Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.111410074_111410766delCA2580612296DCXc.-23+134_326del
c.-22-345_326del
c.-34_326del
c.210_569del
c.185_544del
n.219-345_566del
ClinVar
Xg.111410164T>ACA414246825DCXc.235A>T (p.Ser79Cys)
c.478A>T (p.Ser160Cys)
c.453A>T
n.475A>T
Xg.111410164T>CCA414246826DCXc.235A>G (p.Ser79Gly)
c.478A>G (p.Ser160Gly)
c.453A>G
n.475A>G
Xg.111410164T>GCA414246827DCXc.235A>C (p.Ser79Arg)
c.478A>C (p.Ser160Arg)
c.453A>C
n.475A>C
Xg.111410164_111410173delinsTGCGAAAACGCA2451700393DCXc.226_235delinsCGTTTTCGCA (p.Arg76=)
c.469_478delinsCGTTTTCGCA (p.Arg157=)
c.444_453delinsCGTTTTCGCA
n.466_475delinsCGTTTTCGCA
Xg.111410165G>ACA518114536DCXc.234C>T (p.Arg78=)
c.477C>T (p.Arg159=)
c.452C>T
n.474C>T
Xg.111410165G>CCA518114537DCXc.234C>G (p.Arg78=)
c.477C>G (p.Arg159=)
c.452C>G
n.474C>G
Xg.111410165G>TCA518114538DCXc.234C>A (p.Arg78=)
c.477C>A (p.Arg159=)
c.452C>A
n.474C>A
Xg.111410166C>ACA171896DCXc.233G>T (p.Arg78Leu)
c.476G>T (p.Arg159Leu)
c.451G>T
n.473G>T
ClinVar dbSNP
Xg.111410166C=CA2451700394DCXc.233G= (p.Arg78=)
c.476G= (p.Arg159=)
c.451G=
n.473G=
Xg.111410166C>GCA414246828DCXc.233G>C (p.Arg78Pro)
c.476G>C (p.Arg159Pro)
c.451G>C
n.473G>C
Xg.111410166C>TCA121602DCXc.233G>A (p.Arg78His)
c.476G>A (p.Arg159His)
c.451G>A
n.473G>A
ClinVar dbSNP COSMIC COSMIC
Xg.111410167G>ACA171893DCXc.232C>T (p.Arg78Cys)
c.475C>T (p.Arg159Cys)
c.450C>T
n.472C>T
ClinVar dbSNP COSMIC COSMIC
Xg.111410167G>CCA414246829DCXc.232C>G (p.Arg78Gly)
c.475C>G (p.Arg159Gly)
c.450C>G
n.472C>G
Xg.111410167G=CA2451700395DCXc.232C= (p.Arg78=)
c.475C= (p.Arg159=)
c.450C=
n.472C=
Xg.111410167G>TCA414246830DCXc.232C>A (p.Arg78Ser)
c.475C>A (p.Arg159Ser)
c.450C>A
n.472C>A
Xg.111410168A=CA2451700396DCXc.231T= (p.Phe77=)
c.474T= (p.Phe158=)
c.449T=
n.471T=
Xg.111410168A>CCA414246831DCXc.231T>G (p.Phe77Leu)
c.474T>G (p.Phe158Leu)
c.449T>G
n.471T>G
Xg.111410168A>GCA334420943DCXc.231T>C (p.Phe77=)
c.474T>C (p.Phe158=)
c.449T>C
n.471T>C
dbSNP
Xg.111410168A>TCA414246832DCXc.231T>A (p.Phe77Leu)
c.474T>A (p.Phe158Leu)
c.449T>A
n.471T>A
Xg.111410169A>CCA414246833DCXc.230T>G (p.Phe77Cys)
c.473T>G (p.Phe158Cys)
c.448T>G
n.470T>G
Xg.111410169A>GCA414246835DCXc.230T>C (p.Phe77Ser)
c.473T>C (p.Phe158Ser)
c.448T>C
n.470T>C
Xg.111410169A>TCA414246834DCXc.230T>A (p.Phe77Tyr)
c.473T>A (p.Phe158Tyr)
c.448T>A
n.470T>A
Xg.111410170A>CCA414246836DCXc.229T>G (p.Phe77Val)
c.472T>G (p.Phe158Val)
c.447T>G
n.469T>G
Xg.111410170A>GCA414246837DCXc.229T>C (p.Phe77Leu)
c.472T>C (p.Phe158Leu)
c.447T>C
n.469T>C
Xg.111410170A>TCA414246838DCXc.229T>A (p.Phe77Ile)
c.472T>A (p.Phe158Ile)
c.447T>A
n.469T>A
Xg.111410171A>CCA518114549DCXc.228T>G (p.Arg76=)
c.471T>G (p.Arg157=)
c.446T>G
n.468T>G
Xg.111410171A>GCA518114550DCXc.228T>C (p.Arg76=)
c.471T>C (p.Arg157=)
c.446T>C
n.468T>C
Xg.111410171A>TCA518114548DCXc.228T>A (p.Arg76=)
c.471T>A (p.Arg157=)
c.446T>A
n.468T>A
Xg.111410172C>ACA414246839DCXc.227G>T (p.Arg76Leu)
c.470G>T (p.Arg157Leu)
c.445G>T
n.467G>T
Xg.111410172C>GCA414246840DCXc.227G>C (p.Arg76Pro)
c.470G>C (p.Arg157Pro)
c.445G>C
n.467G>C
Xg.111410172C>TCA414246841DCXc.227G>A (p.Arg76His)
c.470G>A (p.Arg157His)
c.445G>A
n.467G>A
Xg.111410173G>ACA171890DCXc.226C>T (p.Arg76Cys)
c.469C>T (p.Arg157Cys)
c.444C>T
n.466C>T
ClinVar dbSNP
Xg.111410173G>CCA414246842DCXc.226C>G (p.Arg76Gly)
c.469C>G (p.Arg157Gly)
c.444C>G
n.466C>G
ClinVar dbSNP
Xg.111410173G=CA2451700397DCXc.226C= (p.Arg76=)
c.469C= (p.Arg157=)
c.444C=
n.466C=
Xg.111410173G>TCA414246843DCXc.226C>A (p.Arg76Ser)
c.469C>A (p.Arg157Ser)
c.444C>A
n.466C>A
dbSNP gnomAD v2 gnomAD v4
Xg.111410174G>ACA518114553DCXc.225C>T (p.Asp75=)
c.468C>T (p.Asp156=)
c.443C>T
n.465C>T
Xg.111410174G>CCA414246844DCXc.225C>G (p.Asp75Glu)
c.468C>G (p.Asp156Glu)
c.443C>G
n.465C>G
Xg.111410174G>TCA414246845DCXc.225C>A (p.Asp75Glu)
c.468C>A (p.Asp156Glu)
c.443C>A
n.465C>A
Xg.111410175T>ACA414246847DCXc.224A>T (p.Asp75Val)
c.467A>T (p.Asp156Val)
c.442A>T
n.464A>T
Xg.111410175T>CCA414246848DCXc.224A>G (p.Asp75Gly)
c.467A>G (p.Asp156Gly)
c.442A>G
