Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
2g.27232147G>ACA425598694CADc.2568G>A (p.Gln856=)
c.2379G>A (p.Gln793=)
n.316G>A
c.294G>A (p.Gln98=)
2g.27232147G>CCA1573046CADc.2568G>C (p.Gln856His)
c.2379G>C (p.Gln793His)
n.316G>C
c.294G>C (p.Gln98His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232147G=CA1240180308CADc.2568G= (p.Gln856=)
c.2379G= (p.Gln793=)
n.316G=
c.294G= (p.Gln98=)
2g.27232147G>TCA346211765CADc.2568G>T (p.Gln856His)
c.2379G>T (p.Gln793His)
n.316G>T
c.294G>T (p.Gln98His)
2g.27232148C>ACA346211766CADc.2569C>A (p.Pro857Thr)
c.2380C>A (p.Pro794Thr)
n.317C>A
c.295C>A (p.Pro99Thr)
2g.27232148C>GCA346211767CADc.2569C>G (p.Pro857Ala)
c.2380C>G (p.Pro794Ala)
n.317C>G
c.295C>G (p.Pro99Ala)
2g.27232148C>TCA346211769CADc.2569C>T (p.Pro857Ser)
c.2380C>T (p.Pro794Ser)
n.317C>T
c.295C>T (p.Pro99Ser)
2g.27232149C>ACA346211771CADc.2570C>A (p.Pro857His)
c.2381C>A (p.Pro794His)
n.318C>A
c.296C>A (p.Pro99His)
2g.27232149C>GCA346211772CADc.2570C>G (p.Pro857Arg)
c.2381C>G (p.Pro794Arg)
n.318C>G
c.296C>G (p.Pro99Arg)
2g.27232149C>TCA346211775CADc.2570C>T (p.Pro857Leu)
c.2381C>T (p.Pro794Leu)
n.318C>T
c.296C>T (p.Pro99Leu)
2g.27232150T>ACA425598696CADc.2571T>A (p.Pro857=)
c.2382T>A (p.Pro794=)
n.319T>A
c.297T>A (p.Pro99=)
2g.27232150T>CCA425598697CADc.2571T>C (p.Pro857=)
c.2382T>C (p.Pro794=)
n.319T>C
c.297T>C (p.Pro99=)
2g.27232150T>GCA425598698CADc.2571T>G (p.Pro857=)
c.2382T>G (p.Pro794=)
n.319T>G
c.297T>G (p.Pro99=)
2g.27232151T>ACA346211778CADc.2572T>A (p.Leu858Met)
c.2383T>A (p.Leu795Met)
n.320T>A
c.298T>A (p.Leu100Met)
2g.27232151T>CCA425598699CADc.2572T>C (p.Leu858=)
c.2383T>C (p.Leu795=)
n.320T>C
c.298T>C (p.Leu100=)
2g.27232151T>GCA346211781CADc.2572T>G (p.Leu858Val)
c.2383T>G (p.Leu795Val)
n.320T>G
c.298T>G (p.Leu100Val)
2g.27232152T>ACA346211784CADc.2573T>A (p.Leu858Ter)
c.2384T>A (p.Leu795Ter)
n.321T>A
c.299T>A (p.Leu100Ter)
2g.27232152T>CCA346211786CADc.2573T>C (p.Leu858Ser)
c.2384T>C (p.Leu795Ser)
n.321T>C
c.299T>C (p.Leu100Ser)
 gnomAD v4
2g.27232152T>GCA346211783CADc.2573T>G (p.Leu858Trp)
c.2384T>G (p.Leu795Trp)
n.321T>G
c.299T>G (p.Leu100Trp)
2g.27232153G>ACA425598703CADc.2574G>A (p.Leu858=)
c.2385G>A (p.Leu795=)
n.322G>A
c.300G>A (p.Leu100=)
2g.27232153G>CCA1573047CADc.2574G>C (p.Leu858Phe)
c.2385G>C (p.Leu795Phe)
n.322G>C
c.300G>C (p.Leu100Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232153G=CA1240180309CADc.2574G= (p.Leu858=)
c.2385G= (p.Leu795=)
n.322G=
c.300G= (p.Leu100=)
2g.27232153G>TCA346211790CADc.2574G>T (p.Leu858Phe)
c.2385G>T (p.Leu795Phe)
n.322G>T
c.300G>T (p.Leu100Phe)
2g.27232154C>ACA346211793CADc.2575C>A (p.Pro859Thr)
c.2386C>A (p.Pro796Thr)
n.323C>A
c.301C>A (p.Pro101Thr)
