p.Ser354Phe)
1g.7663621C>ACA416026461CAMTA1c.1074C>A (p.Ser358=)
c.*925C>A (n.*925C>A)
c.984C>A (p.Ser328=)
c.1002C>A (p.Ser334=)
c.*843C>A (n.*843C>A)
c.1062C>A (p.Ser354=)
1g.7663621C>GCA416026462CAMTA1c.1074C>G (p.Ser358=)
c.*925C>G (n.*925C>G)
c.984C>G (p.Ser328=)
c.1002C>G (p.Ser334=)
c.*843C>G (n.*843C>G)
c.1062C>G (p.Ser354=)
1g.7663621C>TCA416026464CAMTA1c.1074C>T (p.Ser358=)
c.*925C>T (n.*925C>T)
c.984C>T (p.Ser328=)
c.1002C>T (p.Ser334=)
c.*843C>T (n.*843C>T)
c.1062C>T (p.Ser354=)
1g.7663622C>ACA338124441CAMTA1c.1075C>A (p.Pro359Thr)
c.*926C>A (n.*926C>A)
c.985C>A (p.Pro329Thr)
c.1003C>A (p.Pro335Thr)
c.*844C>A (n.*844C>A)
c.1063C>A (p.Pro355Thr)
1g.7663622C>GCA338124443CAMTA1c.1075C>G (p.Pro359Ala)
c.*926C>G (n.*926C>G)
c.985C>G (p.Pro329Ala)
c.1003C>G (p.Pro335Ala)
c.*844C>G (n.*844C>G)
c.1063C>G (p.Pro355Ala)
gnomAD v4
1g.7663622C>TCA338124446CAMTA1c.1075C>T (p.Pro359Ser)
c.*926C>T (n.*926C>T)
c.985C>T (p.Pro329Ser)
c.1003C>T (p.Pro335Ser)
c.*844C>T (n.*844C>T)
c.1063C>T (p.Pro355Ser)
COSMIC
1g.7663623C>ACA338124452CAMTA1c.1076C>A (p.Pro359His)
c.*927C>A (n.*927C>A)
c.986C>A (p.Pro329His)
c.1004C>A (p.Pro335His)
c.*845C>A (n.*845C>A)
c.1064C>A (p.Pro355His)
1g.7663623C>GCA338124455CAMTA1c.1076C>G (p.Pro359Arg)
c.*927C>G (n.*927C>G)
c.986C>G (p.Pro329Arg)
c.1004C>G (p.Pro335Arg)
c.*845C>G (n.*845C>G)
c.1064C>G (p.Pro355Arg)
1g.7663623C>TCA338124471CAMTA1c.1076C>T (p.Pro359Leu)
c.*927C>T (n.*927C>T)
c.986C>T (p.Pro329Leu)
c.1004C>T (p.Pro335Leu)
c.*845C>T (n.*845C>T)
c.1064C>T (p.Pro355Leu)
1g.7663624T>ACA416026465CAMTA1c.1077T>A (p.Pro359=)
c.*928T>A (n.*928T>A)
c.987T>A (p.Pro329=)
c.1005T>A (p.Pro335=)
c.*846T>A (n.*846T>A)
c.1065T>A (p.Pro355=)
1g.7663624T>CCA416026466CAMTA1c.1077T>C (p.Pro359=)
c.*928T>C (n.*928T>C)
c.987T>C (p.Pro329=)
c.1005T>C (p.Pro335=)
c.*846T>C (n.*846T>C)
c.1065T>C (p.Pro355=)
1g.7663624T>GCA566361CAMTA1c.1077T>G (p.Pro359=)
c.*928T>G (n.*928T>G)
c.987T>G (p.Pro329=)
c.1005T>G (p.Pro335=)
c.*846T>G (n.*846T>G)
c.1065T>G (p.Pro355=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663624T=CA1141640161CAMTA1c.1077T= (p.Pro359=)
c.*928T= (n.*928T=)
c.987T= (p.Pro329=)
c.1005T= (p.Pro335=)
c.*846T= (n.*846T=)
c.1065T= (p.Pro355=)
1g.7663625G>ACA338124490CAMTA1c.1078G>A (p.Val360Met)
c.*929G>A (n.*929G>A)
c.988G>A (p.Val330Met)
c.1006G>A (p.Val336Met)
c.*847G>A (n.*847G>A)
c.1066G>A (p.Val356Met)
gnomAD v4
1g.7663625G>CCA338124493CAMTA1c.1078G>C (p.Val360Leu)
c.*929G>C (n.*929G>C)
c.988G>C (p.Val330Leu)
c.1006G>C (p.Val336Leu)
c.*847G>C (n.*847G>C)
c.1066G>C (p.Val356Leu)
1g.7663625G>TCA338124496CAMTA1c.1078G>T (p.Val360Leu)
c.*929G>T (n.*929G>T)
c.988G>T (p.Val330Leu)
c.1006G>T (p.Val336Leu)
c.*847G>T (n.*847G>T)
c.1066G>T (p.Val356Leu)
1g.7663626T>ACA338124516CAMTA1c.1079T>A (p.Val360Glu)
c.*930T>A (n.*930T>A)
c.989T>A (p.Val330Glu)
c.1007T>A (p.Val336Glu)
c.*848T>A (n.*848T>A)
c.1067T>A (p.Val356Glu)
1g.7663626T>CCA338124509CAMTA1c.1079T>C (p.Val360Ala)
c.*930T>C (n.*930T>C)
c.989T>C (p.Val330Ala)
c.1007T>C (p.Val336Ala)
c.*848T>C (n.*848T>C)
c.1067T>C (p.Val356Ala)
1g.7663626T>GCA566362CAMTA1c.1079T>G (p.Val360Gly)
c.*930T>G (n.*930T>G)
c.989T>G (p.Val330Gly)
c.1007T>G (p.Val336Gly)
c.*848T>G (n.*848T>G)
c.1067T>G (p.Val356Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663626T=CA1141940844CAMTA1c.1079T= (p.Val360=)
c.*930T= (n.*930T=)
c.989T= (p.Val330=)
c.1007T= (p.Val336=)
c.*848T= (n.*848T=)
c.1067T= (p.Val356=)
1g.7663627G>ACA17244086CAMTA1c.1080G>A (p.Val360=)
c.*931G>A (n.*931G>A)
c.990G>A (p.Val330=)
c.1008G>A (p.Val336=)
c.*849G>A (n.*849G>A)
c.1068G>A (p.Val356=)
dbSNP gnomAD v3 gnomAD v4
1g.7663627G>CCA416026469CAMTA1c.1080G>C (p.Val360=)
c.*931G>C (n.*931G>C)
c.990G>C (p.Val330=)
c.1008G>C (p.Val336=)
c.*849G>C (n.*849G>C)
c.1068G>C (p.Val356=)
1g.7663627G=CA1152023680CAMTA1c.1080G= (p.Val360=)
c.*931G= (n.*931G=)
c.990G= (p.Val330=)
c.1008G= (p.Val336=)
c.*849G= (n.*849G=)
c.1068G= (p.Val356=)
1g.7663627G>TCA416026471CAMTA1c.1080G>T (p.Val360=)
c.*931G>T (n.*931G>T)
c.990G>T (p.Val330=)
c.1008G>T (p.Val336=)
c.*849G>T (n.*849G>T)
c.1068G>T (p.Val356=)
gnomAD v4
1g.7663628T>ACA338124517CAMTA1c.1081T>A (p.Ser361Thr)
c.*932T>A (n.*932T>A)
c.991T>A (p.Ser331Thr)
c.1009T>A (p.Ser337Thr)
c.*850T>A (n.*850T>A)
c.1069T>A (p.Ser357Thr)
1g.7663628T>CCA338124518CAMTA1c.1081T>C (p.Ser361Pro)
c.*932T>C (n.*932T>C)
c.991T>C (p.Ser331Pro)
c.1009T>C (p.Ser337Pro)
c.*850T>C (n.*850T>C)
c.1069T>C (p.Ser357Pro)
1g.7663628T>GCA338124520CAMTA1c.1081T>G (p.Ser361Ala)
c.*932T>G (n.*932T>G)
c.991T>G (p.Ser331Ala)
c.1009T>G (p.Ser337Ala)
c.*850T>G (n.*850T>G)
c.1069T>G (p.Ser357Ala)
1g.7663629C>ACA338124523CAMTA1c.1082C>A (p.Ser361Tyr)
c.*933C>A (n.*933C>A)
c.992C>A (p.Ser331Tyr)
c.1010C>A (p.Ser337Tyr)
c.*851C>A (n.*851C>A)
c.1070C>A (p.Ser357Tyr)
1g.7663629C>GCA338124530CAMTA1c.1082C>G (p.Ser361Cys)
c.*933C>G (n.*933C>G)
c.992C>G (p.Ser331Cys)
c.1010C>G (p.Ser337Cys)
c.*851C>G (n.*851C>G)
c.1070C>G (p.Ser357Cys)
1g.7663629C>TCA338124534CAMTA1c.1082C>T (p.Ser361Phe)
c.*933C>T (n.*933C>T)
