Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52571313T>ACA6583919KRT74c.843+46A>T (n.843+46A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52571313T>CCA605081598KRT74c.843+46A>G (n.843+46A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52571313T=CA2036556486KRT74c.843+46A= (n.843+46A=)
12g.52571314C=CA2036556490KRT74c.843+45G= (n.843+45G=)
12g.52571314C>TCA6583920KRT74c.843+45G>A (n.843+45G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52571315G>ACA6583921KRT74c.843+44C>T (n.843+44C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52571315G>CCA2618937917KRT74c.843+44C>G (n.843+44C>G)
gnomAD v4
12g.52571315G=CA2036556494KRT74c.843+44C= (n.843+44C=)
12g.52571315G>TCA6583922KRT74c.843+44C>A (n.843+44C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52571316G>ACA2618937918KRT74c.843+43C>T (n.843+43C>T)
gnomAD v4
12g.52571316G>CCA947703455KRT74c.843+43C>G (n.843+43C>G)
dbSNP gnomAD v3 gnomAD v4
12g.52571316G=CA2036556497KRT74c.843+43C= (n.843+43C=)
12g.52571320G>TCA2618937919KRT74c.843+39C>A (n.843+39C>A)
gnomAD v4
12g.52571322_52571323delinsAGCA2036556499KRT74c.843+36_843+37delinsCT (n.843+36_843+37delinsCT)
12g.52571323G>ACA605081602KRT74c.843+36C>T (n.843+36C>T)
dbSNP gnomAD v2 gnomAD v4
12g.52571323G=CA2036556502KRT74c.843+36C= (n.843+36C=)
12g.52571323G>TCA2618937920KRT74c.843+36C>A (n.843+36C>A)
gnomAD v4
12g.52571324delCA6583923KRT74c.843+36del (n.843+36del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52571324G>ACA6583924KRT74c.843+35C>T (n.843+35C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52571324G=CA2036556504KRT74c.843+35C= (n.843+35C=)
12g.52571324G>TCA2575165978KRT74c.843+35C>A (n.843+35C>A)
gnomAD v4
12g.52571325C>TCA2618937921KRT74c.843+34G>A (n.843+34G>A)
gnomAD v4
12g.52571327G>ACA6583925KRT74c.843+32C>T (n.843+32C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52571327G=CA2036556506KRT74c.843+32C= (n.843+32C=)
12g.52571328G>ACA6583926KRT74c.843+31C>T (n.843+31C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52571328G>CCA6583927KRT74c.843+31C>G (n.843+31C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52571328G=CA2036556511KRT74c.843+31C= (n.843+31C=)
12g.52571328G>TCA2575165979KRT74c.843+31C>A (n.843+31C>A)
gnomAD v4
12g.52571329G>TCA2575165980KRT74c.843+30C>A (n.843+30C>A)
gnomAD v4
12g.52571330T>ACA2618937922KRT74c.843+29A>T (n.843+29A>T)
gnomAD v4
12g.52571331G>ACA2618937923KRT74c.843+28C>T (n.843+28C>T)
gnomAD v4
12g.52571331G=CA2036556516KRT74c.843+28C= (n.843+28C=)
12g.52571331G>TCA2575165981KRT74c.843+28C>A (n.843+28C>A)
gnomAD v4
