Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52451499delCA2795998579KRT6Bc.540+43del (n.540+43del)
12g.52451498_52451499delCA2618924939KRT6Bc.540+42_540+43del (n.540+42_540+43del)
gnomAD v4
12g.52451499G>ACA689838527KRT6Bc.540+40C>T (n.540+40C>T)
dbSNP
12g.52451499G=CA2036500500KRT6Bc.540+40C= (n.540+40C=)
12g.52451500A=CA2036500503KRT6Bc.540+39T= (n.540+39T=)
12g.52451500A>TCA2036500507KRT6Bc.540+39T>A (n.540+39T>A)
dbSNP gnomAD v4
12g.52451501C>ACA605068914KRT6Bc.540+38G>T (n.540+38G>T)
dbSNP gnomAD v2 gnomAD v4
12g.52451501C=CA2036500509KRT6Bc.540+38G= (n.540+38G=)
12g.52451501C>TCA2036500511KRT6Bc.540+38G>A (n.540+38G>A)
dbSNP gnomAD v4
12g.52451502C>ACA2618924941KRT6Bc.540+37G>T (n.540+37G>T)
gnomAD v4
12g.52451502C=CA2036500514KRT6Bc.540+37G= (n.540+37G=)
12g.52451502C>TCA605068915KRT6Bc.540+37G>A (n.540+37G>A)
dbSNP gnomAD v2 gnomAD v4
12g.52451503C>ACA605068916KRT6Bc.540+36G>T (n.540+36G>T)
dbSNP gnomAD v2
12g.52451503C=CA2036500516KRT6Bc.540+36G= (n.540+36G=)
12g.52451503C>TCA2618924942KRT6Bc.540+36G>A (n.540+36G>A)
gnomAD v4
12g.52451504T>CCA605068917KRT6Bc.540+35A>G (n.540+35A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451504T=CA2036500519KRT6Bc.540+35A= (n.540+35A=)
12g.52451505G>ACA2618924943KRT6Bc.540+34C>T (n.540+34C>T)
gnomAD v4
12g.52451507A=CA2036500521KRT6Bc.540+32T= (n.540+32T=)
12g.52451507A>GCA6580806KRT6Bc.540+32T>C (n.540+32T>C)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451507A>TCA947697747KRT6Bc.540+32T>A (n.540+32T>A)
dbSNP gnomAD v3 gnomAD v4
12g.52451508G=CA2036500523KRT6Bc.540+31C= (n.540+31C=)
12g.52451508G>TCA2036500524KRT6Bc.540+31C>A (n.540+31C>A)
dbSNP
12g.52451509T>ACA2618924944KRT6Bc.540+30A>T (n.540+30A>T)
gnomAD v4
12g.52451510G>ACA2618924945KRT6Bc.540+29C>T (n.540+29C>T)
gnomAD v4
12g.52451510G=CA2036500526KRT6Bc.540+29C= (n.540+29C=)
12g.52451510G>TCA2036500528KRT6Bc.540+29C>A (n.540+29C>A)
dbSNP
12g.52451511C>ACA605068918KRT6Bc.540+28G>T (n.540+28G>T)
dbSNP gnomAD v2 gnomAD v4
12g.52451511C=CA2036500531KRT6Bc.540+28G= (n.540+28G=)
12g.52451511C>TCA2036500534KRT6Bc.540+28G>A (n.540+28G>A)
dbSNP gnomAD v4
12g.52451512C>ACA2618924946KRT6Bc.540+27G>T (n.540+27G>T)
gnomAD v4
12g.52451512C=CA2036500536KRT6Bc.540+27G= (n.540+27G=)
12g.52451512C>TCA6580807KRT6Bc.540+27G>A (n.540+27G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451513C>ACA6580808KRT6Bc.540+26G>T (n.540+26G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451513C=CA2036500540KRT6Bc.540+26G= (n.540+26G=)
