Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.135985633_135985635dupCA644668639SLC9A6c.131_133dup (p.Asp44_Gly45insAsp)
c.-26_-24dup (n.-26_-24dup)
dbSNP gnomAD v2
Xg.135985634C>ACA414606582SLC9A6c.132C>A (p.Asp44Glu)
c.-25C>A (n.-25C>A)
dbSNP gnomAD v4
Xg.135985634C=CA2460185437SLC9A6c.132C= (p.Asp44=)
c.-25C= (n.-25C=)
Xg.135985634C>GCA414606581SLC9A6c.132C>G (p.Asp44Glu)
c.-25C>G (n.-25C>G)
Xg.135985634C>TCA518490487SLC9A6c.132C>T (p.Asp44=)
c.-25C>T (n.-25C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985643_135985645dupCA318540SLC9A6c.141_143dup (p.Gly48_Glu49insGly)
c.-16_-14dup (n.-16_-14dup)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135985643_135985645delCA2579709511SLC9A6c.141_143del (p.Gly48del)
c.-16_-14del (n.-16_-14del)
gnomAD v4
Xg.135985635G>ACA414606583SLC9A6c.133G>A (p.Gly45Ser)
c.-24G>A (n.-24G>A)
Xg.135985635G>CCA414606585SLC9A6c.133G>C (p.Gly45Arg)
c.-24G>C (n.-24G>C)
Xg.135985635G=CA2460185438SLC9A6c.133G= (p.Gly45=)
c.-24G= (n.-24G=)
Xg.135985635G>TCA414606584SLC9A6c.133G>T (p.Gly45Cys)
c.-24G>T (n.-24G>T)
dbSNP gnomAD v2 gnomAD v4
Xg.135985636G>ACA414606586SLC9A6c.134G>A (p.Gly45Asp)
c.-23G>A (n.-23G>A)
ClinVar
Xg.135985636G>CCA414606587SLC9A6c.134G>C (p.Gly45Ala)
c.-23G>C (n.-23G>C)
Xg.135985636G>TCA414606588SLC9A6c.134G>T (p.Gly45Val)
c.-23G>T (n.-23G>T)
Xg.135985637C>ACA518490494SLC9A6c.135C>A (p.Gly45=)
c.-22C>A (n.-22C>A)
Xg.135985637C=CA2460185439SLC9A6c.135C= (p.Gly45=)
c.-22C= (n.-22C=)
Xg.135985637C>GCA518490496SLC9A6c.135C>G (p.Gly45=)
c.-22C>G (n.-22C>G)
Xg.135985637C>TCA10524596SLC9A6c.135C>T (p.Gly45=)
c.-22C>T (n.-22C>T)
dbSNP ExAC gnomAD v2
Xg.135985638G>ACA414606589SLC9A6c.136G>A (p.Gly46Ser)
c.-21G>A (n.-21G>A)
Xg.135985638G>CCA414606590SLC9A6c.136G>C (p.Gly46Arg)
c.-21G>C (n.-21G>C)
Xg.135985638G>TCA414606591SLC9A6c.136G>T (p.Gly46Cys)
c.-21G>T (n.-21G>T)
Xg.135985639G>ACA10524597SLC9A6c.137G>A (p.Gly46Asp)
c.-20G>A (n.-20G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135985639G>CCA414606592SLC9A6c.137G>C (p.Gly46Ala)
c.-20G>C (n.-20G>C)
Xg.135985639G=CA2460185440SLC9A6c.137G= (p.Gly46=)
c.-20G= (n.-20G=)
Xg.135985639G>TCA414606593SLC9A6c.137G>T (p.Gly46Val)
c.-20G>T (n.-20G>T)
Xg.135985640C>ACA336084334SLC9A6c.138C>A (p.Gly46=)
c.-19C>A (n.-19C>A)
ClinVar dbSNP gnomAD v4
Xg.135985640C=CA2460185441SLC9A6c.138C= (p.Gly46=)
c.-19C= (n.-19C=)
Xg.135985640C>GCA518490502SLC9A6c.138C>G (p.Gly46=)
c.-19C>G (n.-19C>G)
Xg.135985640C>TCA518490503SLC9A6c.138C>T (p.Gly46=)
c.-19C>T (n.-19C>T)
Xg.135985641G>ACA414606594SLC9A6c.139G>A (p.Gly47Ser)
c.-18G>A (n.-18G>A)
Xg.135985641G>CCA414606595SLC9A6c.139G>C (p.Gly47Arg)
c.-18G>C (n.-18G>C)
Xg.135985641G>TCA414606596SLC9A6c.139G>T (p.Gly47Cys)
c.-18G>T (n.-18G>T)
Xg.135985642G>ACA414606599SLC9A6c.140G>A (p.Gly47Asp)
c.-17G>A (n.-17G>A)
Xg.135985642G>CCA414606598SLC9A6c.140G>C (p.Gly47Ala)
c.-17G>C (n.-17G>C)
Xg.135985642G>TCA414606597SLC9A6c.140G>T (p.Gly47Val)
c.-17G>T (n.-17G>T)
Xg.135985643C>ACA518490507SLC9A6c.141C>A (p.Gly47=)
c.-16C>A (n.-16C>A)
Xg.135985643C=CA2460185442SLC9A6c.141C= (p.Gly47=)
c.-16C= (n.-16C=)
Xg.135985643C>GCA518490508SLC9A6c.141C>G (p.Gly47=)
c.-16C>G (n.-16C>G)
Xg.135985643C>TCA293620SLC9A6c.141C>T (p.Gly47=)
c.-16C>T (n.-16C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985644G>ACA414606600SLC9A6c.142G>A (p.Gly48Arg)
c.-15G>A (n.-15G>A)
Xg.135985644G>CCA10524598SLC9A6c.142G>C (p.Gly48Arg)
c.-15G>C (n.-15G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135985644G=CA2460185443SLC9A6c.142G= (p.Gly48=)
c.-15G= (n.-15G=)
Xg.135985644G>TCA414606601SLC9A6c.142G>T (p.Gly48Ter)
c.-15G>T (n.-15G>T)
Xg.135985645G>ACA414606604SLC9A6c.143G>A (p.Gly48Glu)
c.-14G>A (n.-14G>A)
Xg.135985645G>CCA414606603SLC9A6c.143G>C (p.Gly48Ala)
c.-14G>C (n.-14G>C)
Xg.135985645G>TCA414606602SLC9A6c.143G>T (p.Gly48Val)
c.-14G>T (n.-14G>T)
Xg.135985646A=CA2460185444SLC9A6c.144A= (p.Gly48=)
c.-13A= (n.-13A=)
Xg.135985646A>CCA518490514SLC9A6c.144A>C (p.Gly48=)
c.-13A>C (n.-13A>C)
ClinVar dbSNP
Xg.135985646A>GCA518490515SLC9A6c.144A>G (p.Gly48=)
c.-13A>G (n.-13A>G)
