Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.5044192C>ACA478094498KCNA5c.45C>A (p.Thr15=)
dbSNP gnomAD v2 gnomAD v4
12g.5044192C=CA2013430522KCNA5c.45C= (p.Thr15=)
12g.5044192C>GCA478094500KCNA5c.45C>G (p.Thr15=)
12g.5044192C>TCA478094501KCNA5c.45C>T (p.Thr15=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.5044193G>ACA383461787KCNA5c.46G>A (p.Val16Ile)
gnomAD v4
12g.5044193G>CCA383461788KCNA5c.46G>C (p.Val16Leu)
12g.5044193G=CA2013430523KCNA5c.46G= (p.Val16=)
12g.5044193G>TCA383461789KCNA5c.46G>T (p.Val16Phe)
dbSNP gnomAD v3 gnomAD v4
12g.5044194T>ACA383461790KCNA5c.47T>A (p.Val16Asp)
12g.5044194T>CCA383461791KCNA5c.47T>C (p.Val16Ala)
gnomAD v4
12g.5044194T>GCA383461792KCNA5c.47T>G (p.Val16Gly)
12g.5044195C>ACA478094502KCNA5c.48C>A (p.Val16=)
gnomAD v4
12g.5044195C>GCA478094504KCNA5c.48C>G (p.Val16=)
12g.5044195C>TCA478094505KCNA5c.48C>T (p.Val16=)
gnomAD v4
12g.5044196A>CCA478094506KCNA5c.49A>C (p.Arg17=)
12g.5044196A>GCA383461793KCNA5c.49A>G (p.Arg17Gly)
gnomAD v4
12g.5044196A>TCA383461794KCNA5c.49A>T (p.Arg17Ter)
gnomAD v4
12g.5044197G>ACA6399531KCNA5c.50G>A (p.Arg17Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044197G>CCA383461795KCNA5c.50G>C (p.Arg17Thr)
12g.5044197G=CA2013430524KCNA5c.50G= (p.Arg17=)
12g.5044197G>TCA383461796KCNA5c.50G>T (p.Arg17Ile)
gnomAD v4
12g.5044198A>CCA383461797KCNA5c.51A>C (p.Arg17Ser)
12g.5044198A>GCA478094510KCNA5c.51A>G (p.Arg17=)
12g.5044198A>TCA383461798KCNA5c.51A>T (p.Arg17Ser)
12g.5044199G>ACA383461801KCNA5c.52G>A (p.Gly18Arg)
dbSNP gnomAD v4
12g.5044199G>CCA383461799KCNA5c.52G>C (p.Gly18Arg)
12g.5044199G=CA2013430525KCNA5c.52G= (p.Gly18=)
12g.5044199G>TCA383461800KCNA5c.52G>T (p.Gly18Ter)
gnomAD v4
12g.5044200G>ACA231866755KCNA5c.53G>A (p.Gly18Glu)
dbSNP gnomAD v3 gnomAD v4
12g.5044200G>CCA383461802KCNA5c.53G>C (p.Gly18Ala)
12g.5044200G=CA2013430526KCNA5c.53G= (p.Gly18=)
12g.5044200G>TCA383461803KCNA5c.53G>T (p.Gly18Val)
gnomAD v4
12g.5044201A=CA2013430527KCNA5c.54A= (p.Gly18=)
12g.5044201A>CCA478094511KCNA5c.54A>C (p.Gly18=)
12g.5044201A>GCA478094512KCNA5c.54A>G (p.Gly18=)
dbSNP gnomAD v4
12g.5044201A>TCA478094513KCNA5c.54A>T (p.Gly18=)
12g.5044202G>ACA383461804KCNA5c.55G>A (p.Gly19Ser)
dbSNP gnomAD v2 gnomAD v4
12g.5044202G>CCA383461805KCNA5c.55G>C (p.Gly19Arg)
12g.5044202G=CA2013430528KCNA5c.55G= (p.Gly19=)
12g.5044202G>TCA383461806KCNA5c.55G>T (p.Gly19Cys)
gnomAD v4
12g.5044203G>ACA383461807KCNA5c.56G>A (p.Gly19Asp)
ClinVar dbSNP gnomAD v4
12g.5044203G>CCA383461808KCNA5c.56G>C (p.Gly19Ala)
gnomAD v4
12g.5044203G=CA2013430529KCNA5c.56G= (p.Gly19=)
12g.5044203G>TCA383461809KCNA5c.56G>T (p.Gly19Val)
gnomAD v4
12g.5044204C>ACA478094515KCNA5c.57C>A (p.Gly19=)
gnomAD v4
12g.5044204C=CA2013430530KCNA5c.57C= (p.Gly19=)
12g.5044204C>GCA478094516KCNA5c.57C>G (p.Gly19=)
gnomAD v4