12g.52451513C>GCA605068919KRT6Bc.540+26G>C (n.540+26G>C)
dbSNP gnomAD v2 gnomAD v4
12g.52451513C>TCA6580809KRT6Bc.540+26G>A (n.540+26G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451514G>ACA947697750KRT6Bc.540+25C>T (n.540+25C>T)
dbSNP gnomAD v3 gnomAD v4
12g.52451514G>CCA6580810KRT6Bc.540+25C>G (n.540+25C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451514G=CA2036500545KRT6Bc.540+25C= (n.540+25C=)
12g.52451514G>TCA2575164965KRT6Bc.540+25C>A (n.540+25C>A)
gnomAD v4
12g.52451515A=CA2036500551KRT6Bc.540+24T= (n.540+24T=)
12g.52451515A>GCA605068920KRT6Bc.540+24T>C (n.540+24T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451516T>CCA605068921KRT6Bc.540+23A>G (n.540+23A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451516T>GCA2795998580KRT6Bc.540+23A>C (n.540+23A>C)
12g.52451516T=CA2036500553KRT6Bc.540+23A= (n.540+23A=)
12g.52451517G>ACA237194606KRT6Bc.540+22C>T (n.540+22C>T)
dbSNP gnomAD v3 gnomAD v4
12g.52451517G=CA2036500556KRT6Bc.540+22C= (n.540+22C=)
12g.52451518G>CCA2618924947KRT6Bc.540+21C>G (n.540+21C>G)
gnomAD v4
12g.52451518G=CA2036500560KRT6Bc.540+21C= (n.540+21C=)
12g.52451518G>TCA2036500561KRT6Bc.540+21C>A (n.540+21C>A)
dbSNP gnomAD v4
12g.52451520G>ACA2618924948KRT6Bc.540+19C>T (n.540+19C>T)
gnomAD v4
12g.52451520G=CA2036500564KRT6Bc.540+19C= (n.540+19C=)
12g.52451520G>TCA2036500565KRT6Bc.540+19C>A (n.540+19C>A)
dbSNP gnomAD v4
12g.52451522G>ACA6580812KRT6Bc.540+17C>T (n.540+17C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451522G=CA2036500567KRT6Bc.540+17C= (n.540+17C=)
12g.52451522G>TCA6580811KRT6Bc.540+17C>A (n.540+17C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451523C>ACA689838565KRT6Bc.540+16G>T (n.540+16G>T)
dbSNP gnomAD v3 gnomAD v4
12g.52451523C=CA2036500574KRT6Bc.540+16G= (n.540+16G=)
12g.52451523C>TCA947697753KRT6Bc.540+16G>A (n.540+16G>A)
dbSNP gnomAD v3 gnomAD v4
12g.52451524A>CCA947697756KRT6Bc.540+15T>G (n.540+15T>G)
gnomAD v3 gnomAD v4
12g.52451524A>GCA2618924949KRT6Bc.540+15T>C (n.540+15T>C)
gnomAD v4
12g.52451524A>TCA2618924950KRT6Bc.540+15T>A (n.540+15T>A)
gnomAD v4
12g.52451525T>CCA2618924951KRT6Bc.540+14A>G (n.540+14A>G)
gnomAD v4
12g.52451526G>ACA689838566KRT6Bc.540+13C>T (n.540+13C>T)
dbSNP gnomAD v3 gnomAD v4
12g.52451526G=CA2036500577KRT6Bc.540+13C= (n.540+13C=)
12g.52451527G>ACA2501563308KRT6Bc.540+12C>T (n.540+12C>T)
gnomAD v4
12g.52451528C=CA2036500579KRT6Bc.540+11G= (n.540+11G=)