12g.52571331_52571332insTTCA237264776KRT74c.843+27_843+28insAA (n.843+27_843+28insAA)
dbSNP
12g.52571333G>ACA2575165982KRT74c.843+26C>T (n.843+26C>T)
12g.52571333G>CCA2036556521KRT74c.843+26C>G (n.843+26C>G)
dbSNP
12g.52571333G=CA2036556518KRT74c.843+26C= (n.843+26C=)
12g.52571333G>TCA2618937925KRT74c.843+26C>A (n.843+26C>A)
gnomAD v4
12g.52571335delCA2618937924KRT74c.843+26del (n.843+26del)
gnomAD v4
12g.52571334G=CA2036556523KRT74c.843+25C= (n.843+25C=)
12g.52571334G>TCA605081609KRT74c.843+25C>A (n.843+25C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52571335G>ACA605081610KRT74c.843+24C>T (n.843+24C>T)
dbSNP gnomAD v2 gnomAD v4
12g.52571335G=CA2036556525KRT74c.843+24C= (n.843+24C=)
12g.52571335G>TCA2575165983KRT74c.843+24C>A (n.843+24C>A)
gnomAD v4
12g.52571336T>ACA947703456KRT74c.843+23A>T (n.843+23A>T)
dbSNP gnomAD v3 gnomAD v4
12g.52571336T=CA2036556527KRT74c.843+23A= (n.843+23A=)
12g.52571336_52571337delinsTGCA2036556528KRT74c.843+22_843+23delinsCA (n.843+22_843+23delinsCA)
12g.52571337G>ACA2036556531KRT74c.843+22C>T (n.843+22C>T)
dbSNP gnomAD v4
12g.52571337G>CCA2618937926KRT74c.843+22C>G (n.843+22C>G)
gnomAD v4
12g.52571337G=CA2036556530KRT74c.843+22C= (n.843+22C=)
12g.52571337G>TCA2575165984KRT74c.843+22C>A (n.843+22C>A)
gnomAD v4
12g.52571342delCA919089033KRT74c.843+22del (n.843+22del)
dbSNP gnomAD v4
12g.52571338G>ACA605081612KRT74c.843+21C>T (n.843+21C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52571338G=CA2036556533KRT74c.843+21C= (n.843+21C=)
12g.52571338G>TCA2575165985KRT74c.843+21C>A (n.843+21C>A)
dbSNP gnomAD v4
12g.52571339G>ACA2618937927KRT74c.843+20C>T (n.843+20C>T)
gnomAD v4
12g.52571339G>CCA2618937928KRT74c.843+20C>G (n.843+20C>G)
gnomAD v4
12g.52571339G>TCA2575165986KRT74c.843+20C>A (n.843+20C>A)
gnomAD v4
12g.52571340G>ACA2796000995KRT74c.843+19C>T (n.843+19C>T)
12g.52571340G>TCA2618937929KRT74c.843+19C>A (n.843+19C>A)
gnomAD v4
12g.52571341G>ACA2036556536KRT74c.843+18C>T (n.843+18C>T)
dbSNP
12g.52571341G=CA2036556535KRT74c.843+18C= (n.843+18C=)
12g.52571341G>TCA237264791KRT74c.843+18C>A (n.843+18C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52571342G>ACA6583928KRT74c.843+17C>T (n.843+17C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52571342G=CA2036556539KRT74c.843+17C= (n.843+17C=)
12g.52571342G>TCA654742334KRT74c.843+17C>A (n.843+17C>A)
gnomAD v4 COSMIC
12g.52571344C=CA2036556541KRT74c.843+15G= (n.843+15G=)
12g.52571344C>GCA2036556542KRT74c.843+15G>C (n.843+15G>C)
dbSNP gnomAD v4
12g.52571344C>TCA2575165987KRT74c.843+15G>A (n.843+15G>A)
gnomAD v4
