Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.70033433A=CA2435981295EDAc.829A= (p.Ile277=)
c.820A= (p.Ile274=)
c.433A= (p.Ile145=)
Xg.70033433A>CCA413448828EDAc.829A>C (p.Ile277Leu)
c.820A>C (p.Ile274Leu)
c.433A>C (p.Ile145Leu)
 gnomAD v4
Xg.70033433A>GCA413448829EDAc.829A>G (p.Ile277Val)
c.820A>G (p.Ile274Val)
c.433A>G (p.Ile145Val)
 dbSNP gnomAD v2 gnomAD v4
Xg.70033433A>TCA413448830EDAc.829A>T (p.Ile277Phe)
c.820A>T (p.Ile274Phe)
c.433A>T (p.Ile145Phe)
Xg.70033434T>ACA413448831EDAc.830T>A (p.Ile277Asn)
c.821T>A (p.Ile274Asn)
c.434T>A (p.Ile145Asn)
 dbSNP gnomAD v2 gnomAD v4
Xg.70033434T>CCA413448833EDAc.830T>C (p.Ile277Thr)
c.821T>C (p.Ile274Thr)
c.434T>C (p.Ile145Thr)
Xg.70033434T>GCA413448832EDAc.830T>G (p.Ile277Ser)
c.821T>G (p.Ile274Ser)
c.434T>G (p.Ile145Ser)
Xg.70033434T=CA2435981296EDAc.830T= (p.Ile277=)
c.821T= (p.Ile274=)
c.434T= (p.Ile145=)
Xg.70033435delCA2695234454EDAc.831del (p.Thr278LeufsTer2)
c.822del (p.Thr275LeufsTer2)
c.435del (p.Thr146LeufsTer2)
Xg.70033435C>ACA517013937EDAc.831C>A (p.Ile277=)
c.822C>A (p.Ile274=)
c.435C>A (p.Ile145=)
Xg.70033435C>GCA413448834EDAc.831C>G (p.Ile277Met)
c.822C>G (p.Ile274Met)
c.435C>G (p.Ile145Met)
Xg.70033435C>TCA517013941EDAc.831C>T (p.Ile277=)
c.822C>T (p.Ile274=)
c.435C>T (p.Ile145=)
 ClinVar
Xg.70033436A>CCA413448835EDAc.832A>C (p.Thr278Pro)
c.823A>C (p.Thr275Pro)
c.436A>C (p.Thr146Pro)
Xg.70033436A>GCA413448836EDAc.832A>G (p.Thr278Ala)
c.823A>G (p.Thr275Ala)
c.436A>G (p.Thr146Ala)
 gnomAD v4
Xg.70033436A>TCA413448837EDAc.832A>T (p.Thr278Ser)
c.823A>T (p.Thr275Ser)
c.436A>T (p.Thr146Ser)
Xg.70033437C>ACA413448839EDAc.833C>A (p.Thr278Asn)
c.824C>A (p.Thr275Asn)
c.437C>A (p.Thr146Asn)
Xg.70033437C=CA2435981297EDAc.833C= (p.Thr278=)
c.824C= (p.Thr275=)
c.437C= (p.Thr146=)
Xg.70033437C>GCA10439015EDAc.833C>G (p.Thr278Ser)
c.824C>G (p.Thr275Ser)
c.437C>G (p.Thr146Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70033437C>TCA413448838EDAc.833C>T (p.Thr278Ile)
c.824C>T (p.Thr275Ile)
c.437C>T (p.Thr146Ile)
Xg.70033438T>ACA517013951EDAc.834T>A (p.Thr278=)
c.825T>A (p.Thr275=)
c.438T>A (p.Thr146=)
Xg.70033438T>CCA10439016EDAc.834T>C (p.Thr278=)
c.825T>C (p.Thr275=)
c.438T>C (p.Thr146=)
 dbSNP ExAC
Xg.70033438T>GCA10439017EDAc.834T>G (p.Thr278=)
c.825T>G (p.Thr275=)
c.438T>G (p.Thr146=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70033438T=CA2435981298EDAc.834T= (p.Thr278=)
c.825T= (p.Thr275=)
c.438T= (p.Thr146=)
Xg.70033439A>CCA413448840EDAc.835A>C (p.Met279Leu)
c.826A>C (p.Met276Leu)
c.439A>C (p.Met147Leu)
Xg.70033439A>GCA413448842EDAc.835A>G (p.Met279Val)
c.826A>G (p.Met276Val)
c.439A>G (p.Met147Val)
 gnomAD v4
Xg.70033439A>TCA413448841EDAc.835A>T (p.Met279Leu)
c.826A>T (p.Met276Leu)
c.439A>T (p.Met147Leu)
Xg.70033440T>ACA413448843EDAc.836T>A (p.Met279Lys)
c.827T>A (p.Met276Lys)
c.440T>A (p.Met147Lys)
Xg.70033440T>CCA413448845EDAc.836T>C (p.Met279Thr)
c.827T>C (p.Met276Thr)
c.440T>C (p.Met147Thr)
Xg.70033440T>GCA413448844EDAc.836T>G (p.Met279Arg)
c.827T>G (p.Met276Arg)
c.440T>G (p.Met147Arg)
 ClinVar
Xg.70033441G>ACA413448846EDAc.837G>A (p.Met279Ile)
c.828G>A (p.Met276Ile)
c.441G>A (p.Met147Ile)
 ClinVar
Xg.70033441G>CCA413448847EDAc.837G>C (p.Met279Ile)
c.828G>C (p.Met276Ile)
c.441G>C (p.Met147Ile)
Xg.70033441G>TCA413448848EDAc.837G>T (p.Met279Ile)
c.828G>T (p.Met276Ile)
c.441G>T (p.Met147Ile)
Xg.70033442A>CCA413448849EDAc.838A>C (p.Asn280His)
c.829A>C (p.Asn277His)
c.442A>C (p.Asn148His)
Xg.70033442A>GCA413448850EDAc.838A>G (p.Asn280Asp)
c.829A>G (p.Asn277Asp)
c.442A>G (p.Asn148Asp)
Xg.70033442A>TCA413448851EDAc.838A>T (p.Asn280Tyr)
c.829A>T (p.Asn277Tyr)
c.442A>T (p.Asn148Tyr)
Xg.70033443A>CCA413448852EDAc.839A>C (p.Asn280Thr)
c.830A>C (p.Asn277Thr)
c.443A>C (p.Asn148Thr)
Xg.70033443A>GCA413448853EDAc.839A>G (p.Asn280Ser)
c.830A>G (p.Asn277Ser)
c.443A>G (p.Asn148Ser)
Xg.70033443A>TCA413448854EDAc.839A>T (p.Asn280Ile)
c.830A>T (p.Asn277Ile)
c.443A>T (p.Asn148Ile)
Xg.70033444C>ACA413448855EDAc.840C>A (p.Asn280Lys)
c.831C>A (p.Asn277Lys)
c.444C>A (p.Asn148Lys)
Xg.70033444C>GCA413448856EDAc.840C>G (p.Asn280Lys)
c.831C>G (p.Asn277Lys)
c.444C>G (p.Asn148Lys)
Xg.70033444C>TCA517013977EDAc.840C>T (p.Asn280=)
c.831C>T (p.Asn277=)
c.444C>T (p.Asn148=)
Xg.70033445C>ACA413448859EDAc.841C>A (p.Pro281Thr)
c.832C>A (p.Pro278Thr)
c.445C>A (p.Pro149Thr)
Xg.70033445C>GCA413448858EDAc.841C>G (p.Pro281Ala)
c.832C>G (p.Pro278Ala)
c.445C>G (p.Pro149Ala)
Xg.70033445C>TCA413448857EDAc.841C>T (p.Pro281Ser)
c.832C>T (p.Pro278Ser)
c.445C>T (p.Pro149Ser)
Xg.70033446C>ACA413448860EDAc.842C>A (p.Pro281His)
c.833C>A (p.Pro278His)
c.446C>A (p.Pro149His)
Xg.70033446C>GCA413448861EDAc.842C>G (p.Pro281Arg)
c.833C>G (p.Pro278Arg)
c.446C>G (p.Pro149Arg)
Xg.70033446C>TCA413448862EDAc.842C>T (p.Pro281Leu)
c.833C>T (p.Pro278Leu)
c.446C>T (p.Pro149Leu)
Xg.70033447C>ACA517013985EDAc.843C>A (p.Pro281=)
c.834C>A (p.Pro278=)
c.447C>A (p.Pro149=)
Xg.70033447C>GCA517013987EDAc.843C>G (p.Pro281=)
c.834C>G (p.Pro278=)
c.447C>G (p.Pro149=)
Xg.70033447C>TCA517013989EDAc.843C>T (p.Pro281=)
c.834C>T (p.Pro278=)
c.447C>T (p.Pro149=)
Xg.70033448A>CCA413448863EDAc.844A>C (p.Lys282Gln)
c.835A>C (p.Lys279Gln)
c.448A>C (p.Lys150Gln)
Xg.70033448A>GCA413448864EDAc.844A>G (p.Lys282Glu)
c.835A>G (p.Lys279Glu)
c.448A>G (p.Lys150Glu)
Xg.70033448A>TCA413448865EDAc.844A>T (p.Lys282Ter)
c.835A>T (p.Lys279Ter)
c.448A>T (p.Lys150Ter)
Xg.70033449A=CA2435981299EDAc.845A= (p.Lys282=)
c.836A= (p.Lys279=)
c.449A= (p.Lys150=)
Xg.70033449A>CCA413448866EDAc.845A>C (p.Lys282Thr)
c.836A>C (p.Lys279Thr)
c.449A>C (p.Lys150Thr)
Xg.70033449A>GCA10439018EDAc.845A>G (p.Lys282Arg)
c.836A>G (p.Lys279Arg)
c.449A>G (p.Lys150Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70033449A>TCA413448867EDAc.845A>T (p.Lys282Met)