12g.52451528C>TCA605068922KRT6Bc.540+11G>A (n.540+11G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451529A>GCA2520358288KRT6Bc.540+10T>C (n.540+10T>C)
12g.52451530C>GCA2575164966KRT6Bc.540+9G>C (n.540+9G>C)
12g.52451530C>TCA2618924952KRT6Bc.540+9G>A (n.540+9G>A)
gnomAD v4
12g.52451531T>CCA2575164967KRT6Bc.540+8A>G (n.540+8A>G)
gnomAD v4
12g.52451532G>ACA2618924953KRT6Bc.540+7C>T (n.540+7C>T)
gnomAD v4
12g.52451533G>ACA605068923KRT6Bc.540+6C>T (n.540+6C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451533G=CA2036500583KRT6Bc.540+6C= (n.540+6C=)
12g.52451534C=CA2036500585KRT6Bc.540+5G= (n.540+5G=)
12g.52451534C>TCA6580813KRT6Bc.540+5G>A (n.540+5G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451536C=CA2036500589KRT6Bc.540+3G= (n.540+3G=)
12g.52451536C>TCA6580814KRT6Bc.540+3G>A (n.540+3G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451537A>CCA384926143KRT6Bc.540+2T>G (n.540+2T>G)
12g.52451537A>GCA384926145KRT6Bc.540+2T>C (n.540+2T>C)
12g.52451537A>TCA384926147KRT6Bc.540+2T>A (n.540+2T>A)
12g.52451538C>ACA384926149KRT6Bc.540+1G>T (n.540+1G>T)
12g.52451538C>GCA384926150KRT6Bc.540+1G>C (n.540+1G>C)
12g.52451538C>TCA384926152KRT6Bc.540+1G>A (n.540+1G>A)
gnomAD v4
12g.52451539C>ACA384926154KRT6Bc.540G>T (p.Lys180Asn)
12g.52451539C>GCA384926156KRT6Bc.540G>C (p.Lys180Asn)
12g.52451539C>TCA479848092KRT6Bc.540G>A (p.Lys180=)
12g.52451540T>ACA384926157KRT6Bc.539A>T (p.Lys180Met)
12g.52451540T>CCA384926159KRT6Bc.539A>G (p.Lys180Arg)
12g.52451540T>GCA384926161KRT6Bc.539A>C (p.Lys180Thr)
12g.52451541T>ACA384926167KRT6Bc.538A>T (p.Lys180Ter)
12g.52451541T>CCA384926165KRT6Bc.538A>G (p.Lys180Glu)
12g.52451541T>GCA384926163KRT6Bc.538A>C (p.Lys180Gln)
gnomAD v4
12g.52451542G>ACA6580815KRT6Bc.537C>T (p.Asp179=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451542G>CCA384926170KRT6Bc.537C>G (p.Asp179Glu)
gnomAD v4
12g.52451542G=CA2036500593KRT6Bc.537C= (p.Asp179=)
12g.52451542G>TCA384926169KRT6Bc.537C>A (p.Asp179Glu)
12g.52451543T>ACA384926173KRT6Bc.536A>T (p.Asp179Val)
12g.52451543T>CCA384926175KRT6Bc.536A>G (p.Asp179Gly)
12g.52451543T>GCA384926176KRT6Bc.536A>C (p.Asp179Ala)
12g.52451544C>ACA384926179KRT6Bc.535G>T (p.Asp179Tyr)
12g.52451544C=CA2036500597KRT6Bc.535G= (p.Asp179=)
12g.52451544C>GCA384926180KRT6Bc.535G>C (p.Asp179His)
12g.52451544C>TCA384926182KRT6Bc.535G>A (p.Asp179Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451545G>ACA6580816KRT6Bc.534C>T (p.Ile178=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52451545G>CCA384926185KRT6Bc.534C>G (p.Ile178Met)
