Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.27232046G>ACA346211347CADc.2467G>A (p.Val823Met)
c.2278G>A (p.Val760Met)
n.215G>A
c.193G>A (p.Val65Met)
 ClinVar dbSNP
2g.27232046G>CCA346211348CADc.2467G>C (p.Val823Leu)
c.2278G>C (p.Val760Leu)
n.215G>C
c.193G>C (p.Val65Leu)
 gnomAD v4 COSMIC
2g.27232046G=CA1240180267CADc.2467G= (p.Val823=)
c.2278G= (p.Val760=)
n.215G=
c.193G= (p.Val65=)
2g.27232046G>TCA346211349CADc.2467G>T (p.Val823Leu)
c.2278G>T (p.Val760Leu)
n.215G>T
c.193G>T (p.Val65Leu)
2g.27232047T>ACA1573027CADc.2468T>A (p.Val823Glu)
c.2279T>A (p.Val760Glu)
n.216T>A
c.194T>A (p.Val65Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232047T>CCA346211353CADc.2468T>C (p.Val823Ala)
c.2279T>C (p.Val760Ala)
n.216T>C
c.194T>C (p.Val65Ala)
 ClinVar dbSNP gnomAD v4
2g.27232047T>GCA346211352CADc.2468T>G (p.Val823Gly)
c.2279T>G (p.Val760Gly)
n.216T>G
c.194T>G (p.Val65Gly)
2g.27232047T=CA1240180268CADc.2468T= (p.Val823=)
c.2279T= (p.Val760=)
n.216T=
c.194T= (p.Val65=)
2g.27232048G>ACA425384828CADc.2469G>A (p.Val823=)
c.2280G>A (p.Val760=)
n.217G>A
c.195G>A (p.Val65=)
2g.27232048G>CCA425384830CADc.2469G>C (p.Val823=)
c.2280G>C (p.Val760=)
n.217G>C
c.195G>C (p.Val65=)
2g.27232048G>TCA425384829CADc.2469G>T (p.Val823=)
c.2280G>T (p.Val760=)
n.217G>T
c.195G>T (p.Val65=)
2g.27232049G>ACA346211355CADc.2470G>A (p.Asp824Asn)
c.2281G>A (p.Asp761Asn)
n.218G>A
c.196G>A (p.Asp66Asn)
2g.27232049G>CCA346211356CADc.2470G>C (p.Asp824His)
c.2281G>C (p.Asp761His)
n.218G>C
c.196G>C (p.Asp66His)
2g.27232049G>TCA346211358CADc.2470G>T (p.Asp824Tyr)
c.2281G>T (p.Asp761Tyr)
n.218G>T
c.196G>T (p.Asp66Tyr)
2g.27232050A=CA1240180269CADc.2471A= (p.Asp824=)
c.2282A= (p.Asp761=)
n.219A=
c.197A= (p.Asp66=)
2g.27232050A>CCA346211360CADc.2471A>C (p.Asp824Ala)
c.2282A>C (p.Asp761Ala)
n.219A>C
c.197A>C (p.Asp66Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.27232050A>GCA1573028CADc.2471A>G (p.Asp824Gly)
c.2282A>G (p.Asp761Gly)
n.219A>G
c.197A>G (p.Asp66Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232050A>TCA346211362CADc.2471A>T (p.Asp824Val)
c.2282A>T (p.Asp761Val)
n.219A>T
c.197A>T (p.Asp66Val)
2g.27232050_27232052delCA2658308555CADc.2471_2473del (p.Asp824_Arg825delinsGly)
c.2282_2284del (p.Asp761_Arg762delinsGly)
n.219_221del
c.197_199del (p.Asp66_Arg67delinsGly)
 gnomAD v4
2g.27232051C>ACA346211365CADc.2472C>A (p.Asp824Glu)
c.2283C>A (p.Asp761Glu)
n.220C>A
c.198C>A (p.Asp66Glu)
2g.27232051C=CA1240180270CADc.2472C= (p.Asp824=)
c.2283C= (p.Asp761=)
n.220C=
c.198C= (p.Asp66=)
2g.27232051C>GCA346211366CADc.2472C>G (p.Asp824Glu)
c.2283C>G (p.Asp761Glu)
n.220C>G
c.198C>G (p.Asp66Glu)
2g.27232051C>TCA425384831CADc.2472C>T (p.Asp824=)
c.2283C>T (p.Asp761=)
n.220C>T
c.198C>T (p.Asp66=)
 dbSNP gnomAD v2 gnomAD v4
2g.27232052C>ACA346211367CADc.2473C>A (p.Arg825Ser)
c.2284C>A (p.Arg762Ser)
n.221C>A
c.199C>A (p.Arg67Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.27232052C=CA1240180271CADc.2473C= (p.Arg825=)
c.2284C= (p.Arg762=)
n.221C=
c.199C= (p.Arg67=)
2g.27232052C>GCA346211369CADc.2473C>G (p.Arg825Gly)
c.2284C>G (p.Arg762Gly)
n.221C>G
c.199C>G (p.Arg67Gly)
2g.27232052C>TCA44507083CADc.2473C>T (p.Arg825Cys)
c.2284C>T (p.Arg762Cys)
n.221C>T
c.199C>T (p.Arg67Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232053G>ACA1573029CADc.2474G>A (p.Arg825His)
c.2285G>A (p.Arg762His)
n.222G>A
c.200G>A (p.Arg67His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232053G>CCA346211372CADc.2474G>C (p.Arg825Pro)
c.2285G>C (p.Arg762Pro)
n.222G>C
c.200G>C (p.Arg67Pro)
2g.27232053G=CA1240180272CADc.2474G= (p.Arg825=)
c.2285G= (p.Arg762=)
n.222G=
c.200G= (p.Arg67=)
2g.27232053G>TCA346211374CADc.2474G>T (p.Arg825Leu)
c.2285G>T (p.Arg762Leu)
n.222G>T
c.200G>T (p.Arg67Leu)
 gnomAD v4
2g.27232054C>ACA425384832CADc.2475C>A (p.Arg825=)
c.2286C>A (p.Arg762=)
n.223C>A
c.201C>A (p.Arg67=)
2g.27232054C>GCA425384834CADc.2475C>G (p.Arg825=)
c.2286C>G (p.Arg762=)
n.223C>G
c.201C>G (p.Arg67=)
2g.27232054C>TCA425384833CADc.2475C>T (p.Arg825=)
c.2286C>T (p.Arg762=)
n.223C>T
c.201C>T (p.Arg67=)
 gnomAD v4
2g.27232055C>ACA346211376CADc.2476C>A (p.Leu826Met)
c.2287C>A (p.Leu763Met)
n.224C>A
c.202C>A (p.Leu68Met)
 dbSNP
2g.27232055C=CA1240180273CADc.2476C= (p.Leu826=)
c.2287C= (p.Leu763=)
n.224C=
c.202C= (p.Leu68=)
2g.27232055C>GCA346211377CADc.2476C>G (p.Leu826Val)
c.2287C>G (p.Leu763Val)
n.224C>G
c.202C>G (p.Leu68Val)
2g.27232055C>TCA425384835CADc.2476C>T (p.Leu826=)
c.2287C>T (p.Leu763=)
n.224C>T
c.202C>T (p.Leu68=)
2g.27232056T>ACA346211380CADc.2477T>A (p.Leu826Gln)
c.2288T>A (p.Leu763Gln)
n.225T>A
c.203T>A (p.Leu68Gln)
2g.27232056T>CCA346211381CADc.2477T>C (p.Leu826Pro)
c.2288T>C (p.Leu763Pro)
n.225T>C
c.203T>C (p.Leu68Pro)
2g.27232056T>GCA346211383CADc.2477T>G (p.Leu826Arg)
c.2288T>G (p.Leu763Arg)
n.225T>G
c.203T>G (p.Leu68Arg)
2g.27232057G>ACA425384836CADc.2478G>A (p.Leu826=)