n.464A>G
Xg.111410175T>GCA414246846DCXc.224A>C (p.Asp75Ala)
c.467A>C (p.Asp156Ala)
c.442A>C
n.464A>C
Xg.111410176C>ACA414246850DCXc.223G>T (p.Asp75Tyr)
c.466G>T (p.Asp156Tyr)
c.441G>T
n.463G>T
Xg.111410176C>GCA414246849DCXc.223G>C (p.Asp75His)
c.466G>C (p.Asp156His)
c.441G>C
n.463G>C
Xg.111410176C>TCA414246851DCXc.223G>A (p.Asp75Asn)
c.466G>A (p.Asp156Asn)
c.441G>A
n.463G>A
COSMIC COSMIC
Xg.111410177A>CCA518114561DCXc.222T>G (p.Ser74=)
c.465T>G (p.Ser155=)
c.440T>G
n.462T>G
Xg.111410177A>GCA518114562DCXc.222T>C (p.Ser74=)
c.465T>C (p.Ser155=)
c.440T>C
n.462T>C
Xg.111410177A>TCA518114563DCXc.222T>A (p.Ser74=)
c.465T>A (p.Ser155=)
c.440T>A
n.462T>A
Xg.111410178G>ACA414246852DCXc.221C>T (p.Ser74Phe)
c.464C>T (p.Ser155Phe)
c.439C>T
n.461C>T
Xg.111410178G>CCA414246853DCXc.221C>G (p.Ser74Cys)
c.464C>G (p.Ser155Cys)
c.439C>G
n.461C>G
Xg.111410178G>TCA414246854DCXc.221C>A (p.Ser74Tyr)
c.464C>A (p.Ser155Tyr)
c.439C>A
n.461C>A
Xg.111410179A>CCA414246855DCXc.220T>G (p.Ser74Ala)
c.463T>G (p.Ser155Ala)
c.438T>G
n.460T>G
Xg.111410179A>GCA414246856DCXc.220T>C (p.Ser74Pro)
c.463T>C (p.Ser155Pro)
c.438T>C
n.460T>C
Xg.111410179A>TCA414246857DCXc.220T>A (p.Ser74Thr)
c.463T>A (p.Ser155Thr)
c.438T>A
n.460T>A
Xg.111410180G>ACA518114568DCXc.219C>T (p.Ser73=)
c.462C>T (p.Ser154=)
c.437C>T
n.459C>T
Xg.111410180G>CCA518114571DCXc.219C>G (p.Ser73=)
c.462C>G (p.Ser154=)
c.437C>G
n.459C>G
Xg.111410180G>TCA518114572DCXc.219C>A (p.Ser73=)
c.462C>A (p.Ser154=)
c.437C>A
n.459C>A
Xg.111410181G>ACA171887DCXc.218C>T (p.Ser73Phe)
c.461C>T (p.Ser154Phe)
c.436C>T
n.458C>T
ClinVar dbSNP
Xg.111410181G>CCA414246858DCXc.218C>G (p.Ser73Cys)
c.461C>G (p.Ser154Cys)
c.436C>G
n.458C>G
Xg.111410181G=CA2451700398DCXc.218C= (p.Ser73=)
c.461C= (p.Ser154=)
c.436C=
n.458C=
Xg.111410181G>TCA414246859DCXc.218C>A (p.Ser73Tyr)
c.461C>A (p.Ser154Tyr)
c.436C>A
n.458C>A
Xg.111410182A>CCA414246860DCXc.217T>G (p.Ser73Ala)
c.460T>G (p.Ser154Ala)
c.435T>G
n.457T>G
Xg.111410182A>GCA414246861DCXc.217T>C (p.Ser73Pro)
c.460T>C (p.Ser154Pro)
c.435T>C
n.457T>C
Xg.111410182A>TCA414246862DCXc.217T>A (p.Ser73Thr)
c.460T>A (p.Ser154Thr)
c.435T>A
n.457T>A
Xg.111410183C>ACA518114573DCXc.216G>T (p.Val72=)
c.459G>T (p.Val153=)
c.434G>T
n.456G>T
Xg.111410183C>GCA518114574DCXc.216G>C (p.Val72=)
c.459G>C (p.Val153=)
c.434G>C
n.456G>C
Xg.111410183C>TCA518114576DCXc.216G>A (p.Val72=)
c.459G>A (p.Val153=)
c.434G>A
n.456G>A
Xg.111410184A>CCA414246865DCXc.215T>G (p.Val72Gly)
c.458T>G (p.Val153Gly)
c.433T>G
n.455T>G
Xg.111410184A>GCA414246863DCXc.215T>C (p.Val72Ala)
c.458T>C (p.Val153Ala)
c.433T>C
n.455T>C
Xg.111410184A>TCA414246864DCXc.215T>A (p.Val72Glu)
c.458T>A (p.Val153Glu)
c.433T>A
n.455T>A
Xg.111410185C>ACA414246866DCXc.214G>T (p.Val72Leu)
c.457G>T (p.Val153Leu)
c.432G>T
n.454G>T
Xg.111410185C>GCA414246867DCXc.214G>C (p.Val72Leu)
c.457G>C (p.Val153Leu)
c.432G>C
n.454G>C
Xg.111410185C>TCA414246868DCXc.214G>A (p.Val72Met)
c.457G>A (p.Val153Met)
c.432G>A
n.454G>A
Xg.111410186A>CCA518114578DCXc.213T>G (p.Ala71=)
c.456T>G (p.Ala152=)
c.431T>G
n.453T>G
Xg.111410186A>GCA518114579DCXc.213T>C (p.Ala71=)
c.456T>C (p.Ala152=)
c.431T>C
n.453T>C
gnomAD v4
Xg.111410186A>TCA518114580DCXc.213T>A (p.Ala71=)
c.456T>A (p.Ala152=)
c.431T>A
n.453T>A
Xg.111410187G>ACA414246869DCXc.212C>T (p.Ala71Val)
c.455C>T (p.Ala152Val)
c.430C>T
n.452C>T
COSMIC
Xg.111410187G>CCA414246870DCXc.212C>G (p.Ala71Gly)
c.455C>G (p.Ala152Gly)
c.430C>G
n.452C>G
Xg.111410187G>TCA414246871DCXc.212C>A (p.Ala71Asp)
c.455C>A (p.Ala152Asp)
c.430C>A
n.452C>A
dbSNP
Xg.111410188C>ACA121609DCXc.211G>T (p.Ala71Ser)
c.454G>T (p.Ala152Ser)
c.429G>T
n.451G>T
ClinVar dbSNP
Xg.111410188C=CA2451700399DCXc.211G= (p.Ala71=)
c.454G= (p.Ala152=)
c.429G=
n.451G=
Xg.111410188C>GCA414246872DCXc.211G>C (p.Ala71Pro)
c.454G>C (p.Ala152Pro)
c.429G>C
n.451G>C
COSMIC
Xg.111410188C>TCA414246873DCXc.211G>A (p.Ala71Thr)
c.454G>A (p.Ala152Thr)
c.429G>A
n.451G>A
ClinVar dbSNP
Xg.111410189G>ACA518114585DCXc.210C>T (p.Tyr70=)
c.453C>T (p.Tyr151=)
c.428C>T
n.450C>T
gnomAD v4 COSMIC COSMIC