2g.27232154C=CA1240180310CADc.2575C= (p.Pro859=)
c.2386C= (p.Pro796=)
n.323C=
c.301C= (p.Pro101=)
2g.27232154C>GCA346211796CADc.2575C>G (p.Pro859Ala)
c.2386C>G (p.Pro796Ala)
n.323C>G
c.301C>G (p.Pro101Ala)
2g.27232154C>TCA346211797CADc.2575C>T (p.Pro859Ser)
c.2386C>T (p.Pro796Ser)
n.323C>T
c.301C>T (p.Pro101Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.27232155C>ACA346211800CADc.2576C>A (p.Pro859Gln)
c.2387C>A (p.Pro796Gln)
n.324C>A
c.302C>A (p.Pro101Gln)
2g.27232155C=CA1240180311CADc.2576C= (p.Pro859=)
c.2387C= (p.Pro796=)
n.324C=
c.302C= (p.Pro101=)
2g.27232155C>GCA346211803CADc.2576C>G (p.Pro859Arg)
c.2387C>G (p.Pro796Arg)
n.324C>G
c.302C>G (p.Pro101Arg)
2g.27232155C>TCA1573048CADc.2576C>T (p.Pro859Leu)
c.2387C>T (p.Pro796Leu)
n.324C>T
c.302C>T (p.Pro101Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.27232156G>ACA1573049CADc.2577G>A (p.Pro859=)
c.2388G>A (p.Pro796=)
n.325G>A
c.303G>A (p.Pro101=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.27232156G>CCA425598707CADc.2577G>C (p.Pro859=)
c.2388G>C (p.Pro796=)
n.325G>C
c.303G>C (p.Pro101=)
2g.27232156G=CA1240180312CADc.2577G= (p.Pro859=)
c.2388G= (p.Pro796=)
n.325G=
c.303G= (p.Pro101=)
2g.27232156G>TCA425598708CADc.2577G>T (p.Pro859=)
c.2388G>T (p.Pro796=)
n.325G>T
c.303G>T (p.Pro101=)
 gnomAD v4
2g.27232157C>ACA346211809CADc.2578C>A (p.Pro860Thr)
c.2389C>A (p.Pro797Thr)
n.326C>A
c.304C>A (p.Pro102Thr)
2g.27232157C>GCA346211812CADc.2578C>G (p.Pro860Ala)
c.2389C>G (p.Pro797Ala)
n.326C>G
c.304C>G (p.Pro102Ala)
2g.27232157C>TCA346211814CADc.2578C>T (p.Pro860Ser)
c.2389C>T (p.Pro797Ser)
n.326C>T
c.304C>T (p.Pro102Ser)
2g.27232158C>ACA346211819CADc.2579C>A (p.Pro860Gln)
c.2390C>A (p.Pro797Gln)
n.327C>A
c.305C>A (p.Pro102Gln)
2g.27232158C=CA1240180313CADc.2579C= (p.Pro860=)
c.2390C= (p.Pro797=)
n.327C=
c.305C= (p.Pro102=)
2g.27232158C>GCA346211822CADc.2579C>G (p.Pro860Arg)
c.2390C>G (p.Pro797Arg)
n.327C>G
c.305C>G (p.Pro102Arg)
2g.27232158C>TCA44507245CADc.2579C>T (p.Pro860Leu)
c.2390C>T (p.Pro797Leu)
n.327C>T
c.305C>T (p.Pro102Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.27232159A>CCA425598712CADc.2580A>C (p.Pro860=)
c.2391A>C (p.Pro797=)
n.328A>C
c.306A>C (p.Pro102=)
 gnomAD v4
2g.27232159A>GCA425598713CADc.2580A>G (p.Pro860=)
c.2391A>G (p.Pro797=)
n.328A>G
c.306A>G (p.Pro102=)
2g.27232159A>TCA425598714CADc.2580A>T (p.Pro860=)
c.2391A>T (p.Pro797=)
n.328A>T
c.306A>T (p.Pro102=)
2g.27232160G>ACA346211824CADc.2581G>A (p.Asp861Asn)
c.2392G>A (p.Asp798Asn)
n.329G>A
c.307G>A (p.Asp103Asn)
2g.27232160G>CCA346211826CADc.2581G>C (p.Asp861His)
c.2392G>C (p.Asp798His)
n.329G>C
c.307G>C (p.Asp103His)
 dbSNP gnomAD v3 gnomAD v4
2g.27232160G=CA1240180314CADc.2581G= (p.Asp861=)
c.2392G= (p.Asp798=)