12g.52451545G=CA2036500598KRT6Bc.534C= (p.Ile178=)
12g.52451545G>TCA479848096KRT6Bc.534C>A (p.Ile178=)
12g.52451546A=CA2036500605KRT6Bc.533T= (p.Ile178=)
12g.52451546A>CCA384926187KRT6Bc.533T>G (p.Ile178Ser)
12g.52451546A>GCA384926189KRT6Bc.533T>C (p.Ile178Thr)
12g.52451546A>TCA384926191KRT6Bc.533T>A (p.Ile178Asn)
ClinVar dbSNP
12g.52451547T>ACA384926196KRT6Bc.532A>T (p.Ile178Phe)
12g.52451547T>CCA384926193KRT6Bc.532A>G (p.Ile178Val)
dbSNP gnomAD v2 gnomAD v4
12g.52451547T>GCA384926194KRT6Bc.532A>C (p.Ile178Leu)
dbSNP gnomAD v3 gnomAD v4
12g.52451547T=CA2036500613KRT6Bc.532A= (p.Ile178=)
12g.52451548G>ACA479848098KRT6Bc.531C>T (p.Phe177=)
12g.52451548G>CCA384926198KRT6Bc.531C>G (p.Phe177Leu)
12g.52451548G>TCA384926199KRT6Bc.531C>A (p.Phe177Leu)
12g.52451549_52451551delCA2505635557KRT6Bc.529_531del (p.Phe177del)
12g.52451549A>CCA384926202KRT6Bc.530T>G (p.Phe177Cys)
12g.52451549A>GCA384926204KRT6Bc.530T>C (p.Phe177Ser)
12g.52451549A>TCA384926206KRT6Bc.530T>A (p.Phe177Tyr)
12g.52451550A=CA2036500615KRT6Bc.529T= (p.Phe177=)
12g.52451550A>CCA384926211KRT6Bc.529T>G (p.Phe177Val)
dbSNP gnomAD v4
12g.52451550A>GCA384926212KRT6Bc.529T>C (p.Phe177Leu)
12g.52451550A>TCA384926214KRT6Bc.529T>A (p.Phe177Ile)
12g.52451551G>ACA479848100KRT6Bc.528C>T (p.Ser176=)
12g.52451551G>CCA479848102KRT6Bc.528C>G (p.Ser176=)
12g.52451551G>TCA479848101KRT6Bc.528C>A (p.Ser176=)
12g.52451552G>ACA384926217KRT6Bc.527C>T (p.Ser176Phe)
gnomAD v4
12g.52451552G>CCA384926218KRT6Bc.527C>G (p.Ser176Cys)
12g.52451552G>TCA384926219KRT6Bc.527C>A (p.Ser176Tyr)
12g.52451553A>CCA384926222KRT6Bc.526T>G (p.Ser176Ala)
12g.52451553A>GCA384926224KRT6Bc.526T>C (p.Ser176Pro)
12g.52451553A>TCA384926220KRT6Bc.526T>A (p.Ser176Thr)
12g.52451554G>ACA479848106KRT6Bc.525C>T (p.Ala175=)
dbSNP gnomAD v2 gnomAD v4
12g.52451554G>CCA479848107KRT6Bc.525C>G (p.Ala175=)
12g.52451554G=CA2036500619KRT6Bc.525C= (p.Ala175=)
12g.52451554G>TCA479848108KRT6Bc.525C>A (p.Ala175=)
12g.52451555G>ACA384926226KRT6Bc.524C>T (p.Ala175Val)
12g.52451555G>CCA384926227KRT6Bc.524C>G (p.Ala175Gly)
12g.52451555G>TCA384926228KRT6Bc.524C>A (p.Ala175Asp)
12g.52451556C>ACA384926229KRT6Bc.523G>T (p.Ala175Ser)
gnomAD v4
12g.52451556C=CA2036500624KRT6Bc.523G= (p.Ala175=)
12g.52451556C>GCA384926230KRT6Bc.523G>C (p.Ala175Pro)
12g.52451556C>TCA6580817KRT6Bc.523G>A (p.Ala175Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451557A>CCA384926235KRT6Bc.522T>G (p.Phe174Leu)