Xg.111410189G>CCA414246874DCXc.210C>G (p.Tyr70Ter)
c.453C>G (p.Tyr151Ter)
c.428C>G
n.450C>G
Xg.111410189G=CA2451700400DCXc.210C= (p.Tyr70=)
c.453C= (p.Tyr151=)
c.428C=
n.450C=
Xg.111410189G>TCA171884DCXc.210C>A (p.Tyr70Ter)
c.453C>A (p.Tyr151Ter)
c.428C>A
n.450C>A
ClinVar dbSNP COSMIC COSMIC
Xg.111410190T>ACA414246877DCXc.209A>T (p.Tyr70Phe)
c.452A>T (p.Tyr151Phe)
c.427A>T
n.449A>T
Xg.111410190T>CCA414246876DCXc.209A>G (p.Tyr70Cys)
c.452A>G (p.Tyr151Cys)
c.427A>G
n.449A>G
dbSNP gnomAD v4 COSMIC COSMIC
Xg.111410190T>GCA414246875DCXc.209A>C (p.Tyr70Ser)
c.452A>C (p.Tyr151Ser)
c.427A>C
n.449A>C
Xg.111410191A>CCA414246878DCXc.208T>G (p.Tyr70Asp)
c.451T>G (p.Tyr151Asp)
c.426T>G
n.448T>G
Xg.111410191A>GCA414246879DCXc.208T>C (p.Tyr70His)
c.451T>C (p.Tyr151His)
c.426T>C
n.448T>C
gnomAD v4
Xg.111410191A>TCA414246880DCXc.208T>A (p.Tyr70Asn)
c.451T>A (p.Tyr151Asn)
c.426T>A
n.448T>A
Xg.111410192C>ACA518114588DCXc.207G>T (p.Val69=)
c.450G>T (p.Val150=)
c.425G>T
n.447G>T
dbSNP
Xg.111410192C>GCA518114590DCXc.207G>C (p.Val69=)
c.450G>C (p.Val150=)
c.425G>C
n.447G>C
Xg.111410192C>TCA518114591DCXc.207G>A (p.Val69=)
c.450G>A (p.Val150=)
c.425G>A
n.447G>A
Xg.111410193A>CCA414246881DCXc.206T>G (p.Val69Gly)
c.449T>G (p.Val150Gly)
c.424T>G
n.446T>G
Xg.111410193A>GCA414246882DCXc.206T>C (p.Val69Ala)
c.449T>C (p.Val150Ala)
c.424T>C
n.446T>C
Xg.111410193A>TCA414246883DCXc.206T>A (p.Val69Glu)
c.449T>A (p.Val150Glu)
c.424T>A
n.446T>A
Xg.111410194C>ACA414246884DCXc.205G>T (p.Val69Leu)
c.448G>T (p.Val150Leu)
c.423G>T
n.445G>T
Xg.111410194C>GCA414246885DCXc.205G>C (p.Val69Leu)
c.448G>C (p.Val150Leu)
c.423G>C
n.445G>C
Xg.111410194C>TCA414246886DCXc.205G>A (p.Val69Met)
c.448G>A (p.Val150Met)
c.423G>A
n.445G>A
COSMIC COSMIC
Xg.111410195A=CA2451700401DCXc.204T= (p.Ile68=)
c.447T= (p.Ile149=)
c.422T=
n.444T=
Xg.111410195A>CCA10493339DCXc.204T>G (p.Ile68Met)
c.447T>G (p.Ile149Met)
c.422T>G
n.444T>G
dbSNP ExAC gnomAD v2
Xg.111410195A>GCA518114598DCXc.204T>C (p.Ile68=)
c.447T>C (p.Ile149=)
c.422T>C
n.444T>C
Xg.111410195A>TCA518114597DCXc.204T>A (p.Ile68=)
c.447T>A (p.Ile149=)
c.422T>A
n.444T>A
Xg.111410196A>CCA414246887DCXc.203T>G (p.Ile68Ser)
c.446T>G (p.Ile149Ser)
c.421T>G
n.443T>G
Xg.111410196A>GCA414246888DCXc.203T>C (p.Ile68Thr)
c.446T>C (p.Ile149Thr)
c.421T>C
n.443T>C
Xg.111410196A>TCA414246889DCXc.203T>A (p.Ile68Asn)
c.446T>A (p.Ile149Asn)
c.421T>A
n.443T>A
Xg.111410197T>ACA414246892DCXc.202A>T (p.Ile68Phe)
c.445A>T (p.Ile149Phe)
c.420A>T
n.442A>T
gnomAD v4
Xg.111410197T>CCA414246890DCXc.202A>G (p.Ile68Val)
c.445A>G (p.Ile149Val)
c.420A>G
n.442A>G
Xg.111410197T>GCA414246891DCXc.202A>C (p.Ile68Leu)
c.445A>C (p.Ile149Leu)
c.420A>C
n.442A>C
Xg.111410198C>ACA518114602DCXc.201G>T (p.Gly67=)
c.444G>T (p.Gly148=)
c.419G>T
n.441G>T
Xg.111410198C=CA2451700402DCXc.201G= (p.Gly67=)
c.444G= (p.Gly148=)
c.419G=
n.441G=
Xg.111410198C>GCA10493340DCXc.201G>C (p.Gly67=)
c.444G>C (p.Gly148=)
c.419G>C
n.441G>C
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111410198C>TCA518114603DCXc.201G>A (p.Gly67=)
c.444G>A (p.Gly148=)
c.419G>A
n.441G>A
Xg.111410201delCA2695235807DCXc.201del (p.Ile68LeufsTer20)
c.444del (p.Ile149LeufsTer20)
c.419del
n.441del
Xg.111410199C>ACA414246893DCXc.200G>T (p.Gly67Val)
c.443G>T (p.Gly148Val)
c.418G>T
n.440G>T
Xg.111410199C>GCA414246894DCXc.200G>C (p.Gly67Ala)
c.443G>C (p.Gly148Ala)
c.418G>C
n.440G>C
Xg.111410199C>TCA414246895DCXc.200G>A (p.Gly67Glu)
c.443G>A (p.Gly148Glu)
c.418G>A
n.440G>A
Xg.111410200C>ACA414246896DCXc.199G>T (p.Gly67Trp)
c.442G>T (p.Gly148Trp)
c.417G>T
n.439G>T
COSMIC COSMIC
Xg.111410200C>GCA414246897DCXc.199G>C (p.Gly67Arg)
c.442G>C (p.Gly148Arg)
c.417G>C
n.439G>C
Xg.111410200C>TCA414246898DCXc.199G>A (p.Gly67Arg)
c.442G>A (p.Gly148Arg)
c.417G>A
n.439G>A
Xg.111410201C>ACA414246899DCXc.198G>T (p.Lys66Asn)
c.441G>T (p.Lys147Asn)
c.416G>T
n.438G>T
Xg.111410201C>GCA414246900DCXc.198G>C (p.Lys66Asn)
c.441G>C (p.Lys147Asn)
c.416G>C
n.438G>C
Xg.111410201C>TCA518114608DCXc.198G>A (p.Lys66=)
c.441G>A (p.Lys147=)
c.416G>A
n.438G>A
