Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.20348552T>ACA394984755UMODc.749A>T (p.His250Leu)
c.848A>T (p.His283Leu)
c.896A>T (p.His299Leu)
c.833A>T (p.His278Leu)
n.974A>T
16g.20348552T>CCA394984757UMODc.749A>G (p.His250Arg)
c.848A>G (p.His283Arg)
c.896A>G (p.His299Arg)
c.833A>G (p.His278Arg)
n.974A>G
16g.20348552T>GCA394984769UMODc.749A>C (p.His250Pro)
c.848A>C (p.His283Pro)
c.896A>C (p.His299Pro)
c.833A>C (p.His278Pro)
n.974A>C
16g.20348553G>ACA394984773UMODc.748C>T (p.His250Tyr)
c.847C>T (p.His283Tyr)
c.895C>T (p.His299Tyr)
c.832C>T (p.His278Tyr)
n.973C>T
16g.20348553G>CCA394984775UMODc.748C>G (p.His250Asp)
c.847C>G (p.His283Asp)
c.895C>G (p.His299Asp)
c.832C>G (p.His278Asp)
n.973C>G
16g.20348553G>TCA394984779UMODc.748C>A (p.His250Asn)
c.847C>A (p.His283Asn)
c.895C>A (p.His299Asn)
c.832C>A (p.His278Asn)
n.973C>A
 gnomAD v4
16g.20348554C>ACA494097156UMODc.747G>T (p.Ala249=)
c.846G>T (p.Ala282=)
c.894G>T (p.Ala298=)
c.831G>T (p.Ala277=)
n.972G>T
 dbSNP gnomAD v4
16g.20348554C=CA2211942094UMODc.747G= (p.Ala249=)
c.846G= (p.Ala282=)
c.894G= (p.Ala298=)
c.831G= (p.Ala277=)
n.972G=
16g.20348554C>GCA494097157UMODc.747G>C (p.Ala249=)
c.846G>C (p.Ala282=)
c.894G>C (p.Ala298=)
c.831G>C (p.Ala277=)
n.972G>C
16g.20348554C>TCA494097158UMODc.747G>A (p.Ala249=)
c.846G>A (p.Ala282=)
c.894G>A (p.Ala298=)
c.831G>A (p.Ala277=)
n.972G>A
 gnomAD v4 COSMIC COSMIC
16g.20348555G>ACA7939412UMODc.746C>T (p.Ala249Val)
c.845C>T (p.Ala282Val)
c.893C>T (p.Ala298Val)
c.830C>T (p.Ala277Val)
n.971C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.20348555G>CCA394984782UMODc.746C>G (p.Ala249Gly)
c.845C>G (p.Ala282Gly)
c.893C>G (p.Ala298Gly)
c.830C>G (p.Ala277Gly)
n.971C>G
16g.20348555G=CA2211942099UMODc.746C= (p.Ala249=)
c.845C= (p.Ala282=)
c.893C= (p.Ala298=)
c.830C= (p.Ala277=)
n.971C=
16g.20348555G>TCA394984784UMODc.746C>A (p.Ala249Glu)
c.845C>A (p.Ala282Glu)
c.893C>A (p.Ala298Glu)
c.830C>A (p.Ala277Glu)
n.971C>A
 gnomAD v4
16g.20348556C>ACA394984789UMODc.745G>T (p.Ala249Ser)
c.844G>T (p.Ala282Ser)
c.892G>T (p.Ala298Ser)
c.829G>T (p.Ala277Ser)
n.970G>T
 dbSNP gnomAD v3 gnomAD v4
16g.20348556C=CA2211942103UMODc.745G= (p.Ala249=)
c.844G= (p.Ala282=)
c.892G= (p.Ala298=)
c.829G= (p.Ala277=)
n.970G=
16g.20348556C>GCA394984794UMODc.745G>C (p.Ala249Pro)
c.844G>C (p.Ala282Pro)
c.892G>C (p.Ala298Pro)
c.829G>C (p.Ala277Pro)
n.970G>C
16g.20348556C>TCA394984787UMODc.745G>A (p.Ala249Thr)
c.844G>A (p.Ala282Thr)
c.892G>A (p.Ala298Thr)
c.829G>A (p.Ala277Thr)
n.970G>A
 gnomAD v4
16g.20348557G>ACA494097161UMODc.744C>T (p.Cys248=)
c.843C>T (p.Cys281=)
c.891C>T (p.Cys297=)
c.828C>T (p.Cys276=)
n.969C>T
 dbSNP gnomAD v4
16g.20348557G>CCA10605900UMODc.744C>G (p.Cys248Trp)
c.843C>G (p.Cys281Trp)
c.891C>G (p.Cys297Trp)
c.828C>G (p.Cys276Trp)
n.969C>G
 ClinVar dbSNP
16g.20348557G=CA2211942116UMODc.744C= (p.Cys248=)
c.843C= (p.Cys281=)
c.891C= (p.Cys297=)
c.828C= (p.Cys276=)
n.969C=
16g.20348557G>TCA394984801UMODc.744C>A (p.Cys248Ter)
c.843C>A (p.Cys281Ter)
c.891C>A (p.Cys297Ter)
c.828C>A (p.Cys276Ter)
n.969C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348558C>ACA394984803UMODc.743G>T (p.Cys248Phe)
c.842G>T (p.Cys281Phe)
c.890G>T (p.Cys297Phe)
c.827G>T (p.Cys276Phe)
n.968G>T
 gnomAD v4
16g.20348558C=CA2211942131UMODc.743G= (p.Cys248=)
c.842G= (p.Cys281=)
c.890G= (p.Cys297=)
c.827G= (p.Cys276=)
n.968G=
16g.20348558C>GCA264233UMODc.743G>C (p.Cys248Ser)
c.842G>C (p.Cys281Ser)
c.890G>C (p.Cys297Ser)
c.827G>C (p.Cys276Ser)
n.968G>C
 ClinVar dbSNP
16g.20348558C>TCA394984809UMODc.743G>A (p.Cys248Tyr)
c.842G>A (p.Cys281Tyr)
c.890G>A (p.Cys297Tyr)
c.827G>A (p.Cys276Tyr)
n.968G>A
 gnomAD v4
16g.20348559A=CA2211942136UMODc.742T= (p.Cys248=)
c.841T= (p.Cys281=)
c.889T= (p.Cys297=)
c.826T= (p.Cys276=)
n.967T=
16g.20348559A>CCA394984810UMODc.742T>G (p.Cys248Gly)
c.841T>G (p.Cys281Gly)
c.889T>G (p.Cys297Gly)
c.826T>G (p.Cys276Gly)
n.967T>G
16g.20348559A>GCA394984811UMODc.742T>C (p.Cys248Arg)
c.841T>C (p.Cys281Arg)
c.889T>C (p.Cys297Arg)
c.826T>C (p.Cys276Arg)
n.967T>C
 ClinVar dbSNP gnomAD v4
16g.20348559A>TCA394984812UMODc.742T>A (p.Cys248Ser)
c.841T>A (p.Cys281Ser)
c.889T>A (p.Cys297Ser)
c.826T>A (p.Cys276Ser)
n.967T>A
16g.20348560G>ACA494097164UMODc.741C>T (p.Ala247=)
c.840C>T (p.Ala280=)
c.888C>T (p.Ala296=)
c.825C>T (p.Ala275=)
n.966C>T
16g.20348560G>CCA494097165UMODc.741C>G (p.Ala247=)
c.840C>G (p.Ala280=)
c.888C>G (p.Ala296=)
c.825C>G (p.Ala275=)
n.966C>G
 ClinVar
16g.20348560G>TCA494097166UMODc.741C>A (p.Ala247=)
c.840C>A (p.Ala280=)
c.888C>A (p.Ala296=)
c.825C>A (p.Ala275=)
n.966C>A
 gnomAD v4
16g.20348561G>ACA394984813UMODc.740C>T (p.Ala247Val)
c.839C>T (p.Ala280Val)
c.887C>T (p.Ala296Val)
c.824C>T (p.Ala275Val)
n.965C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348561G>CCA394984814UMODc.740C>G (p.Ala247Gly)
c.839C>G (p.Ala280Gly)
c.887C>G (p.Ala296Gly)
c.824C>G (p.Ala275Gly)
n.965C>G
16g.20348561G=CA2211942139UMODc.740C= (p.Ala247=)
c.839C= (p.Ala280=)
c.887C= (p.Ala296=)
c.824C= (p.Ala275=)
n.965C=
16g.20348561G>TCA394984815UMODc.740C>A (p.Ala247Asp)
c.839C>A (p.Ala280Asp)
c.887C>A (p.Ala296Asp)
c.824C>A (p.Ala275Asp)
n.965C>A
 gnomAD v4
16g.20348562C>ACA394984817UMODc.739G>T (p.Ala247Ser)
c.838G>T (p.Ala280Ser)
c.886G>T (p.Ala296Ser)
c.823G>T (p.Ala275Ser)
n.964G>T
 gnomAD v4
16g.20348562C>GCA394984820UMODc.739G>C (p.Ala247Pro)
c.838G>C (p.Ala280Pro)
c.886G>C (p.Ala296Pro)
c.823G>C (p.Ala275Pro)
n.964G>C
16g.20348562C>TCA394984821UMODc.739G>A (p.Ala247Thr)
c.838G>A (p.Ala280Thr)
c.886G>A (p.Ala296Thr)
c.823G>A (p.Ala275Thr)
n.964G>A
 gnomAD v4
16g.20348563C>ACA394984828UMODc.738G>T (p.Lys246Asn)
c.837G>T (p.Lys279Asn)
c.885G>T (p.Lys295Asn)
c.822G>T (p.Lys274Asn)
n.963G>T
16g.20348563C>GCA394984826UMODc.738G>C (p.Lys246Asn)
c.837G>C (p.Lys279Asn)
c.885G>C (p.Lys295Asn)
c.822G>C (p.Lys274Asn)
n.963G>C
16g.20348563C>TCA494097174UMODc.738G>A (p.Lys246=)
c.837G>A (p.Lys279=)
c.885G>A (p.Lys295=)
c.822G>A (p.Lys274=)
n.963G>A
 gnomAD v4
16g.20348564T>ACA394984833UMODc.737A>T (p.Lys246Met)
c.836A>T (p.Lys279Met)
c.884A>T (p.Lys295Met)
c.821A>T (p.Lys274Met)
n.962A>T
16g.20348564T>CCA394984837UMODc.737A>G (p.Lys246Arg)
c.836A>G (p.Lys279Arg)
c.884A>G (p.Lys295Arg)
c.821A>G (p.Lys274Arg)
n.962A>G
