Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.140114744_140114759delCA2573052440PURAc.563_578del (p.Ile188ArgfsTer?)
ClinVar dbSNP
5g.140114759A>CCA361491069PURAc.578A>C (p.Gln193Pro)
5g.140114759A>GCA361491070PURAc.578A>G (p.Gln193Arg)
5g.140114759A>TCA361491071PURAc.578A>T (p.Gln193Leu)
5g.140114760G>ACA446831044PURAc.579G>A (p.Gln193=)
gnomAD v4
5g.140114760G>CCA361491072PURAc.579G>C (p.Gln193His)
5g.140114760G>TCA361491073PURAc.579G>T (p.Gln193His)
5g.140114761G>ACA361491076PURAc.580G>A (p.Gly194Arg)
5g.140114761G>CCA361491075PURAc.580G>C (p.Gly194Arg)
5g.140114761G>TCA361491074PURAc.580G>T (p.Gly194Trp)
5g.140114762G>ACA361491077PURAc.581G>A (p.Gly194Glu)
5g.140114762G>CCA361491078PURAc.581G>C (p.Gly194Ala)
5g.140114762G>TCA361491079PURAc.581G>T (p.Gly194Val)
5g.140114763G>ACA446831049PURAc.582G>A (p.Gly194=)
5g.140114763G>CCA446831048PURAc.582G>C (p.Gly194=)
ClinVar dbSNP COSMIC
5g.140114763G=CA1586595210PURAc.582G= (p.Gly194=)
5g.140114763G>TCA128789414PURAc.582G>T (p.Gly194=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.140114764C>ACA361491080PURAc.583C>A (p.Leu195Ile)
5g.140114764C>GCA361491081PURAc.583C>G (p.Leu195Val)
5g.140114764C>TCA361491082PURAc.583C>T (p.Leu195Phe)
5g.140114764_140114783delCA2580072967PURAc.583_602del (p.Leu195SerfsTer?)
ClinVar
5g.140114765T>ACA361491083PURAc.584T>A (p.Leu195His)
ClinVar dbSNP
5g.140114765T>CCA361491085PURAc.584T>C (p.Leu195Pro)
5g.140114765T>GCA361491084PURAc.584T>G (p.Leu195Arg)
5g.140114765T=CA1586595231PURAc.584T= (p.Leu195=)
5g.140114767_140114769delCA2739289802PURAc.586_588del (p.Ile196del)
ClinVar
5g.140114766C>ACA446831050PURAc.585C>A (p.Leu195=)
5g.140114766C=CA1586595241PURAc.585C= (p.Leu195=)
5g.140114766C>GCA446831051PURAc.585C>G (p.Leu195=)
ClinVar dbSNP
5g.140114766C>TCA446831052PURAc.585C>T (p.Leu195=)
ClinVar
5g.140114767delCA2695205333PURAc.586del (p.Ile196SerfsTer29)
5g.140114767A>CCA361491086PURAc.586A>C (p.Ile196Leu)
5g.140114767A>GCA361491087PURAc.586A>G (p.Ile196Val)
5g.140114767A>TCA361491088PURAc.586A>T (p.Ile196Phe)
5g.140114768T>ACA361491089PURAc.587T>A (p.Ile196Asn)
5g.140114768T>CCA361491090PURAc.587T>C (p.Ile196Thr)
5g.140114768T>GCA361491091PURAc.587T>G (p.Ile196Ser)
5g.140114769C>ACA446831056PURAc.588C>A (p.Ile196=)
5g.140114769C=CA1586595252PURAc.588C= (p.Ile196=)
5g.140114769C>GCA361491092PURAc.588C>G (p.Ile196Met)
5g.140114769C>TCA446831057PURAc.588C>T (p.Ile196=)
ClinVar dbSNP
5g.140114770G>ACA361491093PURAc.589G>A (p.Glu197Lys)
5g.140114770G>CCA361491094PURAc.589G>C (p.Glu197Gln)
5g.140114770G>TCA361491095PURAc.589G>T (p.Glu197Ter)
5g.140114771A>CCA361491098PURAc.590A>C (p.Glu197Ala)