c.992C>T (p.Ser331Phe)
c.1010C>T (p.Ser337Phe)
c.*851C>T (n.*851C>T)
c.1070C>T (p.Ser357Phe)
1g.7663630C>ACA416026473CAMTA1c.1083C>A (p.Ser361=)
c.*934C>A (n.*934C>A)
c.993C>A (p.Ser331=)
c.1011C>A (p.Ser337=)
c.*852C>A (n.*852C>A)
c.1071C>A (p.Ser357=)
1g.7663630C=CA1152023681CAMTA1c.1083C= (p.Ser361=)
c.*934C= (n.*934C=)
c.993C= (p.Ser331=)
c.1011C= (p.Ser337=)
c.*852C= (n.*852C=)
c.1071C= (p.Ser357=)
1g.7663630C>GCA416026477CAMTA1c.1083C>G (p.Ser361=)
c.*934C>G (n.*934C>G)
c.993C>G (p.Ser331=)
c.1011C>G (p.Ser337=)
c.*852C>G (n.*852C>G)
c.1071C>G (p.Ser357=)
1g.7663630C>TCA416026475CAMTA1c.1083C>T (p.Ser361=)
c.*934C>T (n.*934C>T)
c.993C>T (p.Ser331=)
c.1011C>T (p.Ser337=)
c.*852C>T (n.*852C>T)
c.1071C>T (p.Ser357=)
dbSNP gnomAD v3 gnomAD v4
1g.7663631A>CCA338124538CAMTA1c.1084A>C (p.Ile362Leu)
c.*935A>C (n.*935A>C)
c.994A>C (p.Ile332Leu)
c.1012A>C (p.Ile338Leu)
c.*853A>C (n.*853A>C)
c.1072A>C (p.Ile358Leu)
1g.7663631A>GCA338124547CAMTA1c.1084A>G (p.Ile362Val)
c.*935A>G (n.*935A>G)
c.994A>G (p.Ile332Val)
c.1012A>G (p.Ile338Val)
c.*853A>G (n.*853A>G)
c.1072A>G (p.Ile358Val)
1g.7663631A>TCA338124548CAMTA1c.1084A>T (p.Ile362Phe)
c.*935A>T (n.*935A>T)
c.994A>T (p.Ile332Phe)
c.1012A>T (p.Ile338Phe)
c.*853A>T (n.*853A>T)
c.1072A>T (p.Ile358Phe)
1g.7663632T>ACA566363CAMTA1c.1085T>A (p.Ile362Asn)
c.*936T>A (n.*936T>A)
c.995T>A (p.Ile332Asn)
c.1013T>A (p.Ile338Asn)
c.*854T>A (n.*854T>A)
c.1073T>A (p.Ile358Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663632T>CCA338124553CAMTA1c.1085T>C (p.Ile362Thr)
c.*936T>C (n.*936T>C)
c.995T>C (p.Ile332Thr)
c.1013T>C (p.Ile338Thr)
c.*854T>C (n.*854T>C)
c.1073T>C (p.Ile358Thr)
1g.7663632T>GCA338124554CAMTA1c.1085T>G (p.Ile362Ser)
c.*936T>G (n.*936T>G)
c.995T>G (p.Ile332Ser)
c.1013T>G (p.Ile338Ser)
c.*854T>G (n.*854T>G)
c.1073T>G (p.Ile358Ser)
1g.7663632T=CA1152023682CAMTA1c.1085T= (p.Ile362=)
c.*936T= (n.*936T=)
c.995T= (p.Ile332=)
c.1013T= (p.Ile338=)
c.*854T= (n.*854T=)
c.1073T= (p.Ile358=)
1g.7663633C>ACA416026479CAMTA1c.1086C>A (p.Ile362=)
c.*937C>A (n.*937C>A)
c.996C>A (p.Ile332=)
c.1014C>A (p.Ile338=)
c.*855C>A (n.*855C>A)
c.1074C>A (p.Ile358=)
1g.7663633C=CA1141838616CAMTA1c.1086C= (p.Ile362=)
c.*937C= (n.*937C=)
c.996C= (p.Ile332=)
c.1014C= (p.Ile338=)
c.*855C= (n.*855C=)
c.1074C= (p.Ile358=)
1g.7663633C>GCA338124555CAMTA1c.1086C>G (p.Ile362Met)
c.*937C>G (n.*937C>G)
c.996C>G (p.Ile332Met)
c.1014C>G (p.Ile338Met)
c.*855C>G (n.*855C>G)
c.1074C>G (p.Ile358Met)
1g.7663633C>TCA566364CAMTA1c.1086C>T (p.Ile362=)
c.*937C>T (n.*937C>T)
c.996C>T (p.Ile332=)
c.1014C>T (p.Ile338=)
c.*855C>T (n.*855C>T)
c.1074C>T (p.Ile358=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663634A>CCA338124560CAMTA1c.1087A>C (p.Ser363Arg)
c.*938A>C (n.*938A>C)
c.997A>C (p.Ser333Arg)
c.1015A>C (p.Ser339Arg)
c.*856A>C (n.*856A>C)
c.1075A>C (p.Ser359Arg)
1g.7663634A>GCA338124568CAMTA1c.1087A>G (p.Ser363Gly)
c.*938A>G (n.*938A>G)
c.997A>G (p.Ser333Gly)
c.1015A>G (p.Ser339Gly)
c.*856A>G (n.*856A>G)
c.1075A>G (p.Ser359Gly)
gnomAD v4
1g.7663634A>TCA338124566CAMTA1c.1087A>T (p.Ser363Cys)
c.*938A>T (n.*938A>T)
c.997A>T (p.Ser333Cys)
c.1015A>T (p.Ser339Cys)
c.*856A>T (n.*856A>T)
c.1075A>T (p.Ser359Cys)
1g.7663635G>ACA338124572CAMTA1c.1088G>A (p.Ser363Asn)
c.*939G>A (n.*939G>A)
c.998G>A (p.Ser333Asn)
c.1016G>A (p.Ser339Asn)
c.*857G>A (n.*857G>A)
c.1076G>A (p.Ser359Asn)
1g.7663635G>CCA338124592CAMTA1c.1088G>C (p.Ser363Thr)
c.*939G>C (n.*939G>C)
c.998G>C (p.Ser333Thr)
c.1016G>C (p.Ser339Thr)
c.*857G>C (n.*857G>C)
c.1076G>C (p.Ser359Thr)
1g.7663635G>TCA338124595CAMTA1c.1088G>T (p.Ser363Ile)
c.*939G>T (n.*939G>T)
c.998G>T (p.Ser333Ile)
c.1016G>T (p.Ser339Ile)
c.*857G>T (n.*857G>T)
c.1076G>T (p.Ser359Ile)
1g.7663636C>ACA338124599CAMTA1c.1089C>A (p.Ser363Arg)
c.*940C>A (n.*940C>A)
c.999C>A (p.Ser333Arg)
c.1017C>A (p.Ser339Arg)
c.*858C>A (n.*858C>A)
c.1077C>A (p.Ser359Arg)
1g.7663636C>GCA338124602CAMTA1c.1089C>G (p.Ser363Arg)
c.*940C>G (n.*940C>G)
c.999C>G (p.Ser333Arg)
c.1017C>G (p.Ser339Arg)
c.*858C>G (n.*858C>G)
c.1077C>G (p.Ser359Arg)
1g.7663636C>TCA416026481CAMTA1c.1089C>T (p.Ser363=)
c.*940C>T (n.*940C>T)
c.999C>T (p.Ser333=)
c.1017C>T (p.Ser339=)
c.*858C>T (n.*858C>T)
c.1077C>T (p.Ser359=)
1g.7663637A>CCA338124604CAMTA1c.1090A>C (p.Ser364Arg)
c.*941A>C (n.*941A>C)
c.1000A>C (p.Ser334Arg)
c.1018A>C (p.Ser340Arg)
c.*859A>C (n.*859A>C)
c.1078A>C (p.Ser360Arg)
1g.7663637A>GCA338124620CAMTA1c.1090A>G (p.Ser364Gly)
c.*941A>G (n.*941A>G)
c.1000A>G (p.Ser334Gly)
c.1018A>G (p.Ser340Gly)
c.*859A>G (n.*859A>G)
c.1078A>G (p.Ser360Gly)
1g.7663637A>TCA338124626CAMTA1c.1090A>T (p.Ser364Cys)
c.*941A>T (n.*941A>T)
c.1000A>T (p.Ser334Cys)
c.1018A>T (p.Ser340Cys)
c.*859A>T (n.*859A>T)
c.1078A>T (p.Ser360Cys)
dbSNP
1g.7663638G>ACA338124630CAMTA1c.1091G>A (p.Ser364Asn)
c.*942G>A (n.*942G>A)
c.1001G>A (p.Ser334Asn)
c.1019G>A (p.Ser340Asn)
c.*860G>A (n.*860G>A)
c.1079G>A (p.Ser360Asn)
1g.7663638G>CCA338124634CAMTA1c.1091G>C (p.Ser364Thr)
c.*942G>C (n.*942G>C)
c.1001G>C (p.Ser334Thr)
c.1019G>C (p.Ser340Thr)
c.*860G>C (n.*860G>C)
c.1079G>C (p.Ser360Thr)
