Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52651909_52651911dupCA2618946383KRT2c.237_239dup (p.Gly80_Gly81insGly)
gnomAD v4
12g.52651907C>ACA384944560KRT2c.236G>T (p.Gly79Val)
12g.52651907C=CA2036598410KRT2c.236G= (p.Gly79=)
12g.52651907C>GCA384944564KRT2c.236G>C (p.Gly79Ala)
12g.52651907C>TCA384944561KRT2c.236G>A (p.Gly79Glu)
dbSNP gnomAD v4
12g.52651908C>ACA384944568KRT2c.235G>T (p.Gly79Ter)
12g.52651908C=CA2036598411KRT2c.235G= (p.Gly79=)
12g.52651908C>GCA237244438KRT2c.235G>C (p.Gly79Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52651908C>TCA384944573KRT2c.235G>A (p.Gly79Arg)
12g.52651909T>ACA480073084KRT2c.234A>T (p.Gly78=)
12g.52651909T>CCA6585927KRT2c.234A>G (p.Gly78=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651909T>GCA480073086KRT2c.234A>C (p.Gly78=)
12g.52651909T=CA2036598413KRT2c.234A= (p.Gly78=)
12g.52651910C>ACA384944585KRT2c.233G>T (p.Gly78Val)
12g.52651910C=CA2036598416KRT2c.233G= (p.Gly78=)
12g.52651910C>GCA384944588KRT2c.233G>C (p.Gly78Ala)
12g.52651910C>TCA384944592KRT2c.233G>A (p.Gly78Glu)
dbSNP COSMIC
12g.52651911C>ACA384944599KRT2c.232G>T (p.Gly78Ter)
12g.52651911C=CA2036598418KRT2c.232G= (p.Gly78=)
12g.52651911C>GCA384944603KRT2c.232G>C (p.Gly78Arg)
12g.52651911C>TCA6585928KRT2c.232G>A (p.Gly78Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651912A>CCA480073087KRT2c.231T>G (p.Ala77=)
12g.52651912A>GCA480073088KRT2c.231T>C (p.Ala77=)
12g.52651912A>TCA480073089KRT2c.231T>A (p.Ala77=)
12g.52651913G>ACA384944623KRT2c.230C>T (p.Ala77Val)
dbSNP gnomAD v2 gnomAD v4
12g.52651913G>CCA384944627KRT2c.230C>G (p.Ala77Gly)
12g.52651913G=CA2036598420KRT2c.230C= (p.Ala77=)
12g.52651913G>TCA384944629KRT2c.230C>A (p.Ala77Asp)
12g.52651914C>ACA384944655KRT2c.229G>T (p.Ala77Ser)
gnomAD v4
12g.52651914C>GCA384944636KRT2c.229G>C (p.Ala77Pro)
gnomAD v4
12g.52651914C>TCA384944651KRT2c.229G>A (p.Ala77Thr)
gnomAD v4
12g.52651915C>ACA480073092KRT2c.228G>T (p.Val76=)
12g.52651915C>GCA480073093KRT2c.228G>C (p.Val76=)
12g.52651915C>TCA480073094KRT2c.228G>A (p.Val76=)
gnomAD v4
12g.52651916A=CA2036598422KRT2c.227T= (p.Val76=)
12g.52651916A>CCA384944660KRT2c.227T>G (p.Val76Gly)
12g.52651916A>GCA6585929KRT2c.227T>C (p.Val76Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651916A>TCA384944664KRT2c.227T>A (p.Val76Glu)
12g.52651917C>ACA384944666KRT2c.226G>T (p.Val76Leu)
12g.52651917C=CA2036598424KRT2c.226G= (p.Val76=)
12g.52651917C>GCA384944668KRT2c.226G>C (p.Val76Leu)
12g.52651917C>TCA384944670KRT2c.226G>A (p.Val76Met)
dbSNP gnomAD v4
12g.52651918A=CA2036598426KRT2c.225T= (p.Ser75=)
12g.52651918A>CCA384944674KRT2c.225T>G (p.Ser75Arg)
12g.52651918A>GCA6585930KRT2c.225T>C (p.Ser75=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651918A>TCA384944678KRT2c.225T>A (p.Ser75Arg)
12g.52651919C>ACA384944681KRT2c.224G>T (p.Ser75Ile)
12g.52651919C=CA2036598428KRT2c.224G= (p.Ser75=)
12g.52651919C>GCA384944688KRT2c.224G>C (p.Ser75Thr)
12g.52651919C>TCA384944690KRT2c.224G>A (p.Ser75Asn)
dbSNP gnomAD v2 gnomAD v4
