Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52488283T>ACA2618928161KRT6Ac.1424+45A>T (n.1424+45A>T)
gnomAD v4
12g.52488283T>CCA6581850KRT6Ac.1424+45A>G (n.1424+45A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488283T>GCA2618928160KRT6Ac.1424+45A>C (n.1424+45A>C)
gnomAD v4
12g.52488283T=CA2036520272KRT6Ac.1424+45A= (n.1424+45A=)
12g.52488285A=CA2036520273KRT6Ac.1424+43T= (n.1424+43T=)
12g.52488285A>CCA2036520274KRT6Ac.1424+43T>G (n.1424+43T>G)
dbSNP
12g.52488285_52488292delCA2618928162KRT6Ac.1424+36_1424+43del (n.1424+36_1424+43del)
gnomAD v4
12g.52488286A=CA2036520275KRT6Ac.1424+42T= (n.1424+42T=)
12g.52488286A>GCA6581851KRT6Ac.1424+42T>C (n.1424+42T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488287G>ACA2618928163KRT6Ac.1424+41C>T (n.1424+41C>T)
gnomAD v4
12g.52488288A=CA2036520276KRT6Ac.1424+40T= (n.1424+40T=)
12g.52488288A>GCA6581852KRT6Ac.1424+40T>C (n.1424+40T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488289T>ACA605240668KRT6Ac.1424+39A>T (n.1424+39A>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52488289T>CCA2036520278KRT6Ac.1424+39A>G (n.1424+39A>G)
dbSNP gnomAD v4
12g.52488289T=CA2036520277KRT6Ac.1424+39A= (n.1424+39A=)
12g.52488290G>ACA2618928164KRT6Ac.1424+38C>T (n.1424+38C>T)
gnomAD v4
12g.52488291G>TCA2618928165KRT6Ac.1424+37C>A (n.1424+37C>A)
gnomAD v4
12g.52488293C>ACA605240669KRT6Ac.1424+35G>T (n.1424+35G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52488293C=CA2036520279KRT6Ac.1424+35G= (n.1424+35G=)
12g.52488293C>TCA2036520280KRT6Ac.1424+35G>A (n.1424+35G>A)
dbSNP gnomAD v4
12g.52488296A>GCA2618928166KRT6Ac.1424+32T>C (n.1424+32T>C)
gnomAD v4
12g.52488297_52488298delinsGCCA2036520281KRT6Ac.1424+30_1424+31delinsGC (n.1424+30_1424+31delinsGC)
12g.52488298delCA2036520283KRT6Ac.1424+30del (n.1424+30del)
dbSNP
12g.52488298C=CA2036520282KRT6Ac.1424+30G= (n.1424+30G=)
12g.52488298C>TCA6581853KRT6Ac.1424+30G>A (n.1424+30G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488300G>ACA2618928167KRT6Ac.1424+28C>T (n.1424+28C>T)
gnomAD v4
12g.52488304A=CA2036520284KRT6Ac.1424+24T= (n.1424+24T=)
12g.52488304A>GCA237229026KRT6Ac.1424+24T>C (n.1424+24T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52488306G=CA2036520285KRT6Ac.1424+22C= (n.1424+22C=)
12g.52488306G>TCA6581854KRT6Ac.1424+22C>A (n.1424+22C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52488307G>ACA689834864KRT6Ac.1424+21C>T (n.1424+21C>T)
dbSNP gnomAD v3 gnomAD v4
12g.52488307G=CA2036520286KRT6Ac.1424+21C= (n.1424+21C=)
12g.52488309G>ACA605240670KRT6Ac.1424+19C>T (n.1424+19C>T)
dbSNP gnomAD v2 gnomAD v4