c.836A>T (p.Lys279Met)
c.449A>T (p.Lys150Met)
Xg.70033450G>ACA517014014EDAc.846G>A (p.Lys282=)
c.837G>A (p.Lys279=)
c.450G>A (p.Lys150=)
Xg.70033450G>CCA413448868EDAc.846G>C (p.Lys282Asn)
c.837G>C (p.Lys279Asn)
c.450G>C (p.Lys150Asn)
Xg.70033450G>TCA413448869EDAc.846G>T (p.Lys282Asn)
c.837G>T (p.Lys279Asn)
c.450G>T (p.Lys150Asn)
Xg.70033451G>ACA413448872EDAc.847G>A (p.Val283Met)
c.838G>A (p.Val280Met)
c.451G>A (p.Val151Met)
 dbSNP
Xg.70033451G>CCA413448871EDAc.847G>C (p.Val283Leu)
c.838G>C (p.Val280Leu)
c.451G>C (p.Val151Leu)
Xg.70033451G=CA2435981300EDAc.847G= (p.Val283=)
c.838G= (p.Val280=)
c.451G= (p.Val151=)
Xg.70033451G>TCA413448870EDAc.847G>T (p.Val283Leu)
c.838G>T (p.Val280Leu)
c.451G>T (p.Val151Leu)
 ClinVar
Xg.70033452T>ACA413448873EDAc.848T>A (p.Val283Glu)
c.839T>A (p.Val280Glu)
c.452T>A (p.Val151Glu)
Xg.70033452T>CCA413448874EDAc.848T>C (p.Val283Ala)
c.839T>C (p.Val280Ala)
c.452T>C (p.Val151Ala)
Xg.70033452T>GCA413448875EDAc.848T>G (p.Val283Gly)
c.839T>G (p.Val280Gly)
c.452T>G (p.Val151Gly)
Xg.70033453G>ACA517014028EDAc.849G>A (p.Val283=)
c.840G>A (p.Val280=)
c.453G>A (p.Val151=)
Xg.70033453G>CCA517014029EDAc.849G>C (p.Val283=)
c.840G>C (p.Val280=)
c.453G>C (p.Val151=)
Xg.70033453G>TCA517014032EDAc.849G>T (p.Val283=)
c.840G>T (p.Val280=)
c.453G>T (p.Val151=)
Xg.70033454T>ACA413448876EDAc.850T>A (p.Phe284Ile)
c.841T>A (p.Phe281Ile)
c.454T>A (p.Phe152Ile)
Xg.70033454T>CCA413448877EDAc.850T>C (p.Phe284Leu)
c.841T>C (p.Phe281Leu)
c.454T>C (p.Phe152Leu)
Xg.70033454T>GCA413448878EDAc.850T>G (p.Phe284Val)
c.841T>G (p.Phe281Val)
c.454T>G (p.Phe152Val)
Xg.70033455T>ACA413448879EDAc.851T>A (p.Phe284Tyr)
c.842T>A (p.Phe281Tyr)
c.455T>A (p.Phe152Tyr)
Xg.70033455T>CCA413448880EDAc.851T>C (p.Phe284Ser)
c.842T>C (p.Phe281Ser)
c.455T>C (p.Phe152Ser)
Xg.70033455T>GCA413448881EDAc.851T>G (p.Phe284Cys)
c.842T>G (p.Phe281Cys)
c.455T>G (p.Phe152Cys)
Xg.70033456T>ACA413448882EDAc.852T>A (p.Phe284Leu)
c.843T>A (p.Phe281Leu)
c.456T>A (p.Phe152Leu)
Xg.70033456T>CCA517014045EDAc.852T>C (p.Phe284=)
c.843T>C (p.Phe281=)
c.456T>C (p.Phe152=)
 ClinVar dbSNP
Xg.70033456T>GCA413448883EDAc.852T>G (p.Phe284Leu)
c.843T>G (p.Phe281Leu)
c.456T>G (p.Phe152Leu)
Xg.70033457A=CA2435981301EDAc.853A= (p.Lys285=)
c.844A= (p.Lys282=)
c.457A= (p.Lys153=)
Xg.70033457A>CCA413448886EDAc.853A>C (p.Lys285Gln)
c.844A>C (p.Lys282Gln)
c.457A>C (p.Lys153Gln)
Xg.70033457A>GCA413448885EDAc.853A>G (p.Lys285Glu)
c.844A>G (p.Lys282Glu)
c.457A>G (p.Lys153Glu)
 ClinVar dbSNP
Xg.70033457A>TCA413448884EDAc.853A>T (p.Lys285Ter)
c.844A>T (p.Lys282Ter)
c.457A>T (p.Lys153Ter)
Xg.70033458A>CCA413448887EDAc.854A>C (p.Lys285Thr)
c.845A>C (p.Lys282Thr)
c.458A>C (p.Lys153Thr)
Xg.70033458A>GCA413448888EDAc.854A>G (p.Lys285Arg)
c.845A>G (p.Lys282Arg)
c.458A>G (p.Lys153Arg)
Xg.70033458A>TCA413448889EDAc.854A>T (p.Lys285Met)
c.845A>T (p.Lys282Met)
c.458A>T (p.Lys153Met)
Xg.70033459delCA2695234455EDAc.855del (p.Lys285AsnfsTer23)
c.855del (p.Lys285AsnfsTer?)
c.846del (p.Lys282AsnfsTer?)
c.459del (p.Lys153AsnfsTer23)
c.846del (p.Lys282AsnfsTer23)
Xg.70033459G>ACA517014062EDAc.855G>A (p.Lys285=)
c.846G>A (p.Lys282=)
c.459G>A (p.Lys153=)
Xg.70033459G>CCA413448890EDAc.855G>C (p.Lys285Asn)
c.846G>C (p.Lys282Asn)
c.459G>C (p.Lys153Asn)
Xg.70033459G>TCA413448891EDAc.855G>T (p.Lys285Asn)
c.846G>T (p.Lys282Asn)
c.459G>T (p.Lys153Asn)
Xg.70033460C>ACA413448892EDAc.856C>A (p.Leu286Ile)
c.847C>A (p.Leu283Ile)
c.460C>A (p.Leu154Ile)
 gnomAD v4
Xg.70033460C=CA2435981302EDAc.856C= (p.Leu286=)
c.847C= (p.Leu283=)
c.460C= (p.Leu154=)
Xg.70033460C>GCA413448893EDAc.856C>G (p.Leu286Val)
c.847C>G (p.Leu283Val)
c.460C>G (p.Leu154Val)
Xg.70033460C>TCA517014067EDAc.856C>T (p.Leu286=)
c.847C>T (p.Leu283=)
c.460C>T (p.Leu154=)
 dbSNP gnomAD v2 gnomAD v4
Xg.70033461T>ACA413448894EDAc.857T>A (p.Leu286Gln)
c.848T>A (p.Leu283Gln)
c.461T>A (p.Leu154Gln)
Xg.70033461T>CCA413448895EDAc.857T>C (p.Leu286Pro)
c.848T>C (p.Leu283Pro)
c.461T>C (p.Leu154Pro)
Xg.70033461T>GCA413448896EDAc.857T>G (p.Leu286Arg)
c.848T>G (p.Leu283Arg)
c.461T>G (p.Leu154Arg)
Xg.70033462A>CCA517014073EDAc.858A>C (p.Leu286=)
c.849A>C (p.Leu283=)
c.462A>C (p.Leu154=)
Xg.70033462A>GCA517014075EDAc.858A>G (p.Leu286=)
c.849A>G (p.Leu283=)
c.462A>G (p.Leu154=)
 ClinVar dbSNP
Xg.70033462A>TCA517014076EDAc.858A>T (p.Leu286=)
c.849A>T (p.Leu283=)
c.462A>T (p.Leu154=)
Xg.70033463C>ACA413448897EDAc.859C>A (p.His287Asn)
c.850C>A (p.His284Asn)
c.463C>A (p.His155Asn)
Xg.70033463C>GCA413448898EDAc.859C>G (p.His287Asp)
c.850C>G (p.His284Asp)
c.463C>G (p.His155Asp)
Xg.70033463C>TCA413448899EDAc.859C>T (p.His287Tyr)
c.850C>T (p.His284Tyr)
c.463C>T (p.His155Tyr)
Xg.70033464A>CCA413448902EDAc.860A>C (p.His287Pro)
c.851A>C (p.His284Pro)
c.464A>C (p.His155Pro)
Xg.70033464A>GCA413448901EDAc.860A>G (p.His287Arg)
c.851A>G (p.His284Arg)
c.464A>G (p.His155Arg)
Xg.70033464A>TCA413448900EDAc.860A>T (p.His287Leu)
c.851A>T (p.His284Leu)
c.464A>T (p.His155Leu)
Xg.70033465T>ACA413448904EDAc.861T>A (p.His287Gln)
c.852T>A (p.His284Gln)
c.465T>A (p.His155Gln)
 dbSNP gnomAD v2 gnomAD v4
Xg.70033465T>CCA517014085EDAc.861T>C (p.His287=)
c.852T>C (p.His284=)
c.465T>C (p.His155=)
Xg.70033465T>GCA413448903EDAc.861T>G (p.His287Gln)
c.852T>G (p.His284Gln)
c.465T>G (p.His155Gln)
Xg.70033465T=CA2435981303EDAc.861T= (p.His287=)
c.852T= (p.His284=)
c.465T= (p.His155=)
Xg.70033466C>ACA413448907EDAc.862C>A (p.Pro288Thr)
c.853C>A (p.Pro285Thr)
c.466C>A (p.Pro156Thr)
Xg.70033466C>GCA413448905EDAc.862C>G (p.Pro288Ala)
c.853C>G (p.Pro285Ala)
c.466C>G (p.Pro156Ala)
Xg.70033466C>TCA413448906EDAc.862C>T (p.Pro288Ser)
c.853C>T (p.Pro285Ser)
c.466C>T (p.Pro156Ser)
Xg.70033469delCA2579632551EDAc.865del (p.Arg289AlafsTer19)
c.865del (p.Arg289AlafsTer?)