12g.52571346G>ACA2618937930KRT74c.843+13C>T (n.843+13C>T)
gnomAD v4
12g.52571346G>TCA2618937931KRT74c.843+13C>A (n.843+13C>A)
gnomAD v4
12g.52571347G>ACA605081614KRT74c.843+12C>T (n.843+12C>T)
dbSNP gnomAD v2 gnomAD v4
12g.52571347G=CA2036556547KRT74c.843+12C= (n.843+12C=)
12g.52571347G>TCA2036556545KRT74c.843+12C>A (n.843+12C>A)
dbSNP gnomAD v4
12g.52571348A>GCA2618937932KRT74c.843+11T>C (n.843+11T>C)
gnomAD v4
12g.52571349G>TCA2618937933KRT74c.843+10C>A (n.843+10C>A)
gnomAD v4
12g.52571351G>ACA2036556549KRT74c.843+8C>T (n.843+8C>T)
dbSNP gnomAD v4
12g.52571351G=CA2036556551KRT74c.843+8C= (n.843+8C=)
12g.52571351G>TCA2618937934KRT74c.843+8C>A (n.843+8C>A)
gnomAD v4
12g.52571352T>ACA2618937935KRT74c.843+7A>T (n.843+7A>T)
gnomAD v4
12g.52571352T>CCA6583929KRT74c.843+7A>G (n.843+7A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52571352T=CA2036556553KRT74c.843+7A= (n.843+7A=)
12g.52571354C>ACA2575165988KRT74c.843+5G>T (n.843+5G>T)
12g.52571354C=CA2036556555KRT74c.843+5G= (n.843+5G=)
12g.52571354C>TCA2036556556KRT74c.843+5G>A (n.843+5G>A)
dbSNP gnomAD v4
12g.52571356delCA2618937936KRT74c.843+4del (n.843+4del)
gnomAD v4
12g.52571356T>CCA2575165989KRT74c.843+3A>G (n.843+3A>G)
gnomAD v4
12g.52571357A>CCA384964468KRT74c.843+2T>G (n.843+2T>G)
12g.52571357A>GCA384964469KRT74c.843+2T>C (n.843+2T>C)
gnomAD v4
12g.52571357A>TCA384964470KRT74c.843+2T>A (n.843+2T>A)
12g.52571358C>ACA384964471KRT74c.843+1G>T (n.843+1G>T)
12g.52571358C>GCA384964472KRT74c.843+1G>C (n.843+1G>C)
12g.52571358C>TCA384964474KRT74c.843+1G>A (n.843+1G>A)
gnomAD v4
12g.52571359T>ACA479855719KRT74c.843A>T (p.Ala281=)
12g.52571359T>CCA479855720KRT74c.843A>G (p.Ala281=)
gnomAD v4
12g.52571359T>GCA479855721KRT74c.843A>C (p.Ala281=)
12g.52571360G>ACA6583931KRT74c.842C>T (p.Ala281Val)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52571360G>CCA384964477KRT74c.842C>G (p.Ala281Gly)
12g.52571360G=CA2036556558KRT74c.842C= (p.Ala281=)
12g.52571360G>TCA6583930KRT74c.842C>A (p.Ala281Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52571361C>ACA384964493KRT74c.841G>T (p.Ala281Ser)
dbSNP
12g.52571361C>GCA384964494KRT74c.841G>C (p.Ala281Pro)
12g.52571361C>TCA384964498KRT74c.841G>A (p.Ala281Thr)
gnomAD v4
12g.52571362A=CA2036556569KRT74c.840T= (p.Asp280=)
12g.52571362A>CCA237264818KRT74c.840T>G (p.Asp280Glu)
dbSNP gnomAD v3 gnomAD v4
12g.52571362A>GCA479855725KRT74c.840T>C (p.Asp280=)
gnomAD v4
12g.52571362A>TCA384964513KRT74c.840T>A (p.Asp280Glu)
12g.52571362_52571363delinsATCA2036556571KRT74c.839_840delinsAT (p.Asp280=)
12g.52571363delCA689867514KRT74c.839del (p.Asp280ValfsTer?)
