Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50627247_50627257delCA2657593856ARSAc.374_384del (p.Lys125ArgfsTer5)
c.116_126del (p.Lys39ArgfsTer5)
n.765_775del
 gnomAD v4
22g.50627256_50627262delinsCTTGCCGCA2410959512ARSAc.369_375delinsCGGCAAG (p.Ala123=)
c.111_117delinsCGGCAAG (p.Ala37=)
n.760_766delinsCGGCAAG
22g.50627257T>ACA412180753ARSAc.374A>T (p.Lys125Met)
c.116A>T (p.Lys39Met)
n.765A>T
22g.50627257T>CCA412180756ARSAc.374A>G (p.Lys125Arg)
c.116A>G (p.Lys39Arg)
n.765A>G
22g.50627257T>GCA412180758ARSAc.374A>C (p.Lys125Thr)
c.116A>C (p.Lys39Thr)
n.765A>C
 ClinVar
22g.50627257_50627262delinsCCCAAGGTTCA233479ARSAc.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly)
c.111_116delinsAACCTTGGG (p.Gly38_Lys39delinsThrLeuGly)
n.760_765delinsAACCTTGGG
 ClinVar dbSNP
22g.50627258T>ACA412180763ARSAc.373A>T (p.Lys125Ter)
c.115A>T (p.Lys39Ter)
n.764A>T
22g.50627258T>CCA412180767ARSAc.373A>G (p.Lys125Glu)
c.115A>G (p.Lys39Glu)
n.764A>G
22g.50627258T>GCA412180770ARSAc.373A>C (p.Lys125Gln)
c.115A>C (p.Lys39Gln)
n.764A>C
22g.50627259G>ACA515391487ARSAc.372C>T (p.Gly124=)
c.114C>T (p.Gly38=)
n.763C>T
22g.50627259G>CCA515391488ARSAc.372C>G (p.Gly124=)
c.114C>G (p.Gly38=)
n.763C>G
22g.50627259G>TCA515391489ARSAc.372C>A (p.Gly124=)
c.114C>A (p.Gly38=)
n.763C>A
 gnomAD v4
22g.50627260C>ACA412180780ARSAc.371G>T (p.Gly124Val)
c.113G>T (p.Gly38Val)
n.762G>T
22g.50627260C=CA2410959514ARSAc.371G= (p.Gly124=)
c.113G= (p.Gly38=)
n.762G=
22g.50627260C>GCA412180775ARSAc.371G>C (p.Gly124Ala)
c.113G>C (p.Gly38Ala)
n.762G>C
22g.50627260C>TCA412180773ARSAc.371G>A (p.Gly124Asp)
c.113G>A (p.Gly38Asp)
n.762G>A
 ClinVar dbSNP gnomAD v4
22g.50627261C>ACA325531581ARSAc.370G>T (p.Gly124Cys)
c.112G>T (p.Gly38Cys)
n.761G>T
 ClinVar dbSNP gnomAD v4
22g.50627261C=CA2410959515ARSAc.370G= (p.Gly124=)
c.112G= (p.Gly38=)
n.761G=
22g.50627261C>GCA412180784ARSAc.370G>C (p.Gly124Arg)
c.112G>C (p.Gly38Arg)
n.761G>C
 dbSNP gnomAD v4
22g.50627261C>TCA220987ARSAc.370G>A (p.Gly124Ser)
c.112G>A (p.Gly38Ser)
n.761G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627261_50627262delinsCGCA2410959516ARSAc.369_370delinsCG (p.Ala123=)
c.111_112delinsCG (p.Ala37=)
n.760_761delinsCG
22g.50627262G>ACA10653701ARSAc.369C>T (p.Ala123=)
c.111C>T (p.Ala37=)
n.760C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627262G>CCA515391492ARSAc.369C>G (p.Ala123=)
c.111C>G (p.Ala37=)
n.760C>G
22g.50627262G=CA2410959517ARSAc.369C= (p.Ala123=)
c.111C= (p.Ala37=)
n.760C=
22g.50627262G>TCA515391494ARSAc.369C>A (p.Ala123=)
c.111C>A (p.Ala37=)
n.760C>A
22g.50627263delCA1026681316ARSAc.369del (p.Gly124AlafsTer24)
c.111del (p.Gly38AlafsTer24)
n.760del
 dbSNP gnomAD v3 gnomAD v4
22g.50627263G>ACA412180790ARSAc.368C>T (p.Ala123Val)
c.110C>T (p.Ala37Val)
n.759C>T
 gnomAD v4
22g.50627263G>CCA412180800ARSAc.368C>G (p.Ala123Gly)
c.110C>G (p.Ala37Gly)
n.759C>G
22g.50627263G>TCA412180802ARSAc.368C>A (p.Ala123Asp)
c.110C>A (p.Ala37Asp)
n.759C>A
22g.50627264C>ACA412180805ARSAc.367G>T (p.Ala123Ser)
c.109G>T (p.Ala37Ser)
n.758G>T
 gnomAD v4
22g.50627264C=CA2410959518ARSAc.367G= (p.Ala123=)
c.109G= (p.Ala37=)
n.758G=
22g.50627264C>GCA412180806ARSAc.367G>C (p.Ala123Pro)
c.109G>C (p.Ala37Pro)
n.758G>C
 gnomAD v4
22g.50627264C>TCA412180809ARSAc.367G>A (p.Ala123Thr)
c.109G>A (p.Ala37Thr)
n.758G>A
 dbSNP
22g.50627265C>ACA412180810ARSAc.366G>T (p.Met122Ile)
c.108G>T (p.Met36Ile)
n.757G>T
22g.50627265C>GCA412180811ARSAc.366G>C (p.Met122Ile)
c.108G>C (p.Met36Ile)
n.757G>C
22g.50627265C>TCA412180812ARSAc.366G>A (p.Met122Ile)
c.108G>A (p.Met36Ile)
n.757G>A
22g.50627266A>CCA412180816ARSAc.365T>G (p.Met122Arg)
c.107T>G (p.Met36Arg)
n.756T>G
22g.50627266A>GCA412180819ARSAc.365T>C (p.Met122Thr)
c.107T>C (p.Met36Thr)
n.756T>C
 ClinVar dbSNP
22g.50627266A>TCA412180815ARSAc.365T>A (p.Met122Lys)
c.107T>A (p.Met36Lys)
n.756T>A
22g.50627267T>ACA412180821ARSAc.364A>T (p.Met122Leu)
c.106A>T (p.Met36Leu)
n.755A>T
22g.50627267T>CCA412180824ARSAc.364A>G (p.Met122Val)
c.106A>G (p.Met36Val)
n.755A>G
22g.50627267T>GCA412180833ARSAc.364A>C (p.Met122Leu)
c.106A>C (p.Met36Leu)
n.755A>C
22g.50627268T>ACA515391499ARSAc.363A>T (p.Gly121=)
c.105A>T (p.Gly35=)
n.754A>T
 dbSNP gnomAD v2 gnomAD v4
22g.50627268T>CCA10325044ARSAc.363A>G (p.Gly121=)
c.105A>G (p.Gly35=)
n.754A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627268T>GCA515391500ARSAc.363A>C (p.Gly121=)
c.105A>C (p.Gly35=)
n.754A>C
 dbSNP