Xg.135985646A>TCA518490517SLC9A6c.144A>T (p.Gly48=)
c.-13A>T (n.-13A>T)
Xg.135985647G>ACA414606605SLC9A6c.145G>A (p.Glu49Lys)
c.-12G>A (n.-12G>A)
dbSNP gnomAD v4 COSMIC COSMIC
Xg.135985647G>CCA414606606SLC9A6c.145G>C (p.Glu49Gln)
c.-12G>C (n.-12G>C)
Xg.135985647G=CA2460185445SLC9A6c.145G= (p.Glu49=)
c.-12G= (n.-12G=)
Xg.135985647G>TCA414606607SLC9A6c.145G>T (p.Glu49Ter)
c.-12G>T (n.-12G>T)
Xg.135985648A>CCA414606608SLC9A6c.146A>C (p.Glu49Ala)
c.-11A>C (n.-11A>C)
Xg.135985648A>GCA414606609SLC9A6c.146A>G (p.Glu49Gly)
c.-11A>G (n.-11A>G)
Xg.135985648A>TCA414606610SLC9A6c.146A>T (p.Glu49Val)
c.-11A>T (n.-11A>T)
Xg.135985649G>ACA10524599SLC9A6c.147G>A (p.Glu49=)
c.-10G>A (n.-10G>A)
dbSNP ExAC
Xg.135985649G>CCA414606612SLC9A6c.147G>C (p.Glu49Asp)
c.-10G>C (n.-10G>C)
Xg.135985649G=CA2460185446SLC9A6c.147G= (p.Glu49=)
c.-10G= (n.-10G=)
Xg.135985649G>TCA414606611SLC9A6c.147G>T (p.Glu49Asp)
c.-10G>T (n.-10G>T)
Xg.135985650G>ACA414606613SLC9A6c.148G>A (p.Ala50Thr)
c.-9G>A (n.-9G>A)
Xg.135985650G>CCA414606614SLC9A6c.148G>C (p.Ala50Pro)
c.-9G>C (n.-9G>C)
Xg.135985650G=CA2460185447SLC9A6c.148G= (p.Ala50=)
c.-9G= (n.-9G=)
Xg.135985650G>TCA318535SLC9A6c.148G>T (p.Ala50Ser)
c.-9G>T (n.-9G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985651C>ACA414606615SLC9A6c.149C>A (p.Ala50Asp)
c.-8C>A (n.-8C>A)
Xg.135985651C=CA2460185448SLC9A6c.149C= (p.Ala50=)
c.-8C= (n.-8C=)
Xg.135985651C>GCA414606616SLC9A6c.149C>G (p.Ala50Gly)
c.-8C>G (n.-8C>G)
Xg.135985651C>TCA414606617SLC9A6c.149C>T (p.Ala50Val)
c.-8C>T (n.-8C>T)
dbSNP gnomAD v4
Xg.135985652T>ACA518490534SLC9A6c.150T>A (p.Ala50=)
c.-7T>A (n.-7T>A)
Xg.135985652T>CCA518490532SLC9A6c.150T>C (p.Ala50=)
c.-7T>C (n.-7T>C)
Xg.135985652T>GCA518490530SLC9A6c.150T>G (p.Ala50=)
c.-7T>G (n.-7T>G)
dbSNP
Xg.135985652T=CA2460185449SLC9A6c.150T= (p.Ala50=)
c.-7T= (n.-7T=)
Xg.135985653A>CCA518490537SLC9A6c.151A>C (p.Arg51=)
c.-6A>C (n.-6A>C)
Xg.135985653A>GCA414606618SLC9A6c.151A>G (p.Arg51Gly)
c.-6A>G (n.-6A>G)
Xg.135985653A>TCA414606619SLC9A6c.151A>T (p.Arg51Ter)
c.-6A>T (n.-6A>T)
Xg.135985654G>ACA10524600SLC9A6c.152G>A (p.Arg51Lys)
c.-5G>A (n.-5G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135985654G>CCA414606620SLC9A6c.152G>C (p.Arg51Thr)
c.-5G>C (n.-5G>C)
ClinVar dbSNP
Xg.135985654G=CA2460185450SLC9A6c.152G= (p.Arg51=)
c.-5G= (n.-5G=)
Xg.135985654G>TCA414606621SLC9A6c.152G>T (p.Arg51Ile)
c.-5G>T (n.-5G>T)
Xg.135985655A=CA2460185451SLC9A6c.153A= (p.Arg51=)
c.-4A= (n.-4A=)
Xg.135985655A>CCA414606623SLC9A6c.153A>C (p.Arg51Ser)
c.-4A>C (n.-4A>C)
Xg.135985655A>GCA10524601SLC9A6c.153A>G (p.Arg51=)
c.-4A>G (n.-4A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985655A>TCA414606622SLC9A6c.153A>T (p.Arg51Ser)
c.-4A>T (n.-4A>T)
Xg.135985656G>ACA10524602SLC9A6c.154G>A (p.Ala52Thr)
c.-3G>A (n.-3G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985656G>CCA414606624SLC9A6c.154G>C (p.Ala52Pro)
c.-3G>C (n.-3G>C)
Xg.135985656G=CA2460185452SLC9A6c.154G= (p.Ala52=)
c.-3G= (n.-3G=)
Xg.135985656G>TCA414606625SLC9A6c.154G>T (p.Ala52Ser)
c.-3G>T (n.-3G>T)
Xg.135985657C>ACA414606626SLC9A6c.155C>A (p.Ala52Asp)
c.-2C>A (n.-2C>A)
Xg.135985657C>GCA414606627SLC9A6c.155C>G (p.Ala52Gly)
c.-2C>G (n.-2C>G)
Xg.135985657C>TCA414606628SLC9A6c.155C>T (p.Ala52Val)
c.-2C>T (n.-2C>T)
Xg.135985658C>ACA518490547SLC9A6c.156C>A (p.Ala52=)
c.-1C>A (n.-1C>A)
Xg.135985658C=CA2460185453SLC9A6c.156C= (p.Ala52=)
c.-1C= (n.-1C=)
Xg.135985658C>GCA518490549SLC9A6c.156C>G (p.Ala52=)
c.-1C>G (n.-1C>G)
gnomAD v4
Xg.135985658C>TCA336084423SLC9A6c.156C>T (p.Ala52=)
c.-1C>T (n.-1C>T)
ClinVar dbSNP gnomAD v4
Xg.135985659A>CCA414606629SLC9A6c.157A>C (p.Met53Leu)
c.1A>C (p.Met1Leu)
Xg.135985659A>GCA414606630SLC9A6c.157A>G (p.Met53Val)
c.1A>G (p.Met1Val)
Xg.135985659A>TCA414606631SLC9A6c.157A>T (p.Met53Leu)
c.1A>T (p.Met1Leu)
Xg.135985660T>ACA10524603SLC9A6c.158T>A (p.Met53Lys)
c.2T>A (p.Met1Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985660T>CCA414606632SLC9A6c.158T>C (p.Met53Thr)
c.2T>C (p.Met1Thr)
gnomAD v4
Xg.135985660T>GCA414606633SLC9A6c.158T>G (p.Met53Arg)
c.2T>G (p.Met1Arg)
gnomAD v4