5g.140114771A>GCA361491097PURAc.590A>G (p.Glu197Gly)
5g.140114771A>TCA361491096PURAc.590A>T (p.Glu197Val)
5g.140114772G>ACA446831058PURAc.591G>A (p.Glu197=)
dbSNP gnomAD v2 gnomAD v4
5g.140114772G>CCA361491099PURAc.591G>C (p.Glu197Asp)
5g.140114772G=CA1586595259PURAc.591G= (p.Glu197=)
5g.140114772G>TCA361491100PURAc.591G>T (p.Glu197Asp)
5g.140114773T>ACA361491101PURAc.592T>A (p.Phe198Ile)
5g.140114773T>CCA361491102PURAc.592T>C (p.Phe198Leu)
5g.140114773T>GCA361491103PURAc.592T>G (p.Phe198Val)
5g.140114774dupCA2695205334PURAc.593dup (p.Arg199ProfsTer2)
5g.140114774T>ACA361491104PURAc.593T>A (p.Phe198Tyr)
5g.140114774T>CCA361491105PURAc.593T>C (p.Phe198Ser)
5g.140114774T>GCA361491106PURAc.593T>G (p.Phe198Cys)
5g.140114775C>ACA361491107PURAc.594C>A (p.Phe198Leu)
5g.140114775C>GCA361491108PURAc.594C>G (p.Phe198Leu)
5g.140114775C>TCA446831063PURAc.594C>T (p.Phe198=)
5g.140114776C>ACA361491109PURAc.595C>A (p.Arg199Ser)
5g.140114776C=CA1586595265PURAc.595C= (p.Arg199=)
5g.140114776C>GCA361491111PURAc.595C>G (p.Arg199Gly)
5g.140114776C>TCA361491110PURAc.595C>T (p.Arg199Cys)
ClinVar dbSNP
5g.140114777G>ACA361491112PURAc.596G>A (p.Arg199His)
5g.140114777G>CCA249904PURAc.596G>C (p.Arg199Pro)
ClinVar dbSNP
5g.140114777G=CA1586595272PURAc.596G= (p.Arg199=)
5g.140114777G>TCA361491113PURAc.596G>T (p.Arg199Leu)
5g.140114778T>ACA446831067PURAc.597T>A (p.Arg199=)
5g.140114778T>CCA128789415PURAc.597T>C (p.Arg199=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114778T>GCA446831068PURAc.597T>G (p.Arg199=)
5g.140114778T=CA1586595284PURAc.597T= (p.Arg199=)
5g.140114779G>ACA361491114PURAc.598G>A (p.Asp200Asn)
5g.140114779G>CCA361491116PURAc.598G>C (p.Asp200His)
5g.140114779G>TCA361491115PURAc.598G>T (p.Asp200Tyr)
5g.140114780A>CCA361491117PURAc.599A>C (p.Asp200Ala)
5g.140114780A>GCA361491118PURAc.599A>G (p.Asp200Gly)
5g.140114780A>TCA361491119PURAc.599A>T (p.Asp200Val)
5g.140114781C>ACA361491120PURAc.600C>A (p.Asp200Glu)
5g.140114781C=CA1586595296PURAc.600C= (p.Asp200=)
5g.140114781C>GCA361491121PURAc.600C>G (p.Asp200Glu)
gnomAD v4
5g.140114781C>TCA3437484PURAc.600C>T (p.Asp200=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.140114782G>ACA361491122PURAc.601G>A (p.Ala201Thr)
5g.140114782G>CCA361491123PURAc.601G>C (p.Ala201Pro)
5g.140114782G>TCA361491124PURAc.601G>T (p.Ala201Ser)
5g.140114783C>ACA361491125PURAc.602C>A (p.Ala201Asp)
gnomAD v4
5g.140114783C>GCA361491126PURAc.602C>G (p.Ala201Gly)
5g.140114783C>TCA361491127PURAc.602C>T (p.Ala201Val)
5g.140114784T>ACA446831080PURAc.603T>A (p.Ala201=)
5g.140114784T>CCA446831079PURAc.603T>C (p.Ala201=)
ClinVar dbSNP gnomAD v2 gnomAD v4
5g.140114784T>GCA446831078PURAc.603T>G (p.Ala201=)