c.2289G>A (p.Leu763=)
n.226G>A
c.204G>A (p.Leu68=)
 dbSNP gnomAD v4
2g.27232057G>CCA425384837CADc.2478G>C (p.Leu826=)
c.2289G>C (p.Leu763=)
n.226G>C
c.204G>C (p.Leu68=)
2g.27232057G=CA1240180274CADc.2478G= (p.Leu826=)
c.2289G= (p.Leu763=)
n.226G=
c.204G= (p.Leu68=)
2g.27232057G>TCA425384838CADc.2478G>T (p.Leu826=)
c.2289G>T (p.Leu763=)
n.226G>T
c.204G>T (p.Leu68=)
2g.27232058T>ACA346211384CADc.2479T>A (p.Tyr827Asn)
c.2290T>A (p.Tyr764Asn)
n.227T>A
c.205T>A (p.Tyr69Asn)
2g.27232058T>CCA346211385CADc.2479T>C (p.Tyr827His)
c.2290T>C (p.Tyr764His)
n.227T>C
c.205T>C (p.Tyr69His)
2g.27232058T>GCA346211388CADc.2479T>G (p.Tyr827Asp)
c.2290T>G (p.Tyr764Asp)
n.227T>G
c.205T>G (p.Tyr69Asp)
2g.27232059A>CCA346211390CADc.2480A>C (p.Tyr827Ser)
c.2291A>C (p.Tyr764Ser)
n.228A>C
c.206A>C (p.Tyr69Ser)
2g.27232059A>GCA346211391CADc.2480A>G (p.Tyr827Cys)
c.2291A>G (p.Tyr764Cys)
n.228A>G
c.206A>G (p.Tyr69Cys)
2g.27232059A>TCA346211393CADc.2480A>T (p.Tyr827Phe)
c.2291A>T (p.Tyr764Phe)
n.228A>T
c.206A>T (p.Tyr69Phe)
2g.27232060T>ACA346211395CADc.2481T>A (p.Tyr827Ter)
c.2292T>A (p.Tyr764Ter)
n.229T>A
c.207T>A (p.Tyr69Ter)
2g.27232060T>CCA425384839CADc.2481T>C (p.Tyr827=)
c.2292T>C (p.Tyr764=)
n.229T>C
c.207T>C (p.Tyr69=)
2g.27232060T>GCA346211397CADc.2481T>G (p.Tyr827Ter)
c.2292T>G (p.Tyr764Ter)
n.229T>G
c.207T>G (p.Tyr69Ter)
2g.27232061G>ACA346211401CADc.2482G>A (p.Glu828Lys)
c.2293G>A (p.Glu765Lys)
n.230G>A
c.208G>A (p.Glu70Lys)
2g.27232061G>CCA1573030CADc.2482G>C (p.Glu828Gln)
c.2293G>C (p.Glu765Gln)
n.230G>C
c.208G>C (p.Glu70Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232061G=CA1240180275CADc.2482G= (p.Glu828=)
c.2293G= (p.Glu765=)
n.230G=
c.208G= (p.Glu70=)
2g.27232061G>TCA346211399CADc.2482G>T (p.Glu828Ter)
c.2293G>T (p.Glu765Ter)
n.230G>T
c.208G>T (p.Glu70Ter)
2g.27232062A>CCA346211403CADc.2483A>C (p.Glu828Ala)
c.2294A>C (p.Glu765Ala)
n.231A>C
c.209A>C (p.Glu70Ala)
2g.27232062A>GCA346211404CADc.2483A>G (p.Glu828Gly)
c.2294A>G (p.Glu765Gly)
n.231A>G
c.209A>G (p.Glu70Gly)
2g.27232062A>TCA346211405CADc.2483A>T (p.Glu828Val)
c.2294A>T (p.Glu765Val)
n.231A>T
c.209A>T (p.Glu70Val)
2g.27232063G>ACA425384840CADc.2484G>A (p.Glu828=)
c.2295G>A (p.Glu765=)
n.232G>A
c.210G>A (p.Glu70=)
2g.27232063G>CCA346211407CADc.2484G>C (p.Glu828Asp)
c.2295G>C (p.Glu765Asp)
n.232G>C
c.210G>C (p.Glu70Asp)
2g.27232063G>TCA346211409CADc.2484G>T (p.Glu828Asp)
c.2295G>T (p.Glu765Asp)
n.232G>T
c.210G>T (p.Glu70Asp)
2g.27232064C>ACA346211411CADc.2485C>A (p.Leu829Ile)
c.2296C>A (p.Leu766Ile)
n.233C>A
c.211C>A (p.Leu71Ile)
 gnomAD v4
2g.27232064C=CA1240180276CADc.2485C= (p.Leu829=)
c.2296C= (p.Leu766=)
n.233C=
c.211C= (p.Leu71=)
2g.27232064C>GCA346211412CADc.2485C>G (p.Leu829Val)
c.2296C>G (p.Leu766Val)
n.233C>G
c.211C>G (p.Leu71Val)
2g.27232064C>TCA346211414CADc.2485C>T (p.Leu829Phe)
c.2296C>T (p.Leu766Phe)
n.233C>T
c.211C>T (p.Leu71Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232065T>ACA346211416CADc.2486T>A (p.Leu829His)
c.2297T>A (p.Leu766His)
n.234T>A
c.212T>A (p.Leu71His)
2g.27232065T>CCA346211418CADc.2486T>C (p.Leu829Pro)
c.2297T>C (p.Leu766Pro)
n.234T>C
c.212T>C (p.Leu71Pro)
2g.27232065T>GCA346211419CADc.2486T>G (p.Leu829Arg)
c.2297T>G (p.Leu766Arg)
n.234T>G
c.212T>G (p.Leu71Arg)
2g.27232066C>ACA425384841CADc.2487C>A (p.Leu829=)
c.2298C>A (p.Leu766=)
n.235C>A
c.213C>A (p.Leu71=)
2g.27232066C>GCA425384842CADc.2487C>G (p.Leu829=)
c.2298C>G (p.Leu766=)
n.235C>G
c.213C>G (p.Leu71=)
2g.27232066C>TCA425384843CADc.2487C>T (p.Leu829=)
c.2298C>T (p.Leu766=)
n.235C>T
c.213C>T (p.Leu71=)
2g.27232067A>CCA346211420CADc.2488A>C (p.Thr830Pro)
c.2299A>C (p.Thr767Pro)
n.236A>C
c.214A>C (p.Thr72Pro)
2g.27232067A>GCA346211422CADc.2488A>G (p.Thr830Ala)
c.2299A>G (p.Thr767Ala)
n.236A>G
c.214A>G (p.Thr72Ala)
2g.27232067A>TCA346211426CADc.2488A>T (p.Thr830Ser)
c.2299A>T (p.Thr767Ser)
n.236A>T
c.214A>T (p.Thr72Ser)
2g.27232068C>ACA346211431CADc.2489C>A (p.Thr830Lys)
c.2300C>A (p.Thr767Lys)
n.237C>A
c.215C>A (p.Thr72Lys)
2g.27232068C>GCA346211429CADc.2489C>G (p.Thr830Arg)
c.2300C>G (p.Thr767Arg)
n.237C>G
c.215C>G (p.Thr72Arg)
2g.27232068C>TCA346211428CADc.2489C>T (p.Thr830Ile)
c.2300C>T (p.Thr767Ile)
n.237C>T
c.215C>T (p.Thr72Ile)
2g.27232069A>CCA425384844CADc.2490A>C (p.Thr830=)
c.2301A>C (p.Thr767=)
n.238A>C
c.216A>C (p.Thr72=)
2g.27232069A>GCA425384845CADc.2490A>G (p.Thr830=)
c.2301A>G (p.Thr767=)
n.238A>G
c.216A>G (p.Thr72=)
2g.27232069A>TCA425384846CADc.2490A>T (p.Thr830=)
c.2301A>T (p.Thr767=)
n.238A>T
c.216A>T (p.Thr72=)
2g.27232070C>ACA346211432CADc.2491C>A (p.Arg831Ser)
c.2302C>A (p.Arg768Ser)
n.239C>A
c.217C>A (p.Arg73Ser)
 gnomAD v4
2g.27232070C>GCA346211434CADc.2491C>G (p.Arg831Gly)
c.2302C>G (p.Arg768Gly)
n.239C>G
c.217C>G (p.Arg73Gly)
2g.27232070C>TCA346211436CADc.2491C>T (p.Arg831Cys)
c.2302C>T (p.Arg768Cys)
n.239C>T
