Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127823973_127830053delCA1139661202ENGc.-327-226_588+331del
c.220-226_1134+331del
 ClinVar
9g.127823973_127830815delCA1139661203ENGc.-327-988_588+331del
c.220-988_1134+331del
 ClinVar
9g.127824679_127826283delCA1139661205ENGc.-24+229_445+123del
c.523+229_991+123del
 ClinVar
9g.127824681_127830056delCA1139661206ENGc.-327-225_445+123del
c.220-225_991+123del
 ClinVar
9g.127825693_127825861delinsACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGCCA1879975624ENGc.-23-1_143+2delinsGCCCAGGGGTCACTGTCCTTCTGCATGCTGGAAGCCAGCCAGGACATGGGCCGCACGCTCGAGTGGCGGCCGCGTACTCCAGCCTTGGTCCGGGGCTGCCACTTGGAAGGCGTGGCCGGCCACAAGGAGGCGCACATCCTGAGGGTCCTGCCGGGCCACTCGGCCGGGT
c.524-1_689+2delinsGCCCAGGGGTCACTGTCCTTCTGCATGCTGGAAGCCAGCCAGGACATGGGCCGCACGCTCGAGTGGCGGCCGCGTACTCCAGCCTTGGTCCGGGGCTGCCACTTGGAAGGCGTGGCCGGCCACAAGGAGGCGCACATCCTGAGGGTCCTGCCGGGCCACTCGGCCGGGT
n.82+235_82+403delinsACCCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCTTCCAAGTGGCAGCCCCGGACCAAGGCTGGAGTACGCGGCCGCCACTCGAGCGTGCGGCCCATGTCCTGGCTGGCTTCCAGCATGCAGAAGGACAGTGACCCCTGGGC
9g.127825694_127825861delCA1139661213ENGc.-23-1_143+1del
c.524-1_689+1del
n.82+236_82+403del
 ClinVar dbSNP
9g.127825755T>ACA374983600ENGc.83A>T (p.Glu28Val)
c.629A>T (p.Glu210Val)
n.82+297T>A
9g.127825755T>CCA374983599ENGc.83A>G (p.Glu28Gly)
c.629A>G (p.Glu210Gly)
n.82+297T>C
 gnomAD v4
9g.127825755T>GCA374983598ENGc.83A>C (p.Glu28Ala)
c.629A>C (p.Glu210Ala)
n.82+297T>G
9g.127825756C>ACA374983602ENGc.82G>T (p.Glu28Ter)
c.628G>T (p.Glu210Ter)
n.82+298C>A
 gnomAD v4
9g.127825756C=CA1879975915ENGc.82G= (p.Glu28=)
c.628G= (p.Glu210=)
n.82+298C=
9g.127825756C>GCA200314050ENGc.82G>C (p.Glu28Gln)
c.628G>C (p.Glu210Gln)
n.82+298C>G
 dbSNP
9g.127825756C>TCA374983601ENGc.82G>A (p.Glu28Lys)
c.628G>A (p.Glu210Lys)
n.82+298C>T
9g.127825761_127825778delCA2695211306ENGc.65_82del (p.Val22_Leu27del)
c.611_628del (p.Val204_Leu209del)
n.82+303_82+320del
9g.127825757C>ACA374983603ENGc.81G>T (p.Leu27Phe)
c.627G>T (p.Leu209Phe)
n.82+299C>A
 gnomAD v4
9g.127825757C=CA1879975923ENGc.81G= (p.Leu27=)
c.627G= (p.Leu209=)
n.82+299C=
9g.127825757C>GCA5253066ENGc.81G>C (p.Leu27Phe)
c.627G>C (p.Leu209Phe)
n.82+299C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825757C>TCA467231253ENGc.81G>A (p.Leu27=)
c.627G>A (p.Leu209=)
n.82+299C>T
 ClinVar dbSNP gnomAD v4
9g.127825758A=CA1879975938ENGc.80T= (p.Leu27=)
c.626T= (p.Leu209=)
n.82+300A=
9g.127825758A>CCA374983604ENGc.80T>G (p.Leu27Trp)
c.626T>G (p.Leu209Trp)
n.82+300A>C
9g.127825758A>GCA374983605ENGc.80T>C (p.Leu27Ser)
c.626T>C (p.Leu209Ser)
n.82+300A>G
 dbSNP gnomAD v2 gnomAD v4
9g.127825758A>TCA374983606ENGc.80T>A (p.Leu27Ter)
c.626T>A (p.Leu209Ter)
n.82+300A>T
 ClinVar dbSNP
9g.127825759A>CCA374983607ENGc.79T>G (p.Leu27Val)
c.625T>G (p.Leu209Val)
n.82+301A>C
9g.127825759A>GCA467231256ENGc.79T>C (p.Leu27=)
c.625T>C (p.Leu209=)
n.82+301A>G
9g.127825759A>TCA374983608ENGc.79T>A (p.Leu27Met)
c.625T>A (p.Leu209Met)
n.82+301A>T
9g.127825760G>ACA467231259ENGc.78C>T (p.His26=)
c.624C>T (p.His208=)
n.82+302G>A
9g.127825760G>CCA374983609ENGc.78C>G (p.His26Gln)
c.624C>G (p.His208Gln)
n.82+302G>C
9g.127825760G>TCA374983610ENGc.78C>A (p.His26Gln)
c.624C>A (p.His208Gln)
n.82+302G>T
 gnomAD v4
9g.127825761T>ACA374983611ENGc.77A>T (p.His26Leu)
c.623A>T (p.His208Leu)
n.82+303T>A
9g.127825761T>CCA374983612ENGc.77A>G (p.His26Arg)
c.623A>G (p.His208Arg)
n.82+303T>C
9g.127825761T>GCA374983613ENGc.77A>C (p.His26Pro)
c.623A>C (p.His208Pro)
n.82+303T>G
9g.127825762G>ACA374983614ENGc.76C>T (p.His26Tyr)
c.622C>T (p.His208Tyr)
n.82+304G>A
9g.127825762G>CCA374983616ENGc.76C>G (p.His26Asp)
c.622C>G (p.His208Asp)
n.82+304G>C
9g.127825762G>TCA374983615ENGc.76C>A (p.His26Asn)
c.622C>A (p.His208Asn)
n.82+304G>T
 gnomAD v4
9g.127825765_127825793delCA2695211307ENGc.48_76del (p.Arg17LeufsTer?)
c.594_622del (p.Arg199LeufsTer?)
n.82+307_82+335del
9g.127825763G>ACA467231262ENGc.75C>T (p.Cys25=)
c.621C>T (p.Cys207=)
n.82+305G>A
 dbSNP gnomAD v2 gnomAD v4
9g.127825763G>CCA374983617ENGc.75C>G (p.Cys25Trp)
c.621C>G (p.Cys207Trp)
n.82+305G>C
9g.127825763G=CA1879975944ENGc.75C= (p.Cys25=)
c.621C= (p.Cys207=)
n.82+305G=
9g.127825763G>TCA374983618ENGc.75C>A (p.Cys25Ter)
c.621C>A (p.Cys207Ter)
n.82+305G>T
 ClinVar dbSNP gnomAD v4
9g.127825765_127825767delCA2695211308ENGc.73_75del (p.Cys25del)
c.619_621del (p.Cys207del)
n.82+307_82+309del
9g.127825764C>ACA374983619ENGc.74G>T (p.Cys25Phe)
c.620G>T (p.Cys207Phe)
n.82+306C>A
 ClinVar dbSNP
9g.127825764C=CA1879975961ENGc.74G= (p.Cys25=)
c.620G= (p.Cys207=)
n.82+306C=
9g.127825764C>GCA374983620ENGc.74G>C (p.Cys25Ser)
c.620G>C (p.Cys207Ser)
n.82+306C>G
9g.127825764C>TCA374983621ENGc.74G>A (p.Cys25Tyr)
c.620G>A (p.Cys207Tyr)
n.82+306C>T
 ClinVar dbSNP gnomAD v4
9g.127825765delCA2580079683ENGc.73del (p.Cys25AlafsTer15)
c.619del (p.Cys207AlafsTer15)
n.82+307del
 ClinVar
9g.127825765A=CA1879975966ENGc.73T= (p.Cys25=)
c.619T= (p.Cys207=)
n.82+307A=
9g.127825765A>CCA374983622ENGc.73T>G (p.Cys25Gly)
c.619T>G (p.Cys207Gly)
n.82+307A>C
9g.127825765A>GCA374983623ENGc.73T>C (p.Cys25Arg)
c.619T>C (p.Cys207Arg)
n.82+307A>G
 ClinVar dbSNP gnomAD v4
9g.127825765A>TCA374983624ENGc.73T>A (p.Cys25Ser)
c.619T>A (p.Cys207Ser)
n.82+307A>T
9g.127825765dupCA2691809800ENGc.73dup (p.Cys25LeufsTer?)
c.619dup (p.Cys207LeufsTer?)
n.82+307dup
 gnomAD v4
9g.127825766G>ACA467231270ENGc.72C>T (p.Gly24=)
c.618C>T (p.Gly206=)
n.82+308G>A
9g.127825766G>CCA467231266ENGc.72C>G (p.Gly24=)
c.618C>G (p.Gly206=)
n.82+308G>C
9g.127825766G=CA1879975971ENGc.72C= (p.Gly24=)
c.618C= (p.Gly206=)
n.82+308G=
9g.127825766G>TCA467231264ENGc.72C>A (p.Gly24=)
c.618C>A (p.Gly206=)
n.82+308G>T
 ClinVar dbSNP gnomAD v4
9g.127825766dupCA374983625ENGc.72dup (p.Cys25LeufsTer?)
