Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.33443515C>ACA408634509SNTA1c.106G>T (p.Ala36Ser)
n.339G>T
gnomAD v4
20g.33443515C>GCA408634510SNTA1c.106G>C (p.Ala36Pro)
n.339G>C
20g.33443515C>TCA408634511SNTA1c.106G>A (p.Ala36Thr)
n.339G>A
gnomAD v4
20g.33443516delCA2652478396SNTA1c.106del (p.Ala36ArgfsTer5)
n.339del
gnomAD v4
20g.33443516C>ACA510470616SNTA1c.105G>T (p.Leu35=)
n.338G>T
gnomAD v4
20g.33443516C>GCA510470617SNTA1c.105G>C (p.Leu35=)
n.338G>C
20g.33443516C>TCA510470618SNTA1c.105G>A (p.Leu35=)
n.338G>A
gnomAD v4
20g.33443517A>CCA408634512SNTA1c.104T>G (p.Leu35Arg)
n.337T>G
20g.33443517A>GCA408634513SNTA1c.104T>C (p.Leu35Pro)
n.337T>C
gnomAD v4
20g.33443517A>TCA408634514SNTA1c.104T>A (p.Leu35Gln)
n.337T>A
20g.33443518G>ACA510470619SNTA1c.103C>T (p.Leu35=)
n.336C>T
dbSNP gnomAD v4
20g.33443518G>CCA408634515SNTA1c.103C>G (p.Leu35Val)
n.336C>G
20g.33443518G=CA2360754988SNTA1c.103C= (p.Leu35=)
n.336C=
20g.33443518G>TCA408634517SNTA1c.103C>A (p.Leu35Met)
n.336C>A
gnomAD v4
20g.33443519A>CCA408634519SNTA1c.102T>G (p.Ser34Arg)
n.335T>G
20g.33443519A>GCA510470620SNTA1c.102T>C (p.Ser34=)
n.335T>C
gnomAD v4
20g.33443519A>TCA408634521SNTA1c.102T>A (p.Ser34Arg)
n.335T>A
20g.33443520C>ACA408634522SNTA1c.101G>T (p.Ser34Ile)
n.334G>T
gnomAD v4
20g.33443520C=CA2360754989SNTA1c.101G= (p.Ser34=)
n.334G=
20g.33443520C>GCA408634524SNTA1c.101G>C (p.Ser34Thr)
n.334G>C
20g.33443520C>TCA313279110SNTA1c.101G>A (p.Ser34Asn)
n.334G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443521T>ACA408634527SNTA1c.100A>T (p.Ser34Cys)
n.333A>T
gnomAD v4
20g.33443521T>CCA408634529SNTA1c.100A>G (p.Ser34Gly)
n.333A>G
gnomAD v4
20g.33443521T>GCA408634531SNTA1c.100A>C (p.Ser34Arg)
n.333A>C
20g.33443522C>ACA510470624SNTA1c.99G>T (p.Leu33=)
n.332G>T
gnomAD v4
20g.33443522C>GCA510470625SNTA1c.99G>C (p.Leu33=)
n.332G>C
gnomAD v4
20g.33443522C>TCA510470626SNTA1c.99G>A (p.Leu33=)
n.332G>A
20g.33443527_33443529dupCA2652478397SNTA1c.97_99dup (p.Leu33_Ser34insLeu)
n.330_332dup
gnomAD v4
20g.33443523A>CCA408634533SNTA1c.98T>G (p.Leu33Arg)
n.331T>G
gnomAD v4
20g.33443523A>GCA408634534SNTA1c.98T>C (p.Leu33Pro)
n.331T>C
ClinVar gnomAD v4
20g.33443523A>TCA408634535SNTA1c.98T>A (p.Leu33Gln)
n.331T>A
20g.33443524G>ACA510470627SNTA1c.97C>T (p.Leu33=)
n.330C>T
gnomAD v4
20g.33443524G>CCA408634536SNTA1c.97C>G (p.Leu33Val)
n.330C>G
gnomAD v4
20g.33443524G>TCA408634537SNTA1c.97C>A (p.Leu33Met)
n.330C>A
gnomAD v4
20g.33443525delCA2652478398SNTA1c.96del (p.Leu33Ter)
n.329del
gnomAD v4
20g.33443525C>ACA510470628SNTA1c.96G>T (p.Leu32=)
n.329G>T
gnomAD v4
20g.33443525C>GCA510470629SNTA1c.96G>C (p.Leu32=)
n.329G>C
20g.33443525C>TCA510470630SNTA1c.96G>A (p.Leu32=)
n.329G>A
gnomAD v4
20g.33443525_33443526delCA2652478399SNTA1c.95_96del (p.Leu32ProfsTer?)