 dbSNP gnomAD v2 gnomAD v4
16g.20348564T>GCA394984839UMODc.737A>C (p.Lys246Thr)
c.836A>C (p.Lys279Thr)
c.884A>C (p.Lys295Thr)
c.821A>C (p.Lys274Thr)
n.962A>C
16g.20348564T=CA2211942142UMODc.737A= (p.Lys246=)
c.836A= (p.Lys279=)
c.884A= (p.Lys295=)
c.821A= (p.Lys274=)
n.962A=
16g.20348565T>ACA394984841UMODc.736A>T (p.Lys246Ter)
c.835A>T (p.Lys279Ter)
c.883A>T (p.Lys295Ter)
c.820A>T (p.Lys274Ter)
n.961A>T
16g.20348565T>CCA394984844UMODc.736A>G (p.Lys246Glu)
c.835A>G (p.Lys279Glu)
c.883A>G (p.Lys295Glu)
c.820A>G (p.Lys274Glu)
n.961A>G
 gnomAD v4
16g.20348565T>GCA394984846UMODc.736A>C (p.Lys246Gln)
c.835A>C (p.Lys279Gln)
c.883A>C (p.Lys295Gln)
c.820A>C (p.Lys274Gln)
n.961A>C
16g.20348568_20348579delCA2580090849UMODc.725_736del (p.Ile242_Arg245del)
c.824_835del (p.Ile275_Arg278del)
c.872_883del (p.Ile291_Arg294del)
c.809_820del (p.Ile270_Arg273del)
n.950_961del
 ClinVar
16g.20348566G>ACA494097180UMODc.735C>T (p.Arg245=)
c.834C>T (p.Arg278=)
c.882C>T (p.Arg294=)
c.819C>T (p.Arg273=)
n.960C>T
 gnomAD v4
16g.20348566G>CCA494097181UMODc.735C>G (p.Arg245=)
c.834C>G (p.Arg278=)
c.882C>G (p.Arg294=)
c.819C>G (p.Arg273=)
n.960C>G
16g.20348566G>TCA494097183UMODc.735C>A (p.Arg245=)
c.834C>A (p.Arg278=)
c.882C>A (p.Arg294=)
c.819C>A (p.Arg273=)
n.960C>A
 gnomAD v4
16g.20348567C>ACA394984851UMODc.734G>T (p.Arg245Leu)
c.833G>T (p.Arg278Leu)
c.881G>T (p.Arg294Leu)
c.818G>T (p.Arg273Leu)
n.959G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348567C=CA2211942146UMODc.734G= (p.Arg245=)
c.833G= (p.Arg278=)
c.881G= (p.Arg294=)
c.818G= (p.Arg273=)
n.959G=
16g.20348567C>GCA394984849UMODc.734G>C (p.Arg245Pro)
c.833G>C (p.Arg278Pro)
c.881G>C (p.Arg294Pro)
c.818G>C (p.Arg273Pro)
n.959G>C
16g.20348567C>TCA7939413UMODc.734G>A (p.Arg245His)
c.833G>A (p.Arg278His)
c.881G>A (p.Arg294His)
c.818G>A (p.Arg273His)
n.959G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348568G>ACA394984855UMODc.733C>T (p.Arg245Cys)
c.832C>T (p.Arg278Cys)
c.880C>T (p.Arg294Cys)
c.817C>T (p.Arg273Cys)
n.958C>T
 dbSNP gnomAD v2
16g.20348568G>CCA394984866UMODc.733C>G (p.Arg245Gly)
c.832C>G (p.Arg278Gly)
c.880C>G (p.Arg294Gly)
c.817C>G (p.Arg273Gly)
n.958C>G
16g.20348568G=CA2211942149UMODc.733C= (p.Arg245=)
c.832C= (p.Arg278=)
c.880C= (p.Arg294=)
c.817C= (p.Arg273=)
n.958C=
16g.20348568G>TCA394984867UMODc.733C>A (p.Arg245Ser)
c.832C>A (p.Arg278Ser)
c.880C>A (p.Arg294Ser)
c.817C>A (p.Arg273Ser)
n.958C>A
 gnomAD v4
16g.20348569G>ACA494097186UMODc.732C>T (p.Ser244=)
c.831C>T (p.Ser277=)
c.879C>T (p.Ser293=)
c.816C>T (p.Ser272=)
n.957C>T
 gnomAD v4
16g.20348569G>CCA394984871UMODc.732C>G (p.Ser244Arg)
c.831C>G (p.Ser277Arg)
c.879C>G (p.Ser293Arg)
c.816C>G (p.Ser272Arg)
n.957C>G
 dbSNP gnomAD v3 gnomAD v4
16g.20348569G=CA2211942152UMODc.732C= (p.Ser244=)
c.831C= (p.Ser277=)
c.879C= (p.Ser293=)
c.816C= (p.Ser272=)
n.957C=
16g.20348569G>TCA394984873UMODc.732C>A (p.Ser244Arg)
c.831C>A (p.Ser277Arg)
c.879C>A (p.Ser293Arg)
c.816C>A (p.Ser272Arg)
n.957C>A
 gnomAD v4
16g.20348570C>ACA394984876UMODc.731G>T (p.Ser244Ile)
c.830G>T (p.Ser277Ile)
c.878G>T (p.Ser293Ile)
c.815G>T (p.Ser272Ile)
n.956G>T
 gnomAD v4
16g.20348570C>GCA394984875UMODc.731G>C (p.Ser244Thr)
c.830G>C (p.Ser277Thr)
c.878G>C (p.Ser293Thr)
c.815G>C (p.Ser272Thr)
n.956G>C
16g.20348570C>TCA394984874UMODc.731G>A (p.Ser244Asn)
c.830G>A (p.Ser277Asn)
c.878G>A (p.Ser293Asn)
c.815G>A (p.Ser272Asn)
n.956G>A
 gnomAD v4
16g.20348571T>ACA394984877UMODc.730A>T (p.Ser244Cys)
c.829A>T (p.Ser277Cys)
c.877A>T (p.Ser293Cys)
c.814A>T (p.Ser272Cys)
n.955A>T
16g.20348571T>CCA394984880UMODc.730A>G (p.Ser244Gly)
c.829A>G (p.Ser277Gly)
c.877A>G (p.Ser293Gly)
c.814A>G (p.Ser272Gly)
n.955A>G
16g.20348571T>GCA394984878UMODc.730A>C (p.Ser244Arg)
c.829A>C (p.Ser277Arg)
c.877A>C (p.Ser293Arg)
c.814A>C (p.Ser272Arg)
n.955A>C
16g.20348572C>ACA494097192UMODc.729G>T (p.Val243=)
c.828G>T (p.Val276=)
c.876G>T (p.Val292=)
c.813G>T (p.Val271=)
n.954G>T
 gnomAD v4
16g.20348572C=CA2211942156UMODc.729G= (p.Val243=)
c.828G= (p.Val276=)
c.876G= (p.Val292=)
c.813G= (p.Val271=)
n.954G=
16g.20348572C>GCA494097190UMODc.729G>C (p.Val243=)
c.828G>C (p.Val276=)
c.876G>C (p.Val292=)
c.813G>C (p.Val271=)
n.954G>C
16g.20348572C>TCA494097189UMODc.729G>A (p.Val243=)
c.828G>A (p.Val276=)
c.876G>A (p.Val292=)
c.813G>A (p.Val271=)
n.954G>A
 dbSNP gnomAD v2
16g.20348573A>CCA394984882UMODc.728T>G (p.Val243Gly)
c.827T>G (p.Val276Gly)
c.875T>G (p.Val292Gly)
c.812T>G (p.Val271Gly)
n.953T>G
16g.20348573A>GCA394984886UMODc.728T>C (p.Val243Ala)
c.827T>C (p.Val276Ala)
c.875T>C (p.Val292Ala)
c.812T>C (p.Val271Ala)
n.953T>C
16g.20348573A>TCA394984883UMODc.728T>A (p.Val243Glu)
c.827T>A (p.Val276Glu)
c.875T>A (p.Val292Glu)
c.812T>A (p.Val271Glu)
n.953T>A
16g.20348574C>ACA394984888UMODc.727G>T (p.Val243Leu)
c.826G>T (p.Val276Leu)
c.874G>T (p.Val292Leu)
c.811G>T (p.Val271Leu)
n.952G>T
 gnomAD v4
16g.20348574C=CA2211942163UMODc.727G= (p.Val243=)
c.826G= (p.Val276=)
c.874G= (p.Val292=)
c.811G= (p.Val271=)
n.952G=
16g.20348574C>GCA394984898UMODc.727G>C (p.Val243Leu)
c.826G>C (p.Val276Leu)
c.874G>C (p.Val292Leu)
c.811G>C (p.Val271Leu)
n.952G>C
16g.20348574C>TCA394984891UMODc.727G>A (p.Val243Met)
c.826G>A (p.Val276Met)
c.874G>A (p.Val292Met)
c.811G>A (p.Val271Met)
n.952G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20348575G>ACA279299684UMODc.726C>T (p.Ile242=)
c.825C>T (p.Ile275=)
c.873C>T (p.Ile291=)
c.810C>T (p.Ile270=)
n.951C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348575G>CCA394984900UMODc.726C>G (p.Ile242Met)
c.825C>G (p.Ile275Met)
c.873C>G (p.Ile291Met)
c.810C>G (p.Ile270Met)
n.951C>G
16g.20348575G=CA2211942167UMODc.726C= (p.Ile242=)
c.825C= (p.Ile275=)
c.873C= (p.Ile291=)
c.810C= (p.Ile270=)
n.951C=
16g.20348575G>TCA494097197UMODc.726C>A (p.Ile242=)
c.825C>A (p.Ile275=)
c.873C>A (p.Ile291=)
c.810C>A (p.Ile270=)
n.951C>A
 gnomAD v4
16g.20348576A>CCA394984907UMODc.725T>G (p.Ile242Ser)
c.824T>G (p.Ile275Ser)
c.872T>G (p.Ile291Ser)
c.809T>G (p.Ile270Ser)
n.950T>G
16g.20348576A>GCA394984903UMODc.725T>C (p.Ile242Thr)
c.824T>C (p.Ile275Thr)
c.872T>C (p.Ile291Thr)
c.809T>C (p.Ile270Thr)
n.950T>C
16g.20348576A>TCA394984905UMODc.725T>A (p.Ile242Asn)
c.824T>A (p.Ile275Asn)
c.872T>A (p.Ile291Asn)
c.809T>A (p.Ile270Asn)
n.950T>A
 ClinVar