c.618dup (p.Cys207LeufsTer?)
n.82+308dup
 dbSNP
9g.127825766_127825767delinsGCCA1879975976ENGc.71_72delinsGC (p.Gly24=)
c.617_618delinsGC (p.Gly206=)
n.82+308_82+309delinsGC
9g.127825767C>ACA374983626ENGc.71G>T (p.Gly24Val)
c.617G>T (p.Gly206Val)
n.82+309C>A
 gnomAD v4 COSMIC COSMIC
9g.127825767C=CA1879975985ENGc.71G= (p.Gly24=)
c.617G= (p.Gly206=)
n.82+309C=
9g.127825767C>GCA5253067ENGc.71G>C (p.Gly24Ala)
c.617G>C (p.Gly206Ala)
n.82+309C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825767C>TCA374983627ENGc.71G>A (p.Gly24Asp)
c.617G>A (p.Gly206Asp)
n.82+309C>T
9g.127825770delCA1139661216ENGc.71del (p.Gly24AlafsTer16)
c.617del (p.Gly206AlafsTer16)
n.82+312del
 ClinVar dbSNP
9g.127825767_127825768insTGGAGCA2499219643ENGc.70_71insCTCCA (p.Gly24AlafsTer18)
c.616_617insCTCCA (p.Gly206AlafsTer18)
n.82+309_82+310insTGGAG
 dbSNP
9g.127825768C>ACA374983629ENGc.70G>T (p.Gly24Cys)
c.616G>T (p.Gly206Cys)
n.82+310C>A
 dbSNP gnomAD v2 gnomAD v4
9g.127825768C=CA1879975991ENGc.70G= (p.Gly24=)
c.616G= (p.Gly206=)
n.82+310C=
9g.127825768C>GCA374983630ENGc.70G>C (p.Gly24Arg)
c.616G>C (p.Gly206Arg)
n.82+310C>G
9g.127825768C>TCA374983628ENGc.70G>A (p.Gly24Ser)
c.616G>A (p.Gly206Ser)
n.82+310C>T
 dbSNP gnomAD v4
9g.127825769C>ACA467231277ENGc.69G>T (p.Arg23=)
c.615G>T (p.Arg205=)
n.82+311C>A
 ClinVar dbSNP gnomAD v4
9g.127825769C>GCA467231275ENGc.69G>C (p.Arg23=)
c.615G>C (p.Arg205=)
n.82+311C>G
9g.127825769C>TCA467231276ENGc.69G>A (p.Arg23=)
c.615G>A (p.Arg205=)
n.82+311C>T
 ClinVar gnomAD v4
9g.127825770C>ACA374983631ENGc.68G>T (p.Arg23Leu)
c.614G>T (p.Arg205Leu)
n.82+312C>A
 gnomAD v4
9g.127825770C=CA1879975997ENGc.68G= (p.Arg23=)
c.614G= (p.Arg205=)
n.82+312C=
9g.127825770C>GCA374983632ENGc.68G>C (p.Arg23Pro)
c.614G>C (p.Arg205Pro)
n.82+312C>G
 ClinVar
9g.127825770C>TCA5253068ENGc.68G>A (p.Arg23Gln)
c.614G>A (p.Arg205Gln)
n.82+312C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825771G>ACA5253069ENGc.67C>T (p.Arg23Trp)
c.613C>T (p.Arg205Trp)
n.82+313G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825771G>CCA374983633ENGc.67C>G (p.Arg23Gly)
c.613C>G (p.Arg205Gly)
n.82+313G>C
 gnomAD v4
9g.127825771G=CA1879976004ENGc.67C= (p.Arg23=)
c.613C= (p.Arg205=)
n.82+313G=
9g.127825771G>TCA467231281ENGc.67C>A (p.Arg23=)
c.613C>A (p.Arg205=)
n.82+313G>T
 ClinVar gnomAD v4
9g.127825772dupCA2580079684ENGc.67dup (p.Arg23ProfsTer?)
c.613dup (p.Arg205ProfsTer?)
n.82+314dup
 ClinVar
9g.127825772G>ACA467231282ENGc.66C>T (p.Val22=)
c.612C>T (p.Val204=)
n.82+314G>A
 gnomAD v4
9g.127825772G>CCA467231284ENGc.66C>G (p.Val22=)
c.612C>G (p.Val204=)
n.82+314G>C
9g.127825772G>TCA467231283ENGc.66C>A (p.Val22=)
c.612C>A (p.Val204=)
n.82+314G>T
9g.127825773A>CCA374983634ENGc.65T>G (p.Val22Gly)
c.611T>G (p.Val204Gly)
n.82+315A>C
9g.127825773A>GCA374983635ENGc.65T>C (p.Val22Ala)
c.611T>C (p.Val204Ala)
n.82+315A>G
9g.127825773A>TCA374983636ENGc.65T>A (p.Val22Asp)
c.611T>A (p.Val204Asp)
n.82+315A>T
9g.127825774C>ACA374983637ENGc.64G>T (p.Val22Phe)
c.610G>T (p.Val204Phe)
n.82+316C>A
9g.127825774C=CA1879976007ENGc.64G= (p.Val22=)
c.610G= (p.Val204=)
n.82+316C=
9g.127825774C>GCA374983638ENGc.64G>C (p.Val22Leu)
c.610G>C (p.Val204Leu)
n.82+316C>G
9g.127825774C>TCA374983639ENGc.64G>A (p.Val22Ile)
c.610G>A (p.Val204Ile)
n.82+316C>T
 dbSNP
9g.127825775C>ACA374983640ENGc.63G>T (p.Leu21Phe)
c.609G>T (p.Leu203Phe)
n.82+317C>A
 gnomAD v4
9g.127825775C=CA1879976010ENGc.63G= (p.Leu21=)
c.609G= (p.Leu203=)
n.82+317C=
9g.127825775C>GCA5253070ENGc.63G>C (p.Leu21Phe)
c.609G>C (p.Leu203Phe)
n.82+317C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825775C>TCA467231288ENGc.63G>A (p.Leu21=)
c.609G>A (p.Leu203=)
n.82+317C>T
9g.127825776A>CCA374983643ENGc.62T>G (p.Leu21Trp)
c.608T>G (p.Leu203Trp)
n.82+318A>C
9g.127825776A>GCA374983642ENGc.62T>C (p.Leu21Ser)
c.608T>C (p.Leu203Ser)
n.82+318A>G
 gnomAD v4
9g.127825776A>TCA374983641ENGc.62T>A (p.Leu21Ter)
c.608T>A (p.Leu203Ter)
n.82+318A>T
9g.127825777A>CCA374983644ENGc.61T>G (p.Leu21Val)
c.607T>G (p.Leu203Val)
n.82+319A>C
 gnomAD v4
9g.127825777A>GCA467231291ENGc.61T>C (p.Leu21=)
c.607T>C (p.Leu203=)
n.82+319A>G
9g.127825777A>TCA374983645ENGc.61T>A (p.Leu21Met)
c.607T>A (p.Leu203Met)
n.82+319A>T
 gnomAD v4
9g.127825777_127825780delinsGGGCA2695211309ENGc.58_61delinsCCC (p.Ala20ProfsTer20)
c.604_607delinsCCC (p.Ala202ProfsTer20)
n.82+319_82+322delinsGGG
9g.127825778G>ACA467231292ENGc.60C>T (p.Ala20=)
c.606C>T (p.Ala202=)
n.82+320G>A
 ClinVar dbSNP gnomAD v4
9g.127825778G>CCA467231293ENGc.60C>G (p.Ala20=)
c.606C>G (p.Ala202=)
n.82+320G>C
9g.127825778G>TCA467231294ENGc.60C>A (p.Ala20=)
c.606C>A (p.Ala202=)
n.82+320G>T
 gnomAD v4
9g.127825779G>ACA374983646ENGc.59C>T (p.Ala20Val)
c.605C>T (p.Ala202Val)
n.82+321G>A
 gnomAD v4
9g.127825779G>CCA374983647ENGc.59C>G (p.Ala20Gly)
c.605C>G (p.Ala202Gly)
n.82+321G>C
9g.127825779G=CA1879976016ENGc.59C= (p.Ala20=)
c.605C= (p.Ala202=)
n.82+321G=
9g.127825779G>TCA5253071ENGc.59C>A (p.Ala20Asp)
c.605C>A (p.Ala202Asp)
n.82+321G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825781_127825805delCA2580079686ENGc.35_59del (p.Leu12ProfsTer20)
c.581_605del (p.Leu194ProfsTer20)
n.82+323_82+347del
 ClinVar
9g.127825780C>ACA374983648ENGc.58G>T (p.Ala20Ser)
c.604G>T (p.Ala202Ser)
n.82+322C>A
 gnomAD v4
9g.127825780C=CA1879976019ENGc.58G= (p.Ala20=)
c.604G= (p.Ala202=)
n.82+322C=
9g.127825780C>GCA374983649ENGc.58G>C (p.Ala20Pro)
c.604G>C (p.Ala202Pro)
n.82+322C>G
 gnomAD v4
9g.127825780C>TCA374983650ENGc.58G>A (p.Ala20Thr)
c.604G>A (p.Ala202Thr)
n.82+322C>T
9g.127825782_127825800delCA2695211310ENGc.40_58del (p.Trp14ProfsTer20)
c.586_604del (p.Trp196ProfsTer20)
n.82+324_82+342del
9g.127825781T>ACA467231301ENGc.57A>T (p.Pro19=)
c.603A>T (p.Pro201=)
n.82+323T>A
9g.127825781T>CCA467231302ENGc.57A>G (p.Pro19=)
c.603A>G (p.Pro201=)
n.82+323T>C
9g.127825781T>GCA467231303ENGc.57A>C (p.Pro19=)
c.603A>C (p.Pro201=)
n.82+323T>G
9g.127825781_127825784dupCA916081556ENGc.54_57dup (p.Ala20SerfsTer?)