22g.50627268T=CA2410959519ARSAc.363A= (p.Gly121=)
c.105A= (p.Gly35=)
n.754A=
22g.50627269C>ACA412180843ARSAc.362G>T (p.Gly121Val)
c.104G>T (p.Gly35Val)
n.753G>T
 gnomAD v4
22g.50627269C>GCA412180848ARSAc.362G>C (p.Gly121Ala)
c.104G>C (p.Gly35Ala)
n.753G>C
22g.50627269C>TCA412180850ARSAc.362G>A (p.Gly121Glu)
c.104G>A (p.Gly35Glu)
n.753G>A
 ClinVar
22g.50627270C>ACA412180855ARSAc.361G>T (p.Gly121Ter)
c.103G>T (p.Gly35Ter)
n.752G>T
22g.50627270C=CA2410959520ARSAc.361G= (p.Gly121=)
c.103G= (p.Gly35=)
n.752G=
22g.50627270C>GCA412180857ARSAc.361G>C (p.Gly121Arg)
c.103G>C (p.Gly35Arg)
n.752G>C
 gnomAD v4
22g.50627270C>TCA219016ARSAc.361G>A (p.Gly121Arg)
c.103G>A (p.Gly35Arg)
n.752G>A
 ClinVar dbSNP
22g.50627271T>ACA515391503ARSAc.360A>T (p.Thr120=)
c.102A>T (p.Thr34=)
n.751A>T
22g.50627271T>CCA515391504ARSAc.360A>G (p.Thr120=)
c.102A>G (p.Thr34=)
n.751A>G
 gnomAD v4
22g.50627271T>GCA515391505ARSAc.360A>C (p.Thr120=)
c.102A>C (p.Thr34=)
n.751A>C
22g.50627272G>ACA412180860ARSAc.359C>T (p.Thr120Ile)
c.101C>T (p.Thr34Ile)
n.750C>T
 gnomAD v4
22g.50627272G>CCA412180868ARSAc.359C>G (p.Thr120Arg)
c.101C>G (p.Thr34Arg)
n.750C>G
22g.50627272G>TCA412180870ARSAc.359C>A (p.Thr120Lys)
c.101C>A (p.Thr34Lys)
n.750C>A
22g.50627273T>ACA412180878ARSAc.358A>T (p.Thr120Ser)
c.100A>T (p.Thr34Ser)
n.749A>T
22g.50627273T>CCA412180880ARSAc.358A>G (p.Thr120Ala)
c.100A>G (p.Thr34Ala)
n.749A>G
22g.50627273T>GCA412180875ARSAc.358A>C (p.Thr120Pro)
c.100A>C (p.Thr34Pro)
n.749A>C
 gnomAD v4
22g.50627274G>ACA515391507ARSAc.357C>T (p.Leu119=)
c.99C>T (p.Leu33=)
n.748C>T
22g.50627274G>CCA10325045ARSAc.357C>G (p.Leu119=)
c.99C>G (p.Leu33=)
n.748C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627274G=CA2410959521ARSAc.357C= (p.Leu119=)
c.99C= (p.Leu33=)
n.748C=
22g.50627274G>TCA515391508ARSAc.357C>A (p.Leu119=)
c.99C>A (p.Leu33=)
n.748C>A
22g.50627275A>CCA412180889ARSAc.356T>G (p.Leu119Arg)
c.98T>G (p.Leu33Arg)
n.747T>G
22g.50627275A>GCA412180893ARSAc.356T>C (p.Leu119Pro)
c.98T>C (p.Leu33Pro)
n.747T>C
22g.50627275A>TCA412180896ARSAc.356T>A (p.Leu119His)
c.98T>A (p.Leu33His)
n.747T>A
22g.50627275_50627284delinsAGGTAGCCTCCA2410959522ARSAc.347_356delinsGAGGCTACCT (p.Arg116=)
c.89_98delinsGAGGCTACCT (p.Arg30=)
n.738_747delinsGAGGCTACCT
22g.50627276G>ACA412180900ARSAc.355C>T (p.Leu119Phe)
c.97C>T (p.Leu33Phe)
n.746C>T
22g.50627276G>CCA412180909ARSAc.355C>G (p.Leu119Val)
c.97C>G (p.Leu33Val)
n.746C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50627276G=CA2410959523ARSAc.355C= (p.Leu119=)
c.97C= (p.Leu33=)
n.746C=
22g.50627276G>TCA412180911ARSAc.355C>A (p.Leu119Ile)
c.97C>A (p.Leu33Ile)
n.746C>A
22g.50627277delCA2657593857ARSAc.355del (p.Leu119SerfsTer29)
c.97del (p.Leu33SerfsTer29)
n.746del
 gnomAD v4
22g.50627278_50627286delCA754070388ARSAc.347_355del (p.Arg116_Tyr118del)
c.89_97del (p.Arg30_Tyr32del)
n.738_746del
 dbSNP gnomAD v3 gnomAD v4
22g.50627277G>ACA515391510ARSAc.354C>T (p.Tyr118=)
c.96C>T (p.Tyr32=)
n.745C>T
 gnomAD v4
22g.50627277G>CCA412180913ARSAc.354C>G (p.Tyr118Ter)
c.96C>G (p.Tyr32Ter)
n.745C>G
22g.50627277G>TCA412180914ARSAc.354C>A (p.Tyr118Ter)
c.96C>A (p.Tyr32Ter)
n.745C>A
22g.50627278T>ACA412180916ARSAc.353A>T (p.Tyr118Phe)
c.95A>T (p.Tyr32Phe)
n.744A>T
22g.50627278T>CCA412180922ARSAc.353A>G (p.Tyr118Cys)
c.95A>G (p.Tyr32Cys)
n.744A>G
22g.50627278T>GCA412180926ARSAc.353A>C (p.Tyr118Ser)
c.95A>C (p.Tyr32Ser)
n.744A>C
22g.50627279A=CA2410959524ARSAc.352T= (p.Tyr118=)
c.94T= (p.Tyr32=)
n.743T=
22g.50627279A>CCA412180930ARSAc.352T>G (p.Tyr118Asp)
c.94T>G (p.Tyr32Asp)
n.743T>G
22g.50627279A>GCA412180933ARSAc.352T>C (p.Tyr118His)
c.94T>C (p.Tyr32His)
n.743T>C
 dbSNP
22g.50627279A>TCA412180938ARSAc.352T>A (p.Tyr118Asn)
c.94T>A (p.Tyr32Asn)
n.743T>A
22g.50627280G>ACA515391512ARSAc.351C>T (p.Gly117=)
c.93C>T (p.Gly31=)
n.742C>T
22g.50627280G>CCA515391513ARSAc.351C>G (p.Gly117=)
c.93C>G (p.Gly31=)
n.742C>G
22g.50627280G>TCA515391514ARSAc.351C>A (p.Gly117=)
c.93C>A (p.Gly31=)
n.742C>A
 gnomAD v4
22g.50627281C>ACA412180944ARSAc.350G>T (p.Gly117Val)
c.92G>T (p.Gly31Val)
n.741G>T
 gnomAD v4
22g.50627281C=CA2410959525ARSAc.350G= (p.Gly117=)
c.92G= (p.Gly31=)
n.741G=
22g.50627281C>GCA412180945ARSAc.350G>C (p.Gly117Ala)
c.92G>C (p.Gly31Ala)
n.741G>C
22g.50627281C>TCA412180941ARSAc.350G>A (p.Gly117Asp)
c.92G>A (p.Gly31Asp)
n.741G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50627281_50627282dupCA2739268050ARSAc.349_350dup (p.Tyr118AlafsTer?)