16g.20348577T>ACA394984908UMODc.724A>T (p.Ile242Phe)
c.823A>T (p.Ile275Phe)
c.871A>T (p.Ile291Phe)
c.808A>T (p.Ile270Phe)
n.949A>T
16g.20348577T>CCA394984909UMODc.724A>G (p.Ile242Val)
c.823A>G (p.Ile275Val)
c.871A>G (p.Ile291Val)
c.808A>G (p.Ile270Val)
n.949A>G
16g.20348577T>GCA394984910UMODc.724A>C (p.Ile242Leu)
c.823A>C (p.Ile275Leu)
c.871A>C (p.Ile291Leu)
c.808A>C (p.Ile270Leu)
n.949A>C
16g.20348578G>ACA494097201UMODc.723C>T (p.Gly241=)
c.822C>T (p.Gly274=)
c.870C>T (p.Gly290=)
c.807C>T (p.Gly269=)
n.948C>T
 gnomAD v4
16g.20348578G>CCA494097202UMODc.723C>G (p.Gly241=)
c.822C>G (p.Gly274=)
c.870C>G (p.Gly290=)
c.807C>G (p.Gly269=)
n.948C>G
16g.20348578G>TCA494097203UMODc.723C>A (p.Gly241=)
c.822C>A (p.Gly274=)
c.870C>A (p.Gly290=)
c.807C>A (p.Gly269=)
n.948C>A
 gnomAD v4
16g.20348579C>ACA394984911UMODc.722G>T (p.Gly241Val)
c.821G>T (p.Gly274Val)
c.869G>T (p.Gly290Val)
c.806G>T (p.Gly269Val)
n.947G>T
 gnomAD v4
16g.20348579C>GCA394984912UMODc.722G>C (p.Gly241Ala)
c.821G>C (p.Gly274Ala)
c.869G>C (p.Gly290Ala)
c.806G>C (p.Gly269Ala)
n.947G>C
16g.20348579C>TCA394984914UMODc.722G>A (p.Gly241Asp)
c.821G>A (p.Gly274Asp)
c.869G>A (p.Gly290Asp)
c.806G>A (p.Gly269Asp)
n.947G>A
 gnomAD v4
16g.20348580C>ACA394984916UMODc.721G>T (p.Gly241Cys)
c.820G>T (p.Gly274Cys)
c.868G>T (p.Gly290Cys)
c.805G>T (p.Gly269Cys)
n.946G>T
 gnomAD v4
16g.20348580C=CA2211942174UMODc.721G= (p.Gly241=)
c.820G= (p.Gly274=)
c.868G= (p.Gly290=)
c.805G= (p.Gly269=)
n.946G=
16g.20348580C>GCA394984927UMODc.721G>C (p.Gly241Arg)
c.820G>C (p.Gly274Arg)
c.868G>C (p.Gly290Arg)
c.805G>C (p.Gly269Arg)
n.946G>C
16g.20348580C>TCA394984930UMODc.721G>A (p.Gly241Ser)
c.820G>A (p.Gly274Ser)
c.868G>A (p.Gly290Ser)
c.805G>A (p.Gly269Ser)
n.946G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348581C>ACA394984933UMODc.720G>T (p.Glu240Asp)
c.819G>T (p.Glu273Asp)
c.867G>T (p.Glu289Asp)
c.804G>T (p.Glu268Asp)
n.945G>T
 gnomAD v4
16g.20348581C=CA2211942187UMODc.720G= (p.Glu240=)
c.819G= (p.Glu273=)
c.867G= (p.Glu289=)
c.804G= (p.Glu268=)
n.945G=
16g.20348581C>GCA394984934UMODc.720G>C (p.Glu240Asp)
c.819G>C (p.Glu273Asp)
c.867G>C (p.Glu289Asp)
c.804G>C (p.Glu268Asp)
n.945G>C
16g.20348581C>TCA494097208UMODc.720G>A (p.Glu240=)
c.819G>A (p.Glu273=)
c.867G>A (p.Glu289=)
c.804G>A (p.Glu268=)
n.945G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348582T>ACA394984937UMODc.719A>T (p.Glu240Val)
c.818A>T (p.Glu273Val)
c.866A>T (p.Glu289Val)
c.803A>T (p.Glu268Val)
n.944A>T
16g.20348582T>CCA394984944UMODc.719A>G (p.Glu240Gly)
c.818A>G (p.Glu273Gly)
c.866A>G (p.Glu289Gly)
c.803A>G (p.Glu268Gly)
n.944A>G
 gnomAD v4
16g.20348582T>GCA394984942UMODc.719A>C (p.Glu240Ala)
c.818A>C (p.Glu273Ala)
c.866A>C (p.Glu289Ala)
c.803A>C (p.Glu268Ala)
n.944A>C
16g.20348583C>ACA394984953UMODc.718G>T (p.Glu240Ter)
c.817G>T (p.Glu273Ter)
c.865G>T (p.Glu289Ter)
c.802G>T (p.Glu268Ter)
n.943G>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348583C=CA2211942192UMODc.718G= (p.Glu240=)
c.817G= (p.Glu273=)
c.865G= (p.Glu289=)
c.802G= (p.Glu268=)
n.943G=
16g.20348583C>GCA394984957UMODc.718G>C (p.Glu240Gln)
c.817G>C (p.Glu273Gln)
c.865G>C (p.Glu289Gln)
c.802G>C (p.Glu268Gln)
n.943G>C
 gnomAD v4
16g.20348583C>TCA394984961UMODc.718G>A (p.Glu240Lys)
c.817G>A (p.Glu273Lys)
c.865G>A (p.Glu289Lys)
c.802G>A (p.Glu268Lys)
n.943G>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348584G>ACA494097214UMODc.717C>T (p.Asp239=)
c.816C>T (p.Asp272=)
c.864C>T (p.Asp288=)
c.801C>T (p.Asp267=)
n.942C>T
 dbSNP gnomAD v4
16g.20348584G>CCA394984963UMODc.717C>G (p.Asp239Glu)
c.816C>G (p.Asp272Glu)
c.864C>G (p.Asp288Glu)
c.801C>G (p.Asp267Glu)
n.942C>G
16g.20348584G=CA2211942200UMODc.717C= (p.Asp239=)
c.816C= (p.Asp272=)
c.864C= (p.Asp288=)
c.801C= (p.Asp267=)
n.942C=
16g.20348584G>TCA394984965UMODc.717C>A (p.Asp239Glu)
c.816C>A (p.Asp272Glu)
c.864C>A (p.Asp288Glu)
c.801C>A (p.Asp267Glu)
n.942C>A
 gnomAD v4
16g.20348585T>ACA394984969UMODc.716A>T (p.Asp239Val)
c.815A>T (p.Asp272Val)
c.863A>T (p.Asp288Val)
c.800A>T (p.Asp267Val)
n.941A>T
 gnomAD v4
16g.20348585T>CCA394984970UMODc.716A>G (p.Asp239Gly)
c.815A>G (p.Asp272Gly)
c.863A>G (p.Asp288Gly)
c.800A>G (p.Asp267Gly)
n.941A>G
 gnomAD v4
16g.20348585T>GCA394984973UMODc.716A>C (p.Asp239Ala)
c.815A>C (p.Asp272Ala)
c.863A>C (p.Asp288Ala)
c.800A>C (p.Asp267Ala)
n.941A>C
16g.20348586C>ACA394984975UMODc.715G>T (p.Asp239Tyr)
c.814G>T (p.Asp272Tyr)
c.862G>T (p.Asp288Tyr)
c.799G>T (p.Asp267Tyr)
n.940G>T
 gnomAD v4
16g.20348586C=CA2211942204UMODc.715G= (p.Asp239=)
c.814G= (p.Asp272=)
c.862G= (p.Asp288=)
c.799G= (p.Asp267=)
n.940G=
16g.20348586C>GCA394984977UMODc.715G>C (p.Asp239His)
c.814G>C (p.Asp272His)
c.862G>C (p.Asp288His)
c.799G>C (p.Asp267His)
n.940G>C
16g.20348586C>TCA394984979UMODc.715G>A (p.Asp239Asn)
c.814G>A (p.Asp272Asn)
c.862G>A (p.Asp288Asn)
c.799G>A (p.Asp267Asn)
n.940G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348587G>ACA494097219UMODc.714C>T (p.Ser238=)
c.813C>T (p.Ser271=)
c.861C>T (p.Ser287=)
c.798C>T (p.Ser266=)
n.939C>T
 gnomAD v3 gnomAD v4
16g.20348587G>CCA7939414UMODc.714C>G (p.Ser238Arg)
c.813C>G (p.Ser271Arg)
c.861C>G (p.Ser287Arg)
c.798C>G (p.Ser266Arg)
n.939C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348587G=CA2211942207UMODc.714C= (p.Ser238=)
c.813C= (p.Ser271=)
c.861C= (p.Ser287=)
c.798C= (p.Ser266=)
n.939C=
16g.20348587G>TCA394984985UMODc.714C>A (p.Ser238Arg)
c.813C>A (p.Ser271Arg)
c.861C>A (p.Ser287Arg)
c.798C>A (p.Ser266Arg)
n.939C>A
 gnomAD v4
16g.20348588C>ACA394984989UMODc.713G>T (p.Ser238Ile)
c.812G>T (p.Ser271Ile)
c.860G>T (p.Ser287Ile)
c.797G>T (p.Ser266Ile)
n.938G>T
16g.20348588C=CA2211942213UMODc.713G= (p.Ser238=)
c.812G= (p.Ser271=)
c.860G= (p.Ser287=)
c.797G= (p.Ser266=)
n.938G=
16g.20348588C>GCA7939415UMODc.713G>C (p.Ser238Thr)
c.812G>C (p.Ser271Thr)
c.860G>C (p.Ser287Thr)
c.797G>C (p.Ser266Thr)
n.938G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348588C>TCA394984992UMODc.713G>A (p.Ser238Asn)
c.812G>A (p.Ser271Asn)
c.860G>A (p.Ser287Asn)
c.797G>A (p.Ser266Asn)
n.938G>A
 gnomAD v4
16g.20348589T>ACA394984999UMODc.712A>T (p.Ser238Cys)
c.811A>T (p.Ser271Cys)
c.859A>T (p.Ser287Cys)
c.796A>T (p.Ser266Cys)
n.937A>T
16g.20348589T>CCA394985001UMODc.712A>G (p.Ser238Gly)