ClinVar dbSNP
5g.140114784T=CA1586595302PURAc.603T= (p.Ala201=)
5g.140114785C>ACA361491128PURAc.604C>A (p.Leu202Met)
5g.140114785C=CA1586595307PURAc.604C= (p.Leu202=)
5g.140114785C>GCA361491129PURAc.604C>G (p.Leu202Val)
5g.140114785C>TCA3437485PURAc.604C>T (p.Leu202=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.140114786T>ACA361491130PURAc.605T>A (p.Leu202Gln)
5g.140114786T>CCA361491131PURAc.605T>C (p.Leu202Pro)
ClinVar dbSNP
5g.140114786T>GCA361491132PURAc.605T>G (p.Leu202Arg)
5g.140114786T=CA1586595318PURAc.605T= (p.Leu202=)
5g.140114787G>ACA446831081PURAc.606G>A (p.Leu202=)
gnomAD v4
5g.140114787G>CCA446831082PURAc.606G>C (p.Leu202=)
5g.140114787G>TCA446831083PURAc.606G>T (p.Leu202=)
5g.140114788G>ACA361491133PURAc.607G>A (p.Ala203Thr)
5g.140114788G>CCA361491134PURAc.607G>C (p.Ala203Pro)
5g.140114788G>TCA361491135PURAc.607G>T (p.Ala203Ser)
5g.140114789C>ACA361491136PURAc.608C>A (p.Ala203Asp)
5g.140114789C>GCA361491137PURAc.608C>G (p.Ala203Gly)
5g.140114789C>TCA361491138PURAc.608C>T (p.Ala203Val)
ClinVar dbSNP gnomAD v4
5g.140114790C>ACA446831085PURAc.609C>A (p.Ala203=)
5g.140114790C>GCA446831088PURAc.609C>G (p.Ala203=)
gnomAD v4
5g.140114790C>TCA446831086PURAc.609C>T (p.Ala203=)
gnomAD v4
5g.140114791A>CCA361491139PURAc.610A>C (p.Lys204Gln)
5g.140114791A>GCA361491140PURAc.610A>G (p.Lys204Glu)
5g.140114791A>TCA361491141PURAc.610A>T (p.Lys204Ter)
5g.140114792A=CA1586595322PURAc.611A= (p.Lys204=)
5g.140114792A>CCA361491144PURAc.611A>C (p.Lys204Thr)
dbSNP
5g.140114792A>GCA361491142PURAc.611A>G (p.Lys204Arg)
5g.140114792A>TCA361491143PURAc.611A>T (p.Lys204Met)
dbSNP
5g.140114793G>ACA446831092PURAc.612G>A (p.Lys204=)
5g.140114793G>CCA361491145PURAc.612G>C (p.Lys204Asn)
5g.140114793G>TCA361491146PURAc.612G>T (p.Lys204Asn)
5g.140114794C>ACA361491147PURAc.613C>A (p.Leu205Ile)
5g.140114794C>GCA361491148PURAc.613C>G (p.Leu205Val)
5g.140114794C>TCA361491149PURAc.613C>T (p.Leu205Phe)
5g.140114794_140114797delinsCTCACA1586595325PURAc.613_616delinsCTCA (p.Leu205=)
5g.140114795T>ACA361491150PURAc.614T>A (p.Leu205His)
5g.140114795T>CCA361491151PURAc.614T>C (p.Leu205Pro)
ClinVar dbSNP
5g.140114795T>GCA361491152PURAc.614T>G (p.Leu205Arg)
5g.140114795T=CA1586595336PURAc.614T= (p.Leu205=)
5g.140114797_140114799delCA16618128PURAc.616_618del (p.Ile206del)
ClinVar dbSNP
5g.140114796C>ACA446831096PURAc.615C>A (p.Leu205=)
5g.140114796C=CA1586595347PURAc.615C= (p.Leu205=)
5g.140114796C>GCA446831098PURAc.615C>G (p.Leu205=)
5g.140114796C>TCA446831099PURAc.615C>T (p.Leu205=)
ClinVar dbSNP gnomAD v4
5g.140114797A=CA1586595352PURAc.616A= (p.Ile206=)
5g.140114797A>CCA361491153PURAc.616A>C (p.Ile206Leu)