Xg.135985660T=CA2460185454SLC9A6c.158T= (p.Met53=)
c.2T= (p.Met1=)
Xg.135985661G>ACA414606636SLC9A6c.159G>A (p.Met53Ile)
c.3G>A (p.Met1Ile)
Xg.135985661G>CCA414606635SLC9A6c.159G>C (p.Met53Ile)
c.3G>C (p.Met1Ile)
Xg.135985661G>TCA414606634SLC9A6c.159G>T (p.Met53Ile)
c.3G>T (p.Met1Ile)
Xg.135985662G>ACA414606637SLC9A6c.160G>A (p.Asp54Asn)
c.4G>A (p.Asp2Asn)
dbSNP COSMIC COSMIC
Xg.135985662G>CCA414606639SLC9A6c.160G>C (p.Asp54His)
c.4G>C (p.Asp2His)
Xg.135985662G=CA2460185455SLC9A6c.160G= (p.Asp54=)
c.4G= (p.Asp2=)
Xg.135985662G>TCA414606638SLC9A6c.160G>T (p.Asp54Tyr)
c.4G>T (p.Asp2Tyr)
Xg.135985663A>CCA414606640SLC9A6c.161A>C (p.Asp54Ala)
c.5A>C (p.Asp2Ala)
Xg.135985663A>GCA414606641SLC9A6c.161A>G (p.Asp54Gly)
c.5A>G (p.Asp2Gly)
Xg.135985663A>TCA414606642SLC9A6c.161A>T (p.Asp54Val)
c.5A>T (p.Asp2Val)
COSMIC COSMIC
Xg.135985664C>ACA414606643SLC9A6c.162C>A (p.Asp54Glu)
c.6C>A (p.Asp2Glu)
Xg.135985664C=CA2460185456SLC9A6c.162C= (p.Asp54=)
c.6C= (p.Asp2=)
Xg.135985664C>GCA414606644SLC9A6c.162C>G (p.Asp54Glu)
c.6C>G (p.Asp2Glu)
dbSNP gnomAD v2 gnomAD v4
Xg.135985664C>TCA518490560SLC9A6c.162C>T (p.Asp54=)
c.6C>T (p.Asp2=)
Xg.135985665G>ACA414606645SLC9A6c.163G>A (p.Glu55Lys)
c.7G>A (p.Glu3Lys)
dbSNP gnomAD v2 gnomAD v4
Xg.135985665G>CCA414606646SLC9A6c.163G>C (p.Glu55Gln)
c.7G>C (p.Glu3Gln)
gnomAD v4
Xg.135985665G=CA2460185457SLC9A6c.163G= (p.Glu55=)
c.7G= (p.Glu3=)
Xg.135985665G>TCA414606647SLC9A6c.163G>T (p.Glu55Ter)
c.7G>T (p.Glu3Ter)
Xg.135985666A>CCA414606648SLC9A6c.164A>C (p.Glu55Ala)
c.8A>C (p.Glu3Ala)
Xg.135985666A>GCA414606650SLC9A6c.164A>G (p.Glu55Gly)
c.8A>G (p.Glu3Gly)
Xg.135985666A>TCA414606649SLC9A6c.164A>T (p.Glu55Val)
c.8A>T (p.Glu3Val)
Xg.135985667G>ACA518490567SLC9A6c.165G>A (p.Glu55=)
c.9G>A (p.Glu3=)
Xg.135985667G>CCA414606651SLC9A6c.165G>C (p.Glu55Asp)
c.9G>C (p.Glu3Asp)
Xg.135985667G>TCA414606652SLC9A6c.165G>T (p.Glu55Asp)
c.9G>T (p.Glu3Asp)
Xg.135985668G>ACA414606653SLC9A6c.166G>A (p.Glu56Lys)
c.10G>A (p.Glu4Lys)
Xg.135985668G>CCA414606654SLC9A6c.166G>C (p.Glu56Gln)
c.10G>C (p.Glu4Gln)
Xg.135985668G>TCA414606655SLC9A6c.166G>T (p.Glu56Ter)
c.10G>T (p.Glu4Ter)
Xg.135985669A=CA2460185458SLC9A6c.167A= (p.Glu56=)
c.11A= (p.Glu4=)
Xg.135985669A>CCA414606656SLC9A6c.167A>C (p.Glu56Ala)
c.11A>C (p.Glu4Ala)
Xg.135985669A>GCA10524604SLC9A6c.167A>G (p.Glu56Gly)
c.11A>G (p.Glu4Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135985669A>TCA414606657SLC9A6c.167A>T (p.Glu56Val)
c.11A>T (p.Glu4Val)
Xg.135985670G>ACA518490572SLC9A6c.168G>A (p.Glu56=)
c.12G>A (p.Glu4=)
Xg.135985670G>CCA414606658SLC9A6c.168G>C (p.Glu56Asp)
c.12G>C (p.Glu4Asp)
Xg.135985670G>TCA414606659SLC9A6c.168G>T (p.Glu56Asp)
c.12G>T (p.Glu4Asp)
Xg.135985671A=CA2460185459SLC9A6c.169A= (p.Ile57=)
c.13A= (p.Ile5=)
Xg.135985671A>CCA414606660SLC9A6c.169A>C (p.Ile57Leu)
c.13A>C (p.Ile5Leu)
ClinVar dbSNP gnomAD v2
Xg.135985671A>GCA414606661SLC9A6c.169A>G (p.Ile57Val)
c.13A>G (p.Ile5Val)
Xg.135985671A>TCA414606662SLC9A6c.169A>T (p.Ile57Phe)
c.13A>T (p.Ile5Phe)
Xg.135985672T>ACA414606663SLC9A6c.170T>A (p.Ile57Asn)
c.14T>A (p.Ile5Asn)
Xg.135985672T>CCA414606664SLC9A6c.170T>C (p.Ile57Thr)
c.14T>C (p.Ile5Thr)
Xg.135985672T>GCA414606665SLC9A6c.170T>G (p.Ile57Ser)
c.14T>G (p.Ile5Ser)
Xg.135985673C>ACA518490579SLC9A6c.171C>A (p.Ile57=)
c.15C>A (p.Ile5=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985673C=CA2460185460SLC9A6c.171C= (p.Ile57=)
c.15C= (p.Ile5=)
Xg.135985673C>GCA10524605SLC9A6c.171C>G (p.Ile57Met)
c.15C>G (p.Ile5Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985673C>TCA518490580SLC9A6c.171C>T (p.Ile57=)
c.15C>T (p.Ile5=)
Xg.135985674G>ACA414606666SLC9A6c.172G>A (p.Val58Met)
c.16G>A (p.Val6Met)
Xg.135985674G>CCA414606667SLC9A6c.172G>C (p.Val58Leu)
c.16G>C (p.Val6Leu)
Xg.135985674G>TCA414606668SLC9A6c.172G>T (p.Val58Leu)
c.16G>T (p.Val6Leu)
Xg.135985675T>ACA414606669SLC9A6c.173T>A (p.Val58Glu)
c.17T>A (p.Val6Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985675T>CCA414606671SLC9A6c.173T>C (p.Val58Ala)
c.17T>C (p.Val6Ala)
Xg.135985675T>GCA414606670SLC9A6c.173T>G (p.Val58Gly)
c.17T>G (p.Val6Gly)