c.600_603dup (p.Ala202SerfsTer?)
n.82+323_82+326dup
 ClinVar dbSNP
9g.127825782G>ACA374983651ENGc.56C>T (p.Pro19Leu)
c.602C>T (p.Pro201Leu)
n.82+324G>A
 gnomAD v4
9g.127825782G>CCA374983652ENGc.56C>G (p.Pro19Arg)
c.602C>G (p.Pro201Arg)
n.82+324G>C
9g.127825782G=CA1879976022ENGc.56C= (p.Pro19=)
c.602C= (p.Pro201=)
n.82+324G=
9g.127825782G>TCA5253072ENGc.56C>A (p.Pro19Gln)
c.602C>A (p.Pro201Gln)
n.82+324G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825783G>ACA374983653ENGc.55C>T (p.Pro19Ser)
c.601C>T (p.Pro201Ser)
n.82+325G>A
 dbSNP gnomAD v3 gnomAD v4
9g.127825783G>CCA374983654ENGc.55C>G (p.Pro19Ala)
c.601C>G (p.Pro201Ala)
n.82+325G>C
9g.127825783G=CA1879976026ENGc.55C= (p.Pro19=)
c.601C= (p.Pro201=)
n.82+325G=
9g.127825783G>TCA374983655ENGc.55C>A (p.Pro19Thr)
c.601C>A (p.Pro201Thr)
n.82+325G>T
 dbSNP gnomAD v2 gnomAD v4
9g.127825786_127825804delCA658682662ENGc.37_55del (p.Glu13GlnfsTer21)
c.583_601del (p.Glu195GlnfsTer21)
n.82+328_82+346del
9g.127825784A=CA1879976030ENGc.54T= (p.Thr18=)
c.600T= (p.Thr200=)
n.82+326A=
9g.127825784A>CCA467231308ENGc.54T>G (p.Thr18=)
c.600T>G (p.Thr200=)
n.82+326A>C
 dbSNP gnomAD v3 gnomAD v4
9g.127825784A>GCA467231309ENGc.54T>C (p.Thr18=)
c.600T>C (p.Thr200=)
n.82+326A>G
9g.127825784A>TCA467231311ENGc.54T>A (p.Thr18=)
c.600T>A (p.Thr200=)
n.82+326A>T
9g.127825785G>ACA374983657ENGc.53C>T (p.Thr18Ile)
c.599C>T (p.Thr200Ile)
n.82+327G>A
9g.127825785G>CCA374983658ENGc.53C>G (p.Thr18Ser)
c.599C>G (p.Thr200Ser)
n.82+327G>C
9g.127825785G>TCA374983656ENGc.53C>A (p.Thr18Asn)
c.599C>A (p.Thr200Asn)
n.82+327G>T
9g.127825787_127825807delCA2739291267ENGc.33_53del (p.Leu12_Thr18del)
c.579_599del (p.Leu194_Thr200del)
n.82+329_82+349del
9g.127825786T>ACA374983659ENGc.52A>T (p.Thr18Ser)
c.598A>T (p.Thr200Ser)
n.82+328T>A
9g.127825786T>CCA374983660ENGc.52A>G (p.Thr18Ala)
c.598A>G (p.Thr200Ala)
n.82+328T>C
9g.127825786T>GCA374983661ENGc.52A>C (p.Thr18Pro)
c.598A>C (p.Thr200Pro)
n.82+328T>G
9g.127825787A=CA1879976035ENGc.51T= (p.Arg17=)
c.597T= (p.Arg199=)
n.82+329A=
9g.127825787A>CCA467231318ENGc.51T>G (p.Arg17=)
c.597T>G (p.Arg199=)
n.82+329A>C
9g.127825787A>GCA467231319ENGc.51T>C (p.Arg17=)
c.597T>C (p.Arg199=)
n.82+329A>G
9g.127825787A>TCA467231320ENGc.51T>A (p.Arg17=)
c.597T>A (p.Arg199=)
n.82+329A>T
9g.127825788C>ACA374983662ENGc.50G>T (p.Arg17Leu)
c.596G>T (p.Arg199Leu)
n.82+330C>A
 dbSNP gnomAD v4
9g.127825788C=CA1879976051ENGc.50G= (p.Arg17=)
c.596G= (p.Arg199=)
n.82+330C=
9g.127825788C>GCA374983663ENGc.50G>C (p.Arg17Pro)
c.596G>C (p.Arg199Pro)
n.82+330C>G
 dbSNP gnomAD v2 gnomAD v4
9g.127825788C>TCA5253073ENGc.50G>A (p.Arg17His)
c.596G>A (p.Arg199His)
n.82+330C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.127825790_127825791dupCA658797293ENGc.49_50dup (p.Thr18ValfsTer23)
c.595_596dup (p.Thr200ValfsTer23)
n.82+332_82+333dup
 ClinVar dbSNP
9g.127825790_127825791delCA2691809894ENGc.49_50del (p.Arg17TyrfsTer?)
c.595_596del (p.Arg199TyrfsTer?)
n.82+332_82+333del
 gnomAD v4
9g.127825788_127825806delCA2695211312ENGc.32_50del (p.Thr11IlefsTer23)
c.578_596del (p.Thr193IlefsTer23)
n.82+330_82+348del
9g.127825790_127825806delCA2573143985ENGc.34_50del (p.Leu12TyrfsTer?)
c.580_596del (p.Leu194TyrfsTer?)
n.82+332_82+348del
 ClinVar dbSNP
9g.127825790_127825810delCA2695211311ENGc.30_50del (p.Thr11_Arg17del)
c.576_596del (p.Thr193_Arg199del)
n.82+332_82+352del
9g.127825789G>ACA5253074ENGc.49C>T (p.Arg17Cys)
c.595C>T (p.Arg199Cys)
n.495C>T
n.82+331G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825789G>CCA374983664ENGc.49C>G (p.Arg17Gly)
c.595C>G (p.Arg199Gly)
n.495C>G
n.82+331G>C
9g.127825789G=CA1879976061ENGc.49C= (p.Arg17=)
c.595C= (p.Arg199=)
n.495C=
n.82+331G=
9g.127825789G>TCA374983665ENGc.49C>A (p.Arg17Ser)
c.595C>A (p.Arg199Ser)
n.495C>A
n.82+331G>T
 gnomAD v4
9g.127825789dupCA2580079687ENGc.49dup (p.Arg17ProfsTer?)
c.595dup (p.Arg199ProfsTer?)