12g.5044204C>TCA478094517KCNA5c.57C>T (p.Gly19=)
dbSNP gnomAD v4
12g.5044205G>ACA383461810KCNA5c.58G>A (p.Asp20Asn)
gnomAD v4 COSMIC
12g.5044205G>CCA383461811KCNA5c.58G>C (p.Asp20His)
12g.5044205G>TCA383461812KCNA5c.58G>T (p.Asp20Tyr)
gnomAD v4
12g.5044206A=CA2013430531KCNA5c.59A= (p.Asp20=)
12g.5044206A>CCA383461815KCNA5c.59A>C (p.Asp20Ala)
dbSNP
12g.5044206A>GCA383461814KCNA5c.59A>G (p.Asp20Gly)
gnomAD v4
12g.5044206A>TCA383461813KCNA5c.59A>T (p.Asp20Val)
12g.5044207T>ACA383461817KCNA5c.60T>A (p.Asp20Glu)
gnomAD v4
12g.5044207T>CCA478094518KCNA5c.60T>C (p.Asp20=)
12g.5044207T>GCA383461816KCNA5c.60T>G (p.Asp20Glu)
12g.5044208G>ACA383461820KCNA5c.61G>A (p.Glu21Lys)
ClinVar dbSNP gnomAD v4
12g.5044208G>CCA383461818KCNA5c.61G>C (p.Glu21Gln)
12g.5044208G=CA2013430532KCNA5c.61G= (p.Glu21=)
12g.5044208G>TCA383461819KCNA5c.61G>T (p.Glu21Ter)
gnomAD v4
12g.5044209A=CA2013430533KCNA5c.62A= (p.Glu21=)
12g.5044209A>CCA231866757KCNA5c.62A>C (p.Glu21Ala)
dbSNP
12g.5044209A>GCA383461821KCNA5c.62A>G (p.Glu21Gly)
gnomAD v4
12g.5044209A>TCA383461822KCNA5c.62A>T (p.Glu21Val)
12g.5044210G>ACA478094787KCNA5c.63G>A (p.Glu21=)
gnomAD v4
12g.5044210G>CCA383461823KCNA5c.63G>C (p.Glu21Asp)
12g.5044210G>TCA383461824KCNA5c.63G>T (p.Glu21Asp)
gnomAD v4
12g.5044211G>ACA383461825KCNA5c.64G>A (p.Ala22Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.5044211G>CCA383461826KCNA5c.64G>C (p.Ala22Pro)
gnomAD v4
12g.5044211G=CA2013430534KCNA5c.64G= (p.Ala22=)
12g.5044211G>TCA383461827KCNA5c.64G>T (p.Ala22Ser)
gnomAD v4
12g.5044212C>ACA383461828KCNA5c.65C>A (p.Ala22Asp)
gnomAD v4
12g.5044212C=CA2013430535KCNA5c.65C= (p.Ala22=)
12g.5044212C>GCA383461829KCNA5c.65C>G (p.Ala22Gly)
12g.5044212C>TCA383461830KCNA5c.65C>T (p.Ala22Val)
dbSNP gnomAD v2 gnomAD v4
12g.5044213C>ACA478094791KCNA5c.66C>A (p.Ala22=)
12g.5044213C>GCA478094792KCNA5c.66C>G (p.Ala22=)
12g.5044213C>TCA478094793KCNA5c.66C>T (p.Ala22=)
gnomAD v4
12g.5044214C>ACA478094795KCNA5c.67C>A (p.Arg23=)
gnomAD v4
12g.5044214C=CA2013430536KCNA5c.67C= (p.Arg23=)
12g.5044214C>GCA6399533KCNA5c.67C>G (p.Arg23Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044214C>TCA6399532KCNA5c.67C>T (p.Arg23Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044215G>ACA383461831KCNA5c.68G>A (p.Arg23Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.5044215G>CCA383461832KCNA5c.68G>C (p.Arg23Pro)
dbSNP gnomAD v4
12g.5044215G=CA2013430537KCNA5c.68G= (p.Arg23=)
12g.5044215G>TCA383461833KCNA5c.68G>T (p.Arg23Leu)
gnomAD v4
12g.5044216G>ACA478094797KCNA5c.69G>A (p.Arg23=)
ClinVar gnomAD v4 COSMIC
12g.5044216G>CCA478094798KCNA5c.69G>C (p.Arg23=)
12g.5044216G>TCA478094799KCNA5c.69G>T (p.Arg23=)
gnomAD v4
12g.5044217G>ACA383461834KCNA5c.70G>A (p.Ala24Thr)
gnomAD v4
12g.5044217G>CCA383461835KCNA5c.70G>C (p.Ala24Pro)
12g.5044217G=CA2013430538KCNA5c.70G= (p.Ala24=)