1g.7663638G>TCA338124645CAMTA1c.1091G>T (p.Ser364Ile)
c.*942G>T (n.*942G>T)
c.1001G>T (p.Ser334Ile)
c.1019G>T (p.Ser340Ile)
c.*860G>T (n.*860G>T)
c.1079G>T (p.Ser360Ile)
1g.7663639C>ACA338124658CAMTA1c.1092C>A (p.Ser364Arg)
c.*943C>A (n.*943C>A)
c.1002C>A (p.Ser334Arg)
c.1020C>A (p.Ser340Arg)
c.*861C>A (n.*861C>A)
c.1080C>A (p.Ser360Arg)
1g.7663639C=CA1143756055CAMTA1c.1092C= (p.Ser364=)
c.*943C= (n.*943C=)
c.1002C= (p.Ser334=)
c.1020C= (p.Ser340=)
c.*861C= (n.*861C=)
c.1080C= (p.Ser360=)
1g.7663639C>GCA338124653CAMTA1c.1092C>G (p.Ser364Arg)
c.*943C>G (n.*943C>G)
c.1002C>G (p.Ser334Arg)
c.1020C>G (p.Ser340Arg)
c.*861C>G (n.*861C>G)
c.1080C>G (p.Ser360Arg)
1g.7663639C>TCA566365CAMTA1c.1092C>T (p.Ser364=)
c.*943C>T (n.*943C>T)
c.1002C>T (p.Ser334=)
c.1020C>T (p.Ser340=)
c.*861C>T (n.*861C>T)
c.1080C>T (p.Ser360=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663640G>ACA566366CAMTA1c.1093G>A (p.Gly365Arg)
c.*944G>A (n.*944G>A)
c.1003G>A (p.Gly335Arg)
c.1021G>A (p.Gly341Arg)
c.*862G>A (n.*862G>A)
c.1081G>A (p.Gly361Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663640G>CCA338124664CAMTA1c.1093G>C (p.Gly365Arg)
c.*944G>C (n.*944G>C)
c.1003G>C (p.Gly335Arg)
c.1021G>C (p.Gly341Arg)
c.*862G>C (n.*862G>C)
c.1081G>C (p.Gly361Arg)
1g.7663640G=CA1143537704CAMTA1c.1093G= (p.Gly365=)
c.*944G= (n.*944G=)
c.1003G= (p.Gly335=)
c.1021G= (p.Gly341=)
c.*862G= (n.*862G=)
c.1081G= (p.Gly361=)
1g.7663640G>TCA338124665CAMTA1c.1093G>T (p.Gly365Trp)
c.*944G>T (n.*944G>T)
c.1003G>T (p.Gly335Trp)
c.1021G>T (p.Gly341Trp)
c.*862G>T (n.*862G>T)
c.1081G>T (p.Gly361Trp)
1g.7663641G>ACA338124668CAMTA1c.1094G>A (p.Gly365Glu)
c.*945G>A (n.*945G>A)
c.1004G>A (p.Gly335Glu)
c.1022G>A (p.Gly341Glu)
c.*863G>A (n.*863G>A)
c.1082G>A (p.Gly361Glu)
1g.7663641G>CCA338124669CAMTA1c.1094G>C (p.Gly365Ala)
c.*945G>C (n.*945G>C)
c.1004G>C (p.Gly335Ala)
c.1022G>C (p.Gly341Ala)
c.*863G>C (n.*863G>C)
c.1082G>C (p.Gly361Ala)
gnomAD v4
1g.7663641G>TCA338124685CAMTA1c.1094G>T (p.Gly365Val)
c.*945G>T (n.*945G>T)
c.1004G>T (p.Gly335Val)
c.1022G>T (p.Gly341Val)
c.*863G>T (n.*863G>T)
c.1082G>T (p.Gly361Val)
1g.7663642G>ACA416026482CAMTA1c.1095G>A (p.Gly365=)
c.*946G>A (n.*946G>A)
c.1005G>A (p.Gly335=)
c.1023G>A (p.Gly341=)
c.*864G>A (n.*864G>A)
c.1083G>A (p.Gly361=)
dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.7663642G>CCA416026483CAMTA1c.1095G>C (p.Gly365=)
c.*946G>C (n.*946G>C)
c.1005G>C (p.Gly335=)
c.1023G>C (p.Gly341=)
c.*864G>C (n.*864G>C)
c.1083G>C (p.Gly361=)
1g.7663642G=CA1152023683CAMTA1c.1095G= (p.Gly365=)
c.*946G= (n.*946G=)
c.1005G= (p.Gly335=)
c.1023G= (p.Gly341=)
c.*864G= (n.*864G=)
c.1083G= (p.Gly361=)
1g.7663642G>TCA416026484CAMTA1c.1095G>T (p.Gly365=)
c.*946G>T (n.*946G>T)
c.1005G>T (p.Gly335=)
c.1023G>T (p.Gly341=)
c.*864G>T (n.*864G>T)
c.1083G>T (p.Gly361=)
gnomAD v4
1g.7663643C>ACA338124687CAMTA1c.1096C>A (p.Leu366Ile)
c.*947C>A (n.*947C>A)
c.1006C>A (p.Leu336Ile)
c.1024C>A (p.Leu342Ile)
c.*865C>A (n.*865C>A)
c.1084C>A (p.Leu362Ile)
1g.7663643C>GCA338124692CAMTA1c.1096C>G (p.Leu366Val)
c.*947C>G (n.*947C>G)
c.1006C>G (p.Leu336Val)
c.1024C>G (p.Leu342Val)
c.*865C>G (n.*865C>G)
c.1084C>G (p.Leu362Val)
1g.7663643C>TCA338124697CAMTA1c.1096C>T (p.Leu366Phe)
c.*947C>T (n.*947C>T)
c.1006C>T (p.Leu336Phe)
c.1024C>T (p.Leu342Phe)
c.*865C>T (n.*865C>T)
c.1084C>T (p.Leu362Phe)
1g.7663644T>ACA338124700CAMTA1c.1097T>A (p.Leu366His)
c.*948T>A (n.*948T>A)
c.1007T>A (p.Leu336His)
c.1025T>A (p.Leu342His)
c.*866T>A (n.*866T>A)
c.1085T>A (p.Leu362His)
1g.7663644T>CCA338124709CAMTA1c.1097T>C (p.Leu366Pro)
c.*948T>C (n.*948T>C)
c.1007T>C (p.Leu336Pro)
c.1025T>C (p.Leu342Pro)
c.*866T>C (n.*866T>C)
c.1085T>C (p.Leu362Pro)
1g.7663644T>GCA338124712CAMTA1c.1097T>G (p.Leu366Arg)
c.*948T>G (n.*948T>G)
c.1007T>G (p.Leu336Arg)
c.1025T>G (p.Leu342Arg)
c.*866T>G (n.*866T>G)
c.1085T>G (p.Leu362Arg)
1g.7663645C>ACA416026485CAMTA1c.1098C>A (p.Leu366=)
c.*949C>A (n.*949C>A)
c.1008C>A (p.Leu336=)
c.1026C>A (p.Leu342=)
c.*867C>A (n.*867C>A)
c.1086C>A (p.Leu362=)
dbSNP gnomAD v3 gnomAD v4
1g.7663645C=CA1152023684CAMTA1c.1098C= (p.Leu366=)
c.*949C= (n.*949C=)
c.1008C= (p.Leu336=)
c.1026C= (p.Leu342=)
c.*867C= (n.*867C=)
c.1086C= (p.Leu362=)
1g.7663645C>GCA416026486CAMTA1c.1098C>G (p.Leu366=)
c.*949C>G (n.*949C>G)
c.1008C>G (p.Leu336=)
c.1026C>G (p.Leu342=)
c.*867C>G (n.*867C>G)
c.1086C>G (p.Leu362=)
gnomAD v4
1g.7663645C>TCA416026487CAMTA1c.1098C>T (p.Leu366=)
c.*949C>T (n.*949C>T)
c.1008C>T (p.Leu336=)
c.1026C>T (p.Leu342=)
c.*867C>T (n.*867C>T)
c.1086C>T (p.Leu362=)
ClinVar
1g.7663646A>CCA338124716CAMTA1c.1099A>C (p.Asn367His)
c.*950A>C (n.*950A>C)
c.1009A>C (p.Asn337His)
c.1027A>C (p.Asn343His)
c.*868A>C (n.*868A>C)
c.1087A>C (p.Asn363His)
1g.7663646A>GCA338124723CAMTA1c.1099A>G (p.Asn367Asp)
c.*950A>G (n.*950A>G)
c.1009A>G (p.Asn337Asp)
c.1027A>G (p.Asn343Asp)
c.*868A>G (n.*868A>G)
c.1087A>G (p.Asn363Asp)
1g.7663646A>TCA338124719CAMTA1c.1099A>T (p.Asn367Tyr)
c.*950A>T (n.*950A>T)
c.1009A>T (p.Asn337Tyr)
c.1027A>T (p.Asn343Tyr)
c.*868A>T (n.*868A>T)
c.1087A>T (p.Asn363Tyr)