12g.52488309G=CA2036520287KRT6Ac.1424+19C= (n.1424+19C=)
12g.52488309G>TCA2036520288KRT6Ac.1424+19C>A (n.1424+19C>A)
dbSNP gnomAD v4
12g.52488310T>ACA654743420KRT6Ac.1424+18A>T (n.1424+18A>T)
gnomAD v4 COSMIC
12g.52488310T>CCA605240671KRT6Ac.1424+18A>G (n.1424+18A>G)
dbSNP gnomAD v2 gnomAD v4
12g.52488310T>GCA6581855KRT6Ac.1424+18A>C (n.1424+18A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488310T=CA2036520289KRT6Ac.1424+18A= (n.1424+18A=)
12g.52488311T>ACA2618928168KRT6Ac.1424+17A>T (n.1424+17A>T)
gnomAD v4
12g.52488312C=CA2036520290KRT6Ac.1424+16G= (n.1424+16G=)
12g.52488312C>TCA6581856KRT6Ac.1424+16G>A (n.1424+16G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488313G>ACA6581857KRT6Ac.1424+15C>T (n.1424+15C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488313G=CA2036520291KRT6Ac.1424+15C= (n.1424+15C=)
12g.52488313G>TCA689834870KRT6Ac.1424+15C>A (n.1424+15C>A)
dbSNP gnomAD v3 gnomAD v4
12g.52488314T>ACA2618928170KRT6Ac.1424+14A>T (n.1424+14A>T)
gnomAD v4
12g.52488314T>CCA6581858KRT6Ac.1424+14A>G (n.1424+14A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52488314T=CA2036520292KRT6Ac.1424+14A= (n.1424+14A=)
12g.52488316T>CCA605240672KRT6Ac.1424+12A>G (n.1424+12A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52488316T=CA2036520293KRT6Ac.1424+12A= (n.1424+12A=)
12g.52488317C=CA2036520294KRT6Ac.1424+11G= (n.1424+11G=)
12g.52488317C>TCA689834877KRT6Ac.1424+11G>A (n.1424+11G>A)
dbSNP gnomAD v4
12g.52488319G>CCA6581859KRT6Ac.1424+9C>G (n.1424+9C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52488319G=CA2036520295KRT6Ac.1424+9C= (n.1424+9C=)
12g.52488322A>GCA2618928171KRT6Ac.1424+6T>C (n.1424+6T>C)
gnomAD v4
12g.52488323C>ACA2618928172KRT6Ac.1424+5G>T (n.1424+5G>T)
gnomAD v4
12g.52488325C>ACA2036520297KRT6Ac.1424+3G>T (n.1424+3G>T)
dbSNP gnomAD v4
12g.52488325C=CA2036520296KRT6Ac.1424+3G= (n.1424+3G=)
12g.52488325C>TCA6581860KRT6Ac.1424+3G>A (n.1424+3G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488326A>CCA384953240KRT6Ac.1424+2T>G (n.1424+2T>G)
12g.52488326A>GCA384953241KRT6Ac.1424+2T>C (n.1424+2T>C)
12g.52488326A>TCA384953242KRT6Ac.1424+2T>A (n.1424+2T>A)
12g.52488327C>ACA384953243KRT6Ac.1424+1G>T (n.1424+1G>T)
dbSNP
12g.52488327C=CA2036520298KRT6Ac.1424+1G= (n.1424+1G=)
12g.52488327C>GCA384953244KRT6Ac.1424+1G>C (n.1424+1G>C)
12g.52488327C>TCA384953245KRT6Ac.1424+1G>A (n.1424+1G>A)
gnomAD v3 gnomAD v4
12g.52488328C>ACA384953246KRT6Ac.1424G>T (p.Arg475Met)
dbSNP COSMIC
12g.52488328C=CA2036520299KRT6Ac.1424G= (p.Arg475=)
12g.52488328C>GCA384953247KRT6Ac.1424G>C (p.Arg475Thr)