5g.140114797A>GCA361491154PURAc.616A>G (p.Ile206Val)
5g.140114797A>TCA199216PURAc.616A>T (p.Ile206Phe)
ClinVar dbSNP
5g.140114798T>ACA361491157PURAc.617T>A (p.Ile206Asn)
5g.140114798T>CCA361491156PURAc.617T>C (p.Ile206Thr)
5g.140114798T>GCA361491155PURAc.617T>G (p.Ile206Ser)
5g.140114799C>ACA3437487PURAc.618C>A (p.Ile206=)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.140114799C=CA1586595363PURAc.618C= (p.Ile206=)
5g.140114799C>GCA361491158PURAc.618C>G (p.Ile206Met)
dbSNP
5g.140114799C>TCA3437486PURAc.618C>T (p.Ile206=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114799_140114806delinsCGACGACTCA1586595371PURAc.618_625delinsCGACGACT (p.Ile206=)
5g.140114800G>ACA361491159PURAc.619G>A (p.Asp207Asn)
gnomAD v4
5g.140114800G>CCA361491160PURAc.619G>C (p.Asp207His)
5g.140114800G>TCA361491161PURAc.619G>T (p.Asp207Tyr)
5g.140114800_140114806delCA891843401PURAc.619_625del (p.Asp207ThrfsTer16)
ClinVar dbSNP
5g.140114801A>CCA361491162PURAc.620A>C (p.Asp207Ala)
5g.140114801A>GCA361491163PURAc.620A>G (p.Asp207Gly)
5g.140114801A>TCA361491164PURAc.620A>T (p.Asp207Val)
5g.140114802C>ACA361491165PURAc.621C>A (p.Asp207Glu)
5g.140114802C=CA1586595387PURAc.621C= (p.Asp207=)
5g.140114802C>GCA361491166PURAc.621C>G (p.Asp207Glu)
5g.140114802C>TCA3437488PURAc.621C>T (p.Asp207=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.140114803G>ACA361491167PURAc.622G>A (p.Asp208Asn)
COSMIC
5g.140114803G>CCA361491168PURAc.622G>C (p.Asp208His)
5g.140114803G>TCA361491169PURAc.622G>T (p.Asp208Tyr)
5g.140114804A>CCA361491172PURAc.623A>C (p.Asp208Ala)
5g.140114804A>GCA361491170PURAc.623A>G (p.Asp208Gly)
5g.140114804A>TCA361491171PURAc.623A>T (p.Asp208Val)
5g.140114805C>ACA361491173PURAc.624C>A (p.Asp208Glu)
5g.140114805C>GCA361491174PURAc.624C>G (p.Asp208Glu)
5g.140114805C>TCA446831110PURAc.624C>T (p.Asp208=)
5g.140114806T>ACA361491175PURAc.625T>A (p.Tyr209Asn)
5g.140114806T>CCA361491176PURAc.625T>C (p.Tyr209His)
5g.140114806T>GCA361491177PURAc.625T>G (p.Tyr209Asp)
ClinVar
5g.140114807A=CA1586595389PURAc.626A= (p.Tyr209=)
5g.140114807A>CCA361491178PURAc.626A>C (p.Tyr209Ser)
5g.140114807A>GCA361491179PURAc.626A>G (p.Tyr209Cys)
5g.140114807A>TCA361491180PURAc.626A>T (p.Tyr209Phe)
ClinVar dbSNP
5g.140114808C>ACA361491181PURAc.627C>A (p.Tyr209Ter)
5g.140114808C=CA1586595393PURAc.627C= (p.Tyr209=)
5g.140114808C>GCA361491182PURAc.627C>G (p.Tyr209Ter)
ClinVar
5g.140114808C>TCA3437489PURAc.627C>T (p.Tyr209=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.140114809G>ACA361491185PURAc.628G>A (p.Gly210Arg)
dbSNP gnomAD v4
5g.140114809G>CCA361491184PURAc.628G>C (p.Gly210Arg)
5g.140114809G=CA1586595398PURAc.628G= (p.Gly210=)