12g.52651920T>ACA384944706KRT2c.223A>T (p.Ser75Cys)
12g.52651920T>CCA384944704KRT2c.223A>G (p.Ser75Gly)
12g.52651920T>GCA384944701KRT2c.223A>C (p.Ser75Arg)
12g.52651921A>CCA384944709KRT2c.222T>G (p.Ile74Met)
12g.52651921A>GCA480073098KRT2c.222T>C (p.Ile74=)
12g.52651921A>TCA480073099KRT2c.222T>A (p.Ile74=)
gnomAD v4
12g.52651922A>CCA384944715KRT2c.221T>G (p.Ile74Ser)
12g.52651922A>GCA384944713KRT2c.221T>C (p.Ile74Thr)
gnomAD v4
12g.52651922A>TCA384944717KRT2c.221T>A (p.Ile74Asn)
12g.52651923T>ACA384944719KRT2c.220A>T (p.Ile74Phe)
12g.52651923T>CCA384944723KRT2c.220A>G (p.Ile74Val)
dbSNP gnomAD v3 gnomAD v4
12g.52651923T>GCA384944720KRT2c.220A>C (p.Ile74Leu)
12g.52651923T=CA2036598430KRT2c.220A= (p.Ile74=)
12g.52651924G>ACA480073100KRT2c.219C>T (p.Ser73=)
12g.52651924G>CCA480073101KRT2c.219C>G (p.Ser73=)
12g.52651924G>TCA480073102KRT2c.219C>A (p.Ser73=)
12g.52651925G>ACA384944726KRT2c.218C>T (p.Ser73Phe)
12g.52651925G>CCA384944731KRT2c.218C>G (p.Ser73Cys)
12g.52651925G>TCA384944734KRT2c.218C>A (p.Ser73Tyr)
12g.52651926A>CCA384944742KRT2c.217T>G (p.Ser73Ala)
12g.52651926A>GCA384944744KRT2c.217T>C (p.Ser73Pro)
12g.52651926A>TCA384944748KRT2c.217T>A (p.Ser73Thr)
12g.52651927G>ACA480073105KRT2c.216C>T (p.Ile72=)
12g.52651927G>CCA384944750KRT2c.216C>G (p.Ile72Met)
12g.52651927G>TCA480073104KRT2c.216C>A (p.Ile72=)
12g.52651928A=CA2036598432KRT2c.215T= (p.Ile72=)
12g.52651928A>CCA384944760KRT2c.215T>G (p.Ile72Ser)
12g.52651928A>GCA384944754KRT2c.215T>C (p.Ile72Thr)
dbSNP gnomAD v4
12g.52651928A>TCA6585931KRT2c.215T>A (p.Ile72Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651929T>ACA384944766KRT2c.214A>T (p.Ile72Phe)
12g.52651929T>CCA384944767KRT2c.214A>G (p.Ile72Val)
12g.52651929T>GCA384944771KRT2c.214A>C (p.Ile72Leu)
12g.52651930G>ACA480073107KRT2c.213C>T (p.Ser71=)
12g.52651930G>CCA6585932KRT2c.213C>G (p.Ser71Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651930G=CA2036598434KRT2c.213C= (p.Ser71=)
12g.52651930G>TCA384944776KRT2c.213C>A (p.Ser71Arg)
12g.52651931C>ACA384944784KRT2c.212G>T (p.Ser71Ile)
gnomAD v4
12g.52651931C>GCA384944790KRT2c.212G>C (p.Ser71Thr)
12g.52651931C>TCA384944787KRT2c.212G>A (p.Ser71Asn)
gnomAD v4
12g.52651932T>ACA384944793KRT2c.211A>T (p.Ser71Cys)
12g.52651932T>CCA384944795KRT2c.211A>G (p.Ser71Gly)
gnomAD v4
12g.52651932T>GCA384944798KRT2c.211A>C (p.Ser71Arg)
12g.52651933C>ACA384944802KRT2c.210G>T (p.Lys70Asn)
12g.52651933C=CA2036598436KRT2c.210G= (p.Lys70=)
12g.52651933C>GCA384944805KRT2c.210G>C (p.Lys70Asn)
dbSNP
12g.52651933C>TCA480073111KRT2c.210G>A (p.Lys70=)
COSMIC
12g.52651934T>ACA384944810KRT2c.209A>T (p.Lys70Met)
12g.52651934T>CCA384944815KRT2c.209A>G (p.Lys70Arg)
12g.52651934T>GCA384944818KRT2c.209A>C (p.Lys70Thr)
12g.52651935T>ACA384944821KRT2c.208A>T (p.Lys70Ter)
12g.52651935T>CCA384944822KRT2c.208A>G (p.Lys70Glu)
dbSNP gnomAD v2 gnomAD v4
12g.52651935T>GCA384944828KRT2c.208A>C (p.Lys70Gln)
12g.52651935T=CA2036598438KRT2c.208A= (p.Lys70=)
12g.52651936G>ACA480073115KRT2c.207C>T (p.Thr69=)