1g.7663647A=CA1152023685CAMTA1c.1100A= (p.Asn367=)
c.*951A= (n.*951A=)
c.1010A= (p.Asn337=)
c.1028A= (p.Asn343=)
c.*869A= (n.*869A=)
c.1088A= (p.Asn363=)
1g.7663647A>CCA338124729CAMTA1c.1100A>C (p.Asn367Thr)
c.*951A>C (n.*951A>C)
c.1010A>C (p.Asn337Thr)
c.1028A>C (p.Asn343Thr)
c.*869A>C (n.*869A>C)
c.1088A>C (p.Asn363Thr)
1g.7663647A>GCA338124733CAMTA1c.1100A>G (p.Asn367Ser)
c.*951A>G (n.*951A>G)
c.1010A>G (p.Asn337Ser)
c.1028A>G (p.Asn343Ser)
c.*869A>G (n.*869A>G)
c.1088A>G (p.Asn363Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663647A>TCA338124731CAMTA1c.1100A>T (p.Asn367Ile)
c.*951A>T (n.*951A>T)
c.1010A>T (p.Asn337Ile)
c.1028A>T (p.Asn343Ile)
c.*869A>T (n.*869A>T)
c.1088A>T (p.Asn363Ile)
1g.7663648C>ACA338124737CAMTA1c.1101C>A (p.Asn367Lys)
c.*952C>A (n.*952C>A)
c.1011C>A (p.Asn337Lys)
c.1029C>A (p.Asn343Lys)
c.*870C>A (n.*870C>A)
c.1089C>A (p.Asn363Lys)
1g.7663648C=CA1152023686CAMTA1c.1101C= (p.Asn367=)
c.*952C= (n.*952C=)
c.1011C= (p.Asn337=)
c.1029C= (p.Asn343=)
c.*870C= (n.*870C=)
c.1089C= (p.Asn363=)
1g.7663648C>GCA338124760CAMTA1c.1101C>G (p.Asn367Lys)
c.*952C>G (n.*952C>G)
c.1011C>G (p.Asn337Lys)
c.1029C>G (p.Asn343Lys)
c.*870C>G (n.*870C>G)
c.1089C>G (p.Asn363Lys)
gnomAD v4 COSMIC
1g.7663648C>TCA566367CAMTA1c.1101C>T (p.Asn367=)
c.*952C>T (n.*952C>T)
c.1011C>T (p.Asn337=)
c.1029C>T (p.Asn343=)
c.*870C>T (n.*870C>T)
c.1089C>T (p.Asn363=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663649A>CCA338124766CAMTA1c.1102A>C (p.Ser368Arg)
c.*953A>C (n.*953A>C)
c.1012A>C (p.Ser338Arg)
c.1030A>C (p.Ser344Arg)
c.*871A>C (n.*871A>C)
c.1090A>C (p.Ser364Arg)
1g.7663649A>GCA338124769CAMTA1c.1102A>G (p.Ser368Gly)
c.*953A>G (n.*953A>G)
c.1012A>G (p.Ser338Gly)
c.1030A>G (p.Ser344Gly)
c.*871A>G (n.*871A>G)
c.1090A>G (p.Ser364Gly)
gnomAD v4
1g.7663649A>TCA338124776CAMTA1c.1102A>T (p.Ser368Cys)
c.*953A>T (n.*953A>T)
c.1012A>T (p.Ser338Cys)
c.1030A>T (p.Ser344Cys)
c.*871A>T (n.*871A>T)
c.1090A>T (p.Ser364Cys)
1g.7663650G>ACA338124780CAMTA1c.1103G>A (p.Ser368Asn)
c.*954G>A (n.*954G>A)
c.1013G>A (p.Ser338Asn)
c.1031G>A (p.Ser344Asn)
c.*872G>A (n.*872G>A)
c.1091G>A (p.Ser364Asn)
1g.7663650G>CCA338124782CAMTA1c.1103G>C (p.Ser368Thr)
c.*954G>C (n.*954G>C)
c.1013G>C (p.Ser338Thr)
c.1031G>C (p.Ser344Thr)
c.*872G>C (n.*872G>C)
c.1091G>C (p.Ser364Thr)
1g.7663650G>TCA338124784CAMTA1c.1103G>T (p.Ser368Ile)
c.*954G>T (n.*954G>T)
c.1013G>T (p.Ser338Ile)
c.1031G>T (p.Ser344Ile)
c.*872G>T (n.*872G>T)
c.1091G>T (p.Ser364Ile)
1g.7663651C>ACA338124787CAMTA1c.1104C>A (p.Ser368Arg)
c.*955C>A (n.*955C>A)
c.1014C>A (p.Ser338Arg)
c.1032C>A (p.Ser344Arg)
c.*873C>A (n.*873C>A)
c.1092C>A (p.Ser364Arg)
1g.7663651C=CA1152023687CAMTA1c.1104C= (p.Ser368=)
c.*955C= (n.*955C=)
c.1014C= (p.Ser338=)
c.1032C= (p.Ser344=)
c.*873C= (n.*873C=)
c.1092C= (p.Ser364=)
1g.7663651C>GCA338124791CAMTA1c.1104C>G (p.Ser368Arg)
c.*955C>G (n.*955C>G)
c.1014C>G (p.Ser338Arg)
c.1032C>G (p.Ser344Arg)
c.*873C>G (n.*873C>G)
c.1092C>G (p.Ser364Arg)
1g.7663651C>TCA566368CAMTA1c.1104C>T (p.Ser368=)
c.*955C>T (n.*955C>T)
c.1014C>T (p.Ser338=)
c.1032C>T (p.Ser344=)
c.*873C>T (n.*873C>T)
c.1092C>T (p.Ser364=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.7663652G>ACA338124812CAMTA1c.1105G>A (p.Asp369Asn)
c.*956G>A (n.*956G>A)
c.1015G>A (p.Asp339Asn)
c.1033G>A (p.Asp345Asn)
c.*874G>A (n.*874G>A)
c.1093G>A (p.Asp365Asn)
ClinVar gnomAD v4
1g.7663652G>CCA338124820CAMTA1c.1105G>C (p.Asp369His)
c.*956G>C (n.*956G>C)
c.1015G>C (p.Asp339His)
c.1033G>C (p.Asp345His)
c.*874G>C (n.*874G>C)
c.1093G>C (p.Asp365His)
1g.7663652G>TCA338124824CAMTA1c.1105G>T (p.Asp369Tyr)
c.*956G>T (n.*956G>T)
c.1015G>T (p.Asp339Tyr)
c.1033G>T (p.Asp345Tyr)
c.*874G>T (n.*874G>T)
c.1093G>T (p.Asp365Tyr)
1g.7663653A>CCA338124831CAMTA1c.1106A>C (p.Asp369Ala)
c.*957A>C (n.*957A>C)
c.1016A>C (p.Asp339Ala)
c.1034A>C (p.Asp345Ala)
c.*875A>C (n.*875A>C)
c.1094A>C (p.Asp365Ala)
1g.7663653A>GCA338124838CAMTA1c.1106A>G (p.Asp369Gly)
c.*957A>G (n.*957A>G)
c.1016A>G (p.Asp339Gly)
c.1034A>G (p.Asp345Gly)
c.*875A>G (n.*875A>G)
c.1094A>G (p.Asp365Gly)
1g.7663653A>TCA338124835CAMTA1c.1106A>T (p.Asp369Val)
c.*957A>T (n.*957A>T)
c.1016A>T (p.Asp339Val)
c.1034A>T (p.Asp345Val)
c.*875A>T (n.*875A>T)
c.1094A>T (p.Asp365Val)
1g.7663654C>ACA338124849CAMTA1c.1107C>A (p.Asp369Glu)
c.*958C>A (n.*958C>A)
c.1017C>A (p.Asp339Glu)
c.1035C>A (p.Asp345Glu)
c.*876C>A (n.*876C>A)
c.1095C>A (p.Asp365Glu)
1g.7663654C>GCA338124851CAMTA1c.1107C>G (p.Asp369Glu)
c.*958C>G (n.*958C>G)
c.1017C>G (p.Asp339Glu)
c.1035C>G (p.Asp345Glu)
c.*876C>G (n.*876C>G)
c.1095C>G (p.Asp365Glu)
1g.7663654C>TCA416026488CAMTA1c.1107C>T (p.Asp369=)
c.*958C>T (n.*958C>T)
c.1017C>T (p.Asp339=)
c.1035C>T (p.Asp345=)
c.*876C>T (n.*876C>T)
c.1095C>T (p.Asp365=)
1g.7663655C>ACA338124852CAMTA1c.1108C>A (p.Pro370Thr)
c.*959C>A (n.*959C>A)
c.1018C>A (p.Pro340Thr)
c.1036C>A (p.Pro346Thr)
c.*877C>A (n.*877C>A)
c.1096C>A (p.Pro366Thr)
dbSNP gnomAD v2
1g.7663655C=CA1152023688CAMTA1c.1108C= (p.Pro370=)
c.*959C= (n.*959C=)
c.1018C= (p.Pro340=)
c.1036C= (p.Pro346=)
c.*877C= (n.*877C=)
c.1096C= (p.Pro366=)