c.217C>T (p.Arg73Cys)
 ClinVar dbSNP
2g.27232071G>ACA1573031CADc.2492G>A (p.Arg831His)
c.2303G>A (p.Arg768His)
n.240G>A
c.218G>A (p.Arg73His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232071G>CCA346211438CADc.2492G>C (p.Arg831Pro)
c.2303G>C (p.Arg768Pro)
n.240G>C
c.218G>C (p.Arg73Pro)
2g.27232071G=CA1240180277CADc.2492G= (p.Arg831=)
c.2303G= (p.Arg768=)
n.240G=
c.218G= (p.Arg73=)
2g.27232071G>TCA346211439CADc.2492G>T (p.Arg831Leu)
c.2303G>T (p.Arg768Leu)
n.240G>T
c.218G>T (p.Arg73Leu)
2g.27232072C>ACA425384847CADc.2493C>A (p.Arg831=)
c.2304C>A (p.Arg768=)
n.241C>A
c.219C>A (p.Arg73=)
2g.27232072C>GCA425384848CADc.2493C>G (p.Arg831=)
c.2304C>G (p.Arg768=)
n.241C>G
c.219C>G (p.Arg73=)
2g.27232072C>TCA425384849CADc.2493C>T (p.Arg831=)
c.2304C>T (p.Arg768=)
n.241C>T
c.219C>T (p.Arg73=)
2g.27232073A=CA1240180278CADc.2494A= (p.Ile832=)
c.2305A= (p.Ile769=)
n.242A=
c.220A= (p.Ile74=)
2g.27232073A>CCA346211444CADc.2494A>C (p.Ile832Leu)
c.2305A>C (p.Ile769Leu)
n.242A>C
c.220A>C (p.Ile74Leu)
 dbSNP gnomAD v4
2g.27232073A>GCA346211441CADc.2494A>G (p.Ile832Val)
c.2305A>G (p.Ile769Val)
n.242A>G
c.220A>G (p.Ile74Val)
 dbSNP gnomAD v3 gnomAD v4
2g.27232073A>TCA346211443CADc.2494A>T (p.Ile832Phe)
c.2305A>T (p.Ile769Phe)
n.242A>T
c.220A>T (p.Ile74Phe)
2g.27232074T>ACA346211446CADc.2495T>A (p.Ile832Asn)
c.2306T>A (p.Ile769Asn)
n.243T>A
c.221T>A (p.Ile74Asn)
2g.27232074T>CCA346211447CADc.2495T>C (p.Ile832Thr)
c.2306T>C (p.Ile769Thr)
n.243T>C
c.221T>C (p.Ile74Thr)
2g.27232074T>GCA346211448CADc.2495T>G (p.Ile832Ser)
c.2306T>G (p.Ile769Ser)
n.243T>G
c.221T>G (p.Ile74Ser)
2g.27232075C>ACA425384850CADc.2496C>A (p.Ile832=)
c.2307C>A (p.Ile769=)
n.244C>A
c.222C>A (p.Ile74=)
2g.27232075C=CA1240180279CADc.2496C= (p.Ile832=)
c.2307C= (p.Ile769=)
n.244C=
c.222C= (p.Ile74=)
2g.27232075C>GCA346211449CADc.2496C>G (p.Ile832Met)
c.2307C>G (p.Ile769Met)
n.244C>G
c.222C>G (p.Ile74Met)
2g.27232075C>TCA1573032CADc.2496C>T (p.Ile832=)
c.2307C>T (p.Ile769=)
n.244C>T
c.222C>T (p.Ile74=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232076G>ACA1573033CADc.2497G>A (p.Asp833Asn)
c.2308G>A (p.Asp770Asn)
n.245G>A
c.223G>A (p.Asp75Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232076G>CCA346211453CADc.2497G>C (p.Asp833His)
c.2308G>C (p.Asp770His)
n.245G>C
c.223G>C (p.Asp75His)
2g.27232076G=CA1240180280CADc.2497G= (p.Asp833=)
c.2308G= (p.Asp770=)
n.245G=
c.223G= (p.Asp75=)
2g.27232076G>TCA346211452CADc.2497G>T (p.Asp833Tyr)
c.2308G>T (p.Asp770Tyr)
n.245G>T
c.223G>T (p.Asp75Tyr)
2g.27232077A>CCA346211455CADc.2498A>C (p.Asp833Ala)
c.2309A>C (p.Asp770Ala)
n.246A>C
c.224A>C (p.Asp75Ala)
2g.27232077A>GCA346211457CADc.2498A>G (p.Asp833Gly)
c.2309A>G (p.Asp770Gly)
n.246A>G
c.224A>G (p.Asp75Gly)
 gnomAD v4
2g.27232077A>TCA346211459CADc.2498A>T (p.Asp833Val)
c.2309A>T (p.Asp770Val)
n.246A>T
c.224A>T (p.Asp75Val)
2g.27232078C>ACA346211461CADc.2499C>A (p.Asp833Glu)
c.2310C>A (p.Asp770Glu)
n.247C>A
c.225C>A (p.Asp75Glu)
2g.27232078C>GCA346211463CADc.2499C>G (p.Asp833Glu)
c.2310C>G (p.Asp770Glu)
n.247C>G
c.225C>G (p.Asp75Glu)
2g.27232078C>TCA425384851CADc.2499C>T (p.Asp833=)
c.2310C>T (p.Asp770=)
n.247C>T
c.225C>T (p.Asp75=)
2g.27232079C>ACA346211464CADc.2500C>A (p.Arg834Ser)
c.2311C>A (p.Arg771Ser)
n.248C>A
c.226C>A (p.Arg76Ser)
2g.27232079C=CA1240180281CADc.2500C= (p.Arg834=)
c.2311C= (p.Arg771=)
n.248C=
c.226C= (p.Arg76=)
2g.27232079C>GCA346211465CADc.2500C>G (p.Arg834Gly)
c.2311C>G (p.Arg771Gly)
n.248C>G
c.226C>G (p.Arg76Gly)
2g.27232079C>TCA1573034CADc.2500C>T (p.Arg834Cys)
c.2311C>T (p.Arg771Cys)
n.248C>T
c.226C>T (p.Arg76Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232080G>ACA1573035CADc.2501G>A (p.Arg834His)
c.2312G>A (p.Arg771His)
n.249G>A
c.227G>A (p.Arg76His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232080G>CCA346211469CADc.2501G>C (p.Arg834Pro)
c.2312G>C (p.Arg771Pro)
n.249G>C
c.227G>C (p.Arg76Pro)
2g.27232080G=CA1240180282CADc.2501G= (p.Arg834=)
c.2312G= (p.Arg771=)
n.249G=
c.227G= (p.Arg76=)
2g.27232080G>TCA346211470CADc.2501G>T (p.Arg834Leu)
c.2312G>T (p.Arg771Leu)
n.249G>T
c.227G>T (p.Arg76Leu)
 dbSNP gnomAD v4 COSMIC
2g.27232081C>ACA425384852CADc.2502C>A (p.Arg834=)
c.2313C>A (p.Arg771=)
n.250C>A
c.228C>A (p.Arg76=)
2g.27232081C>GCA425384853CADc.2502C>G (p.Arg834=)
c.2313C>G (p.Arg771=)
n.250C>G
c.228C>G (p.Arg76=)
2g.27232081C>TCA425384854CADc.2502C>T (p.Arg834=)
c.2313C>T (p.Arg771=)
n.250C>T
c.228C>T (p.Arg76=)
2g.27232082T>ACA346211472CADc.2503T>A (p.Trp835Arg)
c.2314T>A (p.Trp772Arg)
n.251T>A
c.229T>A (p.Trp77Arg)
2g.27232082T>CCA346211475CADc.2503T>C (p.Trp835Arg)
c.2314T>C (p.Trp772Arg)
n.251T>C
c.229T>C (p.Trp77Arg)
2g.27232082T>GCA346211474CADc.2503T>G (p.Trp835Gly)
c.2314T>G (p.Trp772Gly)
n.251T>G
c.229T>G (p.Trp77Gly)
2g.27232082dupCA2698928835CADc.2503dup (p.Trp835LeufsTer?)
c.2314dup (p.Trp772LeufsTer?)