c.856del (p.Arg286AlafsTer?)
c.469del (p.Arg157AlafsTer19)
c.856del (p.Arg286AlafsTer19)
 ClinVar
Xg.70033467C>ACA413448908EDAc.863C>A (p.Pro288His)
c.854C>A (p.Pro285His)
c.467C>A (p.Pro156His)
Xg.70033467C>GCA413448909EDAc.863C>G (p.Pro288Arg)
c.854C>G (p.Pro285Arg)
c.467C>G (p.Pro156Arg)
Xg.70033467C>TCA413448910EDAc.863C>T (p.Pro288Leu)
c.854C>T (p.Pro285Leu)
c.467C>T (p.Pro156Leu)
Xg.70033468C>ACA517014092EDAc.864C>A (p.Pro288=)
c.855C>A (p.Pro285=)
c.468C>A (p.Pro156=)
Xg.70033468C=CA2435981304EDAc.864C= (p.Pro288=)
c.855C= (p.Pro285=)
c.468C= (p.Pro156=)
Xg.70033468C>GCA517014094EDAc.864C>G (p.Pro288=)
c.855C>G (p.Pro285=)
c.468C>G (p.Pro156=)
Xg.70033468C>TCA517014097EDAc.864C>T (p.Pro288=)
c.855C>T (p.Pro285=)
c.468C>T (p.Pro156=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.70033469C>ACA413448911EDAc.865C>A (p.Arg289Ser)
c.856C>A (p.Arg286Ser)
c.469C>A (p.Arg157Ser)
Xg.70033469C=CA2435981305EDAc.865C= (p.Arg289=)
c.856C= (p.Arg286=)
c.469C= (p.Arg157=)
Xg.70033469C>GCA413448912EDAc.865C>G (p.Arg289Gly)
c.856C>G (p.Arg286Gly)
c.469C>G (p.Arg157Gly)
Xg.70033469C>TCA10586173EDAc.865C>T (p.Arg289Cys)
c.856C>T (p.Arg286Cys)
c.469C>T (p.Arg157Cys)
 ClinVar dbSNP COSMIC COSMIC
Xg.70033469_70033470insTATCCA642457277EDAc.865_866insTATC (p.Arg289LeufsTer18)
c.856_857insTATC (p.Arg286LeufsTer18)
c.469_470insTATC (p.Arg157LeufsTer18)
c.865_866insTATC (p.Arg289LeufsTer15)
 gnomAD v2
Xg.70033470G>ACA10577177EDAc.866G>A (p.Arg289His)
c.857G>A (p.Arg286His)
c.470G>A (p.Arg157His)
 ClinVar dbSNP gnomAD v4
Xg.70033470G>CCA413448913EDAc.866G>C (p.Arg289Pro)
c.857G>C (p.Arg286Pro)
c.470G>C (p.Arg157Pro)
 dbSNP gnomAD v2
Xg.[70033470G>C;70033472A>T]CA2580573382EDAc.[866G>C;868A>T] (p.[Arg289Pro;Ser290Cys])
c.[857G>C;859A>T] (p.Arg286_Ser287delinsProCys)
c.[470G>C;472A>T] (p.Arg157_Ser158delinsProCys)
c.[857G>C;859A>T] (p.[Arg286Pro;Ser287Cys])
Xg.70033470G=CA2435981306EDAc.866G= (p.Arg289=)
c.857G= (p.Arg286=)
c.470G= (p.Arg157=)
Xg.70033470G>TCA413448914EDAc.866G>T (p.Arg289Leu)
c.857G>T (p.Arg286Leu)
c.470G>T (p.Arg157Leu)
Xg.70033470_70033471delinsAACA2435981307EDAc.866_867delinsAA (p.Arg289Gln)
c.857_858delinsAA (p.Arg286Gln)
c.470_471delinsAA (p.Arg157Gln)
 ClinVar dbSNP
Xg.70033470_70033471delinsGCCA2435981308EDAc.866_867delinsGC (p.Arg289=)
c.857_858delinsGC (p.Arg286=)
c.470_471delinsGC (p.Arg157=)
Xg.70033470_70033472delinsCCTCA2695234456EDAc.866_868delinsCCT (p.Arg289_Ser290delinsProCys)
c.857_859delinsCCT (p.Arg286_Ser287delinsProCys)
c.470_472delinsCCT (p.Arg157_Ser158delinsProCys)
Xg.70033471C>ACA517014106EDAc.867C>A (p.Arg289=)
c.858C>A (p.Arg286=)
c.471C>A (p.Arg157=)
 ClinVar dbSNP gnomAD v4
Xg.70033471C=CA2435981309EDAc.867C= (p.Arg289=)
c.858C= (p.Arg286=)
c.471C= (p.Arg157=)
Xg.70033471C>GCA517014108EDAc.867C>G (p.Arg289=)
c.858C>G (p.Arg286=)
c.471C>G (p.Arg157=)
Xg.70033471C>TCA517014110EDAc.867C>T (p.Arg289=)
c.858C>T (p.Arg286=)
c.471C>T (p.Arg157=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.70033472A>CCA413448917EDAc.868A>C (p.Ser290Arg)
c.859A>C (p.Ser287Arg)
c.472A>C (p.Ser158Arg)
Xg.70033472A>GCA413448916EDAc.868A>G (p.Ser290Gly)
c.859A>G (p.Ser287Gly)
c.472A>G (p.Ser158Gly)
Xg.70033472A>TCA413448915EDAc.868A>T (p.Ser290Cys)
c.859A>T (p.Ser287Cys)
c.472A>T (p.Ser158Cys)
 dbSNP
Xg.70033473G>ACA413448918EDAc.869G>A (p.Ser290Asn)
c.860G>A (p.Ser287Asn)
c.473G>A (p.Ser158Asn)
 gnomAD v4
Xg.70033473G>CCA413448919EDAc.869G>C (p.Ser290Thr)
c.860G>C (p.Ser287Thr)
c.473G>C (p.Ser158Thr)
Xg.70033473G>TCA413448920EDAc.869G>T (p.Ser290Ile)
c.860G>T (p.Ser287Ile)
c.473G>T (p.Ser158Ile)
Xg.70033474C>ACA413448921EDAc.870C>A (p.Ser290Arg)
c.861C>A (p.Ser287Arg)
c.474C>A (p.Ser158Arg)
Xg.70033474C=CA2435981310EDAc.870C= (p.Ser290=)
c.861C= (p.Ser287=)
c.474C= (p.Ser158=)
Xg.70033474C>GCA413448922EDAc.870C>G (p.Ser290Arg)
c.861C>G (p.Ser287Arg)
c.474C>G (p.Ser158Arg)
Xg.70033474C>TCA10439019EDAc.870C>T (p.Ser290=)
c.861C>T (p.Ser287=)
c.474C>T (p.Ser158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.70033475G>ACA261508EDAc.871G>A (p.Gly291Arg)
c.862G>A (p.Gly288Arg)
c.475G>A (p.Gly159Arg)
 ClinVar dbSNP gnomAD v4
Xg.70033475G>CCA413448923EDAc.871G>C (p.Gly291Arg)
c.862G>C (p.Gly288Arg)
c.475G>C (p.Gly159Arg)
 ClinVar
Xg.70033475G=CA2435981311EDAc.871G= (p.Gly291=)
c.862G= (p.Gly288=)
c.475G= (p.Gly159=)
Xg.70033475G>TCA413448924EDAc.871G>T (p.Gly291Trp)
c.862G>T (p.Gly288Trp)
c.475G>T (p.Gly159Trp)
Xg.70033476G>ACA10603736EDAc.872G>A (p.Gly291Glu)
c.863G>A (p.Gly288Glu)
c.476G>A (p.Gly159Glu)
 ClinVar dbSNP
Xg.70033476G>CCA413448925EDAc.872G>C (p.Gly291Ala)
c.863G>C (p.Gly288Ala)
c.476G>C (p.Gly159Ala)
Xg.70033476G=CA2435981312EDAc.872G= (p.Gly291=)
c.863G= (p.Gly288=)
c.476G= (p.Gly159=)
Xg.70033476G>TCA413448926EDAc.872G>T (p.Gly291Val)
c.863G>T (p.Gly288Val)
c.476G>T (p.Gly159Val)
 ClinVar
Xg.70033476_70033494delinsGGGAGCTGGAGGTACTGGTCA2435981313EDAc.872_890delinsGGGAGCTGGAGGTACTGGT (p.Gly291=)
c.863_881delinsGGGAGCTGGAGGTACTGGT (p.Gly288=)
c.476_494delinsGGGAGCTGGAGGTACTGGT (p.Gly159=)
c.872_882+8delinsGGGAGCTGGAGGTACTGGT
Xg.70033477G>ACA517014129EDAc.873G>A (p.Gly291=)
c.864G>A (p.Gly288=)
c.477G>A (p.Gly159=)
 ClinVar
Xg.70033477G>CCA517014131EDAc.873G>C (p.Gly291=)
c.864G>C (p.Gly288=)
c.477G>C (p.Gly159=)
Xg.70033477G>TCA517014133EDAc.873G>T (p.Gly291=)
c.864G>T (p.Gly288=)
c.477G>T (p.Gly159=)
Xg.70033480_70033497delCA915951155EDAc.876_893del (p.Glu292_Val297del)
c.867_884del (p.Glu289_Val294del)
c.480_497del (p.Glu160_Val165del)
c.876_882+11del
 ClinVar dbSNP
Xg.70033479_70033500delCA2695234457EDAc.875_896del (p.Glu292AlafsTer9)
c.875_896del (p.Glu292AlafsTer?)