n.328_329del
gnomAD v4
20g.33443526A>CCA408634539SNTA1c.95T>G (p.Leu32Arg)
n.328T>G
20g.33443526A>GCA408634542SNTA1c.95T>C (p.Leu32Pro)
n.328T>C
gnomAD v4
20g.33443526A>TCA408634541SNTA1c.95T>A (p.Leu32Gln)
n.328T>A
20g.33443527G>ACA510470631SNTA1c.94C>T (p.Leu32=)
n.327C>T
dbSNP gnomAD v4
20g.33443527G>CCA408634544SNTA1c.94C>G (p.Leu32Val)
n.327C>G
gnomAD v4
20g.33443527G=CA2360754990SNTA1c.94C= (p.Leu32=)
n.327C=
20g.33443527G>TCA313279111SNTA1c.94C>A (p.Leu32Met)
n.327C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443528C>ACA510470632SNTA1c.93G>T (p.Val31=)
n.326G>T
gnomAD v4
20g.33443528C>GCA510470633SNTA1c.93G>C (p.Val31=)
n.326G>C
20g.33443528C>TCA510470634SNTA1c.93G>A (p.Val31=)
n.326G>A
gnomAD v4
20g.33443529A>CCA408634547SNTA1c.92T>G (p.Val31Gly)
n.325T>G
20g.33443529A>GCA408634549SNTA1c.92T>C (p.Val31Ala)
n.325T>C
gnomAD v4
20g.33443529A>TCA408634551SNTA1c.92T>A (p.Val31Glu)
n.325T>A
gnomAD v4
20g.33443530C>ACA408634553SNTA1c.91G>T (p.Val31Leu)
n.324G>T
gnomAD v4
20g.33443530C>GCA408634555SNTA1c.91G>C (p.Val31Leu)
n.324G>C
gnomAD v4
20g.33443530C>TCA408634557SNTA1c.91G>A (p.Val31Met)
n.324G>A
gnomAD v4
20g.33443532delCA2652478400SNTA1c.91del (p.Val31CysfsTer3)
n.324del
gnomAD v4
20g.33443531C>ACA510470636SNTA1c.90G>T (p.Arg30=)
n.323G>T
dbSNP gnomAD v4
20g.33443531C>GCA510470637SNTA1c.90G>C (p.Arg30=)
n.323G>C
20g.33443531C>TCA510470638SNTA1c.90G>A (p.Arg30=)
n.323G>A
gnomAD v4
20g.33443532C>ACA408634559SNTA1c.89G>T (p.Arg30Leu)
n.322G>T
gnomAD v4
20g.33443532C>GCA408634561SNTA1c.89G>C (p.Arg30Pro)
n.322G>C
gnomAD v4
20g.33443532C>TCA408634563SNTA1c.89G>A (p.Arg30Gln)
n.322G>A
ClinVar gnomAD v4
20g.33443535_33443547delCA2652478401SNTA1c.77_89del (p.Glu26GlyfsTer4)
n.310_322del
gnomAD v4
20g.33443533G>ACA408634566SNTA1c.88C>T (p.Arg30Trp)
n.321C>T
dbSNP gnomAD v3 gnomAD v4
20g.33443533G>CCA408634564SNTA1c.88C>G (p.Arg30Gly)
n.321C>G
gnomAD v4
20g.33443533G=CA2360754991SNTA1c.88C= (p.Arg30=)
n.321C=
20g.33443533G>TCA510470648SNTA1c.88C>A (p.Arg30=)
n.321C>A
gnomAD v4
20g.33443534C>ACA408634567SNTA1c.87G>T (p.Gln29His)
n.320G>T
gnomAD v4
20g.33443534C>GCA408634569SNTA1c.87G>C (p.Gln29His)
n.320G>C
20g.33443534C>TCA510470649SNTA1c.87G>A (p.Gln29=)
n.320G>A
gnomAD v4
20g.33443535T>ACA408634572SNTA1c.86A>T (p.Gln29Leu)
n.319A>T
20g.33443535T>CCA408634573SNTA1c.86A>G (p.Gln29Arg)
n.319A>G
gnomAD v4
20g.33443535T>GCA408634575SNTA1c.86A>C (p.Gln29Pro)
n.319A>C
20g.33443536G>ACA408634581SNTA1c.85C>T (p.Gln29Ter)
n.318C>T
gnomAD v4
20g.33443536G>CCA408634580SNTA1c.85C>G (p.Gln29Glu)
n.318C>G
gnomAD v4
20g.33443536G>TCA408634577SNTA1c.85C>A (p.Gln29Lys)
n.318C>A
gnomAD v4
20g.33443542_33443621delCA2652478402SNTA1c.6_85del (p.Ser3AlafsTer?)
n.239_318del
gnomAD v4
20g.33443537C>ACA408634583SNTA1c.84G>T (p.Trp28Cys)
n.317G>T
gnomAD v4
20g.33443537C>GCA408634585SNTA1c.84G>C (p.Trp28Cys)
n.317G>C
gnomAD v4
20g.33443537C>TCA408634587SNTA1c.84G>A (p.Trp28Ter)
n.317G>A
gnomAD v4
20g.33443538delCA2652478403SNTA1c.84del (p.Trp28CysfsTer6)
n.317del
gnomAD v4
20g.33443538C>ACA408634589SNTA1c.83G>T (p.Trp28Leu)
n.316G>T
dbSNP gnomAD v4
20g.33443538C=CA2360754992SNTA1c.83G= (p.Trp28=)
n.316G=
20g.33443538C>GCA408634591SNTA1c.83G>C (p.Trp28Ser)
n.316G>C
gnomAD v4
20g.33443538C>TCA408634593SNTA1c.83G>A (p.Trp28Ter)
n.316G>A
gnomAD v4
20g.33443539A=CA2360754993SNTA1c.82T= (p.Trp28=)
n.315T=
20g.33443539A>CCA408634600SNTA1c.82T>G (p.Trp28Gly)
n.315T>G
20g.33443539A>GCA408634595SNTA1c.82T>C (p.Trp28Arg)
n.315T>C
dbSNP gnomAD v2 gnomAD v4
20g.33443539A>TCA408634598SNTA1c.82T>A (p.Trp28Arg)
n.315T>A
dbSNP gnomAD v4
20g.33443540T>ACA510470658SNTA1c.81A>T (p.Arg27=)
n.314A>T
gnomAD v4
20g.33443540T>CCA510470654SNTA1c.81A>G (p.Arg27=)
n.314A>G
gnomAD v4
20g.33443540T>GCA510470656SNTA1c.81A>C (p.Arg27=)
n.314A>C
20g.33443540_33443541insTTTCCAAGTTATTAGCA2816180531SNTA1c.80_81insCTAATAACTTGGAAA (p.Arg28Ter)
n.313_314insCTAATAACTTGGAAA
20g.33443541C>ACA408634602SNTA1c.80G>T (p.Arg27Leu)
n.313G>T
gnomAD v4
20g.33443541C>GCA408634604SNTA1c.80G>C (p.Arg27Pro)
n.313G>C
gnomAD v4
20g.33443541C>TCA408634606SNTA1c.80G>A (p.Arg27Gln)
n.313G>A
gnomAD v4
20g.33443542G>ACA408634607SNTA1c.79C>T (p.Arg27Ter)
n.312C>T
gnomAD v4
20g.33443542G>CCA408634609SNTA1c.79C>G (p.Arg27Gly)
n.312C>G
gnomAD v4
20g.33443542G>TCA510470659SNTA1c.79C>A (p.Arg27=)
n.312C>A
gnomAD v4
20g.33443543C>ACA408634611SNTA1c.78G>T (p.Glu26Asp)
n.311G>T
gnomAD v4
20g.33443543C>GCA408634612SNTA1c.78G>C (p.Glu26Asp)
n.311G>C
gnomAD v4
20g.33443543C>TCA510470660SNTA1c.78G>A (p.Glu26=)
n.311G>A
dbSNP gnomAD v4
20g.33443544T>ACA408634614SNTA1c.77A>T (p.Glu26Val)
n.310A>T
gnomAD v4
20g.33443544T>CCA408634616SNTA1c.77A>G (p.Glu26Gly)
n.310A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.33443544T>GCA408634618SNTA1c.77A>C (p.Glu26Ala)
n.310A>C
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.33443544T=CA2360754994SNTA1c.77A= (p.Glu26=)
n.310A=
20g.33443544_33443546delinsTCGCA2360754995SNTA1c.75_77delinsCGA (p.Gly25=)
n.308_310delinsCGA
20g.33443545C>ACA408634620SNTA1c.76G>T (p.Glu26Ter)
n.309G>T
gnomAD v4
20g.33443545C>GCA408634622SNTA1c.76G>C (p.Glu26Gln)
n.309G>C
20g.33443545C>TCA408634624SNTA1c.76G>A (p.Glu26Lys)
n.309G>A
gnomAD v4
20g.33443546_33443547delCA2360754996SNTA1c.75_76del (p.Glu26AlafsTer?)