12g.5044217G>TCA383461836KCNA5c.70G>T (p.Ala24Ser)
ClinVar dbSNP gnomAD v4
12g.5044218C>ACA383461837KCNA5c.71C>A (p.Ala24Glu)
gnomAD v4
12g.5044218C>GCA383461838KCNA5c.71C>G (p.Ala24Gly)
12g.5044218C>TCA383461839KCNA5c.71C>T (p.Ala24Val)
gnomAD v4
12g.5044219A=CA2013430539KCNA5c.72A= (p.Ala24=)
12g.5044219A>CCA478094801KCNA5c.72A>C (p.Ala24=)
12g.5044219A>GCA478094802KCNA5c.72A>G (p.Ala24=)
dbSNP gnomAD v3 gnomAD v4
12g.5044219A>TCA478094803KCNA5c.72A>T (p.Ala24=)
12g.5044220G>ACA383461840KCNA5c.73G>A (p.Gly25Ser)
12g.5044220G>CCA383461841KCNA5c.73G>C (p.Gly25Arg)
12g.5044220G>TCA383461842KCNA5c.73G>T (p.Gly25Cys)
gnomAD v4
12g.5044221G>ACA383461845KCNA5c.74G>A (p.Gly25Asp)
gnomAD v4
12g.5044221G>CCA383461844KCNA5c.74G>C (p.Gly25Ala)
gnomAD v4
12g.5044221G>TCA383461843KCNA5c.74G>T (p.Gly25Val)
gnomAD v4
12g.5044222C>ACA478094807KCNA5c.75C>A (p.Gly25=)
gnomAD v4
12g.5044222C>GCA478094808KCNA5c.75C>G (p.Gly25=)
12g.5044222C>TCA478094809KCNA5c.75C>T (p.Gly25=)
gnomAD v4
12g.5044223T>ACA383461846KCNA5c.76T>A (p.Cys26Ser)
dbSNP gnomAD v4
12g.5044223T>CCA383461847KCNA5c.76T>C (p.Cys26Arg)
dbSNP gnomAD v4
12g.5044223T>GCA383461848KCNA5c.76T>G (p.Cys26Gly)
gnomAD v4
12g.5044223T=CA2013430540KCNA5c.76T= (p.Cys26=)
12g.5044224G>ACA383461849KCNA5c.77G>A (p.Cys26Tyr)
gnomAD v4
12g.5044224G>CCA383461850KCNA5c.77G>C (p.Cys26Ser)
12g.5044224G>TCA383461851KCNA5c.77G>T (p.Cys26Phe)
gnomAD v4
12g.5044225C>ACA383461852KCNA5c.78C>A (p.Cys26Ter)
gnomAD v4
12g.5044225C=CA2013430541KCNA5c.78C= (p.Cys26=)
12g.5044225C>GCA383461853KCNA5c.78C>G (p.Cys26Trp)
12g.5044225C>TCA6399534KCNA5c.78C>T (p.Cys26=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044226G>ACA6399535KCNA5c.79G>A (p.Gly27Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044226G>CCA383461854KCNA5c.79G>C (p.Gly27Arg)
12g.5044226G=CA2013430542KCNA5c.79G= (p.Gly27=)
12g.5044226G>TCA383461855KCNA5c.79G>T (p.Gly27Cys)
gnomAD v4
12g.5044227G>ACA6399536KCNA5c.80G>A (p.Gly27Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044227G>CCA383461857KCNA5c.80G>C (p.Gly27Ala)
12g.5044227G=CA2013430543KCNA5c.80G= (p.Gly27=)
12g.5044227G>TCA383461856KCNA5c.80G>T (p.Gly27Val)
dbSNP gnomAD v4
12g.5044228C>ACA478094818KCNA5c.81C>A (p.Gly27=)
gnomAD v4
12g.5044228C=CA2013430544KCNA5c.81C= (p.Gly27=)
12g.5044228C>GCA478094819KCNA5c.81C>G (p.Gly27=)
gnomAD v4
12g.5044228C>TCA478094821KCNA5c.81C>T (p.Gly27=)
dbSNP gnomAD v2 gnomAD v4
12g.5044229C>ACA383461858KCNA5c.82C>A (p.Gln28Lys)
gnomAD v4
12g.5044229C>GCA383461859KCNA5c.82C>G (p.Gln28Glu)
12g.5044229C>TCA383461860KCNA5c.82C>T (p.Gln28Ter)
gnomAD v4
12g.5044230A>CCA383461861KCNA5c.83A>C (p.Gln28Pro)
12g.5044230A>GCA383461862KCNA5c.83A>G (p.Gln28Arg)
gnomAD v4
12g.5044230A>TCA383461863KCNA5c.83A>T (p.Gln28Leu)
COSMIC
12g.5044231G>ACA478094823KCNA5c.84G>A (p.Gln28=)
gnomAD v4