n.251dup
c.229dup (p.Trp77LeufsTer?)
 dbSNP
2g.27232083G>ACA346211477CADc.2504G>A (p.Trp835Ter)
c.2315G>A (p.Trp772Ter)
n.252G>A
c.230G>A (p.Trp77Ter)
2g.27232083G>CCA346211480CADc.2504G>C (p.Trp835Ser)
c.2315G>C (p.Trp772Ser)
n.252G>C
c.230G>C (p.Trp77Ser)
2g.27232083G>TCA346211478CADc.2504G>T (p.Trp835Leu)
c.2315G>T (p.Trp772Leu)
n.252G>T
c.230G>T (p.Trp77Leu)
2g.27232084G>ACA346211482CADc.2505G>A (p.Trp835Ter)
c.2316G>A (p.Trp772Ter)
n.253G>A
c.231G>A (p.Trp77Ter)
2g.27232084G>CCA346211483CADc.2505G>C (p.Trp835Cys)
c.2316G>C (p.Trp772Cys)
n.253G>C
c.231G>C (p.Trp77Cys)
2g.27232084G>TCA346211485CADc.2505G>T (p.Trp835Cys)
c.2316G>T (p.Trp772Cys)
n.253G>T
c.231G>T (p.Trp77Cys)
2g.27232085T>ACA346211487CADc.2506T>A (p.Phe836Ile)
c.2317T>A (p.Phe773Ile)
n.254T>A
c.232T>A (p.Phe78Ile)
2g.27232085T>CCA346211489CADc.2506T>C (p.Phe836Leu)
c.2317T>C (p.Phe773Leu)
n.254T>C
c.232T>C (p.Phe78Leu)
2g.27232085T>GCA346211490CADc.2506T>G (p.Phe836Val)
c.2317T>G (p.Phe773Val)
n.254T>G
c.232T>G (p.Phe78Val)
2g.27232086T>ACA346211492CADc.2507T>A (p.Phe836Tyr)
c.2318T>A (p.Phe773Tyr)
n.255T>A
c.233T>A (p.Phe78Tyr)
2g.27232086T>CCA346211494CADc.2507T>C (p.Phe836Ser)
c.2318T>C (p.Phe773Ser)
n.255T>C
c.233T>C (p.Phe78Ser)
2g.27232086T>GCA346211496CADc.2507T>G (p.Phe836Cys)
c.2318T>G (p.Phe773Cys)
n.255T>G
c.233T>G (p.Phe78Cys)
2g.27232087C>ACA346211497CADc.2508C>A (p.Phe836Leu)
c.2319C>A (p.Phe773Leu)
n.256C>A
c.234C>A (p.Phe78Leu)
2g.27232087C=CA1240180283CADc.2508C= (p.Phe836=)
c.2319C= (p.Phe773=)
n.256C=
c.234C= (p.Phe78=)
2g.27232087C>GCA346211498CADc.2508C>G (p.Phe836Leu)
c.2319C>G (p.Phe773Leu)
n.256C>G
c.234C>G (p.Phe78Leu)
 dbSNP
2g.27232087C>TCA425384855CADc.2508C>T (p.Phe836=)
c.2319C>T (p.Phe773=)
n.256C>T
c.234C>T (p.Phe78=)
 ClinVar
2g.27232088C>ACA346211500CADc.2509C>A (p.Leu837Met)
c.2320C>A (p.Leu774Met)
n.257C>A
c.235C>A (p.Leu79Met)
2g.27232088C=CA1240180284CADc.2509C= (p.Leu837=)
c.2320C= (p.Leu774=)
n.257C=
c.235C= (p.Leu79=)
2g.27232088C>GCA346211502CADc.2509C>G (p.Leu837Val)
c.2320C>G (p.Leu774Val)
n.257C>G
c.235C>G (p.Leu79Val)
 ClinVar
2g.27232088C>TCA44507174CADc.2509C>T (p.Leu837=)
c.2320C>T (p.Leu774=)
n.257C>T
c.235C>T (p.Leu79=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.27232089T>ACA346211503CADc.2510T>A (p.Leu837Gln)
c.2321T>A (p.Leu774Gln)
n.258T>A
c.236T>A (p.Leu79Gln)
2g.27232089T>CCA346211505CADc.2510T>C (p.Leu837Pro)
c.2321T>C (p.Leu774Pro)
n.258T>C
c.236T>C (p.Leu79Pro)
2g.27232089T>GCA346211504CADc.2510T>G (p.Leu837Arg)
c.2321T>G (p.Leu774Arg)
n.258T>G
c.236T>G (p.Leu79Arg)
2g.27232090G>ACA425384856CADc.2511G>A (p.Leu837=)
c.2322G>A (p.Leu774=)
n.259G>A
c.237G>A (p.Leu79=)
 dbSNP
2g.27232090G>CCA425384858CADc.2511G>C (p.Leu837=)
c.2322G>C (p.Leu774=)
n.259G>C
c.237G>C (p.Leu79=)
 gnomAD v4
2g.27232090G=CA1240180285CADc.2511G= (p.Leu837=)
c.2322G= (p.Leu774=)
n.259G=
c.237G= (p.Leu79=)
2g.27232090G>TCA425384857CADc.2511G>T (p.Leu837=)
c.2322G>T (p.Leu774=)
n.259G>T
c.237G>T (p.Leu79=)
2g.27232091C>ACA346211507CADc.2512C>A (p.His838Asn)
c.2323C>A (p.His775Asn)
n.260C>A
c.238C>A (p.His80Asn)
2g.27232091C>GCA346211508CADc.2512C>G (p.His838Asp)
c.2323C>G (p.His775Asp)
n.260C>G
c.238C>G (p.His80Asp)
2g.27232091C>TCA346211510CADc.2512C>T (p.His838Tyr)
c.2323C>T (p.His775Tyr)
n.260C>T
c.238C>T (p.His80Tyr)
2g.27232092A=CA1240180286CADc.2513A= (p.His838=)
c.2324A= (p.His775=)
n.261A=
c.239A= (p.His80=)
2g.27232092A>CCA346211512CADc.2513A>C (p.His838Pro)
c.2324A>C (p.His775Pro)
n.261A>C
c.239A>C (p.His80Pro)
2g.27232092A>GCA346211513CADc.2513A>G (p.His838Arg)
c.2324A>G (p.His775Arg)
n.261A>G
c.239A>G (p.His80Arg)
 dbSNP
2g.27232092A>TCA346211515CADc.2513A>T (p.His838Leu)
c.2324A>T (p.His775Leu)
n.261A>T
c.239A>T (p.His80Leu)
2g.27232093C>ACA346211516CADc.2514C>A (p.His838Gln)
c.2325C>A (p.His775Gln)
n.262C>A
c.240C>A (p.His80Gln)
2g.27232093C>GCA346211517CADc.2514C>G (p.His838Gln)
c.2325C>G (p.His775Gln)
n.262C>G
c.240C>G (p.His80Gln)
2g.27232093C>TCA425384859CADc.2514C>T (p.His838=)
c.2325C>T (p.His775=)
n.262C>T
c.240C>T (p.His80=)
2g.27232094C>ACA425384860CADc.2515C>A (p.Arg839=)
c.2326C>A (p.Arg776=)
n.263C>A
c.241C>A (p.Arg81=)
2g.27232094C=CA1240180287CADc.2515C= (p.Arg839=)
c.2326C= (p.Arg776=)
n.263C=
c.241C= (p.Arg81=)
2g.27232094C>GCA346211519CADc.2515C>G (p.Arg839Gly)
c.2326C>G (p.Arg776Gly)
n.263C>G
c.241C>G (p.Arg81Gly)
 dbSNP
2g.27232094C>TCA1573036CADc.2515C>T (p.Arg839Ter)
c.2326C>T (p.Arg776Ter)
n.263C>T
c.241C>T (p.Arg81Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.27232095G>ACA1573037CADc.2516G>A (p.Arg839Gln)
c.2327G>A (p.Arg776Gln)
n.264G>A
c.242G>A (p.Arg81Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232095G>CCA346211522CADc.2516G>C (p.Arg839Pro)
c.2327G>C (p.Arg776Pro)
n.264G>C
c.242G>C (p.Arg81Pro)
2g.27232095G=CA1240180288CADc.2516G= (p.Arg839=)