dbSNP
12g.52571363T>ACA384964519KRT74c.839A>T (p.Asp280Val)
gnomAD v4
12g.52571363T>CCA384964527KRT74c.839A>G (p.Asp280Gly)
12g.52571363T>GCA384964522KRT74c.839A>C (p.Asp280Ala)
12g.52571364C>ACA384964528KRT74c.838G>T (p.Asp280Tyr)
12g.52571364C>GCA384964529KRT74c.838G>C (p.Asp280His)
12g.52571364C>TCA384964531KRT74c.838G>A (p.Asp280Asn)
12g.52571365A=CA2036556579KRT74c.837T= (p.Tyr279=)
12g.52571365A>CCA384964534KRT74c.837T>G (p.Tyr279Ter)
dbSNP gnomAD v2 gnomAD v4
12g.52571365A>GCA479855727KRT74c.837T>C (p.Tyr279=)
dbSNP
12g.52571365A>TCA384964544KRT74c.837T>A (p.Tyr279Ter)
12g.52571366T>ACA384964550KRT74c.836A>T (p.Tyr279Phe)
dbSNP gnomAD v4
12g.52571366T>CCA6583932KRT74c.836A>G (p.Tyr279Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52571366T>GCA384964553KRT74c.836A>C (p.Tyr279Ser)
12g.52571366T=CA2036556583KRT74c.836A= (p.Tyr279=)
12g.52571367A=CA2036556585KRT74c.835T= (p.Tyr279=)
12g.52571367A>CCA384964556KRT74c.835T>G (p.Tyr279Asp)
12g.52571367A>GCA384964559KRT74c.835T>C (p.Tyr279His)
dbSNP
12g.52571367A>TCA384964560KRT74c.835T>A (p.Tyr279Asn)
gnomAD v4
12g.52571368C>ACA479855731KRT74c.834G>T (p.Leu278=)
12g.52571368C>GCA479855732KRT74c.834G>C (p.Leu278=)
12g.52571368C>TCA479855733KRT74c.834G>A (p.Leu278=)
gnomAD v4
12g.52571369A=CA2036556588KRT74c.833T= (p.Leu278=)
12g.52571369A>CCA384964570KRT74c.833T>G (p.Leu278Arg)
12g.52571369A>GCA384964568KRT74c.833T>C (p.Leu278Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.52571369A>TCA384964566KRT74c.833T>A (p.Leu278Gln)
12g.52571370_52571371delCA2575165990KRT74c.832_833del (p.Leu278ValfsTer2)
12g.52571370G>ACA479855735KRT74c.832C>T (p.Leu278=)
gnomAD v4
12g.52571370G>CCA384964574KRT74c.832C>G (p.Leu278Val)
12g.52571370G>TCA384964577KRT74c.832C>A (p.Leu278Met)
gnomAD v4
12g.52571371A>CCA384964579KRT74c.831T>G (p.Cys277Trp)
12g.52571371A>GCA479855736KRT74c.831T>C (p.Cys277=)
gnomAD v4
12g.52571371A>TCA384964581KRT74c.831T>A (p.Cys277Ter)
12g.52571372C>ACA384964584KRT74c.830G>T (p.Cys277Phe)
12g.52571372C=CA2036556591KRT74c.830G= (p.Cys277=)
12g.52571372C>GCA384964587KRT74c.830G>C (p.Cys277Ser)
12g.52571372C>TCA384964589KRT74c.830G>A (p.Cys277Tyr)
dbSNP gnomAD v3 gnomAD v4
12g.52571373A=CA2036556592KRT74c.829T= (p.Cys277=)
12g.52571373A>CCA384964593KRT74c.829T>G (p.Cys277Gly)
12g.52571373A>GCA384964602KRT74c.829T>C (p.Cys277Arg)
dbSNP gnomAD v2 gnomAD v4
12g.52571373A>TCA384964605KRT74c.829T>A (p.Cys277Ser)
gnomAD v4
12g.52571373dupCA2575165991KRT74c.829dup (p.Cys277LeufsTer4)
12g.52571374C>ACA384964608KRT74c.828G>T (p.Lys276Asn)
12g.52571374C>GCA384964611KRT74c.828G>C (p.Lys276Asn)
12g.52571374C>TCA479855740KRT74c.828G>A (p.Lys276=)
12g.52571375T>ACA384964616KRT74c.827A>T (p.Lys276Met)
12g.52571375T>CCA237264827KRT74c.827A>G (p.Lys276Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52571375T>GCA384964613KRT74c.827A>C (p.Lys276Thr)
12g.52571375T=CA2036556594KRT74c.827A= (p.Lys276=)
12g.52571376delCA2575165992KRT74c.827del (p.Lys276SerfsTer?)