5g.140114809G>TCA361491183PURAc.628G>T (p.Gly210Ter)
5g.140114810delCA2573139228PURAc.629del (p.Gly210GlufsTer15)
ClinVar dbSNP
5g.140114810G>ACA361491186PURAc.629G>A (p.Gly210Glu)
5g.140114810G>CCA361491187PURAc.629G>C (p.Gly210Ala)
5g.140114810G>TCA361491188PURAc.629G>T (p.Gly210Val)
5g.140114811A=CA1586595405PURAc.630A= (p.Gly210=)
5g.140114811A>CCA128789416PURAc.630A>C (p.Gly210=)
ClinVar dbSNP gnomAD v4
5g.140114811A>GCA446831120PURAc.630A>G (p.Gly210=)
5g.140114811A>TCA446831119PURAc.630A>T (p.Gly210=)
5g.140114812G>ACA361491189PURAc.631G>A (p.Val211Met)
gnomAD v4
5g.140114812G>CCA361491190PURAc.631G>C (p.Val211Leu)
5g.140114812G>TCA361491191PURAc.631G>T (p.Val211Leu)
5g.140114813T>ACA361491192PURAc.632T>A (p.Val211Glu)
5g.140114813T>CCA361491193PURAc.632T>C (p.Val211Ala)
5g.140114813T>GCA361491194PURAc.632T>G (p.Val211Gly)
dbSNP gnomAD v3 gnomAD v4
5g.140114813T=CA1586595417PURAc.632T= (p.Val211=)
5g.140114814G>ACA446831128PURAc.633G>A (p.Val211=)
5g.140114814G>CCA446831126PURAc.633G>C (p.Val211=)
5g.140114814G>TCA446831125PURAc.633G>T (p.Val211=)
5g.140114815G>ACA361491195PURAc.634G>A (p.Glu212Lys)
gnomAD v4
5g.140114815G>CCA361491196PURAc.634G>C (p.Glu212Gln)
ClinVar dbSNP COSMIC
5g.140114815G=CA1586595427PURAc.634G= (p.Glu212=)
5g.140114815G>TCA361491197PURAc.634G>T (p.Glu212Ter)
5g.140114816A>CCA361491200PURAc.635A>C (p.Glu212Ala)
5g.140114816A>GCA361491199PURAc.635A>G (p.Glu212Gly)
5g.140114816A>TCA361491198PURAc.635A>T (p.Glu212Val)
5g.140114817G>ACA446831129PURAc.636G>A (p.Glu212=)
5g.140114817G>CCA361491201PURAc.636G>C (p.Glu212Asp)
5g.140114817G>TCA361491202PURAc.636G>T (p.Glu212Asp)
5g.140114818G>ACA361491203PURAc.637G>A (p.Glu213Lys)
5g.140114818G>CCA361491204PURAc.637G>C (p.Glu213Gln)
5g.140114818G>TCA361491205PURAc.637G>T (p.Glu213Ter)
5g.140114819A=CA1586595443PURAc.638A= (p.Glu213=)
5g.140114819A>CCA361491206PURAc.638A>C (p.Glu213Ala)
COSMIC
5g.140114819A>GCA361491207PURAc.638A>G (p.Glu213Gly)
5g.140114819A>TCA361491208PURAc.638A>T (p.Glu213Val)
ClinVar dbSNP gnomAD v4
5g.140114820G>ACA446831134PURAc.639G>A (p.Glu213=)
5g.140114820G>CCA361491209PURAc.639G>C (p.Glu213Asp)
5g.140114820G=CA1586595450PURAc.639G= (p.Glu213=)
5g.140114820G>TCA361491210PURAc.639G>T (p.Glu213Asp)
5g.140114821G>ACA361491211PURAc.640G>A (p.Glu214Lys)
5g.140114821G>CCA361491212PURAc.640G>C (p.Glu214Gln)
dbSNP gnomAD v4
5g.140114821G=CA1586595463PURAc.640G= (p.Glu214=)
5g.140114821G>TCA361491213PURAc.640G>T (p.Glu214Ter)
ClinVar dbSNP
5g.140114822_140114826dupCA1139659104PURAc.641_645dup (p.Ala216SerfsTer11)
ClinVar dbSNP
5g.140114822A>CCA361491215PURAc.641A>C (p.Glu214Ala)
5g.140114822A>GCA361491216PURAc.641A>G (p.Glu214Gly)