n.308_309del
dbSNP gnomAD v4
20g.33443550_33443552delCA2652478404SNTA1c.74_76del (p.Gly25del)
n.307_309del
gnomAD v4
20g.33443546G>ACA510470664SNTA1c.75C>T (p.Gly25=)
n.308C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443546G>CCA510470666SNTA1c.75C>G (p.Gly25=)
n.308C>G
gnomAD v4
20g.33443546G=CA2360754997SNTA1c.75C= (p.Gly25=)
n.308C=
20g.33443546G>TCA510470665SNTA1c.75C>A (p.Gly25=)
n.308C>A
gnomAD v4
20g.33443547C>ACA408634626SNTA1c.74G>T (p.Gly25Val)
n.307G>T
gnomAD v4
20g.33443547C>GCA408634630SNTA1c.74G>C (p.Gly25Ala)
n.307G>C
gnomAD v4
20g.33443547C>TCA408634628SNTA1c.74G>A (p.Gly25Asp)
n.307G>A
gnomAD v4
20g.33443548C>ACA408634632SNTA1c.73G>T (p.Gly25Cys)
n.306G>T
gnomAD v4
20g.33443548C=CA2360754998SNTA1c.73G= (p.Gly25=)
n.306G=
20g.33443548C>GCA408634633SNTA1c.73G>C (p.Gly25Arg)
n.306G>C
20g.33443548C>TCA313279112SNTA1c.73G>A (p.Gly25Ser)
n.306G>A
dbSNP gnomAD v4
20g.33443549G>ACA510470668SNTA1c.72C>T (p.Gly24=)
n.305C>T
gnomAD v4
20g.33443549G>CCA510470669SNTA1c.72C>G (p.Gly24=)
n.305C>G
gnomAD v4
20g.33443549G>TCA510470670SNTA1c.72C>A (p.Gly24=)
n.305C>A
gnomAD v4
20g.33443550C>ACA408634636SNTA1c.71G>T (p.Gly24Val)
n.304G>T
dbSNP gnomAD v4
20g.33443550C=CA2360754999SNTA1c.71G= (p.Gly24=)
n.304G=
20g.33443550C>GCA408634637SNTA1c.71G>C (p.Gly24Ala)
n.304G>C
gnomAD v4
20g.33443550C>TCA408634639SNTA1c.71G>A (p.Gly24Asp)
n.304G>A
dbSNP gnomAD v2 gnomAD v4
20g.33443551C>ACA408634642SNTA1c.70G>T (p.Gly24Cys)
n.303G>T
gnomAD v4
20g.33443551C=CA2360755000SNTA1c.70G= (p.Gly24=)
n.303G=
20g.33443551C>GCA408634643SNTA1c.70G>C (p.Gly24Arg)
n.303G>C
gnomAD v4
20g.33443551C>TCA302324SNTA1c.70G>A (p.Gly24Ser)
n.303G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443552G>ACA510470672SNTA1c.69C>T (p.Ala23=)
n.302C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443552G>CCA510470673SNTA1c.69C>G (p.Ala23=)
n.302C>G
gnomAD v4
20g.33443552G=CA2360755001SNTA1c.69C= (p.Ala23=)
n.302C=
20g.33443552G>TCA510470674SNTA1c.69C>A (p.Ala23=)
n.302C>A
gnomAD v4
20g.33443553delCA2652478405SNTA1c.69del (p.Gly24AlafsTer10)
n.302del
gnomAD v4
20g.33443553G>ACA408634647SNTA1c.68C>T (p.Ala23Val)
n.301C>T
gnomAD v4
20g.33443553G>CCA408634649SNTA1c.68C>G (p.Ala23Gly)
n.301C>G
gnomAD v4
20g.33443553G>TCA408634651SNTA1c.68C>A (p.Ala23Asp)
n.301C>A
gnomAD v4
20g.33443553_33443554delinsGCCA2360755002SNTA1c.67_68delinsGC (p.Ala23=)
n.300_301delinsGC
20g.33443558_33443569dupCA2652478407SNTA1c.57_68dup (p.Ala23_Gly24insGlySerGlyAla)
n.290_301dup
gnomAD v4
20g.33443558_33443569delCA2652478406SNTA1c.57_68del (p.Gly20_Ala23del)
n.290_301del
gnomAD v4
20g.33443554C>ACA408634657SNTA1c.67G>T (p.Ala23Ser)
n.300G>T
ClinVar gnomAD v4
20g.33443554C>GCA408634655SNTA1c.67G>C (p.Ala23Pro)
n.300G>C
gnomAD v4
20g.33443554C>TCA408634653SNTA1c.67G>A (p.Ala23Thr)
n.300G>A
gnomAD v4
20g.33443558dupCA2652478408SNTA1c.67dup (p.Ala23GlyfsTer?)