12g.52488328C>TCA384953248KRT6Ac.1424G>A (p.Arg475Lys)
12g.52488329T>ACA384953249KRT6Ac.1423A>T (p.Arg475Trp)
12g.52488329T>CCA384953250KRT6Ac.1423A>G (p.Arg475Gly)
12g.52488329T>GCA479853031KRT6Ac.1423A>C (p.Arg475=)
12g.52488330G>ACA479853032KRT6Ac.1422C>T (p.Cys474=)
12g.52488330G>CCA384953251KRT6Ac.1422C>G (p.Cys474Trp)
12g.52488330G>TCA384953252KRT6Ac.1422C>A (p.Cys474Ter)
gnomAD v4
12g.52488331C>ACA384953253KRT6Ac.1421G>T (p.Cys474Phe)
12g.52488331C>GCA384953254KRT6Ac.1421G>C (p.Cys474Ser)
12g.52488331C>TCA384953255KRT6Ac.1421G>A (p.Cys474Tyr)
12g.52488332A=CA2036520300KRT6Ac.1420T= (p.Cys474=)
12g.52488332A>CCA384953256KRT6Ac.1420T>G (p.Cys474Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52488332A>GCA384953257KRT6Ac.1420T>C (p.Cys474Arg)
gnomAD v4
12g.52488332A>TCA384953258KRT6Ac.1420T>A (p.Cys474Ser)
12g.52488333C>ACA384953259KRT6Ac.1419G>T (p.Glu473Asp)
12g.52488333C>GCA384953261KRT6Ac.1419G>C (p.Glu473Asp)
12g.52488333C>TCA479853033KRT6Ac.1419G>A (p.Glu473=)
12g.52488334T>ACA384953264KRT6Ac.1418A>T (p.Glu473Val)
12g.52488334T>CCA384953265KRT6Ac.1418A>G (p.Glu473Gly)
12g.52488334T>GCA384953268KRT6Ac.1418A>C (p.Glu473Ala)
12g.52488334dupCA2580086457KRT6Ac.1418dup (p.Cys474ValfsTer?)
ClinVar
12g.52488335C>ACA384953274KRT6Ac.1417G>T (p.Glu473Ter)
12g.52488335C>GCA384953270KRT6Ac.1417G>C (p.Glu473Gln)
12g.52488335C>TCA384953272KRT6Ac.1417G>A (p.Glu473Lys)
COSMIC
12g.52488336dupCA2695216973KRT6Ac.1417dup (p.Glu473GlyfsTer?)
12g.52488339_52488344delCA2695216972KRT6Ac.1412_1417del (p.Gly471_Glu472del)
12g.52488336C>ACA384953276KRT6Ac.1416G>T (p.Glu472Asp)
12g.52488336C=CA2036520301KRT6Ac.1416G= (p.Glu472=)
12g.52488336C>GCA217340KRT6Ac.1416G>C (p.Glu472Asp)
ClinVar dbSNP
12g.52488336C>TCA479853034KRT6Ac.1416G>A (p.Glu472=)
12g.52488337T>ACA384953279KRT6Ac.1415A>T (p.Glu472Val)
12g.52488337T>CCA384953281KRT6Ac.1415A>G (p.Glu472Gly)
12g.52488337T>GCA384953283KRT6Ac.1415A>C (p.Glu472Ala)
12g.52488338C>ACA384953285KRT6Ac.1414G>T (p.Glu472Ter)
12g.52488338C=CA2036520302KRT6Ac.1414G= (p.Glu472=)
12g.52488338C>GCA384953286KRT6Ac.1414G>C (p.Glu472Gln)
12g.52488338C>TCA124169KRT6Ac.1414G>A (p.Glu472Lys)
ClinVar dbSNP
12g.52488339A=CA2036520303KRT6Ac.1413T= (p.Gly471=)
12g.52488339A>CCA479853035KRT6Ac.1413T>G (p.Gly471=)
dbSNP
12g.52488339A>GCA6581861KRT6Ac.1413T>C (p.Gly471=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52488339A>TCA479853036KRT6Ac.1413T>A (p.Gly471=)
12g.52488340C>ACA384953291KRT6Ac.1412G>T (p.Gly471Val)
12g.52488340C=CA2036520304KRT6Ac.1412G= (p.Gly471=)
12g.52488340C>GCA384953292KRT6Ac.1412G>C (p.Gly471Ala)