Xg.135985675T=CA2460185461SLC9A6c.173T= (p.Val58=)
c.17T= (p.Val6=)
Xg.135985676G>ACA518490590SLC9A6c.174G>A (p.Val58=)
c.18G>A (p.Val6=)
Xg.135985676G>CCA518490591SLC9A6c.174G>C (p.Val58=)
c.18G>C (p.Val6=)
Xg.135985676G>TCA518490593SLC9A6c.174G>T (p.Val58=)
c.18G>T (p.Val6=)
Xg.135985677T>ACA414606672SLC9A6c.175T>A (p.Ser59Thr)
c.19T>A (p.Ser7Thr)
Xg.135985677T>CCA414606673SLC9A6c.175T>C (p.Ser59Pro)
c.19T>C (p.Ser7Pro)
Xg.135985677T>GCA414606674SLC9A6c.175T>G (p.Ser59Ala)
c.19T>G (p.Ser7Ala)
gnomAD v4
Xg.135985678C>ACA414606675SLC9A6c.176C>A (p.Ser59Tyr)
c.20C>A (p.Ser7Tyr)
gnomAD v4
Xg.135985678C>GCA414606676SLC9A6c.176C>G (p.Ser59Cys)
c.20C>G (p.Ser7Cys)
Xg.135985678C>TCA414606677SLC9A6c.176C>T (p.Ser59Phe)
c.20C>T (p.Ser7Phe)
Xg.135985679C>ACA518490597SLC9A6c.177C>A (p.Ser59=)
c.21C>A (p.Ser7=)
Xg.135985679C=CA2460185462SLC9A6c.177C= (p.Ser59=)
c.21C= (p.Ser7=)
Xg.135985679C>GCA10524606SLC9A6c.177C>G (p.Ser59=)
c.21C>G (p.Ser7=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.135985679C>TCA518490598SLC9A6c.177C>T (p.Ser59=)
c.21C>T (p.Ser7=)
dbSNP gnomAD v2 gnomAD v4
Xg.135985680G>ACA414606678SLC9A6c.178G>A (p.Glu60Lys)
c.22G>A (p.Glu8Lys)
Xg.135985680G>CCA414606679SLC9A6c.178G>C (p.Glu60Gln)
c.22G>C (p.Glu8Gln)
ClinVar dbSNP
Xg.135985680G>TCA414606680SLC9A6c.178G>T (p.Glu60Ter)
c.22G>T (p.Glu8Ter)
Xg.135985681A>CCA414606681SLC9A6c.179A>C (p.Glu60Ala)
c.23A>C (p.Glu8Ala)
Xg.135985681A>GCA414606682SLC9A6c.179A>G (p.Glu60Gly)
c.23A>G (p.Glu8Gly)
Xg.135985681A>TCA414606683SLC9A6c.179A>T (p.Glu60Val)
c.23A>T (p.Glu8Val)
Xg.135985682G>ACA518490603SLC9A6c.180G>A (p.Glu60=)
c.24G>A (p.Glu8=)
Xg.135985682G>CCA414606685SLC9A6c.180G>C (p.Glu60Asp)
c.24G>C (p.Glu8Asp)
COSMIC COSMIC
Xg.135985682G>TCA414606684SLC9A6c.180G>T (p.Glu60Asp)
c.24G>T (p.Glu8Asp)
Xg.135985683A>CCA414606686SLC9A6c.181A>C (p.Lys61Gln)
c.25A>C (p.Lys9Gln)
Xg.135985683A>GCA414606687SLC9A6c.181A>G (p.Lys61Glu)
c.25A>G (p.Lys9Glu)
Xg.135985683A>TCA414606688SLC9A6c.181A>T (p.Lys61Ter)
c.25A>T (p.Lys9Ter)
Xg.135985684A=CA2460185464SLC9A6c.182A= (p.Lys61=)
c.26A= (p.Lys9=)
Xg.135985684A>CCA414606689SLC9A6c.182A>C (p.Lys61Thr)
c.26A>C (p.Lys9Thr)
Xg.135985684A>GCA10524607SLC9A6c.182A>G (p.Lys61Arg)
c.26A>G (p.Lys9Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985684A>TCA414606690SLC9A6c.182A>T (p.Lys61Met)
c.26A>T (p.Lys9Met)
Xg.135985684_135985685delinsAGCA2460185463SLC9A6c.182_183delinsAG (p.Lys61=)
c.26_27delinsAG (p.Lys9=)
Xg.135985685_135985687delCA2546487587SLC9A6c.183_185del (p.Gln62del)
c.27_29del (p.Gln10del)
Xg.135985685delCA173495SLC9A6c.183del (p.Lys61AsnfsTer?)
c.27del (p.Lys9AsnfsTer?)
ClinVar dbSNP
Xg.135985685G>ACA518490611SLC9A6c.183G>A (p.Lys61=)
c.27G>A (p.Lys9=)
Xg.135985685G>CCA414606691SLC9A6c.183G>C (p.Lys61Asn)
c.27G>C (p.Lys9Asn)
Xg.135985685G>TCA414606692SLC9A6c.183G>T (p.Lys61Asn)
c.27G>T (p.Lys9Asn)
Xg.135985686C>ACA414606693SLC9A6c.184C>A (p.Gln62Lys)
c.28C>A (p.Gln10Lys)
Xg.135985686C>GCA414606694SLC9A6c.184C>G (p.Gln62Glu)
c.28C>G (p.Gln10Glu)
Xg.135985686C>TCA414606695SLC9A6c.184C>T (p.Gln62Ter)
c.28C>T (p.Gln10Ter)
Xg.135985687A>CCA414606696SLC9A6c.185A>C (p.Gln62Pro)
c.29A>C (p.Gln10Pro)
Xg.135985687A>GCA414606698SLC9A6c.185A>G (p.Gln62Arg)
c.29A>G (p.Gln10Arg)
Xg.135985687A>TCA414606697SLC9A6c.185A>T (p.Gln62Leu)
c.29A>T (p.Gln10Leu)
Xg.135985688A>CCA414606699SLC9A6c.186A>C (p.Gln62His)
c.30A>C (p.Gln10His)
Xg.135985688A>GCA518490617SLC9A6c.186A>G (p.Gln62=)
c.30A>G (p.Gln10=)
Xg.135985688A>TCA414606700SLC9A6c.186A>T (p.Gln62His)
c.30A>T (p.Gln10His)
Xg.135985689G>ACA414606701SLC9A6c.187G>A (p.Ala63Thr)
c.31G>A (p.Ala11Thr)
Xg.135985689G>CCA414606702SLC9A6c.187G>C (p.Ala63Pro)
c.31G>C (p.Ala11Pro)
Xg.135985689G>TCA414606703SLC9A6c.187G>T (p.Ala63Ser)
c.31G>T (p.Ala11Ser)
Xg.135985690C>ACA414606704SLC9A6c.188C>A (p.Ala63Asp)
c.32C>A (p.Ala11Asp)
Xg.135985690C>GCA414606705SLC9A6c.188C>G (p.Ala63Gly)
c.32C>G (p.Ala11Gly)
Xg.135985690C>TCA414606706SLC9A6c.188C>T (p.Ala63Val)
c.32C>T (p.Ala11Val)
Xg.135985690_135985691insGGCA2568827979SLC9A6c.188_189insGG (p.Glu64AlafsTer?)