1g.7663655C>GCA338124853CAMTA1c.1108C>G (p.Pro370Ala)
c.*959C>G (n.*959C>G)
c.1018C>G (p.Pro340Ala)
c.1036C>G (p.Pro346Ala)
c.*877C>G (n.*877C>G)
c.1096C>G (p.Pro366Ala)
1g.7663655C>TCA338124858CAMTA1c.1108C>T (p.Pro370Ser)
c.*959C>T (n.*959C>T)
c.1018C>T (p.Pro340Ser)
c.1036C>T (p.Pro346Ser)
c.*877C>T (n.*877C>T)
c.1096C>T (p.Pro366Ser)
dbSNP
1g.7663656C>ACA17244098CAMTA1c.1109C>A (p.Pro370Gln)
c.*960C>A (n.*960C>A)
c.1019C>A (p.Pro340Gln)
c.1037C>A (p.Pro346Gln)
c.*878C>A (n.*878C>A)
c.1097C>A (p.Pro366Gln)
dbSNP
1g.7663656C=CA1141651058CAMTA1c.1109C= (p.Pro370=)
c.*960C= (n.*960C=)
c.1019C= (p.Pro340=)
c.1037C= (p.Pro346=)
c.*878C= (n.*878C=)
c.1097C= (p.Pro366=)
1g.7663656C>GCA338124875CAMTA1c.1109C>G (p.Pro370Arg)
c.*960C>G (n.*960C>G)
c.1019C>G (p.Pro340Arg)
c.1037C>G (p.Pro346Arg)
c.*878C>G (n.*878C>G)
c.1097C>G (p.Pro366Arg)
1g.7663656C>TCA566369CAMTA1c.1109C>T (p.Pro370Leu)
c.*960C>T (n.*960C>T)
c.1019C>T (p.Pro340Leu)
c.1037C>T (p.Pro346Leu)
c.*878C>T (n.*878C>T)
c.1097C>T (p.Pro366Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663657G>ACA566370CAMTA1c.1110G>A (p.Pro370=)
c.*961G>A (n.*961G>A)
c.1020G>A (p.Pro340=)
c.1038G>A (p.Pro346=)
c.*879G>A (n.*879G>A)
c.1098G>A (p.Pro366=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663657G>CCA416026489CAMTA1c.1110G>C (p.Pro370=)
c.*961G>C (n.*961G>C)
c.1020G>C (p.Pro340=)
c.1038G>C (p.Pro346=)
c.*879G>C (n.*879G>C)
c.1098G>C (p.Pro366=)
1g.7663657G=CA1144075220CAMTA1c.1110G= (p.Pro370=)
c.*961G= (n.*961G=)
c.1020G= (p.Pro340=)
c.1038G= (p.Pro346=)
c.*879G= (n.*879G=)
c.1098G= (p.Pro366=)
1g.7663657G>TCA416026490CAMTA1c.1110G>T (p.Pro370=)
c.*961G>T (n.*961G>T)
c.1020G>T (p.Pro340=)
c.1038G>T (p.Pro346=)
c.*879G>T (n.*879G>T)
c.1098G>T (p.Pro366=)
dbSNP gnomAD v2
1g.7663658G>ACA338124940CAMTA1c.1111G>A (p.Asp371Asn)
c.*962G>A (n.*962G>A)
c.1021G>A (p.Asp341Asn)
c.1039G>A (p.Asp347Asn)
c.*880G>A (n.*880G>A)
c.1099G>A (p.Asp367Asn)
1g.7663658G>CCA338124911CAMTA1c.1111G>C (p.Asp371His)
c.*962G>C (n.*962G>C)
c.1021G>C (p.Asp341His)
c.1039G>C (p.Asp347His)
c.*880G>C (n.*880G>C)
c.1099G>C (p.Asp367His)
1g.7663658G>TCA338124906CAMTA1c.1111G>T (p.Asp371Tyr)
c.*962G>T (n.*962G>T)
c.1021G>T (p.Asp341Tyr)
c.1039G>T (p.Asp347Tyr)
c.*880G>T (n.*880G>T)
c.1099G>T (p.Asp367Tyr)
1g.7663659A>CCA338124945CAMTA1c.1112A>C (p.Asp371Ala)
c.*963A>C (n.*963A>C)
c.1022A>C (p.Asp341Ala)
c.1040A>C (p.Asp347Ala)
c.*881A>C (n.*881A>C)
c.1100A>C (p.Asp367Ala)
1g.7663659A>GCA338124955CAMTA1c.1112A>G (p.Asp371Gly)
c.*963A>G (n.*963A>G)
c.1022A>G (p.Asp341Gly)
c.1040A>G (p.Asp347Gly)
c.*881A>G (n.*881A>G)
c.1100A>G (p.Asp367Gly)
1g.7663659A>TCA338124960CAMTA1c.1112A>T (p.Asp371Val)
c.*963A>T (n.*963A>T)
c.1022A>T (p.Asp341Val)
c.1040A>T (p.Asp347Val)
c.*881A>T (n.*881A>T)
c.1100A>T (p.Asp367Val)
1g.7663660C>ACA338124981CAMTA1c.1113C>A (p.Asp371Glu)
c.*964C>A (n.*964C>A)
c.1023C>A (p.Asp341Glu)
c.1041C>A (p.Asp347Glu)
c.*882C>A (n.*882C>A)
c.1101C>A (p.Asp367Glu)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.7663660C=CA1144208524CAMTA1c.1113C= (p.Asp371=)
c.*964C= (n.*964C=)
c.1023C= (p.Asp341=)
c.1041C= (p.Asp347=)
c.*882C= (n.*882C=)
c.1101C= (p.Asp367=)
1g.7663660C>GCA338124992CAMTA1c.1113C>G (p.Asp371Glu)
c.*964C>G (n.*964C>G)
c.1023C>G (p.Asp341Glu)
c.1041C>G (p.Asp347Glu)
c.*882C>G (n.*882C>G)
c.1101C>G (p.Asp367Glu)
1g.7663660C>TCA566371CAMTA1c.1113C>T (p.Asp371=)
c.*964C>T (n.*964C>T)
c.1023C>T (p.Asp341=)
c.1041C>T (p.Asp347=)
c.*882C>T (n.*882C>T)
c.1101C>T (p.Asp367=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663661A>CCA338125008CAMTA1c.1114A>C (p.Met372Leu)
c.*965A>C (n.*965A>C)
c.1024A>C (p.Met342Leu)
c.1042A>C (p.Met348Leu)
c.*883A>C (n.*883A>C)
c.1102A>C (p.Met368Leu)
1g.7663661A>GCA338125020CAMTA1c.1114A>G (p.Met372Val)
c.*965A>G (n.*965A>G)
c.1024A>G (p.Met342Val)
c.1042A>G (p.Met348Val)
c.*883A>G (n.*883A>G)
c.1102A>G (p.Met368Val)
gnomAD v4
1g.7663661A>TCA338125021CAMTA1c.1114A>T (p.Met372Leu)
c.*965A>T (n.*965A>T)
c.1024A>T (p.Met342Leu)
c.1042A>T (p.Met348Leu)
c.*883A>T (n.*883A>T)
c.1102A>T (p.Met368Leu)
1g.7663662T>ACA338125025CAMTA1c.1115T>A (p.Met372Lys)
c.*966T>A (n.*966T>A)
c.1025T>A (p.Met342Lys)
c.1043T>A (p.Met348Lys)
c.*884T>A (n.*884T>A)
c.1103T>A (p.Met368Lys)
1g.7663662T>CCA338125027CAMTA1c.1115T>C (p.Met372Thr)
c.*966T>C (n.*966T>C)
c.1025T>C (p.Met342Thr)
c.1043T>C (p.Met348Thr)
c.*884T>C (n.*884T>C)
c.1103T>C (p.Met368Thr)
gnomAD v4
1g.7663662T>GCA338125030CAMTA1c.1115T>G (p.Met372Arg)
c.*966T>G (n.*966T>G)
c.1025T>G (p.Met342Arg)
c.1043T>G (p.Met348Arg)
c.*884T>G (n.*884T>G)
c.1103T>G (p.Met368Arg)
1g.7663665_7663667delCA2592296919CAMTA1c.1118_1120del (p.Val373del)
c.*969_*971del (n.*969_*971del)
c.1028_1030del (p.Val343del)
c.1046_1048del (p.Val349del)
c.*887_*889del (n.*887_*889del)
c.1106_1108del (p.Val369del)
gnomAD v3 gnomAD v4
1g.7663663G>ACA338125039CAMTA1c.1116G>A (p.Met372Ile)
c.*967G>A (n.*967G>A)
c.1026G>A (p.Met342Ile)
c.1044G>A (p.Met348Ile)
c.*885G>A (n.*885G>A)
c.1104G>A (p.Met368Ile)
1g.7663663G>CCA338125037CAMTA1c.1116G>C (p.Met372Ile)