12g.52571376T>ACA384964619KRT74c.826A>T (p.Lys276Ter)
12g.52571376T>CCA384964622KRT74c.826A>G (p.Lys276Glu)
dbSNP
12g.52571376T>GCA384964625KRT74c.826A>C (p.Lys276Gln)
gnomAD v4
12g.52571376T=CA2036556598KRT74c.826A= (p.Lys276=)
12g.52571377delCA2618937937KRT74c.825del (p.Lys276SerfsTer?)
gnomAD v4
12g.52571377G>ACA479855764KRT74c.825C>T (p.Leu275=)
dbSNP gnomAD v4
12g.52571377G>CCA479855765KRT74c.825C>G (p.Leu275=)
12g.52571377G=CA2036556604KRT74c.825C= (p.Leu275=)
12g.52571377G>TCA479855766KRT74c.825C>A (p.Leu275=)
gnomAD v4
12g.52571378A>CCA384964627KRT74c.824T>G (p.Leu275Arg)
12g.52571378A>GCA384964628KRT74c.824T>C (p.Leu275Pro)
gnomAD v4
12g.52571378A>TCA384964634KRT74c.824T>A (p.Leu275His)
12g.52571379G>ACA384964640KRT74c.823C>T (p.Leu275Phe)
12g.52571379G>CCA384964636KRT74c.823C>G (p.Leu275Val)
12g.52571379G>TCA384964638KRT74c.823C>A (p.Leu275Ile)
12g.52571380G>ACA479855767KRT74c.822C>T (p.Phe274=)
12g.52571380G>CCA384964649KRT74c.822C>G (p.Phe274Leu)
12g.52571380G>TCA384964651KRT74c.822C>A (p.Phe274Leu)
12g.52571381A=CA2036556611KRT74c.821T= (p.Phe274=)
12g.52571381A>CCA384964653KRT74c.821T>G (p.Phe274Cys)
12g.52571381A>GCA163278KRT74c.821T>C (p.Phe274Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52571381A>TCA384964659KRT74c.821T>A (p.Phe274Tyr)
12g.52571382A=CA2036556617KRT74c.820T= (p.Phe274=)
12g.52571382A>CCA384964663KRT74c.820T>G (p.Phe274Val)
12g.52571382A>GCA6583933KRT74c.820T>C (p.Phe274Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52571382A>TCA384964665KRT74c.820T>A (p.Phe274Ile)
12g.52571383C>ACA384964669KRT74c.819G>T (p.Lys273Asn)
12g.52571383C=CA2036556620KRT74c.819G= (p.Lys273=)
12g.52571383C>GCA384964673KRT74c.819G>C (p.Lys273Asn)
12g.52571383C>TCA479855768KRT74c.819G>A (p.Lys273=)
gnomAD v4
12g.52571383_52571384insAACAAAATGAAAGATGCA2036556622KRT74c.818_819insCATCTTTCATTTTGTT (p.Lys273AsnfsTer13)
dbSNP
12g.52571384T>ACA384964682KRT74c.818A>T (p.Lys273Met)
gnomAD v4
12g.52571384T>CCA384964684KRT74c.818A>G (p.Lys273Arg)
dbSNP
12g.52571384T>GCA384964686KRT74c.818A>C (p.Lys273Thr)
dbSNP gnomAD v4
12g.52571384T=CA2036556623KRT74c.818A= (p.Lys273=)
12g.52571385T>ACA384964688KRT74c.817A>T (p.Lys273Ter)
12g.52571385T>CCA384964689KRT74c.817A>G (p.Lys273Glu)
gnomAD v4
12g.52571385T>GCA384964691KRT74c.817A>C (p.Lys273Gln)
12g.52571386G>ACA6583934KRT74c.816C>T (p.Ile272=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52571386G>CCA384964694KRT74c.816C>G (p.Ile272Met)
COSMIC
12g.52571386G=CA2036556629KRT74c.816C= (p.Ile272=)
12g.52571386G>TCA479855769KRT74c.816C>A (p.Ile272=)
gnomAD v4
12g.52571387A>CCA384964701KRT74c.815T>G (p.Ile272Ser)
12g.52571387A>GCA384964700KRT74c.815T>C (p.Ile272Thr)