12g.52651936G>CCA480073116KRT2c.207C>G (p.Thr69=)
12g.52651936G>TCA480073117KRT2c.207C>A (p.Thr69=)
12g.52651937G>ACA384944831KRT2c.206C>T (p.Thr69Ile)
12g.52651937G>CCA384944834KRT2c.206C>G (p.Thr69Ser)
ClinVar gnomAD v4
12g.52651937G>TCA384944832KRT2c.206C>A (p.Thr69Asn)
12g.52651938T>ACA384944836KRT2c.205A>T (p.Thr69Ser)
12g.52651938T>CCA384944838KRT2c.205A>G (p.Thr69Ala)
dbSNP gnomAD v4
12g.52651938T>GCA6585933KRT2c.205A>C (p.Thr69Pro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651938T=CA2036598440KRT2c.205A= (p.Thr69=)
12g.52651939C>ACA480073120KRT2c.204G>T (p.Gly68=)
12g.52651939C>GCA480073121KRT2c.204G>C (p.Gly68=)
12g.52651939C>TCA480073122KRT2c.204G>A (p.Gly68=)
gnomAD v4 COSMIC
12g.52651940C>ACA384944841KRT2c.203G>T (p.Gly68Val)
12g.52651940C=CA2036598442KRT2c.203G= (p.Gly68=)
12g.52651940C>GCA6585934KRT2c.203G>C (p.Gly68Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651940C>TCA384944857KRT2c.203G>A (p.Gly68Glu)
12g.52651941C>ACA384944865KRT2c.202G>T (p.Gly68Trp)
12g.52651941C=CA2036598445KRT2c.202G= (p.Gly68=)
12g.52651941C>GCA384944867KRT2c.202G>C (p.Gly68Arg)
12g.52651941C>TCA6585935KRT2c.202G>A (p.Gly68Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651942T>ACA237244486KRT2c.201A>T (p.Gly67=)
dbSNP
12g.52651942T>CCA480073126KRT2c.201A>G (p.Gly67=)
12g.52651942T>GCA480073127KRT2c.201A>C (p.Gly67=)
12g.52651942T=CA2036598446KRT2c.201A= (p.Gly67=)
12g.52651943C>ACA384944874KRT2c.200G>T (p.Gly67Val)
12g.52651943C=CA2036598448KRT2c.200G= (p.Gly67=)
12g.52651943C>GCA384944877KRT2c.200G>C (p.Gly67Ala)
12g.52651943C>TCA384944878KRT2c.200G>A (p.Gly67Glu)
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.52651944C>ACA384944881KRT2c.199G>T (p.Gly67Ter)
12g.52651944C>GCA384944887KRT2c.199G>C (p.Gly67Arg)
12g.52651944C>TCA384944883KRT2c.199G>A (p.Gly67Arg)
12g.52651945A=CA2036598450KRT2c.198T= (p.Leu66=)
12g.52651945A>CCA6585936KRT2c.198T>G (p.Leu66=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651945A>GCA480073128KRT2c.198T>C (p.Leu66=)
gnomAD v4
12g.52651945A>TCA480073129KRT2c.198T>A (p.Leu66=)
12g.52651946A=CA2036598452KRT2c.197T= (p.Leu66=)
12g.52651946A>CCA384944888KRT2c.197T>G (p.Leu66Arg)
12g.52651946A>GCA6585937KRT2c.197T>C (p.Leu66Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651946A>TCA384944896KRT2c.197T>A (p.Leu66His)
12g.52651947G>ACA384944903KRT2c.196C>T (p.Leu66Phe)
dbSNP gnomAD v3 gnomAD v4
12g.52651947G>CCA384944905KRT2c.196C>G (p.Leu66Val)
12g.52651947G=CA2036598454KRT2c.196C= (p.Leu66=)
12g.52651947G>TCA384944908KRT2c.196C>A (p.Leu66Ile)
12g.52651948G>ACA480073131KRT2c.195C>T (p.Gly65=)
dbSNP gnomAD v2
12g.52651948G>CCA480073133KRT2c.195C>G (p.Gly65=)
12g.52651948G=CA2036598456KRT2c.195C= (p.Gly65=)
12g.52651948G>TCA480073132KRT2c.195C>A (p.Gly65=)
12g.52651949C>ACA384944913KRT2c.194G>T (p.Gly65Val)
12g.52651949C>GCA384944917KRT2c.194G>C (p.Gly65Ala)
12g.52651949C>TCA384944920KRT2c.194G>A (p.Gly65Asp)
12g.52651950delCA2618946387KRT2c.194del (p.Gly65AlafsTer?)