12g.52451557A>GCA479848112KRT6Bc.522T>C (p.Phe174=)
gnomAD v4
12g.52451557A>TCA384926233KRT6Bc.522T>A (p.Phe174Leu)
12g.52451558A>CCA384926237KRT6Bc.521T>G (p.Phe174Cys)
12g.52451558A>GCA384926239KRT6Bc.521T>C (p.Phe174Ser)
12g.52451558A>TCA384926241KRT6Bc.521T>A (p.Phe174Tyr)
12g.52451559A>CCA384926243KRT6Bc.520T>G (p.Phe174Val)
12g.52451559A>GCA384926245KRT6Bc.520T>C (p.Phe174Leu)
12g.52451559A>TCA384926247KRT6Bc.520T>A (p.Phe174Ile)
12g.52451560C>ACA384926249KRT6Bc.519G>T (p.Lys173Asn)
12g.52451560C=CA2036500625KRT6Bc.519G= (p.Lys173=)
12g.52451560C>GCA384926252KRT6Bc.519G>C (p.Lys173Asn)
dbSNP gnomAD v4
12g.52451560C>TCA237194666KRT6Bc.519G>A (p.Lys173=)
dbSNP gnomAD v2 gnomAD v4
12g.52451560_52451563delinsCTTGCA2036500627KRT6Bc.516_519delinsCAAG (p.Asn172=)
12g.52451561T>ACA384926254KRT6Bc.518A>T (p.Lys173Met)
12g.52451561T>CCA384926257KRT6Bc.518A>G (p.Lys173Arg)
12g.52451561T>GCA384926259KRT6Bc.518A>C (p.Lys173Thr)
gnomAD v4
12g.52451567_52451569delCA217368KRT6Bc.516_518del (p.Asn172del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451562T>ACA384926261KRT6Bc.517A>T (p.Lys173Ter)
12g.52451562T>CCA384926263KRT6Bc.517A>G (p.Lys173Glu)
12g.52451562T>GCA384926265KRT6Bc.517A>C (p.Lys173Gln)
12g.52451563G>ACA479848117KRT6Bc.516C>T (p.Asn172=)
gnomAD v4
12g.52451563G>CCA384926267KRT6Bc.516C>G (p.Asn172Lys)
gnomAD v4
12g.52451563G>TCA384926269KRT6Bc.516C>A (p.Asn172Lys)
gnomAD v4
12g.52451564T>ACA384926271KRT6Bc.515A>T (p.Asn172Ile)
12g.52451564T>CCA384926272KRT6Bc.515A>G (p.Asn172Ser)
dbSNP gnomAD v2 gnomAD v4
12g.52451564T>GCA384926275KRT6Bc.515A>C (p.Asn172Thr)
12g.52451564T=CA2036500637KRT6Bc.515A= (p.Asn172=)
12g.52451565T>ACA384926276KRT6Bc.514A>T (p.Asn172Tyr)
12g.52451565T>CCA384926280KRT6Bc.514A>G (p.Asn172Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451565T>GCA384926278KRT6Bc.514A>C (p.Asn172His)
12g.52451565T=CA2036500640KRT6Bc.514A= (p.Asn172=)
12g.52451566G>ACA6580818KRT6Bc.513C>T (p.Asn171=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451566G>CCA384926285KRT6Bc.513C>G (p.Asn171Lys)
12g.52451566G=CA2036500643KRT6Bc.513C= (p.Asn171=)
12g.52451566G>TCA384926283KRT6Bc.513C>A (p.Asn171Lys)
12g.52451567T>ACA384926288KRT6Bc.512A>T (p.Asn171Ile)
12g.52451567T>CCA384926294KRT6Bc.512A>G (p.Asn171Ser)
gnomAD v4
12g.52451567T>GCA384926289KRT6Bc.512A>C (p.Asn171Thr)
12g.52451568dupCA2618924957KRT6Bc.512dup (p.Asn171LysfsTer?)