Xg.111410202T>ACA414246901DCXc.197A>T (p.Lys66Met)
c.440A>T (p.Lys147Met)
c.415A>T
n.437A>T
Xg.111410202T>CCA414246902DCXc.197A>G (p.Lys66Arg)
c.440A>G (p.Lys147Arg)
c.415A>G
n.437A>G
Xg.111410202T>GCA414246903DCXc.197A>C (p.Lys66Thr)
c.440A>C (p.Lys147Thr)
c.415A>C
n.437A>C
Xg.111410203T>ACA414246905DCXc.196A>T (p.Lys66Ter)
c.439A>T (p.Lys147Ter)
c.414A>T
n.436A>T
Xg.111410203T>CCA414246906DCXc.196A>G (p.Lys66Glu)
c.439A>G (p.Lys147Glu)
c.414A>G
n.436A>G
Xg.111410203T>GCA414246904DCXc.196A>C (p.Lys66Gln)
c.439A>C (p.Lys147Gln)
c.414A>C
n.436A>C
Xg.111410204G>ACA518114613DCXc.195C>T (p.Phe65=)
c.438C>T (p.Phe146=)
c.413C>T
n.435C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.111410204G>CCA414246907DCXc.195C>G (p.Phe65Leu)
c.438C>G (p.Phe146Leu)
c.413C>G
n.435C>G
Xg.111410204G=CA2451700403DCXc.195C= (p.Phe65=)
c.438C= (p.Phe146=)
c.413C=
n.435C=
Xg.111410204G>TCA171881DCXc.195C>A (p.Phe65Leu)
c.438C>A (p.Phe146Leu)
c.413C>A
n.435C>A
ClinVar dbSNP COSMIC
Xg.111410205A>CCA414246908DCXc.194T>G (p.Phe65Cys)
c.437T>G (p.Phe146Cys)
c.412T>G
n.434T>G
Xg.111410205A>GCA414246909DCXc.194T>C (p.Phe65Ser)
c.437T>C (p.Phe146Ser)
c.412T>C
n.434T>C
Xg.111410205A>TCA414246910DCXc.194T>A (p.Phe65Tyr)
c.437T>A (p.Phe146Tyr)
c.412T>A
n.434T>A
COSMIC COSMIC
Xg.111410206A>CCA414246911DCXc.193T>G (p.Phe65Val)
c.436T>G (p.Phe146Val)
c.411T>G
n.433T>G
Xg.111410206A>GCA414246912DCXc.193T>C (p.Phe65Leu)
c.436T>C (p.Phe146Leu)
c.411T>C
n.433T>C
Xg.111410206A>TCA414246913DCXc.193T>A (p.Phe65Ile)
c.436T>A (p.Phe146Ile)
c.411T>A
n.433T>A
Xg.111410207G>ACA10493341DCXc.192C>T (p.Tyr64=)
c.435C>T (p.Tyr145=)
c.410C>T
n.432C>T
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.111410207G>CCA414246914DCXc.192C>G (p.Tyr64Ter)
c.435C>G (p.Tyr145Ter)
c.410C>G
n.432C>G
ClinVar dbSNP
Xg.111410207G=CA2451700404DCXc.192C= (p.Tyr64=)
c.435C= (p.Tyr145=)
c.410C=
n.432C=
Xg.111410207G>TCA414246915DCXc.192C>A (p.Tyr64Ter)
c.435C>A (p.Tyr145Ter)
c.410C>A
n.432C>A
Xg.111410208T>ACA414246916DCXc.191A>T (p.Tyr64Phe)
c.434A>T (p.Tyr145Phe)
c.409A>T
n.431A>T
Xg.111410208T>CCA171878DCXc.191A>G (p.Tyr64Cys)
c.434A>G (p.Tyr145Cys)
c.409A>G
n.431A>G
ClinVar dbSNP
Xg.111410208T>GCA414246917DCXc.191A>C (p.Tyr64Ser)
c.434A>C (p.Tyr145Ser)
c.409A>C
n.431A>C
Xg.111410208T=CA2451700405DCXc.191A= (p.Tyr64=)
c.434A= (p.Tyr145=)
c.409A=
n.431A=
Xg.111410209A=CA2451700406DCXc.190T= (p.Tyr64=)
c.433T= (p.Tyr145=)
c.408T=
n.430T=
Xg.111410209A>CCA414246918DCXc.190T>G (p.Tyr64Asp)
c.433T>G (p.Tyr145Asp)
c.408T>G
n.430T>G
ClinVar
Xg.111410209A>GCA414246920DCXc.190T>C (p.Tyr64His)
c.433T>C (p.Tyr145His)
c.408T>C
n.430T>C
Xg.111410209A>TCA414246919DCXc.190T>A (p.Tyr64Asn)
c.433T>A (p.Tyr145Asn)
c.408T>A
n.430T>A
ClinVar dbSNP
Xg.111410210G>ACA518114625DCXc.189C>T (p.Arg63=)
c.432C>T (p.Arg144=)
c.407C>T
n.429C>T
Xg.111410210G>CCA518114626DCXc.189C>G (p.Arg63=)
c.432C>G (p.Arg144=)
c.407C>G
n.429C>G
Xg.111410210G>TCA518114627DCXc.189C>A (p.Arg63=)
c.432C>A (p.Arg144=)
c.407C>A
n.429C>A
Xg.111410211C>ACA414246921DCXc.188G>T (p.Arg63Leu)
c.431G>T (p.Arg144Leu)
c.406G>T
n.428G>T
Xg.111410211C=CA2451700407DCXc.188G= (p.Arg63=)
c.431G= (p.Arg144=)
c.406G=
n.428G=
Xg.111410211C>GCA414246922DCXc.188G>C (p.Arg63Pro)
c.431G>C (p.Arg144Pro)
c.406G>C
n.428G>C
Xg.111410211C>TCA414246923DCXc.188G>A (p.Arg63His)
c.431G>A (p.Arg144His)
c.406G>A
n.428G>A
dbSNP gnomAD v2 COSMIC
Xg.111410212G>ACA171875DCXc.187C>T (p.Arg63Cys)
c.430C>T (p.Arg144Cys)
c.405C>T
n.427C>T
ClinVar dbSNP COSMIC COSMIC
Xg.111410212G>CCA414246924DCXc.187C>G (p.Arg63Gly)
c.430C>G (p.Arg144Gly)
c.405C>G
n.427C>G
Xg.111410212G=CA2451700408DCXc.187C= (p.Arg63=)
c.430C= (p.Arg144=)
c.405C=
n.427C=
Xg.111410212G>TCA414246925DCXc.187C>A (p.Arg63Ser)
c.430C>A (p.Arg144Ser)
c.405C>A
n.427C>A
COSMIC COSMIC
Xg.111410213G>ACA518114630DCXc.186C>T (p.Asp62=)
c.429C>T (p.Asp143=)
c.404C>T
n.426C>T
COSMIC COSMIC
Xg.111410213G>CCA414246926DCXc.186C>G (p.Asp62Glu)
c.429C>G (p.Asp143Glu)
c.404C>G
n.426C>G
Xg.111410213G>TCA414246927DCXc.186C>A (p.Asp62Glu)
c.429C>A (p.Asp143Glu)