c.91_92dup (p.Tyr32AlafsTer?)
n.740_741dup
 ClinVar
22g.50627282C>ACA412180946ARSAc.349G>T (p.Gly117Cys)
c.91G>T (p.Gly31Cys)
n.740G>T
22g.50627282C>GCA412180947ARSAc.349G>C (p.Gly117Arg)
c.91G>C (p.Gly31Arg)
n.740G>C
 ClinVar gnomAD v4
22g.50627282C>TCA412180950ARSAc.349G>A (p.Gly117Ser)
c.91G>A (p.Gly31Ser)
n.740G>A
 ClinVar dbSNP
22g.50627283T>ACA515391517ARSAc.348A>T (p.Arg116=)
c.90A>T (p.Arg30=)
n.739A>T
22g.50627283T>CCA515391515ARSAc.348A>G (p.Arg116=)
c.90A>G (p.Arg30=)
n.739A>G
22g.50627283T>GCA515391516ARSAc.348A>C (p.Arg116=)
c.90A>C (p.Arg30=)
n.739A>C
22g.50627284C>ACA412180953ARSAc.347G>T (p.Arg116Leu)
c.89G>T (p.Arg30Leu)
n.738G>T
22g.50627284C=CA2410959526ARSAc.347G= (p.Arg116=)
c.89G= (p.Arg30=)
n.738G=
22g.50627284C>GCA412180958ARSAc.347G>C (p.Arg116Pro)
c.89G>C (p.Arg30Pro)
n.738G>C
 gnomAD v4
22g.50627284C>TCA10325046ARSAc.347G>A (p.Arg116Gln)
c.89G>A (p.Arg30Gln)
n.738G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627285G>ACA10603751ARSAc.346C>T (p.Arg116Ter)
c.88C>T (p.Arg30Ter)
n.737C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627285G>CCA10325047ARSAc.346C>G (p.Arg116Gly)
c.88C>G (p.Arg30Gly)
n.737C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627285G=CA2410959527ARSAc.346C= (p.Arg116=)
c.88C= (p.Arg30=)
n.737C=
22g.50627285G>TCA515391521ARSAc.346C>A (p.Arg116=)
c.88C>A (p.Arg30=)
n.737C>A
 gnomAD v4
22g.50627286G>ACA515391522ARSAc.345C>T (p.Ala115=)
c.87C>T (p.Ala29=)
n.736C>T
22g.50627286G>CCA325531584ARSAc.345C>G (p.Ala115=)
c.87C>G (p.Ala29=)
n.736C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627286G=CA2410959528ARSAc.345C= (p.Ala115=)
c.87C= (p.Ala29=)
n.736C=
22g.50627286G>TCA515391523ARSAc.345C>A (p.Ala115=)
c.87C>A (p.Ala29=)
n.736C>A
 gnomAD v4
22g.50627287G>ACA412180975ARSAc.344C>T (p.Ala115Val)
c.86C>T (p.Ala29Val)
n.735C>T
 gnomAD v4
22g.50627287G>CCA412180979ARSAc.344C>G (p.Ala115Gly)
c.86C>G (p.Ala29Gly)
n.735C>G
 dbSNP
22g.50627287G=CA2410959529ARSAc.344C= (p.Ala115=)
c.86C= (p.Ala29=)
n.735C=
22g.50627287G>TCA412180997ARSAc.344C>A (p.Ala115Asp)
c.86C>A (p.Ala29Asp)
n.735C>A
22g.50627288C>ACA412181006ARSAc.343G>T (p.Ala115Ser)
c.85G>T (p.Ala29Ser)
n.734G>T
22g.50627288C=CA2410959530ARSAc.343G= (p.Ala115=)
c.85G= (p.Ala29=)
n.734G=
22g.50627288C>GCA412181009ARSAc.343G>C (p.Ala115Pro)
c.85G>C (p.Ala29Pro)
n.734G>C
 gnomAD v4
22g.50627288C>TCA412181012ARSAc.343G>A (p.Ala115Thr)
c.85G>A (p.Ala29Thr)
n.734G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50627289A=CA2410959531ARSAc.342T= (p.Ala114=)
c.84T= (p.Ala28=)
n.733T=
22g.50627289A>CCA515391527ARSAc.342T>G (p.Ala114=)
c.84T>G (p.Ala28=)
n.733T>G
22g.50627289A>GCA10325048ARSAc.342T>C (p.Ala114=)
c.84T>C (p.Ala28=)
n.733T>C
 dbSNP ExAC gnomAD v2
22g.50627289A>TCA515391529ARSAc.342T>A (p.Ala114=)
c.84T>A (p.Ala28=)
n.733T>A
22g.50627290G>ACA412181018ARSAc.341C>T (p.Ala114Val)
c.83C>T (p.Ala28Val)
n.732C>T
 gnomAD v4
22g.50627290G>CCA412181020ARSAc.341C>G (p.Ala114Gly)
c.83C>G (p.Ala28Gly)
n.732C>G
22g.50627290G>TCA412181019ARSAc.341C>A (p.Ala114Asp)
c.83C>A (p.Ala28Asp)
n.732C>A
 gnomAD v4
22g.50627291C>ACA412181023ARSAc.340G>T (p.Ala114Ser)
c.82G>T (p.Ala28Ser)
n.731G>T
22g.50627291C>GCA412181027ARSAc.340G>C (p.Ala114Pro)
c.82G>C (p.Ala28Pro)
n.731G>C
22g.50627291C>TCA412181037ARSAc.340G>A (p.Ala114Thr)
c.82G>A (p.Ala28Thr)
n.731G>A
22g.50627292C>ACA10325049ARSAc.339G>T (p.Leu113=)
c.81G>T (p.Leu27=)
n.730G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627292C=CA2410959532ARSAc.339G= (p.Leu113=)
c.81G= (p.Leu27=)
n.730G=
22g.50627292C>GCA515391531ARSAc.339G>C (p.Leu113=)
c.81G>C (p.Leu27=)
n.730G>C
22g.50627292C>TCA515391532ARSAc.339G>A (p.Leu113=)
c.81G>A (p.Leu27=)
n.730G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627293A=CA2410959533ARSAc.338T= (p.Leu113=)
c.80T= (p.Leu27=)
n.729T=
22g.50627293A>CCA412181043ARSAc.338T>G (p.Leu113Arg)
c.80T>G (p.Leu27Arg)
n.729T>G
22g.50627293A>GCA10325050ARSAc.338T>C (p.Leu113Pro)
c.80T>C (p.Leu27Pro)
n.729T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627293A>TCA412181049ARSAc.338T>A (p.Leu113Gln)
c.80T>A (p.Leu27Gln)
n.729T>A
22g.50627294G>ACA515391534ARSAc.337C>T (p.Leu113=)
c.79C>T (p.Leu27=)
n.728C>T
 ClinVar gnomAD v4 COSMIC
22g.50627294G>CCA412181074ARSAc.337C>G (p.Leu113Val)
c.79C>G (p.Leu27Val)
n.728C>G
22g.50627294G>TCA412181078ARSAc.337C>A (p.Leu113Met)
c.79C>A (p.Leu27Met)
n.728C>A
22g.50627295G>ACA515391535ARSAc.336C>T (p.Val112=)
c.78C>T (p.Val26=)
n.727C>T
 ClinVar dbSNP
22g.50627295G>CCA515391536ARSAc.336C>G (p.Val112=)
c.78C>G (p.Val26=)
n.727C>G
22g.50627295G>TCA515391537ARSAc.336C>A (p.Val112=)
c.78C>A (p.Val26=)
n.727C>A
22g.50627296A=CA2410959534ARSAc.335T= (p.Val112=)
c.77T= (p.Val26=)
n.726T=
22g.50627296A>CCA412181082ARSAc.335T>G (p.Val112Gly)
c.77T>G (p.Val26Gly)
n.726T>G
22g.50627296A>GCA412181085ARSAc.335T>C (p.Val112Ala)
c.77T>C (p.Val26Ala)
n.726T>C
22g.50627296A>TCA412181089ARSAc.335T>A (p.Val112Asp)
c.77T>A (p.Val26Asp)
n.726T>A
 ClinVar dbSNP
22g.50627298_50627364delCA2697552823ARSAc.269_335del (p.Tyr90SerfsTer?)