12g.52488340C>TCA384953294KRT6Ac.1412G>A (p.Gly471Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52488341C>ACA6581862KRT6Ac.1411G>T (p.Gly471Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488341C=CA2036520305KRT6Ac.1411G= (p.Gly471=)
12g.52488341C>GCA384953298KRT6Ac.1411G>C (p.Gly471Arg)
12g.52488341C>TCA384953297KRT6Ac.1411G>A (p.Gly471Ser)
gnomAD v4
12g.52488342C>ACA384953301KRT6Ac.1410G>T (p.Glu470Asp)
12g.52488342C=CA2036520306KRT6Ac.1410G= (p.Glu470=)
12g.52488342C>GCA384953303KRT6Ac.1410G>C (p.Glu470Asp)
12g.52488342C>TCA6581863KRT6Ac.1410G>A (p.Glu470=)
dbSNP ExAC
12g.52488342_52488346delinsTACCCA2695216974KRT6Ac.1406_1410delinsGGTA (p.Leu469ArgfsTer2)
12g.52488343T>ACA384953304KRT6Ac.1409A>T (p.Glu470Val)
12g.52488343T>CCA384953306KRT6Ac.1409A>G (p.Glu470Gly)
12g.52488343T>GCA384953305KRT6Ac.1409A>C (p.Glu470Ala)
12g.52488344C>ACA384953308KRT6Ac.1408G>T (p.Glu470Ter)
12g.52488344C>GCA384953310KRT6Ac.1408G>C (p.Glu470Gln)
12g.52488344C>TCA384953312KRT6Ac.1408G>A (p.Glu470Lys)
gnomAD v4 COSMIC
12g.52488345C>ACA479853037KRT6Ac.1407G>T (p.Leu469=)
12g.52488345C=CA2036520307KRT6Ac.1407G= (p.Leu469=)
12g.52488345C>GCA479853038KRT6Ac.1407G>C (p.Leu469=)
12g.52488345C>TCA479853039KRT6Ac.1407G>A (p.Leu469=)
dbSNP gnomAD v3 gnomAD v4
12g.52488346A=CA2036520308KRT6Ac.1406T= (p.Leu469=)
12g.52488346A>CCA124170KRT6Ac.1406T>G (p.Leu469Arg)
ClinVar dbSNP
12g.52488346A>GCA170745KRT6Ac.1406T>C (p.Leu469Pro)
ClinVar dbSNP
12g.52488346A>TCA384953316KRT6Ac.1406T>A (p.Leu469Gln)
12g.52488347G>ACA6581864KRT6Ac.1405C>T (p.Leu469=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52488347G>CCA384953317KRT6Ac.1405C>G (p.Leu469Val)
12g.52488347G=CA2036520309KRT6Ac.1405C= (p.Leu469=)
12g.52488347G>TCA384953319KRT6Ac.1405C>A (p.Leu469Met)
12g.52488348C>ACA479853040KRT6Ac.1404G>T (p.Leu468=)
12g.52488348C>GCA479853041KRT6Ac.1404G>C (p.Leu468=)
12g.52488348C>TCA479853042KRT6Ac.1404G>A (p.Leu468=)
12g.52488349A=CA2036520310KRT6Ac.1403T= (p.Leu468=)
12g.52488349A>CCA384953321KRT6Ac.1403T>G (p.Leu468Arg)
12g.52488349A>GCA217339KRT6Ac.1403T>C (p.Leu468Pro)
ClinVar dbSNP
12g.52488349A>TCA217338KRT6Ac.1403T>A (p.Leu468Gln)
ClinVar dbSNP
12g.52488350G>ACA479853043KRT6Ac.1402C>T (p.Leu468=)
gnomAD v4
12g.52488350G>CCA384953325KRT6Ac.1402C>G (p.Leu468Val)
12g.52488350G>TCA384953327KRT6Ac.1402C>A (p.Leu468Met)
12g.52488350_52488351insGAAGAGCTATAAGCACTAAAGTGCGTCTGCTAGCTCTCA2795999528KRT6Ac.1401_1402insAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTC (p.Leu468ArgfsTer17)