c.404C>A
n.426C>A
COSMIC COSMIC
Xg.111410214T>ACA414246928DCXc.185A>T (p.Asp62Val)
c.428A>T (p.Asp143Val)
c.403A>T
n.425A>T
Xg.111410214T>CCA171872DCXc.185A>G (p.Asp62Gly)
c.428A>G (p.Asp143Gly)
c.403A>G
n.425A>G
ClinVar dbSNP
Xg.111410214T>GCA414246929DCXc.185A>C (p.Asp62Ala)
c.428A>C (p.Asp143Ala)
c.403A>C
n.425A>C
Xg.111410214T=CA2451700409DCXc.185A= (p.Asp62=)
c.428A= (p.Asp143=)
c.403A=
n.425A=
Xg.111410215C>ACA414246930DCXc.184G>T (p.Asp62Tyr)
c.427G>T (p.Asp143Tyr)
c.402G>T
n.424G>T
Xg.111410215C=CA2451700410DCXc.184G= (p.Asp62=)
c.427G= (p.Asp143=)
c.402G=
n.424G=
Xg.111410215C>GCA414246931DCXc.184G>C (p.Asp62His)
c.427G>C (p.Asp143His)
c.402G>C
n.424G>C
Xg.111410215C>TCA121589DCXc.184G>A (p.Asp62Asn)
c.427G>A (p.Asp143Asn)
c.402G>A
n.424G>A
ClinVar dbSNP COSMIC COSMIC
Xg.111410216C>ACA518114632DCXc.183G>T (p.Gly61=)
c.426G>T (p.Gly142=)
c.401G>T
n.423G>T
Xg.111410216C>GCA518114633DCXc.183G>C (p.Gly61=)
c.426G>C (p.Gly142=)
c.401G>C
n.423G>C
Xg.111410216C>TCA518114634DCXc.183G>A (p.Gly61=)
c.426G>A (p.Gly142=)
c.401G>A
n.423G>A
gnomAD v4
Xg.111410217C>ACA414246932DCXc.182G>T (p.Gly61Val)
c.425G>T (p.Gly142Val)
c.400G>T
n.422G>T
Xg.111410217C=CA2451700411DCXc.182G= (p.Gly61=)
c.425G= (p.Gly142=)
c.400G=
n.422G=
Xg.111410217C>GCA414246933DCXc.182G>C (p.Gly61Ala)
c.425G>C (p.Gly142Ala)
c.400G>C
n.422G>C
Xg.111410217C>TCA171869DCXc.182G>A (p.Gly61Glu)
c.425G>A (p.Gly142Glu)
c.400G>A
n.422G>A
ClinVar dbSNP
Xg.111410217_111410228delCA2580100215DCXc.171_182del (p.Phe57_Gly61delinsLeu)
c.414_425del (p.Phe138_Gly142delinsLeu)
c.389_400del
n.411_422del
ClinVar
Xg.111410218C>ACA414246934DCXc.181G>T (p.Gly61Trp)
c.424G>T (p.Gly142Trp)
c.399G>T
n.421G>T
Xg.111410218C>GCA414246935DCXc.181G>C (p.Gly61Arg)
c.424G>C (p.Gly142Arg)
c.399G>C
n.421G>C
Xg.111410218C>TCA414246936DCXc.181G>A (p.Gly61Arg)
c.424G>A (p.Gly142Arg)
c.399G>A
n.421G>A
Xg.111410219A>CCA414246937DCXc.180T>G (p.Asn60Lys)
c.423T>G (p.Asn141Lys)
c.398T>G
n.420T>G
Xg.111410219A>GCA518114640DCXc.180T>C (p.Asn60=)
c.423T>C (p.Asn141=)
c.398T>C
n.420T>C
gnomAD v4
Xg.111410219A>TCA414246938DCXc.180T>A (p.Asn60Lys)
c.423T>A (p.Asn141Lys)
c.398T>A
n.420T>A
Xg.111410220T>ACA414246939DCXc.179A>T (p.Asn60Ile)
c.422A>T (p.Asn141Ile)
c.397A>T
n.419A>T
Xg.111410220T>CCA414246940DCXc.179A>G (p.Asn60Ser)
c.422A>G (p.Asn141Ser)
c.397A>G
n.419A>G
gnomAD v4
Xg.111410220T>GCA414246941DCXc.179A>C (p.Asn60Thr)
c.422A>C (p.Asn141Thr)
c.397A>C
n.419A>C
Xg.111410221T>ACA414246942DCXc.178A>T (p.Asn60Tyr)
c.421A>T (p.Asn141Tyr)
c.396A>T
n.418A>T
Xg.111410221T>CCA414246943DCXc.178A>G (p.Asn60Asp)
c.421A>G (p.Asn141Asp)
c.396A>G
n.418A>G
Xg.111410221T>GCA414246944DCXc.178A>C (p.Asn60His)
c.421A>C (p.Asn141His)
c.396A>C
n.418A>C
Xg.111410222G>ACA518114642DCXc.177C>T (p.Arg59=)
c.420C>T (p.Arg140=)
c.395C>T
n.417C>T
Xg.111410222G>CCA518114643DCXc.177C>G (p.Arg59=)
c.420C>G (p.Arg140=)
c.395C>G
n.417C>G
Xg.111410222G>TCA518114644DCXc.177C>A (p.Arg59=)
c.420C>A (p.Arg140=)
c.395C>A
n.417C>A
Xg.111410223C>ACA121596DCXc.176G>T (p.Arg59Leu)
c.419G>T (p.Arg140Leu)
c.394G>T
n.416G>T
ClinVar dbSNP
Xg.111410223C=CA2451700412DCXc.176G= (p.Arg59=)
c.419G= (p.Arg140=)
c.394G=
n.416G=
Xg.111410223C>GCA414246945DCXc.176G>C (p.Arg59Pro)
c.419G>C (p.Arg140Pro)
c.394G>C
n.416G>C
Xg.111410223C>TCA171866DCXc.176G>A (p.Arg59His)
c.419G>A (p.Arg140His)
c.394G>A
n.416G>A
ClinVar dbSNP COSMIC
Xg.111410224G>ACA414246946DCXc.175C>T (p.Arg59Cys)
c.418C>T (p.Arg140Cys)
c.393C>T
n.415C>T
Xg.111410224G>CCA414246947DCXc.175C>G (p.Arg59Gly)
c.418C>G (p.Arg140Gly)
c.393C>G
n.415C>G
Xg.111410224G>TCA414246948DCXc.175C>A (p.Arg59Ser)
c.418C>A (p.Arg140Ser)
c.393C>A
n.415C>A
Xg.111410225G>ACA518114648DCXc.174C>T (p.Tyr58=)
c.417C>T (p.Tyr139=)
c.392C>T
n.414C>T
gnomAD v4
Xg.111410225G>CCA414246949DCXc.174C>G (p.Tyr58Ter)
c.417C>G (p.Tyr139Ter)
c.392C>G
n.414C>G
Xg.111410225G>TCA414246950DCXc.174C>A (p.Tyr58Ter)
c.417C>A (p.Tyr139Ter)
c.392C>A
n.414C>A
Xg.111410226T>ACA414246951DCXc.173A>T (p.Tyr58Phe)
c.416A>T (p.Tyr139Phe)