c.*967G>C (n.*967G>C)
c.1026G>C (p.Met342Ile)
c.1044G>C (p.Met348Ile)
c.*885G>C (n.*885G>C)
c.1104G>C (p.Met368Ile)
1g.7663663G>TCA338125038CAMTA1c.1116G>T (p.Met372Ile)
c.*967G>T (n.*967G>T)
c.1026G>T (p.Met342Ile)
c.1044G>T (p.Met348Ile)
c.*885G>T (n.*885G>T)
c.1104G>T (p.Met368Ile)
1g.7663664G>ACA338125045CAMTA1c.1117G>A (p.Val373Met)
c.*968G>A (n.*968G>A)
c.1027G>A (p.Val343Met)
c.1045G>A (p.Val349Met)
c.*886G>A (n.*886G>A)
c.1105G>A (p.Val369Met)
gnomAD v4
1g.7663664G>CCA338125054CAMTA1c.1117G>C (p.Val373Leu)
c.*968G>C (n.*968G>C)
c.1027G>C (p.Val343Leu)
c.1045G>C (p.Val349Leu)
c.*886G>C (n.*886G>C)
c.1105G>C (p.Val369Leu)
1g.7663664G>TCA338125056CAMTA1c.1117G>T (p.Val373Leu)
c.*968G>T (n.*968G>T)
c.1027G>T (p.Val343Leu)
c.1045G>T (p.Val349Leu)
c.*886G>T (n.*886G>T)
c.1105G>T (p.Val369Leu)
1g.7663665T>ACA338125061CAMTA1c.1118T>A (p.Val373Glu)
c.*969T>A (n.*969T>A)
c.1028T>A (p.Val343Glu)
c.1046T>A (p.Val349Glu)
c.*887T>A (n.*887T>A)
c.1106T>A (p.Val369Glu)
1g.7663665T>CCA17244112CAMTA1c.1118T>C (p.Val373Ala)
c.*969T>C (n.*969T>C)
c.1028T>C (p.Val343Ala)
c.1046T>C (p.Val349Ala)
c.*887T>C (n.*887T>C)
c.1106T>C (p.Val369Ala)
dbSNP
1g.7663665T>GCA338125069CAMTA1c.1118T>G (p.Val373Gly)
c.*969T>G (n.*969T>G)
c.1028T>G (p.Val343Gly)
c.1046T>G (p.Val349Gly)
c.*887T>G (n.*887T>G)
c.1106T>G (p.Val369Gly)
dbSNP gnomAD v2 gnomAD v4
1g.7663665T=CA1152023689CAMTA1c.1118T= (p.Val373=)
c.*969T= (n.*969T=)
c.1028T= (p.Val343=)
c.1046T= (p.Val349=)
c.*887T= (n.*887T=)
c.1106T= (p.Val369=)
1g.7663666G>ACA416026494CAMTA1c.1119G>A (p.Val373=)
c.*970G>A (n.*970G>A)
c.1029G>A (p.Val343=)
c.1047G>A (p.Val349=)
c.*888G>A (n.*888G>A)
c.1107G>A (p.Val369=)
gnomAD v4
1g.7663666G>CCA416026495CAMTA1c.1119G>C (p.Val373=)
c.*970G>C (n.*970G>C)
c.1029G>C (p.Val343=)
c.1047G>C (p.Val349=)
c.*888G>C (n.*888G>C)
c.1107G>C (p.Val369=)
1g.7663666G>TCA416026497CAMTA1c.1119G>T (p.Val373=)
c.*970G>T (n.*970G>T)
c.1029G>T (p.Val343=)
c.1047G>T (p.Val349=)
c.*888G>T (n.*888G>T)
c.1107G>T (p.Val369=)
1g.7663666_7663667insTACACGGCCTCATTGGTGACCTCTCA2742356573CAMTA1c.1119_1120insTACACGGCCTCATTGGTGACCTCT (p.Val373_Asp374insTyrThrAlaSerLeuValThrSer)
c.*970_*971insTACACGGCCTCATTGGTGACCTCT (n.*970_*971insTACACGGCCTCATTGGTGACCTCT)
c.1029_1030insTACACGGCCTCATTGGTGACCTCT (p.Val343_Asp344insTyrThrAlaSerLeuValThrSer)
c.1047_1048insTACACGGCCTCATTGGTGACCTCT (p.Val349_Asp350insTyrThrAlaSerLeuValThrSer)
c.*888_*889insTACACGGCCTCATTGGTGACCTCT (n.*888_*889insTACACGGCCTCATTGGTGACCTCT)
c.1107_1108insTACACGGCCTCATTGGTGACCTCT (p.Val369_Asp370insTyrThrAlaSerLeuValThrSer)
1g.7663667G>ACA338125082CAMTA1c.1120G>A (p.Asp374Asn)
c.*971G>A (n.*971G>A)
c.1030G>A (p.Asp344Asn)
c.1048G>A (p.Asp350Asn)
c.*889G>A (n.*889G>A)
c.1108G>A (p.Asp370Asn)
1g.7663667G>CCA338125088CAMTA1c.1120G>C (p.Asp374His)
c.*971G>C (n.*971G>C)
c.1030G>C (p.Asp344His)
c.1048G>C (p.Asp350His)
c.*889G>C (n.*889G>C)
c.1108G>C (p.Asp370His)
1g.7663667G>TCA338125095CAMTA1c.1120G>T (p.Asp374Tyr)
c.*971G>T (n.*971G>T)
c.1030G>T (p.Asp344Tyr)
c.1048G>T (p.Asp350Tyr)
c.*889G>T (n.*889G>T)
c.1108G>T (p.Asp370Tyr)
1g.7663668A=CA1152023690CAMTA1c.1121A= (p.Asp374=)
c.*972A= (n.*972A=)
c.1031A= (p.Asp344=)
c.1049A= (p.Asp350=)
c.*890A= (n.*890A=)
c.1109A= (p.Asp370=)
1g.7663668A>CCA338125101CAMTA1c.1121A>C (p.Asp374Ala)
c.*972A>C (n.*972A>C)
c.1031A>C (p.Asp344Ala)
c.1049A>C (p.Asp350Ala)
c.*890A>C (n.*890A>C)
c.1109A>C (p.Asp370Ala)
1g.7663668A>GCA338125102CAMTA1c.1121A>G (p.Asp374Gly)
c.*972A>G (n.*972A>G)
c.1031A>G (p.Asp344Gly)
c.1049A>G (p.Asp350Gly)
c.*890A>G (n.*890A>G)
c.1109A>G (p.Asp370Gly)
1g.7663668A>TCA338125104CAMTA1c.1121A>T (p.Asp374Val)
c.*972A>T (n.*972A>T)
c.1031A>T (p.Asp344Val)
c.1049A>T (p.Asp350Val)
c.*890A>T (n.*890A>T)
c.1109A>T (p.Asp370Val)
dbSNP gnomAD v2 gnomAD v4
1g.7663669C>ACA338125109CAMTA1c.1122C>A (p.Asp374Glu)
c.*973C>A (n.*973C>A)
c.1032C>A (p.Asp344Glu)
c.1050C>A (p.Asp350Glu)
c.*891C>A (n.*891C>A)
c.1110C>A (p.Asp370Glu)
1g.7663669C>GCA338125105CAMTA1c.1122C>G (p.Asp374Glu)
c.*973C>G (n.*973C>G)
c.1032C>G (p.Asp344Glu)
c.1050C>G (p.Asp350Glu)
c.*891C>G (n.*891C>G)
c.1110C>G (p.Asp370Glu)
1g.7663669C>TCA416026500CAMTA1c.1122C>T (p.Asp374=)
c.*973C>T (n.*973C>T)
c.1032C>T (p.Asp344=)
c.1050C>T (p.Asp350=)
c.*891C>T (n.*891C>T)
c.1110C>T (p.Asp370=)
1g.7663670A>CCA338125119CAMTA1c.1123A>C (p.Ser375Arg)
c.*974A>C (n.*974A>C)
c.1033A>C (p.Ser345Arg)
c.1051A>C (p.Ser351Arg)
c.*892A>C (n.*892A>C)
c.1111A>C (p.Ser371Arg)
1g.7663670A>GCA338125125CAMTA1c.1123A>G (p.Ser375Gly)
c.*974A>G (n.*974A>G)
c.1033A>G (p.Ser345Gly)
c.1051A>G (p.Ser351Gly)
c.*892A>G (n.*892A>G)
c.1111A>G (p.Ser371Gly)
1g.7663670A>TCA338125126CAMTA1c.1123A>T (p.Ser375Cys)
c.*974A>T (n.*974A>T)
c.1033A>T (p.Ser345Cys)
c.1051A>T (p.Ser351Cys)
c.*892A>T (n.*892A>T)
c.1111A>T (p.Ser371Cys)
1g.7663671G>ACA338125127CAMTA1c.1124G>A (p.Ser375Asn)
c.*975G>A (n.*975G>A)
c.1034G>A (p.Ser345Asn)
c.1052G>A (p.Ser351Asn)
c.*893G>A (n.*893G>A)
c.1112G>A (p.Ser371Asn)
1g.7663671G>CCA338125128CAMTA1c.1124G>C (p.Ser375Thr)
c.*975G>C (n.*975G>C)
c.1034G>C (p.Ser345Thr)