n.82+331dup
 ClinVar
9g.127825792_127825806delCA2695211313ENGc.35_49del (p.Leu12_Pro16del)
c.581_595del (p.Leu194_Pro198del)
n.481_495del
n.82+334_82+348del
9g.127825790C>ACA467231323ENGc.48G>T (p.Pro16=)
c.594G>T (p.Pro198=)
n.494G>T
n.82+332C>A
 gnomAD v4
9g.127825790C=CA1879976067ENGc.48G= (p.Pro16=)
c.594G= (p.Pro198=)
n.494G=
n.82+332C=
9g.127825790C>GCA467231327ENGc.48G>C (p.Pro16=)
c.594G>C (p.Pro198=)
n.494G>C
n.82+332C>G
9g.127825790C>TCA5253075ENGc.48G>A (p.Pro16=)
c.594G>A (p.Pro198=)
n.494G>A
n.82+332C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825791G>ACA5253077ENGc.47C>T (p.Pro16Leu)
c.593C>T (p.Pro198Leu)
n.493C>T
n.82+333G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825791G>CCA374983666ENGc.47C>G (p.Pro16Arg)
c.593C>G (p.Pro198Arg)
n.493C>G
n.82+333G>C
 ClinVar dbSNP
9g.127825791G=CA1879976074ENGc.47C= (p.Pro16=)
c.593C= (p.Pro198=)
n.493C=
n.82+333G=
9g.127825791G>TCA5253076ENGc.47C>A (p.Pro16Gln)
c.593C>A (p.Pro198Gln)
n.493C>A
n.82+333G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825792delCA2695211314ENGc.47del (p.Pro16ArgfsTer24)
c.593del (p.Pro198ArgfsTer24)
n.493del
n.82+334del
9g.127825791_127825803delinsGGCCGCCACTCGACA1879976084ENGc.35_47delinsTCGAGTGGCGGCC (p.Leu12=)
c.581_593delinsTCGAGTGGCGGCC (p.Leu194=)
n.481_493delinsTCGAGTGGCGGCC
n.82+333_82+345delinsGGCCGCCACTCGA
9g.127825792G>ACA374983668ENGc.46C>T (p.Pro16Ser)
c.592C>T (p.Pro198Ser)
n.492C>T
n.82+334G>A
 gnomAD v4
9g.127825792G>CCA374983667ENGc.46C>G (p.Pro16Ala)
c.592C>G (p.Pro198Ala)
n.492C>G
n.82+334G>C
9g.127825792G=CA1879976098ENGc.46C= (p.Pro16=)
c.592C= (p.Pro198=)
n.492C=
n.82+334G=
9g.127825792G>TCA200314080ENGc.46C>A (p.Pro16Thr)
c.592C>A (p.Pro198Thr)
n.492C>A
n.82+334G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.127825794_127825805delCA658821461ENGc.35_46del (p.Leu12_Arg15del)
c.581_592del (p.Leu194_Arg197del)
n.481_492del
n.82+336_82+347del
 ClinVar dbSNP
9g.127825793C>ACA467231332ENGc.45G>T (p.Arg15=)
c.591G>T (p.Arg197=)
n.491G>T
n.82+335C>A
9g.127825793C=CA1879976111ENGc.45G= (p.Arg15=)
c.591G= (p.Arg197=)
n.491G=
n.82+335C=
9g.127825793C>GCA467231333ENGc.45G>C (p.Arg15=)
c.591G>C (p.Arg197=)
n.491G>C
n.82+335C>G
9g.127825793C>TCA467231334ENGc.45G>A (p.Arg15=)
c.591G>A (p.Arg197=)
n.491G>A
n.82+335C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127825794delCA2695211315ENGc.45del (p.Pro16ArgfsTer24)
c.591del (p.Pro198ArgfsTer24)
n.491del
n.82+336del
9g.127825794C>ACA374983669ENGc.44G>T (p.Arg15Leu)
c.590G>T (p.Arg197Leu)
n.490G>T
n.82+336C>A
 gnomAD v4
9g.127825794C=CA1879976116ENGc.44G= (p.Arg15=)
c.590G= (p.Arg197=)
n.490G=
n.82+336C=
9g.127825794C>GCA374983670ENGc.44G>C (p.Arg15Pro)
c.590G>C (p.Arg197Pro)
n.490G>C
n.82+336C>G
9g.127825794C>TCA5253078ENGc.44G>A (p.Arg15Gln)
c.590G>A (p.Arg197Gln)
n.490G>A
n.82+336C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825795_127825799delCA2691809941ENGc.40_44del (p.Trp14AlafsTer?)
c.586_590del (p.Trp196AlafsTer?)
n.486_490del
n.82+337_82+341del
 gnomAD v4
9g.127825795G>ACA5253079ENGc.43C>T (p.Arg15Trp)
c.589C>T (p.Arg197Trp)
n.489C>T
n.82+337G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825795G>CCA374983671ENGc.43C>G (p.Arg15Gly)
c.589C>G (p.Arg197Gly)
n.489C>G
n.82+337G>C
9g.127825795G=CA1879976131ENGc.43C= (p.Arg15=)
c.589C= (p.Arg197=)
n.489C=
n.82+337G=
9g.127825795G>TCA467231341ENGc.43C>A (p.Arg15=)
c.589C>A (p.Arg197=)
n.489C>A
n.82+337G>T
9g.127825795_127825807delinsGCCACTCGAGCGTCA1879976133ENGc.31_43delinsACGCTCGAGTGGC (p.Thr11=)
c.577_589delinsACGCTCGAGTGGC (p.Thr193=)
n.477_489delinsACGCTCGAGTGGC
n.82+337_82+349delinsGCCACTCGAGCGT
9g.127825796C>ACA374983672ENGc.42G>T (p.Trp14Cys)
c.588G>T (p.Trp196Cys)
n.488G>T
n.82+338C>A
 gnomAD v4
9g.127825796C=CA1879976152ENGc.42G= (p.Trp14=)
c.588G= (p.Trp196=)
n.488G=
n.82+338C=
9g.127825796C>GCA374983673ENGc.42G>C (p.Trp14Cys)
c.588G>C (p.Trp196Cys)
n.488G>C
n.82+338C>G
9g.127825796C>TCA374983674ENGc.42G>A (p.Trp14Ter)
c.588G>A (p.Trp196Ter)
n.488G>A
n.82+338C>T
 ClinVar dbSNP
9g.127825796_127825807delinsACCA1139661217ENGc.31_42delinsGT (p.Thr11ValfsTer26)
c.577_588delinsGT (p.Thr193ValfsTer26)
n.477_488delinsGT
n.82+338_82+349delinsAC
 ClinVar dbSNP
9g.127825797C>ACA374983675ENGc.41G>T (p.Trp14Leu)
c.587G>T (p.Trp196Leu)
n.487G>T
n.82+339C>A
9g.127825797C=CA1879976160ENGc.41G= (p.Trp14=)
c.587G= (p.Trp196=)
n.487G=
n.82+339C=
9g.127825797C>GCA374983676ENGc.41G>C (p.Trp14Ser)
c.587G>C (p.Trp196Ser)
n.487G>C
n.82+339C>G
9g.127825797C>TCA374983677ENGc.41G>A (p.Trp14Ter)
c.587G>A (p.Trp196Ter)
n.487G>A
n.82+339C>T
 ClinVar dbSNP
9g.127825798A>CCA374983678ENGc.40T>G (p.Trp14Gly)
c.586T>G (p.Trp196Gly)
n.486T>G
n.82+340A>C
9g.127825798A>GCA374983680ENGc.40T>C (p.Trp14Arg)
c.586T>C (p.Trp196Arg)
n.486T>C
n.82+340A>G
 ClinVar dbSNP
9g.127825798A>TCA374983679ENGc.40T>A (p.Trp14Arg)
c.586T>A (p.Trp196Arg)
n.486T>A
n.82+340A>T
 ClinVar dbSNP
9g.127825799C>ACA374983681ENGc.39G>T (p.Glu13Asp)
c.585G>T (p.Glu195Asp)
n.485G>T
n.82+341C>A
9g.127825799C=CA1879976199ENGc.39G= (p.Glu13=)
c.585G= (p.Glu195=)
n.485G=
n.82+341C=
9g.127825799C>GCA374983682ENGc.39G>C (p.Glu13Asp)
c.585G>C (p.Glu195Asp)
n.485G>C
n.82+341C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127825799C>TCA467231344ENGc.39G>A (p.Glu13=)
c.585G>A (p.Glu195=)
n.485G>A
n.82+341C>T
 gnomAD v4
9g.127825800T>ACA374983683ENGc.38A>T (p.Glu13Val)
c.584A>T (p.Glu195Val)
n.484A>T
n.82+342T>A
9g.127825800T>CCA374983684ENGc.38A>G (p.Glu13Gly)
c.584A>G (p.Glu195Gly)
n.484A>G
n.82+342T>C
9g.127825800T>GCA374983685ENGc.38A>C (p.Glu13Ala)
c.584A>C (p.Glu195Ala)
n.484A>C
n.82+342T>G
9g.127825800_127825801delinsTCCA1879976205ENGc.37_38delinsGA (p.Glu13=)
c.583_584delinsGA (p.Glu195=)
n.483_484delinsGA
n.82+342_82+343delinsTC
9g.127825800_127825802delCA2580079689ENGc.36_38del (p.Glu13del)
c.582_584del (p.Glu195del)
n.482_484del
n.82+342_82+344del
 ClinVar
9g.127825801delCA658797294ENGc.37del (p.Glu13SerfsTer27)
c.583del (p.Glu195SerfsTer27)
n.483del
n.82+343del
 ClinVar dbSNP
9g.127825801C>ACA374983686ENGc.37G>T (p.Glu13Ter)
c.583G>T (p.Glu195Ter)
n.483G>T
n.82+343C>A
9g.127825801C=CA1879976215ENGc.37G= (p.Glu13=)
c.583G= (p.Glu195=)
n.483G=
n.82+343C=
9g.127825801C>GCA374983687ENGc.37G>C (p.Glu13Gln)
c.583G>C (p.Glu195Gln)
n.483G>C
n.82+343C>G
 ClinVar dbSNP gnomAD v4
9g.127825801C>TCA374983688ENGc.37G>A (p.Glu13Lys)
c.583G>A (p.Glu195Lys)
n.483G>A
n.82+343C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127825801_127825815delCA2691809964ENGc.23_37del (p.Met8_Glu13delinsLys)
c.569_583del (p.Met190_Glu195delinsLys)
n.469_483del
n.82+343_82+357del
 gnomAD v4
9g.127825801_127825802insCATGCA2580079690ENGc.36_37insCATG (p.Glu13HisfsTer?)
c.582_583insCATG (p.Glu195HisfsTer?)
n.482_483insCATG
n.82+343_82+344insCATG
 ClinVar
9g.127825802G>ACA5253080ENGc.36C>T (p.Leu12=)
c.582C>T (p.Leu194=)
n.482C>T
n.82+344G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825802G>CCA467231345ENGc.36C>G (p.Leu12=)
c.582C>G (p.Leu194=)
n.482C>G
n.82+344G>C
9g.127825802G=CA1879976231ENGc.36C= (p.Leu12=)
c.582C= (p.Leu194=)
n.482C=
n.82+344G=
9g.127825802G>TCA467231347ENGc.36C>A (p.Leu12=)
c.582C>A (p.Leu194=)
n.482C>A
n.82+344G>T
9g.127825803_127825804delCA2580079691ENGc.35_36del (p.Leu12ArgfsTer?)