gnomAD v4
12g.52651950C>ACA384944928KRT2c.193G>T (p.Gly65Cys)
12g.52651950C>GCA384944925KRT2c.193G>C (p.Gly65Arg)
12g.52651950C>TCA384944922KRT2c.193G>A (p.Gly65Ser)
12g.52651951A>CCA480073136KRT2c.192T>G (p.Val64=)
12g.52651951A>GCA480073137KRT2c.192T>C (p.Val64=)
12g.52651951A>TCA480073138KRT2c.192T>A (p.Val64=)
12g.52651952A=CA2036598458KRT2c.191T= (p.Val64=)
12g.52651952A>CCA384944938KRT2c.191T>G (p.Val64Gly)
12g.52651952A>GCA384944931KRT2c.191T>C (p.Val64Ala)
dbSNP gnomAD v2 gnomAD v4
12g.52651952A>TCA384944935KRT2c.191T>A (p.Val64Asp)
COSMIC
12g.52651953C>ACA384944951KRT2c.190G>T (p.Val64Phe)
12g.52651953C>GCA384944954KRT2c.190G>C (p.Val64Leu)
gnomAD v4
12g.52651953C>TCA384944959KRT2c.190G>A (p.Val64Ile)
12g.52651954A>CCA480073141KRT2c.189T>G (p.Leu63=)
12g.52651954A>GCA480073143KRT2c.189T>C (p.Leu63=)
gnomAD v4
12g.52651954A>TCA480073144KRT2c.189T>A (p.Leu63=)
12g.52651955A>CCA384944971KRT2c.188T>G (p.Leu63Arg)
12g.52651955A>GCA384944968KRT2c.188T>C (p.Leu63Pro)
12g.52651955A>TCA384944963KRT2c.188T>A (p.Leu63His)
12g.52651956G>ACA384944975KRT2c.187C>T (p.Leu63Phe)
12g.52651956G>CCA384944978KRT2c.187C>G (p.Leu63Val)
12g.52651956G>TCA384944981KRT2c.187C>A (p.Leu63Ile)
12g.52651957A=CA2036598460KRT2c.186T= (p.Ser62=)
12g.52651957A>CCA384944986KRT2c.186T>G (p.Ser62Arg)
gnomAD v4
12g.52651957A>GCA6585938KRT2c.186T>C (p.Ser62=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651957A>TCA384944991KRT2c.186T>A (p.Ser62Arg)
12g.52651958C>ACA384944995KRT2c.185G>T (p.Ser62Ile)
12g.52651958C=CA2036598461KRT2c.185G= (p.Ser62=)
12g.52651958C>GCA384944993KRT2c.185G>C (p.Ser62Thr)
12g.52651958C>TCA6585939KRT2c.185G>A (p.Ser62Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651959T>ACA384944998KRT2c.184A>T (p.Ser62Cys)
12g.52651959T>CCA384945005KRT2c.184A>G (p.Ser62Gly)
12g.52651959T>GCA384945006KRT2c.184A>C (p.Ser62Arg)
12g.52651960C>ACA480073149KRT2c.183G>T (p.Arg61=)
dbSNP gnomAD v2
12g.52651960C=CA2036598463KRT2c.183G= (p.Arg61=)
12g.52651960C>GCA480073151KRT2c.183G>C (p.Arg61=)
12g.52651960C>TCA480073150KRT2c.183G>A (p.Arg61=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52651961C>ACA384945008KRT2c.182G>T (p.Arg61Leu)
COSMIC
12g.52651961C=CA2036598465KRT2c.182G= (p.Arg61=)