n.300dup
gnomAD v4
20g.33443558delCA635719599SNTA1c.67del (p.Ala23ProfsTer11)
n.300del
dbSNP gnomAD v2 gnomAD v4
20g.33443557_33443558delCA2652478409SNTA1c.66_67del (p.Ala23ArgfsTer?)
n.299_300del
gnomAD v4
20g.33443555C>ACA510470675SNTA1c.66G>T (p.Gly22=)
n.299G>T
gnomAD v4
20g.33443555C>GCA510470676SNTA1c.66G>C (p.Gly22=)
n.299G>C
gnomAD v4
20g.33443555C>TCA510470678SNTA1c.66G>A (p.Gly22=)
n.299G>A
gnomAD v4
20g.33443556C>ACA408634659SNTA1c.65G>T (p.Gly22Val)
n.298G>T
gnomAD v4
20g.33443556C=CA2360755003SNTA1c.65G= (p.Gly22=)
n.298G=
20g.33443556C>GCA408634660SNTA1c.65G>C (p.Gly22Ala)
n.298G>C
gnomAD v4
20g.33443556C>TCA408634662SNTA1c.65G>A (p.Gly22Glu)
n.298G>A
dbSNP gnomAD v2 gnomAD v4
20g.33443557C>ACA408634663SNTA1c.64G>T (p.Gly22Trp)
n.297G>T
gnomAD v4
20g.33443557C=CA2360755004SNTA1c.64G= (p.Gly22=)
n.297G=
20g.33443557C>GCA408634665SNTA1c.64G>C (p.Gly22Arg)
n.297G>C
gnomAD v4
20g.33443557C>TCA313279134SNTA1c.64G>A (p.Gly22Arg)
n.297G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443565_33443636delCA2652478410SNTA1c.-8_64del
n.226_297del
gnomAD v4
20g.33443558C>ACA510470679SNTA1c.63G>T (p.Ser21=)
n.296G>T
gnomAD v4
20g.33443558C>GCA510470680SNTA1c.63G>C (p.Ser21=)
n.296G>C
gnomAD v4
20g.33443558C>TCA510470682SNTA1c.63G>A (p.Ser21=)
n.296G>A
gnomAD v4
20g.33443558_33443559delCA2652478411SNTA1c.62_63del (p.Ser21TrpfsTer?)
n.295_296del
gnomAD v4
20g.33443559G>ACA313279141SNTA1c.62C>T (p.Ser21Leu)
n.295C>T
ClinVar dbSNP gnomAD v4
20g.33443559G>CCA408634667SNTA1c.62C>G (p.Ser21Trp)
n.295C>G
20g.33443559G=CA2360755005SNTA1c.62C= (p.Ser21=)
n.295C=
20g.33443559G>TCA408634669SNTA1c.62C>A (p.Ser21Ter)
n.295C>A
gnomAD v4
20g.33443560A=CA2360755006SNTA1c.61T= (p.Ser21=)
n.294T=
20g.33443560A>CCA408634671SNTA1c.61T>G (p.Ser21Ala)
n.294T>G
20g.33443560A>GCA408634673SNTA1c.61T>C (p.Ser21Pro)
n.294T>C
dbSNP gnomAD v4
20g.33443560A>TCA408634675SNTA1c.61T>A (p.Ser21Thr)
n.294T>A
20g.33443561G>ACA510470685SNTA1c.60C>T (p.Gly20=)
n.293C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.33443561G>CCA510470686SNTA1c.60C>G (p.Gly20=)
n.293C>G
gnomAD v4
20g.33443561G=CA2360755007SNTA1c.60C= (p.Gly20=)
n.293C=
20g.33443561G>TCA510470687SNTA1c.60C>A (p.Gly20=)
n.293C>A
gnomAD v4
20g.33443564_33443643delCA2652478412SNTA1c.-20_60del
n.214_293del
gnomAD v4
20g.33443562C>ACA408634681SNTA1c.59G>T (p.Gly20Val)
n.292G>T
gnomAD v4
20g.33443562C>GCA408634679SNTA1c.59G>C (p.Gly20Ala)
n.292G>C
gnomAD v4
20g.33443562C>TCA408634677SNTA1c.59G>A (p.Gly20Asp)
n.292G>A
gnomAD v4
20g.33443564delCA2652478413SNTA1c.59del (p.Gly20AlafsTer14)
n.292del
gnomAD v4
20g.33443563C>ACA408634682SNTA1c.58G>T (p.Gly20Cys)
n.291G>T
gnomAD v4
20g.33443563C>GCA408634686SNTA1c.58G>C (p.Gly20Arg)
n.291G>C
20g.33443563C>TCA408634684SNTA1c.58G>A (p.Gly20Ser)
n.291G>A
gnomAD v4
20g.33443568_33443646delCA2652478414SNTA1c.-21_58del
n.213_291del
gnomAD v4
20g.33443564C>ACA510470689SNTA1c.57G>T (p.Ala19=)
n.290G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
20g.33443564C=CA2360755008SNTA1c.57G= (p.Ala19=)
n.290G=
20g.33443564C>GCA510470690SNTA1c.57G>C (p.Ala19=)
n.290G>C
20g.33443564C>TCA510470691SNTA1c.57G>A (p.Ala19=)
n.290G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443565delCA2652478415SNTA1c.56del (p.Ala19GlyfsTer15)
n.289del
gnomAD v4
20g.33443565G>ACA408634688SNTA1c.56C>T (p.Ala19Val)
n.289C>T
dbSNP gnomAD v4
20g.33443565G>CCA408634692SNTA1c.56C>G (p.Ala19Gly)
n.289C>G
gnomAD v4
20g.33443565G>TCA408634690SNTA1c.56C>A (p.Ala19Glu)
n.289C>A
gnomAD v4
20g.33443565_33443566insTCA2652478416SNTA1c.55_56insA (p.Ala19AspfsTer?)