c.391A>T
n.413A>T
Xg.111410226T>CCA414246952DCXc.173A>G (p.Tyr58Cys)
c.416A>G (p.Tyr139Cys)
c.391A>G
n.413A>G
Xg.111410226T>GCA414246953DCXc.173A>C (p.Tyr58Ser)
c.416A>C (p.Tyr139Ser)
c.391A>C
n.413A>C
Xg.111410227A>CCA414246954DCXc.172T>G (p.Tyr58Asp)
c.415T>G (p.Tyr139Asp)
c.390T>G
n.412T>G
Xg.111410227A>GCA414246955DCXc.172T>C (p.Tyr58His)
c.415T>C (p.Tyr139His)
c.390T>C
n.412T>C
Xg.111410227A>TCA414246956DCXc.172T>A (p.Tyr58Asn)
c.415T>A (p.Tyr139Asn)
c.390T>A
n.412T>A
Xg.111410228G>ACA518114652DCXc.171C>T (p.Phe57=)
c.414C>T (p.Phe138=)
c.389C>T
n.411C>T
Xg.111410228G>CCA414246957DCXc.171C>G (p.Phe57Leu)
c.414C>G (p.Phe138Leu)
c.389C>G
n.411C>G
Xg.111410228G>TCA414246958DCXc.171C>A (p.Phe57Leu)
c.414C>A (p.Phe138Leu)
c.389C>A
n.411C>A
Xg.111410229A=CA2451700413DCXc.170T= (p.Phe57=)
c.413T= (p.Phe138=)
c.388T=
n.410T=
Xg.111410229A>CCA171863DCXc.170T>G (p.Phe57Cys)
c.413T>G (p.Phe138Cys)
c.388T>G
n.410T>G
ClinVar dbSNP
Xg.111410229A>GCA414246960DCXc.170T>C (p.Phe57Ser)
c.413T>C (p.Phe138Ser)
c.388T>C
n.410T>C
Xg.111410229A>TCA414246959DCXc.170T>A (p.Phe57Tyr)
c.413T>A (p.Phe138Tyr)
c.388T>A
n.410T>A
Xg.111410230A>CCA414246961DCXc.169T>G (p.Phe57Val)
c.412T>G (p.Phe138Val)
c.387T>G
n.409T>G
Xg.111410230A>GCA414246963DCXc.169T>C (p.Phe57Leu)
c.412T>C (p.Phe138Leu)
c.387T>C
n.409T>C
Xg.111410230A>TCA414246962DCXc.169T>A (p.Phe57Ile)
c.412T>A (p.Phe138Ile)
c.387T>A
n.409T>A
Xg.111410231A>CCA518114654DCXc.168T>G (p.Arg56=)
c.411T>G (p.Arg137=)
c.386T>G
n.408T>G
Xg.111410231A>GCA518114655DCXc.168T>C (p.Arg56=)
c.411T>C (p.Arg137=)
c.386T>C
n.408T>C
Xg.111410231A>TCA518114656DCXc.168T>A (p.Arg56=)
c.411T>A (p.Arg137=)
c.386T>A
n.408T>A
Xg.111410232C>ACA414246964DCXc.167G>T (p.Arg56Leu)
c.410G>T (p.Arg137Leu)
c.385G>T
n.407G>T
ClinVar dbSNP
Xg.111410232C=CA2451700414DCXc.167G= (p.Arg56=)
c.410G= (p.Arg137=)
c.385G=
n.407G=
Xg.111410232C>GCA171860DCXc.167G>C (p.Arg56Pro)
c.410G>C (p.Arg137Pro)
c.385G>C
n.407G>C
ClinVar dbSNP
Xg.111410232C>TCA414246965DCXc.167G>A (p.Arg56His)
c.410G>A (p.Arg137His)
c.385G>A
n.407G>A
gnomAD v4 COSMIC COSMIC
Xg.111410233G>ACA414246966DCXc.166C>T (p.Arg56Cys)
c.409C>T (p.Arg137Cys)
c.384C>T
n.406C>T
Xg.111410233G>CCA414246967DCXc.166C>G (p.Arg56Gly)
c.409C>G (p.Arg137Gly)
c.384C>G
n.406C>G
Xg.111410233G>TCA414246968DCXc.166C>A (p.Arg56Ser)
c.409C>A (p.Arg137Ser)
c.384C>A
n.406C>A
Xg.111410234T>ACA518114658DCXc.165A>T (p.Val55=)
c.408A>T (p.Val136=)
c.383A>T
n.405A>T
Xg.111410234T>CCA518114659DCXc.165A>G (p.Val55=)
c.408A>G (p.Val136=)
c.383A>G
n.405A>G
Xg.111410234T>GCA518114660DCXc.165A>C (p.Val55=)
c.408A>C (p.Val136=)
c.383A>C
n.405A>C
Xg.111410235A>CCA414246969DCXc.164T>G (p.Val55Gly)
c.407T>G (p.Val136Gly)
c.382T>G
n.404T>G
Xg.111410235A>GCA414246970DCXc.164T>C (p.Val55Ala)
c.407T>C (p.Val136Ala)
c.382T>C
n.404T>C
Xg.111410235A>TCA414246971DCXc.164T>A (p.Val55Glu)
c.407T>A (p.Val136Glu)
c.382T>A
n.404T>A
Xg.111410236C>ACA414246974DCXc.163G>T (p.Val55Leu)
c.406G>T (p.Val136Leu)
c.381G>T
n.403G>T
dbSNP gnomAD v2
Xg.111410236C=CA2451700415DCXc.163G= (p.Val55=)
c.406G= (p.Val136=)
c.381G=
n.403G=
Xg.111410236C>GCA414246972DCXc.163G>C (p.Val55Leu)
c.406G>C (p.Val136Leu)
c.381G>C
n.403G>C
Xg.111410236C>TCA414246973DCXc.163G>A (p.Val55Ile)
c.406G>A (p.Val136Ile)
c.381G>A
n.403G>A
Xg.111410237C>ACA414246975DCXc.162G>T (p.Lys54Asn)
c.405G>T (p.Lys135Asn)
c.380G>T
n.402G>T
Xg.111410237C=CA2451700416DCXc.162G= (p.Lys54=)
c.405G= (p.Lys135=)
c.380G=
n.402G=
Xg.111410237C>GCA414246976DCXc.162G>C (p.Lys54Asn)
c.405G>C (p.Lys135Asn)
c.380G>C
n.402G>C
ClinVar dbSNP
Xg.111410237C>TCA518114663DCXc.162G>A (p.Lys54=)
c.405G>A (p.Lys135=)
c.380G>A
n.402G>A
Xg.111410238T>ACA414246977DCXc.161A>T (p.Lys54Met)
c.404A>T (p.Lys135Met)
c.379A>T
n.401A>T
Xg.111410238T>CCA414246978DCXc.161A>G (p.Lys54Arg)
c.404A>G (p.Lys135Arg)
c.379A>G
n.401A>G
Xg.111410238T>GCA414246979DCXc.161A>C (p.Lys54Thr)
c.404A>C (p.Lys135Thr)
c.379A>C
n.401A>C
Xg.111410239T>ACA414246980DCXc.160A>T (p.Lys54Ter)
c.403A>T (p.Lys135Ter)
c.378A>T
n.400A>T