gnomAD v4
12g.52451568T>ACA384927014KRT6Bc.511A>T (p.Asn171Tyr)
12g.52451568T>CCA384927017KRT6Bc.511A>G (p.Asn171Asp)
dbSNP gnomAD v2
12g.52451568T>GCA384927020KRT6Bc.511A>C (p.Asn171His)
12g.52451568T=CA2036500645KRT6Bc.511A= (p.Asn171=)
12g.52451569G>ACA480067943KRT6Bc.510C>T (p.Leu170=)
12g.52451569G>CCA480067944KRT6Bc.510C>G (p.Leu170=)
12g.52451569G>TCA480067945KRT6Bc.510C>A (p.Leu170=)
12g.52451570A>CCA384927024KRT6Bc.509T>G (p.Leu170Arg)
12g.52451570A>GCA384927025KRT6Bc.509T>C (p.Leu170Pro)
gnomAD v4
12g.52451570A>TCA384927028KRT6Bc.509T>A (p.Leu170His)
12g.52451571G>ACA384927029KRT6Bc.508C>T (p.Leu170Phe)
gnomAD v4
12g.52451571G>CCA384927030KRT6Bc.508C>G (p.Leu170Val)
gnomAD v4
12g.52451571G>TCA384927031KRT6Bc.508C>A (p.Leu170Ile)
gnomAD v4 COSMIC
12g.52451572G>ACA480067947KRT6Bc.507C>T (p.Thr169=)
12g.52451572G>CCA6580819KRT6Bc.507C>G (p.Thr169=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451572G=CA2036500654KRT6Bc.507C= (p.Thr169=)
12g.52451572G>TCA480067948KRT6Bc.507C>A (p.Thr169=)
12g.52451573G>ACA384927034KRT6Bc.506C>T (p.Thr169Ile)
12g.52451573G>CCA384927036KRT6Bc.506C>G (p.Thr169Ser)
dbSNP gnomAD v4
12g.52451573G=CA2036500659KRT6Bc.506C= (p.Thr169=)
12g.52451573G>TCA384927038KRT6Bc.506C>A (p.Thr169Asn)
gnomAD v4
12g.52451574T>ACA384927045KRT6Bc.505A>T (p.Thr169Ser)
12g.52451574T>CCA384927041KRT6Bc.505A>G (p.Thr169Ala)
12g.52451574T>GCA384927043KRT6Bc.505A>C (p.Thr169Pro)
12g.52451575C>ACA384927047KRT6Bc.504G>T (p.Lys168Asn)
12g.52451575C>GCA384927049KRT6Bc.504G>C (p.Lys168Asn)
12g.52451575C>TCA480067951KRT6Bc.504G>A (p.Lys168=)
12g.52451576T>ACA384927052KRT6Bc.503A>T (p.Lys168Met)
12g.52451576T>CCA384927054KRT6Bc.503A>G (p.Lys168Arg)
gnomAD v4
12g.52451576T>GCA384927056KRT6Bc.503A>C (p.Lys168Thr)
12g.52451577T>ACA384927059KRT6Bc.502A>T (p.Lys168Ter)
12g.52451577T>CCA384927061KRT6Bc.502A>G (p.Lys168Glu)
gnomAD v4
12g.52451577T>GCA384927063KRT6Bc.502A>C (p.Lys168Gln)
gnomAD v4
12g.52451577_52451578delinsTGCA2036500662KRT6Bc.501_502delinsCA (p.Ile167=)
12g.52451578delCA605240416KRT6Bc.501del (p.Lys168ArgfsTer17)
dbSNP gnomAD v2 gnomAD v4
12g.52451578G>ACA480067955KRT6Bc.501C>T (p.Ile167=)
12g.52451578G>CCA384927065KRT6Bc.501C>G (p.Ile167Met)
gnomAD v4 COSMIC
12g.52451578G>TCA480067957KRT6Bc.501C>A (p.Ile167=)
12g.52451578_52451584dupCA912996275KRT6Bc.495_501dup (p.Lys168AlafsTer?)