n.288_289insA
gnomAD v4
20g.33443566C>ACA408634694SNTA1c.55G>T (p.Ala19Ser)
n.288G>T
gnomAD v4
20g.33443566C>GCA408634697SNTA1c.55G>C (p.Ala19Pro)
n.288G>C
gnomAD v4
20g.33443566C>TCA408634695SNTA1c.55G>A (p.Ala19Thr)
n.288G>A
gnomAD v4
20g.33443569dupCA2816180532SNTA1c.55dup (p.Ala19GlyfsTer?)
n.288dup
20g.33443569delCA2545982597SNTA1c.55del (p.Ala19ArgfsTer15)
n.288del
gnomAD v4
20g.33443566_33443587delinsCCCCGGCGCGCAGCTCCAGCAGCA2360755009SNTA1c.34_55delinsCTGCTGGAGCTGCGCGCCGGGG (p.Leu12=)
n.267_288delinsCTGCTGGAGCTGCGCGCCGGGG
20g.33443567C>ACA510470695SNTA1c.54G>T (p.Gly18=)
n.287G>T
gnomAD v4
20g.33443567C>GCA510470694SNTA1c.54G>C (p.Gly18=)
n.287G>C
20g.33443567C>TCA510470693SNTA1c.54G>A (p.Gly18=)
n.287G>A
ClinVar dbSNP gnomAD v4
20g.33443572_33443592delCA635719600SNTA1c.34_54del (p.Leu12_Gly18del)
n.267_287del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443568C>ACA408634699SNTA1c.53G>T (p.Gly18Val)
n.286G>T
gnomAD v4
20g.33443568C=CA2360755010SNTA1c.53G= (p.Gly18=)
n.286G=
20g.33443568C>GCA313279142SNTA1c.53G>C (p.Gly18Ala)
n.286G>C
dbSNP
20g.33443568C>TCA408634700SNTA1c.53G>A (p.Gly18Glu)
n.286G>A
gnomAD v4
20g.33443569C>ACA408634703SNTA1c.52G>T (p.Gly18Trp)
n.285G>T
dbSNP gnomAD v4
20g.33443569C=CA2360755011SNTA1c.52G= (p.Gly18=)
n.285G=
20g.33443569C>GCA408634707SNTA1c.52G>C (p.Gly18Arg)
n.285G>C
gnomAD v4
20g.33443569C>TCA408634708SNTA1c.52G>A (p.Gly18Arg)
n.285G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443570G>ACA510470697SNTA1c.51C>T (p.Ala17=)
n.284C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
20g.33443570G>CCA510470698SNTA1c.51C>G (p.Ala17=)
n.284C>G
gnomAD v4
20g.33443570G=CA2360755012SNTA1c.51C= (p.Ala17=)
n.284C=
20g.33443570G>TCA510470699SNTA1c.51C>A (p.Ala17=)
n.284C>A
gnomAD v4
20g.33443571G>ACA408634710SNTA1c.50C>T (p.Ala17Val)
n.283C>T
dbSNP gnomAD v4
20g.33443571G>CCA408634712SNTA1c.50C>G (p.Ala17Gly)
n.283C>G
gnomAD v4
20g.33443571G=CA2360755013SNTA1c.50C= (p.Ala17=)
n.283C=
20g.33443571G>TCA408634713SNTA1c.50C>A (p.Ala17Asp)
n.283C>A
gnomAD v4
20g.33443572C>ACA408634714SNTA1c.49G>T (p.Ala17Ser)
n.282G>T
gnomAD v4
20g.33443572C=CA2360755014SNTA1c.49G= (p.Ala17=)
n.282G=
20g.33443572C>GCA408634716SNTA1c.49G>C (p.Ala17Pro)
n.282G>C
gnomAD v4
20g.33443572C>TCA408634718SNTA1c.49G>A (p.Ala17Thr)
n.282G>A
ClinVar dbSNP gnomAD v4
20g.33443573G>ACA510470702SNTA1c.48C>T (p.Arg16=)
n.281C>T
gnomAD v4
20g.33443573G>CCA510470704SNTA1c.48C>G (p.Arg16=)
n.281C>G
gnomAD v4
20g.33443573G>TCA510470703SNTA1c.48C>A (p.Arg16=)
n.281C>A
gnomAD v4
20g.33443574C>ACA408634724SNTA1c.47G>T (p.Arg16Leu)
n.280G>T
gnomAD v4
20g.33443574C=CA2360755015SNTA1c.47G= (p.Arg16=)
n.280G=
20g.33443574C>GCA408634722SNTA1c.47G>C (p.Arg16Pro)
n.280G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.33443574C>TCA408634720SNTA1c.47G>A (p.Arg16His)
n.280G>A
gnomAD v4
20g.33443575G>ACA408634726SNTA1c.46C>T (p.Arg16Cys)
n.279C>T
gnomAD v4
20g.33443575G>CCA408634727SNTA1c.46C>G (p.Arg16Gly)
n.279C>G
gnomAD v4
20g.33443575G>TCA408634729SNTA1c.46C>A (p.Arg16Ser)
n.279C>A
gnomAD v4
20g.33443576C>ACA510470706SNTA1c.45G>T (p.Leu15=)
n.278G>T
gnomAD v4
20g.33443576C>GCA510470708SNTA1c.45G>C (p.Leu15=)
n.278G>C
gnomAD v4
20g.33443576C>TCA510470709SNTA1c.45G>A (p.Leu15=)
n.278G>A
gnomAD v4
20g.33443577A>CCA408634731SNTA1c.44T>G (p.Leu15Arg)
n.277T>G
20g.33443577A>GCA408634733SNTA1c.44T>C (p.Leu15Pro)
n.277T>C
gnomAD v4
20g.33443577A>TCA408634735SNTA1c.44T>A (p.Leu15Gln)
n.277T>A
20g.33443578delCA2652478417SNTA1c.43del (p.Leu15CysfsTer19)
n.276del
gnomAD v4
20g.33443578G>ACA510470711SNTA1c.43C>T (p.Leu15=)
n.276C>T
gnomAD v4
20g.33443578G>CCA408634736SNTA1c.43C>G (p.Leu15Val)
n.276C>G
gnomAD v4
20g.33443578G>TCA408634738SNTA1c.43C>A (p.Leu15Met)
n.276C>A