c.11_77del (p.Tyr4SerfsTer?)
n.660_726del
 ClinVar
22g.50627297C>ACA10325051ARSAc.334G>T (p.Val112Phe)
c.76G>T (p.Val26Phe)
n.725G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627297C=CA2410959535ARSAc.334G= (p.Val112=)
c.76G= (p.Val26=)
n.725G=
22g.50627297C>GCA412181101ARSAc.334G>C (p.Val112Leu)
c.76G>C (p.Val26Leu)
n.725G>C
22g.50627297C>TCA412181096ARSAc.334G>A (p.Val112Ile)
c.76G>A (p.Val26Ile)
n.725G>A
22g.50627298T>ACA412181104ARSAc.333A>T (p.Glu111Asp)
c.75A>T (p.Glu25Asp)
n.724A>T
22g.50627298T>CCA515391539ARSAc.333A>G (p.Glu111=)
c.75A>G (p.Glu25=)
n.724A>G
22g.50627298T>GCA412181108ARSAc.333A>C (p.Glu111Asp)
c.75A>C (p.Glu25Asp)
n.724A>C
 dbSNP gnomAD v3 gnomAD v4
22g.50627298T=CA2410959536ARSAc.333A= (p.Glu111=)
c.75A= (p.Glu25=)
n.724A=
22g.50627299T>ACA412181113ARSAc.332A>T (p.Glu111Val)
c.74A>T (p.Glu25Val)
n.723A>T
 gnomAD v4
22g.50627299T>CCA412181115ARSAc.332A>G (p.Glu111Gly)
c.74A>G (p.Glu25Gly)
n.723A>G
22g.50627299T>GCA412181120ARSAc.332A>C (p.Glu111Ala)
c.74A>C (p.Glu25Ala)
n.723A>C
22g.50627300C>ACA412181127ARSAc.331G>T (p.Glu111Ter)
c.73G>T (p.Glu25Ter)
n.722G>T
 gnomAD v4
22g.50627300C=CA2410959537ARSAc.331G= (p.Glu111=)
c.73G= (p.Glu25=)
n.722G=
22g.50627300C>GCA412181129ARSAc.331G>C (p.Glu111Gln)
c.73G>C (p.Glu25Gln)
n.722G>C
22g.50627300C>TCA10325052ARSAc.331G>A (p.Glu111Lys)
c.73G>A (p.Glu25Lys)
n.722G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627301G>ACA325531588ARSAc.330C>T (p.Ala110=)
c.72C>T (p.Ala24=)
n.721C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50627301G>CCA515391543ARSAc.330C>G (p.Ala110=)
c.72C>G (p.Ala24=)
n.721C>G
22g.50627301G=CA2410959538ARSAc.330C= (p.Ala110=)
c.72C= (p.Ala24=)
n.721C=
22g.50627301G>TCA515391544ARSAc.330C>A (p.Ala110=)
c.72C>A (p.Ala24=)
n.721C>A
22g.50627302G>ACA412181138ARSAc.329C>T (p.Ala110Val)
c.71C>T (p.Ala24Val)
n.720C>T
 ClinVar dbSNP gnomAD v4
22g.50627302G>CCA412181141ARSAc.329C>G (p.Ala110Gly)
c.71C>G (p.Ala24Gly)
n.720C>G
22g.50627302G=CA2410959539ARSAc.329C= (p.Ala110=)
c.71C= (p.Ala24=)
n.720C=
22g.50627302G>TCA412181147ARSAc.329C>A (p.Ala110Asp)
c.71C>A (p.Ala24Asp)
n.720C>A
 dbSNP
22g.50627303C>ACA412181156ARSAc.328G>T (p.Ala110Ser)
c.70G>T (p.Ala24Ser)
n.719G>T
 gnomAD v4
22g.50627303C=CA2410959540ARSAc.328G= (p.Ala110=)
c.70G= (p.Ala24=)
n.719G=
22g.50627303C>GCA412181161ARSAc.328G>C (p.Ala110Pro)
c.70G>C (p.Ala24Pro)
n.719G>C
22g.50627303C>TCA412181165ARSAc.328G>A (p.Ala110Thr)
c.70G>A (p.Ala24Thr)
n.719G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627304C>ACA515391548ARSAc.327G>T (p.Val109=)
c.69G>T (p.Val23=)
n.718G>T
 gnomAD v4
22g.50627304C=CA2410959541ARSAc.327G= (p.Val109=)
c.69G= (p.Val23=)
n.718G=
22g.50627304C>GCA10325053ARSAc.327G>C (p.Val109=)
c.69G>C (p.Val23=)
n.718G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627304C>TCA325531589ARSAc.327G>A (p.Val109=)
c.69G>A (p.Val23=)
n.718G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50627305A>CCA412181176ARSAc.326T>G (p.Val109Gly)
c.68T>G (p.Val23Gly)
n.717T>G
22g.50627305A>GCA412181180ARSAc.326T>C (p.Val109Ala)
c.68T>C (p.Val23Ala)
n.717T>C
 ClinVar
22g.50627305A>TCA412181185ARSAc.326T>A (p.Val109Glu)
c.68T>A (p.Val23Glu)
n.717T>A
22g.50627306C>ACA412181193ARSAc.325G>T (p.Val109Leu)
c.67G>T (p.Val23Leu)
n.716G>T
22g.50627306C=CA2410959542ARSAc.325G= (p.Val109=)
c.67G= (p.Val23=)
n.716G=
22g.50627306C>GCA412181194ARSAc.325G>C (p.Val109Leu)
c.67G>C (p.Val23Leu)
n.716G>C
22g.50627306C>TCA10325054ARSAc.325G>A (p.Val109Met)
c.67G>A (p.Val23Met)
n.716G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627307G>ACA10325055ARSAc.324C>T (p.Thr108=)
c.66C>T (p.Thr22=)
n.715C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627307G>CCA515391549ARSAc.324C>G (p.Thr108=)
c.66C>G (p.Thr22=)
n.715C>G
 gnomAD v4
22g.50627307G=CA2410959543ARSAc.324C= (p.Thr108=)
c.66C= (p.Thr22=)
n.715C=
22g.50627307G>TCA515391550ARSAc.324C>A (p.Thr108=)
c.66C>A (p.Thr22=)
n.715C>A
 gnomAD v4
22g.50627308G>ACA412181209ARSAc.323C>T (p.Thr108Ile)
c.65C>T (p.Thr22Ile)