c.866_887del (p.Glu289AlafsTer?)
c.479_500del (p.Glu160AlafsTer9)
c.866_887del (p.Glu289AlafsTer9)
c.875_882+14del
Xg.70033478G>ACA413448928EDAc.874G>A (p.Glu292Lys)
c.865G>A (p.Glu289Lys)
c.478G>A (p.Glu160Lys)
 COSMIC
Xg.70033478G>CCA413448929EDAc.874G>C (p.Glu292Gln)
c.865G>C (p.Glu289Gln)
c.478G>C (p.Glu160Gln)
Xg.70033478G>TCA413448927EDAc.874G>T (p.Glu292Ter)
c.865G>T (p.Glu289Ter)
c.478G>T (p.Glu160Ter)
Xg.70033479A>CCA413448930EDAc.875A>C (p.Glu292Ala)
c.866A>C (p.Glu289Ala)
c.479A>C (p.Glu160Ala)
Xg.70033479A>GCA413448931EDAc.875A>G (p.Glu292Gly)
c.866A>G (p.Glu289Gly)
c.479A>G (p.Glu160Gly)
Xg.70033479A>TCA413448932EDAc.875A>T (p.Glu292Val)
c.866A>T (p.Glu289Val)
c.479A>T (p.Glu160Val)
Xg.70033480G>ACA517014141EDAc.876G>A (p.Glu292=)
c.867G>A (p.Glu289=)
c.480G>A (p.Glu160=)
 gnomAD v4
Xg.70033480G>CCA413448933EDAc.876G>C (p.Glu292Asp)
c.867G>C (p.Glu289Asp)
c.480G>C (p.Glu160Asp)
Xg.70033480G>TCA413448934EDAc.876G>T (p.Glu292Asp)
c.867G>T (p.Glu289Asp)
c.480G>T (p.Glu160Asp)
Xg.70033481C>ACA413448935EDAc.877C>A (p.Leu293Met)
c.868C>A (p.Leu290Met)
c.481C>A (p.Leu161Met)
Xg.70033481C=CA2435981314EDAc.877C= (p.Leu293=)
c.868C= (p.Leu290=)
c.481C= (p.Leu161=)
Xg.70033481C>GCA413448936EDAc.877C>G (p.Leu293Val)
c.868C>G (p.Leu290Val)
c.481C>G (p.Leu161Val)
Xg.70033481C>TCA517014146EDAc.877C>T (p.Leu293=)
c.868C>T (p.Leu290=)
c.481C>T (p.Leu161=)
 dbSNP gnomAD v4
Xg.70033482T>ACA413448937EDAc.878T>A (p.Leu293Gln)
c.869T>A (p.Leu290Gln)
c.482T>A (p.Leu161Gln)
Xg.70033482T>CCA413448939EDAc.878T>C (p.Leu293Pro)
c.869T>C (p.Leu290Pro)
c.482T>C (p.Leu161Pro)
Xg.70033482T>GCA413448938EDAc.878T>G (p.Leu293Arg)
c.869T>G (p.Leu290Arg)
c.482T>G (p.Leu161Arg)
 ClinVar
Xg.70033483G>ACA10439020EDAc.879G>A (p.Leu293=)
c.870G>A (p.Leu290=)
c.483G>A (p.Leu161=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70033483G>CCA517014153EDAc.879G>C (p.Leu293=)
c.870G>C (p.Leu290=)
c.483G>C (p.Leu161=)
Xg.70033483G=CA2435981315EDAc.879G= (p.Leu293=)
c.870G= (p.Leu290=)
c.483G= (p.Leu161=)
Xg.70033483G>TCA517014155EDAc.879G>T (p.Leu293=)
c.870G>T (p.Leu290=)
c.483G>T (p.Leu161=)
Xg.70033484G>ACA413448940EDAc.880G>A (p.Glu294Lys)
c.871G>A (p.Glu291Lys)
c.484G>A (p.Glu162Lys)
Xg.70033484G>CCA413448941EDAc.880G>C (p.Glu294Gln)
c.871G>C (p.Glu291Gln)
c.484G>C (p.Glu162Gln)
Xg.70033484G>TCA413448942EDAc.880G>T (p.Glu294Ter)
c.871G>T (p.Glu291Ter)
c.484G>T (p.Glu162Ter)
Xg.70033485A=CA2435981316EDAc.881A= (p.Glu294=)
c.872A= (p.Glu291=)
c.485A= (p.Glu162=)
Xg.70033485A>CCA413448943EDAc.881A>C (p.Glu294Ala)
c.872A>C (p.Glu291Ala)
c.485A>C (p.Glu162Ala)
Xg.70033485A>GCA413448944EDAc.881A>G (p.Glu294Gly)
c.872A>G (p.Glu291Gly)
c.485A>G (p.Glu162Gly)
Xg.70033485A>TCA133757EDAc.881A>T (p.Glu294Val)
c.872A>T (p.Glu291Val)
c.485A>T (p.Glu162Val)
 ClinVar dbSNP
Xg.70033486_70033489delCA2695234458EDAc.882_885del (p.Glu294AspfsTer13)
c.882_885del (p.Glu294AspfsTer?)
c.873_876del (p.Glu291AspfsTer?)
c.486_489del (p.Glu162AspfsTer13)
c.873_876del (p.Glu291AspfsTer13)
c.882_882+3del
Xg.70033486G>ACA517014164EDAc.882G>A (p.Glu294=)
c.873G>A (p.Glu291=)
c.486G>A (p.Glu162=)
 gnomAD v4
Xg.70033486G>CCA413448945EDAc.882G>C (p.Glu294Asp)
c.873G>C (p.Glu291Asp)
c.486G>C (p.Glu162Asp)
Xg.70033486G>TCA413448946EDAc.882G>T (p.Glu294Asp)
c.873G>T (p.Glu291Asp)
c.486G>T (p.Glu162Asp)
Xg.70033487delCA2739273563EDAc.883del (p.Val295TyrfsTer13)
c.883del (p.Val295TyrfsTer?)
c.874del (p.Val292TyrfsTer?)
c.487del (p.Val163TyrfsTer13)
c.874del (p.Val292TyrfsTer13)
c.882+1del
 ClinVar
Xg.70033489_70033494delCA2573159014EDAc.885_890del (p.Leu296_Val297del)
c.876_881del (p.Leu293_Val294del)
c.489_494del (p.Leu164_Val165del)
c.882+3_882+8del
 ClinVar dbSNP
Xg.70033487G>ACA413448947EDAc.883G>A (p.Val295Ile)
c.874G>A (p.Val292Ile)
c.487G>A (p.Val163Ile)
c.882+1G>A (n.882+1G>A)
Xg.70033487G>CCA413448948EDAc.883G>C (p.Val295Leu)
c.874G>C (p.Val292Leu)
c.487G>C (p.Val163Leu)
c.882+1G>C (n.882+1G>C)
Xg.70033487G>TCA413448949EDAc.883G>T (p.Val295Leu)
c.874G>T (p.Val292Leu)
c.487G>T (p.Val163Leu)
c.882+1G>T (n.882+1G>T)
Xg.70033488delCA2695234459EDAc.884del (p.Val295AspfsTer13)
c.884del (p.Val295AspfsTer?)
c.875del (p.Val292AspfsTer?)