c.2327G= (p.Arg776=)
n.264G=
c.242G= (p.Arg81=)
2g.27232095G>TCA346211520CADc.2516G>T (p.Arg839Leu)
c.2327G>T (p.Arg776Leu)
n.264G>T
c.242G>T (p.Arg81Leu)
2g.27232096A>CCA425384861CADc.2517A>C (p.Arg839=)
c.2328A>C (p.Arg776=)
n.265A>C
c.243A>C (p.Arg81=)
2g.27232096A>GCA425384863CADc.2517A>G (p.Arg839=)
c.2328A>G (p.Arg776=)
n.265A>G
c.243A>G (p.Arg81=)
2g.27232096A>TCA425384862CADc.2517A>T (p.Arg839=)
c.2328A>T (p.Arg776=)
n.265A>T
c.243A>T (p.Arg81=)
2g.27232097A>CCA346211527CADc.2518A>C (p.Met840Leu)
c.2329A>C (p.Met777Leu)
n.266A>C
c.244A>C (p.Met82Leu)
2g.27232097A>GCA346211525CADc.2518A>G (p.Met840Val)
c.2329A>G (p.Met777Val)
n.266A>G
c.244A>G (p.Met82Val)
 gnomAD v4
2g.27232097A>TCA346211526CADc.2518A>T (p.Met840Leu)
c.2329A>T (p.Met777Leu)
n.266A>T
c.244A>T (p.Met82Leu)
2g.27232098T>ACA346211530CADc.2519T>A (p.Met840Lys)
c.2330T>A (p.Met777Lys)
n.267T>A
c.245T>A (p.Met82Lys)
2g.27232098T>CCA346211531CADc.2519T>C (p.Met840Thr)
c.2330T>C (p.Met777Thr)
n.267T>C
c.245T>C (p.Met82Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232098T>GCA346211533CADc.2519T>G (p.Met840Arg)
c.2330T>G (p.Met777Arg)
n.267T>G
c.245T>G (p.Met82Arg)
2g.27232098T=CA1240180289CADc.2519T= (p.Met840=)
c.2330T= (p.Met777=)
n.267T=
c.245T= (p.Met82=)
2g.27232099G>ACA346211537CADc.2520G>A (p.Met840Ile)
c.2331G>A (p.Met777Ile)
n.268G>A
c.246G>A (p.Met82Ile)
 gnomAD v4
2g.27232099G>CCA346211539CADc.2520G>C (p.Met840Ile)
c.2331G>C (p.Met777Ile)
n.268G>C
c.246G>C (p.Met82Ile)
2g.27232099G>TCA346211540CADc.2520G>T (p.Met840Ile)
c.2331G>T (p.Met777Ile)
n.268G>T
c.246G>T (p.Met82Ile)
2g.27232100A>CCA346211542CADc.2521A>C (p.Lys841Gln)
c.2332A>C (p.Lys778Gln)
n.269A>C
c.247A>C (p.Lys83Gln)
2g.27232100A>GCA346211544CADc.2521A>G (p.Lys841Glu)
c.2332A>G (p.Lys778Glu)
n.269A>G
c.247A>G (p.Lys83Glu)
2g.27232100A>TCA346211545CADc.2521A>T (p.Lys841Ter)
c.2332A>T (p.Lys778Ter)
n.269A>T
c.247A>T (p.Lys83Ter)
2g.27232101A=CA1240180290CADc.2522A= (p.Lys841=)
c.2333A= (p.Lys778=)
n.270A=
c.248A= (p.Lys83=)
2g.27232101A>CCA346211547CADc.2522A>C (p.Lys841Thr)
c.2333A>C (p.Lys778Thr)
n.270A>C
c.248A>C (p.Lys83Thr)
2g.27232101A>GCA44507179CADc.2522A>G (p.Lys841Arg)
c.2333A>G (p.Lys778Arg)
n.270A>G
c.248A>G (p.Lys83Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232101A>TCA346211550CADc.2522A>T (p.Lys841Met)
c.2333A>T (p.Lys778Met)
n.270A>T
c.248A>T (p.Lys83Met)
2g.27232102G>ACA425384864CADc.2523G>A (p.Lys841=)
c.2334G>A (p.Lys778=)
n.271G>A
c.249G>A (p.Lys83=)
 dbSNP gnomAD v3 gnomAD v4
2g.27232102G>CCA346211551CADc.2523G>C (p.Lys841Asn)
c.2334G>C (p.Lys778Asn)
n.271G>C
c.249G>C (p.Lys83Asn)
2g.27232102G=CA1240180291CADc.2523G= (p.Lys841=)
c.2334G= (p.Lys778=)
n.271G=
c.249G= (p.Lys83=)
2g.27232102G>TCA1573038CADc.2523G>T (p.Lys841Asn)
c.2334G>T (p.Lys778Asn)
n.271G>T
c.249G>T (p.Lys83Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232103C>ACA346211552CADc.2524C>A (p.Arg842Ser)
c.2335C>A (p.Arg779Ser)
n.272C>A
c.250C>A (p.Arg84Ser)
2g.27232103C=CA1240180292CADc.2524C= (p.Arg842=)
c.2335C= (p.Arg779=)
n.272C=
c.250C= (p.Arg84=)
2g.27232103C>GCA346211554CADc.2524C>G (p.Arg842Gly)
c.2335C>G (p.Arg779Gly)
n.272C>G
c.250C>G (p.Arg84Gly)
 gnomAD v4
2g.27232103C>TCA346211555CADc.2524C>T (p.Arg842Cys)
c.2335C>T (p.Arg779Cys)
n.272C>T
c.250C>T (p.Arg84Cys)
 ClinVar dbSNP gnomAD v4
2g.27232104G>ACA1573039CADc.2525G>A (p.Arg842His)
c.2336G>A (p.Arg779His)
n.273G>A
c.251G>A (p.Arg84His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232104G>CCA346211557CADc.2525G>C (p.Arg842Pro)
c.2336G>C (p.Arg779Pro)
n.273G>C
c.251G>C (p.Arg84Pro)
2g.27232104G=CA1240180293CADc.2525G= (p.Arg842=)
c.2336G= (p.Arg779=)
n.273G=
c.251G= (p.Arg84=)
2g.27232104G>TCA346211558CADc.2525G>T (p.Arg842Leu)
c.2336G>T (p.Arg779Leu)
n.273G>T
c.251G>T (p.Arg84Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232105T>ACA425384865CADc.2526T>A (p.Arg842=)
c.2337T>A (p.Arg779=)
n.274T>A
c.252T>A (p.Arg84=)
2g.27232105T>CCA425384866CADc.2526T>C (p.Arg842=)
c.2337T>C (p.Arg779=)
n.274T>C
c.252T>C (p.Arg84=)
2g.27232105T>GCA425384867CADc.2526T>G (p.Arg842=)
c.2337T>G (p.Arg779=)
n.274T>G
c.252T>G (p.Arg84=)
2g.27232106A>CCA346211559CADc.2527A>C (p.Ile843Leu)
c.2338A>C (p.Ile780Leu)
n.275A>C
c.253A>C (p.Ile85Leu)
2g.27232106A>GCA346211561CADc.2527A>G (p.Ile843Val)
c.2338A>G (p.Ile780Val)
n.275A>G
c.253A>G (p.Ile85Val)
2g.27232106A>TCA346211562CADc.2527A>T (p.Ile843Phe)
c.2338A>T (p.Ile780Phe)
n.275A>T
c.253A>T (p.Ile85Phe)
2g.27232107T>ACA346211564CADc.2528T>A (p.Ile843Asn)
c.2339T>A (p.Ile780Asn)
n.276T>A
c.254T>A (p.Ile85Asn)
2g.27232107T>CCA346211565CADc.2528T>C (p.Ile843Thr)
c.2339T>C (p.Ile780Thr)
n.276T>C
c.254T>C (p.Ile85Thr)
2g.27232107T>GCA346211567CADc.2528T>G (p.Ile843Ser)
c.2339T>G (p.Ile780Ser)
n.276T>G
c.254T>G (p.Ile85Ser)