12g.5044231G>CCA383461864KCNA5c.84G>C (p.Gln28His)
12g.5044231G>TCA383461865KCNA5c.84G>T (p.Gln28His)
gnomAD v4
12g.5044232G>ACA383461866KCNA5c.85G>A (p.Ala29Thr)
gnomAD v4
12g.5044232G>CCA383461867KCNA5c.85G>C (p.Ala29Pro)
12g.5044232G>TCA383461868KCNA5c.85G>T (p.Ala29Ser)
gnomAD v4
12g.5044233C>ACA6399537KCNA5c.86C>A (p.Ala29Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044233C=CA2013430545KCNA5c.86C= (p.Ala29=)
12g.5044233C>GCA383461869KCNA5c.86C>G (p.Ala29Gly)
12g.5044233C>TCA383461870KCNA5c.86C>T (p.Ala29Val)
gnomAD v4
12g.5044234C>ACA478094825KCNA5c.87C>A (p.Ala29=)
gnomAD v4
12g.5044234C=CA2013430546KCNA5c.87C= (p.Ala29=)
12g.5044234C>GCA478094826KCNA5c.87C>G (p.Ala29=)
12g.5044234C>TCA478094827KCNA5c.87C>T (p.Ala29=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5044235A>CCA383461872KCNA5c.88A>C (p.Thr30Pro)
gnomAD v4
12g.5044235A>GCA383461873KCNA5c.88A>G (p.Thr30Ala)
gnomAD v4
12g.5044235A>TCA383461871KCNA5c.88A>T (p.Thr30Ser)
gnomAD v4
12g.5044236C>ACA383461874KCNA5c.89C>A (p.Thr30Lys)
gnomAD v4
12g.5044236C>GCA383461876KCNA5c.89C>G (p.Thr30Arg)
gnomAD v4
12g.5044236C>TCA383461875KCNA5c.89C>T (p.Thr30Ile)
gnomAD v4
12g.5044237A=CA2013430547KCNA5c.90A= (p.Thr30=)
12g.5044237A>CCA478094829KCNA5c.90A>C (p.Thr30=)
12g.5044237A>GCA478094831KCNA5c.90A>G (p.Thr30=)
gnomAD v4
12g.5044237A>TCA478094830KCNA5c.90A>T (p.Thr30=)
gnomAD v4
12g.5044238G>ACA383461877KCNA5c.91G>A (p.Gly31Arg)
gnomAD v4 COSMIC
12g.5044238G>CCA383461878KCNA5c.91G>C (p.Gly31Arg)
ClinVar dbSNP
12g.5044238G=CA2013430548KCNA5c.91G= (p.Gly31=)
12g.5044238G>TCA383461879KCNA5c.91G>T (p.Gly31Trp)
gnomAD v4
12g.5044242dupCA915947829KCNA5c.95dup (p.Glu33ArgfsTer?)
ClinVar dbSNP
12g.5044242delCA2575052156KCNA5c.95del (p.Gly32GlufsTer?)
gnomAD v4
12g.5044239G>ACA383461880KCNA5c.92G>A (p.Gly31Glu)
dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.5044239G>CCA6399539KCNA5c.92G>C (p.Gly31Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044239G=CA2013430549KCNA5c.92G= (p.Gly31=)
12g.5044239G>TCA6399538KCNA5c.92G>T (p.Gly31Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044240G>ACA478094833KCNA5c.93G>A (p.Gly31=)
12g.5044240G>CCA478094834KCNA5c.93G>C (p.Gly31=)
gnomAD v4
12g.5044240G>TCA478094836KCNA5c.93G>T (p.Gly31=)
gnomAD v4
12g.5044241G>ACA383461883KCNA5c.94G>A (p.Gly32Arg)
dbSNP gnomAD v2 gnomAD v4
12g.5044241G>CCA383461882KCNA5c.94G>C (p.Gly32Arg)
12g.5044241G=CA2013430550KCNA5c.94G= (p.Gly32=)
12g.5044241G>TCA383461881KCNA5c.94G>T (p.Gly32Ter)
gnomAD v4
12g.5044242G>ACA383461884KCNA5c.95G>A (p.Gly32Glu)
ClinVar dbSNP gnomAD v4
12g.5044242G>CCA383461885KCNA5c.95G>C (p.Gly32Ala)
12g.5044242G=CA2013430551KCNA5c.95G= (p.Gly32=)
12g.5044242G>TCA383461886KCNA5c.95G>T (p.Gly32Val)
dbSNP gnomAD v4
12g.5044243A=CA2013430552KCNA5c.96A= (p.Gly32=)