c.488del (p.Val163AspfsTer13)
c.875del (p.Val292AspfsTer13)
c.882+2del (n.882+2del)
Xg.70033488T>ACA413448950EDAc.884T>A (p.Val295Glu)
c.875T>A (p.Val292Glu)
c.488T>A (p.Val163Glu)
c.882+2T>A (n.882+2T>A)
Xg.70033488T>CCA413448951EDAc.884T>C (p.Val295Ala)
c.875T>C (p.Val292Ala)
c.488T>C (p.Val163Ala)
c.882+2T>C (n.882+2T>C)
Xg.70033488T>GCA413448952EDAc.884T>G (p.Val295Gly)
c.875T>G (p.Val292Gly)
c.488T>G (p.Val163Gly)
c.882+2T>G (n.882+2T>G)
Xg.70033489A>CCA517014178EDAc.885A>C (p.Val295=)
c.876A>C (p.Val292=)
c.489A>C (p.Val163=)
c.882+3A>C (n.882+3A>C)
Xg.70033489A>GCA517014180EDAc.885A>G (p.Val295=)
c.876A>G (p.Val292=)
c.489A>G (p.Val163=)
c.882+3A>G (n.882+3A>G)
 ClinVar
Xg.70033489A>TCA517014181EDAc.885A>T (p.Val295=)
c.876A>T (p.Val292=)
c.489A>T (p.Val163=)
c.882+3A>T (n.882+3A>T)
Xg.70033490C>ACA413448953EDAc.886C>A (p.Leu296Met)
c.877C>A (p.Leu293Met)
c.490C>A (p.Leu164Met)
c.882+4C>A (n.882+4C>A)
Xg.70033490C=CA2435981317EDAc.886C= (p.Leu296=)
c.877C= (p.Leu293=)
c.490C= (p.Leu164=)
c.882+4C= (n.882+4C=)
Xg.70033490C>GCA413448954EDAc.886C>G (p.Leu296Val)
c.877C>G (p.Leu293Val)
c.490C>G (p.Leu164Val)
c.882+4C>G (n.882+4C>G)
Xg.70033490C>TCA517014186EDAc.886C>T (p.Leu296=)
c.877C>T (p.Leu293=)
c.490C>T (p.Leu164=)
c.882+4C>T (n.882+4C>T)
 ClinVar dbSNP gnomAD v4
Xg.70033492_70033505delCA2695234460EDAc.888_901del (p.Val297LeufsTer4)
c.879_892del (p.Val294LeufsTer4)
c.492_505del (p.Val165LeufsTer4)
c.882+6_882+19del (n.882+6_882+19del)
Xg.70033491T>ACA413448955EDAc.887T>A (p.Leu296Gln)
c.878T>A (p.Leu293Gln)
c.491T>A (p.Leu164Gln)
c.882+5T>A (n.882+5T>A)
Xg.70033491T>CCA413448956EDAc.887T>C (p.Leu296Pro)
c.878T>C (p.Leu293Pro)
c.491T>C (p.Leu164Pro)
c.882+5T>C (n.882+5T>C)
Xg.70033491T>GCA413448957EDAc.887T>G (p.Leu296Arg)
c.878T>G (p.Leu293Arg)
c.491T>G (p.Leu164Arg)
c.882+5T>G (n.882+5T>G)
Xg.70033492G>ACA517014196EDAc.888G>A (p.Leu296=)
c.879G>A (p.Leu293=)
c.492G>A (p.Leu164=)
c.882+6G>A (n.882+6G>A)
Xg.70033492G>CCA517014194EDAc.888G>C (p.Leu296=)
c.879G>C (p.Leu293=)
c.492G>C (p.Leu164=)
c.882+6G>C (n.882+6G>C)
Xg.70033492G>TCA517014192EDAc.888G>T (p.Leu296=)
c.879G>T (p.Leu293=)
c.492G>T (p.Leu164=)
c.882+6G>T (n.882+6G>T)
Xg.70033493G>ACA413448959EDAc.889G>A (p.Val297Met)
c.880G>A (p.Val294Met)
c.493G>A (p.Val165Met)
c.882+7G>A (n.882+7G>A)
Xg.70033493G>CCA413448960EDAc.889G>C (p.Val297Leu)
c.880G>C (p.Val294Leu)
c.493G>C (p.Val165Leu)
c.882+7G>C (n.882+7G>C)
Xg.70033493G>TCA413448958EDAc.889G>T (p.Val297Leu)
c.880G>T (p.Val294Leu)
c.493G>T (p.Val165Leu)
c.882+7G>T (n.882+7G>T)
Xg.70033493_70033502delCA2580101370EDAc.889_898del (p.Val297ProfsTer8)
c.889_898del (p.Val297ProfsTer?)
c.880_889del (p.Val294ProfsTer?)
c.493_502del (p.Val165ProfsTer8)
c.880_889del (p.Val294ProfsTer8)
c.882+7_882+16del (n.882+7_882+16del)
 ClinVar
Xg.70033494T>ACA413448961EDAc.890T>A (p.Val297Glu)
c.881T>A (p.Val294Glu)
c.494T>A (p.Val165Glu)
c.882+8T>A (n.882+8T>A)
Xg.70033494T>CCA10439021EDAc.890T>C (p.Val297Ala)
c.881T>C (p.Val294Ala)
c.494T>C (p.Val165Ala)
c.882+8T>C (n.882+8T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.70033494T>GCA413448962EDAc.890T>G (p.Val297Gly)
c.881T>G (p.Val294Gly)
c.494T>G (p.Val165Gly)
c.882+8T>G (n.882+8T>G)
Xg.70033494T=CA2435981318EDAc.890T= (p.Val297=)
c.881T= (p.Val294=)
c.494T= (p.Val165=)
c.882+8T= (n.882+8T=)
Xg.70033495G>ACA517014206EDAc.891G>A (p.Val297=)
c.882G>A (p.Val294=)
c.495G>A (p.Val165=)
c.882+9G>A (n.882+9G>A)
Xg.70033495G>CCA517014208EDAc.891G>C (p.Val297=)
c.882G>C (p.Val294=)
c.495G>C (p.Val165=)
c.882+9G>C (n.882+9G>C)
Xg.70033495G>TCA517014211EDAc.891G>T (p.Val297=)
c.882G>T (p.Val294=)
c.495G>T (p.Val165=)
c.882+9G>T (n.882+9G>T)
Xg.70033496G>ACA413448963EDAc.892G>A (p.Asp298Asn)
c.883G>A (p.Asp295Asn)
c.496G>A (p.Asp166Asn)
c.882+10G>A (n.882+10G>A)
Xg.70033496G>CCA413448964EDAc.892G>C (p.Asp298His)
c.883G>C (p.Asp295His)
c.496G>C (p.Asp166His)
c.882+10G>C (n.882+10G>C)
Xg.70033496G>TCA413448965EDAc.892G>T (p.Asp298Tyr)
c.883G>T (p.Asp295Tyr)
c.496G>T (p.Asp166Tyr)
c.882+10G>T (n.882+10G>T)
Xg.70033497A>CCA413448966EDAc.893A>C (p.Asp298Ala)
c.884A>C (p.Asp295Ala)
c.497A>C (p.Asp166Ala)
c.882+11A>C (n.882+11A>C)
Xg.70033497A>GCA413448967EDAc.893A>G (p.Asp298Gly)
c.884A>G (p.Asp295Gly)
c.497A>G (p.Asp166Gly)
c.882+11A>G (n.882+11A>G)
Xg.70033497A>TCA413448968EDAc.893A>T (p.Asp298Val)
c.884A>T (p.Asp295Val)
c.497A>T (p.Asp166Val)
c.882+11A>T (n.882+11A>T)
Xg.70033498C>ACA413448970EDAc.894C>A (p.Asp298Glu)
c.885C>A (p.Asp295Glu)
c.498C>A (p.Asp166Glu)
c.882+12C>A (n.882+12C>A)
Xg.70033498C=CA2435981319EDAc.894C= (p.Asp298=)
c.885C= (p.Asp295=)
c.498C= (p.Asp166=)
c.882+12C= (n.882+12C=)
Xg.70033498C>GCA413448969EDAc.894C>G (p.Asp298Glu)
c.885C>G (p.Asp295Glu)
c.498C>G (p.Asp166Glu)
c.882+12C>G (n.882+12C>G)
Xg.70033498C>TCA517014219EDAc.894C>T (p.Asp298=)
c.885C>T (p.Asp295=)
c.498C>T (p.Asp166=)
c.882+12C>T (n.882+12C>T)
 ClinVar dbSNP gnomAD v4
Xg.70033499G>ACA261509EDAc.895G>A (p.Gly299Ser)
c.886G>A (p.Gly296Ser)
c.499G>A (p.Gly167Ser)
c.882+13G>A (n.882+13G>A)
 ClinVar dbSNP
Xg.70033499G>CCA413448971EDAc.895G>C (p.Gly299Arg)
c.886G>C (p.Gly296Arg)
c.499G>C (p.Gly167Arg)
c.882+13G>C (n.882+13G>C)
Xg.70033499G=CA2435981320EDAc.895G= (p.Gly299=)
c.886G= (p.Gly296=)
c.499G= (p.Gly167=)
c.882+13G= (n.882+13G=)
Xg.70033499G>TCA413448972EDAc.895G>T (p.Gly299Cys)
c.886G>T (p.Gly296Cys)
c.499G>T (p.Gly167Cys)
c.882+13G>T (n.882+13G>T)
 ClinVar
Xg.70033500G>ACA413448973EDAc.896G>A (p.Gly299Asp)
c.887G>A (p.Gly296Asp)
c.500G>A (p.Gly167Asp)
c.882+14G>A (n.882+14G>A)
 ClinVar dbSNP
Xg.70033500G>CCA413448974EDAc.896G>C (p.Gly299Ala)
c.887G>C (p.Gly296Ala)
c.500G>C (p.Gly167Ala)
c.882+14G>C (n.882+14G>C)
Xg.70033500G>TCA413448975EDAc.896G>T (p.Gly299Val)
c.887G>T (p.Gly296Val)
c.500G>T (p.Gly167Val)
c.882+14G>T (n.882+14G>T)
Xg.70033501C>ACA517014228EDAc.897C>A (p.Gly299=)
c.888C>A (p.Gly296=)
c.501C>A (p.Gly167=)
c.882+15C>A (n.882+15C>A)
Xg.70033501C>GCA517014230EDAc.897C>G (p.Gly299=)
c.888C>G (p.Gly296=)
c.501C>G (p.Gly167=)
c.882+15C>G (n.882+15C>G)
Xg.70033501C>TCA517014231EDAc.897C>T (p.Gly299=)