2g.27232108C>ACA425384868CADc.2529C>A (p.Ile843=)
c.2340C>A (p.Ile780=)
n.277C>A
c.255C>A (p.Ile85=)
2g.27232108C=CA1240180294CADc.2529C= (p.Ile843=)
c.2340C= (p.Ile780=)
n.277C=
c.255C= (p.Ile85=)
2g.27232108C>GCA346211569CADc.2529C>G (p.Ile843Met)
c.2340C>G (p.Ile780Met)
n.277C>G
c.255C>G (p.Ile85Met)
2g.27232108C>TCA425384869CADc.2529C>T (p.Ile843=)
c.2340C>T (p.Ile780=)
n.277C>T
c.255C>T (p.Ile85=)
 dbSNP gnomAD v2 gnomAD v4
2g.27232109A=CA1240180295CADc.2530A= (p.Ile844=)
c.2341A= (p.Ile781=)
n.278A=
c.256A= (p.Ile86=)
2g.27232109A>CCA346211572CADc.2530A>C (p.Ile844Leu)
c.2341A>C (p.Ile781Leu)
n.278A>C
c.256A>C (p.Ile86Leu)
2g.27232109A>GCA346211574CADc.2530A>G (p.Ile844Val)
c.2341A>G (p.Ile781Val)
n.278A>G
c.256A>G (p.Ile86Val)
 ClinVar dbSNP gnomAD v4
2g.27232109A>TCA346211570CADc.2530A>T (p.Ile844Phe)
c.2341A>T (p.Ile781Phe)
n.278A>T
c.256A>T (p.Ile86Phe)
2g.27232110T>ACA1573040CADc.2531T>A (p.Ile844Asn)
c.2342T>A (p.Ile781Asn)
n.279T>A
c.257T>A (p.Ile86Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232110T>CCA346211575CADc.2531T>C (p.Ile844Thr)
c.2342T>C (p.Ile781Thr)
n.279T>C
c.257T>C (p.Ile86Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232110T>GCA346211576CADc.2531T>G (p.Ile844Ser)
c.2342T>G (p.Ile781Ser)
n.279T>G
c.257T>G (p.Ile86Ser)
2g.27232110T=CA1240180296CADc.2531T= (p.Ile844=)
c.2342T= (p.Ile781=)
n.279T=
c.257T= (p.Ile86=)
2g.27232111C>ACA425384870CADc.2532C>A (p.Ile844=)
c.2343C>A (p.Ile781=)
n.280C>A
c.258C>A (p.Ile86=)
2g.27232111C=CA1240180297CADc.2532C= (p.Ile844=)
c.2343C= (p.Ile781=)
n.280C=
c.258C= (p.Ile86=)
2g.27232111C>GCA346211577CADc.2532C>G (p.Ile844Met)
c.2343C>G (p.Ile781Met)
n.280C>G
c.258C>G (p.Ile86Met)
2g.27232111C>TCA1573041CADc.2532C>T (p.Ile844=)
c.2343C>T (p.Ile781=)
n.280C>T
c.258C>T (p.Ile86=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232112G>ACA1573042CADc.2533G>A (p.Ala845Thr)
c.2344G>A (p.Ala782Thr)
n.281G>A
c.259G>A (p.Ala87Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232112G>CCA1573043CADc.2533G>C (p.Ala845Pro)
c.2344G>C (p.Ala782Pro)
n.281G>C
c.259G>C (p.Ala87Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232112G=CA1240180298CADc.2533G= (p.Ala845=)
c.2344G= (p.Ala782=)
n.281G=
c.259G= (p.Ala87=)
2g.27232112G>TCA346211579CADc.2533G>T (p.Ala845Ser)
c.2344G>T (p.Ala782Ser)
n.281G>T
c.259G>T (p.Ala87Ser)
2g.27232113C>ACA346211583CADc.2534C>A (p.Ala845Glu)
c.2345C>A (p.Ala782Glu)
n.282C>A
c.260C>A (p.Ala87Glu)
2g.27232113C>GCA346211584CADc.2534C>G (p.Ala845Gly)
c.2345C>G (p.Ala782Gly)
n.282C>G
c.260C>G (p.Ala87Gly)
 gnomAD v4
2g.27232113C>TCA346211585CADc.2534C>T (p.Ala845Val)
c.2345C>T (p.Ala782Val)
n.282C>T
c.260C>T (p.Ala87Val)
2g.27232114A>CCA425384871CADc.2535A>C (p.Ala845=)
c.2346A>C (p.Ala782=)
n.283A>C
c.261A>C (p.Ala87=)
 gnomAD v4
2g.27232114A>GCA425384872CADc.2535A>G (p.Ala845=)
c.2346A>G (p.Ala782=)
n.283A>G
c.261A>G (p.Ala87=)
 gnomAD v4
2g.27232114A>TCA425384873CADc.2535A>T (p.Ala845=)
c.2346A>T (p.Ala782=)
n.283A>T
c.261A>T (p.Ala87=)
2g.27232115C>ACA346211586CADc.2536C>A (p.His846Asn)
c.2347C>A (p.His783Asn)
n.284C>A
c.262C>A (p.His88Asn)
2g.27232115C=CA1240180299CADc.2536C= (p.His846=)
c.2347C= (p.His783=)
n.284C=
c.262C= (p.His88=)
2g.27232115C>GCA346211587CADc.2536C>G (p.His846Asp)
c.2347C>G (p.His783Asp)
n.284C>G
c.262C>G (p.His88Asp)
2g.27232115C>TCA44507191CADc.2536C>T (p.His846Tyr)
c.2347C>T (p.His783Tyr)
n.284C>T
c.262C>T (p.His88Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.27232116A=CA1240180300CADc.2537A= (p.His846=)
c.2348A= (p.His783=)
n.285A=
c.263A= (p.His88=)
2g.27232116A>CCA346211591CADc.2537A>C (p.His846Pro)
c.2348A>C (p.His783Pro)
n.285A>C
c.263A>C (p.His88Pro)
2g.27232116A>GCA44507193CADc.2537A>G (p.His846Arg)
c.2348A>G (p.His783Arg)
n.285A>G
c.263A>G (p.His88Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232116A>TCA346211590CADc.2537A>T (p.His846Leu)
c.2348A>T (p.His783Leu)
n.285A>T
c.263A>T (p.His88Leu)
2g.27232117T>ACA346211593CADc.2538T>A (p.His846Gln)
c.2349T>A (p.His783Gln)
n.286T>A
c.264T>A (p.His88Gln)
2g.27232117T>CCA1573044CADc.2538T>C (p.His846=)
c.2349T>C (p.His783=)
n.286T>C
c.264T>C (p.His88=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232117T>GCA346211595CADc.2538T>G (p.His846Gln)
c.2349T>G (p.His783Gln)
n.286T>G
c.264T>G (p.His88Gln)
2g.27232117T=CA1240180301CADc.2538T= (p.His846=)
c.2349T= (p.His783=)
n.286T=
c.264T= (p.His88=)
2g.27232118G>ACA346211597CADc.2539G>A (p.Ala847Thr)
c.2350G>A (p.Ala784Thr)
n.287G>A
c.265G>A (p.Ala89Thr)
2g.27232118G>CCA346211599CADc.2539G>C (p.Ala847Pro)
c.2350G>C (p.Ala784Pro)
n.287G>C
c.265G>C (p.Ala89Pro)
2g.27232118G>TCA346211600CADc.2539G>T (p.Ala847Ser)
c.2350G>T (p.Ala784Ser)
n.287G>T
c.265G>T (p.Ala89Ser)
2g.27232119C>ACA346211602CADc.2540C>A (p.Ala847Asp)
c.2351C>A (p.Ala784Asp)
n.288C>A
c.266C>A (p.Ala89Asp)