12g.52651961C>GCA384945009KRT2c.182G>C (p.Arg61Pro)
12g.52651961C>TCA6585940KRT2c.182G>A (p.Arg61Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52651962G>ACA6585941KRT2c.181C>T (p.Arg61Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651962G>CCA384945018KRT2c.181C>G (p.Arg61Gly)
gnomAD v4
12g.52651962G=CA2036598466KRT2c.181C= (p.Arg61=)
12g.52651962G>TCA480073153KRT2c.181C>A (p.Arg61=)
12g.52651963A>CCA384945021KRT2c.180T>G (p.Ser60Arg)
12g.52651963A>GCA480073156KRT2c.180T>C (p.Ser60=)
12g.52651963A>TCA384945025KRT2c.180T>A (p.Ser60Arg)
12g.52651964C>ACA384945029KRT2c.179G>T (p.Ser60Ile)
12g.52651964C=CA2036598468KRT2c.179G= (p.Ser60=)
12g.52651964C>GCA384945030KRT2c.179G>C (p.Ser60Thr)
12g.52651964C>TCA6585942KRT2c.179G>A (p.Ser60Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651965T>ACA384945033KRT2c.178A>T (p.Ser60Cys)
dbSNP gnomAD v3 gnomAD v4
12g.52651965T>CCA384945042KRT2c.178A>G (p.Ser60Gly)
12g.52651965T>GCA384945037KRT2c.178A>C (p.Ser60Arg)
12g.52651965T=CA2036598470KRT2c.178A= (p.Ser60=)
12g.52651966G>ACA480073158KRT2c.177C>T (p.Gly59=)
12g.52651966G>CCA480073161KRT2c.177C>G (p.Gly59=)
12g.52651966G>TCA480073160KRT2c.177C>A (p.Gly59=)
12g.52651967C>ACA384945049KRT2c.176G>T (p.Gly59Val)
dbSNP gnomAD v2
12g.52651967C=CA2036598472KRT2c.176G= (p.Gly59=)
12g.52651967C>GCA384945052KRT2c.176G>C (p.Gly59Ala)
12g.52651967C>TCA384945059KRT2c.176G>A (p.Gly59Asp)
gnomAD v4
12g.52651968C>ACA384945063KRT2c.175G>T (p.Gly59Cys)
12g.52651968C=CA2036598473KRT2c.175G= (p.Gly59=)
12g.52651968C>GCA384945067KRT2c.175G>C (p.Gly59Arg)
12g.52651968C>TCA6585943KRT2c.175G>A (p.Gly59Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651969A>CCA384945074KRT2c.174T>G (p.Phe58Leu)
12g.52651969A>GCA480073165KRT2c.174T>C (p.Phe58=)
12g.52651969A>TCA384945077KRT2c.174T>A (p.Phe58Leu)
12g.52651970A>CCA384945082KRT2c.173T>G (p.Phe58Cys)
gnomAD v4
12g.52651970A>GCA384945086KRT2c.173T>C (p.Phe58Ser)
12g.52651970A>TCA384945091KRT2c.173T>A (p.Phe58Tyr)
12g.52651971A>CCA384945108KRT2c.172T>G (p.Phe58Val)
12g.52651971A>GCA384945106KRT2c.172T>C (p.Phe58Leu)
12g.52651971A>TCA384945099KRT2c.172T>A (p.Phe58Ile)
12g.52651972delCA2618946389KRT2c.171del (p.Phe58LeufsTer?)