12g.52571387A>TCA384964699KRT74c.815T>A (p.Ile272Asn)
12g.52571388T>ACA384964702KRT74c.814A>T (p.Ile272Phe)
12g.52571388T>CCA384964704KRT74c.814A>G (p.Ile272Val)
12g.52571388T>GCA384964703KRT74c.814A>C (p.Ile272Leu)
12g.52571389T>ACA6583936KRT74c.813A>T (p.Glu271Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52571389T>CCA479855770KRT74c.813A>G (p.Glu271=)
dbSNP
12g.52571389T>GCA6583935KRT74c.813A>C (p.Glu271Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52571389T=CA2036556633KRT74c.813A= (p.Glu271=)
12g.52571390T>ACA384964709KRT74c.812A>T (p.Glu271Val)
12g.52571390T>CCA6583937KRT74c.812A>G (p.Glu271Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52571390T>GCA384964710KRT74c.812A>C (p.Glu271Ala)
12g.52571390T=CA2036556640KRT74c.812A= (p.Glu271=)
12g.52571391C>ACA384964711KRT74c.811G>T (p.Glu271Ter)
dbSNP gnomAD v3 gnomAD v4
12g.52571391C=CA2036556648KRT74c.811G= (p.Glu271=)
12g.52571391C>GCA6583938KRT74c.811G>C (p.Glu271Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52571391C>TCA384964713KRT74c.811G>A (p.Glu271Lys)
12g.52571392T>ACA384964717KRT74c.810A>T (p.Lys270Asn)
12g.52571392T>CCA479855771KRT74c.810A>G (p.Lys270=)
12g.52571392T>GCA384964719KRT74c.810A>C (p.Lys270Asn)
12g.52571393T>ACA384964724KRT74c.809A>T (p.Lys270Ile)
12g.52571393T>CCA384964727KRT74c.809A>G (p.Lys270Arg)
12g.52571393T>GCA384964730KRT74c.809A>C (p.Lys270Thr)
gnomAD v4
12g.52571394T>ACA384964737KRT74c.808A>T (p.Lys270Ter)
12g.52571394T>CCA384964735KRT74c.808A>G (p.Lys270Glu)
gnomAD v4
12g.52571394T>GCA384964733KRT74c.808A>C (p.Lys270Gln)
12g.52571395G>ACA479855772KRT74c.807C>T (p.Asp269=)
12g.52571395G>CCA384964739KRT74c.807C>G (p.Asp269Glu)
12g.52571395G>TCA384964743KRT74c.807C>A (p.Asp269Glu)
12g.52571396T>ACA384964751KRT74c.806A>T (p.Asp269Val)
12g.52571396T>CCA384964754KRT74c.806A>G (p.Asp269Gly)
12g.52571396T>GCA384964757KRT74c.806A>C (p.Asp269Ala)
12g.52571397C>ACA384964762KRT74c.805G>T (p.Asp269Tyr)
12g.52571397C=CA2036556651KRT74c.805G= (p.Asp269=)
12g.52571397C>GCA384964765KRT74c.805G>C (p.Asp269His)
gnomAD v4
12g.52571397C>TCA237264841KRT74c.805G>A (p.Asp269Asn)
dbSNP
12g.52571398C>ACA479855773KRT74c.804G>T (p.Leu268=)
12g.52571398C=CA2036556656KRT74c.804G= (p.Leu268=)
12g.52571398C>GCA479855774KRT74c.804G>C (p.Leu268=)
12g.52571398C>TCA6583939KRT74c.804G>A (p.Leu268=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.52571399A=CA2036556659KRT74c.803T= (p.Leu268=)
12g.52571399A>CCA384964778KRT74c.803T>G (p.Leu268Arg)
dbSNP gnomAD v4
12g.52571399A>GCA384964780KRT74c.803T>C (p.Leu268Pro)
ClinVar gnomAD v4
12g.52571399A>TCA384964783KRT74c.803T>A (p.Leu268Gln)
12g.52571402_52571405delCA2569016318KRT74c.800_803del (p.Ser267TrpfsTer?)