2g.27232119C>GCA346211603CADc.2540C>G (p.Ala847Gly)
c.2351C>G (p.Ala784Gly)
n.288C>G
c.266C>G (p.Ala89Gly)
2g.27232119C>TCA346211605CADc.2540C>T (p.Ala847Val)
c.2351C>T (p.Ala784Val)
n.288C>T
c.266C>T (p.Ala89Val)
2g.27232120C>ACA425384874CADc.2541C>A (p.Ala847=)
c.2352C>A (p.Ala784=)
n.289C>A
c.267C>A (p.Ala89=)
2g.27232120C>GCA425384875CADc.2541C>G (p.Ala847=)
c.2352C>G (p.Ala784=)
n.289C>G
c.267C>G (p.Ala89=)
2g.27232120C>TCA425384876CADc.2541C>T (p.Ala847=)
c.2352C>T (p.Ala784=)
n.289C>T
c.267C>T (p.Ala89=)
2g.27232121C>ACA346211607CADc.2542C>A (p.Gln848Lys)
c.2353C>A (p.Gln785Lys)
n.290C>A
c.268C>A (p.Gln90Lys)
2g.27232121C>GCA346211608CADc.2542C>G (p.Gln848Glu)
c.2353C>G (p.Gln785Glu)
n.290C>G
c.268C>G (p.Gln90Glu)
2g.27232121C>TCA346211609CADc.2542C>T (p.Gln848Ter)
c.2353C>T (p.Gln785Ter)
n.290C>T
c.268C>T (p.Gln90Ter)
2g.27232122A>CCA346211610CADc.2543A>C (p.Gln848Pro)
c.2354A>C (p.Gln785Pro)
n.291A>C
c.269A>C (p.Gln90Pro)
2g.27232122A>GCA346211613CADc.2543A>G (p.Gln848Arg)
c.2354A>G (p.Gln785Arg)
n.291A>G
c.269A>G (p.Gln90Arg)
2g.27232122A>TCA346211611CADc.2543A>T (p.Gln848Leu)
c.2354A>T (p.Gln785Leu)
n.291A>T
c.269A>T (p.Gln90Leu)
2g.27232123G>ACA425384877CADc.2544G>A (p.Gln848=)
c.2355G>A (p.Gln785=)
n.292G>A
c.270G>A (p.Gln90=)
2g.27232123G>CCA346211617CADc.2544G>C (p.Gln848His)
c.2355G>C (p.Gln785His)
n.292G>C
c.270G>C (p.Gln90His)
2g.27232123G>TCA346211620CADc.2544G>T (p.Gln848His)
c.2355G>T (p.Gln785His)
n.292G>T
c.270G>T (p.Gln90His)
2g.27232124C>ACA346211623CADc.2545C>A (p.Leu849Met)
c.2356C>A (p.Leu786Met)
n.293C>A
c.271C>A (p.Leu91Met)
2g.27232124C>GCA346211625CADc.2545C>G (p.Leu849Val)
c.2356C>G (p.Leu786Val)
n.293C>G
c.271C>G (p.Leu91Val)
2g.27232124C>TCA425384878CADc.2545C>T (p.Leu849=)
c.2356C>T (p.Leu786=)
n.293C>T
c.271C>T (p.Leu91=)
2g.27232125T>ACA346211629CADc.2546T>A (p.Leu849Gln)
c.2357T>A (p.Leu786Gln)
n.294T>A
c.272T>A (p.Leu91Gln)
2g.27232125T>CCA346211631CADc.2546T>C (p.Leu849Pro)
c.2357T>C (p.Leu786Pro)
n.294T>C
c.272T>C (p.Leu91Pro)
2g.27232125T>GCA346211634CADc.2546T>G (p.Leu849Arg)
c.2357T>G (p.Leu786Arg)
n.294T>G
c.272T>G (p.Leu91Arg)
2g.27232126G>ACA425384881CADc.2547G>A (p.Leu849=)
c.2358G>A (p.Leu786=)
n.295G>A
c.273G>A (p.Leu91=)
 gnomAD v4
2g.27232126G>CCA425384879CADc.2547G>C (p.Leu849=)
c.2358G>C (p.Leu786=)
n.295G>C
c.273G>C (p.Leu91=)
2g.27232126G>TCA425384880CADc.2547G>T (p.Leu849=)
c.2358G>T (p.Leu786=)
n.295G>T
c.273G>T (p.Leu91=)
2g.27232127C>ACA346211638CADc.2548C>A (p.Leu850Ile)
c.2359C>A (p.Leu787Ile)
n.296C>A
c.274C>A (p.Leu92Ile)
2g.27232127C>GCA346211641CADc.2548C>G (p.Leu850Val)
c.2359C>G (p.Leu787Val)
n.296C>G
c.274C>G (p.Leu92Val)
2g.27232127C>TCA425384882CADc.2548C>T (p.Leu850=)
c.2359C>T (p.Leu787=)
n.296C>T
c.274C>T (p.Leu92=)
2g.27232128T>ACA346211644CADc.2549T>A (p.Leu850Gln)
c.2360T>A (p.Leu787Gln)
n.297T>A
c.275T>A (p.Leu92Gln)
2g.27232128T>CCA346211646CADc.2549T>C (p.Leu850Pro)
c.2360T>C (p.Leu787Pro)
n.297T>C
c.275T>C (p.Leu92Pro)
2g.27232128T>GCA346211648CADc.2549T>G (p.Leu850Arg)
c.2360T>G (p.Leu787Arg)
n.297T>G
c.275T>G (p.Leu92Arg)
2g.27232129A=CA1240180302CADc.2550A= (p.Leu850=)
c.2361A= (p.Leu787=)
n.298A=
c.276A= (p.Leu92=)
2g.27232129A>CCA425384883CADc.2550A>C (p.Leu850=)
c.2361A>C (p.Leu787=)
n.298A>C
c.276A>C (p.Leu92=)
2g.27232129A>GCA1573045CADc.2550A>G (p.Leu850=)
c.2361A>G (p.Leu787=)
n.298A>G
c.276A>G (p.Leu92=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232129A>TCA425384884CADc.2550A>T (p.Leu850=)
c.2361A>T (p.Leu787=)
n.298A>T
c.276A>T (p.Leu92=)
2g.27232130G>ACA346211653CADc.2551G>A (p.Glu851Lys)
c.2362G>A (p.Glu788Lys)
n.299G>A
c.277G>A (p.Glu93Lys)
2g.27232130G>CCA346211660CADc.2551G>C (p.Glu851Gln)
c.2362G>C (p.Glu788Gln)
n.299G>C
c.277G>C (p.Glu93Gln)
2g.27232130G>TCA346211656CADc.2551G>T (p.Glu851Ter)
c.2362G>T (p.Glu788Ter)
n.299G>T
c.277G>T (p.Glu93Ter)
2g.27232131A>CCA346211662CADc.2552A>C (p.Glu851Ala)
c.2363A>C (p.Glu788Ala)
n.300A>C
c.278A>C (p.Glu93Ala)
2g.27232131A>GCA346211664CADc.2552A>G (p.Glu851Gly)
c.2363A>G (p.Glu788Gly)
n.300A>G
c.278A>G (p.Glu93Gly)
2g.27232131A>TCA346211667CADc.2552A>T (p.Glu851Val)
c.2363A>T (p.Glu788Val)
n.300A>T
c.278A>T (p.Glu93Val)
2g.27232132A>CCA346211668CADc.2553A>C (p.Glu851Asp)
c.2364A>C (p.Glu788Asp)
n.301A>C
c.279A>C (p.Glu93Asp)
2g.27232132A>GCA425598678CADc.2553A>G (p.Glu851=)
c.2364A>G (p.Glu788=)
n.301A>G
c.279A>G (p.Glu93=)
2g.27232132A>TCA346211670CADc.2553A>T (p.Glu851Asp)
c.2364A>T (p.Glu788Asp)
n.301A>T
c.279A>T (p.Glu93Asp)
2g.27232133C>ACA346211679CADc.2554C>A (p.Gln852Lys)
c.2365C>A (p.Gln789Lys)
n.302C>A
c.280C>A (p.Gln94Lys)
2g.27232133C>GCA346211680CADc.2554C>G (p.Gln852Glu)
c.2365C>G (p.Gln789Glu)
n.302C>G
c.280C>G (p.Gln94Glu)
2g.27232133C>TCA346211682CADc.2554C>T (p.Gln852Ter)
c.2365C>T (p.Gln789Ter)
n.302C>T
c.280C>T (p.Gln94Ter)