12g.5044243A>CCA478094838KCNA5c.96A>C (p.Gly32=)
12g.5044243A>GCA478094840KCNA5c.96A>G (p.Gly32=)
dbSNP gnomAD v4
12g.5044243A>TCA478094839KCNA5c.96A>T (p.Gly32=)
12g.5044244G>ACA383461887KCNA5c.97G>A (p.Glu33Lys)
gnomAD v4
12g.5044244G>CCA231866781KCNA5c.97G>C (p.Glu33Gln)
ClinVar dbSNP gnomAD v4
12g.5044244G=CA2013430553KCNA5c.97G= (p.Glu33=)
12g.5044244G>TCA383461888KCNA5c.97G>T (p.Glu33Ter)
gnomAD v4
12g.5044245A=CA2013430554KCNA5c.98A= (p.Glu33=)
12g.5044245A>CCA383461889KCNA5c.98A>C (p.Glu33Ala)
gnomAD v4
12g.5044245A>GCA383461890KCNA5c.98A>G (p.Glu33Gly)
gnomAD v4
12g.5044245A>TCA6399540KCNA5c.98A>T (p.Glu33Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044246G>ACA478094844KCNA5c.99G>A (p.Glu33=)
gnomAD v4
12g.5044246G>CCA383461891KCNA5c.99G>C (p.Glu33Asp)
12g.5044246G>TCA383461892KCNA5c.99G>T (p.Glu33Asp)
gnomAD v4
12g.5044247C>ACA383461893KCNA5c.100C>A (p.Leu34Ile)
gnomAD v4
12g.5044247C>GCA383461894KCNA5c.100C>G (p.Leu34Val)
12g.5044247C>TCA383461895KCNA5c.100C>T (p.Leu34Phe)
gnomAD v4
12g.5044248T>ACA383461896KCNA5c.101T>A (p.Leu34His)
gnomAD v4
12g.5044248T>CCA383461897KCNA5c.101T>C (p.Leu34Pro)
gnomAD v4
12g.5044248T>GCA383461898KCNA5c.101T>G (p.Leu34Arg)
gnomAD v4
12g.5044249C>ACA478094846KCNA5c.102C>A (p.Leu34=)
12g.5044249C>GCA478094850KCNA5c.102C>G (p.Leu34=)
12g.5044249C>TCA478094848KCNA5c.102C>T (p.Leu34=)
gnomAD v4
12g.5044250C>ACA383461899KCNA5c.103C>A (p.Gln35Lys)
gnomAD v4
12g.5044250C>GCA383461900KCNA5c.103C>G (p.Gln35Glu)
12g.5044250C>TCA383461901KCNA5c.103C>T (p.Gln35Ter)
gnomAD v4
12g.5044251A>CCA383461902KCNA5c.104A>C (p.Gln35Pro)
12g.5044251A>GCA383461904KCNA5c.104A>G (p.Gln35Arg)
gnomAD v4
12g.5044251A>TCA383461903KCNA5c.104A>T (p.Gln35Leu)
gnomAD v4
12g.5044252G>ACA478094853KCNA5c.105G>A (p.Gln35=)
12g.5044252G>CCA383461905KCNA5c.105G>C (p.Gln35His)
12g.5044252G>TCA383461906KCNA5c.105G>T (p.Gln35His)
gnomAD v4
12g.5044253T>ACA231866787KCNA5c.106T>A (p.Cys36Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5044253T>CCA383461907KCNA5c.106T>C (p.Cys36Arg)
dbSNP gnomAD v4
12g.5044253T>GCA383461908KCNA5c.106T>G (p.Cys36Gly)
gnomAD v4
12g.5044253T=CA2013430555KCNA5c.106T= (p.Cys36=)
12g.5044254G>ACA383461909KCNA5c.107G>A (p.Cys36Tyr)
gnomAD v4
12g.5044254G>CCA383461910KCNA5c.107G>C (p.Cys36Ser)
12g.5044254G>TCA383461911KCNA5c.107G>T (p.Cys36Phe)
gnomAD v4
12g.5044255T>ACA383461912KCNA5c.108T>A (p.Cys36Ter)
12g.5044255T>CCA478094859KCNA5c.108T>C (p.Cys36=)
gnomAD v4
12g.5044255T>GCA383461913KCNA5c.108T>G (p.Cys36Trp)
12g.5044256C>ACA383461914KCNA5c.109C>A (p.Pro37Thr)
gnomAD v4
12g.5044256C=CA2013430556KCNA5c.109C= (p.Pro37=)
12g.5044256C>GCA383461915KCNA5c.109C>G (p.Pro37Ala)
gnomAD v4
12g.5044256C>TCA6399541KCNA5c.109C>T (p.Pro37Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044260delCA2617209882KCNA5c.113del (p.Pro38ArgfsTer?)