12g.52488350_52488351insGAAGAGCTATAAGCACTAAAGTGCGTCTGCTAGCTCTCGGTCCCACAGTCCTCAGGCCCCA2795999529KRT6Ac.1401_1402insGGGCCTGAGGACTGTGGGACCGAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTC (p.Leu468GlyfsTer10)
12g.52488351C>ACA384953329KRT6Ac.1401G>T (p.Lys467Asn)
12g.52488351C>GCA384953331KRT6Ac.1401G>C (p.Lys467Asn)
12g.52488351C>TCA479853044KRT6Ac.1401G>A (p.Lys467=)
12g.52488352T>ACA384953333KRT6Ac.1400A>T (p.Lys467Met)
12g.52488352T>CCA384953334KRT6Ac.1400A>G (p.Lys467Arg)
12g.52488352T>GCA384953336KRT6Ac.1400A>C (p.Lys467Thr)
12g.52488353T>ACA384953338KRT6Ac.1399A>T (p.Lys467Ter)
12g.52488353T>CCA384953340KRT6Ac.1399A>G (p.Lys467Glu)
12g.52488353T>GCA384953341KRT6Ac.1399A>C (p.Lys467Gln)
12g.52488354G>ACA6581865KRT6Ac.1398C>T (p.Arg466=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52488354G>CCA479853046KRT6Ac.1398C>G (p.Arg466=)
12g.52488354G=CA2036520311KRT6Ac.1398C= (p.Arg466=)
12g.52488354G>TCA479853045KRT6Ac.1398C>A (p.Arg466=)
12g.52488355C>ACA384953344KRT6Ac.1397G>T (p.Arg466Leu)
dbSNP gnomAD v4
12g.52488355C=CA2036520312KRT6Ac.1397G= (p.Arg466=)
12g.52488355C>GCA384953345KRT6Ac.1397G>C (p.Arg466Pro)
12g.52488355C>TCA6581866KRT6Ac.1397G>A (p.Arg466His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488356G>ACA6581867KRT6Ac.1396C>T (p.Arg466Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488356G>CCA384953352KRT6Ac.1396C>G (p.Arg466Gly)
12g.52488356G=CA2036520313KRT6Ac.1396C= (p.Arg466=)
12g.52488356G>TCA384953350KRT6Ac.1396C>A (p.Arg466Ser)
gnomAD v4
12g.52488356_52488358dupCA2695216975KRT6Ac.1394_1396dup (p.Tyr465_Arg466insHis)
12g.52488359_52488362dupCA2618928177KRT6Ac.1393_1396dup (p.Arg466LeufsTer8)
gnomAD v4
12g.52488357G>ACA479853047KRT6Ac.1395C>T (p.Tyr465=)
dbSNP
12g.52488357G>CCA384953354KRT6Ac.1395C>G (p.Tyr465Ter)
12g.52488357G=CA2036520314KRT6Ac.1395C= (p.Tyr465=)
12g.52488357G>TCA384953356KRT6Ac.1395C>A (p.Tyr465Ter)
12g.52488358T>ACA384953358KRT6Ac.1394A>T (p.Tyr465Phe)
12g.52488358T>CCA217336KRT6Ac.1394A>G (p.Tyr465Cys)
ClinVar dbSNP
12g.52488358T>GCA384953360KRT6Ac.1394A>C (p.Tyr465Ser)
12g.52488358T=CA2036520315KRT6Ac.1394A= (p.Tyr465=)
12g.52488359A=CA2036520316KRT6Ac.1393T= (p.Tyr465=)
12g.52488359A>CCA384953362KRT6Ac.1393T>G (p.Tyr465Asp)
12g.52488359A>GCA217335KRT6Ac.1393T>C (p.Tyr465His)
ClinVar dbSNP
12g.52488359A>TCA384953364KRT6Ac.1393T>A (p.Tyr465Asn)
12g.52488360G>ACA479853048KRT6Ac.1392C>T (p.Thr464=)
12g.52488360G>CCA479853050KRT6Ac.1392C>G (p.Thr464=)
12g.52488360G>TCA479853049KRT6Ac.1392C>A (p.Thr464=)
12g.52488361G>ACA384953366KRT6Ac.1391C>T (p.Thr464Ile)
12g.52488361G>CCA384953368KRT6Ac.1391C>G (p.Thr464Ser)