Xg.111410239T>CCA414246982DCXc.160A>G (p.Lys54Glu)
c.403A>G (p.Lys135Glu)
c.378A>G
n.400A>G
Xg.111410239T>GCA414246981DCXc.160A>C (p.Lys54Gln)
c.403A>C (p.Lys135Gln)
c.378A>C
n.400A>C
Xg.111410240C>ACA414246983DCXc.159G>T (p.Lys53Asn)
c.402G>T (p.Lys134Asn)
c.377G>T
n.399G>T
Xg.111410240C>GCA414246984DCXc.159G>C (p.Lys53Asn)
c.402G>C (p.Lys134Asn)
c.377G>C
n.399G>C
Xg.111410240C>TCA518114665DCXc.159G>A (p.Lys53=)
c.402G>A (p.Lys134=)
c.377G>A
n.399G>A
Xg.111410241T>ACA414246985DCXc.158A>T (p.Lys53Met)
c.401A>T (p.Lys134Met)
c.376A>T
n.398A>T
Xg.111410241T>CCA414246986DCXc.158A>G (p.Lys53Arg)
c.401A>G (p.Lys134Arg)
c.376A>G
n.398A>G
ClinVar dbSNP gnomAD v4
Xg.111410241T>GCA414246987DCXc.158A>C (p.Lys53Thr)
c.401A>C (p.Lys134Thr)
c.376A>C
n.398A>C
Xg.111410241T=CA2451700417DCXc.158A= (p.Lys53=)
c.401A= (p.Lys134=)
c.376A=
n.398A=
Xg.111410242T>ACA414246988DCXc.157A>T (p.Lys53Ter)
c.400A>T (p.Lys134Ter)
c.375A>T
n.397A>T
Xg.111410242T>CCA414246989DCXc.157A>G (p.Lys53Glu)
c.400A>G (p.Lys134Glu)
c.375A>G
n.397A>G
Xg.111410242T>GCA414246990DCXc.157A>C (p.Lys53Gln)
c.400A>C (p.Lys134Gln)
c.375A>C
n.397A>C
Xg.111410243G>ACA518114667DCXc.156C>T (p.Ala52=)
c.399C>T (p.Ala133=)
c.374C>T
n.396C>T
Xg.111410243G>CCA518114668DCXc.156C>G (p.Ala52=)
c.399C>G (p.Ala133=)
c.374C>G
n.396C>G
Xg.111410243G>TCA518114669DCXc.156C>A (p.Ala52=)
c.399C>A (p.Ala133=)
c.374C>A
n.396C>A
COSMIC
Xg.111410244G>ACA414246991DCXc.155C>T (p.Ala52Val)
c.398C>T (p.Ala133Val)
c.373C>T
n.395C>T
Xg.111410244G>CCA414246992DCXc.155C>G (p.Ala52Gly)
c.398C>G (p.Ala133Gly)
c.373C>G
n.395C>G
Xg.111410244G=CA2451700419DCXc.155C= (p.Ala52=)
c.398C= (p.Ala133=)
c.373C=
n.395C=
Xg.111410244G>TCA414246993DCXc.155C>A (p.Ala52Asp)
c.398C>A (p.Ala133Asp)
c.373C>A
n.395C>A
ClinVar dbSNP
Xg.111410244_111410248delinsGCTTTCA2451700418DCXc.151_155delinsAAAGC (p.Lys51=)
c.394_398delinsAAAGC (p.Lys132=)
c.369_373delinsAAAGC
n.391_395delinsAAAGC
Xg.111410245C>ACA414246994DCXc.154G>T (p.Ala52Ser)
c.397G>T (p.Ala133Ser)
c.372G>T
n.394G>T
Xg.111410245C>GCA414246995DCXc.154G>C (p.Ala52Pro)
c.397G>C (p.Ala133Pro)
c.372G>C
n.394G>C
Xg.111410245C>TCA414246996DCXc.154G>A (p.Ala52Thr)
c.397G>A (p.Ala133Thr)
c.372G>A
n.394G>A
Xg.111410248_111410251delCA171859DCXc.151_154del (p.Lys51ProfsTer?)
c.394_397del (p.Lys132ProfsTer?)
c.369_372del
n.391_394del
ClinVar dbSNP
Xg.111410246T>ACA414246997DCXc.153A>T (p.Lys51Asn)
c.396A>T (p.Lys132Asn)
c.371A>T
n.393A>T
Xg.111410246T>CCA518114671DCXc.153A>G (p.Lys51=)
c.396A>G (p.Lys132=)
c.371A>G
n.393A>G
Xg.111410246T>GCA414246998DCXc.153A>C (p.Lys51Asn)
c.396A>C (p.Lys132Asn)
c.371A>C
n.393A>C
Xg.111410247T>ACA414246999DCXc.152A>T (p.Lys51Ile)
c.395A>T (p.Lys132Ile)
c.370A>T
n.392A>T
Xg.111410247T>CCA414247000DCXc.152A>G (p.Lys51Arg)
c.395A>G (p.Lys132Arg)
c.370A>G
n.392A>G
Xg.111410247T>GCA414247001DCXc.152A>C (p.Lys51Thr)
c.395A>C (p.Lys132Thr)
c.370A>C
n.392A>C
Xg.111410248T>ACA414247002DCXc.151A>T (p.Lys51Ter)
c.394A>T (p.Lys132Ter)
c.369A>T
n.391A>T
Xg.111410248T>CCA414247003DCXc.151A>G (p.Lys51Glu)
c.394A>G (p.Lys132Glu)
c.369A>G
n.391A>G
Xg.111410248T>GCA414247004DCXc.151A>C (p.Lys51Gln)
c.394A>C (p.Lys132Gln)
c.369A>C
n.391A>C
Xg.111410249C>ACA171856DCXc.150G>T (p.Lys50Asn)
c.393G>T (p.Lys131Asn)
c.368G>T
n.390G>T
ClinVar dbSNP
Xg.111410249C=CA2451700420DCXc.150G= (p.Lys50=)
c.393G= (p.Lys131=)
c.368G=
n.390G=
Xg.111410249C>GCA414247005DCXc.150G>C (p.Lys50Asn)
c.393G>C (p.Lys131Asn)
c.368G>C
n.390G>C
Xg.111410249C>TCA518114675DCXc.150G>A (p.Lys50=)
c.393G>A (p.Lys131=)
c.368G>A
n.390G>A
gnomAD v4
Xg.111410250T>ACA414247008DCXc.149A>T (p.Lys50Met)
c.392A>T (p.Lys131Met)
c.367A>T
n.389A>T
Xg.111410250T>CCA414247006DCXc.149A>G (p.Lys50Arg)
c.392A>G (p.Lys131Arg)
c.367A>G
n.389A>G
Xg.111410250T>GCA414247007DCXc.149A>C (p.Lys50Thr)
c.392A>C (p.Lys131Thr)
c.367A>C
n.389A>C
Xg.111410251T>ACA414247009DCXc.148A>T (p.Lys50Ter)
c.391A>T (p.Lys131Ter)
c.366A>T
n.388A>T
Xg.111410251T>CCA414247010DCXc.148A>G (p.Lys50Glu)
c.391A>G (p.Lys131Glu)
c.366A>G
n.388A>G