c.32_33insGG (p.Glu12AlafsTer?)
Xg.135985691C>ACA518490621SLC9A6c.189C>A (p.Ala63=)
c.33C>A (p.Ala11=)
Xg.135985691C=CA2460185465SLC9A6c.189C= (p.Ala63=)
c.33C= (p.Ala11=)
Xg.135985691C>GCA10524608SLC9A6c.189C>G (p.Ala63=)
c.33C>G (p.Ala11=)
dbSNP ExAC
Xg.135985691C>TCA518490625SLC9A6c.189C>T (p.Ala63=)
c.33C>T (p.Ala11=)
COSMIC COSMIC
Xg.135985692G>ACA414606707SLC9A6c.190G>A (p.Glu64Lys)
c.34G>A (p.Glu12Lys)
Xg.135985692G>CCA414606708SLC9A6c.190G>C (p.Glu64Gln)
c.34G>C (p.Glu12Gln)
Xg.135985692G>TCA414606709SLC9A6c.190G>T (p.Glu64Ter)
c.34G>T (p.Glu12Ter)
Xg.135985692dupCA2560147454SLC9A6c.190dup (p.Glu64GlyfsTer?)
c.34dup (p.Glu12GlyfsTer?)
Xg.135985693A>CCA414606710SLC9A6c.191A>C (p.Glu64Ala)
c.35A>C (p.Glu12Ala)
Xg.135985693A>GCA414606711SLC9A6c.191A>G (p.Glu64Gly)
c.35A>G (p.Glu12Gly)
Xg.135985693A>TCA414606712SLC9A6c.191A>T (p.Glu64Val)
c.35A>T (p.Glu12Val)
Xg.135985694G>ACA518490632SLC9A6c.192G>A (p.Glu64=)
c.36G>A (p.Glu12=)
Xg.135985694G>CCA414606713SLC9A6c.192G>C (p.Glu64Asp)
c.36G>C (p.Glu12Asp)
gnomAD v4
Xg.135985694G>TCA414606714SLC9A6c.192G>T (p.Glu64Asp)
c.36G>T (p.Glu12Asp)
Xg.135985695G>ACA414606715SLC9A6c.193G>A (p.Glu65Lys)
c.37G>A (p.Glu13Lys)
Xg.135985695G>CCA414606716SLC9A6c.193G>C (p.Glu65Gln)
c.37G>C (p.Glu13Gln)
Xg.135985695G=CA2460185466SLC9A6c.193G= (p.Glu65=)
c.37G= (p.Glu13=)
Xg.135985695G>TCA10524609SLC9A6c.193G>T (p.Glu65Ter)
c.37G>T (p.Glu13Ter)
dbSNP ExAC
Xg.135985696A>CCA414606717SLC9A6c.194A>C (p.Glu65Ala)
c.38A>C (p.Glu13Ala)
Xg.135985696A>GCA414606718SLC9A6c.194A>G (p.Glu65Gly)
c.38A>G (p.Glu13Gly)
Xg.135985696A>TCA414606719SLC9A6c.194A>T (p.Glu65Val)
c.38A>T (p.Glu13Val)
Xg.135985697G>ACA518490635SLC9A6c.195G>A (p.Glu65=)
c.39G>A (p.Glu13=)
dbSNP gnomAD v3 gnomAD v4
Xg.135985697G>CCA414606720SLC9A6c.195G>C (p.Glu65Asp)
c.39G>C (p.Glu13Asp)
Xg.135985697G=CA2460185467SLC9A6c.195G= (p.Glu65=)
c.39G= (p.Glu13=)
Xg.135985697G>TCA414606721SLC9A6c.195G>T (p.Glu65Asp)
c.39G>T (p.Glu13Asp)
Xg.135985698A>CCA414606722SLC9A6c.196A>C (p.Ser66Arg)
c.40A>C (p.Ser14Arg)
Xg.135985698A>GCA414606723SLC9A6c.196A>G (p.Ser66Gly)
c.40A>G (p.Ser14Gly)
Xg.135985698A>TCA414606724SLC9A6c.196A>T (p.Ser66Cys)
c.40A>T (p.Ser14Cys)
Xg.135985699G>ACA414606727SLC9A6c.197G>A (p.Ser66Asn)
c.41G>A (p.Ser14Asn)
Xg.135985699G>CCA414606726SLC9A6c.197G>C (p.Ser66Thr)
c.41G>C (p.Ser14Thr)
Xg.135985699G>TCA414606725SLC9A6c.197G>T (p.Ser66Ile)
c.41G>T (p.Ser14Ile)
Xg.135985700C>ACA414606728SLC9A6c.198C>A (p.Ser66Arg)
c.42C>A (p.Ser14Arg)
Xg.135985700C=CA2460185468SLC9A6c.198C= (p.Ser66=)
c.42C= (p.Ser14=)
Xg.135985700C>GCA414606729SLC9A6c.198C>G (p.Ser66Arg)
c.42C>G (p.Ser14Arg)
Xg.135985700C>TCA16608698SLC9A6c.198C>T (p.Ser66=)
c.42C>T (p.Ser14=)
ClinVar dbSNP gnomAD v4
Xg.135985701C>ACA414606730SLC9A6c.199C>A (p.His67Asn)
c.43C>A (p.His15Asn)
Xg.135985701C>GCA414606731SLC9A6c.199C>G (p.His67Asp)
c.43C>G (p.His15Asp)
Xg.135985701C>TCA414606732SLC9A6c.199C>T (p.His67Tyr)
c.43C>T (p.His15Tyr)
Xg.135985702A>CCA414606733SLC9A6c.200A>C (p.His67Pro)
c.44A>C (p.His15Pro)
Xg.135985702A>GCA414606734SLC9A6c.200A>G (p.His67Arg)
c.44A>G (p.His15Arg)
Xg.135985702A>TCA414606735SLC9A6c.200A>T (p.His67Leu)
c.44A>T (p.His15Leu)
Xg.135985703C>ACA414606736SLC9A6c.201C>A (p.His67Gln)
c.45C>A (p.His15Gln)
Xg.135985703C>GCA414606737SLC9A6c.201C>G (p.His67Gln)
c.45C>G (p.His15Gln)
Xg.135985703C>TCA518490643SLC9A6c.201C>T (p.His67=)
c.45C>T (p.His15=)
gnomAD v4
Xg.135985704C>ACA518490644SLC9A6c.202C>A (p.Arg68=)
c.46C>A (p.Arg16=)