2g.27232134A>CCA346211685CADc.2555A>C (p.Gln852Pro)
c.2366A>C (p.Gln789Pro)
n.303A>C
c.281A>C (p.Gln94Pro)
2g.27232134A>GCA346211687CADc.2555A>G (p.Gln852Arg)
c.2366A>G (p.Gln789Arg)
n.303A>G
c.281A>G (p.Gln94Arg)
 gnomAD v4
2g.27232134A>TCA346211688CADc.2555A>T (p.Gln852Leu)
c.2366A>T (p.Gln789Leu)
n.303A>T
c.281A>T (p.Gln94Leu)
2g.27232135A>CCA346211691CADc.2556A>C (p.Gln852His)
c.2367A>C (p.Gln789His)
n.304A>C
c.282A>C (p.Gln94His)
2g.27232135A>GCA425598679CADc.2556A>G (p.Gln852=)
c.2367A>G (p.Gln789=)
n.304A>G
c.282A>G (p.Gln94=)
2g.27232135A>TCA346211693CADc.2556A>T (p.Gln852His)
c.2367A>T (p.Gln789His)
n.304A>T
c.282A>T (p.Gln94His)
2g.27232136C>ACA346211696CADc.2557C>A (p.His853Asn)
c.2368C>A (p.His790Asn)
n.305C>A
c.283C>A (p.His95Asn)
2g.27232136C>GCA346211701CADc.2557C>G (p.His853Asp)
c.2368C>G (p.His790Asp)
n.305C>G
c.283C>G (p.His95Asp)
2g.27232136C>TCA346211698CADc.2557C>T (p.His853Tyr)
c.2368C>T (p.His790Tyr)
n.305C>T
c.283C>T (p.His95Tyr)
 gnomAD v4
2g.27232137A=CA1240180303CADc.2558A= (p.His853=)
c.2369A= (p.His790=)
n.306A=
c.284A= (p.His95=)
2g.27232137A>CCA346211703CADc.2558A>C (p.His853Pro)
c.2369A>C (p.His790Pro)
n.306A>C
c.284A>C (p.His95Pro)
 dbSNP
2g.27232137A>GCA346211706CADc.2558A>G (p.His853Arg)
c.2369A>G (p.His790Arg)
n.306A>G
c.284A>G (p.His95Arg)
2g.27232137A>TCA346211704CADc.2558A>T (p.His853Leu)
c.2369A>T (p.His790Leu)
n.306A>T
c.284A>T (p.His95Leu)
2g.27232138C>ACA346211710CADc.2559C>A (p.His853Gln)
c.2370C>A (p.His790Gln)
n.307C>A
c.285C>A (p.His95Gln)
 dbSNP
2g.27232138C=CA1240180304CADc.2559C= (p.His853=)
c.2370C= (p.His790=)
n.307C=
c.285C= (p.His95=)
2g.27232138C>GCA346211712CADc.2559C>G (p.His853Gln)
c.2370C>G (p.His790Gln)
n.307C>G
c.285C>G (p.His95Gln)
2g.27232138C>TCA425598680CADc.2559C>T (p.His853=)
c.2370C>T (p.His790=)
n.307C>T
c.285C>T (p.His95=)
2g.27232139C>ACA346211715CADc.2560C>A (p.Arg854Ser)
c.2371C>A (p.Arg791Ser)
n.308C>A
c.286C>A (p.Arg96Ser)
2g.27232139C=CA1240180305CADc.2560C= (p.Arg854=)
c.2371C= (p.Arg791=)
n.308C=
c.286C= (p.Arg96=)
2g.27232139C>GCA346211721CADc.2560C>G (p.Arg854Gly)
c.2371C>G (p.Arg791Gly)
n.308C>G
c.286C>G (p.Arg96Gly)
2g.27232139C>TCA44507217CADc.2560C>T (p.Arg854Cys)
c.2371C>T (p.Arg791Cys)
n.308C>T
c.286C>T (p.Arg96Cys)
 dbSNP gnomAD v4
2g.27232140G>ACA346211722CADc.2561G>A (p.Arg854His)
c.2372G>A (p.Arg791His)
n.309G>A
c.287G>A (p.Arg96His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.27232140G>CCA346211725CADc.2561G>C (p.Arg854Pro)
c.2372G>C (p.Arg791Pro)
n.309G>C
c.287G>C (p.Arg96Pro)
2g.27232140G=CA1240180306CADc.2561G= (p.Arg854=)
c.2372G= (p.Arg791=)
n.309G=
c.287G= (p.Arg96=)
2g.27232140G>TCA346211736CADc.2561G>T (p.Arg854Leu)
c.2372G>T (p.Arg791Leu)
n.309G>T
c.287G>T (p.Arg96Leu)
2g.27232141T>ACA425598681CADc.2562T>A (p.Arg854=)
c.2373T>A (p.Arg791=)
n.310T>A
c.288T>A (p.Arg96=)
2g.27232141T>CCA425598682CADc.2562T>C (p.Arg854=)
c.2373T>C (p.Arg791=)
n.310T>C
c.288T>C (p.Arg96=)
2g.27232141T>GCA425598683CADc.2562T>G (p.Arg854=)
c.2373T>G (p.Arg791=)
n.310T>G
c.288T>G (p.Arg96=)
2g.27232142G>ACA346211738CADc.2563G>A (p.Gly855Arg)
c.2374G>A (p.Gly792Arg)
n.311G>A
c.289G>A (p.Gly97Arg)
2g.27232142G>CCA346211741CADc.2563G>C (p.Gly855Arg)
c.2374G>C (p.Gly792Arg)
n.311G>C
c.289G>C (p.Gly97Arg)
2g.27232142G>TCA346211743CADc.2563G>T (p.Gly855Ter)
c.2374G>T (p.Gly792Ter)
n.311G>T
c.289G>T (p.Gly97Ter)
 COSMIC
2g.27232143G>ACA346211746CADc.2564G>A (p.Gly855Glu)
c.2375G>A (p.Gly792Glu)
n.312G>A
c.290G>A (p.Gly97Glu)
 gnomAD v4
2g.27232143G>CCA346211747CADc.2564G>C (p.Gly855Ala)
c.2375G>C (p.Gly792Ala)
n.312G>C
c.290G>C (p.Gly97Ala)
2g.27232143G>TCA346211749CADc.2564G>T (p.Gly855Val)
c.2375G>T (p.Gly792Val)
n.312G>T
c.290G>T (p.Gly97Val)
2g.27232144A>CCA425598687CADc.2565A>C (p.Gly855=)
c.2376A>C (p.Gly792=)
n.313A>C
c.291A>C (p.Gly97=)
2g.27232144A>GCA425598688CADc.2565A>G (p.Gly855=)
c.2376A>G (p.Gly792=)
n.313A>G
c.291A>G (p.Gly97=)
 ClinVar
2g.27232144A>TCA425598689CADc.2565A>T (p.Gly855=)
c.2376A>T (p.Gly792=)
n.313A>T
c.291A>T (p.Gly97=)
2g.27232145C>ACA346211751CADc.2566C>A (p.Gln856Lys)
c.2377C>A (p.Gln793Lys)
n.314C>A
c.292C>A (p.Gln98Lys)
2g.27232145C>GCA346211753CADc.2566C>G (p.Gln856Glu)
c.2377C>G (p.Gln793Glu)
n.314C>G
c.292C>G (p.Gln98Glu)
2g.27232145C>TCA346211755CADc.2566C>T (p.Gln856Ter)
c.2377C>T (p.Gln793Ter)
n.314C>T
c.292C>T (p.Gln98Ter)
2g.27232146A=CA1240180307CADc.2567A= (p.Gln856=)
c.2378A= (p.Gln793=)
n.315A=
c.293A= (p.Gln98=)
2g.27232146A>CCA346211757CADc.2567A>C (p.Gln856Pro)
c.2378A>C (p.Gln793Pro)
n.315A>C
c.293A>C (p.Gln98Pro)
2g.27232146A>GCA346211761CADc.2567A>G (p.Gln856Arg)
c.2378A>G (p.Gln793Arg)
n.315A>G
c.293A>G (p.Gln98Arg)
 dbSNP gnomAD v4
2g.27232146A>TCA346211759CADc.2567A>T (p.Gln856Leu)
c.2378A>T (p.Gln793Leu)
n.315A>T
c.293A>T (p.Gln98Leu)

Number of alleles fetched