Xg.111410251T>GCA414247011DCXc.148A>C (p.Lys50Gln)
c.391A>C (p.Lys131Gln)
c.366A>C
n.388A>C
Xg.111410252C>ACA414247012DCXc.147G>T (p.Glu49Asp)
c.390G>T (p.Glu130Asp)
c.365G>T
n.387G>T
Xg.111410252C>GCA414247013DCXc.147G>C (p.Glu49Asp)
c.390G>C (p.Glu130Asp)
c.365G>C
n.387G>C
Xg.111410252C>TCA518114679DCXc.147G>A (p.Glu49=)
c.390G>A (p.Glu130=)
c.365G>A
n.387G>A
Xg.111410253T>ACA414247014DCXc.146A>T (p.Glu49Val)
c.389A>T (p.Glu130Val)
c.364A>T
n.386A>T
Xg.111410253T>CCA414247015DCXc.146A>G (p.Glu49Gly)
c.389A>G (p.Glu130Gly)
c.364A>G
n.386A>G
Xg.111410253T>GCA414247016DCXc.146A>C (p.Glu49Ala)
c.389A>C (p.Glu130Ala)
c.364A>C
n.386A>C
Xg.111410254C>ACA414247017DCXc.145G>T (p.Glu49Ter)
c.388G>T (p.Glu130Ter)
c.363G>T
n.385G>T
Xg.111410254C>GCA414247018DCXc.145G>C (p.Glu49Gln)
c.388G>C (p.Glu130Gln)
c.363G>C
n.385G>C
Xg.111410254C>TCA414247019DCXc.145G>A (p.Glu49Lys)
c.388G>A (p.Glu130Lys)
c.363G>A
n.385G>A
Xg.111410255A>CCA414247021DCXc.144T>G (p.Asn48Lys)
c.387T>G (p.Asn129Lys)
c.362T>G
n.384T>G
gnomAD v4
Xg.111410255A>GCA518114683DCXc.144T>C (p.Asn48=)
c.387T>C (p.Asn129=)
c.362T>C
n.384T>C
Xg.111410255A>TCA414247020DCXc.144T>A (p.Asn48Lys)
c.387T>A (p.Asn129Lys)
c.362T>A
n.384T>A
Xg.111410256T>ACA414247022DCXc.143A>T (p.Asn48Ile)
c.386A>T (p.Asn129Ile)
c.361A>T
n.383A>T
Xg.111410256T>CCA414247023DCXc.143A>G (p.Asn48Ser)
c.386A>G (p.Asn129Ser)
c.361A>G
n.383A>G
Xg.111410256T>GCA414247024DCXc.143A>C (p.Asn48Thr)
c.386A>C (p.Asn129Thr)
c.361A>C
n.383A>C
Xg.111410257T>ACA414247025DCXc.142A>T (p.Asn48Tyr)
c.385A>T (p.Asn129Tyr)
c.360A>T
n.382A>T
Xg.111410257T>CCA414247026DCXc.142A>G (p.Asn48Asp)
c.385A>G (p.Asn129Asp)
c.360A>G
n.382A>G
dbSNP gnomAD v3 gnomAD v4
Xg.111410257T>GCA414247027DCXc.142A>C (p.Asn48His)
c.385A>C (p.Asn129His)
c.360A>C
n.382A>C
gnomAD v4
Xg.111410257T=CA2451700421DCXc.142A= (p.Asn48=)
c.385A= (p.Asn129=)
c.360A=
n.382A=
Xg.111410258A>CCA414247029DCXc.141T>G (p.Ser47Arg)
c.384T>G (p.Ser128Arg)
c.359T>G
n.381T>G
Xg.111410258A>GCA518114687DCXc.141T>C (p.Ser47=)
c.384T>C (p.Ser128=)
c.359T>C
n.381T>C
gnomAD v4
Xg.111410258A>TCA414247028DCXc.141T>A (p.Ser47Arg)
c.384T>A (p.Ser128Arg)
c.359T>A
n.381T>A
Xg.111410259C>ACA414247030DCXc.140G>T (p.Ser47Ile)
c.383G>T (p.Ser128Ile)
c.358G>T
n.380G>T
Xg.111410259C>GCA414247031DCXc.140G>C (p.Ser47Thr)
c.383G>C (p.Ser128Thr)
c.358G>C
n.380G>C
Xg.111410259C>TCA414247032DCXc.140G>A (p.Ser47Asn)
c.383G>A (p.Ser128Asn)
c.358G>A
n.380G>A
Xg.111410260T>ACA414247033DCXc.139A>T (p.Ser47Cys)
c.382A>T (p.Ser128Cys)
c.357A>T
n.379A>T
Xg.111410260T>CCA414247034DCXc.139A>G (p.Ser47Gly)
c.382A>G (p.Ser128Gly)
c.357A>G
n.379A>G
Xg.111410260T>GCA121600DCXc.139A>C (p.Ser47Arg)
c.382A>C (p.Ser128Arg)
c.357A>C
n.379A>C
ClinVar dbSNP
Xg.111410260T=CA2451700422DCXc.139A= (p.Ser47=)
c.382A= (p.Ser128=)
c.357A=
n.379A=
Xg.111410261C>ACA518114688DCXc.138G>T (p.Leu46=)
c.381G>T (p.Leu127=)
c.356G>T
n.378G>T
Xg.111410261C>GCA518114689DCXc.138G>C (p.Leu46=)
c.381G>C (p.Leu127=)
c.356G>C
n.378G>C
Xg.111410261C>TCA518114690DCXc.138G>A (p.Leu46=)
c.381G>A (p.Leu127=)
c.356G>A
n.378G>A
Xg.111410262A>CCA414247037DCXc.137T>G (p.Leu46Arg)
c.380T>G (p.Leu127Arg)
c.355T>G
n.377T>G
Xg.111410262A>GCA414247035DCXc.137T>C (p.Leu46Pro)
c.380T>C (p.Leu127Pro)
c.355T>C
n.377T>C
Xg.111410262A>TCA414247036DCXc.137T>A (p.Leu46Gln)
c.380T>A (p.Leu127Gln)
c.355T>A
n.377T>A
Xg.111410263G>ACA518114692DCXc.136C>T (p.Leu46=)
c.379C>T (p.Leu127=)
c.354C>T
n.376C>T
Xg.111410263G>CCA414247038DCXc.136C>G (p.Leu46Val)
c.379C>G (p.Leu127Val)
c.354C>G
n.376C>G
Xg.111410263G>TCA414247039DCXc.136C>A (p.Leu46Met)
c.379C>A (p.Leu127Met)
c.354C>A
n.376C>A
gnomAD v4
Xg.111410264T>ACA518114693DCXc.135A>T (p.Ala45=)
c.378A>T (p.Ala126=)
c.353A>T
n.375A>T
Xg.111410264T>CCA518114694DCXc.135A>G (p.Ala45=)
c.378A>G (p.Ala126=)
c.353A>G
n.375A>G
dbSNP gnomAD v2 gnomAD v4
Xg.111410264T>GCA518114695DCXc.135A>C (p.Ala45=)
c.378A>C (p.Ala126=)
c.353A>C
n.375A>C
Xg.111410264T=CA2451700423DCXc.135A= (p.Ala45=)
c.378A= (p.Ala126=)
c.353A=
n.375A=

Number of alleles fetched