Xg.135985704C>GCA414606738SLC9A6c.202C>G (p.Arg68Gly)
c.46C>G (p.Arg16Gly)
Xg.135985704C>TCA414606739SLC9A6c.202C>T (p.Arg68Trp)
c.46C>T (p.Arg16Trp)
COSMIC
Xg.135985705G>ACA414606742SLC9A6c.203G>A (p.Arg68Gln)
c.47G>A (p.Arg16Gln)
Xg.135985705G>CCA414606740SLC9A6c.203G>C (p.Arg68Pro)
c.47G>C (p.Arg16Pro)
Xg.135985705G>TCA414606741SLC9A6c.203G>T (p.Arg68Leu)
c.47G>T (p.Arg16Leu)
Xg.135985706G>ACA518490648SLC9A6c.204G>A (p.Arg68=)
c.48G>A (p.Arg16=)
Xg.135985706G>CCA518490649SLC9A6c.204G>C (p.Arg68=)
c.48G>C (p.Arg16=)
dbSNP
Xg.135985706G=CA2460185469SLC9A6c.204G= (p.Arg68=)
c.48G= (p.Arg16=)
Xg.135985706G>TCA518490650SLC9A6c.204G>T (p.Arg68=)
c.48G>T (p.Arg16=)
Xg.135985707C>ACA414606743SLC9A6c.205C>A (p.Gln69Lys)
c.49C>A (p.Gln17Lys)
Xg.135985707C>GCA414606744SLC9A6c.205C>G (p.Gln69Glu)
c.49C>G (p.Gln17Glu)
Xg.135985707C>TCA414606745SLC9A6c.205C>T (p.Gln69Ter)
c.49C>T (p.Gln17Ter)
Xg.135985708A>CCA414606746SLC9A6c.206A>C (p.Gln69Pro)
c.50A>C (p.Gln17Pro)
Xg.135985708A>GCA414606747SLC9A6c.206A>G (p.Gln69Arg)
c.50A>G (p.Gln17Arg)
gnomAD v4
Xg.135985708A>TCA414606748SLC9A6c.206A>T (p.Gln69Leu)
c.50A>T (p.Gln17Leu)
Xg.135985709G>ACA518490653SLC9A6c.207G>A (p.Gln69=)
c.51G>A (p.Gln17=)
Xg.135985709G>CCA414606749SLC9A6c.207G>C (p.Gln69His)
c.51G>C (p.Gln17His)
Xg.135985709G>TCA414606750SLC9A6c.207G>T (p.Gln69His)
c.51G>T (p.Gln17His)
Xg.135985710G>ACA414606751SLC9A6c.208G>A (p.Asp70Asn)
c.52G>A (p.Asp18Asn)
Xg.135985710G>CCA414606752SLC9A6c.208G>C (p.Asp70His)
c.52G>C (p.Asp18His)
Xg.135985710G>TCA414606753SLC9A6c.208G>T (p.Asp70Tyr)
c.52G>T (p.Asp18Tyr)
Xg.135985711A=CA2460185470SLC9A6c.209A= (p.Asp70=)
c.53A= (p.Asp18=)
Xg.135985711A>CCA414606756SLC9A6c.209A>C (p.Asp70Ala)
c.53A>C (p.Asp18Ala)
Xg.135985711A>GCA414606755SLC9A6c.209A>G (p.Asp70Gly)
c.53A>G (p.Asp18Gly)
dbSNP gnomAD v2
Xg.135985711A>TCA414606754SLC9A6c.209A>T (p.Asp70Val)
c.53A>T (p.Asp18Val)
Xg.135985712C>ACA414606757SLC9A6c.210C>A (p.Asp70Glu)
c.54C>A (p.Asp18Glu)
Xg.135985712C=CA2460185471SLC9A6c.210C= (p.Asp70=)
c.54C= (p.Asp18=)
Xg.135985712C>GCA414606758SLC9A6c.210C>G (p.Asp70Glu)
c.54C>G (p.Asp18Glu)
gnomAD v4
Xg.135985712C>TCA518490660SLC9A6c.210C>T (p.Asp70=)
c.54C>T (p.Asp18=)
ClinVar dbSNP
Xg.135985713A=CA2460185472SLC9A6c.211A= (p.Ser71=)
c.55A= (p.Ser19=)
Xg.135985713A>CCA414606759SLC9A6c.211A>C (p.Ser71Arg)
c.55A>C (p.Ser19Arg)
dbSNP
Xg.135985713A>GCA414606761SLC9A6c.211A>G (p.Ser71Gly)
c.55A>G (p.Ser19Gly)
ClinVar
Xg.135985713A>TCA414606760SLC9A6c.211A>T (p.Ser71Cys)
c.55A>T (p.Ser19Cys)
Xg.135985714G>ACA414606762SLC9A6c.212G>A (p.Ser71Asn)
c.56G>A (p.Ser19Asn)
Xg.135985714G>CCA414606763SLC9A6c.212G>C (p.Ser71Thr)
c.56G>C (p.Ser19Thr)
Xg.135985714G>TCA414606764SLC9A6c.212G>T (p.Ser71Ile)
c.56G>T (p.Ser19Ile)
Xg.135985715C>ACA414606765SLC9A6c.213C>A (p.Ser71Arg)
c.57C>A (p.Ser19Arg)
Xg.135985715C=CA2460185473SLC9A6c.213C= (p.Ser71=)
c.57C= (p.Ser19=)
Xg.135985715C>GCA414606766SLC9A6c.213C>G (p.Ser71Arg)
c.57C>G (p.Ser19Arg)
Xg.135985715C>TCA10524610SLC9A6c.213C>T (p.Ser71=)
c.57C>T (p.Ser19=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985716G>ACA414606767SLC9A6c.214G>A (p.Ala72Thr)
c.58G>A (p.Ala20Thr)
n.1G>A
c.1G>A (p.Ala1Thr)
Xg.135985716G>CCA414606768SLC9A6c.214G>C (p.Ala72Pro)
c.58G>C (p.Ala20Pro)
n.1G>C
c.1G>C (p.Ala1Pro)
Xg.135985716G>TCA414606769SLC9A6c.214G>T (p.Ala72Ser)
c.58G>T (p.Ala20Ser)
n.1G>T
c.1G>T (p.Ala1Ser)
COSMIC COSMIC
Xg.135985717C>ACA414606770SLC9A6c.215C>A (p.Ala72Asp)
c.59C>A (p.Ala20Asp)
n.2C>A
c.2C>A (p.Ala1Asp)