5g.140114822A>TCA361491214PURAc.641A>T (p.Glu214Val)
5g.140114823G>ACA446831136PURAc.642G>A (p.Glu214=)
5g.140114823G>CCA361491217PURAc.642G>C (p.Glu214Asp)
5g.140114823G>TCA361491218PURAc.642G>T (p.Glu214Asp)
5g.140114824C>ACA361491219PURAc.643C>A (p.Pro215Thr)
5g.140114824C=CA1586595470PURAc.643C= (p.Pro215=)
5g.140114824C>GCA361491221PURAc.643C>G (p.Pro215Ala)
dbSNP gnomAD v2 gnomAD v4
5g.140114824C>TCA361491220PURAc.643C>T (p.Pro215Ser)
5g.140114825C>ACA361491222PURAc.644C>A (p.Pro215Gln)
gnomAD v4
5g.140114825C>GCA361491224PURAc.644C>G (p.Pro215Arg)
5g.140114825C>TCA361491223PURAc.644C>T (p.Pro215Leu)
5g.140114826G>ACA128789417PURAc.645G>A (p.Pro215=)
dbSNP
5g.140114826G>CCA446831138PURAc.645G>C (p.Pro215=)
gnomAD v4
5g.140114826G=CA1586595477PURAc.645G= (p.Pro215=)
5g.140114826G>TCA446831139PURAc.645G>T (p.Pro215=)
gnomAD v4
5g.140114827G>ACA361491225PURAc.646G>A (p.Ala216Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114827G>CCA361491227PURAc.646G>C (p.Ala216Pro)
5g.140114827G=CA1586595482PURAc.646G= (p.Ala216=)
5g.140114827G>TCA361491226PURAc.646G>T (p.Ala216Ser)
dbSNP gnomAD v2 gnomAD v4
5g.140114828_140114841delCA2499217693PURAc.647_660del (p.Ala216GlyfsTer?)
ClinVar dbSNP
5g.140114828C>ACA361491228PURAc.647C>A (p.Ala216Asp)
5g.140114828C>GCA361491230PURAc.647C>G (p.Ala216Gly)
5g.140114828C>TCA361491229PURAc.647C>T (p.Ala216Val)
5g.140114829C>ACA446831143PURAc.648C>A (p.Ala216=)
5g.140114829C=CA1586595495PURAc.648C= (p.Ala216=)
5g.140114829C>GCA446831144PURAc.648C>G (p.Ala216=)
dbSNP gnomAD v4
5g.140114829C>TCA3437490PURAc.648C>T (p.Ala216=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.140114830G>ACA361491231PURAc.649G>A (p.Glu217Lys)
gnomAD v4
5g.140114830G>CCA361491232PURAc.649G>C (p.Glu217Gln)
5g.140114830G>TCA361491233PURAc.649G>T (p.Glu217Ter)
5g.140114831A>CCA361491234PURAc.650A>C (p.Glu217Ala)
COSMIC
5g.140114831A>GCA361491235PURAc.650A>G (p.Glu217Gly)
5g.140114831A>TCA361491236PURAc.650A>T (p.Glu217Val)
5g.140114832G>ACA446831147PURAc.651G>A (p.Glu217=)
5g.140114832G>CCA361491237PURAc.651G>C (p.Glu217Asp)
5g.140114832G>TCA361491238PURAc.651G>T (p.Glu217Asp)
ClinVar gnomAD v4
5g.140114833C>ACA361491239PURAc.652C>A (p.Leu218Met)
5g.140114833C>GCA361491240PURAc.652C>G (p.Leu218Val)
5g.140114833C>TCA446831149PURAc.652C>T (p.Leu218=)
5g.140114834T>ACA361491243PURAc.653T>A (p.Leu218Gln)
dbSNP
5g.140114834T>CCA361491242PURAc.653T>C (p.Leu218Pro)
5g.140114834T>GCA361491241PURAc.653T>G (p.Leu218Arg)
5g.140114834T=CA1586595499PURAc.653T= (p.Leu218=)
5g.140114835G>ACA446831150PURAc.654G>A (p.Leu218=)
5g.140114835G>CCA446831151PURAc.654G>C (p.Leu218=)
