Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
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
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

Number of alleles fetched