Xg.135985717C>GCA414606771SLC9A6c.215C>G (p.Ala72Gly)
c.59C>G (p.Ala20Gly)
n.2C>G
c.2C>G (p.Ala1Gly)
Xg.135985717C>TCA414606772SLC9A6c.215C>T (p.Ala72Val)
c.59C>T (p.Ala20Val)
n.2C>T
c.2C>T (p.Ala1Val)
Xg.135985718C>ACA518490661SLC9A6c.216C>A (p.Ala72=)
c.60C>A (p.Ala20=)
n.3C>A
c.3C>A (p.Ala1=)
n.1C>A
Xg.135985718C>GCA518490662SLC9A6c.216C>G (p.Ala72=)
c.60C>G (p.Ala20=)
n.3C>G
c.3C>G (p.Ala1=)
n.1C>G
Xg.135985718C>TCA518490663SLC9A6c.216C>T (p.Ala72=)
c.60C>T (p.Ala20=)
n.3C>T
c.3C>T (p.Ala1=)
n.1C>T
gnomAD v4
Xg.135985719A>CCA414606775SLC9A6c.217A>C (p.Asn73His)
c.61A>C (p.Asn21His)
n.4A>C
c.4A>C (p.Asn2His)
n.2A>C
Xg.135985719A>GCA414606773SLC9A6c.217A>G (p.Asn73Asp)
c.61A>G (p.Asn21Asp)
n.4A>G
c.4A>G (p.Asn2Asp)
n.2A>G
Xg.135985719A>TCA414606774SLC9A6c.217A>T (p.Asn73Tyr)
c.61A>T (p.Asn21Tyr)
n.4A>T
c.4A>T (p.Asn2Tyr)
n.2A>T
Xg.135985720A>CCA414606776SLC9A6c.218A>C (p.Asn73Thr)
c.62A>C (p.Asn21Thr)
n.5A>C
c.5A>C (p.Asn2Thr)
n.3A>C
COSMIC COSMIC
Xg.135985720A>GCA414606777SLC9A6c.218A>G (p.Asn73Ser)
c.62A>G (p.Asn21Ser)
n.5A>G
c.5A>G (p.Asn2Ser)
n.3A>G
Xg.135985720A>TCA414606778SLC9A6c.218A>T (p.Asn73Ile)
c.62A>T (p.Asn21Ile)
n.5A>T
c.5A>T (p.Asn2Ile)
n.3A>T
Xg.135985721C>ACA414606779SLC9A6c.219C>A (p.Asn73Lys)
c.63C>A (p.Asn21Lys)
n.6C>A
c.6C>A (p.Asn2Lys)
n.4C>A
Xg.135985721C>GCA414606780SLC9A6c.219C>G (p.Asn73Lys)
c.63C>G (p.Asn21Lys)
n.6C>G
c.6C>G (p.Asn2Lys)
n.4C>G
Xg.135985721C>TCA518490664SLC9A6c.219C>T (p.Asn73=)
c.63C>T (p.Asn21=)
n.6C>T
c.6C>T (p.Asn2=)
n.4C>T
Xg.135985721_135985739delinsCCTGCTCATCTTCATCCTGCA2460185474SLC9A6c.219_237delinsCCTGCTCATCTTCATCCTG (p.Asn73=)
c.63_81delinsCCTGCTCATCTTCATCCTG (p.Asn21=)
n.6_24delinsCCTGCTCATCTTCATCCTG
c.6_24delinsCCTGCTCATCTTCATCCTG (p.Asn2=)
n.4_22delinsCCTGCTCATCTTCATCCTG
Xg.135985722C>ACA414606781SLC9A6c.220C>A (p.Leu74Met)
c.64C>A (p.Leu22Met)
n.7C>A
c.7C>A (p.Leu3Met)
n.5C>A
Xg.135985722C=CA2460185475SLC9A6c.220C= (p.Leu74=)
c.64C= (p.Leu22=)
n.7C=
c.7C= (p.Leu3=)
n.5C=
Xg.135985722C>GCA318550SLC9A6c.220C>G (p.Leu74Val)
c.64C>G (p.Leu22Val)
n.7C>G
c.7C>G (p.Leu3Val)
n.5C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985722C>TCA518490665SLC9A6c.220C>T (p.Leu74=)
c.64C>T (p.Leu22=)
n.7C>T
c.7C>T (p.Leu3=)
n.5C>T
Xg.135985729_135985746delCA915952375SLC9A6c.227_244del (p.Ile76_Leu81del)
c.71_88del (p.Ile24_Leu29del)
n.14_31del
c.14_31del (p.Ile5_Leu10del)
n.12_29del
ClinVar dbSNP
Xg.135985723T>ACA414606782SLC9A6c.221T>A (p.Leu74Gln)
c.65T>A (p.Leu22Gln)
n.8T>A
c.8T>A (p.Leu3Gln)
n.6T>A
Xg.135985723T>CCA414606783SLC9A6c.221T>C (p.Leu74Pro)
c.65T>C (p.Leu22Pro)
n.8T>C
c.8T>C (p.Leu3Pro)
n.6T>C
Xg.135985723T>GCA414606784SLC9A6c.221T>G (p.Leu74Arg)
c.65T>G (p.Leu22Arg)
n.8T>G
c.8T>G (p.Leu3Arg)
n.6T>G
Xg.135985724G>ACA518490666SLC9A6c.222G>A (p.Leu74=)
c.66G>A (p.Leu22=)
n.9G>A
c.9G>A (p.Leu3=)
n.7G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985724G>CCA518490667SLC9A6c.222G>C (p.Leu74=)
c.66G>C (p.Leu22=)
n.9G>C
c.9G>C (p.Leu3=)
n.7G>C
gnomAD v4
Xg.135985724G=CA2460185476SLC9A6c.222G= (p.Leu74=)
c.66G= (p.Leu22=)
n.9G=
c.9G= (p.Leu3=)
n.7G=
Xg.135985724G>TCA518490668SLC9A6c.222G>T (p.Leu74=)
c.66G>T (p.Leu22=)
n.9G>T
c.9G>T (p.Leu3=)
n.7G>T
Xg.135985725C>ACA414606786SLC9A6c.223C>A (p.Leu75Ile)
c.67C>A (p.Leu23Ile)
n.10C>A
c.10C>A (p.Leu4Ile)
n.8C>A
Xg.135985725C=CA2460185477SLC9A6c.223C= (p.Leu75=)
c.67C= (p.Leu23=)
n.10C=
c.10C= (p.Leu4=)
n.8C=
Xg.135985725C>GCA336084467SLC9A6c.223C>G (p.Leu75Val)
c.67C>G (p.Leu23Val)
n.10C>G
c.10C>G (p.Leu4Val)
n.8C>G