gnomAD v4
20g.33443579C>ACA408634740SNTA1c.42G>T (p.Glu14Asp)
n.275G>T
gnomAD v4
20g.33443579C=CA2360755016SNTA1c.42G= (p.Glu14=)
n.275G=
20g.33443579C>GCA408634742SNTA1c.42G>C (p.Glu14Asp)
n.275G>C
dbSNP gnomAD v4
20g.33443579C>TCA510470712SNTA1c.42G>A (p.Glu14=)
n.275G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.33443580T>ACA408634743SNTA1c.41A>T (p.Glu14Val)
n.274A>T
gnomAD v4
20g.33443580T>CCA408634745SNTA1c.41A>G (p.Glu14Gly)
n.274A>G
gnomAD v4
20g.33443580T>GCA408634747SNTA1c.41A>C (p.Glu14Ala)
n.274A>C
20g.33443581C>ACA408634751SNTA1c.40G>T (p.Glu14Ter)
n.273G>T
gnomAD v4
20g.33443581C=CA2360755017SNTA1c.40G= (p.Glu14=)
n.273G=
20g.33443581C>GCA408634752SNTA1c.40G>C (p.Glu14Gln)
n.273G>C
gnomAD v4
20g.33443581C>TCA302321SNTA1c.40G>A (p.Glu14Lys)
n.273G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443582delCA2652478418SNTA1c.40del (p.Glu14SerfsTer20)
n.273del
gnomAD v4
20g.33443582C>ACA510470716SNTA1c.39G>T (p.Leu13=)
n.272G>T
gnomAD v4
20g.33443582C>GCA510470717SNTA1c.39G>C (p.Leu13=)
n.272G>C
gnomAD v4
20g.33443582C>TCA510470718SNTA1c.39G>A (p.Leu13=)
n.272G>A
gnomAD v4
20g.33443583A>CCA408634754SNTA1c.38T>G (p.Leu13Arg)
n.271T>G
gnomAD v4
20g.33443583A>GCA408634756SNTA1c.38T>C (p.Leu13Pro)
n.271T>C
gnomAD v4
20g.33443583A>TCA408634758SNTA1c.38T>A (p.Leu13Gln)
n.271T>A
gnomAD v4
20g.33443584G>ACA510470720SNTA1c.37C>T (p.Leu13=)
n.270C>T
gnomAD v4
20g.33443584G>CCA408634760SNTA1c.37C>G (p.Leu13Val)
n.270C>G
gnomAD v4
20g.33443584G>TCA408634762SNTA1c.37C>A (p.Leu13Met)
n.270C>A
gnomAD v4
20g.33443585C>ACA510470723SNTA1c.36G>T (p.Leu12=)
n.269G>T
dbSNP gnomAD v4
20g.33443585C=CA2360755018SNTA1c.36G= (p.Leu12=)
n.269G=
20g.33443585C>GCA313279146SNTA1c.36G>C (p.Leu12=)
n.269G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443585C>TCA510470724SNTA1c.36G>A (p.Leu12=)
n.269G>A
dbSNP gnomAD v4
20g.33443586A>CCA408634764SNTA1c.35T>G (p.Leu12Arg)
n.268T>G
20g.33443586A>GCA408634766SNTA1c.35T>C (p.Leu12Pro)
n.268T>C
gnomAD v4
20g.33443586A>TCA408634768SNTA1c.35T>A (p.Leu12Gln)
n.268T>A
20g.33443587G>ACA510470725SNTA1c.34C>T (p.Leu12=)
n.267C>T
ClinVar dbSNP gnomAD v4
20g.33443587G>CCA408634769SNTA1c.34C>G (p.Leu12Val)
n.267C>G
gnomAD v4
20g.33443587G>TCA408634771SNTA1c.34C>A (p.Leu12Met)
n.267C>A
gnomAD v4
20g.33443588C>ACA510470729SNTA1c.33G>T (p.Gly11=)
n.266G>T
gnomAD v4
20g.33443588C=CA2360755019SNTA1c.33G= (p.Gly11=)
n.266G=
20g.33443588C>GCA510470726SNTA1c.33G>C (p.Gly11=)
n.266G>C
dbSNP gnomAD v2 gnomAD v4
20g.33443588C>TCA510470728SNTA1c.33G>A (p.Gly11=)
n.266G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
20g.33443590delCA2652478419SNTA1c.33del (p.Leu12CysfsTer22)
n.266del
gnomAD v4
20g.33443589C>ACA408634776SNTA1c.32G>T (p.Gly11Val)
n.265G>T
ClinVar gnomAD v4
20g.33443589C>GCA408634775SNTA1c.32G>C (p.Gly11Ala)
n.265G>C
ClinVar dbSNP
20g.33443589C>TCA408634774SNTA1c.32G>A (p.Gly11Glu)
n.265G>A
gnomAD v4
20g.33443590C>ACA408634779SNTA1c.31G>T (p.Gly11Trp)
n.264G>T
dbSNP gnomAD v4
20g.33443590C=CA2360755020SNTA1c.31G= (p.Gly11=)
n.264G=
20g.33443590C>GCA408634780SNTA1c.31G>C (p.Gly11Arg)
n.264G>C
gnomAD v4
20g.33443590C>TCA408634782SNTA1c.31G>A (p.Gly11Arg)
n.264G>A
gnomAD v4
20g.33443591G>ACA510470731SNTA1c.30C>T (p.Thr10=)
n.263C>T
dbSNP gnomAD v3 gnomAD v4
20g.33443591G>CCA510470732SNTA1c.30C>G (p.Thr10=)
n.263C>G
ClinVar gnomAD v4
20g.33443591G=CA2360755021SNTA1c.30C= (p.Thr10=)
n.263C=
20g.33443591G>TCA510470733SNTA1c.30C>A (p.Thr10=)
n.263C>A
gnomAD v4
20g.33443592G>ACA408634785SNTA1c.29C>T (p.Thr10Ile)
n.262C>T
gnomAD v4
20g.33443592G>CCA408634786SNTA1c.29C>G (p.Thr10Ser)
n.262C>G
20g.33443592G>TCA408634787SNTA1c.29C>A (p.Thr10Asn)
n.262C>A
gnomAD v4
20g.33443593_33443594delCA2652478420SNTA1c.28_29del (p.Thr10ArgfsTer?)