gnomAD v4
12g.52651972G>ACA480073166KRT2c.171C>T (p.Gly57=)
dbSNP
12g.52651972G>CCA480073168KRT2c.171C>G (p.Gly57=)
dbSNP
12g.52651972G=CA2036598475KRT2c.171C= (p.Gly57=)
12g.52651972G>TCA480073170KRT2c.171C>A (p.Gly57=)
COSMIC
12g.52651975_52651977dupCA2618946388KRT2c.169_171dup (p.Gly57_Phe58insGly)
gnomAD v4
12g.52651973C>ACA384945114KRT2c.170G>T (p.Gly57Val)
12g.52651973C=CA2036598477KRT2c.170G= (p.Gly57=)
12g.52651973C>GCA384945117KRT2c.170G>C (p.Gly57Ala)
dbSNP gnomAD v2 gnomAD v4
12g.52651973C>TCA384945118KRT2c.170G>A (p.Gly57Asp)
dbSNP gnomAD v3 gnomAD v4
12g.52651974C>ACA384945119KRT2c.169G>T (p.Gly57Cys)
12g.52651974C=CA2036598479KRT2c.169G= (p.Gly57=)
12g.52651974C>GCA384945120KRT2c.169G>C (p.Gly57Arg)
12g.52651974C>TCA384945123KRT2c.169G>A (p.Gly57Ser)
dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.52651975G>ACA6585944KRT2c.168C>T (p.Gly56=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651975G>CCA480073172KRT2c.168C>G (p.Gly56=)
dbSNP gnomAD v3 gnomAD v4
12g.52651975G=CA1630855678KRT2c.168C= (p.Gly56=)
12g.52651975G>TCA480073174KRT2c.168C>A (p.Gly56=)
12g.52651976C>ACA384945130KRT2c.167G>T (p.Gly56Val)
12g.52651976C>GCA384945133KRT2c.167G>C (p.Gly56Ala)
12g.52651976C>TCA384945142KRT2c.167G>A (p.Gly56Asp)
gnomAD v4
12g.52651977C>ACA384945146KRT2c.166G>T (p.Gly56Cys)
12g.52651977C>GCA384945150KRT2c.166G>C (p.Gly56Arg)
12g.52651977C>TCA384945162KRT2c.166G>A (p.Gly56Ser)
12g.52651978T>ACA480073176KRT2c.165A>T (p.Gly55=)
12g.52651978T>CCA480073177KRT2c.165A>G (p.Gly55=)
12g.52651978T>GCA480073178KRT2c.165A>C (p.Gly55=)
12g.52651979C>ACA384945170KRT2c.164G>T (p.Gly55Val)
12g.52651979C>GCA384945177KRT2c.164G>C (p.Gly55Ala)
12g.52651979C>TCA384945167KRT2c.164G>A (p.Gly55Glu)
COSMIC
12g.52651980C>ACA384945179KRT2c.163G>T (p.Gly55Ter)
12g.52651980C>GCA384945183KRT2c.163G>C (p.Gly55Arg)
12g.52651980C>TCA384945180KRT2c.163G>A (p.Gly55Arg)
gnomAD v4
12g.52651981A>CCA480073182KRT2c.162T>G (p.Gly54=)
12g.52651981A>GCA480073183KRT2c.162T>C (p.Gly54=)
12g.52651981A>TCA480073184KRT2c.162T>A (p.Gly54=)
12g.52651982C>ACA384945189KRT2c.161G>T (p.Gly54Val)
12g.52651982C>GCA384945191KRT2c.161G>C (p.Gly54Ala)
12g.52651982C>TCA384945193KRT2c.161G>A (p.Gly54Asp)
12g.52651983C>ACA384945194KRT2c.160G>T (p.Gly54Cys)
dbSNP
12g.52651983C=CA2036598482KRT2c.160G= (p.Gly54=)
12g.52651983C>GCA237244560KRT2c.160G>C (p.Gly54Arg)
dbSNP gnomAD v3 gnomAD v4
12g.52651983C>TCA6585945KRT2c.160G>A (p.Gly54Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651984G>ACA6585946KRT2c.159C>T (p.Phe53=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651984G>CCA384945204KRT2c.159C>G (p.Phe53Leu)
12g.52651984G=CA2036598485KRT2c.159C= (p.Phe53=)
12g.52651984G>TCA6585947KRT2c.159C>A (p.Phe53Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651985A>CCA384945206KRT2c.158T>G (p.Phe53Cys)
12g.52651985A>GCA384945208KRT2c.158T>C (p.Phe53Ser)
12g.52651985A>TCA384945212KRT2c.158T>A (p.Phe53Tyr)
12g.52651986_52651987insACCACCACCTCCAAACA605241230KRT2c.158_159insTGGAGGTGGTGGTTT (p.Phe53_Gly54insGlyGlyGlyGlyPhe)
gnomAD v2
12g.52651986A>CCA384945218KRT2c.157T>G (p.Phe53Val)
12g.52651986A>GCA384945216KRT2c.157T>C (p.Phe53Leu)
gnomAD v4
12g.52651986A>TCA384945217KRT2c.157T>A (p.Phe53Ile)
12g.52651987G>ACA6585948KRT2c.156C>T (p.Gly52=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651987G>CCA480073189KRT2c.156C>G (p.Gly52=)
12g.52651987G=CA2036598487KRT2c.156C= (p.Gly52=)
12g.52651987G>TCA480073190KRT2c.156C>A (p.Gly52=)
gnomAD v4
12g.52651988C>ACA384945221KRT2c.155G>T (p.Gly52Val)
12g.52651988C=CA2036598491KRT2c.155G= (p.Gly52=)
12g.52651988C>GCA384945224KRT2c.155G>C (p.Gly52Ala)
gnomAD v4
12g.52651988C>TCA6585949KRT2c.155G>A (p.Gly52Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651992dupCA605241231KRT2c.155dup (p.Phe53LeufsTer23)
dbSNP gnomAD v2 gnomAD v4
12g.52651992delCA2618946390KRT2c.155del (p.Gly52AlafsTer?)