12g.52451579A>CCA384927067KRT6Bc.500T>G (p.Ile167Ser)
12g.52451579A>GCA384927069KRT6Bc.500T>C (p.Ile167Thr)
12g.52451579A>TCA384927072KRT6Bc.500T>A (p.Ile167Asn)
12g.52451580T>ACA384927074KRT6Bc.499A>T (p.Ile167Phe)
12g.52451580T>CCA384927079KRT6Bc.499A>G (p.Ile167Val)
12g.52451580T>GCA384927077KRT6Bc.499A>C (p.Ile167Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52451580T=CA2036500669KRT6Bc.499A= (p.Ile167=)
12g.52451581C>ACA384927084KRT6Bc.498G>T (p.Gln166His)
12g.52451581C=CA2036500674KRT6Bc.498G= (p.Gln166=)
12g.52451581C>GCA384927085KRT6Bc.498G>C (p.Gln166His)
dbSNP gnomAD v2 gnomAD v4
12g.52451581C>TCA480067958KRT6Bc.498G>A (p.Gln166=)
dbSNP gnomAD v2 gnomAD v4
12g.52451582T>ACA384927086KRT6Bc.497A>T (p.Gln166Leu)
12g.52451582T>CCA384927087KRT6Bc.497A>G (p.Gln166Arg)
12g.52451582T>GCA384927088KRT6Bc.497A>C (p.Gln166Pro)
12g.52451583G>ACA384927091KRT6Bc.496C>T (p.Gln166Ter)
12g.52451583G>CCA384927092KRT6Bc.496C>G (p.Gln166Glu)
gnomAD v4
12g.52451583G>TCA384927094KRT6Bc.496C>A (p.Gln166Lys)
12g.52451583_52451584delinsGCCA2036500679KRT6Bc.495_496delinsGC (p.Glu165=)
12g.52451584delCA6580820KRT6Bc.495del (p.Glu165AspfsTer20)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451584C>ACA384927098KRT6Bc.495G>T (p.Glu165Asp)
12g.52451584C=CA2036500683KRT6Bc.495G= (p.Glu165=)
12g.52451584C>GCA384927100KRT6Bc.495G>C (p.Glu165Asp)
12g.52451584C>TCA6580821KRT6Bc.495G>A (p.Glu165=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451585delCA384927108KRT6Bc.494del (p.Glu165GlyfsTer20)
12g.52451585T>ACA384927111KRT6Bc.494A>T (p.Glu165Val)
12g.52451585T>CCA384927106KRT6Bc.494A>G (p.Glu165Gly)
gnomAD v4
12g.52451585T>GCA384927110KRT6Bc.494A>C (p.Glu165Ala)
12g.52451586C>ACA384927112KRT6Bc.493G>T (p.Glu165Ter)
12g.52451586C>GCA384927114KRT6Bc.493G>C (p.Glu165Gln)
12g.52451586C>TCA384927116KRT6Bc.493G>A (p.Glu165Lys)
gnomAD v4
12g.52451587A=CA2036500688KRT6Bc.492T= (p.Arg164=)
12g.52451587A>CCA480067962KRT6Bc.492T>G (p.Arg164=)
12g.52451587A>GCA480067963KRT6Bc.492T>C (p.Arg164=)
gnomAD v4
12g.52451587A>TCA6580822KRT6Bc.492T>A (p.Arg164=)
dbSNP ExAC gnomAD v3 gnomAD v4
12g.52451588delCA2618924978KRT6Bc.491del (p.Arg164LeufsTer21)
gnomAD v4
12g.52451588C>ACA384927120KRT6Bc.491G>T (p.Arg164Leu)
dbSNP gnomAD v2 gnomAD v4
12g.52451588C=CA2036500693KRT6Bc.491G= (p.Arg164=)
12g.52451588C>GCA384927122KRT6Bc.491G>C (p.Arg164Pro)
dbSNP gnomAD v3 gnomAD v4