c.888C>T (p.Gly296=)
c.501C>T (p.Gly167=)
c.882+15C>T (n.882+15C>T)
 ClinVar
Xg.70033502_70033536delCA2695234461EDAc.898_924+8del
c.898_918+14del
c.889_909+14del
c.502_528+8del
c.889_915+8del
c.882+16_882+50del (n.882+16_882+50del)
Xg.70033502A=CA2435981321EDAc.898A= (p.Thr300=)
c.889A= (p.Thr297=)
c.502A= (p.Thr168=)
c.882+16A= (n.882+16A=)
Xg.70033502A>CCA413448976EDAc.898A>C (p.Thr300Pro)
c.889A>C (p.Thr297Pro)
c.502A>C (p.Thr168Pro)
c.882+16A>C (n.882+16A>C)
Xg.70033502A>GCA413448978EDAc.898A>G (p.Thr300Ala)
c.889A>G (p.Thr297Ala)
c.502A>G (p.Thr168Ala)
c.882+16A>G (n.882+16A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.70033502A>TCA413448977EDAc.898A>T (p.Thr300Ser)
c.889A>T (p.Thr297Ser)
c.502A>T (p.Thr168Ser)
c.882+16A>T (n.882+16A>T)
Xg.70033503C>ACA413448979EDAc.899C>A (p.Thr300Asn)
c.890C>A (p.Thr297Asn)
c.503C>A (p.Thr168Asn)
c.882+17C>A (n.882+17C>A)
Xg.70033503C>GCA413448980EDAc.899C>G (p.Thr300Ser)
c.890C>G (p.Thr297Ser)
c.503C>G (p.Thr168Ser)
c.882+17C>G (n.882+17C>G)
Xg.70033503C>TCA413448981EDAc.899C>T (p.Thr300Ile)
c.890C>T (p.Thr297Ile)
c.503C>T (p.Thr168Ile)
c.882+17C>T (n.882+17C>T)
Xg.70033504C>ACA517014241EDAc.900C>A (p.Thr300=)
c.891C>A (p.Thr297=)
c.504C>A (p.Thr168=)
c.882+18C>A (n.882+18C>A)
Xg.70033504C>GCA517014244EDAc.900C>G (p.Thr300=)
c.891C>G (p.Thr297=)
c.504C>G (p.Thr168=)
c.882+18C>G (n.882+18C>G)
Xg.70033504C>TCA517014246EDAc.900C>T (p.Thr300=)
c.891C>T (p.Thr297=)
c.504C>T (p.Thr168=)
c.882+18C>T (n.882+18C>T)
Xg.70033505T>ACA413448982EDAc.901T>A (p.Tyr301Asn)
c.892T>A (p.Tyr298Asn)
c.505T>A (p.Tyr169Asn)
c.882+19T>A (n.882+19T>A)
Xg.70033505T>CCA413448983EDAc.901T>C (p.Tyr301His)
c.892T>C (p.Tyr298His)
c.505T>C (p.Tyr169His)
c.882+19T>C (n.882+19T>C)
Xg.70033505T>GCA413448984EDAc.901T>G (p.Tyr301Asp)
c.892T>G (p.Tyr298Asp)
c.505T>G (p.Tyr169Asp)
c.882+19T>G (n.882+19T>G)
 ClinVar dbSNP
Xg.70033505T=CA2435981322EDAc.901T= (p.Tyr301=)
c.892T= (p.Tyr298=)
c.505T= (p.Tyr169=)
c.882+19T= (n.882+19T=)
Xg.70033506_70033509delCA2695234462EDAc.902_905del (p.Tyr301SerfsTer6)
c.902_905del (p.Tyr301SerfsTer?)
c.893_896del (p.Tyr298SerfsTer?)
c.506_509del (p.Tyr169SerfsTer6)
c.893_896del (p.Tyr298SerfsTer6)
c.882+20_882+23del (n.882+20_882+23del)
Xg.70033506A=CA2435981323EDAc.902A= (p.Tyr301=)
c.893A= (p.Tyr298=)
c.506A= (p.Tyr169=)
c.882+20A= (n.882+20A=)
Xg.70033506A>CCA413448986EDAc.902A>C (p.Tyr301Ser)
c.893A>C (p.Tyr298Ser)
c.506A>C (p.Tyr169Ser)
c.882+20A>C (n.882+20A>C)
Xg.70033506A>GCA261510EDAc.902A>G (p.Tyr301Cys)
c.893A>G (p.Tyr298Cys)
c.506A>G (p.Tyr169Cys)
c.882+20A>G (n.882+20A>G)
 ClinVar dbSNP
Xg.70033506A>TCA413448988EDAc.902A>T (p.Tyr301Phe)
c.893A>T (p.Tyr298Phe)
c.506A>T (p.Tyr169Phe)
c.882+20A>T (n.882+20A>T)
Xg.70033507C>ACA413448990EDAc.903C>A (p.Tyr301Ter)
c.894C>A (p.Tyr298Ter)
c.507C>A (p.Tyr169Ter)
c.882+21C>A (n.882+21C>A)
Xg.70033507C=CA2435981324EDAc.903C= (p.Tyr301=)
c.894C= (p.Tyr298=)
c.507C= (p.Tyr169=)
c.882+21C= (n.882+21C=)
Xg.70033507C>GCA413448992EDAc.903C>G (p.Tyr301Ter)
c.894C>G (p.Tyr298Ter)
c.507C>G (p.Tyr169Ter)
c.882+21C>G (n.882+21C>G)
Xg.70033507C>TCA517014255EDAc.903C>T (p.Tyr301=)
c.894C>T (p.Tyr298=)
c.507C>T (p.Tyr169=)
c.882+21C>T (n.882+21C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.70033508T>ACA413448994EDAc.904T>A (p.Phe302Ile)
c.895T>A (p.Phe299Ile)
c.508T>A (p.Phe170Ile)
c.882+22T>A (n.882+22T>A)
Xg.70033508T>CCA413448998EDAc.904T>C (p.Phe302Leu)
c.895T>C (p.Phe299Leu)
c.508T>C (p.Phe170Leu)
c.882+22T>C (n.882+22T>C)
 ClinVar
Xg.70033508T>GCA413448996EDAc.904T>G (p.Phe302Val)
c.895T>G (p.Phe299Val)
c.508T>G (p.Phe170Val)
c.882+22T>G (n.882+22T>G)
Xg.70033509T>ACA413449000EDAc.905T>A (p.Phe302Tyr)
c.896T>A (p.Phe299Tyr)
c.509T>A (p.Phe170Tyr)
c.882+23T>A (n.882+23T>A)
Xg.70033509T>CCA413449002EDAc.905T>C (p.Phe302Ser)
c.896T>C (p.Phe299Ser)
c.509T>C (p.Phe170Ser)
c.882+23T>C (n.882+23T>C)
Xg.70033509T>GCA413449003EDAc.905T>G (p.Phe302Cys)
c.896T>G (p.Phe299Cys)
c.509T>G (p.Phe170Cys)
c.882+23T>G (n.882+23T>G)
Xg.70033510C>ACA413449005EDAc.906C>A (p.Phe302Leu)
c.897C>A (p.Phe299Leu)
c.510C>A (p.Phe170Leu)
c.882+24C>A (n.882+24C>A)
Xg.70033510C>GCA413449007EDAc.906C>G (p.Phe302Leu)
c.897C>G (p.Phe299Leu)
c.510C>G (p.Phe170Leu)
c.882+24C>G (n.882+24C>G)
Xg.70033510C>TCA517014268EDAc.906C>T (p.Phe302=)
c.897C>T (p.Phe299=)
c.510C>T (p.Phe170=)
c.882+24C>T (n.882+24C>T)
Xg.70033511A>CCA413449009EDAc.907A>C (p.Ile303Leu)
c.898A>C (p.Ile300Leu)
c.511A>C (p.Ile171Leu)
c.882+25A>C (n.882+25A>C)
 gnomAD v4
Xg.70033511A>GCA413449011EDAc.907A>G (p.Ile303Val)
c.898A>G (p.Ile300Val)
c.511A>G (p.Ile171Val)
c.882+25A>G (n.882+25A>G)
 gnomAD v4
Xg.70033511A>TCA413449013EDAc.907A>T (p.Ile303Phe)
c.898A>T (p.Ile300Phe)
c.511A>T (p.Ile171Phe)
c.882+25A>T (n.882+25A>T)
Xg.70033512T>ACA413449015EDAc.908T>A (p.Ile303Asn)
c.899T>A (p.Ile300Asn)
c.512T>A (p.Ile171Asn)
c.882+26T>A (n.882+26T>A)
Xg.70033512T>CCA413449016EDAc.908T>C (p.Ile303Thr)
c.899T>C (p.Ile300Thr)
c.512T>C (p.Ile171Thr)
c.882+26T>C (n.882+26T>C)
Xg.70033512T>GCA413449019EDAc.908T>G (p.Ile303Ser)
c.899T>G (p.Ile300Ser)
c.512T>G (p.Ile171Ser)
c.882+26T>G (n.882+26T>G)
Xg.70033513C>ACA517014276EDAc.909C>A (p.Ile303=)
c.900C>A (p.Ile300=)
c.513C>A (p.Ile171=)
c.882+27C>A (n.882+27C>A)
Xg.70033513C=CA2435981325EDAc.909C= (p.Ile303=)
c.900C= (p.Ile300=)
c.513C= (p.Ile171=)
c.882+27C= (n.882+27C=)
Xg.70033513C>GCA413449021EDAc.909C>G (p.Ile303Met)
c.900C>G (p.Ile300Met)
c.513C>G (p.Ile171Met)
c.882+27C>G (n.882+27C>G)
Xg.70033513C>TCA517014279EDAc.909C>T (p.Ile303=)
c.900C>T (p.Ile300=)
c.513C>T (p.Ile171=)
c.882+27C>T (n.882+27C>T)
Xg.70033514T>ACA413449026EDAc.910T>A (p.Tyr304Asn)
c.901T>A (p.Tyr301Asn)
c.514T>A (p.Tyr172Asn)
c.882+28T>A (n.882+28T>A)
Xg.70033514T>CCA413449023EDAc.910T>C (p.Tyr304His)
c.901T>C (p.Tyr301His)
c.514T>C (p.Tyr172His)
c.882+28T>C (n.882+28T>C)
Xg.70033514T>GCA413449025EDAc.910T>G (p.Tyr304Asp)
c.901T>G (p.Tyr301Asp)
c.514T>G (p.Tyr172Asp)
c.882+28T>G (n.882+28T>G)
 ClinVar
Xg.70033516_70033517dupCA913184723EDAc.912_913dup (p.Ser305IlefsTer4)
c.912_913dup (p.Ser305IlefsTer?)