c.581_582del (p.Leu194ArgfsTer?)
n.481_482del
n.82+345_82+346del
 ClinVar
9g.127825802_127825807delinsCTGGAGTACCA2695211316ENGc.31_36delinsGTACTCCAG (p.Thr11_Leu12delinsValLeuGln)
c.577_582delinsGTACTCCAG (p.Thr193_Leu194delinsValLeuGln)
n.477_482delinsGTACTCCAG
n.82+344_82+349delinsCTGGAGTAC
9g.127825803A>CCA374983689ENGc.35T>G (p.Leu12Arg)
c.581T>G (p.Leu194Arg)
n.481T>G
n.82+345A>C
9g.127825803A>GCA374983690ENGc.35T>C (p.Leu12Pro)
c.581T>C (p.Leu194Pro)
n.481T>C
n.82+345A>G
 ClinVar dbSNP
9g.127825803A>TCA374983691ENGc.35T>A (p.Leu12His)
c.581T>A (p.Leu194His)
n.481T>A
n.82+345A>T
9g.127825803_127825810delinsAGCGTGCGCA1879976239ENGc.28_35delinsCGCACGCT (p.Arg10=)
c.574_581delinsCGCACGCT (p.Arg192=)
n.474_481delinsCGCACGCT
n.82+345_82+352delinsAGCGTGCG
9g.127825804G>ACA374983692ENGc.34C>T (p.Leu12Phe)
c.580C>T (p.Leu194Phe)
n.480C>T
n.82+346G>A
9g.127825804G>CCA374983693ENGc.34C>G (p.Leu12Val)
c.580C>G (p.Leu194Val)
n.480C>G
n.82+346G>C
9g.127825804G>TCA374983694ENGc.34C>A (p.Leu12Ile)
c.580C>A (p.Leu194Ile)
n.480C>A
n.82+346G>T
 gnomAD v4
9g.127825805_127825806delCA2580079692ENGc.33_34del (p.Leu12ArgfsTer?)
c.579_580del (p.Leu194ArgfsTer?)
n.479_480del
n.82+347_82+348del
 ClinVar
9g.127825807_127825810dupCA2695211317ENGc.31_34dup (p.Leu12HisfsTer?)
c.577_580dup (p.Leu194HisfsTer?)
n.477_480dup
n.82+349_82+352dup
9g.127825806_127825812delCA913189494ENGc.28_34del (p.Arg10SerfsTer28)
c.574_580del (p.Arg192SerfsTer28)
n.474_480del
n.82+348_82+354del
 ClinVar dbSNP
9g.127825805C>ACA467231350ENGc.33G>T (p.Thr11=)
c.579G>T (p.Thr193=)
n.479G>T
n.82+347C>A
 gnomAD v4
9g.127825805C=CA1879976252ENGc.33G= (p.Thr11=)
c.579G= (p.Thr193=)
n.479G=
n.82+347C=
9g.127825805C>GCA467231351ENGc.33G>C (p.Thr11=)
c.579G>C (p.Thr193=)
n.479G>C
n.82+347C>G
 dbSNP gnomAD v4
9g.127825805C>TCA5253081ENGc.33G>A (p.Thr11=)
c.579G>A (p.Thr193=)
n.479G>A
n.82+347C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825806G>ACA5253082ENGc.32C>T (p.Thr11Met)
c.578C>T (p.Thr193Met)
n.478C>T
n.82+348G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825806G>CCA374983695ENGc.32C>G (p.Thr11Arg)
c.578C>G (p.Thr193Arg)
n.478C>G
n.82+348G>C
 gnomAD v4
9g.127825806G=CA1879976261ENGc.32C= (p.Thr11=)
c.578C= (p.Thr193=)
n.478C=
n.82+348G=
9g.127825806G>TCA5253083ENGc.32C>A (p.Thr11Lys)
c.578C>A (p.Thr193Lys)
n.478C>A
n.82+348G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825807T>ACA374983696ENGc.31A>T (p.Thr11Ser)
c.577A>T (p.Thr193Ser)
n.477A>T
n.82+349T>A
9g.127825807T>CCA374983697ENGc.31A>G (p.Thr11Ala)
c.577A>G (p.Thr193Ala)
n.477A>G
n.82+349T>C
 ClinVar dbSNP
9g.127825807T>GCA374983698ENGc.31A>C (p.Thr11Pro)
c.577A>C (p.Thr193Pro)
n.477A>C
n.82+349T>G
 dbSNP
9g.127825807T=CA1879976265ENGc.31A= (p.Thr11=)
c.577A= (p.Thr193=)
n.477A=
n.82+349T=
9g.127825807_127825809dupCA2697558070ENGc.29_31dup (p.Arg10_Thr11insSer)
c.575_577dup (p.Arg192_Thr193insSer)
n.475_477dup
n.82+349_82+351dup
 ClinVar
9g.127825808G>ACA467231357ENGc.30C>T (p.Arg10=)
c.576C>T (p.Arg192=)
n.476C>T
n.82+350G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127825808G>CCA467231358ENGc.30C>G (p.Arg10=)
c.576C>G (p.Arg192=)
n.476C>G
n.82+350G>C
 ClinVar
9g.127825808G=CA1879976271ENGc.30C= (p.Arg10=)
c.576C= (p.Arg192=)
n.476C=
n.82+350G=
9g.127825808G>TCA467231360ENGc.30C>A (p.Arg10=)
c.576C>A (p.Arg192=)
n.476C>A
n.82+350G>T
9g.127825809_127825810dupCA2695211318ENGc.29_30dup (p.Thr11AlafsTer30)
c.575_576dup (p.Thr193AlafsTer30)
n.475_476dup
n.82+351_82+352dup
9g.127825809C>ACA374983699ENGc.29G>T (p.Arg10Leu)
c.575G>T (p.Arg192Leu)
n.475G>T
n.82+351C>A
 gnomAD v4
9g.127825809C=CA1879976278ENGc.29G= (p.Arg10=)
c.575G= (p.Arg192=)
n.475G=
n.82+351C=
9g.127825809C>GCA374983700ENGc.29G>C (p.Arg10Pro)
c.575G>C (p.Arg192Pro)
n.475G>C
n.82+351C>G
9g.127825809C>TCA200314095ENGc.29G>A (p.Arg10His)
c.575G>A (p.Arg192His)
n.475G>A
n.82+351C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127825810G>ACA5253084ENGc.28C>T (p.Arg10Cys)
c.574C>T (p.Arg192Cys)
n.474C>T
n.82+352G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825810G>CCA5253085ENGc.28C>G (p.Arg10Gly)
c.574C>G (p.Arg192Gly)
n.474C>G
n.82+352G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825810G=CA1879976287ENGc.28C= (p.Arg10=)
c.574C= (p.Arg192=)
n.474C=
n.82+352G=
9g.127825810G>TCA374983701ENGc.28C>A (p.Arg10Ser)
c.574C>A (p.Arg192Ser)
n.474C>A
n.82+352G>T
 gnomAD v4
9g.127825811delCA2695211319ENGc.28del (p.Arg10AlafsTer30)
c.574del (p.Arg192AlafsTer30)
n.474del
n.82+353del
9g.127825810_127825813delinsGGCCCA1879976284ENGc.25_28delinsGGCC (p.Gly9=)
c.571_574delinsGGCC (p.Gly191=)
n.471_474delinsGGCC
n.82+352_82+355delinsGGCC
9g.127825811G>ACA467231366ENGc.27C>T (p.Gly9=)
c.573C>T (p.Gly191=)
n.473C>T
n.82+353G>A
9g.127825811G>CCA467231368ENGc.27C>G (p.Gly9=)
c.573C>G (p.Gly191=)
n.473C>G
n.82+353G>C
9g.127825811G>TCA467231367ENGc.27C>A (p.Gly9=)
c.573C>A (p.Gly191=)
n.473C>A
n.82+353G>T
 gnomAD v4
9g.127825811_127825812delinsGCCA1879976302ENGc.26_27delinsGC (p.Gly9=)
c.572_573delinsGC (p.Gly191=)
n.472_473delinsGC
n.82+353_82+354delinsGC
9g.127825811_127825813delinsCACA1139661218ENGc.25_27delinsTG (p.Gly9CysfsTer?)
c.571_573delinsTG (p.Gly191CysfsTer?)
n.471_473delinsTG
n.82+353_82+355delinsCA
 ClinVar dbSNP
9g.127825811_127825828delCA2785996592ENGc.10_27del (p.Ala4_Gly9del)
c.556_573del (p.Ala186_Gly191del)
n.456_473del
n.82+353_82+370del
9g.127825812C>ACA374983702ENGc.26G>T (p.Gly9Val)
c.572G>T (p.Gly191Val)
n.472G>T
n.82+354C>A
 gnomAD v4
9g.127825812C=CA1879976318ENGc.26G= (p.Gly9=)
c.572G= (p.Gly191=)
n.472G=
n.82+354C=
9g.127825812C>GCA374983703ENGc.26G>C (p.Gly9Ala)
c.572G>C (p.Gly191Ala)
n.472G>C
n.82+354C>G
9g.127825812C>TCA325327ENGc.26G>A (p.Gly9Asp)
c.572G>A (p.Gly191Asp)
n.472G>A
n.82+354C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.127825814delCA891842559ENGc.26del (p.Gly9AlafsTer?)
c.572del (p.Gly191AlafsTer?)
n.472del
n.82+356del
 ClinVar dbSNP
9g.127825813C>ACA374983704ENGc.25G>T (p.Gly9Cys)
c.571G>T (p.Gly191Cys)
n.471G>T
n.82+355C>A
 gnomAD v4
9g.127825813C>GCA374983706ENGc.25G>C (p.Gly9Arg)
c.571G>C (p.Gly191Arg)
n.471G>C
n.82+355C>G
 gnomAD v4
9g.127825813C>TCA374983705ENGc.25G>A (p.Gly9Ser)
c.571G>A (p.Gly191Ser)
n.471G>A
n.82+355C>T
9g.127825814C>ACA374983707ENGc.24G>T (p.Met8Ile)
c.570G>T (p.Met190Ile)
n.470G>T
n.82+356C>A
 gnomAD v4
9g.127825814C>GCA374983708ENGc.24G>C (p.Met8Ile)
c.570G>C (p.Met190Ile)
n.470G>C
n.82+356C>G
9g.127825814C>TCA374983709ENGc.24G>A (p.Met8Ile)
c.570G>A (p.Met190Ile)
n.470G>A
n.82+356C>T
 gnomAD v4
9g.127825815A=CA1879976329ENGc.23T= (p.Met8=)
c.569T= (p.Met190=)
n.469T=
n.82+357A=
9g.127825815A>CCA374983710ENGc.23T>G (p.Met8Arg)
c.569T>G (p.Met190Arg)
n.469T>G
n.82+357A>C
9g.127825815A>GCA374983711ENGc.23T>C (p.Met8Thr)
c.569T>C (p.Met190Thr)
n.469T>C
n.82+357A>G
 gnomAD v4
9g.127825815A>TCA374983712ENGc.23T>A (p.Met8Lys)
c.569T>A (p.Met190Lys)
n.469T>A
n.82+357A>T
 ClinVar dbSNP
9g.127825816T>ACA374983714ENGc.22A>T (p.Met8Leu)
c.568A>T (p.Met190Leu)
n.468A>T
n.82+358T>A
9g.127825816T>CCA5253086ENGc.22A>G (p.Met8Val)
c.568A>G (p.Met190Val)
n.468A>G
n.82+358T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825816T>GCA374983713ENGc.22A>C (p.Met8Leu)
c.568A>C (p.Met190Leu)
n.468A>C
n.82+358T>G
9g.127825816T=CA1879976336ENGc.22A= (p.Met8=)
c.568A= (p.Met190=)
n.468A=
n.82+358T=
9g.127825817G>ACA467231372ENGc.21C>T (p.Asp7=)
c.567C>T (p.Asp189=)
n.467C>T
n.82+359G>A
9g.127825817G>CCA374983715ENGc.21C>G (p.Asp7Glu)
c.567C>G (p.Asp189Glu)
n.467C>G
n.82+359G>C
9g.127825817G=CA1879976341ENGc.21C= (p.Asp7=)
c.567C= (p.Asp189=)
n.467C=
n.82+359G=
9g.127825817G>TCA374983716ENGc.21C>A (p.Asp7Glu)
c.567C>A (p.Asp189Glu)
n.467C>A
n.82+359G>T
 dbSNP gnomAD v2 gnomAD v4
9g.127825818T>ACA374983717ENGc.20A>T (p.Asp7Val)
c.566A>T (p.Asp189Val)
n.466A>T
n.82+360T>A
9g.127825818T>CCA374983718ENGc.20A>G (p.Asp7Gly)
c.566A>G (p.Asp189Gly)
n.466A>G
n.82+360T>C
9g.127825818T>GCA374983719ENGc.20A>C (p.Asp7Ala)
c.566A>C (p.Asp189Ala)
n.466A>C
n.82+360T>G
 dbSNP
9g.127825818T=CA1879976346ENGc.20A= (p.Asp7=)
c.566A= (p.Asp189=)
n.466A=
n.82+360T=
9g.127825819C>ACA5253088ENGc.19G>T (p.Asp7Tyr)
c.565G>T (p.Asp189Tyr)
n.465G>T
n.82+361C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825819C=CA1879976357ENGc.19G= (p.Asp7=)
c.565G= (p.Asp189=)
n.465G=
n.82+361C=
9g.127825819C>GCA374983720ENGc.19G>C (p.Asp7His)
c.565G>C (p.Asp189His)
n.465G>C
n.82+361C>G
9g.127825819C>TCA5253087ENGc.19G>A (p.Asp7Asn)
c.565G>A (p.Asp189Asn)
n.465G>A
n.82+361C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825820C>ACA374983721ENGc.18G>T (p.Gln6His)
c.564G>T (p.Gln188His)
n.464G>T
n.82+362C>A
 gnomAD v4
9g.127825820C=CA1879976361ENGc.18G= (p.Gln6=)
c.564G= (p.Gln188=)
n.464G=
n.82+362C=
9g.127825820C>GCA374983722ENGc.18G>C (p.Gln6His)
c.564G>C (p.Gln188His)
n.464G>C
n.82+362C>G
9g.127825820C>TCA467231374ENGc.18G>A (p.Gln6=)
c.564G>A (p.Gln188=)
n.464G>A
n.82+362C>T
 ClinVar dbSNP
9g.127825821T>ACA374983723ENGc.17A>T (p.Gln6Leu)
c.563A>T (p.Gln188Leu)
n.463A>T
n.82+363T>A
9g.127825821T>CCA200314113ENGc.17A>G (p.Gln6Arg)
c.563A>G (p.Gln188Arg)
n.463A>G
n.82+363T>C
 dbSNP
9g.127825821T>GCA374983724ENGc.17A>C (p.Gln6Pro)
c.563A>C (p.Gln188Pro)
n.463A>C
n.82+363T>G
9g.127825821T=CA1879976363ENGc.17A= (p.Gln6=)
c.563A= (p.Gln188=)
n.463A=
n.82+363T=
9g.127825822G>ACA324406ENGc.16C>T (p.Gln6Ter)
c.562C>T (p.Gln188Ter)
n.462C>T
n.82+364G>A
 ClinVar dbSNP gnomAD v4
9g.127825822G>CCA374983725ENGc.16C>G (p.Gln6Glu)
c.562C>G (p.Gln188Glu)
n.462C>G
n.82+364G>C
9g.127825822G=CA1879976372ENGc.16C= (p.Gln6=)
c.562C= (p.Gln188=)
n.462C=
n.82+364G=
9g.127825822G>TCA374983726ENGc.16C>A (p.Gln6Lys)
c.562C>A (p.Gln188Lys)
n.462C>A
n.82+364G>T
 gnomAD v4
9g.127825823dupCA915947183ENGc.16dup (p.Gln6ProfsTer?)
c.562dup (p.Gln188ProfsTer?)
n.462dup
n.82+365dup
 ClinVar dbSNP
9g.127825823G>ACA467231375ENGc.15C>T (p.Ser5=)
c.561C>T (p.Ser187=)
n.461C>T
n.82+365G>A
 gnomAD v4
9g.127825823G>CCA374983727ENGc.15C>G (p.Ser5Arg)
c.561C>G (p.Ser187Arg)
n.461C>G
n.82+365G>C
9g.127825823G=CA1879976380ENGc.15C= (p.Ser5=)
c.561C= (p.Ser187=)
n.461C=
n.82+365G=
9g.127825823G>TCA5253089ENGc.15C>A (p.Ser5Arg)
c.561C>A (p.Ser187Arg)
n.461C>A
n.82+365G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127825824C>ACA374983728ENGc.14G>T (p.Ser5Ile)
c.560G>T (p.Ser187Ile)
n.460G>T
n.82+366C>A
 gnomAD v4
9g.127825824C>GCA374983730ENGc.14G>C (p.Ser5Thr)
c.560G>C (p.Ser187Thr)
n.460G>C
n.82+366C>G
9g.127825824C>TCA374983729ENGc.14G>A (p.Ser5Asn)
c.560G>A (p.Ser187Asn)
n.460G>A
n.82+366C>T
 gnomAD v4
9g.127825825T>ACA374983731ENGc.13A>T (p.Ser5Cys)
c.559A>T (p.Ser187Cys)
n.459A>T
n.82+367T>A
9g.127825825T>CCA374983733ENGc.13A>G (p.Ser5Gly)
c.559A>G (p.Ser187Gly)
n.459A>G
n.82+367T>C
 gnomAD v4
9g.127825825T>GCA374983732ENGc.13A>C (p.Ser5Arg)
c.559A>C (p.Ser187Arg)
n.459A>C
n.82+367T>G
9g.127825826G>ACA467231376ENGc.12C>T (p.Ala4=)
c.558C>T (p.Ala186=)
n.458C>T
n.82+368G>A
9g.127825826G>CCA467231377ENGc.12C>G (p.Ala4=)
c.558C>G (p.Ala186=)
n.458C>G
n.82+368G>C
9g.127825826G>TCA467231379ENGc.12C>A (p.Ala4=)
c.558C>A (p.Ala186=)
n.458C>A
n.82+368G>T
 gnomAD v4
9g.127825827delCA2573053103ENGc.12del (p.Ser5AlafsTer?)
c.558del (p.Ser187AlafsTer?)
n.458del
n.82+369del
 ClinVar dbSNP
9g.127825827G>ACA374983734ENGc.11C>T (p.Ala4Val)
c.557C>T (p.Ala186Val)
n.457C>T
n.82+369G>A
 dbSNP gnomAD v2 gnomAD v4
9g.127825827G>CCA374983735ENGc.11C>G (p.Ala4Gly)
c.557C>G (p.Ala186Gly)
n.457C>G
n.82+369G>C
9g.127825827G=CA1879976385ENGc.11C= (p.Ala4=)
c.557C= (p.Ala186=)
n.457C=
n.82+369G=
9g.127825827G>TCA374983736ENGc.11C>A (p.Ala4Asp)
c.557C>A (p.Ala186Asp)
n.457C>A
n.82+369G>T
 dbSNP
9g.127825828C>ACA374983737ENGc.10G>T (p.Ala4Ser)
c.556G>T (p.Ala186Ser)
n.456G>T
n.82+370C>A
 dbSNP gnomAD v2 gnomAD v4
9g.127825828C=CA1879976391ENGc.10G= (p.Ala4=)
c.556G= (p.Ala186=)
n.456G=
n.82+370C=
9g.127825828C>GCA374983738ENGc.10G>C (p.Ala4Pro)
c.556G>C (p.Ala186Pro)
n.456G>C
n.82+370C>G
9g.127825828C>TCA374983739ENGc.10G>A (p.Ala4Thr)
c.556G>A (p.Ala186Thr)
n.456G>A
n.82+370C>T
 ClinVar dbSNP gnomAD v4
9g.127825829T>ACA374983740ENGc.9A>T (p.Glu3Asp)
c.555A>T (p.Glu185Asp)
n.455A>T
n.82+371T>A
9g.127825829T>CCA467231380ENGc.9A>G (p.Glu3=)
c.555A>G (p.Glu185=)
n.455A>G
n.82+371T>C
 gnomAD v4
9g.127825829T>GCA374983741ENGc.9A>C (p.Glu3Asp)
c.555A>C (p.Glu185Asp)
n.455A>C
n.82+371T>G
9g.127825830T>ACA374983742ENGc.8A>T (p.Glu3Val)
c.554A>T (p.Glu185Val)
n.454A>T
n.82+372T>A
9g.127825830T>CCA374983743ENGc.8A>G (p.Glu3Gly)
c.554A>G (p.Glu185Gly)
n.454A>G
n.82+372T>C
9g.127825830T>GCA374983744ENGc.8A>C (p.Glu3Ala)
c.554A>C (p.Glu185Ala)
n.454A>C
n.82+372T>G
9g.127825831C>ACA374983747ENGc.7G>T (p.Glu3Ter)
c.553G>T (p.Glu185Ter)
n.453G>T
n.82+373C>A
 gnomAD v4
9g.127825831C>GCA374983746ENGc.7G>C (p.Glu3Gln)
c.553G>C (p.Glu185Gln)
n.453G>C
n.82+373C>G
9g.127825831C>TCA374983745ENGc.7G>A (p.Glu3Lys)
c.553G>A (p.Glu185Lys)
n.453G>A
n.82+373C>T
9g.127825832delCA2691810104ENGc.7del (p.Glu3LysfsTer?)
c.553del (p.Glu185LysfsTer?)
n.453del
n.82+374del
 gnomAD v4
9g.127825832C>ACA467231384ENGc.6G>T (p.Leu2=)
c.552G>T (p.Leu184=)
n.452G>T
n.82+374C>A
 gnomAD v4
9g.127825832C>GCA467231386ENGc.6G>C (p.Leu2=)
c.552G>C (p.Leu184=)
n.452G>C
n.82+374C>G
9g.127825832C>TCA467231387ENGc.6G>A (p.Leu2=)
c.552G>A (p.Leu184=)
n.452G>A
n.82+374C>T
 gnomAD v4
9g.127825833A=CA1879976395ENGc.5T= (p.Leu2=)
c.551T= (p.Leu184=)
n.451T=
n.82+375A=
9g.127825833A>CCA374983748ENGc.5T>G (p.Leu2Arg)
c.551T>G (p.Leu184Arg)
n.451T>G
n.82+375A>C
 dbSNP
9g.127825833A>GCA374983749ENGc.5T>C (p.Leu2Pro)
c.551T>C (p.Leu184Pro)
n.451T>C
n.82+375A>G
 dbSNP gnomAD v3 gnomAD v4
9g.127825833A>TCA374983750ENGc.5T>A (p.Leu2Gln)
c.551T>A (p.Leu184Gln)
n.451T>A
n.82+375A>T
 gnomAD v4
9g.127825834G>ACA467231389ENGc.4C>T (p.Leu2=)
c.550C>T (p.Leu184=)
n.450C>T
n.82+376G>A
 gnomAD v4
9g.127825834G>CCA374983751ENGc.4C>G (p.Leu2Val)
c.550C>G (p.Leu184Val)
n.450C>G
n.82+376G>C
9g.127825834G>TCA374983752ENGc.4C>A (p.Leu2Met)
c.550C>A (p.Leu184Met)
n.450C>A
n.82+376G>T
 gnomAD v4
9g.127825835C>ACA374983753ENGc.3G>T (p.Met1Ile)
c.549G>T (p.Met183Ile)
n.449G>T
n.82+377C>A
 gnomAD v4
9g.127825835C=CA1879976397ENGc.3G= (p.Met1=)
c.549G= (p.Met183=)
n.449G=
n.82+377C=
9g.127825835C>GCA374983754ENGc.3G>C (p.Met1Ile)
c.549G>C (p.Met183Ile)
n.449G>C
n.82+377C>G
9g.127825835C>TCA374983755ENGc.3G>A (p.Met1Ile)
c.549G>A (p.Met183Ile)
n.449G>A
n.82+377C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127825836A>CCA374983756ENGc.2T>G (p.Met1Arg)
c.548T>G (p.Met183Arg)
n.448T>G
n.82+378A>C
 gnomAD v4
9g.127825836A>GCA374983757ENGc.2T>C (p.Met1Thr)
c.548T>C (p.Met183Thr)
n.448T>C
n.82+378A>G
9g.127825836A>TCA374983758ENGc.2T>A (p.Met1Lys)
c.548T>A (p.Met183Lys)
n.448T>A
n.82+378A>T
9g.127825837T>ACA374983761ENGc.1A>T (p.Met1Leu)
c.547A>T (p.Met183Leu)
n.447A>T
n.82+379T>A
9g.127825837T>CCA374983760ENGc.1A>G (p.Met1Val)
c.547A>G (p.Met183Val)
n.447A>G
n.82+379T>C
 ClinVar dbSNP gnomAD v4
9g.127825837T>GCA374983759ENGc.1A>C (p.Met1Leu)
c.547A>C (p.Met183Leu)
n.447A>C
n.82+379T>G
9g.127825837T=CA1879976403ENGc.1A= (p.Met1=)
c.547A= (p.Met183=)
n.447A=
n.82+379T=
9g.127825838G>ACA467231394ENGc.-1C>T (n.-1C>T)
c.546C>T (p.Cys182=)
n.446C>T
n.82+380G>A
 gnomAD v4
9g.127825838G>CCA374983762ENGc.-1C>G (n.-1C>G)
c.546C>G (p.Cys182Trp)
n.446C>G
n.82+380G>C
9g.127825838G>TCA374983763ENGc.-1C>A (n.-1C>A)
c.546C>A (p.Cys182Ter)
n.446C>A
n.82+380G>T
 gnomAD v4
9g.127825839C>ACA374983764ENGc.-2G>T (n.-2G>T)
c.545G>T (p.Cys182Phe)
n.445G>T
n.82+381C>A
9g.127825839C=CA1879976413ENGc.-2G= (n.-2G=)
c.545G= (p.Cys182=)
n.445G=
n.82+381C=
9g.127825839C>GCA374983765ENGc.-2G>C (n.-2G>C)
c.545G>C (p.Cys182Ser)
n.445G>C
n.82+381C>G
 gnomAD v4
9g.127825839C>TCA374983766ENGc.-2G>A (n.-2G>A)
c.545G>A (p.Cys182Tyr)
n.445G>A
n.82+381C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127825839_127825842delinsCAGACA1879976410ENGc.-5_-2delinsTCTG (n.-5_-2delinsTCTG)
c.542_545delinsTCTG (p.Phe181=)
n.442_445delinsTCTG
n.82+381_82+384delinsCAGA
9g.127825840A>CCA374983769ENGc.-3T>G (n.-3T>G)
c.544T>G (p.Cys182Gly)
n.444T>G
n.82+382A>C
9g.127825840A>GCA374983768ENGc.-3T>C (n.-3T>C)
c.544T>C (p.Cys182Arg)
n.444T>C
n.82+382A>G
 gnomAD v4
9g.127825840A>TCA374983767ENGc.-3T>A (n.-3T>A)
c.544T>A (p.Cys182Ser)
n.444T>A
n.82+382A>T
 gnomAD v4
9g.127825842_127825844delCA590939477ENGc.-5_-3del (n.-5_-3del)
c.542_544del (p.Phe181del)
n.442_444del
n.82+384_82+386del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127825841G>ACA5253090ENGc.-4C>T (n.-4C>T)
c.543C>T (p.Phe181=)
n.443C>T
n.82+383G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825841G>CCA374983770ENGc.-4C>G (n.-4C>G)
c.543C>G (p.Phe181Leu)
n.443C>G
n.82+383G>C
9g.127825841G=CA1879976420ENGc.-4C= (n.-4C=)
c.543C= (p.Phe181=)
n.443C=
n.82+383G=
9g.127825841G>TCA374983771ENGc.-4C>A (n.-4C>A)
c.543C>A (p.Phe181Leu)
n.443C>A
n.82+383G>T
 gnomAD v4
9g.127825842A>CCA374983772ENGc.-5T>G (n.-5T>G)
c.542T>G (p.Phe181Cys)
n.442T>G
n.82+384A>C
9g.127825842A>GCA374983773ENGc.-5T>C (n.-5T>C)
c.542T>C (p.Phe181Ser)
n.442T>C
n.82+384A>G
 gnomAD v4
9g.127825842A>TCA374983774ENGc.-5T>A (n.-5T>A)
c.542T>A (p.Phe181Tyr)
n.442T>A
n.82+384A>T
9g.127825843A>CCA374983775ENGc.-6T>G (n.-6T>G)
c.541T>G (p.Phe181Val)
n.441T>G
n.82+385A>C
9g.127825843A>GCA374983777ENGc.-6T>C (n.-6T>C)
c.541T>C (p.Phe181Leu)
n.441T>C
n.82+385A>G
9g.127825843A>TCA374983776ENGc.-6T>A (n.-6T>A)
c.541T>A (p.Phe181Ile)
n.441T>A
n.82+385A>T
 gnomAD v4
9g.127825844G>ACA467231398ENGc.-7C>T (n.-7C>T)
c.540C>T (p.Ser180=)
n.440C>T
n.82+386G>A
 gnomAD v4 COSMIC COSMIC
9g.127825844G>CCA467231399ENGc.-7C>G (n.-7C>G)
c.540C>G (p.Ser180=)
n.440C>G
n.82+386G>C
9g.127825844G>TCA467231402ENGc.-7C>A (n.-7C>A)
c.540C>A (p.Ser180=)
n.440C>A
n.82+386G>T
 gnomAD v4
9g.127825845G>ACA5253091ENGc.-8C>T (n.-8C>T)
c.539C>T (p.Ser180Phe)
n.439C>T
n.82+387G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127825845G>CCA374983778ENGc.-8C>G (n.-8C>G)
c.539C>G (p.Ser180Cys)
n.439C>G
n.82+387G>C
9g.127825845G=CA1879976425ENGc.-8C= (n.-8C=)
c.539C= (p.Ser180=)
n.439C=
n.82+387G=
9g.127825845G>TCA374983779ENGc.-8C>A (n.-8C>A)
c.539C>A (p.Ser180Tyr)
n.439C>A
n.82+387G>T
 gnomAD v4
9g.127825846A>CCA374983780ENGc.-9T>G (n.-9T>G)
c.538T>G (p.Ser180Ala)
n.438T>G
n.82+388A>C
9g.127825846A>GCA374983781ENGc.-9T>C (n.-9T>C)
c.538T>C (p.Ser180Pro)
n.438T>C
n.82+388A>G
 gnomAD v4
9g.127825846A>TCA374983782ENGc.-9T>A (n.-9T>A)
c.538T>A (p.Ser180Thr)
n.438T>A
n.82+388A>T
 gnomAD v4
9g.127825847_127825848delCA2695211320ENGc.-10_-9del (n.-10_-9del)
c.537_538del (p.Ser180LeufsTer?)
n.437_438del
n.82+389_82+390del
9g.127825847C>ACA467231405ENGc.-10G>T (n.-10G>T)
c.537G>T (p.Leu179=)
n.437G>T
n.82+389C>A
 gnomAD v4
9g.127825847C>GCA467231406ENGc.-10G>C (n.-10G>C)
c.537G>C (p.Leu179=)
n.437G>C
n.82+389C>G
9g.127825847C>TCA467231408ENGc.-10G>A (n.-10G>A)
c.537G>A (p.Leu179=)
n.437G>A
n.82+389C>T
 gnomAD v4
9g.127825847_127825850delinsCAGTCA1879976432ENGc.-13_-10delinsACTG (n.-13_-10delinsACTG)
c.534_537delinsACTG (p.Ser178=)
n.434_437delinsACTG
n.82+389_82+392delinsCAGT
9g.127825848A>CCA374983783ENGc.-11T>G (n.-11T>G)
c.536T>G (p.Leu179Arg)
n.436T>G
n.82+390A>C
9g.127825848A>GCA374983784ENGc.-11T>C (n.-11T>C)
c.536T>C (p.Leu179Pro)
n.436T>C
n.82+390A>G
 ClinVar
9g.127825848A>TCA374983785ENGc.-11T>A (n.-11T>A)
c.536T>A (p.Leu179Gln)
n.436T>A
n.82+390A>T
9g.127825848_127825850delCA860198098ENGc.-13_-11del (n.-13_-11del)
c.534_536del (p.Leu179del)
n.434_436del
n.82+390_82+392del
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.127825849G>ACA467231410ENGc.-12C>T (n.-12C>T)
c.535C>T (p.Leu179=)
n.435C>T
n.82+391G>A
 gnomAD v4
9g.127825849G>CCA374983786ENGc.-12C>G (n.-12C>G)
c.535C>G (p.Leu179Val)
n.435C>G
n.82+391G>C
9g.127825849G>TCA374983787ENGc.-12C>A (n.-12C>A)
c.535C>A (p.Leu179Met)
n.435C>A
n.82+391G>T
 gnomAD v4
9g.127825850T>ACA467231411ENGc.-13A>T (n.-13A>T)
c.534A>T (p.Ser178=)
n.434A>T
n.82+392T>A
 gnomAD v4
9g.127825850T>CCA467231413ENGc.-13A>G (n.-13A>G)
c.534A>G (p.Ser178=)
n.434A>G
n.82+392T>C
9g.127825850T>GCA467231414ENGc.-13A>C (n.-13A>C)
c.534A>C (p.Ser178=)
n.434A>C
n.82+392T>G
9g.127825851G>ACA374983789ENGc.-14C>T (n.-14C>T)
c.533C>T (p.Ser178Leu)
n.433C>T
n.82+393G>A
 gnomAD v4
9g.127825851G>CCA374983790ENGc.-14C>G (n.-14C>G)
c.533C>G (p.Ser178Ter)
n.433C>G
n.82+393G>C
9g.127825851G>TCA374983788ENGc.-14C>A (n.-14C>A)
c.533C>A (p.Ser178Ter)
n.433C>A
n.82+393G>T
 gnomAD v4
9g.127825852A>CCA374983792ENGc.-15T>G (n.-15T>G)
c.532T>G (p.Ser178Ala)
n.432T>G
n.82+394A>C
9g.127825852A>GCA374983791ENGc.-15T>C (n.-15T>C)
c.532T>C (p.Ser178Pro)
n.432T>C
n.82+394A>G
9g.127825852A>TCA374983793ENGc.-15T>A (n.-15T>A)
c.532T>A (p.Ser178Thr)
n.432T>A
n.82+394A>T
9g.127825853C>ACA467231419ENGc.-16G>T (n.-16G>T)
c.531G>T (p.Gly177=)
n.431G>T
n.82+395C>A
 gnomAD v4
9g.127825853C=CA1879976440ENGc.-16G= (n.-16G=)
c.531G= (p.Gly177=)
n.431G=
n.82+395C=
9g.127825853C>GCA467231421ENGc.-16G>C (n.-16G>C)
c.531G>C (p.Gly177=)
n.431G>C
n.82+395C>G
9g.127825853C>TCA467231420ENGc.-16G>A (n.-16G>A)
c.531G>A (p.Gly177=)
n.431G>A
n.82+395C>T
 dbSNP gnomAD v2 gnomAD v4
9g.127825856delCA2691810185ENGc.-16del (n.-16del)
c.531del (p.Ser178HisfsTer?)
n.431del
n.82+398del
 gnomAD v4
9g.127825854C>ACA374983794ENGc.-17G>T (n.-17G>T)
c.530G>T (p.Gly177Val)
n.430G>T
n.82+396C>A
 gnomAD v4
9g.127825854C=CA1879976443ENGc.-17G= (n.-17G=)
c.530G= (p.Gly177=)
n.430G=
n.82+396C=
9g.127825854C>GCA374983796ENGc.-17G>C (n.-17G>C)
c.530G>C (p.Gly177Ala)
n.430G>C
n.82+396C>G
 gnomAD v4
9g.127825854C>TCA374983795ENGc.-17G>A (n.-17G>A)
c.530G>A (p.Gly177Glu)
n.430G>A
n.82+396C>T
 ClinVar dbSNP
9g.127825855C>ACA374983797ENGc.-18G>T (n.-18G>T)
c.529G>T (p.Gly177Trp)
n.429G>T
n.82+397C>A
 gnomAD v4
9g.127825855C>GCA374983799ENGc.-18G>C (n.-18G>C)
c.529G>C (p.Gly177Arg)
n.429G>C
n.82+397C>G
9g.127825855C>TCA374983798ENGc.-18G>A (n.-18G>A)
c.529G>A (p.Gly177Arg)
n.429G>A
n.82+397C>T

Number of alleles fetched