12g.52451588C>TCA6580823KRT6Bc.491G>A (p.Arg164His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451589G>ACA6580824KRT6Bc.490C>T (p.Arg164Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451589G>CCA384927126KRT6Bc.490C>G (p.Arg164Gly)
gnomAD v4
12g.52451589G=CA2036500698KRT6Bc.490C= (p.Arg164=)
12g.52451589G>TCA6580825KRT6Bc.490C>A (p.Arg164Ser)
dbSNP ExAC gnomAD v2
12g.52451590C>ACA384927133KRT6Bc.489G>T (p.Glu163Asp)
12g.52451590C>GCA384927130KRT6Bc.489G>C (p.Glu163Asp)
12g.52451590C>TCA480067968KRT6Bc.489G>A (p.Glu163=)
gnomAD v4
12g.52451591T>ACA384927135KRT6Bc.488A>T (p.Glu163Val)
12g.52451591T>CCA384927137KRT6Bc.488A>G (p.Glu163Gly)
12g.52451591T>GCA384927140KRT6Bc.488A>C (p.Glu163Ala)
12g.52451592C>ACA384927142KRT6Bc.487G>T (p.Glu163Ter)
12g.52451592C>GCA384927145KRT6Bc.487G>C (p.Glu163Gln)
12g.52451592C>TCA384927147KRT6Bc.487G>A (p.Glu163Lys)
gnomAD v4 COSMIC
12g.52451593C>ACA384927150KRT6Bc.486G>T (p.Glu162Asp)
12g.52451593C=CA2036500704KRT6Bc.486G= (p.Glu162=)
12g.52451593C>GCA384927152KRT6Bc.486G>C (p.Glu162Asp)
12g.52451593C>TCA480067971KRT6Bc.486G>A (p.Glu162=)
dbSNP gnomAD v2 gnomAD v4
12g.52451594T>ACA384927155KRT6Bc.485A>T (p.Glu162Val)
12g.52451594T>CCA384927158KRT6Bc.485A>G (p.Glu162Gly)
12g.52451594T>GCA384927160KRT6Bc.485A>C (p.Glu162Ala)
12g.52451595C>ACA384927163KRT6Bc.484G>T (p.Glu162Ter)
gnomAD v4
12g.52451595C=CA2036500707KRT6Bc.484G= (p.Glu162=)
12g.52451595C>GCA384927165KRT6Bc.484G>C (p.Glu162Gln)
12g.52451595C>TCA6580826KRT6Bc.484G>A (p.Glu162Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52451596G>ACA6580827KRT6Bc.483C>T (p.Ala161=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52451596G>CCA480067975KRT6Bc.483C>G (p.Ala161=)
gnomAD v4
12g.52451596G=CA2036500712KRT6Bc.483C= (p.Ala161=)
12g.52451596G>TCA6580828KRT6Bc.483C>A (p.Ala161=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52451597G>ACA384927173KRT6Bc.482C>T (p.Ala161Val)
12g.52451597G>CCA384927176KRT6Bc.482C>G (p.Ala161Gly)
12g.52451597G>TCA384927178KRT6Bc.482C>A (p.Ala161Asp)
12g.52451598C>ACA384927181KRT6Bc.481G>T (p.Ala161Ser)
12g.52451598C=CA2036500719KRT6Bc.481G= (p.Ala161=)
12g.52451598C>GCA384927183KRT6Bc.481G>C (p.Ala161Pro)
12g.52451598C>TCA6580829KRT6Bc.481G>A (p.Ala161Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52451599C>ACA480067981KRT6Bc.480G>T (p.Arg160=)
12g.52451599C=CA2036500722KRT6Bc.480G= (p.Arg160=)
12g.52451599C>GCA480067982KRT6Bc.480G>C (p.Arg160=)
dbSNP
12g.52451599C>TCA480067983KRT6Bc.480G>A (p.Arg160=)
gnomAD v4

Number of alleles fetched