c.811A>G (p.Ser271Gly)
c.859A>G (p.Ser287Gly)
c.796A>G (p.Ser266Gly)
n.937A>G
 gnomAD v4
16g.20348589T>GCA394985004UMODc.712A>C (p.Ser238Arg)
c.811A>C (p.Ser271Arg)
c.859A>C (p.Ser287Arg)
c.796A>C (p.Ser266Arg)
n.937A>C
16g.20348590G>ACA494097224UMODc.711C>T (p.Ser237=)
c.810C>T (p.Ser270=)
c.858C>T (p.Ser286=)
c.795C>T (p.Ser265=)
n.936C>T
16g.20348590G>CCA494097225UMODc.711C>G (p.Ser237=)
c.810C>G (p.Ser270=)
c.858C>G (p.Ser286=)
c.795C>G (p.Ser265=)
n.936C>G
16g.20348590G=CA2211942216UMODc.711C= (p.Ser237=)
c.810C= (p.Ser270=)
c.858C= (p.Ser286=)
c.795C= (p.Ser265=)
n.936C=
16g.20348590G>TCA279299695UMODc.711C>A (p.Ser237=)
c.810C>A (p.Ser270=)
c.858C>A (p.Ser286=)
c.795C>A (p.Ser265=)
n.936C>A
 dbSNP gnomAD v4
16g.20348591G>ACA394985010UMODc.710C>T (p.Ser237Phe)
c.809C>T (p.Ser270Phe)
c.857C>T (p.Ser286Phe)
c.794C>T (p.Ser265Phe)
n.935C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348591G>CCA394985013UMODc.710C>G (p.Ser237Cys)
c.809C>G (p.Ser270Cys)
c.857C>G (p.Ser286Cys)
c.794C>G (p.Ser265Cys)
n.935C>G
16g.20348591G=CA2211942221UMODc.710C= (p.Ser237=)
c.809C= (p.Ser270=)
c.857C= (p.Ser286=)
c.794C= (p.Ser265=)
n.935C=
16g.20348591G>TCA394985011UMODc.710C>A (p.Ser237Tyr)
c.809C>A (p.Ser270Tyr)
c.857C>A (p.Ser286Tyr)
c.794C>A (p.Ser265Tyr)
n.935C>A
 gnomAD v4
16g.20348592A>CCA394985014UMODc.709T>G (p.Ser237Ala)
c.808T>G (p.Ser270Ala)
c.856T>G (p.Ser286Ala)
c.793T>G (p.Ser265Ala)
n.934T>G
16g.20348592A>GCA394985016UMODc.709T>C (p.Ser237Pro)
c.808T>C (p.Ser270Pro)
c.856T>C (p.Ser286Pro)
c.793T>C (p.Ser265Pro)
n.934T>C
 gnomAD v4
16g.20348592A>TCA394985017UMODc.709T>A (p.Ser237Thr)
c.808T>A (p.Ser270Thr)
c.856T>A (p.Ser286Thr)
c.793T>A (p.Ser265Thr)
n.934T>A
 gnomAD v4
16g.20348593C>ACA7939416UMODc.708G>T (p.Pro236=)
c.807G>T (p.Pro269=)
c.855G>T (p.Pro285=)
c.792G>T (p.Pro264=)
n.933G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348593C=CA2211942227UMODc.708G= (p.Pro236=)
c.807G= (p.Pro269=)
c.855G= (p.Pro285=)
c.792G= (p.Pro264=)
n.933G=
16g.20348593C>GCA494097229UMODc.708G>C (p.Pro236=)
c.807G>C (p.Pro269=)
c.855G>C (p.Pro285=)
c.792G>C (p.Pro264=)
n.933G>C
 gnomAD v4
16g.20348593C>TCA494097228UMODc.708G>A (p.Pro236=)
c.807G>A (p.Pro269=)
c.855G>A (p.Pro285=)
c.792G>A (p.Pro264=)
n.933G>A
 gnomAD v4
16g.20348594G>ACA394985022UMODc.707C>T (p.Pro236Leu)
c.806C>T (p.Pro269Leu)
c.854C>T (p.Pro285Leu)
c.791C>T (p.Pro264Leu)
n.932C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.20348594G>CCA394985026UMODc.707C>G (p.Pro236Arg)
c.806C>G (p.Pro269Arg)
c.854C>G (p.Pro285Arg)
c.791C>G (p.Pro264Arg)
n.932C>G
16g.20348594G=CA2211942231UMODc.707C= (p.Pro236=)
c.806C= (p.Pro269=)
c.854C= (p.Pro285=)
c.791C= (p.Pro264=)
n.932C=
16g.20348594G>TCA394985023UMODc.707C>A (p.Pro236Gln)
c.806C>A (p.Pro269Gln)
c.854C>A (p.Pro285Gln)
c.791C>A (p.Pro264Gln)
n.932C>A
 gnomAD v4
16g.20348595G>ACA394985027UMODc.706C>T (p.Pro236Ser)
c.805C>T (p.Pro269Ser)
c.853C>T (p.Pro285Ser)
c.790C>T (p.Pro264Ser)
n.931C>T
 gnomAD v4
16g.20348595G>CCA394985029UMODc.706C>G (p.Pro236Ala)
c.805C>G (p.Pro269Ala)
c.853C>G (p.Pro285Ala)
c.790C>G (p.Pro264Ala)
n.931C>G
16g.20348595G>TCA394985031UMODc.706C>A (p.Pro236Thr)
c.805C>A (p.Pro269Thr)
c.853C>A (p.Pro285Thr)
c.790C>A (p.Pro264Thr)
n.931C>A
 ClinVar gnomAD v4
16g.20348596A>CCA394985034UMODc.705T>G (p.His235Gln)
c.804T>G (p.His268Gln)
c.852T>G (p.His284Gln)
c.789T>G (p.His263Gln)
n.930T>G
16g.20348596A>GCA494097232UMODc.705T>C (p.His235=)
c.804T>C (p.His268=)
c.852T>C (p.His284=)
c.789T>C (p.His263=)
n.930T>C
16g.20348596A>TCA394985035UMODc.705T>A (p.His235Gln)
c.804T>A (p.His268Gln)
c.852T>A (p.His284Gln)
c.789T>A (p.His263Gln)
n.930T>A
16g.20348597T>ACA394985038UMODc.704A>T (p.His235Leu)
c.803A>T (p.His268Leu)
c.851A>T (p.His284Leu)
c.788A>T (p.His263Leu)
n.929A>T
16g.20348597T>CCA394985040UMODc.704A>G (p.His235Arg)
c.803A>G (p.His268Arg)
c.851A>G (p.His284Arg)
c.788A>G (p.His263Arg)
n.929A>G
16g.20348597T>GCA394985042UMODc.704A>C (p.His235Pro)
c.803A>C (p.His268Pro)
c.851A>C (p.His284Pro)
c.788A>C (p.His263Pro)
n.929A>C
16g.20348598G>ACA394985045UMODc.703C>T (p.His235Tyr)
c.802C>T (p.His268Tyr)
c.850C>T (p.His284Tyr)
c.787C>T (p.His263Tyr)
n.928C>T
 dbSNP gnomAD v3 gnomAD v4
16g.20348598G>CCA394985046UMODc.703C>G (p.His235Asp)
c.802C>G (p.His268Asp)
c.850C>G (p.His284Asp)
c.787C>G (p.His263Asp)
n.928C>G
16g.20348598G=CA2211942234UMODc.703C= (p.His235=)
c.802C= (p.His268=)
c.850C= (p.His284=)
c.787C= (p.His263=)
n.928C=
16g.20348598G>TCA394985048UMODc.703C>A (p.His235Asn)
c.802C>A (p.His268Asn)
c.850C>A (p.His284Asn)
c.787C>A (p.His263Asn)
n.928C>A
 gnomAD v4
16g.20348599C>ACA494097235UMODc.702G>T (p.Thr234=)
c.801G>T (p.Thr267=)
c.849G>T (p.Thr283=)
c.786G>T (p.Thr262=)
n.927G>T
 gnomAD v4
16g.20348599C=CA2211942237UMODc.702G= (p.Thr234=)
c.801G= (p.Thr267=)
c.849G= (p.Thr283=)
c.786G= (p.Thr262=)
n.927G=
16g.20348599C>GCA7939417UMODc.702G>C (p.Thr234=)
c.801G>C (p.Thr267=)
c.849G>C (p.Thr283=)
c.786G>C (p.Thr262=)
n.927G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348599C>TCA494097236UMODc.702G>A (p.Thr234=)
c.801G>A (p.Thr267=)
c.849G>A (p.Thr283=)
c.786G>A (p.Thr262=)
n.927G>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348600G>ACA394985053UMODc.701C>T (p.Thr234Met)
c.800C>T (p.Thr267Met)
c.848C>T (p.Thr283Met)
c.785C>T (p.Thr262Met)
n.926C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20348600G>CCA394985051UMODc.701C>G (p.Thr234Arg)
c.800C>G (p.Thr267Arg)
c.848C>G (p.Thr283Arg)
c.785C>G (p.Thr262Arg)
n.926C>G
 gnomAD v4
16g.20348600G=CA2211942246UMODc.701C= (p.Thr234=)
c.800C= (p.Thr267=)
c.848C= (p.Thr283=)
c.785C= (p.Thr262=)
n.926C=
16g.20348600G>TCA394985055UMODc.701C>A (p.Thr234Lys)
c.800C>A (p.Thr267Lys)
c.848C>A (p.Thr283Lys)
c.785C>A (p.Thr262Lys)
n.926C>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348601T>ACA394985056UMODc.700A>T (p.Thr234Ser)
c.799A>T (p.Thr267Ser)
c.847A>T (p.Thr283Ser)
c.784A>T (p.Thr262Ser)
n.925A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348601T>CCA394985057UMODc.700A>G (p.Thr234Ala)
c.799A>G (p.Thr267Ala)
c.847A>G (p.Thr283Ala)
c.784A>G (p.Thr262Ala)
n.925A>G
 gnomAD v4
16g.20348601T>GCA394985058UMODc.700A>C (p.Thr234Pro)
c.799A>C (p.Thr267Pro)
c.847A>C (p.Thr283Pro)
c.784A>C (p.Thr262Pro)
n.925A>C
16g.20348601T=CA2211942250UMODc.700A= (p.Thr234=)
c.799A= (p.Thr267=)
c.847A= (p.Thr283=)
c.784A= (p.Thr262=)
n.925A=
16g.20348602G>ACA7939418UMODc.699C>T (p.Gly233=)
c.798C>T (p.Gly266=)
c.846C>T (p.Gly282=)
c.783C>T (p.Gly261=)
n.924C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348602G>CCA494097239UMODc.699C>G (p.Gly233=)
c.798C>G (p.Gly266=)
c.846C>G (p.Gly282=)
c.783C>G (p.Gly261=)
n.924C>G
16g.20348602G=CA2211942252UMODc.699C= (p.Gly233=)
c.798C= (p.Gly266=)
c.846C= (p.Gly282=)
c.783C= (p.Gly261=)
n.924C=
16g.20348602G>TCA494097242UMODc.699C>A (p.Gly233=)
c.798C>A (p.Gly266=)
c.846C>A (p.Gly282=)
c.783C>A (p.Gly261=)
n.924C>A
 gnomAD v4
16g.20348603C>ACA394985060UMODc.698G>T (p.Gly233Val)
c.797G>T (p.Gly266Val)
c.845G>T (p.Gly282Val)
c.782G>T (p.Gly261Val)
n.923G>T
 ClinVar dbSNP
16g.20348603C=CA2211942257UMODc.698G= (p.Gly233=)
c.797G= (p.Gly266=)
c.845G= (p.Gly282=)
c.782G= (p.Gly261=)
n.923G=
16g.20348603C>GCA394985062UMODc.698G>C (p.Gly233Ala)
c.797G>C (p.Gly266Ala)
c.845G>C (p.Gly282Ala)
c.782G>C (p.Gly261Ala)
n.923G>C
16g.20348603C>TCA394985063UMODc.698G>A (p.Gly233Asp)
c.797G>A (p.Gly266Asp)
c.845G>A (p.Gly282Asp)
c.782G>A (p.Gly261Asp)
n.923G>A
 gnomAD v4
16g.20348604C>ACA394985064UMODc.697G>T (p.Gly233Cys)
c.796G>T (p.Gly266Cys)
c.844G>T (p.Gly282Cys)
c.781G>T (p.Gly261Cys)
n.922G>T
 gnomAD v4
16g.20348604C>GCA394985065UMODc.697G>C (p.Gly233Arg)
c.796G>C (p.Gly266Arg)
c.844G>C (p.Gly282Arg)
c.781G>C (p.Gly261Arg)
n.922G>C
16g.20348604C>TCA394985067UMODc.697G>A (p.Gly233Ser)
c.796G>A (p.Gly266Ser)
c.844G>A (p.Gly282Ser)
c.781G>A (p.Gly261Ser)
n.922G>A
 gnomAD v4
16g.20348605A=CA2211942264UMODc.696T= (p.Asn232=)
c.795T= (p.Asn265=)
c.843T= (p.Asn281=)
c.780T= (p.Asn260=)
n.921T=
16g.20348605A>CCA7939419UMODc.696T>G (p.Asn232Lys)
c.795T>G (p.Asn265Lys)
c.843T>G (p.Asn281Lys)
c.780T>G (p.Asn260Lys)
n.921T>G
 dbSNP ExAC gnomAD v3 gnomAD v4
16g.20348605A>GCA494097251UMODc.696T>C (p.Asn232=)
c.795T>C (p.Asn265=)
c.843T>C (p.Asn281=)
c.780T>C (p.Asn260=)
n.921T>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348605A>TCA394985068UMODc.696T>A (p.Asn232Lys)
c.795T>A (p.Asn265Lys)
c.843T>A (p.Asn281Lys)
c.780T>A (p.Asn260Lys)
n.921T>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348606T>ACA394985072UMODc.695A>T (p.Asn232Ile)
c.794A>T (p.Asn265Ile)
c.842A>T (p.Asn281Ile)
c.779A>T (p.Asn260Ile)
n.920A>T
16g.20348606T>CCA394985071UMODc.695A>G (p.Asn232Ser)
c.794A>G (p.Asn265Ser)
c.842A>G (p.Asn281Ser)
c.779A>G (p.Asn260Ser)
n.920A>G
16g.20348606T>GCA394985069UMODc.695A>C (p.Asn232Thr)
c.794A>C (p.Asn265Thr)
c.842A>C (p.Asn281Thr)
c.779A>C (p.Asn260Thr)
n.920A>C
16g.20348607T>ACA394985073UMODc.694A>T (p.Asn232Tyr)
c.793A>T (p.Asn265Tyr)
c.841A>T (p.Asn281Tyr)
c.778A>T (p.Asn260Tyr)
n.919A>T
16g.20348607T>CCA394985075UMODc.694A>G (p.Asn232Asp)
c.793A>G (p.Asn265Asp)
c.841A>G (p.Asn281Asp)
c.778A>G (p.Asn260Asp)
n.919A>G
 gnomAD v4
16g.20348607T>GCA394985076UMODc.694A>C (p.Asn232His)
c.793A>C (p.Asn265His)
c.841A>C (p.Asn281His)
c.778A>C (p.Asn260His)
n.919A>C
16g.20348608G>ACA494097254UMODc.693C>T (p.Leu231=)
c.792C>T (p.Leu264=)
c.840C>T (p.Leu280=)
c.777C>T (p.Leu259=)
n.918C>T
 gnomAD v4
16g.20348608G>CCA494097258UMODc.693C>G (p.Leu231=)
c.792C>G (p.Leu264=)
c.840C>G (p.Leu280=)
c.777C>G (p.Leu259=)
n.918C>G
16g.20348608G>TCA494097262UMODc.693C>A (p.Leu231=)
c.792C>A (p.Leu264=)
c.840C>A (p.Leu280=)
c.777C>A (p.Leu259=)
n.918C>A
 gnomAD v4
16g.20348609A>CCA394985078UMODc.692T>G (p.Leu231Arg)
c.791T>G (p.Leu264Arg)
c.839T>G (p.Leu280Arg)
c.776T>G (p.Leu259Arg)
n.917T>G
16g.20348609A>GCA394985079UMODc.692T>C (p.Leu231Pro)
c.791T>C (p.Leu264Pro)
c.839T>C (p.Leu280Pro)
c.776T>C (p.Leu259Pro)
n.917T>C
16g.20348609A>TCA394985081UMODc.692T>A (p.Leu231His)
c.791T>A (p.Leu264His)
c.839T>A (p.Leu280His)
c.776T>A (p.Leu259His)
n.917T>A
 gnomAD v4
16g.20348610G>ACA394985082UMODc.691C>T (p.Leu231Phe)
c.790C>T (p.Leu264Phe)
c.838C>T (p.Leu280Phe)
c.775C>T (p.Leu259Phe)
n.916C>T
 gnomAD v4
16g.20348610G>CCA394985084UMODc.691C>G (p.Leu231Val)
c.790C>G (p.Leu264Val)
c.838C>G (p.Leu280Val)
c.775C>G (p.Leu259Val)
n.916C>G
16g.20348610G>TCA394985085UMODc.691C>A (p.Leu231Ile)
c.790C>A (p.Leu264Ile)
c.838C>A (p.Leu280Ile)
c.775C>A (p.Leu259Ile)
n.916C>A
 gnomAD v4
16g.20348611C>ACA394985086UMODc.690G>T (p.Trp230Cys)
c.789G>T (p.Trp263Cys)
c.837G>T (p.Trp279Cys)
c.774G>T (p.Trp258Cys)
n.915G>T
 gnomAD v4
16g.20348611C=CA2211942268UMODc.690G= (p.Trp230=)
c.789G= (p.Trp263=)
c.837G= (p.Trp279=)
c.774G= (p.Trp258=)
n.915G=
16g.20348611C>GCA394985087UMODc.690G>C (p.Trp230Cys)
c.789G>C (p.Trp263Cys)
c.837G>C (p.Trp279Cys)
c.774G>C (p.Trp258Cys)
n.915G>C
16g.20348611C>TCA394985088UMODc.690G>A (p.Trp230Ter)
c.789G>A (p.Trp263Ter)
c.837G>A (p.Trp279Ter)
c.774G>A (p.Trp258Ter)
n.915G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348612C>ACA394985093UMODc.689G>T (p.Trp230Leu)
c.788G>T (p.Trp263Leu)
c.836G>T (p.Trp279Leu)
c.773G>T (p.Trp258Leu)
n.914G>T
 gnomAD v4
16g.20348612C>GCA394985092UMODc.689G>C (p.Trp230Ser)
c.788G>C (p.Trp263Ser)
c.836G>C (p.Trp279Ser)
c.773G>C (p.Trp258Ser)
n.914G>C
16g.20348612C>TCA394985091UMODc.689G>A (p.Trp230Ter)
c.788G>A (p.Trp263Ter)
c.836G>A (p.Trp279Ter)
c.773G>A (p.Trp258Ter)
n.914G>A
 gnomAD v4
16g.20348613A=CA2211942273UMODc.688T= (p.Trp230=)
c.787T= (p.Trp263=)
c.835T= (p.Trp279=)
c.772T= (p.Trp258=)
n.913T=
16g.20348613A>CCA394985095UMODc.688T>G (p.Trp230Gly)
c.787T>G (p.Trp263Gly)
c.835T>G (p.Trp279Gly)
c.772T>G (p.Trp258Gly)
n.913T>G
16g.20348613A>GCA394985097UMODc.688T>C (p.Trp230Arg)
c.787T>C (p.Trp263Arg)
c.835T>C (p.Trp279Arg)
c.772T>C (p.Trp258Arg)
n.913T>C
16g.20348613A>TCA394985098UMODc.688T>A (p.Trp230Arg)
c.787T>A (p.Trp263Arg)
c.835T>A (p.Trp279Arg)
c.772T>A (p.Trp258Arg)
n.913T>A
 ClinVar dbSNP gnomAD v4
16g.20348614C>ACA394985099UMODc.687G>T (p.Met229Ile)
c.786G>T (p.Met262Ile)
c.834G>T (p.Met278Ile)
c.771G>T (p.Met257Ile)
n.912G>T
16g.20348614C>GCA394985100UMODc.687G>C (p.Met229Ile)
c.786G>C (p.Met262Ile)
c.834G>C (p.Met278Ile)
c.771G>C (p.Met257Ile)
n.912G>C
16g.20348614C>TCA394985101UMODc.687G>A (p.Met229Ile)
c.786G>A (p.Met262Ile)
c.834G>A (p.Met278Ile)
c.771G>A (p.Met257Ile)
n.912G>A
 gnomAD v4
16g.20348615A>CCA394985102UMODc.686T>G (p.Met229Arg)
c.785T>G (p.Met262Arg)
c.833T>G (p.Met278Arg)
c.770T>G (p.Met257Arg)
n.911T>G
16g.20348615A>GCA394985103UMODc.686T>C (p.Met229Thr)
c.785T>C (p.Met262Thr)
c.833T>C (p.Met278Thr)
c.770T>C (p.Met257Thr)
n.911T>C
 gnomAD v4
16g.20348615A>TCA394985105UMODc.686T>A (p.Met229Lys)
c.785T>A (p.Met262Lys)
c.833T>A (p.Met278Lys)
c.770T>A (p.Met257Lys)
n.911T>A
16g.20348616T>ACA7939420UMODc.685A>T (p.Met229Leu)
c.784A>T (p.Met262Leu)
c.832A>T (p.Met278Leu)
c.769A>T (p.Met257Leu)
n.910A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348616T>CCA394985108UMODc.685A>G (p.Met229Val)
c.784A>G (p.Met262Val)
c.832A>G (p.Met278Val)
c.769A>G (p.Met257Val)
n.910A>G
 gnomAD v4
16g.20348616T>GCA394985109UMODc.685A>C (p.Met229Leu)
c.784A>C (p.Met262Leu)
c.832A>C (p.Met278Leu)
c.769A>C (p.Met257Leu)
n.910A>C
16g.20348616T=CA2211942280UMODc.685A= (p.Met229=)
c.784A= (p.Met262=)
c.832A= (p.Met278=)
c.769A= (p.Met257=)
n.910A=
16g.20348617G>ACA494097278UMODc.684C>T (p.Pro228=)
c.783C>T (p.Pro261=)
c.831C>T (p.Pro277=)
c.768C>T (p.Pro256=)
n.909C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348617G>CCA7939421UMODc.684C>G (p.Pro228=)
c.783C>G (p.Pro261=)
c.831C>G (p.Pro277=)
c.768C>G (p.Pro256=)
n.909C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348617G=CA2211942285UMODc.684C= (p.Pro228=)
c.783C= (p.Pro261=)
c.831C= (p.Pro277=)
c.768C= (p.Pro256=)
n.909C=
16g.20348617G>TCA494097281UMODc.684C>A (p.Pro228=)
c.783C>A (p.Pro261=)
c.831C>A (p.Pro277=)
c.768C>A (p.Pro256=)
n.909C>A
 gnomAD v4
16g.20348621delCA2632115222UMODc.684del (p.Met229CysfsTer15)
c.783del (p.Met262CysfsTer15)
c.831del (p.Met278CysfsTer15)
c.768del (p.Met257CysfsTer15)
n.909del
 gnomAD v4
16g.20348618G>ACA394985114UMODc.683C>T (p.Pro228Leu)
c.782C>T (p.Pro261Leu)
c.830C>T (p.Pro277Leu)
c.767C>T (p.Pro256Leu)
n.908C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348618G>CCA394985111UMODc.683C>G (p.Pro228Arg)
c.782C>G (p.Pro261Arg)
c.830C>G (p.Pro277Arg)
c.767C>G (p.Pro256Arg)
n.908C>G
 ClinVar dbSNP gnomAD v2
16g.20348618G=CA2211942288UMODc.683C= (p.Pro228=)
c.782C= (p.Pro261=)
c.830C= (p.Pro277=)
c.767C= (p.Pro256=)
n.908C=
16g.20348618G>TCA394985113UMODc.683C>A (p.Pro228His)
c.782C>A (p.Pro261His)
c.830C>A (p.Pro277His)
c.767C>A (p.Pro256His)
n.908C>A
 gnomAD v4
16g.20348619G>ACA394985115UMODc.682C>T (p.Pro228Ser)
c.781C>T (p.Pro261Ser)
c.829C>T (p.Pro277Ser)
c.766C>T (p.Pro256Ser)
n.907C>T
 gnomAD v4
16g.20348619G>CCA394985116UMODc.682C>G (p.Pro228Ala)
c.781C>G (p.Pro261Ala)
c.829C>G (p.Pro277Ala)
c.766C>G (p.Pro256Ala)
n.907C>G
16g.20348619G>TCA394985117UMODc.682C>A (p.Pro228Thr)
c.781C>A (p.Pro261Thr)
c.829C>A (p.Pro277Thr)
c.766C>A (p.Pro256Thr)
n.907C>A
 gnomAD v4
16g.20348620G>ACA494097287UMODc.681C>T (p.Ala227=)
c.780C>T (p.Ala260=)
c.828C>T (p.Ala276=)
c.765C>T (p.Ala255=)
n.906C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348620G>CCA494097286UMODc.681C>G (p.Ala227=)
c.780C>G (p.Ala260=)
c.828C>G (p.Ala276=)
c.765C>G (p.Ala255=)
n.906C>G
16g.20348620G=CA2211942295UMODc.681C= (p.Ala227=)
c.780C= (p.Ala260=)
c.828C= (p.Ala276=)
c.765C= (p.Ala255=)
n.906C=
16g.20348620G>TCA494097285UMODc.681C>A (p.Ala227=)
c.780C>A (p.Ala260=)
c.828C>A (p.Ala276=)
c.765C>A (p.Ala255=)
n.906C>A
 gnomAD v4
16g.20348621G>ACA394985118UMODc.680C>T (p.Ala227Val)
c.779C>T (p.Ala260Val)
c.827C>T (p.Ala276Val)
c.764C>T (p.Ala255Val)
n.905C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348621G>CCA394985120UMODc.680C>G (p.Ala227Gly)
c.779C>G (p.Ala260Gly)
c.827C>G (p.Ala276Gly)
c.764C>G (p.Ala255Gly)
n.905C>G
16g.20348621G=CA2211942300UMODc.680C= (p.Ala227=)
c.779C= (p.Ala260=)
c.827C= (p.Ala276=)
c.764C= (p.Ala255=)
n.905C=
16g.20348621G>TCA394985121UMODc.680C>A (p.Ala227Asp)
c.779C>A (p.Ala260Asp)
c.827C>A (p.Ala276Asp)
c.764C>A (p.Ala255Asp)
n.905C>A
 gnomAD v4
16g.20348622C>ACA394985123UMODc.679G>T (p.Ala227Ser)
c.778G>T (p.Ala260Ser)
c.826G>T (p.Ala276Ser)
c.763G>T (p.Ala255Ser)
n.904G>T
 gnomAD v4
16g.20348622C>GCA394985125UMODc.679G>C (p.Ala227Pro)
c.778G>C (p.Ala260Pro)
c.826G>C (p.Ala276Pro)
c.763G>C (p.Ala255Pro)
n.904G>C
 ClinVar
16g.20348622C>TCA394985126UMODc.679G>A (p.Ala227Thr)
c.778G>A (p.Ala260Thr)
c.826G>A (p.Ala276Thr)
c.763G>A (p.Ala255Thr)
n.904G>A
 gnomAD v4
16g.20348623G>ACA494097297UMODc.678C>T (p.Ala226=)
c.777C>T (p.Ala259=)
c.825C>T (p.Ala275=)
c.762C>T (p.Ala254=)
n.903C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348623G>CCA494097298UMODc.678C>G (p.Ala226=)
c.777C>G (p.Ala259=)
c.825C>G (p.Ala275=)
c.762C>G (p.Ala254=)
n.903C>G
16g.20348623G=CA2211942306UMODc.678C= (p.Ala226=)
c.777C= (p.Ala259=)
c.825C= (p.Ala275=)
c.762C= (p.Ala254=)
n.903C=
16g.20348623G>TCA494097299UMODc.678C>A (p.Ala226=)
c.777C>A (p.Ala259=)
c.825C>A (p.Ala275=)
c.762C>A (p.Ala254=)
n.903C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348624delCA2575933283UMODc.678del (p.Ala227ProfsTer17)
c.777del (p.Ala260ProfsTer17)
c.825del (p.Ala276ProfsTer17)
c.762del (p.Ala255ProfsTer17)
n.903del
16g.20348624G>ACA394985127UMODc.677C>T (p.Ala226Val)
c.776C>T (p.Ala259Val)
c.824C>T (p.Ala275Val)
c.761C>T (p.Ala254Val)
n.902C>T
 gnomAD v4
16g.20348624G>CCA394985128UMODc.677C>G (p.Ala226Gly)
c.776C>G (p.Ala259Gly)
c.824C>G (p.Ala275Gly)
c.761C>G (p.Ala254Gly)
n.902C>G
16g.20348624G>TCA394985130UMODc.677C>A (p.Ala226Asp)
c.776C>A (p.Ala259Asp)
c.824C>A (p.Ala275Asp)
c.761C>A (p.Ala254Asp)
n.902C>A
 gnomAD v4
16g.20348625C>ACA394985132UMODc.676G>T (p.Ala226Ser)
c.775G>T (p.Ala259Ser)
c.823G>T (p.Ala275Ser)
c.760G>T (p.Ala254Ser)
n.901G>T
 gnomAD v4
16g.20348625C>GCA394985134UMODc.676G>C (p.Ala226Pro)
c.775G>C (p.Ala259Pro)
c.823G>C (p.Ala275Pro)
c.760G>C (p.Ala254Pro)
n.901G>C
16g.20348625C>TCA394985133UMODc.676G>A (p.Ala226Thr)
c.775G>A (p.Ala259Thr)
c.823G>A (p.Ala275Thr)
c.760G>A (p.Ala254Thr)
n.901G>A
 gnomAD v4
16g.20348626C>ACA279299725UMODc.675G>T (p.Thr225=)
c.774G>T (p.Thr258=)
c.822G>T (p.Thr274=)
c.759G>T (p.Thr253=)
n.900G>T
 dbSNP gnomAD v4
16g.20348626C=CA2211942312UMODc.675G= (p.Thr225=)
c.774G= (p.Thr258=)
c.822G= (p.Thr274=)
c.759G= (p.Thr253=)
n.900G=
16g.20348626C>GCA494097305UMODc.675G>C (p.Thr225=)
c.774G>C (p.Thr258=)
c.822G>C (p.Thr274=)