gnomAD v4
12g.52651989C>ACA384945229KRT2c.154G>T (p.Gly52Cys)
12g.52651989C>GCA384945230KRT2c.154G>C (p.Gly52Arg)
12g.52651989C>TCA384945231KRT2c.154G>A (p.Gly52Ser)
12g.52651990C>ACA480073191KRT2c.153G>T (p.Gly51=)
gnomAD v4
12g.52651990C>GCA480073192KRT2c.153G>C (p.Gly51=)
gnomAD v4
12g.52651990C>TCA480073193KRT2c.153G>A (p.Gly51=)
12g.52651990_52651993delinsCCCGCA2036598493KRT2c.150_153delinsCGGG (p.Gly50=)
12g.52651990_52651999delinsCCCGCCACCACA2036598494KRT2c.144_153delinsTGGTGGCGGG (p.Gly48=)
12g.52651991C>ACA384945233KRT2c.152G>T (p.Gly51Val)
12g.52651991C=CA2036598496KRT2c.152G= (p.Gly51=)
12g.52651991C>GCA384945236KRT2c.152G>C (p.Gly51Ala)
12g.52651991C>TCA384945238KRT2c.152G>A (p.Gly51Glu)
dbSNP gnomAD v2 gnomAD v4
12g.52651992_52651993insACCCA2618946391KRT2c.152_153insTGG (p.Gly51_Gly52insGly)
gnomAD v4
12g.52651993_52651995dupCA2036598497KRT2c.150_152dup (p.Gly51_Gly52insGly)
dbSNP gnomAD v4
12g.52651993_52651995delCA6585950KRT2c.150_152del (p.Gly51del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651993_52652001delCA689873384KRT2c.144_152del (p.Gly49_Gly51del)
dbSNP gnomAD v3 gnomAD v4
12g.52651992C>ACA384945245KRT2c.151G>T (p.Gly51Trp)
12g.52651992C=CA2036598500KRT2c.151G= (p.Gly51=)
12g.52651992C>GCA384945241KRT2c.151G>C (p.Gly51Arg)
12g.52651992C>TCA237244565KRT2c.151G>A (p.Gly51Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52651993G>ACA6585951KRT2c.150C>T (p.Gly50=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52651993G>CCA6585952KRT2c.150C>G (p.Gly50=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651993G=CA1630855679KRT2c.150C= (p.Gly50=)
12g.52651993G>TCA480073195KRT2c.150C>A (p.Gly50=)
dbSNP gnomAD v4
12g.52651994C>ACA384945251KRT2c.149G>T (p.Gly50Val)
gnomAD v4
12g.52651994C=CA2036598505KRT2c.149G= (p.Gly50=)
12g.52651994C>GCA384945253KRT2c.149G>C (p.Gly50Ala)
gnomAD v4
12g.52651994C>TCA384945256KRT2c.149G>A (p.Gly50Asp)
dbSNP gnomAD v2 gnomAD v4
12g.52652003_52652005dupCA6585953KRT2c.147_149dup (p.Gly50_Gly51insGly)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651995C>ACA384945270KRT2c.148G>T (p.Gly50Cys)
12g.52651995C=CA2036598507KRT2c.148G= (p.Gly50=)
12g.52651995C>GCA384945260KRT2c.148G>C (p.Gly50Arg)
12g.52651995C>TCA6585954KRT2c.148G>A (p.Gly50Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651996A>CCA480073197KRT2c.147T>G (p.Gly49=)
12g.52651996A>GCA480073198KRT2c.147T>C (p.Gly49=)
gnomAD v4
12g.52651996A>TCA480073199KRT2c.147T>A (p.Gly49=)
12g.52651997C>ACA384945277KRT2c.146G>T (p.Gly49Val)
12g.52651997C=CA2036598508KRT2c.146G= (p.Gly49=)