c.903_904dup (p.Ser302IlefsTer?)
c.516_517dup (p.Ser173IlefsTer4)
c.903_904dup (p.Ser302IlefsTer4)
c.882+30_882+31dup (n.882+30_882+31dup)
 ClinVar dbSNP
Xg.70033514_70033517dupCA2695234464EDAc.910_913dup (p.Ser305IlefsTer2)
c.901_904dup (p.Ser302IlefsTer2)
c.514_517dup (p.Ser173IlefsTer2)
c.882+28_882+31dup (n.882+28_882+31dup)
Xg.70033516_70033525delCA2695234463EDAc.912_921del (p.Tyr304Ter)
c.912_918+3del
c.903_909+3del
c.516_525del (p.Tyr172Ter)
c.903_912del (p.Tyr301Ter)
c.882+30_882+39del (n.882+30_882+39del)
Xg.70033515A=CA2435981326EDAc.911A= (p.Tyr304=)
c.902A= (p.Tyr301=)
c.515A= (p.Tyr172=)
c.882+29A= (n.882+29A=)
Xg.70033515A>CCA10577178EDAc.911A>C (p.Tyr304Ser)
c.902A>C (p.Tyr301Ser)
c.515A>C (p.Tyr172Ser)
c.882+29A>C (n.882+29A>C)
 ClinVar dbSNP
Xg.70033515A>GCA413449028EDAc.911A>G (p.Tyr304Cys)
c.902A>G (p.Tyr301Cys)
c.515A>G (p.Tyr172Cys)
c.882+29A>G (n.882+29A>G)
Xg.70033515A>TCA413449029EDAc.911A>T (p.Tyr304Phe)
c.902A>T (p.Tyr301Phe)
c.515A>T (p.Tyr172Phe)
c.882+29A>T (n.882+29A>T)
Xg.70033516T>ACA413449030EDAc.912T>A (p.Tyr304Ter)
c.903T>A (p.Tyr301Ter)
c.516T>A (p.Tyr172Ter)
c.882+30T>A (n.882+30T>A)
Xg.70033516T>CCA517014288EDAc.912T>C (p.Tyr304=)
c.903T>C (p.Tyr301=)
c.516T>C (p.Tyr172=)
c.882+30T>C (n.882+30T>C)
Xg.70033516T>GCA413449031EDAc.912T>G (p.Tyr304Ter)
c.903T>G (p.Tyr301Ter)
c.516T>G (p.Tyr172Ter)
c.882+30T>G (n.882+30T>G)
Xg.70033519_70033526delCA2695234465EDAc.915_922del (p.Ser305ArgfsTer9)
c.915_918+4del
c.906_909+4del
c.519_526del (p.Ser173ArgfsTer9)
c.906_913del (p.Ser302ArgfsTer9)
c.882+33_882+40del (n.882+33_882+40del)
Xg.70033517A>CCA413449033EDAc.913A>C (p.Ser305Arg)
c.904A>C (p.Ser302Arg)
c.517A>C (p.Ser173Arg)
c.882+31A>C (n.882+31A>C)
Xg.70033517A>GCA413449035EDAc.913A>G (p.Ser305Gly)
c.904A>G (p.Ser302Gly)
c.517A>G (p.Ser173Gly)
c.882+31A>G (n.882+31A>G)
Xg.70033517A>TCA413449036EDAc.913A>T (p.Ser305Cys)
c.904A>T (p.Ser302Cys)
c.517A>T (p.Ser173Cys)
c.882+31A>T (n.882+31A>T)
Xg.70033518G>ACA413449039EDAc.914G>A (p.Ser305Asn)
c.905G>A (p.Ser302Asn)
c.518G>A (p.Ser173Asn)
c.882+32G>A (n.882+32G>A)
 ClinVar dbSNP
Xg.70033518G>CCA413449041EDAc.914G>C (p.Ser305Thr)
c.905G>C (p.Ser302Thr)
c.518G>C (p.Ser173Thr)
c.882+32G>C (n.882+32G>C)
Xg.70033518G=CA2435981327EDAc.914G= (p.Ser305=)
c.905G= (p.Ser302=)
c.518G= (p.Ser173=)
c.882+32G= (n.882+32G=)
Xg.70033518G>TCA413449043EDAc.914G>T (p.Ser305Ile)
c.905G>T (p.Ser302Ile)
c.518G>T (p.Ser173Ile)
c.882+32G>T (n.882+32G>T)
Xg.70033519T>ACA413449046EDAc.915T>A (p.Ser305Arg)
c.906T>A (p.Ser302Arg)
c.519T>A (p.Ser173Arg)
c.882+33T>A (n.882+33T>A)
Xg.70033519T>CCA517014299EDAc.915T>C (p.Ser305=)
c.906T>C (p.Ser302=)
c.519T>C (p.Ser173=)
c.882+33T>C (n.882+33T>C)
Xg.70033519T>GCA413449045EDAc.915T>G (p.Ser305Arg)
c.906T>G (p.Ser302Arg)
c.519T>G (p.Ser173Arg)
c.882+33T>G (n.882+33T>G)
Xg.70033520C>ACA413449049EDAc.916C>A (p.Gln306Lys)
c.907C>A (p.Gln303Lys)
c.520C>A (p.Gln174Lys)
c.882+34C>A (n.882+34C>A)
Xg.70033520C>GCA413449051EDAc.916C>G (p.Gln306Glu)
c.907C>G (p.Gln303Glu)
c.520C>G (p.Gln174Glu)
c.882+34C>G (n.882+34C>G)
Xg.70033520C>TCA413449050EDAc.916C>T (p.Gln306Ter)
c.907C>T (p.Gln303Ter)
c.520C>T (p.Gln174Ter)
c.882+34C>T (n.882+34C>T)
 ClinVar dbSNP
Xg.70033521A=CA2435981328EDAc.917A= (p.Gln306=)
c.908A= (p.Gln303=)
c.521A= (p.Gln174=)
c.882+35A= (n.882+35A=)
Xg.70033521A>CCA413449053EDAc.917A>C (p.Gln306Pro)
c.908A>C (p.Gln303Pro)
c.521A>C (p.Gln174Pro)
c.882+35A>C (n.882+35A>C)
 ClinVar
Xg.70033521A>GCA16621474EDAc.917A>G (p.Gln306Arg)
c.908A>G (p.Gln303Arg)
c.521A>G (p.Gln174Arg)
c.882+35A>G (n.882+35A>G)
 ClinVar dbSNP
Xg.70033521A>TCA175986EDAc.917A>T (p.Gln306Leu)
c.908A>T (p.Gln303Leu)
c.521A>T (p.Gln174Leu)
c.882+35A>T (n.882+35A>T)
 ClinVar dbSNP
Xg.70033522G>ACA517014308EDAc.918G>A (p.Gln306=)
c.909G>A (p.Gln303=)
c.522G>A (p.Gln174=)
c.882+36G>A (n.882+36G>A)
 gnomAD v4
Xg.70033522G>CCA413449057EDAc.918G>C (p.Gln306His)
c.909G>C (p.Gln303His)
c.522G>C (p.Gln174His)
c.882+36G>C (n.882+36G>C)
Xg.70033522G>TCA413449059EDAc.918G>T (p.Gln306His)
c.909G>T (p.Gln303His)
c.522G>T (p.Gln174His)
c.882+36G>T (n.882+36G>T)
Xg.70033523G>ACA413449060EDAc.919G>A (p.Val307Ile)
c.918+1G>A (n.918+1G>A)
c.909+1G>A (n.909+1G>A)
c.523G>A (p.Val175Ile)
c.910G>A (p.Val304Ile)
c.882+37G>A (n.882+37G>A)
 COSMIC COSMIC
Xg.70033523G>CCA413449062EDAc.919G>C (p.Val307Leu)
c.918+1G>C (n.918+1G>C)
c.909+1G>C (n.909+1G>C)
c.523G>C (p.Val175Leu)
c.910G>C (p.Val304Leu)
c.882+37G>C (n.882+37G>C)
Xg.70033523G>TCA413449064EDAc.919G>T (p.Val307Leu)
c.918+1G>T (n.918+1G>T)
c.909+1G>T (n.909+1G>T)
c.523G>T (p.Val175Leu)
c.910G>T (p.Val304Leu)
c.882+37G>T (n.882+37G>T)
Xg.70033524T>ACA413449066EDAc.920T>A (p.Val307Glu)
c.918+2T>A (n.918+2T>A)
c.909+2T>A (n.909+2T>A)
c.524T>A (p.Val175Glu)