n.261_262del
gnomAD v4
20g.33443593T>ACA408634789SNTA1c.28A>T (p.Thr10Ser)
n.261A>T
20g.33443593T>CCA408634791SNTA1c.28A>G (p.Thr10Ala)
n.261A>G
gnomAD v4
20g.33443593T>GCA408634792SNTA1c.28A>C (p.Thr10Pro)
n.261A>C
dbSNP
20g.33443593T=CA2360755022SNTA1c.28A= (p.Thr10=)
n.261A=
20g.33443594G>ACA510470737SNTA1c.27C>T (p.Arg9=)
n.260C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.33443594G>CCA510470738SNTA1c.27C>G (p.Arg9=)
n.260C>G
20g.33443594G=CA2360755023SNTA1c.27C= (p.Arg9=)
n.260C=
20g.33443594G>TCA510470739SNTA1c.27C>A (p.Arg9=)
n.260C>A
dbSNP gnomAD v3 gnomAD v4
20g.33443597_33443598delCA2652478421SNTA1c.26_27del (p.Arg9HisfsTer?)
n.259_260del
gnomAD v4
20g.33443595C>ACA408634795SNTA1c.26G>T (p.Arg9Leu)
n.259G>T
gnomAD v4
20g.33443595C=CA2360755024SNTA1c.26G= (p.Arg9=)
n.259G=
20g.33443595C>GCA408634796SNTA1c.26G>C (p.Arg9Pro)
n.259G>C
dbSNP
20g.33443595C>TCA408634798SNTA1c.26G>A (p.Arg9His)
n.259G>A
gnomAD v4
20g.33443596G>ACA10587924SNTA1c.25C>T (p.Arg9Cys)
n.258C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443596G>CCA408634802SNTA1c.25C>G (p.Arg9Gly)
n.258C>G
gnomAD v4
20g.33443596G=CA2360755025SNTA1c.25C= (p.Arg9=)
n.258C=
20g.33443596G>TCA408634799SNTA1c.25C>A (p.Arg9Ser)
n.258C>A
gnomAD v4
20g.33443597_33443599delCA2652478422SNTA1c.23_25del (p.Pro8del)
n.256_258del
gnomAD v4
20g.33443597C>ACA510470741SNTA1c.24G>T (p.Pro8=)
n.257G>T
gnomAD v4
20g.33443597C>GCA510470742SNTA1c.24G>C (p.Pro8=)
n.257G>C
gnomAD v4
20g.33443597C>TCA510470744SNTA1c.24G>A (p.Pro8=)
n.257G>A
gnomAD v4
20g.33443597_33443598delinsCGCA2360755026SNTA1c.23_24delinsCG (p.Pro8=)
n.256_257delinsCG
20g.33443601_33443641delCA2816180533SNTA1c.-17_24del
n.217_257del
20g.33443598G>ACA408634808SNTA1c.23C>T (p.Pro8Leu)
n.256C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.33443598G>CCA408634804SNTA1c.23C>G (p.Pro8Arg)
n.256C>G
20g.33443598G=CA2360755027SNTA1c.23C= (p.Pro8=)
n.256C=
20g.33443598G>TCA408634806SNTA1c.23C>A (p.Pro8Gln)
n.256C>A
dbSNP gnomAD v4
20g.33443601dupCA2652478423SNTA1c.23dup (p.Arg9AlafsTer?)
n.256dup
gnomAD v4
20g.33443601delCA920203189SNTA1c.23del (p.Pro8ArgfsTer26)
n.256del
dbSNP gnomAD v4
20g.33443600_33443601delCA2816180534SNTA1c.22_23del (p.Pro8AlafsTer?)
n.255_256del
20g.33443599G>ACA408634810SNTA1c.22C>T (p.Pro8Ser)
n.255C>T
gnomAD v4
20g.33443599G>CCA302237SNTA1c.22C>G (p.Pro8Ala)
n.255C>G
ClinVar dbSNP gnomAD v4
20g.33443599G=CA2360755028SNTA1c.22C= (p.Pro8=)
n.255C=
20g.33443599G>TCA408634812SNTA1c.22C>A (p.Pro8Thr)
n.255C>A
gnomAD v4
20g.33443600G>ACA510470746SNTA1c.21C>T (p.Ala7=)
n.254C>T
gnomAD v4
20g.33443600G>CCA510470748SNTA1c.21C>G (p.Ala7=)
n.254C>G
20g.33443600G>TCA510470749SNTA1c.21C>A (p.Ala7=)
n.254C>A
gnomAD v4
20g.33443601G>ACA408634818SNTA1c.20C>T (p.Ala7Val)
n.253C>T
ClinVar dbSNP gnomAD v4
20g.33443601G>CCA408634816SNTA1c.20C>G (p.Ala7Gly)
n.253C>G
gnomAD v4
20g.33443601G=CA2360755029SNTA1c.20C= (p.Ala7=)
n.253C=
20g.33443601G>TCA408634815SNTA1c.20C>A (p.Ala7Asp)
n.253C>A
gnomAD v4
20g.33443602C>ACA408634820SNTA1c.19G>T (p.Ala7Ser)
n.252G>T
gnomAD v4
20g.33443602C=CA2360755030SNTA1c.19G= (p.Ala7=)
n.252G=
20g.33443602C>GCA408634822SNTA1c.19G>C (p.Ala7Pro)
n.252G>C
gnomAD v4
20g.33443602C>TCA408634824SNTA1c.19G>A (p.Ala7Thr)
n.252G>A
dbSNP gnomAD v3 gnomAD v4
20g.33443603G>ACA510470751SNTA1c.18C>T (p.Arg6=)
n.251C>T
gnomAD v4
20g.33443603G>CCA510470752SNTA1c.18C>G (p.Arg6=)
n.251C>G