12g.52651997C>GCA384945279KRT2c.146G>C (p.Gly49Ala)
12g.52651997C>TCA6585955KRT2c.146G>A (p.Gly49Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651997_52651998insTGAAGCCGCTGCCA2618946396KRT2c.146_147insCAGCGGCTTCAG (p.Gly49_Gly50insSerGlyPheSer)
gnomAD v4
12g.52651998C>ACA384945284KRT2c.145G>T (p.Gly49Cys)
gnomAD v4
12g.52651998C=CA2036598510KRT2c.145G= (p.Gly49=)
12g.52651998C>GCA384945288KRT2c.145G>C (p.Gly49Arg)
12g.52651998C>TCA6585956KRT2c.145G>A (p.Gly49Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52651999A>CCA480073203KRT2c.144T>G (p.Gly48=)
12g.52651999A>GCA480073204KRT2c.144T>C (p.Gly48=)
12g.52651999A>TCA480073206KRT2c.144T>A (p.Gly48=)
12g.52652000C>ACA384945301KRT2c.143G>T (p.Gly48Val)
dbSNP
12g.52652000C=CA2036598513KRT2c.143G= (p.Gly48=)
12g.52652000C>GCA384945317KRT2c.143G>C (p.Gly48Ala)
12g.52652000C>TCA384945308KRT2c.143G>A (p.Gly48Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52652001C>ACA384945320KRT2c.142G>T (p.Gly48Cys)
gnomAD v4
12g.52652001C>GCA384945321KRT2c.142G>C (p.Gly48Arg)
12g.52652001C>TCA384945322KRT2c.142G>A (p.Gly48Ser)
12g.52652002A>CCA480073209KRT2c.141T>G (p.Gly47=)
12g.52652002A>GCA480073211KRT2c.141T>C (p.Gly47=)
12g.52652002A>TCA480073210KRT2c.141T>A (p.Gly47=)
gnomAD v4
12g.52652003C>ACA384945323KRT2c.140G>T (p.Gly47Val)
12g.52652003C=CA2036598515KRT2c.140G= (p.Gly47=)
12g.52652003C>GCA384945325KRT2c.140G>C (p.Gly47Ala)
gnomAD v4
12g.52652003C>TCA6585957KRT2c.140G>A (p.Gly47Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52652003_52652004insAACA2796002846KRT2c.139_140insTT (p.Gly47ValfsTer?)
12g.52652004C>ACA384945330KRT2c.139G>T (p.Gly47Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52652004C=CA2036598516KRT2c.139G= (p.Gly47=)
12g.52652004C>GCA384945333KRT2c.139G>C (p.Gly47Arg)
12g.52652004C>TCA384945335KRT2c.139G>A (p.Gly47Ser)
gnomAD v4
12g.52652005A>CCA384945341KRT2c.138T>G (p.His46Gln)
12g.52652005A>GCA480073214KRT2c.138T>C (p.His46=)
12g.52652005A>TCA384945355KRT2c.138T>A (p.His46Gln)
12g.52652006T>ACA384945359KRT2c.137A>T (p.His46Leu)
12g.52652006T>CCA6585958KRT2c.137A>G (p.His46Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52652006T>GCA384945358KRT2c.137A>C (p.His46Pro)
12g.52652006T=CA2036598519KRT2c.137A= (p.His46=)
12g.52652007G>ACA384945367KRT2c.136C>T (p.His46Tyr)
dbSNP gnomAD v2 gnomAD v4
12g.52652007G>CCA384945381KRT2c.136C>G (p.His46Asp)
12g.52652007G=CA2036598522KRT2c.136C= (p.His46=)
12g.52652007G>TCA384945389KRT2c.136C>A (p.His46Asn)
gnomAD v4

Number of alleles fetched