c.1052G>C (p.Ser351Thr)
c.*893G>C (n.*893G>C)
c.1112G>C (p.Ser371Thr)
1g.7663671G>TCA338125132CAMTA1c.1124G>T (p.Ser375Ile)
c.*975G>T (n.*975G>T)
c.1034G>T (p.Ser345Ile)
c.1052G>T (p.Ser351Ile)
c.*893G>T (n.*893G>T)
c.1112G>T (p.Ser371Ile)
1g.7663672C>ACA338125136CAMTA1c.1125C>A (p.Ser375Arg)
c.*976C>A (n.*976C>A)
c.1035C>A (p.Ser345Arg)
c.1053C>A (p.Ser351Arg)
c.*894C>A (n.*894C>A)
c.1113C>A (p.Ser371Arg)
1g.7663672C=CA1152023691CAMTA1c.1125C= (p.Ser375=)
c.*976C= (n.*976C=)
c.1035C= (p.Ser345=)
c.1053C= (p.Ser351=)
c.*894C= (n.*894C=)
c.1113C= (p.Ser371=)
1g.7663672C>GCA338125154CAMTA1c.1125C>G (p.Ser375Arg)
c.*976C>G (n.*976C>G)
c.1035C>G (p.Ser345Arg)
c.1053C>G (p.Ser351Arg)
c.*894C>G (n.*894C>G)
c.1113C>G (p.Ser371Arg)
1g.7663672C>TCA416026504CAMTA1c.1125C>T (p.Ser375=)
c.*976C>T (n.*976C>T)
c.1035C>T (p.Ser345=)
c.1053C>T (p.Ser351=)
c.*894C>T (n.*894C>T)
c.1113C>T (p.Ser371=)
dbSNP gnomAD v4
1g.7663673C>ACA338125169CAMTA1c.1126C>A (p.Pro376Thr)
c.*977C>A (n.*977C>A)
c.1036C>A (p.Pro346Thr)
c.1054C>A (p.Pro352Thr)
c.*895C>A (n.*895C>A)
c.1114C>A (p.Pro372Thr)
1g.7663673C=CA1152023692CAMTA1c.1126C= (p.Pro376=)
c.*977C= (n.*977C=)
c.1036C= (p.Pro346=)
c.1054C= (p.Pro352=)
c.*895C= (n.*895C=)
c.1114C= (p.Pro372=)
1g.7663673C>GCA566372CAMTA1c.1126C>G (p.Pro376Ala)
c.*977C>G (n.*977C>G)
c.1036C>G (p.Pro346Ala)
c.1054C>G (p.Pro352Ala)
c.*895C>G (n.*895C>G)
c.1114C>G (p.Pro372Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.7663673C>TCA338125174CAMTA1c.1126C>T (p.Pro376Ser)
c.*977C>T (n.*977C>T)
c.1036C>T (p.Pro346Ser)
c.1054C>T (p.Pro352Ser)
c.*895C>T (n.*895C>T)
c.1114C>T (p.Pro372Ser)
1g.7663674C>ACA338125191CAMTA1c.1127C>A (p.Pro376Gln)
c.*978C>A (n.*978C>A)
c.1037C>A (p.Pro346Gln)
c.1055C>A (p.Pro352Gln)
c.*896C>A (n.*896C>A)
c.1115C>A (p.Pro372Gln)
1g.7663674C=CA1152023693CAMTA1c.1127C= (p.Pro376=)
c.*978C= (n.*978C=)
c.1037C= (p.Pro346=)
c.1055C= (p.Pro352=)
c.*896C= (n.*896C=)
c.1115C= (p.Pro372=)
1g.7663674C>GCA338125198CAMTA1c.1127C>G (p.Pro376Arg)
c.*978C>G (n.*978C>G)
c.1037C>G (p.Pro346Arg)
c.1055C>G (p.Pro352Arg)
c.*896C>G (n.*896C>G)
c.1115C>G (p.Pro372Arg)
1g.7663674C>TCA566373CAMTA1c.1127C>T (p.Pro376Leu)
c.*978C>T (n.*978C>T)
c.1037C>T (p.Pro346Leu)
c.1055C>T (p.Pro352Leu)
c.*896C>T (n.*896C>T)
c.1115C>T (p.Pro372Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663675G>ACA566374CAMTA1c.1128G>A (p.Pro376=)
c.*979G>A (n.*979G>A)
c.1038G>A (p.Pro346=)
c.1056G>A (p.Pro352=)
c.*897G>A (n.*897G>A)
c.1116G>A (p.Pro372=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663675G>CCA416026508CAMTA1c.1128G>C (p.Pro376=)
c.*979G>C (n.*979G>C)
c.1038G>C (p.Pro346=)
c.1056G>C (p.Pro352=)
c.*897G>C (n.*897G>C)
c.1116G>C (p.Pro372=)
1g.7663675G=CA1152023694CAMTA1c.1128G= (p.Pro376=)
c.*979G= (n.*979G=)
c.1038G= (p.Pro346=)
c.1056G= (p.Pro352=)
c.*897G= (n.*897G=)
c.1116G= (p.Pro372=)
1g.7663675G>TCA416026506CAMTA1c.1128G>T (p.Pro376=)
c.*979G>T (n.*979G>T)
c.1038G>T (p.Pro346=)
c.1056G>T (p.Pro352=)
c.*897G>T (n.*897G>T)
c.1116G>T (p.Pro372=)
1g.7663676G>ACA338125199CAMTA1c.1129G>A (p.Val377Met)
c.*980G>A (n.*980G>A)
c.1039G>A (p.Val347Met)
c.1057G>A (p.Val353Met)
c.*898G>A (n.*898G>A)
c.1117G>A (p.Val373Met)
1g.7663676G>CCA338125202CAMTA1c.1129G>C (p.Val377Leu)
c.*980G>C (n.*980G>C)
c.1039G>C (p.Val347Leu)
c.1057G>C (p.Val353Leu)
c.*898G>C (n.*898G>C)
c.1117G>C (p.Val373Leu)
1g.7663676G>TCA338125200CAMTA1c.1129G>T (p.Val377Leu)
c.*980G>T (n.*980G>T)
c.1039G>T (p.Val347Leu)
c.1057G>T (p.Val353Leu)
c.*898G>T (n.*898G>T)
c.1117G>T (p.Val373Leu)
1g.7663677T>ACA338125203CAMTA1c.1130T>A (p.Val377Glu)
c.*981T>A (n.*981T>A)
c.1040T>A (p.Val347Glu)
c.1058T>A (p.Val353Glu)
c.*899T>A (n.*899T>A)
c.1118T>A (p.Val373Glu)
1g.7663677T>CCA338125209CAMTA1c.1130T>C (p.Val377Ala)
c.*981T>C (n.*981T>C)
c.1040T>C (p.Val347Ala)
c.1058T>C (p.Val353Ala)
c.*899T>C (n.*899T>C)
c.1118T>C (p.Val373Ala)
COSMIC
1g.7663677T>GCA338125212CAMTA1c.1130T>G (p.Val377Gly)
c.*981T>G (n.*981T>G)
c.1040T>G (p.Val347Gly)
c.1058T>G (p.Val353Gly)
c.*899T>G (n.*899T>G)
c.1118T>G (p.Val373Gly)
1g.7663677T=CA1152023695CAMTA1c.1130T= (p.Val377=)
c.*981T= (n.*981T=)
c.1040T= (p.Val347=)
c.1058T= (p.Val353=)
c.*899T= (n.*899T=)
c.1118T= (p.Val373=)
1g.7663678G>ACA416026513CAMTA1c.1131G>A (p.Val377=)
c.*982G>A (n.*982G>A)
c.1041G>A (p.Val347=)
c.1059G>A (p.Val353=)
c.*900G>A (n.*900G>A)
c.1119G>A (p.Val373=)
1g.7663678G>CCA416026514CAMTA1c.1131G>C (p.Val377=)
c.*982G>C (n.*982G>C)
c.1041G>C (p.Val347=)
c.1059G>C (p.Val353=)
c.*900G>C (n.*900G>C)
c.1119G>C (p.Val373=)
1g.7663678G>TCA416026515CAMTA1c.1131G>T (p.Val377=)
c.*982G>T (n.*982G>T)
c.1041G>T (p.Val347=)
c.1059G>T (p.Val353=)
c.*900G>T (n.*900G>T)
c.1119G>T (p.Val373=)
1g.7663679dupCA16617189CAMTA1c.1132dup (p.Val378GlyfsTer30)
c.*983dup (n.*983dup)
c.1042dup (p.Val348GlyfsTer30)
c.1060dup (p.Val354GlyfsTer30)
c.*901dup (n.*901dup)
c.1120dup (p.Val374GlyfsTer30)
ClinVar dbSNP
1g.7663679G>ACA338125216CAMTA1c.1132G>A (p.Val378Ile)
c.*983G>A (n.*983G>A)
c.1042G>A (p.Val348Ile)
c.1060G>A (p.Val354Ile)