n.329G=
c.307G= (p.Asp103=)
2g.27232160G>TCA346211829CADc.2581G>T (p.Asp861Tyr)
c.2392G>T (p.Asp798Tyr)
n.329G>T
c.307G>T (p.Asp103Tyr)
 gnomAD v4
2g.27232161A>CCA346211831CADc.2582A>C (p.Asp861Ala)
c.2393A>C (p.Asp798Ala)
n.330A>C
c.308A>C (p.Asp103Ala)
2g.27232161A>GCA346211834CADc.2582A>G (p.Asp861Gly)
c.2393A>G (p.Asp798Gly)
n.330A>G
c.308A>G (p.Asp103Gly)
 gnomAD v4
2g.27232161A>TCA346211837CADc.2582A>T (p.Asp861Val)
c.2393A>T (p.Asp798Val)
n.330A>T
c.308A>T (p.Asp103Val)
2g.27232162C>ACA346211840CADc.2583C>A (p.Asp861Glu)
c.2394C>A (p.Asp798Glu)
n.331C>A
c.309C>A (p.Asp103Glu)
2g.27232162C>GCA346211842CADc.2583C>G (p.Asp861Glu)
c.2394C>G (p.Asp798Glu)
n.331C>G
c.309C>G (p.Asp103Glu)
2g.27232162C>TCA425598717CADc.2583C>T (p.Asp861=)
c.2394C>T (p.Asp798=)
n.331C>T
c.309C>T (p.Asp103=)
 gnomAD v4
2g.27232163C>ACA346211845CADc.2584C>A (p.Leu862Met)
c.2395C>A (p.Leu799Met)
n.332C>A
c.310C>A (p.Leu104Met)
2g.27232163C>GCA346211851CADc.2584C>G (p.Leu862Val)
c.2395C>G (p.Leu799Val)
n.332C>G
c.310C>G (p.Leu104Val)
2g.27232163C>TCA425598719CADc.2584C>T (p.Leu862=)
c.2395C>T (p.Leu799=)
n.332C>T
c.310C>T (p.Leu104=)
2g.27232164T>ACA346211854CADc.2585T>A (p.Leu862Gln)
c.2396T>A (p.Leu799Gln)
n.333T>A
c.311T>A (p.Leu104Gln)
2g.27232164T>CCA346211856CADc.2585T>C (p.Leu862Pro)
c.2396T>C (p.Leu799Pro)
n.333T>C
c.311T>C (p.Leu104Pro)
2g.27232164T>GCA346211858CADc.2585T>G (p.Leu862Arg)
c.2396T>G (p.Leu799Arg)
n.333T>G
c.311T>G (p.Leu104Arg)
2g.27232165G>ACA1573050CADc.2586G>A (p.Leu862=)
c.2397G>A (p.Leu799=)
n.334G>A
c.312G>A (p.Leu104=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.27232165G>CCA425598721CADc.2586G>C (p.Leu862=)
c.2397G>C (p.Leu799=)
n.334G>C
c.312G>C (p.Leu104=)
2g.27232165G=CA1240180315CADc.2586G= (p.Leu862=)
c.2397G= (p.Leu799=)
n.334G=
c.312G= (p.Leu104=)
2g.27232165G>TCA425598722CADc.2586G>T (p.Leu862=)
c.2397G>T (p.Leu799=)
n.334G>T
c.312G>T (p.Leu104=)
2g.27232166C>ACA346211864CADc.2587C>A (p.Leu863Met)
c.2398C>A (p.Leu800Met)
n.335C>A
c.313C>A (p.Leu105Met)
2g.27232166C>GCA346211862CADc.2587C>G (p.Leu863Val)
c.2398C>G (p.Leu800Val)
n.335C>G
c.313C>G (p.Leu105Val)
2g.27232166C>TCA425598728CADc.2587C>T (p.Leu863=)
c.2398C>T (p.Leu800=)
n.335C>T
c.313C>T (p.Leu105=)
 ClinVar
2g.27232167T>ACA346211866CADc.2588T>A (p.Leu863Gln)
c.2399T>A (p.Leu800Gln)
n.336T>A
c.314T>A (p.Leu105Gln)
2g.27232167T>CCA44507272CADc.2588T>C (p.Leu863Pro)
c.2399T>C (p.Leu800Pro)
n.336T>C
c.314T>C (p.Leu105Pro)
 dbSNP
2g.27232167T>GCA346211870CADc.2588T>G (p.Leu863Arg)
c.2399T>G (p.Leu800Arg)
n.336T>G
c.314T>G (p.Leu105Arg)
2g.27232167T=CA1240180316CADc.2588T= (p.Leu863=)
c.2399T= (p.Leu800=)
n.336T=
c.314T= (p.Leu105=)

Number of alleles fetched