c.759G>C (p.Thr253=)
n.900G>C
16g.20348626C>TCA279299715UMODc.675G>A (p.Thr225=)
c.774G>A (p.Thr258=)
c.822G>A (p.Thr274=)
c.759G>A (p.Thr253=)
n.900G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348627G>ACA394985135UMODc.674C>T (p.Thr225Met)
c.773C>T (p.Thr258Met)
c.821C>T (p.Thr274Met)
c.758C>T (p.Thr253Met)
n.899C>T
 ClinVar gnomAD v4
16g.20348627G>CCA394985138UMODc.674C>G (p.Thr225Arg)
c.773C>G (p.Thr258Arg)
c.821C>G (p.Thr274Arg)
c.758C>G (p.Thr253Arg)
n.899C>G
16g.20348627G>TCA394985136UMODc.674C>A (p.Thr225Lys)
c.773C>A (p.Thr258Lys)
c.821C>A (p.Thr274Lys)
c.758C>A (p.Thr253Lys)
n.899C>A
 gnomAD v4
16g.20348628T>ACA394985139UMODc.673A>T (p.Thr225Ser)
c.772A>T (p.Thr258Ser)
c.820A>T (p.Thr274Ser)
c.757A>T (p.Thr253Ser)
n.898A>T
16g.20348628T>CCA394985142UMODc.673A>G (p.Thr225Ala)
c.772A>G (p.Thr258Ala)
c.820A>G (p.Thr274Ala)
c.757A>G (p.Thr253Ala)
n.898A>G
16g.20348628T>GCA394985141UMODc.673A>C (p.Thr225Pro)
c.772A>C (p.Thr258Pro)
c.820A>C (p.Thr274Pro)
c.757A>C (p.Thr253Pro)
n.898A>C
16g.20348629G>ACA494097314UMODc.672C>T (p.Asn224=)
c.771C>T (p.Asn257=)
c.819C>T (p.Asn273=)
c.756C>T (p.Asn252=)
n.897C>T
16g.20348629G>CCA394985143UMODc.672C>G (p.Asn224Lys)
c.771C>G (p.Asn257Lys)
c.819C>G (p.Asn273Lys)
c.756C>G (p.Asn252Lys)
n.897C>G
16g.20348629G=CA2211942315UMODc.672C= (p.Asn224=)
c.771C= (p.Asn257=)
c.819C= (p.Asn273=)
c.756C= (p.Asn252=)
n.897C=
16g.20348629G>TCA279299729UMODc.672C>A (p.Asn224Lys)
c.771C>A (p.Asn257Lys)
c.819C>A (p.Asn273Lys)
c.756C>A (p.Asn252Lys)
n.897C>A
 dbSNP gnomAD v4 COSMIC COSMIC
16g.20348630T>ACA394985145UMODc.671A>T (p.Asn224Ile)
c.770A>T (p.Asn257Ile)
c.818A>T (p.Asn273Ile)
c.755A>T (p.Asn252Ile)
n.896A>T
 gnomAD v4
16g.20348630T>CCA394985147UMODc.671A>G (p.Asn224Ser)
c.770A>G (p.Asn257Ser)
c.818A>G (p.Asn273Ser)
c.755A>G (p.Asn252Ser)
n.896A>G
 gnomAD v4 COSMIC COSMIC
16g.20348630T>GCA394985148UMODc.671A>C (p.Asn224Thr)
c.770A>C (p.Asn257Thr)
c.818A>C (p.Asn273Thr)
c.755A>C (p.Asn252Thr)
n.896A>C
16g.20348631T>ACA394985149UMODc.670A>T (p.Asn224Tyr)
c.769A>T (p.Asn257Tyr)
c.817A>T (p.Asn273Tyr)
c.754A>T (p.Asn252Tyr)
n.895A>T
 gnomAD v4
16g.20348631T>CCA394985150UMODc.670A>G (p.Asn224Asp)
c.769A>G (p.Asn257Asp)
c.817A>G (p.Asn273Asp)
c.754A>G (p.Asn252Asp)
n.895A>G
16g.20348631T>GCA394985152UMODc.670A>C (p.Asn224His)
c.769A>C (p.Asn257His)
c.817A>C (p.Asn273His)
c.754A>C (p.Asn252His)
n.895A>C
16g.20348632G>ACA494097319UMODc.669C>T (p.Cys223=)
c.768C>T (p.Cys256=)
c.816C>T (p.Cys272=)
c.753C>T (p.Cys251=)
n.894C>T
 gnomAD v4
16g.20348632G>CCA394985154UMODc.669C>G (p.Cys223Trp)
c.768C>G (p.Cys256Trp)
c.816C>G (p.Cys272Trp)
c.753C>G (p.Cys251Trp)
n.894C>G
16g.20348632G>TCA394985155UMODc.669C>A (p.Cys223Ter)
c.768C>A (p.Cys256Ter)
c.816C>A (p.Cys272Ter)
c.753C>A (p.Cys251Ter)
n.894C>A
 gnomAD v4
16g.20348633C>ACA394985159UMODc.668G>T (p.Cys223Phe)
c.767G>T (p.Cys256Phe)
c.815G>T (p.Cys272Phe)
c.752G>T (p.Cys251Phe)
n.893G>T
 gnomAD v4
16g.20348633C>GCA394985158UMODc.668G>C (p.Cys223Ser)
c.767G>C (p.Cys256Ser)
c.815G>C (p.Cys272Ser)
c.752G>C (p.Cys251Ser)
n.893G>C
 gnomAD v4
16g.20348633C>TCA394985157UMODc.668G>A (p.Cys223Tyr)
c.767G>A (p.Cys256Tyr)
c.815G>A (p.Cys272Tyr)
c.752G>A (p.Cys251Tyr)
n.893G>A
 gnomAD v4
16g.20348634A>CCA394985161UMODc.667T>G (p.Cys223Gly)
c.766T>G (p.Cys256Gly)
c.814T>G (p.Cys272Gly)
c.751T>G (p.Cys251Gly)
n.892T>G
16g.20348634A>GCA394985162UMODc.667T>C (p.Cys223Arg)
c.766T>C (p.Cys256Arg)
c.814T>C (p.Cys272Arg)
c.751T>C (p.Cys251Arg)
n.892T>C
 gnomAD v4
16g.20348634A>TCA394985164UMODc.667T>A (p.Cys223Ser)
c.766T>A (p.Cys256Ser)
c.814T>A (p.Cys272Ser)
c.751T>A (p.Cys251Ser)
n.892T>A
16g.20348635G>ACA494097327UMODc.666C>T (p.Arg222=)
c.765C>T (p.Arg255=)
c.813C>T (p.Arg271=)
c.750C>T (p.Arg250=)
n.891C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348635G>CCA494097326UMODc.666C>G (p.Arg222=)
c.765C>G (p.Arg255=)
c.813C>G (p.Arg271=)
c.750C>G (p.Arg250=)
n.891C>G
16g.20348635G=CA2211942321UMODc.666C= (p.Arg222=)
c.765C= (p.Arg255=)
c.813C= (p.Arg271=)
c.750C= (p.Arg250=)
n.891C=
16g.20348635G>TCA494097325UMODc.666C>A (p.Arg222=)
c.765C>A (p.Arg255=)
c.813C>A (p.Arg271=)
c.750C>A (p.Arg250=)
n.891C>A
 gnomAD v4
16g.20348636C>ACA394985165UMODc.665G>T (p.Arg222Leu)
c.764G>T (p.Arg255Leu)
c.812G>T (p.Arg271Leu)
c.749G>T (p.Arg250Leu)
n.890G>T
 gnomAD v4
16g.20348636C>GCA394985166UMODc.665G>C (p.Arg222Pro)
c.764G>C (p.Arg255Pro)
c.812G>C (p.Arg271Pro)
c.749G>C (p.Arg250Pro)
n.890G>C
 gnomAD v4
16g.20348636C>TCA394985167UMODc.665G>A (p.Arg222His)
c.764G>A (p.Arg255His)
c.812G>A (p.Arg271His)
c.749G>A (p.Arg250His)
n.890G>A
 gnomAD v4
16g.20348637G>ACA394985169UMODc.664C>T (p.Arg222Cys)
c.763C>T (p.Arg255Cys)
c.811C>T (p.Arg271Cys)
c.748C>T (p.Arg250Cys)
n.889C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348637G>CCA394985171UMODc.664C>G (p.Arg222Gly)
c.763C>G (p.Arg255Gly)
c.811C>G (p.Arg271Gly)
c.748C>G (p.Arg250Gly)
n.889C>G
 gnomAD v4
16g.20348637G=CA2211942325UMODc.664C= (p.Arg222=)
c.763C= (p.Arg255=)
c.811C= (p.Arg271=)
c.748C= (p.Arg250=)
n.889C=
16g.20348637G>TCA394985172UMODc.664C>A (p.Arg222Ser)
c.763C>A (p.Arg255Ser)
c.811C>A (p.Arg271Ser)
c.748C>A (p.Arg250Ser)
n.889C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348638C>ACA494097330UMODc.663G>T (p.Leu221=)
c.762G>T (p.Leu254=)
c.810G>T (p.Leu270=)
c.747G>T (p.Leu249=)
n.888G>T
 gnomAD v4
16g.20348638C>GCA494097332UMODc.663G>C (p.Leu221=)
c.762G>C (p.Leu254=)
c.810G>C (p.Leu270=)
c.747G>C (p.Leu249=)
n.888G>C
16g.20348638C>TCA494097334UMODc.663G>A (p.Leu221=)
c.762G>A (p.Leu254=)
c.810G>A (p.Leu270=)
c.747G>A (p.Leu249=)
n.888G>A
16g.20348639A>CCA394985173UMODc.662T>G (p.Leu221Arg)
c.761T>G (p.Leu254Arg)
c.809T>G (p.Leu270Arg)
c.746T>G (p.Leu249Arg)
n.887T>G
16g.20348639A>GCA394985175UMODc.662T>C (p.Leu221Pro)
c.761T>C (p.Leu254Pro)
c.809T>C (p.Leu270Pro)
c.746T>C (p.Leu249Pro)
n.887T>C
 gnomAD v4
16g.20348639A>TCA394985176UMODc.662T>A (p.Leu221Gln)
c.761T>A (p.Leu254Gln)
c.809T>A (p.Leu270Gln)
c.746T>A (p.Leu249Gln)
n.887T>A
16g.20348640G>ACA494097340UMODc.661C>T (p.Leu221=)
c.760C>T (p.Leu254=)
c.808C>T (p.Leu270=)
c.745C>T (p.Leu249=)
n.886C>T
 gnomAD v4
16g.20348640G>CCA394985178UMODc.661C>G (p.Leu221Val)
c.760C>G (p.Leu254Val)