5g.140114835G=CA1586595504PURAc.654G= (p.Leu218=)
5g.140114835G>TCA128789418PURAc.654G>T (p.Leu218=)
ClinVar dbSNP
5g.140114836C>ACA361491244PURAc.655C>A (p.Pro219Thr)
5g.140114836C>GCA361491245PURAc.655C>G (p.Pro219Ala)
5g.140114836C>TCA361491246PURAc.655C>T (p.Pro219Ser)
5g.140114838delCA2580072972PURAc.657del (p.Glu220ArgfsTer5)
ClinVar
5g.140114837C>ACA361491247PURAc.656C>A (p.Pro219His)
5g.140114837C>GCA361491248PURAc.656C>G (p.Pro219Arg)
5g.140114837C>TCA361491249PURAc.656C>T (p.Pro219Leu)
5g.140114838C>ACA446831154PURAc.657C>A (p.Pro219=)
gnomAD v4
5g.140114838C=CA1586595510PURAc.657C= (p.Pro219=)
5g.140114838C>GCA446831155PURAc.657C>G (p.Pro219=)
gnomAD v4
5g.140114838C>TCA446831156PURAc.657C>T (p.Pro219=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.140114839G>ACA361491250PURAc.658G>A (p.Glu220Lys)
ClinVar
5g.140114839G>CCA361491251PURAc.658G>C (p.Glu220Gln)
gnomAD v4
5g.140114839G>TCA361491252PURAc.658G>T (p.Glu220Ter)
5g.140114840A>CCA361491253PURAc.659A>C (p.Glu220Ala)
5g.140114840A>GCA361491254PURAc.659A>G (p.Glu220Gly)
5g.140114840A>TCA361491255PURAc.659A>T (p.Glu220Val)
5g.140114841G>ACA446831158PURAc.660G>A (p.Glu220=)
5g.140114841G>CCA361491256PURAc.660G>C (p.Glu220Asp)
gnomAD v4
5g.140114841G>TCA361491257PURAc.660G>T (p.Glu220Asp)
5g.140114842G>ACA361491258PURAc.661G>A (p.Gly221Ser)
5g.140114842G>CCA361491259PURAc.661G>C (p.Gly221Arg)
5g.140114842G>TCA361491260PURAc.661G>T (p.Gly221Cys)
5g.140114843G>ACA361491261PURAc.662G>A (p.Gly221Asp)
5g.140114843G>CCA361491262PURAc.662G>C (p.Gly221Ala)
5g.140114843G>TCA361491263PURAc.662G>T (p.Gly221Val)
5g.140114844C>ACA446831160PURAc.663C>A (p.Gly221=)
5g.140114844C=CA1586595517PURAc.663C= (p.Gly221=)
5g.140114844C>GCA446831161PURAc.663C>G (p.Gly221=)
5g.140114844C>TCA446831162PURAc.663C>T (p.Gly221=)
dbSNP gnomAD v2 gnomAD v4
5g.140114845A>CCA361491264PURAc.664A>C (p.Thr222Pro)
5g.140114845A>GCA361491265PURAc.664A>G (p.Thr222Ala)
5g.140114845A>TCA361491266PURAc.664A>T (p.Thr222Ser)
gnomAD v4
5g.140114846C>ACA361491267PURAc.665C>A (p.Thr222Asn)
5g.140114846C>GCA361491268PURAc.665C>G (p.Thr222Ser)
5g.140114846C>TCA361491269PURAc.665C>T (p.Thr222Ile)
5g.140114847C>ACA446831168PURAc.666C>A (p.Thr222=)
5g.140114847C>GCA446831167PURAc.666C>G (p.Thr222=)
5g.140114847C>TCA446831166PURAc.666C>T (p.Thr222=)
ClinVar
5g.140114848T>ACA361491272PURAc.667T>A (p.Ser223Thr)
5g.140114848T>CCA361491270PURAc.667T>C (p.Ser223Pro)
5g.140114848T>GCA361491271PURAc.667T>G (p.Ser223Ala)
COSMIC
5g.140114849C>ACA361491273PURAc.668C>A (p.Ser223Tyr)
5g.140114849C=CA1586595524PURAc.668C= (p.Ser223=)