ClinVar dbSNP gnomAD v4
Xg.135985725C>TCA414606785SLC9A6c.223C>T (p.Leu75Phe)
c.67C>T (p.Leu23Phe)
n.10C>T
c.10C>T (p.Leu4Phe)
n.8C>T
dbSNP gnomAD v3 gnomAD v4
Xg.135985726T>ACA414606787SLC9A6c.224T>A (p.Leu75His)
c.68T>A (p.Leu23His)
n.11T>A
c.11T>A (p.Leu4His)
n.9T>A
Xg.135985726T>CCA414606788SLC9A6c.224T>C (p.Leu75Pro)
c.68T>C (p.Leu23Pro)
n.11T>C
c.11T>C (p.Leu4Pro)
n.9T>C
Xg.135985726T>GCA414606789SLC9A6c.224T>G (p.Leu75Arg)
c.68T>G (p.Leu23Arg)
n.11T>G
c.11T>G (p.Leu4Arg)
n.9T>G
Xg.135985727C>ACA518490669SLC9A6c.225C>A (p.Leu75=)
c.69C>A (p.Leu23=)
n.12C>A
c.12C>A (p.Leu4=)
n.10C>A
Xg.135985727C=CA2460185478SLC9A6c.225C= (p.Leu75=)
c.69C= (p.Leu23=)
n.12C=
c.12C= (p.Leu4=)
n.10C=
Xg.135985727C>GCA518490670SLC9A6c.225C>G (p.Leu75=)
c.69C>G (p.Leu23=)
n.12C>G
c.12C>G (p.Leu4=)
n.10C>G
Xg.135985727C>TCA518490671SLC9A6c.225C>T (p.Leu75=)
c.69C>T (p.Leu23=)
n.12C>T
c.12C>T (p.Leu4=)
n.10C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.135985728A>CCA414606790SLC9A6c.226A>C (p.Ile76Leu)
c.70A>C (p.Ile24Leu)
n.13A>C
c.13A>C (p.Ile5Leu)
n.11A>C
Xg.135985728A>GCA414606791SLC9A6c.226A>G (p.Ile76Val)
c.70A>G (p.Ile24Val)
n.13A>G
c.13A>G (p.Ile5Val)
n.11A>G
gnomAD v4
Xg.135985728A>TCA414606792SLC9A6c.226A>T (p.Ile76Phe)
c.70A>T (p.Ile24Phe)
n.13A>T
c.13A>T (p.Ile5Phe)
n.11A>T
Xg.135985729T>ACA414606793SLC9A6c.227T>A (p.Ile76Asn)
c.71T>A (p.Ile24Asn)
n.14T>A
c.14T>A (p.Ile5Asn)
n.12T>A
Xg.135985729T>CCA414606794SLC9A6c.227T>C (p.Ile76Thr)
c.71T>C (p.Ile24Thr)
n.14T>C
c.14T>C (p.Ile5Thr)
n.12T>C
Xg.135985729T>GCA414606795SLC9A6c.227T>G (p.Ile76Ser)
c.71T>G (p.Ile24Ser)
n.14T>G
c.14T>G (p.Ile5Ser)
n.12T>G
Xg.135985730C>ACA518490673SLC9A6c.228C>A (p.Ile76=)
c.72C>A (p.Ile24=)
n.15C>A
c.15C>A (p.Ile5=)
n.13C>A
Xg.135985730C>GCA414606796SLC9A6c.228C>G (p.Ile76Met)
c.72C>G (p.Ile24Met)
n.15C>G
c.15C>G (p.Ile5Met)
n.13C>G
Xg.135985730C>TCA518490672SLC9A6c.228C>T (p.Ile76=)
c.72C>T (p.Ile24=)
n.15C>T
c.15C>T (p.Ile5=)
n.13C>T
gnomAD v4
Xg.135985731T>ACA414606797SLC9A6c.229T>A (p.Phe77Ile)
c.73T>A (p.Phe25Ile)
n.16T>A
c.16T>A (p.Phe6Ile)
n.14T>A
COSMIC COSMIC
Xg.135985731T>CCA414606798SLC9A6c.229T>C (p.Phe77Leu)
c.73T>C (p.Phe25Leu)
n.16T>C
c.16T>C (p.Phe6Leu)
n.14T>C
Xg.135985731T>GCA414606799SLC9A6c.229T>G (p.Phe77Val)
c.73T>G (p.Phe25Val)
n.16T>G
c.16T>G (p.Phe6Val)
n.14T>G
Xg.135985732T>ACA414606800SLC9A6c.230T>A (p.Phe77Tyr)
c.74T>A (p.Phe25Tyr)
n.17T>A
c.17T>A (p.Phe6Tyr)
n.15T>A
Xg.135985732T>CCA414606802SLC9A6c.230T>C (p.Phe77Ser)
c.74T>C (p.Phe25Ser)
n.17T>C
c.17T>C (p.Phe6Ser)
n.15T>C
Xg.135985732T>GCA414606801SLC9A6c.230T>G (p.Phe77Cys)
c.74T>G (p.Phe25Cys)
n.17T>G
c.17T>G (p.Phe6Cys)
n.15T>G
Xg.135985733C>ACA414606803SLC9A6c.231C>A (p.Phe77Leu)
c.75C>A (p.Phe25Leu)
n.18C>A
c.18C>A (p.Phe6Leu)
n.16C>A
Xg.135985733C=CA2460185479SLC9A6c.231C= (p.Phe77=)
c.75C= (p.Phe25=)
n.18C=
c.18C= (p.Phe6=)
n.16C=
Xg.135985733C>GCA414606804SLC9A6c.231C>G (p.Phe77Leu)
c.75C>G (p.Phe25Leu)
n.18C>G
c.18C>G (p.Phe6Leu)
n.16C>G
Xg.135985733C>TCA336084468SLC9A6c.231C>T (p.Phe77=)
c.75C>T (p.Phe25=)
n.18C>T
c.18C>T (p.Phe6=)
n.16C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.135985734A>CCA414606805SLC9A6c.232A>C (p.Ile78Leu)
c.76A>C (p.Ile26Leu)
n.19A>C
c.19A>C (p.Ile7Leu)
n.17A>C
Xg.135985734A>GCA414606806SLC9A6c.232A>G (p.Ile78Val)
c.76A>G (p.Ile26Val)
n.19A>G
c.19A>G (p.Ile7Val)
n.17A>G
ClinVar dbSNP
Xg.135985734A>TCA414606807SLC9A6c.232A>T (p.Ile78Phe)
c.76A>T (p.Ile26Phe)
n.19A>T
c.19A>T (p.Ile7Phe)
n.17A>T

Number of alleles fetched