12g.52571400G>ACA479855775KRT74c.802C>T (p.Leu268=)
gnomAD v4
12g.52571400G>CCA384964790KRT74c.802C>G (p.Leu268Val)
12g.52571400G=CA2036556662KRT74c.802C= (p.Leu268=)
12g.52571400G>TCA384964788KRT74c.802C>A (p.Leu268Met)
dbSNP gnomAD v4
12g.52571401T>ACA479855776KRT74c.801A>T (p.Ser267=)
12g.52571401T>CCA479855777KRT74c.801A>G (p.Ser267=)
dbSNP gnomAD v3 gnomAD v4
12g.52571401T>GCA479855778KRT74c.801A>C (p.Ser267=)
12g.52571401T=CA2036556663KRT74c.801A= (p.Ser267=)
12g.52571402G>ACA384964793KRT74c.800C>T (p.Ser267Leu)
12g.52571402G>CCA384964800KRT74c.800C>G (p.Ser267Ter)
gnomAD v4
12g.52571402G>TCA384964804KRT74c.800C>A (p.Ser267Ter)
12g.52571403A>CCA384964806KRT74c.799T>G (p.Ser267Ala)
12g.52571403A>GCA384964807KRT74c.799T>C (p.Ser267Pro)
12g.52571403A>TCA384964809KRT74c.799T>A (p.Ser267Thr)
12g.52571404G>ACA479855779KRT74c.798C>T (p.Asp266=)
12g.52571404G>CCA384964822KRT74c.798C>G (p.Asp266Glu)
12g.52571404G>TCA384964813KRT74c.798C>A (p.Asp266Glu)
12g.52571405T>ACA384964823KRT74c.797A>T (p.Asp266Val)
dbSNP
12g.52571405T>CCA384964826KRT74c.797A>G (p.Asp266Gly)
12g.52571405T>GCA384964828KRT74c.797A>C (p.Asp266Ala)
12g.52571405T=CA2036556666KRT74c.797A= (p.Asp266=)
12g.52571406C>ACA384964835KRT74c.796G>T (p.Asp266Tyr)
12g.52571406C>GCA384964837KRT74c.796G>C (p.Asp266His)
12g.52571406C>TCA384964840KRT74c.796G>A (p.Asp266Asn)
12g.52571407C>ACA479855780KRT74c.795G>T (p.Val265=)
12g.52571407C>GCA479855781KRT74c.795G>C (p.Val265=)
12g.52571407C>TCA479855782KRT74c.795G>A (p.Val265=)
12g.52571408A=CA2036556668KRT74c.794T= (p.Val265=)
12g.52571408A>CCA384964846KRT74c.794T>G (p.Val265Gly)
dbSNP gnomAD v2 gnomAD v4
12g.52571408A>GCA384964849KRT74c.794T>C (p.Val265Ala)
12g.52571408A>TCA384964848KRT74c.794T>A (p.Val265Glu)
12g.52571409C>ACA384964852KRT74c.793G>T (p.Val265Leu)
gnomAD v4
12g.52571409C>GCA384964854KRT74c.793G>C (p.Val265Leu)
12g.52571409C>TCA384964857KRT74c.793G>A (p.Val265Met)
12g.52571410T>ACA384964862KRT74c.792A>T (p.Lys264Asn)
12g.52571410T>CCA479855783KRT74c.792A>G (p.Lys264=)
12g.52571410T>GCA384964864KRT74c.792A>C (p.Lys264Asn)
12g.52571411T>ACA384964872KRT74c.791A>T (p.Lys264Ile)
12g.52571411T>CCA384964875KRT74c.791A>G (p.Lys264Arg)
12g.52571411T>GCA384964877KRT74c.791A>C (p.Lys264Thr)
12g.52571412T>ACA384964880KRT74c.790A>T (p.Lys264Ter)
12g.52571412T>CCA384964883KRT74c.790A>G (p.Lys264Glu)
12g.52571412T>GCA384964885KRT74c.790A>C (p.Lys264Gln)
12g.52571413G>ACA479855784KRT74c.789C>T (p.Ala263=)
12g.52571413G>CCA479855785KRT74c.789C>G (p.Ala263=)
12g.52571413G>TCA479855786KRT74c.789C>A (p.Ala263=)
gnomAD v4

Number of alleles fetched