c.911T>A (p.Val304Glu)
c.882+38T>A (n.882+38T>A)
Xg.70033524T>CCA413449067EDAc.920T>C (p.Val307Ala)
c.918+2T>C (n.918+2T>C)
c.909+2T>C (n.909+2T>C)
c.524T>C (p.Val175Ala)
c.911T>C (p.Val304Ala)
c.882+38T>C (n.882+38T>C)
Xg.70033524T>GCA413449069EDAc.920T>G (p.Val307Gly)
c.918+2T>G (n.918+2T>G)
c.909+2T>G (n.909+2T>G)
c.524T>G (p.Val175Gly)
c.911T>G (p.Val304Gly)
c.882+38T>G (n.882+38T>G)
Xg.70033525A>CCA517014318EDAc.921A>C (p.Val307=)
c.918+3A>C (n.918+3A>C)
c.909+3A>C (n.909+3A>C)
c.525A>C (p.Val175=)
c.912A>C (p.Val304=)
c.882+39A>C (n.882+39A>C)
Xg.70033525A>GCA517014320EDAc.921A>G (p.Val307=)
c.918+3A>G (n.918+3A>G)
c.909+3A>G (n.909+3A>G)
c.525A>G (p.Val175=)
c.912A>G (p.Val304=)
c.882+39A>G (n.882+39A>G)
Xg.70033525A>TCA517014323EDAc.921A>T (p.Val307=)
c.918+3A>T (n.918+3A>T)
c.909+3A>T (n.909+3A>T)
c.525A>T (p.Val175=)
c.912A>T (p.Val304=)
c.882+39A>T (n.882+39A>T)
Xg.70033526G>ACA413449074EDAc.922G>A (p.Glu308Lys)
c.918+4G>A (n.918+4G>A)
c.909+4G>A (n.909+4G>A)
c.526G>A (p.Glu176Lys)
c.913G>A (p.Glu305Lys)
c.882+40G>A (n.882+40G>A)
Xg.70033526G>CCA413449073EDAc.922G>C (p.Glu308Gln)
c.918+4G>C (n.918+4G>C)
c.909+4G>C (n.909+4G>C)
c.526G>C (p.Glu176Gln)
c.913G>C (p.Glu305Gln)
c.882+40G>C (n.882+40G>C)
Xg.70033526G=CA2435981329EDAc.922G= (p.Glu308=)
c.918+4G= (n.918+4G=)
c.909+4G= (n.909+4G=)
c.526G= (p.Glu176=)
c.913G= (p.Glu305=)
c.882+40G= (n.882+40G=)
Xg.70033526G>TCA413449072EDAc.922G>T (p.Glu308Ter)
c.918+4G>T (n.918+4G>T)
c.909+4G>T (n.909+4G>T)
c.526G>T (p.Glu176Ter)
c.913G>T (p.Glu305Ter)
c.882+40G>T (n.882+40G>T)
 ClinVar dbSNP
Xg.70033527A=CA2435981330EDAc.923A= (p.Glu308=)
c.918+5A= (n.918+5A=)
c.909+5A= (n.909+5A=)
c.527A= (p.Glu176=)
c.914A= (p.Glu305=)
c.882+41A= (n.882+41A=)
Xg.70033527A>CCA413449075EDAc.923A>C (p.Glu308Ala)
c.918+5A>C (n.918+5A>C)
c.909+5A>C (n.909+5A>C)
c.527A>C (p.Glu176Ala)
c.914A>C (p.Glu305Ala)
c.882+41A>C (n.882+41A>C)
Xg.70033527A>GCA16621475EDAc.923A>G (p.Glu308Gly)
c.918+5A>G (n.918+5A>G)
c.909+5A>G (n.909+5A>G)
c.527A>G (p.Glu176Gly)
c.914A>G (p.Glu305Gly)
c.882+41A>G (n.882+41A>G)
 ClinVar dbSNP
Xg.70033527A>TCA413449076EDAc.923A>T (p.Glu308Val)
c.918+5A>T (n.918+5A>T)
c.909+5A>T (n.909+5A>T)
c.527A>T (p.Glu176Val)
c.914A>T (p.Glu305Val)
c.882+41A>T (n.882+41A>T)
Xg.70033528A>CCA413449077EDAc.924A>C (p.Glu308Asp)
c.918+6A>C (n.918+6A>C)
c.909+6A>C (n.909+6A>C)
c.528A>C (p.Glu176Asp)
c.915A>C (p.Glu305Asp)
c.882+42A>C (n.882+42A>C)
Xg.70033528A>GCA517014332EDAc.924A>G (p.Glu308=)
c.918+6A>G (n.918+6A>G)
c.909+6A>G (n.909+6A>G)
c.528A>G (p.Glu176=)
c.915A>G (p.Glu305=)
c.882+42A>G (n.882+42A>G)
Xg.70033528A>TCA413449078EDAc.924A>T (p.Glu308Asp)
c.918+6A>T (n.918+6A>T)
c.909+6A>T (n.909+6A>T)
c.528A>T (p.Glu176Asp)
c.915A>T (p.Glu305Asp)
c.882+42A>T (n.882+42A>T)
Xg.70033529G>ACA413449079EDAc.924+1G>A (n.924+1G>A)
c.918+7G>A (n.918+7G>A)
c.909+7G>A (n.909+7G>A)
c.528+1G>A (n.528+1G>A)
c.915+1G>A (n.915+1G>A)
c.882+43G>A (n.882+43G>A)
 ClinVar dbSNP
Xg.70033529G>CCA413449080EDAc.924+1G>C (n.924+1G>C)
c.918+7G>C (n.918+7G>C)
c.909+7G>C (n.909+7G>C)
c.528+1G>C (n.528+1G>C)
c.915+1G>C (n.915+1G>C)
c.882+43G>C (n.882+43G>C)
Xg.70033529G>TCA413449081EDAc.924+1G>T (n.924+1G>T)
c.918+7G>T (n.918+7G>T)
c.909+7G>T (n.909+7G>T)
c.528+1G>T (n.528+1G>T)
c.915+1G>T (n.915+1G>T)
c.882+43G>T (n.882+43G>T)
Xg.70033529dupCA2695234466EDAc.924+1dup (n.924+1dup)
c.918+7dup (n.918+7dup)
c.909+7dup (n.909+7dup)
c.528+1dup (n.528+1dup)
c.915+1dup (n.915+1dup)
c.882+43dup (n.882+43dup)
Xg.70033530T>ACA413449083EDAc.924+2T>A (n.924+2T>A)
c.918+8T>A (n.918+8T>A)
c.909+8T>A (n.909+8T>A)
c.528+2T>A (n.528+2T>A)
c.915+2T>A (n.915+2T>A)
c.882+44T>A (n.882+44T>A)
Xg.70033530T>CCA413449085EDAc.924+2T>C (n.924+2T>C)
c.918+8T>C (n.918+8T>C)
c.909+8T>C (n.909+8T>C)
c.528+2T>C (n.528+2T>C)
c.915+2T>C (n.915+2T>C)
c.882+44T>C (n.882+44T>C)
Xg.70033530T>GCA413449086EDAc.924+2T>G (n.924+2T>G)
c.918+8T>G (n.918+8T>G)
c.909+8T>G (n.909+8T>G)
c.528+2T>G (n.528+2T>G)
c.915+2T>G (n.915+2T>G)
c.882+44T>G (n.882+44T>G)
Xg.70033532A>TCA2697553147EDAc.924+4A>T (n.924+4A>T)
c.918+10A>T (n.918+10A>T)
c.909+10A>T (n.909+10A>T)
c.528+4A>T (n.528+4A>T)
c.915+4A>T (n.915+4A>T)
c.882+46A>T (n.882+46A>T)
 ClinVar
Xg.70033533delCA2695234467EDAc.924+5del (n.924+5del)
c.918+11del (n.918+11del)
c.909+11del (n.909+11del)
c.528+5del (n.528+5del)
c.915+5del (n.915+5del)
c.882+47del (n.882+47del)
Xg.70033533G>ACA1139667628EDAc.924+5G>A (n.924+5G>A)
c.918+11G>A (n.918+11G>A)
c.909+11G>A (n.909+11G>A)
c.528+5G>A (n.528+5G>A)
c.915+5G>A (n.915+5G>A)
c.882+47G>A (n.882+47G>A)
 ClinVar dbSNP
Xg.70033533G=CA2435981331EDAc.924+5G= (n.924+5G=)
c.918+11G= (n.918+11G=)
c.909+11G= (n.909+11G=)
c.528+5G= (n.528+5G=)
c.915+5G= (n.915+5G=)
c.882+47G= (n.882+47G=)

Number of alleles fetched