n.714C>T
 ClinVar
22g.50627308G>CCA412181218ARSAc.323C>G (p.Thr108Ser)
c.65C>G (p.Thr22Ser)
n.714C>G
22g.50627308G>TCA412181222ARSAc.323C>A (p.Thr108Asn)
c.65C>A (p.Thr22Asn)
n.714C>A
22g.50627309T>ACA412181228ARSAc.322A>T (p.Thr108Ser)
c.64A>T (p.Thr22Ser)
n.713A>T
22g.50627309T>CCA412181231ARSAc.322A>G (p.Thr108Ala)
c.64A>G (p.Thr22Ala)
n.713A>G
22g.50627309T>GCA412181240ARSAc.322A>C (p.Thr108Pro)
c.64A>C (p.Thr22Pro)
n.713A>C
22g.50627310C>ACA515391551ARSAc.321G>T (p.Val107=)
c.63G>T (p.Val21=)
n.712G>T
 gnomAD v4
22g.50627310C>GCA515391553ARSAc.321G>C (p.Val107=)
c.63G>C (p.Val21=)
n.712G>C
22g.50627310C>TCA515391552ARSAc.321G>A (p.Val107=)
c.63G>A (p.Val21=)
n.712G>A
22g.50627311A>CCA412181244ARSAc.320T>G (p.Val107Gly)
c.62T>G (p.Val21Gly)
n.711T>G
22g.50627311A>GCA412181260ARSAc.320T>C (p.Val107Ala)
c.62T>C (p.Val21Ala)
n.711T>C
22g.50627311A>TCA412181249ARSAc.320T>A (p.Val107Glu)
c.62T>A (p.Val21Glu)
n.711T>A
22g.50627312C>ACA412181265ARSAc.319G>T (p.Val107Leu)
c.61G>T (p.Val21Leu)
n.710G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627312C=CA2410959544ARSAc.319G= (p.Val107=)
c.61G= (p.Val21=)
n.710G=
22g.50627312C>GCA412181267ARSAc.319G>C (p.Val107Leu)
c.61G>C (p.Val21Leu)
n.710G>C
22g.50627312C>TCA412181266ARSAc.319G>A (p.Val107Met)
c.61G>A (p.Val21Met)
n.710G>A
 gnomAD v4
22g.50627313C>ACA412181271ARSAc.318G>T (p.Glu106Asp)
c.60G>T (p.Glu20Asp)
n.709G>T
 gnomAD v4
22g.50627313C=CA2410959545ARSAc.318G= (p.Glu106=)
c.60G= (p.Glu20=)
n.709G=
22g.50627313C>GCA412181277ARSAc.318G>C (p.Glu106Asp)
c.60G>C (p.Glu20Asp)
n.709G>C
22g.50627313C>TCA10325056ARSAc.318G>A (p.Glu106=)
c.60G>A (p.Glu20=)
n.709G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627314T>ACA412181287ARSAc.317A>T (p.Glu106Val)
c.59A>T (p.Glu20Val)
n.708A>T
22g.50627314T>CCA412181289ARSAc.317A>G (p.Glu106Gly)
c.59A>G (p.Glu20Gly)
n.708A>G
 gnomAD v4
22g.50627314T>GCA412181291ARSAc.317A>C (p.Glu106Ala)
c.59A>C (p.Glu20Ala)
n.708A>C
22g.50627315C>ACA412181292ARSAc.316G>T (p.Glu106Ter)
c.58G>T (p.Glu20Ter)
n.707G>T
 gnomAD v4
22g.50627315C>GCA412181293ARSAc.316G>C (p.Glu106Gln)
c.58G>C (p.Glu20Gln)
n.707G>C
22g.50627315C>TCA412181297ARSAc.316G>A (p.Glu106Lys)
c.58G>A (p.Glu20Lys)
n.707G>A
 gnomAD v4
22g.50627316C>ACA412181301ARSAc.315G>T (p.Glu105Asp)
c.57G>T (p.Glu19Asp)
n.706G>T
22g.50627316C>GCA412181303ARSAc.315G>C (p.Glu105Asp)
c.57G>C (p.Glu19Asp)
n.706G>C
22g.50627316C>TCA515391554ARSAc.315G>A (p.Glu105=)
c.57G>A (p.Glu19=)
n.706G>A
22g.50627317T>ACA412181316ARSAc.314A>T (p.Glu105Val)
c.56A>T (p.Glu19Val)
n.705A>T
22g.50627317T>CCA412181315ARSAc.314A>G (p.Glu105Gly)
c.56A>G (p.Glu19Gly)
n.705A>G
 gnomAD v4
22g.50627317T>GCA412181311ARSAc.314A>C (p.Glu105Ala)
c.56A>C (p.Glu19Ala)
n.705A>C
22g.50627318C>ACA412181317ARSAc.313G>T (p.Glu105Ter)
c.55G>T (p.Glu19Ter)
n.704G>T
 gnomAD v4
22g.50627318C>GCA412181318ARSAc.313G>C (p.Glu105Gln)
c.55G>C (p.Glu19Gln)
n.704G>C
22g.50627318C>TCA412181320ARSAc.313G>A (p.Glu105Lys)
c.55G>A (p.Glu19Lys)
n.704G>A
22g.50627319C>ACA515391555ARSAc.312G>T (p.Leu104=)
c.54G>T (p.Leu18=)
n.703G>T
22g.50627319C>GCA515391556ARSAc.312G>C (p.Leu104=)
c.54G>C (p.Leu18=)
n.703G>C
22g.50627319C>TCA515391557ARSAc.312G>A (p.Leu104=)
c.54G>A (p.Leu18=)
n.703G>A
 ClinVar
22g.50627320delCA2580099998ARSAc.311del (p.Leu104ArgfsTer4)
c.53del (p.Leu18ArgfsTer4)
n.702del
 ClinVar
22g.50627320A=CA2410959546ARSAc.311T= (p.Leu104=)
c.53T= (p.Leu18=)
n.702T=
22g.50627320A>CCA412181321ARSAc.311T>G (p.Leu104Arg)
c.53T>G (p.Leu18Arg)
n.702T>G
 gnomAD v4
22g.50627320A>GCA325531593ARSAc.311T>C (p.Leu104Pro)
c.53T>C (p.Leu18Pro)
n.702T>C
 dbSNP gnomAD v4
22g.50627320A>TCA412181340ARSAc.311T>A (p.Leu104Gln)
c.53T>A (p.Leu18Gln)
n.702T>A
 gnomAD v4
22g.50627321G>ACA515391558ARSAc.310C>T (p.Leu104=)
c.52C>T (p.Leu18=)
n.701C>T
 ClinVar dbSNP gnomAD v4
22g.50627321G>CCA412181348ARSAc.310C>G (p.Leu104Val)
c.52C>G (p.Leu18Val)
n.701C>G
22g.50627321G>TCA412181351ARSAc.310C>A (p.Leu104Met)
c.52C>A (p.Leu18Met)
n.701C>A
 gnomAD v4