c.*901G>A (n.*901G>A)
c.1120G>A (p.Val374Ile)
dbSNP gnomAD v3 gnomAD v4
1g.7663679G>CCA338125221CAMTA1c.1132G>C (p.Val378Leu)
c.*983G>C (n.*983G>C)
c.1042G>C (p.Val348Leu)
c.1060G>C (p.Val354Leu)
c.*901G>C (n.*901G>C)
c.1120G>C (p.Val374Leu)
1g.7663679G=CA1152023696CAMTA1c.1132G= (p.Val378=)
c.*983G= (n.*983G=)
c.1042G= (p.Val348=)
c.1060G= (p.Val354=)
c.*901G= (n.*901G=)
c.1120G= (p.Val374=)
1g.7663679G>TCA338125222CAMTA1c.1132G>T (p.Val378Phe)
c.*983G>T (n.*983G>T)
c.1042G>T (p.Val348Phe)
c.1060G>T (p.Val354Phe)
c.*901G>T (n.*901G>T)
c.1120G>T (p.Val374Phe)
1g.7663680T>ACA338125229CAMTA1c.1133T>A (p.Val378Asp)
c.*984T>A (n.*984T>A)
c.1043T>A (p.Val348Asp)
c.1061T>A (p.Val354Asp)
c.*902T>A (n.*902T>A)
c.1121T>A (p.Val374Asp)
1g.7663680T>CCA338125236CAMTA1c.1133T>C (p.Val378Ala)
c.*984T>C (n.*984T>C)
c.1043T>C (p.Val348Ala)
c.1061T>C (p.Val354Ala)
c.*902T>C (n.*902T>C)
c.1121T>C (p.Val374Ala)
dbSNP
1g.7663680T>GCA338125240CAMTA1c.1133T>G (p.Val378Gly)
c.*984T>G (n.*984T>G)
c.1043T>G (p.Val348Gly)
c.1061T>G (p.Val354Gly)
c.*902T>G (n.*902T>G)
c.1121T>G (p.Val374Gly)
1g.7663680T=CA1152023697CAMTA1c.1133T= (p.Val378=)
c.*984T= (n.*984T=)
c.1043T= (p.Val348=)
c.1061T= (p.Val354=)
c.*902T= (n.*902T=)
c.1121T= (p.Val374=)
1g.7663681C>ACA416026517CAMTA1c.1134C>A (p.Val378=)
c.*985C>A (n.*985C>A)
c.1044C>A (p.Val348=)
c.1062C>A (p.Val354=)
c.*903C>A (n.*903C>A)
c.1122C>A (p.Val374=)
1g.7663681C=CA1152023698CAMTA1c.1134C= (p.Val378=)
c.*985C= (n.*985C=)
c.1044C= (p.Val348=)
c.1062C= (p.Val354=)
c.*903C= (n.*903C=)
c.1122C= (p.Val374=)
1g.7663681C>GCA416026518CAMTA1c.1134C>G (p.Val378=)
c.*985C>G (n.*985C>G)
c.1044C>G (p.Val348=)
c.1062C>G (p.Val354=)
c.*903C>G (n.*903C>G)
c.1122C>G (p.Val374=)
dbSNP
1g.7663681C>TCA416026519CAMTA1c.1134C>T (p.Val378=)
c.*985C>T (n.*985C>T)
c.1044C>T (p.Val348=)
c.1062C>T (p.Val354=)
c.*903C>T (n.*903C>T)
c.1122C>T (p.Val374=)
1g.7663682A>CCA338125246CAMTA1c.1135A>C (p.Thr379Pro)
c.*986A>C (n.*986A>C)
c.1045A>C (p.Thr349Pro)
c.1063A>C (p.Thr355Pro)
c.*904A>C (n.*904A>C)
c.1123A>C (p.Thr375Pro)
1g.7663682A>GCA338125247CAMTA1c.1135A>G (p.Thr379Ala)
c.*986A>G (n.*986A>G)
c.1045A>G (p.Thr349Ala)
c.1063A>G (p.Thr355Ala)
c.*904A>G (n.*904A>G)
c.1123A>G (p.Thr375Ala)
1g.7663682A>TCA338125252CAMTA1c.1135A>T (p.Thr379Ser)
c.*986A>T (n.*986A>T)
c.1045A>T (p.Thr349Ser)
c.1063A>T (p.Thr355Ser)
c.*904A>T (n.*904A>T)
c.1123A>T (p.Thr375Ser)
1g.7663683C>ACA338125254CAMTA1c.1136C>A (p.Thr379Lys)
c.*987C>A (n.*987C>A)
c.1046C>A (p.Thr349Lys)
c.1064C>A (p.Thr355Lys)
c.*905C>A (n.*905C>A)
c.1124C>A (p.Thr375Lys)
1g.7663683C>GCA338125260CAMTA1c.1136C>G (p.Thr379Arg)
c.*987C>G (n.*987C>G)
c.1046C>G (p.Thr349Arg)
c.1064C>G (p.Thr355Arg)
c.*905C>G (n.*905C>G)
c.1124C>G (p.Thr375Arg)
1g.7663683C>TCA338125256CAMTA1c.1136C>T (p.Thr379Ile)
c.*987C>T (n.*987C>T)
c.1046C>T (p.Thr349Ile)
c.1064C>T (p.Thr355Ile)
c.*905C>T (n.*905C>T)
c.1124C>T (p.Thr375Ile)
1g.7663684A=CA1152023699CAMTA1c.1137A= (p.Thr379=)
c.*988A= (n.*988A=)
c.1047A= (p.Thr349=)
c.1065A= (p.Thr355=)
c.*906A= (n.*906A=)
c.1125A= (p.Thr375=)
1g.7663684A>CCA416026524CAMTA1c.1137A>C (p.Thr379=)
c.*988A>C (n.*988A>C)
c.1047A>C (p.Thr349=)
c.1065A>C (p.Thr355=)
c.*906A>C (n.*906A>C)
c.1125A>C (p.Thr375=)
1g.7663684A>GCA17244136CAMTA1c.1137A>G (p.Thr379=)
c.*988A>G (n.*988A>G)
c.1047A>G (p.Thr349=)
c.1065A>G (p.Thr355=)
c.*906A>G (n.*906A>G)
c.1125A>G (p.Thr375=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.7663684A>TCA416026523CAMTA1c.1137A>T (p.Thr379=)
c.*988A>T (n.*988A>T)
c.1047A>T (p.Thr349=)
c.1065A>T (p.Thr355=)
c.*906A>T (n.*906A>T)
c.1125A>T (p.Thr375=)
1g.7663685G>ACA338125271CAMTA1c.1138G>A (p.Gly380Ser)
c.*989G>A (n.*989G>A)
c.1048G>A (p.Gly350Ser)
c.1066G>A (p.Gly356Ser)
c.*907G>A (n.*907G>A)
c.1126G>A (p.Gly376Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.7663685G>CCA338125283CAMTA1c.1138G>C (p.Gly380Arg)
c.*989G>C (n.*989G>C)
c.1048G>C (p.Gly350Arg)
c.1066G>C (p.Gly356Arg)
c.*907G>C (n.*907G>C)
c.1126G>C (p.Gly376Arg)
1g.7663685G=CA1152023700CAMTA1c.1138G= (p.Gly380=)
c.*989G= (n.*989G=)
c.1048G= (p.Gly350=)
c.1066G= (p.Gly356=)
c.*907G= (n.*907G=)
c.1126G= (p.Gly376=)
1g.7663685G>TCA338125289CAMTA1c.1138G>T (p.Gly380Cys)
c.*989G>T (n.*989G>T)
c.1048G>T (p.Gly350Cys)
c.1066G>T (p.Gly356Cys)
c.*907G>T (n.*907G>T)
c.1126G>T (p.Gly376Cys)
1g.7663686G>ACA566375CAMTA1c.1139G>A (p.Gly380Asp)
c.*990G>A (n.*990G>A)
c.1049G>A (p.Gly350Asp)
c.1067G>A (p.Gly356Asp)
c.*908G>A (n.*908G>A)
c.1127G>A (p.Gly376Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.7663686G>CCA338125297CAMTA1c.1139G>C (p.Gly380Ala)
c.*990G>C (n.*990G>C)
c.1049G>C (p.Gly350Ala)
c.1067G>C (p.Gly356Ala)
c.*908G>C (n.*908G>C)
c.1127G>C (p.Gly376Ala)
1g.7663686G=CA1152023701CAMTA1c.1139G= (p.Gly380=)
c.*990G= (n.*990G=)
c.1049G= (p.Gly350=)
c.1067G= (p.Gly356=)
c.*908G= (n.*908G=)
c.1127G= (p.Gly376=)
1g.7663686G>TCA338125302CAMTA1c.1139G>T (p.Gly380Val)
c.*990G>T (n.*990G>T)
c.1049G>T (p.Gly350Val)
c.1067G>T (p.Gly356Val)
c.*908G>T (n.*908G>T)
c.1127G>T (p.Gly376Val)

Number of alleles fetched