c.808C>G (p.Leu270Val)
c.745C>G (p.Leu249Val)
n.886C>G
16g.20348640G>TCA394985180UMODc.661C>A (p.Leu221Met)
c.760C>A (p.Leu254Met)
c.808C>A (p.Leu270Met)
c.745C>A (p.Leu249Met)
n.886C>A
 gnomAD v4
16g.20348640_20348738delCA2695222874UMODc.563_661del (p.Glu188_Leu221delinsVal)
c.662_760del (p.Glu221_Leu254delinsVal)
c.710_808del (p.Glu237_Leu270delinsVal)
c.647_745del (p.Glu216_Leu249delinsVal)
n.788_886del
16g.20348641G>ACA494097343UMODc.660C>T (p.Val220=)
c.759C>T (p.Val253=)
c.807C>T (p.Val269=)
c.744C>T (p.Val248=)
n.885C>T
 gnomAD v4
16g.20348641G>CCA494097345UMODc.660C>G (p.Val220=)
c.759C>G (p.Val253=)
c.807C>G (p.Val269=)
c.744C>G (p.Val248=)
n.885C>G
16g.20348641G>TCA494097347UMODc.660C>A (p.Val220=)
c.759C>A (p.Val253=)
c.807C>A (p.Val269=)
c.744C>A (p.Val248=)
n.885C>A
 gnomAD v4
16g.20348642A=CA2211942329UMODc.659T= (p.Val220=)
c.758T= (p.Val253=)
c.806T= (p.Val269=)
c.743T= (p.Val248=)
n.884T=
16g.20348642A>CCA394985181UMODc.659T>G (p.Val220Gly)
c.758T>G (p.Val253Gly)
c.806T>G (p.Val269Gly)
c.743T>G (p.Val248Gly)
n.884T>G
16g.20348642A>GCA394985182UMODc.659T>C (p.Val220Ala)
c.758T>C (p.Val253Ala)
c.806T>C (p.Val269Ala)
c.743T>C (p.Val248Ala)
n.884T>C
 dbSNP gnomAD v4
16g.20348642A>TCA394985184UMODc.659T>A (p.Val220Asp)
c.758T>A (p.Val253Asp)
c.806T>A (p.Val269Asp)
c.743T>A (p.Val248Asp)
n.884T>A
 gnomAD v4
16g.20348643C>ACA394985185UMODc.658G>T (p.Val220Phe)
c.757G>T (p.Val253Phe)
c.805G>T (p.Val269Phe)
c.742G>T (p.Val248Phe)
n.883G>T
 gnomAD v4
16g.20348643C>GCA394985187UMODc.658G>C (p.Val220Leu)
c.757G>C (p.Val253Leu)
c.805G>C (p.Val269Leu)
c.742G>C (p.Val248Leu)
n.883G>C
16g.20348643C>TCA394985188UMODc.658G>A (p.Val220Ile)
c.757G>A (p.Val253Ile)
c.805G>A (p.Val269Ile)
c.742G>A (p.Val248Ile)
n.883G>A
 gnomAD v4
16g.20348644T>ACA494097356UMODc.657A>T (p.Pro219=)
c.756A>T (p.Pro252=)
c.804A>T (p.Pro268=)
c.741A>T (p.Pro247=)
n.882A>T
16g.20348644T>CCA494097357UMODc.657A>G (p.Pro219=)
c.756A>G (p.Pro252=)
c.804A>G (p.Pro268=)
c.741A>G (p.Pro247=)
n.882A>G
 gnomAD v4
16g.20348644T>GCA494097358UMODc.657A>C (p.Pro219=)
c.756A>C (p.Pro252=)
c.804A>C (p.Pro268=)
c.741A>C (p.Pro247=)
n.882A>C
16g.20348645G>ACA7939422UMODc.656C>T (p.Pro219Leu)
c.755C>T (p.Pro252Leu)
c.803C>T (p.Pro268Leu)
c.740C>T (p.Pro247Leu)
n.881C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348645G>CCA394985190UMODc.656C>G (p.Pro219Arg)
c.755C>G (p.Pro252Arg)
c.803C>G (p.Pro268Arg)
c.740C>G (p.Pro247Arg)
n.881C>G
16g.20348645G=CA2211942335UMODc.656C= (p.Pro219=)
c.755C= (p.Pro252=)
c.803C= (p.Pro268=)
c.740C= (p.Pro247=)
n.881C=
16g.20348645G>TCA394985191UMODc.656C>A (p.Pro219Gln)
c.755C>A (p.Pro252Gln)
c.803C>A (p.Pro268Gln)
c.740C>A (p.Pro247Gln)
n.881C>A
 gnomAD v4
16g.20348646G>ACA394985192UMODc.655C>T (p.Pro219Ser)
c.754C>T (p.Pro252Ser)
c.802C>T (p.Pro268Ser)
c.739C>T (p.Pro247Ser)
n.880C>T
 gnomAD v4
16g.20348646G>CCA7939423UMODc.655C>G (p.Pro219Ala)
c.754C>G (p.Pro252Ala)
c.802C>G (p.Pro268Ala)
c.739C>G (p.Pro247Ala)
n.880C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348646G=CA2211942337UMODc.655C= (p.Pro219=)
c.754C= (p.Pro252=)
c.802C= (p.Pro268=)
c.739C= (p.Pro247=)
n.880C=
16g.20348646G>TCA394985194UMODc.655C>A (p.Pro219Thr)
c.754C>A (p.Pro252Thr)
c.802C>A (p.Pro268Thr)
c.739C>A (p.Pro247Thr)
n.880C>A
 gnomAD v4
16g.20348647C>ACA494097369UMODc.654G>T (p.Val218=)
c.753G>T (p.Val251=)
c.801G>T (p.Val267=)
c.738G>T (p.Val246=)
n.879G>T
 gnomAD v4
16g.20348647C>GCA494097371UMODc.654G>C (p.Val218=)
c.753G>C (p.Val251=)
c.801G>C (p.Val267=)
c.738G>C (p.Val246=)
n.879G>C
16g.20348647C>TCA494097370UMODc.654G>A (p.Val218=)
c.753G>A (p.Val251=)
c.801G>A (p.Val267=)
c.738G>A (p.Val246=)
n.879G>A
 gnomAD v3 gnomAD v4
16g.20348648A>CCA394985200UMODc.653T>G (p.Val218Gly)
c.752T>G (p.Val251Gly)
c.800T>G (p.Val267Gly)
c.737T>G (p.Val246Gly)
n.878T>G
16g.20348648A>GCA394985196UMODc.653T>C (p.Val218Ala)
c.752T>C (p.Val251Ala)
c.800T>C (p.Val267Ala)
c.737T>C (p.Val246Ala)
n.878T>C
 gnomAD v4
16g.20348648A>TCA394985198UMODc.653T>A (p.Val218Glu)
c.752T>A (p.Val251Glu)
c.800T>A (p.Val267Glu)
c.737T>A (p.Val246Glu)
n.878T>A
16g.20348649C>ACA394985202UMODc.652G>T (p.Val218Leu)
c.751G>T (p.Val251Leu)
c.799G>T (p.Val267Leu)
c.736G>T (p.Val246Leu)
n.877G>T
 gnomAD v4
16g.20348649C=CA2211942339UMODc.652G= (p.Val218=)
c.751G= (p.Val251=)
c.799G= (p.Val267=)
c.736G= (p.Val246=)
n.877G=
16g.20348649C>GCA394985203UMODc.652G>C (p.Val218Leu)
c.751G>C (p.Val251Leu)
c.799G>C (p.Val267Leu)
c.736G>C (p.Val246Leu)
n.877G>C
16g.20348649C>TCA394985204UMODc.652G>A (p.Val218Met)
c.751G>A (p.Val251Met)
c.799G>A (p.Val267Met)
c.736G>A (p.Val246Met)
n.877G>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348650G>ACA494097380UMODc.651C>T (p.Cys217=)
c.750C>T (p.Cys250=)
c.798C>T (p.Cys266=)
c.735C>T (p.Cys245=)
n.876C>T
 dbSNP gnomAD v4
16g.20348650G>CCA394985206UMODc.651C>G (p.Cys217Trp)
c.750C>G (p.Cys250Trp)
c.798C>G (p.Cys266Trp)
c.735C>G (p.Cys245Trp)
n.876C>G
 ClinVar dbSNP
16g.20348650G=CA2211942343UMODc.651C= (p.Cys217=)
c.750C= (p.Cys250=)
c.798C= (p.Cys266=)
c.735C= (p.Cys245=)
n.876C=
16g.20348650G>TCA394985208UMODc.651C>A (p.Cys217Ter)
c.750C>A (p.Cys250Ter)
c.798C>A (p.Cys266Ter)
c.735C>A (p.Cys245Ter)
n.876C>A
 dbSNP gnomAD v4
16g.20348651C>ACA394985209UMODc.650G>T (p.Cys217Phe)
c.749G>T (p.Cys250Phe)
c.797G>T (p.Cys266Phe)
c.734G>T (p.Cys245Phe)
n.875G>T
 gnomAD v4
16g.20348651C>GCA394985210UMODc.650G>C (p.Cys217Ser)
c.749G>C (p.Cys250Ser)
c.797G>C (p.Cys266Ser)
c.734G>C (p.Cys245Ser)
n.875G>C
16g.20348651C>TCA394985211UMODc.650G>A (p.Cys217Tyr)
c.749G>A (p.Cys250Tyr)
c.797G>A (p.Cys266Tyr)
c.734G>A (p.Cys245Tyr)
n.875G>A
 gnomAD v4
16g.20348652A=CA2211942356UMODc.649T= (p.Cys217=)
c.748T= (p.Cys250=)
c.796T= (p.Cys266=)
c.733T= (p.Cys245=)
n.874T=
16g.20348652A>CCA261112UMODc.649T>G (p.Cys217Gly)
c.748T>G (p.Cys250Gly)
c.796T>G (p.Cys266Gly)
c.733T>G (p.Cys245Gly)
n.874T>G
 ClinVar dbSNP
16g.20348652A>GCA256240UMODc.649T>C (p.Cys217Arg)
c.748T>C (p.Cys250Arg)
c.796T>C (p.Cys266Arg)
c.733T>C (p.Cys245Arg)
n.874T>C
 ClinVar dbSNP gnomAD v4
16g.20348652A>TCA394985213UMODc.649T>A (p.Cys217Ser)
c.748T>A (p.Cys250Ser)
c.796T>A (p.Cys266Ser)
c.733T>A (p.Cys245Ser)
n.874T>A

Number of alleles fetched