gnomAD v4
12g.5044257C>ACA383461916KCNA5c.110C>A (p.Pro37His)
gnomAD v4
12g.5044257C=CA2013430557KCNA5c.110C= (p.Pro37=)
12g.5044257C>GCA383461917KCNA5c.110C>G (p.Pro37Arg)
dbSNP gnomAD v4
12g.5044257C>TCA231866796KCNA5c.110C>T (p.Pro37Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.5044258C>ACA6399542KCNA5c.111C>A (p.Pro37=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044258C=CA2013430558KCNA5c.111C= (p.Pro37=)
12g.5044258C>GCA478094865KCNA5c.111C>G (p.Pro37=)
12g.5044258C>TCA478094866KCNA5c.111C>T (p.Pro37=)
dbSNP gnomAD v2 gnomAD v4
12g.5044259C>ACA383461918KCNA5c.112C>A (p.Pro38Thr)
gnomAD v4
12g.5044259C=CA2013430559KCNA5c.112C= (p.Pro38=)
12g.5044259C>GCA383461919KCNA5c.112C>G (p.Pro38Ala)
gnomAD v4
12g.5044259C>TCA231866803KCNA5c.112C>T (p.Pro38Ser)
dbSNP
12g.5044260C>ACA383461920KCNA5c.113C>A (p.Pro38Gln)
gnomAD v4
12g.5044260C=CA2013430560KCNA5c.113C= (p.Pro38=)
12g.5044260C>GCA383461921KCNA5c.113C>G (p.Pro38Arg)
12g.5044260C>TCA383461922KCNA5c.113C>T (p.Pro38Leu)
dbSNP gnomAD v4
12g.5044261delCA2617209883KCNA5c.114del (p.Thr39ArgfsTer?)
gnomAD v4
12g.5044261G>ACA478094870KCNA5c.114G>A (p.Pro38=)
dbSNP gnomAD v2 gnomAD v4
12g.5044261G>CCA478094871KCNA5c.114G>C (p.Pro38=)
12g.5044261G=CA2013430561KCNA5c.114G= (p.Pro38=)
12g.5044261G>TCA478094873KCNA5c.114G>T (p.Pro38=)
gnomAD v4
12g.5044262A=CA2013430562KCNA5c.115A= (p.Thr39=)
12g.5044262A>CCA383461923KCNA5c.115A>C (p.Thr39Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.5044262A>GCA383461924KCNA5c.115A>G (p.Thr39Ala)
12g.5044262A>TCA383461925KCNA5c.115A>T (p.Thr39Ser)
12g.5044263C>ACA383461928KCNA5c.116C>A (p.Thr39Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.5044263C=CA2013430563KCNA5c.116C= (p.Thr39=)
12g.5044263C>GCA383461927KCNA5c.116C>G (p.Thr39Arg)
12g.5044263C>TCA383461926KCNA5c.116C>T (p.Thr39Met)
gnomAD v4
12g.5044264G>ACA478094874KCNA5c.117G>A (p.Thr39=)
gnomAD v4
12g.5044264G>CCA478094879KCNA5c.117G>C (p.Thr39=)
dbSNP gnomAD v4
12g.5044264G=CA2013430564KCNA5c.117G= (p.Thr39=)
12g.5044264G>TCA478094877KCNA5c.117G>T (p.Thr39=)
gnomAD v4
12g.5044265G>ACA231866808KCNA5c.118G>A (p.Ala40Thr)
dbSNP gnomAD v2 gnomAD v4
12g.5044265G>CCA383461929KCNA5c.118G>C (p.Ala40Pro)
gnomAD v4
12g.5044265G=CA2013430565KCNA5c.118G= (p.Ala40=)
12g.5044265G>TCA383461930KCNA5c.118G>T (p.Ala40Ser)
dbSNP gnomAD v2 gnomAD v4
12g.5044266C>ACA383461931KCNA5c.119C>A (p.Ala40Asp)
gnomAD v4
12g.5044266C>GCA383461932KCNA5c.119C>G (p.Ala40Gly)
gnomAD v4
12g.5044266C>TCA383461933KCNA5c.119C>T (p.Ala40Val)
gnomAD v4
12g.5044267T>ACA478094882KCNA5c.120T>A (p.Ala40=)
12g.5044267T>CCA478094886KCNA5c.120T>C (p.Ala40=)
gnomAD v4
12g.5044267T>GCA478094884KCNA5c.120T>G (p.Ala40=)
12g.5044268G>ACA383461934KCNA5c.121G>A (p.Gly41Arg)
gnomAD v4
12g.5044268G>CCA383461935KCNA5c.121G>C (p.Gly41Arg)
12g.5044268G>TCA383461936KCNA5c.121G>T (p.Gly41Trp)
gnomAD v4
12g.5044270delCA2617209884KCNA5c.123del (p.Leu42SerfsTer?)
gnomAD v4
12g.5044269G>ACA6399543KCNA5c.122G>A (p.Gly41Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.5044269G>CCA383461937KCNA5c.122G>C (p.Gly41Ala)
dbSNP
12g.5044269G=CA2013430566KCNA5c.122G= (p.Gly41=)
12g.5044269G>TCA383461938KCNA5c.122G>T (p.Gly41Val)
gnomAD v4
12g.5044270G>ACA478094891KCNA5c.123G>A (p.Gly41=)
dbSNP gnomAD v3 gnomAD v4
12g.5044270G>CCA6399544KCNA5c.123G>C (p.Gly41=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044270G=CA2013430567KCNA5c.123G= (p.Gly41=)
12g.5044270G>TCA478094889KCNA5c.123G>T (p.Gly41=)
gnomAD v4
12g.5044271C>ACA383461941KCNA5c.124C>A (p.Leu42Ile)
gnomAD v4
12g.5044271C>GCA383461940KCNA5c.124C>G (p.Leu42Val)
12g.5044271C>TCA383461939KCNA5c.124C>T (p.Leu42Phe)
12g.5044272T>ACA383461942KCNA5c.125T>A (p.Leu42His)
12g.5044272T>CCA383461943KCNA5c.125T>C (p.Leu42Pro)
12g.5044272T>GCA383461944KCNA5c.125T>G (p.Leu42Arg)
12g.5044273C>ACA478094894KCNA5c.126C>A (p.Leu42=)
gnomAD v4
12g.5044273C>GCA478094896KCNA5c.126C>G (p.Leu42=)
12g.5044273C>TCA478094895KCNA5c.126C>T (p.Leu42=)
gnomAD v4
12g.5044274A=CA2013430568KCNA5c.127A= (p.Ser43=)
12g.5044274A>CCA383461945KCNA5c.127A>C (p.Ser43Arg)
12g.5044274A>GCA383461946KCNA5c.127A>G (p.Ser43Gly)
gnomAD v4
12g.5044274A>TCA383461947KCNA5c.127A>T (p.Ser43Cys)
dbSNP gnomAD v2 gnomAD v4
12g.5044275G>ACA383461948KCNA5c.128G>A (p.Ser43Asn)
12g.5044275G>CCA383461949KCNA5c.128G>C (p.Ser43Thr)
12g.5044275G>TCA383461950KCNA5c.128G>T (p.Ser43Ile)
gnomAD v4
12g.5044276C>ACA383461951KCNA5c.129C>A (p.Ser43Arg)
dbSNP gnomAD v4
12g.5044276C=CA2013430569KCNA5c.129C= (p.Ser43=)
12g.5044276C>GCA383461952KCNA5c.129C>G (p.Ser43Arg)
12g.5044276C>TCA478094900KCNA5c.129C>T (p.Ser43=)
dbSNP gnomAD v2 gnomAD v4
12g.5044277G>ACA231866822KCNA5c.130G>A (p.Asp44Asn)
dbSNP gnomAD v4
12g.5044277G>CCA383461953KCNA5c.130G>C (p.Asp44His)
12g.5044277G=CA2013430570KCNA5c.130G= (p.Asp44=)
12g.5044277G>TCA383461954KCNA5c.130G>T (p.Asp44Tyr)
gnomAD v4
12g.5044278A>CCA383461956KCNA5c.131A>C (p.Asp44Ala)
12g.5044278A>GCA383461957KCNA5c.131A>G (p.Asp44Gly)
12g.5044278A>TCA383461955KCNA5c.131A>T (p.Asp44Val)
gnomAD v4
12g.5044279T>ACA383461958KCNA5c.132T>A (p.Asp44Glu)
12g.5044279T>CCA478094903KCNA5c.132T>C (p.Asp44=)
dbSNP gnomAD v2 gnomAD v4
12g.5044279T>GCA383461959KCNA5c.132T>G (p.Asp44Glu)
12g.5044279T=CA2013430571KCNA5c.132T= (p.Asp44=)
12g.5044280G>ACA383461960KCNA5c.133G>A (p.Gly45Arg)
gnomAD v4
12g.5044280G>CCA383461961KCNA5c.133G>C (p.Gly45Arg)
12g.5044280G>TCA383461962KCNA5c.133G>T (p.Gly45Trp)
gnomAD v4
12g.5044281G>ACA383461963KCNA5c.134G>A (p.Gly45Glu)
gnomAD v4
12g.5044281G>CCA383461964KCNA5c.134G>C (p.Gly45Ala)
12g.5044281G>TCA383461965KCNA5c.134G>T (p.Gly45Val)
gnomAD v4
12g.5044282G>ACA6399545KCNA5c.135G>A (p.Gly45=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044282G>CCA478094905KCNA5c.135G>C (p.Gly45=)
12g.5044282G=CA2013430572KCNA5c.135G= (p.Gly45=)
12g.5044282G>TCA478094907KCNA5c.135G>T (p.Gly45=)
dbSNP gnomAD v2 gnomAD v4
12g.5044283C>ACA383461966KCNA5c.136C>A (p.Pro46Thr)
gnomAD v4
12g.5044283C=CA2013430573KCNA5c.136C= (p.Pro46=)
12g.5044283C>GCA383461967KCNA5c.136C>G (p.Pro46Ala)
12g.5044283C>TCA383461968KCNA5c.136C>T (p.Pro46Ser)
dbSNP gnomAD v4
12g.5044284C>ACA383461971KCNA5c.137C>A (p.Pro46His)
gnomAD v4
12g.5044284C>GCA383461969KCNA5c.137C>G (p.Pro46Arg)
12g.5044284C>TCA383461970KCNA5c.137C>T (p.Pro46Leu)
gnomAD v4
12g.5044285C>ACA478094911KCNA5c.138C>A (p.Pro46=)
gnomAD v4
12g.5044285C=CA2013430574KCNA5c.138C= (p.Pro46=)
12g.5044285C>GCA478094909KCNA5c.138C>G (p.Pro46=)
gnomAD v4
12g.5044285C>TCA478094910KCNA5c.138C>T (p.Pro46=)
dbSNP gnomAD v4
12g.5044286A>CCA383461972KCNA5c.139A>C (p.Lys47Gln)
12g.5044286A>GCA383461973KCNA5c.139A>G (p.Lys47Glu)
gnomAD v4
12g.5044286A>TCA383461974KCNA5c.139A>T (p.Lys47Ter)
12g.5044287A=CA2013430575KCNA5c.140A= (p.Lys47=)
12g.5044287A>CCA383461975KCNA5c.140A>C (p.Lys47Thr)
dbSNP gnomAD v2 gnomAD v4
12g.5044287A>GCA10633067KCNA5c.140A>G (p.Lys47Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5044287A>TCA383461976KCNA5c.140A>T (p.Lys47Met)
12g.5044288G>ACA478094912KCNA5c.141G>A (p.Lys47=)
dbSNP gnomAD v2 gnomAD v4
12g.5044288G>CCA383461977KCNA5c.141G>C (p.Lys47Asn)
gnomAD v4
12g.5044288G=CA2013430576KCNA5c.141G= (p.Lys47=)
12g.5044288G>TCA383461978KCNA5c.141G>T (p.Lys47Asn)
gnomAD v4
12g.5044289dupCA2617209885KCNA5c.142dup (p.Glu48GlyfsTer?)
gnomAD v4
12g.5044289G>ACA383461979KCNA5c.142G>A (p.Glu48Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.5044289G>CCA383461980KCNA5c.142G>C (p.Glu48Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.5044289G=CA2013430577KCNA5c.142G= (p.Glu48=)
12g.5044289G>TCA383461981KCNA5c.142G>T (p.Glu48Ter)
gnomAD v4
12g.5044290A=CA2013430578KCNA5c.143A= (p.Glu48=)
12g.5044290A>CCA383461982KCNA5c.143A>C (p.Glu48Ala)
12g.5044290A>GCA151380KCNA5c.143A>G (p.Glu48Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044290A>TCA383461983KCNA5c.143A>T (p.Glu48Val)
12g.5044291G>ACA478094916KCNA5c.144G>A (p.Glu48=)
gnomAD v4
12g.5044291G>CCA6399546KCNA5c.144G>C (p.Glu48Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.5044291G=CA2013430579KCNA5c.144G= (p.Glu48=)
12g.5044291G>TCA383461984KCNA5c.144G>T (p.Glu48Asp)
gnomAD v4
12g.5044292C>ACA383461985KCNA5c.145C>A (p.Pro49Thr)
dbSNP gnomAD v2 gnomAD v4
12g.5044292C=CA2013430580KCNA5c.145C= (p.Pro49=)
12g.5044292C>GCA383461987KCNA5c.145C>G (p.Pro49Ala)
12g.5044292C>TCA383461986KCNA5c.145C>T (p.Pro49Ser)
dbSNP gnomAD v4

Number of alleles fetched