5g.140114849C>GCA3437491PURAc.668C>G (p.Ser223Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.140114849C>TCA361491274PURAc.668C>T (p.Ser223Phe)
dbSNP gnomAD v2 gnomAD v4
5g.140114850C>ACA446831170PURAc.669C>A (p.Ser223=)
5g.140114850C=CA1586595531PURAc.669C= (p.Ser223=)
5g.140114850C>GCA446831171PURAc.669C>G (p.Ser223=)
5g.140114850C>TCA3437492PURAc.669C>T (p.Ser223=)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
5g.140114851T>ACA361491275PURAc.670T>A (p.Leu224Met)
5g.140114851T>CCA446831172PURAc.670T>C (p.Leu224=)
5g.140114851T>GCA361491276PURAc.670T>G (p.Leu224Val)
5g.140114852delCA2739275109PURAc.671del (p.Leu224Ter)
ClinVar
5g.140114852T>ACA361491277PURAc.671T>A (p.Leu224Ter)
5g.140114852T>CCA361491278PURAc.671T>C (p.Leu224Ser)
5g.140114852T>GCA361491279PURAc.671T>G (p.Leu224Trp)
5g.140114853G>ACA446831174PURAc.672G>A (p.Leu224=)
dbSNP gnomAD v3 gnomAD v4
5g.140114853G>CCA361491280PURAc.672G>C (p.Leu224Phe)
ClinVar dbSNP
5g.140114853G=CA1586595539PURAc.672G= (p.Leu224=)
5g.140114853G>TCA361491281PURAc.672G>T (p.Leu224Phe)
5g.140114854A>CCA361491284PURAc.673A>C (p.Thr225Pro)
5g.140114854A>GCA361491283PURAc.673A>G (p.Thr225Ala)
5g.140114854A>TCA361491282PURAc.673A>T (p.Thr225Ser)
5g.140114855C>ACA361491285PURAc.674C>A (p.Thr225Asn)
5g.140114855C=CA1586595549PURAc.674C= (p.Thr225=)
5g.140114855C>GCA361491287PURAc.674C>G (p.Thr225Ser)
5g.140114855C>TCA361491286PURAc.674C>T (p.Thr225Ile)
ClinVar dbSNP gnomAD v4
5g.140114855_140114857delinsCTGCA1586595546PURAc.674_676delinsCTG (p.Thr225=)
5g.140114855_140114856insACA2739289803PURAc.674_675insA (p.Val226CysfsTer?)
5g.140114856T>ACA446831176PURAc.675T>A (p.Thr225=)
5g.140114856T>CCA446831178PURAc.675T>C (p.Thr225=)
dbSNP gnomAD v2 gnomAD v4
5g.140114856T>GCA446831179PURAc.675T>G (p.Thr225=)
5g.140114856T=CA1586595564PURAc.675T= (p.Thr225=)
5g.140114858_140114859delCA16618129PURAc.677_678del (p.Val226GlyfsTer?)
ClinVar dbSNP
5g.140114856_140114857insACA2695205335PURAc.675_676insA (p.Val226SerfsTer?)
5g.140114857G>ACA361491288PURAc.676G>A (p.Val226Met)
5g.140114857G>CCA361491289PURAc.676G>C (p.Val226Leu)
5g.140114857G>TCA361491290PURAc.676G>T (p.Val226Leu)
5g.140114858T>ACA361491291PURAc.677T>A (p.Val226Glu)
5g.140114858T>CCA361491292PURAc.677T>C (p.Val226Ala)
5g.140114858T>GCA361491293PURAc.677T>G (p.Val226Gly)
5g.140114858T=CA1586595569PURAc.677T= (p.Val226=)
5g.140114859G>ACA446831184PURAc.678G>A (p.Val226=)
dbSNP gnomAD v2 gnomAD v4
5g.140114859G>CCA446831185PURAc.678G>C (p.Val226=)
5g.140114859G=CA1586595576PURAc.678G= (p.Val226=)
5g.140114859G>TCA446831186PURAc.678G>T (p.Val226=)
5g.140114862_140114863insTGAGGACCA1139659105PURAc.681_682insTGAGGAC (p.Asn228Ter)
ClinVar dbSNP

Number of alleles fetched