20g.33443603G>TCA510470753SNTA1c.18C>A (p.Arg6=)
n.251C>A
gnomAD v4
20g.33443604C>ACA408634826SNTA1c.17G>T (p.Arg6Leu)
n.250G>T
gnomAD v4
20g.33443604C>GCA408634828SNTA1c.17G>C (p.Arg6Pro)
n.250G>C
20g.33443604C>TCA408634830SNTA1c.17G>A (p.Arg6His)
n.250G>A
gnomAD v4
20g.33443605G>ACA302318SNTA1c.16C>T (p.Arg6Cys)
n.249C>T
ClinVar dbSNP gnomAD v4
20g.33443605G>CCA408634835SNTA1c.16C>G (p.Arg6Gly)
n.249C>G
20g.33443605G=CA2360755031SNTA1c.16C= (p.Arg6=)
n.249C=
20g.33443605G>TCA408634833SNTA1c.16C>A (p.Arg6Ser)
n.249C>A
gnomAD v4
20g.33443606C>ACA408634837SNTA1c.15G>T (p.Arg5Ser)
n.248G>T
gnomAD v4
20g.33443606C=CA2360755032SNTA1c.15G= (p.Arg5=)
n.248G=
20g.33443606C>GCA408634839SNTA1c.15G>C (p.Arg5Ser)
n.248G>C
20g.33443606C>TCA510470755SNTA1c.15G>A (p.Arg5=)
n.248G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443607C>ACA408634841SNTA1c.14G>T (p.Arg5Met)
n.247G>T
gnomAD v4
20g.33443607C>GCA408634843SNTA1c.14G>C (p.Arg5Thr)
n.247G>C
gnomAD v4
20g.33443607C>TCA408634845SNTA1c.14G>A (p.Arg5Lys)
n.247G>A
dbSNP gnomAD v3 gnomAD v4
20g.33443608T>ACA408634847SNTA1c.13A>T (p.Arg5Trp)
n.246A>T
gnomAD v4
20g.33443608T>CCA408634849SNTA1c.13A>G (p.Arg5Gly)
n.246A>G
dbSNP gnomAD v2 gnomAD v4
20g.33443608T>GCA313279168SNTA1c.13A>C (p.Arg5=)
n.246A>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33443608T=CA2360755033SNTA1c.13A= (p.Arg5=)
n.246A=
20g.33443609delCA2652478424SNTA1c.12del (p.Arg5GlyfsTer29)
n.245del
gnomAD v4
20g.33443609G>ACA510470761SNTA1c.12C>T (p.Gly4=)
n.245C>T
gnomAD v4
20g.33443609G>CCA510470760SNTA1c.12C>G (p.Gly4=)
n.245C>G
gnomAD v4
20g.33443609G>TCA510470759SNTA1c.12C>A (p.Gly4=)
n.245C>A
gnomAD v4
20g.33443610C>ACA408634851SNTA1c.11G>T (p.Gly4Val)
n.244G>T
gnomAD v4
20g.33443610C>GCA408634853SNTA1c.11G>C (p.Gly4Ala)
n.244G>C
gnomAD v4
20g.33443610C>TCA408634855SNTA1c.11G>A (p.Gly4Asp)
n.244G>A
gnomAD v4
20g.33443611delCA2652478425SNTA1c.11del (p.Gly4AlafsTer30)
n.244del
gnomAD v4
20g.33443611C>ACA408634861SNTA1c.10G>T (p.Gly4Cys)
n.243G>T
ClinVar dbSNP gnomAD v4
20g.33443611C=CA2360755034SNTA1c.10G= (p.Gly4=)
n.243G=
20g.33443611C>GCA408634859SNTA1c.10G>C (p.Gly4Arg)
n.243G>C
dbSNP gnomAD v2 gnomAD v4
20g.33443611C>TCA408634857SNTA1c.10G>A (p.Gly4Ser)
n.243G>A
gnomAD v4
20g.33443612G>ACA510470762SNTA1c.9C>T (p.Ser3=)
n.242C>T
gnomAD v4
20g.33443612G>CCA510470764SNTA1c.9C>G (p.Ser3=)
n.242C>G
20g.33443612G>TCA510470765SNTA1c.9C>A (p.Ser3=)
n.242C>A
gnomAD v4
20g.33443613delCA2652478426SNTA1c.9del (p.Gly4AlafsTer?)
n.242del
gnomAD v4
20g.33443613G>ACA408634862SNTA1c.8C>T (p.Ser3Phe)
n.241C>T
gnomAD v4
20g.33443613G>CCA408634864SNTA1c.8C>G (p.Ser3Cys)
n.241C>G
gnomAD v4
20g.33443613G>TCA408634866SNTA1c.8C>A (p.Ser3Tyr)
n.241C>A
gnomAD v4
20g.33443614A>CCA408634868SNTA1c.7T>G (p.Ser3Ala)
n.240T>G
20g.33443614A>GCA408634870SNTA1c.7T>C (p.Ser3Pro)
n.240T>C
gnomAD v4
20g.33443614A>TCA408634872SNTA1c.7T>A (p.Ser3Thr)
n.240T>A
gnomAD v4
20g.33443614_33443623delinsACGCCATCTTCA2360755035SNTA1c.-3_7delinsAAGATGGCGT
n.231_240delinsAAGATGGCGT
20g.33443615C>ACA510470766SNTA1c.6G>T (p.Ala2=)
n.239G>T
dbSNP gnomAD v2 gnomAD v4
20g.33443615C=CA2360755036SNTA1c.6G= (p.Ala2=)
n.239G=
20g.33443615C>GCA510470769SNTA1c.6G>C (p.Ala2=)
n.239G>C
gnomAD v4
20g.33443615C>TCA510470768SNTA1c.6G>A (p.Ala2=)
n.239G>A
gnomAD v4
20g.33443619_33443627delCA658799353SNTA1c.-3_6del
n.231_239del
ClinVar dbSNP

Number of alleles fetched