12g.52488361G>TCA384953369KRT6Ac.1391C>A (p.Thr464Asn)
12g.52488362T>ACA384953375KRT6Ac.1390A>T (p.Thr464Ser)
12g.52488362T>CCA384953373KRT6Ac.1390A>G (p.Thr464Ala)
12g.52488362T>GCA217334KRT6Ac.1390A>C (p.Thr464Pro)
ClinVar dbSNP
12g.52488362T=CA2036520317KRT6Ac.1390A= (p.Thr464=)
12g.52488363G>ACA479853051KRT6Ac.1389C>T (p.Ala463=)
12g.52488363G>CCA479853052KRT6Ac.1389C>G (p.Ala463=)
12g.52488363G>TCA479853053KRT6Ac.1389C>A (p.Ala463=)
12g.52488364G>ACA384953378KRT6Ac.1388C>T (p.Ala463Val)
dbSNP gnomAD v3 gnomAD v4
12g.52488364G>CCA384953380KRT6Ac.1388C>G (p.Ala463Gly)
12g.52488364G=CA2036520318KRT6Ac.1388C= (p.Ala463=)
12g.52488364G>TCA384953382KRT6Ac.1388C>A (p.Ala463Asp)
12g.52488365C>ACA384953384KRT6Ac.1387G>T (p.Ala463Ser)
dbSNP gnomAD v3 gnomAD v4
12g.52488365C=CA2036520319KRT6Ac.1387G= (p.Ala463=)
12g.52488365C>GCA217333KRT6Ac.1387G>C (p.Ala463Pro)
ClinVar dbSNP
12g.52488365C>TCA384953386KRT6Ac.1387G>A (p.Ala463Thr)
dbSNP gnomAD v2 gnomAD v4
12g.52488366G>ACA6581868KRT6Ac.1386C>T (p.Ile462=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488366G>CCA384953389KRT6Ac.1386C>G (p.Ile462Met)
12g.52488366G=CA2036520320KRT6Ac.1386C= (p.Ile462=)
12g.52488366G>TCA6581869KRT6Ac.1386C>A (p.Ile462=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52488367A=CA2036520321KRT6Ac.1385T= (p.Ile462=)
12g.52488367A>CCA217332KRT6Ac.1385T>G (p.Ile462Ser)
ClinVar dbSNP
12g.52488367A>GCA384953392KRT6Ac.1385T>C (p.Ile462Thr)
12g.52488367A>TCA217331KRT6Ac.1385T>A (p.Ile462Asn)
ClinVar dbSNP
12g.52488368T>ACA384953398KRT6Ac.1384A>T (p.Ile462Phe)
12g.52488368T>CCA384953396KRT6Ac.1384A>G (p.Ile462Val)
12g.52488368T>GCA384953395KRT6Ac.1384A>C (p.Ile462Leu)
12g.52488369C>ACA384953399KRT6Ac.1383G>T (p.Glu461Asp)
12g.52488369C=CA2036520322KRT6Ac.1383G= (p.Glu461=)
12g.52488369C>GCA384953401KRT6Ac.1383G>C (p.Glu461Asp)
12g.52488369C>TCA479853054KRT6Ac.1383G>A (p.Glu461=)
dbSNP gnomAD v2 gnomAD v4
12g.52488370T>ACA384953403KRT6Ac.1382A>T (p.Glu461Val)
12g.52488370T>CCA384953405KRT6Ac.1382A>G (p.Glu461Gly)
12g.52488370T>GCA384953407KRT6Ac.1382A>C (p.Glu461Ala)
12g.52488371C>ACA384953408KRT6Ac.1381G>T (p.Glu461Ter)
ClinVar dbSNP
12g.52488371C=CA2036520323KRT6Ac.1381G= (p.Glu461=)
12g.52488371C>GCA217329KRT6Ac.1381G>C (p.Glu461Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.52488371C>TCA217327KRT6Ac.1381G>A (p.Glu461Lys)
ClinVar dbSNP
12g.52488372C>ACA479853055KRT6Ac.1380G>T (p.Val460=)
12g.52488372C=CA2036520324KRT6Ac.1380G= (p.Val460=)
12g.52488372C>GCA479853056KRT6Ac.1380G>C (p.Val460=)