22g.50627324delCA2657593945ARSAc.310del (p.Leu104TrpfsTer4)
c.52del (p.Leu18TrpfsTer4)
n.701del
 gnomAD v4
22g.50627322G>ACA10325057ARSAc.309C>T (p.Pro103=)
c.51C>T (p.Pro17=)
n.700C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627322G>CCA515391559ARSAc.309C>G (p.Pro103=)
c.51C>G (p.Pro17=)
n.700C>G
22g.50627322G=CA2410959547ARSAc.309C= (p.Pro103=)
c.51C= (p.Pro17=)
n.700C=
22g.50627322G>TCA515391560ARSAc.309C>A (p.Pro103=)
c.51C>A (p.Pro17=)
n.700C>A
22g.50627323G>ACA412181367ARSAc.308C>T (p.Pro103Leu)
c.50C>T (p.Pro17Leu)
n.699C>T
 gnomAD v4
22g.50627323G>CCA412181375ARSAc.308C>G (p.Pro103Arg)
c.50C>G (p.Pro17Arg)
n.699C>G
 ClinVar
22g.50627323G>TCA412181378ARSAc.308C>A (p.Pro103His)
c.50C>A (p.Pro17His)
n.699C>A
 gnomAD v4
22g.50627324G>ACA412181390ARSAc.307C>T (p.Pro103Ser)
c.49C>T (p.Pro17Ser)
n.698C>T
 gnomAD v4
22g.50627324G>CCA412181386ARSAc.307C>G (p.Pro103Ala)
c.49C>G (p.Pro17Ala)
n.698C>G
22g.50627324G>TCA412181383ARSAc.307C>A (p.Pro103Thr)
c.49C>A (p.Pro17Thr)
n.698C>A
 gnomAD v4
22g.50627325C>ACA515391561ARSAc.306G>T (p.Leu102=)
c.48G>T (p.Leu16=)
n.697G>T
 ClinVar dbSNP gnomAD v4
22g.50627325C=CA2410959548ARSAc.306G= (p.Leu102=)
c.48G= (p.Leu16=)
n.697G=
22g.50627325C>GCA515391562ARSAc.306G>C (p.Leu102=)
c.48G>C (p.Leu16=)
n.697G>C
22g.50627325C>TCA10325058ARSAc.306G>A (p.Leu102=)
c.48G>A (p.Leu16=)
n.697G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627326A>CCA412181392ARSAc.305T>G (p.Leu102Arg)
c.47T>G (p.Leu16Arg)
n.696T>G
22g.50627326A>GCA412181395ARSAc.305T>C (p.Leu102Pro)
c.47T>C (p.Leu16Pro)
n.696T>C
 gnomAD v4
22g.50627326A>TCA412181396ARSAc.305T>A (p.Leu102Gln)
c.47T>A (p.Leu16Gln)
n.696T>A
22g.50627326_50627327delinsAGCA2410959549ARSAc.304_305delinsCT (p.Leu102=)
c.46_47delinsCT (p.Leu16=)
n.695_696delinsCT
22g.50627327G>ACA515391563ARSAc.304C>T (p.Leu102=)
c.46C>T (p.Leu16=)
n.695C>T
 gnomAD v4
22g.50627327G>CCA412181399ARSAc.304C>G (p.Leu102Val)
c.46C>G (p.Leu16Val)
n.695C>G
22g.50627327G>TCA412181401ARSAc.304C>A (p.Leu102Met)
c.46C>A (p.Leu16Met)
n.695C>A
 gnomAD v4
22g.50627328delCA278486ARSAc.304del (p.Leu102CysfsTer6)
c.46del (p.Leu16CysfsTer6)
n.695del
 ClinVar dbSNP gnomAD v4
22g.50627328G>ACA10325061ARSAc.303C>T (p.Gly101=)
c.45C>T (p.Gly15=)
n.694C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627328G>CCA515391565ARSAc.303C>G (p.Gly101=)
c.45C>G (p.Gly15=)
n.694C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
22g.50627328G=CA2410959551ARSAc.303C= (p.Gly101=)
c.45C= (p.Gly15=)
n.694C=
22g.50627328G>TCA515391564ARSAc.303C>A (p.Gly101=)
c.45C>A (p.Gly15=)
n.694C>A
 dbSNP gnomAD v4
22g.50627328_50627329delinsAACA2573158322ARSAc.302_303delinsTT (p.Gly101Val)
c.44_45delinsTT (p.Gly15Val)
n.693_694delinsTT
 ClinVar dbSNP
22g.50627328_50627329delinsGCCA2410959550ARSAc.302_303delinsGC (p.Gly101=)
c.44_45delinsGC (p.Gly15=)
n.693_694delinsGC
22g.50627329C>ACA219014ARSAc.302G>T (p.Gly101Val)
c.44G>T (p.Gly15Val)
n.693G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627329C=CA2410959552ARSAc.302G= (p.Gly101=)
c.44G= (p.Gly15=)
n.693G=
22g.50627329C>GCA412181454ARSAc.302G>C (p.Gly101Ala)
c.44G>C (p.Gly15Ala)
n.693G>C
 gnomAD v4
22g.50627329C>TCA115958ARSAc.302G>A (p.Gly101Asp)
c.44G>A (p.Gly15Asp)
n.693G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627335dupCA10325060ARSAc.302dup (p.Leu102ProfsTer?)
c.44dup (p.Leu16ProfsTer?)
n.693dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627334_50627335dupCA2819314736ARSAc.301_302dup (p.Leu102AlafsTer7)
c.43_44dup (p.Leu16AlafsTer7)
n.692_693dup
22g.50627335delCA10325059ARSAc.302del (p.Gly101AlafsTer7)
c.44del (p.Gly15AlafsTer7)
n.693del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.50627330C>ACA325531597ARSAc.301G>T (p.Gly101Cys)
c.43G>T (p.Gly15Cys)
n.692G>T
 ClinVar dbSNP gnomAD v4
22g.50627330C=CA2410959553ARSAc.301G= (p.Gly101=)
c.43G= (p.Gly15=)
n.692G=
22g.50627330C>GCA412181467ARSAc.301G>C (p.Gly101Arg)
c.43G>C (p.Gly15Arg)
n.692G>C
 gnomAD v4
22g.50627330C>TCA412181468ARSAc.301G>A (p.Gly101Ser)
c.43G>A (p.Gly15Ser)
n.692G>A
 dbSNP gnomAD v2 gnomAD v4
22g.50627331C>ACA515391566ARSAc.300G>T (p.Gly100=)
c.42G>T (p.Gly14=)
n.691G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50627331C=CA2410959554ARSAc.300G= (p.Gly100=)
c.42G= (p.Gly14=)
n.691G=
22g.50627331C>GCA515391567ARSAc.300G>C (p.Gly100=)
c.42G>C (p.Gly14=)
n.691G>C
 ClinVar dbSNP
22g.50627331C>TCA515391568ARSAc.300G>A (p.Gly100=)
c.42G>A (p.Gly14=)
n.691G>A
 ClinVar
22g.50627332C>ACA412181474ARSAc.299G>T (p.Gly100Val)
c.41G>T (p.Gly14Val)
n.690G>T
 gnomAD v4
22g.50627332C=CA2410959555ARSAc.299G= (p.Gly100=)
c.41G= (p.Gly14=)
n.690G=
22g.50627332C>GCA412181482ARSAc.299G>C (p.Gly100Ala)
c.41G>C (p.Gly14Ala)
n.690G>C
 gnomAD v4
22g.50627332C>TCA412181483ARSAc.299G>A (p.Gly100Glu)
c.41G>A (p.Gly14Glu)
n.690G>A
 dbSNP gnomAD v3 gnomAD v4
22g.50627333C>ACA412181486ARSAc.298G>T (p.Gly100Trp)
c.40G>T (p.Gly14Trp)
n.689G>T
22g.50627333C=CA2410959556ARSAc.298G= (p.Gly100=)
c.40G= (p.Gly14=)
n.689G=
22g.50627333C>GCA10325062ARSAc.298G>C (p.Gly100Arg)
c.40G>C (p.Gly14Arg)
n.689G>C
 dbSNP ExAC gnomAD v2
22g.50627333C>TCA412181492ARSAc.298G>A (p.Gly100Arg)
c.40G>A (p.Gly14Arg)
n.689G>A
 dbSNP gnomAD v4
22g.50627334C>ACA515391569ARSAc.297G>T (p.Arg99=)
c.39G>T (p.Arg13=)
n.688G>T
22g.50627334C=CA2410959557ARSAc.297G= (p.Arg99=)
c.39G= (p.Arg13=)
n.688G=
22g.50627334C>GCA325531599ARSAc.297G>C (p.Arg99=)
c.39G>C (p.Arg13=)
n.688G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627334C>TCA515391570ARSAc.297G>A (p.Arg99=)
c.39G>A (p.Arg13=)
n.688G>A
 ClinVar dbSNP gnomAD v4
22g.50627335C>ACA412181503ARSAc.296G>T (p.Arg99Leu)
c.38G>T (p.Arg13Leu)
n.687G>T
 ClinVar dbSNP gnomAD v4
22g.50627335C=CA2410959558ARSAc.296G= (p.Arg99=)
c.38G= (p.Arg13=)
n.687G=
22g.50627335C>GCA10325063ARSAc.296G>C (p.Arg99Pro)
c.38G>C (p.Arg13Pro)
n.687G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627335C>TCA10325064ARSAc.296G>A (p.Arg99Gln)
c.38G>A (p.Arg13Gln)
n.687G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627336G>ACA412181512ARSAc.295C>T (p.Arg99Trp)
c.37C>T (p.Arg13Trp)
n.686C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50627336G>CCA412181517ARSAc.295C>G (p.Arg99Gly)
c.37C>G (p.Arg13Gly)
n.686C>G
 gnomAD v4
22g.50627336G=CA2410959559ARSAc.295C= (p.Arg99=)
c.37C= (p.Arg13=)
n.686C=
22g.50627336G>TCA515391571ARSAc.295C>A (p.Arg99=)
c.37C>A (p.Arg13=)
n.686C>A
 gnomAD v4
22g.50627338dupCA658824689ARSAc.295dup (p.Arg99ProfsTer?)
c.37dup (p.Arg13ProfsTer?)
n.686dup
 ClinVar dbSNP gnomAD v4
22g.50627337G>ACA515391572ARSAc.294C>T (p.Ser98=)
c.36C>T (p.Ser12=)
n.685C>T
 dbSNP gnomAD v4
22g.50627337G>CCA515391573ARSAc.294C>G (p.Ser98=)
c.36C>G (p.Ser12=)
n.685C>G
 ClinVar dbSNP
22g.50627337G=CA2410959560ARSAc.294C= (p.Ser98=)
c.36C= (p.Ser12=)
n.685C=
22g.50627337G>TCA515391574ARSAc.294C>A (p.Ser98=)
c.36C>A (p.Ser12=)
n.685C>A
22g.50627337_50627338insACA916083828ARSAc.293_294insT (p.Arg99ProfsTer?)
c.35_36insT (p.Arg13ProfsTer?)
n.684_685insT
22g.50627338G>ACA115960ARSAc.293C>T (p.Ser98Phe)
c.35C>T (p.Ser12Phe)
n.684C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627338G>CCA412181539ARSAc.293C>G (p.Ser98Cys)
c.35C>G (p.Ser12Cys)
n.684C>G
22g.50627338G=CA2410959561ARSAc.293C= (p.Ser98=)
c.35C= (p.Ser12=)
n.684C=
22g.50627338G>TCA412181529ARSAc.293C>A (p.Ser98Tyr)
c.35C>A (p.Ser12Tyr)
n.684C>A
 gnomAD v4
22g.50627338_50627339delinsAGCA115971ARSAc.292_293delinsCT (p.Ser98Leu)
c.34_35delinsCT (p.Ser12Leu)
n.683_684delinsCT
 ClinVar dbSNP
22g.50627338_50627339delinsGACA2410959562ARSAc.292_293delinsTC (p.Ser98=)
c.34_35delinsTC (p.Ser12=)
n.683_684delinsTC
22g.50627339A>CCA412181547ARSAc.292T>G (p.Ser98Ala)
c.34T>G (p.Ser12Ala)
n.683T>G
22g.50627339A>GCA412181546ARSAc.292T>C (p.Ser98Pro)
c.34T>C (p.Ser12Pro)
n.683T>C
22g.50627339A>TCA412181548ARSAc.292T>A (p.Ser98Thr)
c.34T>A (p.Ser12Thr)
n.683T>A
22g.50627339delinsGGCA2695231031ARSAc.292delinsCC (p.Ser98ProfsTer?)
c.34delinsCC (p.Ser12ProfsTer?)
n.683delinsCC
22g.50627339dupCA2657593962ARSAc.292dup (p.Ser98PhefsTer?)
c.34dup (p.Ser12PhefsTer?)
n.683dup
 gnomAD v4
22g.50627340G>ACA515391575ARSAc.291C>T (p.Ser97=)
c.33C>T (p.Ser11=)
n.682C>T
 ClinVar dbSNP
22g.50627340G>CCA412181550ARSAc.291C>G (p.Ser97Arg)
c.33C>G (p.Ser11Arg)
n.682C>G
22g.50627340G=CA2410959563ARSAc.291C= (p.Ser97=)
c.33C= (p.Ser11=)
n.682C=
22g.50627340G>TCA412181554ARSAc.291C>A (p.Ser97Arg)
c.33C>A (p.Ser11Arg)
n.682C>A
 dbSNP gnomAD v4
22g.50627341C>ACA412181558ARSAc.290G>T (p.Ser97Ile)
c.32G>T (p.Ser11Ile)
n.681G>T
22g.50627341C=CA2410959564ARSAc.290G= (p.Ser97=)
c.32G= (p.Ser11=)
n.681G=
22g.50627341C>GCA412181560ARSAc.290G>C (p.Ser97Thr)
c.32G>C (p.Ser11Thr)
n.681G>C
22g.50627341C>TCA219012ARSAc.290G>A (p.Ser97Asn)
c.32G>A (p.Ser11Asn)
n.681G>A
 ClinVar dbSNP gnomAD v4
22g.50627342T>ACA412181570ARSAc.289A>T (p.Ser97Cys)
c.31A>T (p.Ser11Cys)
n.680A>T
22g.50627342T>CCA412181567ARSAc.289A>G (p.Ser97Gly)
c.31A>G (p.Ser11Gly)
n.680A>G
22g.50627342T>GCA412181565ARSAc.289A>C (p.Ser97Arg)
c.31A>C (p.Ser11Arg)
n.680A>C
22g.50627343G>ACA515391576ARSAc.288C>T (p.Pro96=)
c.30C>T (p.Pro10=)
n.679C>T
22g.50627343G>CCA515391577ARSAc.288C>G (p.Pro96=)
c.30C>G (p.Pro10=)
n.679C>G
22g.50627343G>TCA515391578ARSAc.288C>A (p.Pro96=)
c.30C>A (p.Pro10=)
n.679C>A
 gnomAD v4
22g.50627344G>ACA412181575ARSAc.287C>T (p.Pro96Leu)
c.29C>T (p.Pro10Leu)
n.678C>T
22g.50627344G>CCA412181578ARSAc.287C>G (p.Pro96Arg)
c.29C>G (p.Pro10Arg)
n.678C>G
22g.50627344G>TCA412181583ARSAc.287C>A (p.Pro96His)
c.29C>A (p.Pro10His)
n.678C>A
22g.50627345G>ACA412181590ARSAc.286C>T (p.Pro96Ser)
c.28C>T (p.Pro10Ser)
n.677C>T
 gnomAD v4
22g.50627345G>CCA219010ARSAc.286C>G (p.Pro96Ala)
c.28C>G (p.Pro10Ala)
n.677C>G
 ClinVar dbSNP
22g.50627345G=CA2410959565ARSAc.286C= (p.Pro96=)
c.28C= (p.Pro10=)
n.677C=
22g.50627345G>TCA412181595ARSAc.286C>A (p.Pro96Thr)
c.28C>A (p.Pro10Thr)
n.677C>A
 gnomAD v4
22g.50627346C>ACA515391579ARSAc.285G>T (p.Val95=)
c.27G>T (p.Val9=)
n.676G>T
 gnomAD v4
22g.50627346C>GCA515391580ARSAc.285G>C (p.Val95=)
c.27G>C (p.Val9=)
n.676G>C
 gnomAD v4
22g.50627346C>TCA515391581ARSAc.285G>A (p.Val95=)
c.27G>A (p.Val9=)
n.676G>A
22g.50627347A>CCA412181597ARSAc.284T>G (p.Val95Gly)
c.26T>G (p.Val9Gly)
n.675T>G
22g.50627347A>GCA412181600ARSAc.284T>C (p.Val95Ala)
c.26T>C (p.Val9Ala)
n.675T>C
 gnomAD v4
22g.50627347A>TCA412181599ARSAc.284T>A (p.Val95Glu)
c.26T>A (p.Val9Glu)
n.675T>A
22g.50627348C>ACA412181601ARSAc.283G>T (p.Val95Leu)
c.25G>T (p.Val9Leu)
n.674G>T
22g.50627348C=CA2410959566ARSAc.283G= (p.Val95=)
c.25G= (p.Val9=)
n.674G=
22g.50627348C>GCA412181602ARSAc.283G>C (p.Val95Leu)
c.25G>C (p.Val9Leu)
n.674G>C
22g.50627348C>TCA10325065ARSAc.283G>A (p.Val95Met)
c.25G>A (p.Val9Met)
n.674G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627349C>ACA515391582ARSAc.282G>T (p.Leu94=)
c.24G>T (p.Leu8=)
n.673G>T
 gnomAD v4
22g.50627349C>GCA515391583ARSAc.282G>C (p.Leu94=)
c.24G>C (p.Leu8=)
n.673G>C
22g.50627349C>TCA515391584ARSAc.282G>A (p.Leu94=)
c.24G>A (p.Leu8=)
n.673G>A
22g.50627350A>CCA412181609ARSAc.281T>G (p.Leu94Arg)
c.23T>G (p.Leu8Arg)
n.672T>G
22g.50627350A>GCA412181613ARSAc.281T>C (p.Leu94Pro)
c.23T>C (p.Leu8Pro)
n.672T>C
 gnomAD v4
22g.50627350A>TCA412181616ARSAc.281T>A (p.Leu94Gln)
c.23T>A (p.Leu8Gln)
n.672T>A
22g.50627351G>ACA10325067ARSAc.280C>T (p.Leu94=)
c.22C>T (p.Leu8=)
n.671C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.50627351G>CCA10325066ARSAc.280C>G (p.Leu94Val)
c.22C>G (p.Leu8Val)
n.671C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627351G=CA2410959567ARSAc.280C= (p.Leu94=)
c.22C= (p.Leu8=)
n.671C=
22g.50627351G>TCA412181624ARSAc.280C>A (p.Leu94Met)
c.22C>A (p.Leu8Met)
n.671C>A
22g.50627352G>ACA10325068ARSAc.279C>T (p.Val93=)
c.21C>T (p.Val7=)
n.670C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627352G>CCA515391586ARSAc.279C>G (p.Val93=)
c.21C>G (p.Val7=)
n.670C>G
22g.50627352G=CA2410959568ARSAc.279C= (p.Val93=)
c.21C= (p.Val7=)
n.670C=
22g.50627352G>TCA515391585ARSAc.279C>A (p.Val93=)
c.21C>A (p.Val7=)
n.670C>A
 gnomAD v4
22g.50627353A>CCA412181642ARSAc.278T>G (p.Val93Gly)
c.20T>G (p.Val7Gly)
n.669T>G
 ClinVar dbSNP gnomAD v4
22g.50627353A>GCA412181635ARSAc.278T>C (p.Val93Ala)
c.20T>C (p.Val7Ala)
n.669T>C
22g.50627353A>TCA412181629ARSAc.278T>A (p.Val93Asp)
c.20T>A (p.Val7Asp)
n.669T>A
22g.50627354C>ACA412181650ARSAc.277G>T (p.Val93Phe)
c.19G>T (p.Val7Phe)
n.668G>T
 gnomAD v4
22g.50627354C=CA2410959569ARSAc.277G= (p.Val93=)
c.19G= (p.Val7=)
n.668G=
22g.50627354C>GCA412181654ARSAc.277G>C (p.Val93Leu)
c.19G>C (p.Val7Leu)
n.668G>C
22g.50627354C>TCA10325069ARSAc.277G>A (p.Val93Ile)
c.19G>A (p.Val7Ile)
n.668G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627355G>ACA515391587ARSAc.276C>T (p.Gly92=)
c.18C>T (p.Gly6=)
n.667C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50627355G>CCA515391588ARSAc.276C>G (p.Gly92=)
c.18C>G (p.Gly6=)
n.667C>G
22g.50627355G=CA2410959570ARSAc.276C= (p.Gly92=)
c.18C= (p.Gly6=)
n.667C=
22g.50627355G>TCA325531603ARSAc.276C>A (p.Gly92=)
c.18C>A (p.Gly6=)
n.667C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50627356C>ACA412181669ARSAc.275G>T (p.Gly92Val)
c.17G>T (p.Gly6Val)
n.666G>T
22g.50627356C=CA2410959571ARSAc.275G= (p.Gly92=)
c.17G= (p.Gly6=)
n.666G=
22g.50627356C>GCA412181671ARSAc.275G>C (p.Gly92Ala)
c.17G>C (p.Gly6Ala)
n.666G>C
22g.50627356C>TCA10325070ARSAc.275G>A (p.Gly92Asp)
c.17G>A (p.Gly6Asp)
n.666G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50627357C>ACA412181675ARSAc.274G>T (p.Gly92Cys)
c.16G>T (p.Gly6Cys)
n.665G>T
22g.50627357C>GCA412181677ARSAc.274G>C (p.Gly92Arg)
c.16G>C (p.Gly6Arg)
n.665G>C
22g.50627357C>TCA412181680ARSAc.274G>A (p.Gly92Ser)
c.16G>A (p.Gly6Ser)
n.665G>A
 gnomAD v4

Number of alleles fetched