12g.52488372C>TCA6581870KRT6Ac.1380G>A (p.Val460=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488373A>CCA384953411KRT6Ac.1379T>G (p.Val460Gly)
12g.52488373A>GCA384953412KRT6Ac.1379T>C (p.Val460Ala)
12g.52488373A>TCA384953414KRT6Ac.1379T>A (p.Val460Glu)
12g.52488374C>ACA237229150KRT6Ac.1378G>T (p.Val460Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52488374C=CA2036520325KRT6Ac.1378G= (p.Val460=)
12g.52488374C>GCA384953417KRT6Ac.1378G>C (p.Val460Leu)
gnomAD v4
12g.52488374C>TCA6581871KRT6Ac.1378G>A (p.Val460Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488375G>ACA6581872KRT6Ac.1377C>T (p.Asp459=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52488375G>CCA384953422KRT6Ac.1377C>G (p.Asp459Glu)
12g.52488375G=CA2036520326KRT6Ac.1377C= (p.Asp459=)
12g.52488375G>TCA384953421KRT6Ac.1377C>A (p.Asp459Glu)
gnomAD v4
12g.52488376T>ACA384953424KRT6Ac.1376A>T (p.Asp459Val)
12g.52488376T>CCA384953425KRT6Ac.1376A>G (p.Asp459Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52488376T>GCA384953426KRT6Ac.1376A>C (p.Asp459Ala)
gnomAD v4
12g.52488376T=CA2036520327KRT6Ac.1376A= (p.Asp459=)
12g.52488377C>ACA384953428KRT6Ac.1375G>T (p.Asp459Tyr)
12g.52488377C>GCA384953429KRT6Ac.1375G>C (p.Asp459His)
12g.52488377C>TCA384953432KRT6Ac.1375G>A (p.Asp459Asn)
12g.52488378C>ACA479853058KRT6Ac.1374G>T (p.Leu458=)
12g.52488378C=CA2036520328KRT6Ac.1374G= (p.Leu458=)
12g.52488378C>GCA479853059KRT6Ac.1374G>C (p.Leu458=)
gnomAD v4
12g.52488378C>TCA237229156KRT6Ac.1374G>A (p.Leu458=)
dbSNP
12g.52488379A>CCA384953434KRT6Ac.1373T>G (p.Leu458Arg)
12g.52488379A>GCA384953436KRT6Ac.1373T>C (p.Leu458Pro)
12g.52488379A>TCA384953437KRT6Ac.1373T>A (p.Leu458Gln)
12g.52488380G>ACA479853060KRT6Ac.1372C>T (p.Leu458=)
gnomAD v4
12g.52488380G>CCA384953439KRT6Ac.1372C>G (p.Leu458Val)
12g.52488380G>TCA384953441KRT6Ac.1372C>A (p.Leu458Met)
12g.52488381G>ACA479853061KRT6Ac.1371C>T (p.Ala457=)
12g.52488381G>CCA237229160KRT6Ac.1371C>G (p.Ala457=)
dbSNP gnomAD v2 gnomAD v4
12g.52488381G=CA2036520329KRT6Ac.1371C= (p.Ala457=)
12g.52488381G>TCA479853062KRT6Ac.1371C>A (p.Ala457=)
12g.52488382G>ACA384953444KRT6Ac.1370C>T (p.Ala457Val)
dbSNP gnomAD v2 gnomAD v4
12g.52488382G>CCA384953447KRT6Ac.1370C>G (p.Ala457Gly)
12g.52488382G=CA2036520330KRT6Ac.1370C= (p.Ala457=)
12g.52488382G>TCA384953445KRT6Ac.1370C>A (p.Ala457Asp)
12g.52488383C>ACA237229163KRT6Ac.1369G>T (p.Ala457Ser)
dbSNP gnomAD v3 gnomAD v4
12g.52488383C=CA2036520331KRT6Ac.1369G= (p.Ala457=)
12g.52488383C>GCA6581873KRT6Ac.1369G>C (p.Ala457Pro)
dbSNP ExAC gnomAD v4
12g.52488383C>TCA6581874KRT6Ac.1369G>A (p.Ala457Thr)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched