Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.52306177A=CA2036432483KRT81,KRT86c.1144A= (p.Met382=)
c.1375A= (p.Met459=)
c.-212+2034T= (n.-212+2034T=)
12g.52306177A>CCA384919086KRT81,KRT86c.1144A>C (p.Met382Leu)
c.1375A>C (p.Met459Leu)
c.-212+2034T>G (n.-212+2034T>G)
12g.52306177A>GCA384919087KRT81,KRT86c.1144A>G (p.Met382Val)
c.1375A>G (p.Met459Val)
c.-212+2034T>C (n.-212+2034T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.52306177A>TCA384919088KRT81,KRT86c.1144A>T (p.Met382Leu)
c.1375A>T (p.Met459Leu)
c.-212+2034T>A (n.-212+2034T>A)
 gnomAD v4
12g.52306178T>ACA384919089KRT81,KRT86c.1145T>A (p.Met382Lys)
c.1376T>A (p.Met459Lys)
c.-212+2033A>T (n.-212+2033A>T)
12g.52306178T>CCA384919090KRT81,KRT86c.1145T>C (p.Met382Thr)
c.1376T>C (p.Met459Thr)
c.-212+2033A>G (n.-212+2033A>G)
 gnomAD v4
12g.52306178T>GCA6577089KRT81,KRT86c.1145T>G (p.Met382Arg)
c.1376T>G (p.Met459Arg)
c.-212+2033A>C (n.-212+2033A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306178T=CA2036432484KRT81,KRT86c.1145T= (p.Met382=)
c.1376T= (p.Met459=)
c.-212+2033A= (n.-212+2033A=)
12g.52306179G>ACA384919091KRT81,KRT86c.1146G>A (p.Met382Ile)
c.1377G>A (p.Met459Ile)
c.-212+2032C>T (n.-212+2032C>T)
 gnomAD v4
12g.52306179G>CCA384919093KRT81,KRT86c.1146G>C (p.Met382Ile)
c.1377G>C (p.Met459Ile)
c.-212+2032C>G (n.-212+2032C>G)
12g.52306179G>TCA384919092KRT81,KRT86c.1146G>T (p.Met382Ile)
c.1377G>T (p.Met459Ile)
c.-212+2032C>A (n.-212+2032C>A)
12g.52306180G>ACA384919094KRT81,KRT86c.1147G>A (p.Ala383Thr)
c.1378G>A (p.Ala460Thr)
c.-212+2031C>T (n.-212+2031C>T)
 dbSNP gnomAD v3 gnomAD v4
12g.52306180G>CCA384919095KRT81,KRT86c.1147G>C (p.Ala383Pro)
c.1378G>C (p.Ala460Pro)
c.-212+2031C>G (n.-212+2031C>G)
12g.52306180G=CA2036432485KRT81,KRT86c.1147G= (p.Ala383=)
c.1378G= (p.Ala460=)
c.-212+2031C= (n.-212+2031C=)
12g.52306180G>TCA384919096KRT81,KRT86c.1147G>T (p.Ala383Ser)
c.1378G>T (p.Ala460Ser)
c.-212+2031C>A (n.-212+2031C>A)
12g.52306181C>ACA384919097KRT81,KRT86c.1148C>A (p.Ala383Asp)
c.1379C>A (p.Ala460Asp)
c.-212+2030G>T (n.-212+2030G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.52306181C=CA2036432486KRT81,KRT86c.1148C= (p.Ala383=)
c.1379C= (p.Ala460=)
c.-212+2030G= (n.-212+2030G=)
12g.52306181C>GCA384919098KRT81,KRT86c.1148C>G (p.Ala383Gly)
c.1379C>G (p.Ala460Gly)
c.-212+2030G>C (n.-212+2030G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.52306181C>TCA384919099KRT81,KRT86c.1148C>T (p.Ala383Val)
c.1379C>T (p.Ala460Val)
c.-212+2030G>A (n.-212+2030G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.52306182C>ACA479841353KRT81,KRT86c.1149C>A (p.Ala383=)
c.1380C>A (p.Ala460=)
c.-212+2029G>T (n.-212+2029G>T)
12g.52306182C>GCA479841355KRT81,KRT86c.1149C>G (p.Ala383=)
c.1380C>G (p.Ala460=)
c.-212+2029G>C (n.-212+2029G>C)
12g.52306182C>TCA479841351KRT81,KRT86c.1149C>T (p.Ala383=)
c.1380C>T (p.Ala460=)
c.-212+2029G>A (n.-212+2029G>A)
12g.52306183_52306185dupCA605239794KRT81,KRT86c.1150_1152dup (p.Cys384_Leu385insCys)
c.1381_1383dup (p.Cys461_Leu462insCys)
c.-212+2027_-212+2029dup (n.-212+2027_-212+2029dup)
 dbSNP gnomAD v2 gnomAD v4
12g.52306183T>ACA384919100KRT81,KRT86c.1150T>A (p.Cys384Ser)
c.1381T>A (p.Cys461Ser)
c.-212+2028A>T (n.-212+2028A>T)
12g.52306183T>CCA384919101KRT81,KRT86c.1150T>C (p.Cys384Arg)
c.1381T>C (p.Cys461Arg)
c.-212+2028A>G (n.-212+2028A>G)
12g.52306183T>GCA384919102KRT81,KRT86c.1150T>G (p.Cys384Gly)
c.1381T>G (p.Cys461Gly)
c.-212+2028A>C (n.-212+2028A>C)
12g.52306184G>ACA384919103KRT81,KRT86c.1151G>A (p.Cys384Tyr)
c.1382G>A (p.Cys461Tyr)
c.-212+2027C>T (n.-212+2027C>T)
 gnomAD v4
12g.52306184G>CCA384919104KRT81,KRT86c.1151G>C (p.Cys384Ser)
c.1382G>C (p.Cys461Ser)
c.-212+2027C>G (n.-212+2027C>G)
12g.52306184G>TCA384919105KRT81,KRT86c.1151G>T (p.Cys384Phe)
c.1382G>T (p.Cys461Phe)
c.-212+2027C>A (n.-212+2027C>A)
12g.52306185C>ACA384919106KRT81,KRT86c.1152C>A (p.Cys384Ter)
c.1383C>A (p.Cys461Ter)
c.-212+2026G>T (n.-212+2026G>T)
 dbSNP
12g.52306185C=CA2036432487KRT81,KRT86c.1152C= (p.Cys384=)
c.1383C= (p.Cys461=)
c.-212+2026G= (n.-212+2026G=)
12g.52306185C>GCA384919107KRT81,KRT86c.1152C>G (p.Cys384Trp)
c.1383C>G (p.Cys461Trp)
c.-212+2026G>C (n.-212+2026G>C)
12g.52306185C>TCA479841366KRT81,KRT86c.1152C>T (p.Cys384=)
c.1383C>T (p.Cys461=)
c.-212+2026G>A (n.-212+2026G>A)
12g.52306186C>ACA384919108KRT81,KRT86c.1153C>A (p.Leu385Met)
c.1384C>A (p.Leu462Met)
c.-212+2025G>T (n.-212+2025G>T)
12g.52306186C>GCA384919109KRT81,KRT86c.1153C>G (p.Leu385Val)
c.1384C>G (p.Leu462Val)
c.-212+2025G>C (n.-212+2025G>C)
12g.52306186C>TCA479841372KRT81,KRT86c.1153C>T (p.Leu385=)
c.1384C>T (p.Leu462=)
c.-212+2025G>A (n.-212+2025G>A)
12g.52306187T>ACA384919110KRT81,KRT86c.1154T>A (p.Leu385Gln)
c.1385T>A (p.Leu462Gln)
c.-212+2024A>T (n.-212+2024A>T)
12g.52306187T>CCA384919111KRT81,KRT86c.1154T>C (p.Leu385Pro)
c.1385T>C (p.Leu462Pro)
c.-212+2024A>G (n.-212+2024A>G)
 gnomAD v4
12g.52306187T>GCA384919112KRT81,KRT86c.1154T>G (p.Leu385Arg)
c.1385T>G (p.Leu462Arg)
c.-212+2024A>C (n.-212+2024A>C)
12g.52306188G>ACA479841380KRT81,KRT86c.1155G>A (p.Leu385=)
c.1386G>A (p.Leu462=)
c.-212+2023C>T (n.-212+2023C>T)
12g.52306188G>CCA479841385KRT81,KRT86c.1155G>C (p.Leu385=)
c.1386G>C (p.Leu462=)
c.-212+2023C>G (n.-212+2023C>G)
12g.52306188G>TCA479841383KRT81,KRT86c.1155G>T (p.Leu385=)
c.1386G>T (p.Leu462=)
c.-212+2023C>A (n.-212+2023C>A)
12g.52306189A=CA2036432488KRT81,KRT86c.1156A= (p.Ile386=)
c.1387A= (p.Ile463=)
c.-212+2022T= (n.-212+2022T=)
12g.52306189A>CCA6577090KRT81,KRT86c.1156A>C (p.Ile386Leu)
c.1387A>C (p.Ile463Leu)
c.-212+2022T>G (n.-212+2022T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306189A>GCA384919113KRT81,KRT86c.1156A>G (p.Ile386Val)
c.1387A>G (p.Ile463Val)
c.-212+2022T>C (n.-212+2022T>C)
 dbSNP gnomAD v2 gnomAD v4
12g.52306189A>TCA384919114KRT81,KRT86c.1156A>T (p.Ile386Phe)
c.1387A>T (p.Ile463Phe)
c.-212+2022T>A (n.-212+2022T>A)
12g.52306190T>ACA384919115KRT81,KRT86c.1157T>A (p.Ile386Asn)
c.1388T>A (p.Ile463Asn)
c.-212+2021A>T (n.-212+2021A>T)
12g.52306190T>CCA384919116KRT81,KRT86c.1157T>C (p.Ile386Thr)
c.1388T>C (p.Ile463Thr)
c.-212+2021A>G (n.-212+2021A>G)
12g.52306190T>GCA384919117KRT81,KRT86c.1157T>G (p.Ile386Ser)
c.1388T>G (p.Ile463Ser)
c.-212+2021A>C (n.-212+2021A>C)
12g.52306191C>ACA479841397KRT81,KRT86c.1158C>A (p.Ile386=)
c.1389C>A (p.Ile463=)
c.-212+2020G>T (n.-212+2020G>T)
12g.52306191C>GCA384919118KRT81,KRT86c.1158C>G (p.Ile386Met)
c.1389C>G (p.Ile463Met)
c.-212+2020G>C (n.-212+2020G>C)
12g.52306191C>TCA479841401KRT81,KRT86c.1158C>T (p.Ile386=)
c.1389C>T (p.Ile463=)
c.-212+2020G>A (n.-212+2020G>A)
 gnomAD v4
12g.52306192A=CA2036432489KRT81,KRT86c.1159A= (p.Arg387=)
c.1390A= (p.Arg464=)
c.-212+2019T= (n.-212+2019T=)
12g.52306192A>CCA479841404KRT81,KRT86c.1159A>C (p.Arg387=)
c.1390A>C (p.Arg464=)
c.-212+2019T>G (n.-212+2019T>G)
12g.52306192A>GCA384919119KRT81,KRT86c.1159A>G (p.Arg387Gly)
c.1390A>G (p.Arg464Gly)
c.-212+2019T>C (n.-212+2019T>C)
12g.52306192A>TCA6577091KRT81,KRT86c.1159A>T (p.Arg387Trp)
c.1390A>T (p.Arg464Trp)
c.-212+2019T>A (n.-212+2019T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306193G>ACA6577092KRT81,KRT86c.1160G>A (p.Arg387Lys)
c.1391G>A (p.Arg464Lys)
c.-212+2018C>T (n.-212+2018C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306193G>CCA384919121KRT81,KRT86c.1160G>C (p.Arg387Thr)
c.1391G>C (p.Arg464Thr)
c.-212+2018C>G (n.-212+2018C>G)
12g.52306193G=CA2036432490KRT81,KRT86c.1160G= (p.Arg387=)
c.1391G= (p.Arg464=)
c.-212+2018C= (n.-212+2018C=)
12g.52306193G>TCA384919120KRT81,KRT86c.1160G>T (p.Arg387Met)
c.1391G>T (p.Arg464Met)
c.-212+2018C>A (n.-212+2018C>A)
12g.52306194G>ACA479841413KRT81,KRT86c.1161G>A (p.Arg387=)
c.1392G>A (p.Arg464=)
c.-212+2017C>T (n.-212+2017C>T)
12g.52306194G>CCA384919123KRT81,KRT86c.1161G>C (p.Arg387Ser)
c.1392G>C (p.Arg464Ser)
c.-212+2017C>G (n.-212+2017C>G)
 dbSNP
12g.52306194G=CA2036432491KRT81,KRT86c.1161G= (p.Arg387=)
c.1392G= (p.Arg464=)
c.-212+2017C= (n.-212+2017C=)
12g.52306194G>TCA384919122KRT81,KRT86c.1161G>T (p.Arg387Ser)
c.1392G>T (p.Arg464Ser)
c.-212+2017C>A (n.-212+2017C>A)
12g.52306195G>ACA384919126KRT81,KRT86c.1162G>A (p.Glu388Lys)
c.1393G>A (p.Glu465Lys)
c.-212+2016C>T (n.-212+2016C>T)
 COSMIC
12g.52306195G>CCA384919124KRT81,KRT86c.1162G>C (p.Glu388Gln)
c.1393G>C (p.Glu465Gln)
c.-212+2016C>G (n.-212+2016C>G)
12g.52306195G>TCA384919125KRT81,KRT86c.1162G>T (p.Glu388Ter)
c.1393G>T (p.Glu465Ter)
c.-212+2016C>A (n.-212+2016C>A)
12g.52306196A>CCA384919127KRT81,KRT86c.1163A>C (p.Glu388Ala)
c.1394A>C (p.Glu465Ala)
c.-212+2015T>G (n.-212+2015T>G)
12g.52306196A>GCA384919128KRT81,KRT86c.1163A>G (p.Glu388Gly)
c.1394A>G (p.Glu465Gly)
c.-212+2015T>C (n.-212+2015T>C)
12g.52306196A>TCA384919129KRT81,KRT86c.1163A>T (p.Glu388Val)
c.1394A>T (p.Glu465Val)
c.-212+2015T>A (n.-212+2015T>A)
12g.52306197G>ACA6577093KRT81,KRT86c.1164G>A (p.Glu388=)
c.1395G>A (p.Glu465=)
c.-212+2014C>T (n.-212+2014C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306197G>CCA6577094KRT81,KRT86c.1164G>C (p.Glu388Asp)
c.1395G>C (p.Glu465Asp)
c.-212+2014C>G (n.-212+2014C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306197G=CA2036432492KRT81,KRT86c.1164G= (p.Glu388=)
c.1395G= (p.Glu465=)
c.-212+2014C= (n.-212+2014C=)
12g.52306197G>TCA384919130KRT81,KRT86c.1164G>T (p.Glu388Asp)
c.1395G>T (p.Glu465Asp)
c.-212+2014C>A (n.-212+2014C>A)
 COSMIC
12g.52306198T>ACA384919131KRT81,KRT86c.1165T>A (p.Tyr389Asn)
c.1396T>A (p.Tyr466Asn)
c.-212+2013A>T (n.-212+2013A>T)
12g.52306198T>CCA384919132KRT81,KRT86c.1165T>C (p.Tyr389His)
c.1396T>C (p.Tyr466His)
c.-212+2013A>G (n.-212+2013A>G)
12g.52306198T>GCA384919133KRT81,KRT86c.1165T>G (p.Tyr389Asp)
c.1396T>G (p.Tyr466Asp)
c.-212+2013A>C (n.-212+2013A>C)
12g.52306199A>CCA384919136KRT81,KRT86c.1166A>C (p.Tyr389Ser)
c.1397A>C (p.Tyr466Ser)
c.-212+2012T>G (n.-212+2012T>G)
12g.52306199A>GCA384919135KRT81,KRT86c.1166A>G (p.Tyr389Cys)
c.1397A>G (p.Tyr466Cys)
c.-212+2012T>C (n.-212+2012T>C)
12g.52306199A>TCA384919134KRT81,KRT86c.1166A>T (p.Tyr389Phe)
c.1397A>T (p.Tyr466Phe)
c.-212+2012T>A (n.-212+2012T>A)
12g.52306200C>ACA384919137KRT81,KRT86c.1167C>A (p.Tyr389Ter)
c.1398C>A (p.Tyr466Ter)
c.-212+2011G>T (n.-212+2011G>T)
12g.52306200C>GCA384919138KRT81,KRT86c.1167C>G (p.Tyr389Ter)
c.1398C>G (p.Tyr466Ter)
c.-212+2011G>C (n.-212+2011G>C)
 gnomAD v4
12g.52306200C>TCA479841442KRT81,KRT86c.1167C>T (p.Tyr389=)
c.1398C>T (p.Tyr466=)
c.-212+2011G>A (n.-212+2011G>A)
 gnomAD v4
12g.52306201C>ACA384919139KRT81,KRT86c.1168C>A (p.Gln390Lys)
c.1399C>A (p.Gln467Lys)
c.-212+2010G>T (n.-212+2010G>T)
12g.52306201C=CA2036432493KRT81,KRT86c.1168C= (p.Gln390=)
c.1399C= (p.Gln467=)
c.-212+2010G= (n.-212+2010G=)
12g.52306201C>GCA384919140KRT81,KRT86c.1168C>G (p.Gln390Glu)
c.1399C>G (p.Gln467Glu)
c.-212+2010G>C (n.-212+2010G>C)
12g.52306201C>TCA384919141KRT81,KRT86c.1168C>T (p.Gln390Ter)
c.1399C>T (p.Gln467Ter)
c.-212+2010G>A (n.-212+2010G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.52306202A=CA2036432494KRT81,KRT86c.1169A= (p.Gln390=)
c.1400A= (p.Gln467=)
c.-212+2009T= (n.-212+2009T=)
12g.52306202A>CCA384919142KRT81,KRT86c.1169A>C (p.Gln390Pro)
c.1400A>C (p.Gln467Pro)
c.-212+2009T>G (n.-212+2009T>G)
12g.52306202A>GCA6577095KRT81,KRT86c.1169A>G (p.Gln390Arg)
c.1400A>G (p.Gln467Arg)
c.-212+2009T>C (n.-212+2009T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306202A>TCA384919143KRT81,KRT86c.1169A>T (p.Gln390Leu)
c.1400A>T (p.Gln467Leu)
c.-212+2009T>A (n.-212+2009T>A)
12g.52306203G>ACA479841456KRT81,KRT86c.1170G>A (p.Gln390=)
c.1401G>A (p.Gln467=)
c.-212+2008C>T (n.-212+2008C>T)
12g.52306203G>CCA384919144KRT81,KRT86c.1170G>C (p.Gln390His)
c.1401G>C (p.Gln467His)
c.-212+2008C>G (n.-212+2008C>G)
12g.52306203G>TCA384919145KRT81,KRT86c.1170G>T (p.Gln390His)
c.1401G>T (p.Gln467His)
c.-212+2008C>A (n.-212+2008C>A)
12g.52306204G>ACA384919146KRT81,KRT86c.1171G>A (p.Glu391Lys)
c.1402G>A (p.Glu468Lys)
c.-212+2007C>T (n.-212+2007C>T)
12g.52306204G>CCA384919147KRT81,KRT86c.1171G>C (p.Glu391Gln)
c.1402G>C (p.Glu468Gln)
c.-212+2007C>G (n.-212+2007C>G)
12g.52306204G>TCA384919148KRT81,KRT86c.1171G>T (p.Glu391Ter)
c.1402G>T (p.Glu468Ter)
c.-212+2007C>A (n.-212+2007C>A)
12g.52306205A>CCA384919151KRT81,KRT86c.1172A>C (p.Glu391Ala)
c.1403A>C (p.Glu468Ala)
c.-212+2006T>G (n.-212+2006T>G)
12g.52306205A>GCA384919150KRT81,KRT86c.1172A>G (p.Glu391Gly)
c.1403A>G (p.Glu468Gly)
c.-212+2006T>C (n.-212+2006T>C)
12g.52306205A>TCA384919149KRT81,KRT86c.1172A>T (p.Glu391Val)
c.1403A>T (p.Glu468Val)
c.-212+2006T>A (n.-212+2006T>A)
12g.52306206G>ACA479841472KRT81,KRT86c.1173G>A (p.Glu391=)
c.1404G>A (p.Glu468=)
c.-212+2005C>T (n.-212+2005C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.52306206G>CCA384919153KRT81,KRT86c.1173G>C (p.Glu391Asp)
c.1404G>C (p.Glu468Asp)
c.-212+2005C>G (n.-212+2005C>G)
12g.52306206G=CA2036432495KRT81,KRT86c.1173G= (p.Glu391=)
c.1404G= (p.Glu468=)
c.-212+2005C= (n.-212+2005C=)
12g.52306206G>TCA384919152KRT81,KRT86c.1173G>T (p.Glu391Asp)
c.1404G>T (p.Glu468Asp)
c.-212+2005C>A (n.-212+2005C>A)
12g.52306207G>ACA384919154KRT81,KRT86c.1174G>A (p.Val392Met)
c.1405G>A (p.Val469Met)
c.-212+2004C>T (n.-212+2004C>T)
12g.52306207G>CCA384919155KRT81,KRT86c.1174G>C (p.Val392Leu)
c.1405G>C (p.Val469Leu)
c.-212+2004C>G (n.-212+2004C>G)
12g.52306207G>TCA384919156KRT81,KRT86c.1174G>T (p.Val392Leu)
c.1405G>T (p.Val469Leu)
c.-212+2004C>A (n.-212+2004C>A)
 gnomAD v4 COSMIC
12g.52306208T>ACA384919157KRT81,KRT86c.1175T>A (p.Val392Glu)
c.1406T>A (p.Val469Glu)
c.-212+2003A>T (n.-212+2003A>T)
12g.52306208T>CCA384919158KRT81,KRT86c.1175T>C (p.Val392Ala)
c.1406T>C (p.Val469Ala)
c.-212+2003A>G (n.-212+2003A>G)
12g.52306208T>GCA384919159KRT81,KRT86c.1175T>G (p.Val392Gly)
c.1406T>G (p.Val469Gly)
c.-212+2003A>C (n.-212+2003A>C)
 dbSNP
12g.52306208T=CA2036432496KRT81,KRT86c.1175T= (p.Val392=)
c.1406T= (p.Val469=)
c.-212+2003A= (n.-212+2003A=)
12g.52306209G>ACA479841484KRT81,KRT86c.1176G>A (p.Val392=)
c.1407G>A (p.Val469=)
c.-212+2002C>T (n.-212+2002C>T)
12g.52306209G>CCA479841485KRT81,KRT86c.1176G>C (p.Val392=)
c.1407G>C (p.Val469=)
c.-212+2002C>G (n.-212+2002C>G)
12g.52306209G>TCA479841488KRT81,KRT86c.1176G>T (p.Val392=)
c.1407G>T (p.Val469=)
c.-212+2002C>A (n.-212+2002C>A)
12g.52306210A>CCA384919160KRT81,KRT86c.1177A>C (p.Met393Leu)
c.1408A>C (p.Met470Leu)
c.-212+2001T>G (n.-212+2001T>G)
12g.52306210A>GCA384919161KRT81,KRT86c.1177A>G (p.Met393Val)
c.1408A>G (p.Met470Val)
c.-212+2001T>C (n.-212+2001T>C)
12g.52306210A>TCA384919162KRT81,KRT86c.1177A>T (p.Met393Leu)
c.1408A>T (p.Met470Leu)
c.-212+2001T>A (n.-212+2001T>A)
12g.52306210_52306211delinsATCA2036432497KRT81,KRT86c.1177_1178delinsAT (p.Met393=)
c.1408_1409delinsAT (p.Met470=)
c.-212+2000_-212+2001delinsAT (n.-212+2000_-212+2001delinsAT)
12g.52306211delCA947686104KRT81,KRT86c.1178del (p.Met393ArgfsTer?)
c.1409del (p.Met470ArgfsTer?)
c.-212+2000del (n.-212+2000del)
 dbSNP gnomAD v3 gnomAD v4
12g.52306211T>ACA6577096KRT81,KRT86c.1178T>A (p.Met393Lys)
c.1409T>A (p.Met470Lys)
c.-212+2000A>T (n.-212+2000A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306211T>CCA6577097KRT81,KRT86c.1178T>C (p.Met393Thr)
c.1409T>C (p.Met470Thr)
c.-212+2000A>G (n.-212+2000A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306211T>GCA384919163KRT81,KRT86c.1178T>G (p.Met393Arg)
c.1409T>G (p.Met470Arg)
c.-212+2000A>C (n.-212+2000A>C)
12g.52306211T=CA2036432498KRT81,KRT86c.1178T= (p.Met393=)
c.1409T= (p.Met470=)
c.-212+2000A= (n.-212+2000A=)
12g.52306212G>ACA384919166KRT81,KRT86c.1179G>A (p.Met393Ile)
c.1410G>A (p.Met470Ile)
c.-212+1999C>T (n.-212+1999C>T)
 COSMIC
12g.52306212G>CCA384919164KRT81,KRT86c.1179G>C (p.Met393Ile)
c.1410G>C (p.Met470Ile)
c.-212+1999C>G (n.-212+1999C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52306212G=CA2036432499KRT81,KRT86c.1179G= (p.Met393=)
c.1410G= (p.Met470=)
c.-212+1999C= (n.-212+1999C=)
12g.52306212G>TCA384919165KRT81,KRT86c.1179G>T (p.Met393Ile)
c.1410G>T (p.Met470Ile)
c.-212+1999C>A (n.-212+1999C>A)
12g.52306213A>CCA384919167KRT81,KRT86c.1180A>C (p.Asn394His)
c.1411A>C (p.Asn471His)
c.-212+1998T>G (n.-212+1998T>G)
12g.52306213A>GCA384919168KRT81,KRT86c.1180A>G (p.Asn394Asp)
c.1411A>G (p.Asn471Asp)
c.-212+1998T>C (n.-212+1998T>C)
12g.52306213A>TCA384919169KRT81,KRT86c.1180A>T (p.Asn394Tyr)
c.1411A>T (p.Asn471Tyr)
c.-212+1998T>A (n.-212+1998T>A)
12g.52306214A>CCA384919170KRT81,KRT86c.1181A>C (p.Asn394Thr)
c.1412A>C (p.Asn471Thr)
c.-212+1997T>G (n.-212+1997T>G)
12g.52306214A>GCA384919171KRT81,KRT86c.1181A>G (p.Asn394Ser)
c.1412A>G (p.Asn471Ser)
c.-212+1997T>C (n.-212+1997T>C)
12g.52306214A>TCA384919172KRT81,KRT86c.1181A>T (p.Asn394Ile)
c.1412A>T (p.Asn471Ile)
c.-212+1997T>A (n.-212+1997T>A)
12g.52306215C>ACA384919173KRT81,KRT86c.1182C>A (p.Asn394Lys)
c.1413C>A (p.Asn471Lys)
c.-212+1996G>T (n.-212+1996G>T)
12g.52306215C=CA2036432500KRT81,KRT86c.1182C= (p.Asn394=)
c.1413C= (p.Asn471=)
c.-212+1996G= (n.-212+1996G=)
12g.52306215C>GCA384919174KRT81,KRT86c.1182C>G (p.Asn394Lys)
c.1413C>G (p.Asn471Lys)
c.-212+1996G>C (n.-212+1996G>C)
12g.52306215C>TCA6577098KRT81,KRT86c.1182C>T (p.Asn394=)
c.1413C>T (p.Asn471=)
c.-212+1996G>A (n.-212+1996G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306216T>ACA384919175KRT81,KRT86c.1183T>A (p.Ser395Thr)
c.1414T>A (p.Ser472Thr)
c.-212+1995A>T (n.-212+1995A>T)
12g.52306216T>CCA384919176KRT81,KRT86c.1183T>C (p.Ser395Pro)
c.1414T>C (p.Ser472Pro)
c.-212+1995A>G (n.-212+1995A>G)
 dbSNP gnomAD v4
12g.52306216T>GCA384919177KRT81,KRT86c.1183T>G (p.Ser395Ala)
c.1414T>G (p.Ser472Ala)
c.-212+1995A>C (n.-212+1995A>C)
12g.52306217C>ACA384919179KRT81,KRT86c.1184C>A (p.Ser395Tyr)
c.1415C>A (p.Ser472Tyr)
c.-212+1994G>T (n.-212+1994G>T)
12g.52306217C=CA2036432501KRT81,KRT86c.1184C= (p.Ser395=)
c.1415C= (p.Ser472=)
c.-212+1994G= (n.-212+1994G=)
12g.52306217C>GCA384919180KRT81,KRT86c.1184C>G (p.Ser395Cys)
c.1415C>G (p.Ser472Cys)
c.-212+1994G>C (n.-212+1994G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.52306217C>TCA384919178KRT81,KRT86c.1184C>T (p.Ser395Phe)
c.1415C>T (p.Ser472Phe)
c.-212+1994G>A (n.-212+1994G>A)
12g.52306218C>ACA479841525KRT81,KRT86c.1185C>A (p.Ser395=)
c.1416C>A (p.Ser472=)
c.-212+1993G>T (n.-212+1993G>T)
12g.52306218C=CA2036432502KRT81,KRT86c.1185C= (p.Ser395=)
c.1416C= (p.Ser472=)
c.-212+1993G= (n.-212+1993G=)
12g.52306218C>GCA479841527KRT81,KRT86c.1185C>G (p.Ser395=)
c.1416C>G (p.Ser472=)
c.-212+1993G>C (n.-212+1993G>C)
 COSMIC
12g.52306218C>TCA479841528KRT81,KRT86c.1185C>T (p.Ser395=)
c.1416C>T (p.Ser472=)
c.-212+1993G>A (n.-212+1993G>A)
 dbSNP
12g.52306219A>CCA384919181KRT81,KRT86c.1186A>C (p.Lys396Gln)
c.1417A>C (p.Lys473Gln)
c.-212+1992T>G (n.-212+1992T>G)
12g.52306219A>GCA384919183KRT81,KRT86c.1186A>G (p.Lys396Glu)
c.1417A>G (p.Lys473Glu)
c.-212+1992T>C (n.-212+1992T>C)
 gnomAD v4
12g.52306219A>TCA384919182KRT81,KRT86c.1186A>T (p.Lys396Ter)
c.1417A>T (p.Lys473Ter)
c.-212+1992T>A (n.-212+1992T>A)
12g.52306220A=CA2036432503KRT81,KRT86c.1187A= (p.Lys396=)
c.1418A= (p.Lys473=)
c.-212+1991T= (n.-212+1991T=)
12g.52306220A>CCA384919184KRT81,KRT86c.1187A>C (p.Lys396Thr)
c.1418A>C (p.Lys473Thr)
c.-212+1991T>G (n.-212+1991T>G)
 gnomAD v4
12g.52306220A>GCA6577099KRT81,KRT86c.1187A>G (p.Lys396Arg)
c.1418A>G (p.Lys473Arg)
c.-212+1991T>C (n.-212+1991T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52306220A>TCA384919185KRT81,KRT86c.1187A>T (p.Lys396Met)
c.1418A>T (p.Lys473Met)
c.-212+1991T>A (n.-212+1991T>A)
12g.52306221G>ACA479841541KRT81,KRT86c.1188G>A (p.Lys396=)
c.1419G>A (p.Lys473=)
c.-212+1990C>T (n.-212+1990C>T)
 gnomAD v4
12g.52306221G>CCA384919186KRT81,KRT86c.1188G>C (p.Lys396Asn)
c.1419G>C (p.Lys473Asn)
c.-212+1990C>G (n.-212+1990C>G)
12g.52306221G>TCA384919187KRT81,KRT86c.1188G>T (p.Lys396Asn)
c.1419G>T (p.Lys473Asn)
c.-212+1990C>A (n.-212+1990C>A)
12g.52306222C>ACA384919188KRT81,KRT86c.1189C>A (p.Leu397Met)
c.1420C>A (p.Leu474Met)
c.-212+1989G>T (n.-212+1989G>T)
 dbSNP gnomAD v4
12g.52306222C=CA2036432504KRT81,KRT86c.1189C= (p.Leu397=)
c.1420C= (p.Leu474=)
c.-212+1989G= (n.-212+1989G=)
12g.52306222C>GCA384919189KRT81,KRT86c.1189C>G (p.Leu397Val)
c.1420C>G (p.Leu474Val)
c.-212+1989G>C (n.-212+1989G>C)
12g.52306222C>TCA479841548KRT81,KRT86c.1189C>T (p.Leu397=)
c.1420C>T (p.Leu474=)
c.-212+1989G>A (n.-212+1989G>A)
 gnomAD v4
12g.52306223T>ACA384919190KRT81,KRT86c.1190T>A (p.Leu397Gln)
c.1421T>A (p.Leu474Gln)
c.-212+1988A>T (n.-212+1988A>T)
12g.52306223T>CCA384919191KRT81,KRT86c.1190T>C (p.Leu397Pro)
c.1421T>C (p.Leu474Pro)
c.-212+1988A>G (n.-212+1988A>G)
 gnomAD v4
12g.52306223T>GCA384919192KRT81,KRT86c.1190T>G (p.Leu397Arg)
c.1421T>G (p.Leu474Arg)
c.-212+1988A>C (n.-212+1988A>C)
 gnomAD v4
12g.52306224G>ACA479841557KRT81,KRT86c.1191G>A (p.Leu397=)
c.1422G>A (p.Leu474=)
c.-212+1987C>T (n.-212+1987C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.52306224G>CCA479841560KRT81,KRT86c.1191G>C (p.Leu397=)
c.1422G>C (p.Leu474=)
c.-212+1987C>G (n.-212+1987C>G)
12g.52306224G=CA2036432505KRT81,KRT86c.1191G= (p.Leu397=)
c.1422G= (p.Leu474=)
c.-212+1987C= (n.-212+1987C=)
12g.52306224G>TCA479841554KRT81,KRT86c.1191G>T (p.Leu397=)
c.1422G>T (p.Leu474=)
c.-212+1987C>A (n.-212+1987C>A)
12g.52306226delCA2618906177KRT81,KRT86c.1193del (p.Gly398AlafsTer27)
c.1424del (p.Gly475AlafsTer27)
c.-212+1987del (n.-212+1987del)
 gnomAD v4
12g.52306225G>ACA384919195KRT81,KRT86c.1192G>A (p.Gly398Ser)
c.1423G>A (p.Gly475Ser)
c.-212+1986C>T (n.-212+1986C>T)
12g.52306225G>CCA384919194KRT81,KRT86c.1192G>C (p.Gly398Arg)
c.1423G>C (p.Gly475Arg)
c.-212+1986C>G (n.-212+1986C>G)
12g.52306225G>TCA384919193KRT81,KRT86c.1192G>T (p.Gly398Cys)
c.1423G>T (p.Gly475Cys)
c.-212+1986C>A (n.-212+1986C>A)
12g.52306226G>ACA384919196KRT81,KRT86c.1193G>A (p.Gly398Asp)
c.1424G>A (p.Gly475Asp)
c.-212+1985C>T (n.-212+1985C>T)
12g.52306226G>CCA384919197KRT81,KRT86c.1193G>C (p.Gly398Ala)
c.1424G>C (p.Gly475Ala)
c.-212+1985C>G (n.-212+1985C>G)
12g.52306226G>TCA384919198KRT81,KRT86c.1193G>T (p.Gly398Val)
c.1424G>T (p.Gly475Val)
c.-212+1985C>A (n.-212+1985C>A)
12g.52306227C>ACA479841576KRT81,KRT86c.1194C>A (p.Gly398=)
c.1425C>A (p.Gly475=)
c.-212+1984G>T (n.-212+1984G>T)
12g.52306227C>GCA479841572KRT81,KRT86c.1194C>G (p.Gly398=)
c.1425C>G (p.Gly475=)
c.-212+1984G>C (n.-212+1984G>C)
12g.52306227C>TCA479841574KRT81,KRT86c.1194C>T (p.Gly398=)
c.1425C>T (p.Gly475=)
c.-212+1984G>A (n.-212+1984G>A)
12g.52306228C>ACA384919199KRT81,KRT86c.1195C>A (p.Leu399Met)
c.1426C>A (p.Leu476Met)
c.-212+1983G>T (n.-212+1983G>T)
12g.52306228C>GCA384919200KRT81,KRT86c.1195C>G (p.Leu399Val)
c.1426C>G (p.Leu476Val)
c.-212+1983G>C (n.-212+1983G>C)
12g.52306228C>TCA479841581KRT81,KRT86c.1195C>T (p.Leu399=)
c.1426C>T (p.Leu476=)
c.-212+1983G>A (n.-212+1983G>A)
12g.52306229T>ACA384919201KRT81,KRT86c.1196T>A (p.Leu399Gln)
c.1427T>A (p.Leu476Gln)
c.-212+1982A>T (n.-212+1982A>T)
12g.52306229T>CCA6577100KRT81,KRT86c.1196T>C (p.Leu399Pro)
c.1427T>C (p.Leu476Pro)
c.-212+1982A>G (n.-212+1982A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306229T>GCA384919202KRT81,KRT86c.1196T>G (p.Leu399Arg)
c.1427T>G (p.Leu476Arg)
c.-212+1982A>C (n.-212+1982A>C)
 gnomAD v4
12g.52306229T=CA2036432506KRT81,KRT86c.1196T= (p.Leu399=)
c.1427T= (p.Leu476=)
c.-212+1982A= (n.-212+1982A=)
12g.52306230G>ACA479841589KRT81,KRT86c.1197G>A (p.Leu399=)
c.1428G>A (p.Leu476=)
c.-212+1981C>T (n.-212+1981C>T)
12g.52306230G>CCA479841593KRT81,KRT86c.1197G>C (p.Leu399=)
c.1428G>C (p.Leu476=)
c.-212+1981C>G (n.-212+1981C>G)
 gnomAD v4
12g.52306230G=CA2036432507KRT81,KRT86c.1197G= (p.Leu399=)
c.1428G= (p.Leu476=)
c.-212+1981C= (n.-212+1981C=)
12g.52306230G>TCA479841591KRT81,KRT86c.1197G>T (p.Leu399=)
c.1428G>T (p.Leu476=)
c.-212+1981C>A (n.-212+1981C>A)
 dbSNP
12g.52306231G>ACA384919203KRT81,KRT86c.1198G>A (p.Asp400Asn)
c.1429G>A (p.Asp477Asn)
c.-212+1980C>T (n.-212+1980C>T)
12g.52306231G>CCA384919204KRT81,KRT86c.1198G>C (p.Asp400His)
c.1429G>C (p.Asp477His)
c.-212+1980C>G (n.-212+1980C>G)
12g.52306231G>TCA384919205KRT81,KRT86c.1198G>T (p.Asp400Tyr)
c.1429G>T (p.Asp477Tyr)
c.-212+1980C>A (n.-212+1980C>A)
12g.52306232A>CCA384919207KRT81,KRT86c.1199A>C (p.Asp400Ala)
c.1430A>C (p.Asp477Ala)
c.-212+1979T>G (n.-212+1979T>G)
12g.52306232A>GCA384919208KRT81,KRT86c.1199A>G (p.Asp400Gly)
c.1430A>G (p.Asp477Gly)
c.-212+1979T>C (n.-212+1979T>C)
12g.52306232A>TCA384919206KRT81,KRT86c.1199A>T (p.Asp400Val)
c.1430A>T (p.Asp477Val)
c.-212+1979T>A (n.-212+1979T>A)
12g.52306233C>ACA384919209KRT81,KRT86c.1200C>A (p.Asp400Glu)
c.1431C>A (p.Asp477Glu)
c.-212+1978G>T (n.-212+1978G>T)
12g.52306233C=CA2036432508KRT81,KRT86c.1200C= (p.Asp400=)
c.1431C= (p.Asp477=)
c.-212+1978G= (n.-212+1978G=)
12g.52306233C>GCA384919210KRT81,KRT86c.1200C>G (p.Asp400Glu)
c.1431C>G (p.Asp477Glu)
c.-212+1978G>C (n.-212+1978G>C)
12g.52306233C>TCA479841603KRT81,KRT86c.1200C>T (p.Asp400=)
c.1431C>T (p.Asp477=)
c.-212+1978G>A (n.-212+1978G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.52306234A=CA2036432509KRT81,KRT86c.1201A= (p.Ile401=)
c.1432A= (p.Ile478=)
c.-212+1977T= (n.-212+1977T=)
12g.52306234A>CCA384919211KRT81,KRT86c.1201A>C (p.Ile401Leu)
c.1432A>C (p.Ile478Leu)
c.-212+1977T>G (n.-212+1977T>G)
12g.52306234A>GCA384919212KRT81,KRT86c.1201A>G (p.Ile401Val)
c.1432A>G (p.Ile478Val)
c.-212+1977T>C (n.-212+1977T>C)
 dbSNP gnomAD v4
12g.52306234A>TCA384919213KRT81,KRT86c.1201A>T (p.Ile401Phe)
c.1432A>T (p.Ile478Phe)
c.-212+1977T>A (n.-212+1977T>A)
 gnomAD v4
12g.52306235T>ACA384919214KRT81,KRT86c.1202T>A (p.Ile401Asn)
c.1433T>A (p.Ile478Asn)
c.-212+1976A>T (n.-212+1976A>T)
12g.52306235T>CCA384919215KRT81,KRT86c.1202T>C (p.Ile401Thr)
c.1433T>C (p.Ile478Thr)
c.-212+1976A>G (n.-212+1976A>G)
12g.52306235T>GCA384919216KRT81,KRT86c.1202T>G (p.Ile401Ser)
c.1433T>G (p.Ile478Ser)
c.-212+1976A>C (n.-212+1976A>C)
12g.52306236C>ACA479841613KRT81,KRT86c.1203C>A (p.Ile401=)
c.1434C>A (p.Ile478=)
c.-212+1975G>T (n.-212+1975G>T)
 dbSNP
12g.52306236C=CA2036432510KRT81,KRT86c.1203C= (p.Ile401=)
c.1434C= (p.Ile478=)
c.-212+1975G= (n.-212+1975G=)
12g.52306236C>GCA384919217KRT81,KRT86c.1203C>G (p.Ile401Met)
c.1434C>G (p.Ile478Met)
c.-212+1975G>C (n.-212+1975G>C)
 gnomAD v4
12g.52306236C>TCA6577101KRT81,KRT86c.1203C>T (p.Ile401=)
c.1434C>T (p.Ile478=)
c.-212+1975G>A (n.-212+1975G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.52306237G>ACA118926KRT81,KRT86c.1204G>A (p.Glu402Lys)
c.1435G>A (p.Glu479Lys)
c.-212+1974C>T (n.-212+1974C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306237G>CCA118928KRT81,KRT86c.1204G>C (p.Glu402Gln)
c.1435G>C (p.Glu479Gln)
c.-212+1974C>G (n.-212+1974C>G)
 ClinVar dbSNP gnomAD v4
12g.52306237G=CA2036432511KRT81,KRT86c.1204G= (p.Glu402=)
c.1435G= (p.Glu479=)
c.-212+1974C= (n.-212+1974C=)
12g.52306237G>TCA384919218KRT81,KRT86c.1204G>T (p.Glu402Ter)
c.1435G>T (p.Glu479Ter)
c.-212+1974C>A (n.-212+1974C>A)
12g.52306238A>CCA384919221KRT81,KRT86c.1205A>C (p.Glu402Ala)
c.1436A>C (p.Glu479Ala)
c.-212+1973T>G (n.-212+1973T>G)
12g.52306238A>GCA384919220KRT81,KRT86c.1205A>G (p.Glu402Gly)
c.1436A>G (p.Glu479Gly)
c.-212+1973T>C (n.-212+1973T>C)
12g.52306238A>TCA384919219KRT81,KRT86c.1205A>T (p.Glu402Val)
c.1436A>T (p.Glu479Val)
c.-212+1973T>A (n.-212+1973T>A)
12g.52306239G>ACA479841624KRT81,KRT86c.1206G>A (p.Glu402=)
c.1437G>A (p.Glu479=)
c.-212+1972C>T (n.-212+1972C>T)
12g.52306239G>CCA384919222KRT81,KRT86c.1206G>C (p.Glu402Asp)
c.1437G>C (p.Glu479Asp)
c.-212+1972C>G (n.-212+1972C>G)
12g.52306239G>TCA384919223KRT81,KRT86c.1206G>T (p.Glu402Asp)
c.1437G>T (p.Glu479Asp)
c.-212+1972C>A (n.-212+1972C>A)
12g.52306240A>CCA384919224KRT81,KRT86c.1207A>C (p.Ile403Leu)
c.1438A>C (p.Ile480Leu)
c.-212+1971T>G (n.-212+1971T>G)
12g.52306240A>GCA384919225KRT81,KRT86c.1207A>G (p.Ile403Val)
c.1438A>G (p.Ile480Val)
c.-212+1971T>C (n.-212+1971T>C)
12g.52306240A>TCA384919226KRT81,KRT86c.1207A>T (p.Ile403Phe)
c.1438A>T (p.Ile480Phe)
c.-212+1971T>A (n.-212+1971T>A)
12g.52306241T>ACA384919227KRT81,KRT86c.1208T>A (p.Ile403Asn)
c.1439T>A (p.Ile480Asn)
c.-212+1970A>T (n.-212+1970A>T)
12g.52306241T>CCA384919228KRT81,KRT86c.1208T>C (p.Ile403Thr)
c.1439T>C (p.Ile480Thr)
c.-212+1970A>G (n.-212+1970A>G)
12g.52306241T>GCA384919229KRT81,KRT86c.1208T>G (p.Ile403Ser)
c.1439T>G (p.Ile480Ser)
c.-212+1970A>C (n.-212+1970A>C)
12g.52306242C>ACA479841634KRT81,KRT86c.1209C>A (p.Ile403=)
c.1440C>A (p.Ile480=)
c.-212+1969G>T (n.-212+1969G>T)
 gnomAD v4
12g.52306242C=CA2036432512KRT81,KRT86c.1209C= (p.Ile403=)
c.1440C= (p.Ile480=)
c.-212+1969G= (n.-212+1969G=)
12g.52306242C>GCA384919230KRT81,KRT86c.1209C>G (p.Ile403Met)
c.1440C>G (p.Ile480Met)
c.-212+1969G>C (n.-212+1969G>C)
 gnomAD v4
12g.52306242C>TCA6577102KRT81,KRT86c.1209C>T (p.Ile403=)
c.1440C>T (p.Ile480=)
c.-212+1969G>A (n.-212+1969G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306243G>ACA6577103KRT81,KRT86c.1210G>A (p.Ala404Thr)
c.1441G>A (p.Ala481Thr)
c.-212+1968C>T (n.-212+1968C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.52306243G>CCA384919231KRT81,KRT86c.1210G>C (p.Ala404Pro)
c.1441G>C (p.Ala481Pro)
c.-212+1968C>G (n.-212+1968C>G)
12g.52306243G=CA2036432513KRT81,KRT86c.1210G= (p.Ala404=)
c.1441G= (p.Ala481=)
c.-212+1968C= (n.-212+1968C=)
12g.52306243G>TCA384919232KRT81,KRT86c.1210G>T (p.Ala404Ser)
c.1441G>T (p.Ala481Ser)
c.-212+1968C>A (n.-212+1968C>A)
12g.52306244C>ACA384919234KRT81,KRT86c.1211C>A (p.Ala404Asp)
c.1442C>A (p.Ala481Asp)
c.-212+1967G>T (n.-212+1967G>T)
12g.52306244C=CA2036432514KRT81,KRT86c.1211C= (p.Ala404=)
c.1442C= (p.Ala481=)
c.-212+1967G= (n.-212+1967G=)
12g.52306244C>GCA384919235KRT81,KRT86c.1211C>G (p.Ala404Gly)
c.1442C>G (p.Ala481Gly)
c.-212+1967G>C (n.-212+1967G>C)
12g.52306244C>TCA384919233KRT81,KRT86c.1211C>T (p.Ala404Val)
c.1442C>T (p.Ala481Val)
c.-212+1967G>A (n.-212+1967G>A)
 dbSNP
12g.52306245C>ACA479841649KRT81,KRT86c.1212C>A (p.Ala404=)
c.1443C>A (p.Ala481=)
c.-212+1966G>T (n.-212+1966G>T)
12g.52306245C=CA2036432515KRT81,KRT86c.1212C= (p.Ala404=)
c.1443C= (p.Ala481=)
c.-212+1966G= (n.-212+1966G=)
12g.52306245C>GCA479841647KRT81,KRT86c.1212C>G (p.Ala404=)
c.1443C>G (p.Ala481=)
c.-212+1966G>C (n.-212+1966G>C)
 COSMIC
12g.52306245C>TCA6577104KRT81,KRT86c.1212C>T (p.Ala404=)
c.1443C>T (p.Ala481=)
c.-212+1966G>A (n.-212+1966G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306246A>CCA384919236KRT81,KRT86c.1213A>C (p.Thr405Pro)
c.1444A>C (p.Thr482Pro)
c.-212+1965T>G (n.-212+1965T>G)
12g.52306246A>GCA384919238KRT81,KRT86c.1213A>G (p.Thr405Ala)
c.1444A>G (p.Thr482Ala)
c.-212+1965T>C (n.-212+1965T>C)
12g.52306246A>TCA384919237KRT81,KRT86c.1213A>T (p.Thr405Ser)
c.1444A>T (p.Thr482Ser)
c.-212+1965T>A (n.-212+1965T>A)
12g.52306247C>ACA384919239KRT81,KRT86c.1214C>A (p.Thr405Asn)
c.1445C>A (p.Thr482Asn)
c.-212+1964G>T (n.-212+1964G>T)
12g.52306247C>GCA384919240KRT81,KRT86c.1214C>G (p.Thr405Ser)
c.1445C>G (p.Thr482Ser)
c.-212+1964G>C (n.-212+1964G>C)
12g.52306247C>TCA384919241KRT81,KRT86c.1214C>T (p.Thr405Ile)
c.1445C>T (p.Thr482Ile)
c.-212+1964G>A (n.-212+1964G>A)
12g.52306248C>ACA479841655KRT81,KRT86c.1215C>A (p.Thr405=)
c.1446C>A (p.Thr482=)
c.-212+1963G>T (n.-212+1963G>T)
12g.52306248C>GCA479841658KRT81,KRT86c.1215C>G (p.Thr405=)
c.1446C>G (p.Thr482=)
c.-212+1963G>C (n.-212+1963G>C)
12g.52306248C>TCA479841656KRT81,KRT86c.1215C>T (p.Thr405=)
c.1446C>T (p.Thr482=)
c.-212+1963G>A (n.-212+1963G>A)
12g.52306249T>ACA384919242KRT81,KRT86c.1216T>A (p.Tyr406Asn)
c.1447T>A (p.Tyr483Asn)
c.-212+1962A>T (n.-212+1962A>T)
12g.52306249T>CCA384919243KRT81,KRT86c.1216T>C (p.Tyr406His)
c.1447T>C (p.Tyr483His)
c.-212+1962A>G (n.-212+1962A>G)
12g.52306249T>GCA384919244KRT81,KRT86c.1216T>G (p.Tyr406Asp)
c.1447T>G (p.Tyr483Asp)
c.-212+1962A>C (n.-212+1962A>C)
12g.52306250A>CCA384919245KRT81,KRT86c.1217A>C (p.Tyr406Ser)
c.1448A>C (p.Tyr483Ser)
c.-212+1961T>G (n.-212+1961T>G)
12g.52306250A>GCA384919246KRT81,KRT86c.1217A>G (p.Tyr406Cys)
c.1448A>G (p.Tyr483Cys)
c.-212+1961T>C (n.-212+1961T>C)
12g.52306250A>TCA384919247KRT81,KRT86c.1217A>T (p.Tyr406Phe)
c.1448A>T (p.Tyr483Phe)
c.-212+1961T>A (n.-212+1961T>A)
12g.52306251C>ACA384919248KRT81,KRT86c.1218C>A (p.Tyr406Ter)
c.1449C>A (p.Tyr483Ter)
c.-212+1960G>T (n.-212+1960G>T)
12g.52306251C=CA2036432516KRT81,KRT86c.1218C= (p.Tyr406=)
c.1449C= (p.Tyr483=)
c.-212+1960G= (n.-212+1960G=)
12g.52306251C>GCA384919249KRT81,KRT86c.1218C>G (p.Tyr406Ter)
c.1449C>G (p.Tyr483Ter)
c.-212+1960G>C (n.-212+1960G>C)
12g.52306251C>TCA479841667KRT81,KRT86c.1218C>T (p.Tyr406=)
c.1449C>T (p.Tyr483=)
c.-212+1960G>A (n.-212+1960G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.52306252A=CA2036432517KRT81,KRT86c.1219A= (p.Arg407=)
c.1450A= (p.Arg484=)
c.-212+1959T= (n.-212+1959T=)
12g.52306252A>CCA479841669KRT81,KRT86c.1219A>C (p.Arg407=)
c.1450A>C (p.Arg484=)
c.-212+1959T>G (n.-212+1959T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.52306252A>GCA384919251KRT81,KRT86c.1219A>G (p.Arg407Gly)
c.1450A>G (p.Arg484Gly)
c.-212+1959T>C (n.-212+1959T>C)
12g.52306252A>TCA384919250KRT81,KRT86c.1219A>T (p.Arg407Trp)
c.1450A>T (p.Arg484Trp)
c.-212+1959T>A (n.-212+1959T>A)
12g.52306253G>ACA384919252KRT81,KRT86c.1220G>A (p.Arg407Lys)
c.1451G>A (p.Arg484Lys)
c.-212+1958C>T (n.-212+1958C>T)
12g.52306253G>CCA384919253KRT81,KRT86c.1220G>C (p.Arg407Thr)
c.1451G>C (p.Arg484Thr)
c.-212+1958C>G (n.-212+1958C>G)
12g.52306253G>TCA384919254KRT81,KRT86c.1220G>T (p.Arg407Met)
c.1451G>T (p.Arg484Met)
c.-212+1958C>A (n.-212+1958C>A)
12g.52306254G>ACA479841677KRT81,KRT86c.1221G>A (p.Arg407=)
c.1452G>A (p.Arg484=)
c.-212+1957C>T (n.-212+1957C>T)
 gnomAD v4
12g.52306254G>CCA384919255KRT81,KRT86c.1221G>C (p.Arg407Ser)
c.1452G>C (p.Arg484Ser)
c.-212+1957C>G (n.-212+1957C>G)
12g.52306254G>TCA384919256KRT81,KRT86c.1221G>T (p.Arg407Ser)
c.1452G>T (p.Arg484Ser)
c.-212+1957C>A (n.-212+1957C>A)
12g.52306255C>ACA384919257KRT81,KRT86c.1222C>A (p.Arg408Ser)
c.1453C>A (p.Arg485Ser)
c.-212+1956G>T (n.-212+1956G>T)
12g.52306255C=CA2036432518KRT81,KRT86c.1222C= (p.Arg408=)
c.1453C= (p.Arg485=)
c.-212+1956G= (n.-212+1956G=)
12g.52306255C>GCA384919258KRT81,KRT86c.1222C>G (p.Arg408Gly)
c.1453C>G (p.Arg485Gly)
c.-212+1956G>C (n.-212+1956G>C)
 gnomAD v4
12g.52306255C>TCA6577105KRT81,KRT86c.1222C>T (p.Arg408Cys)
c.1453C>T (p.Arg485Cys)
c.-212+1956G>A (n.-212+1956G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306256G>ACA6577106KRT81,KRT86c.1223G>A (p.Arg408His)
c.1454G>A (p.Arg485His)
c.-212+1955C>T (n.-212+1955C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306256G>CCA384919259KRT81,KRT86c.1223G>C (p.Arg408Pro)
c.1454G>C (p.Arg485Pro)
c.-212+1955C>G (n.-212+1955C>G)
12g.52306256G=CA2036432519KRT81,KRT86c.1223G= (p.Arg408=)
c.1454G= (p.Arg485=)
c.-212+1955C= (n.-212+1955C=)
12g.52306256G>TCA384919260KRT81,KRT86c.1223G>T (p.Arg408Leu)
c.1454G>T (p.Arg485Leu)
c.-212+1955C>A (n.-212+1955C>A)
 gnomAD v4
12g.52306257C>ACA479841689KRT81,KRT86c.1224C>A (p.Arg408=)
c.1455C>A (p.Arg485=)
c.-212+1954G>T (n.-212+1954G>T)
12g.52306257C=CA2036432520KRT81,KRT86c.1224C= (p.Arg408=)
c.1455C= (p.Arg485=)
c.-212+1954G= (n.-212+1954G=)
12g.52306257C>GCA479841687KRT81,KRT86c.1224C>G (p.Arg408=)
c.1455C>G (p.Arg485=)
c.-212+1954G>C (n.-212+1954G>C)
12g.52306257C>TCA6577107KRT81,KRT86c.1224C>T (p.Arg408=)
c.1455C>T (p.Arg485=)
c.-212+1954G>A (n.-212+1954G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306258C>ACA384919262KRT81,KRT86c.1225C>A (p.Leu409Met)
c.1456C>A (p.Leu486Met)
c.-212+1953G>T (n.-212+1953G>T)
12g.52306258C>GCA384919261KRT81,KRT86c.1225C>G (p.Leu409Val)
c.1456C>G (p.Leu486Val)
c.-212+1953G>C (n.-212+1953G>C)
12g.52306258C>TCA479841694KRT81,KRT86c.1225C>T (p.Leu409=)
c.1456C>T (p.Leu486=)
c.-212+1953G>A (n.-212+1953G>A)
 gnomAD v4
12g.52306259T>ACA384919263KRT81,KRT86c.1226T>A (p.Leu409Gln)
c.1457T>A (p.Leu486Gln)
c.-212+1952A>T (n.-212+1952A>T)
12g.52306259T>CCA384919264KRT81,KRT86c.1226T>C (p.Leu409Pro)
c.1457T>C (p.Leu486Pro)
c.-212+1952A>G (n.-212+1952A>G)
12g.52306259T>GCA384919265KRT81,KRT86c.1226T>G (p.Leu409Arg)
c.1457T>G (p.Leu486Arg)
c.-212+1952A>C (n.-212+1952A>C)
12g.52306260G>ACA479841701KRT81,KRT86c.1227G>A (p.Leu409=)
c.1458G>A (p.Leu486=)
c.-212+1951C>T (n.-212+1951C>T)
12g.52306260G>CCA479841702KRT81,KRT86c.1227G>C (p.Leu409=)
c.1458G>C (p.Leu486=)
c.-212+1951C>G (n.-212+1951C>G)
12g.52306260G>TCA479841704KRT81,KRT86c.1227G>T (p.Leu409=)
c.1458G>T (p.Leu486=)
c.-212+1951C>A (n.-212+1951C>A)
 gnomAD v4
12g.52306261C>ACA384919266KRT81,KRT86c.1228C>A (p.Leu410Met)
c.1459C>A (p.Leu487Met)
c.-212+1950G>T (n.-212+1950G>T)
12g.52306261C=CA2036432521KRT81,KRT86c.1228C= (p.Leu410=)
c.1459C= (p.Leu487=)
c.-212+1950G= (n.-212+1950G=)
12g.52306261C>GCA384919267KRT81,KRT86c.1228C>G (p.Leu410Val)
c.1459C>G (p.Leu487Val)
c.-212+1950G>C (n.-212+1950G>C)
12g.52306261C>TCA6577108KRT81,KRT86c.1228C>T (p.Leu410=)
c.1459C>T (p.Leu487=)
c.-212+1950G>A (n.-212+1950G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306262T>ACA384919268KRT81,KRT86c.1229T>A (p.Leu410Gln)
c.1460T>A (p.Leu487Gln)
c.-212+1949A>T (n.-212+1949A>T)
12g.52306262T>CCA384919269KRT81,KRT86c.1229T>C (p.Leu410Pro)
c.1460T>C (p.Leu487Pro)
c.-212+1949A>G (n.-212+1949A>G)
12g.52306262T>GCA384919270KRT81,KRT86c.1229T>G (p.Leu410Arg)
c.1460T>G (p.Leu487Arg)
c.-212+1949A>C (n.-212+1949A>C)
12g.52306263G>ACA479841714KRT81,KRT86c.1230G>A (p.Leu410=)
c.1461G>A (p.Leu487=)
c.-212+1948C>T (n.-212+1948C>T)
12g.52306263G>CCA479841716KRT81,KRT86c.1230G>C (p.Leu410=)
c.1461G>C (p.Leu487=)
c.-212+1948C>G (n.-212+1948C>G)
12g.52306263G=CA2036432522KRT81,KRT86c.1230G= (p.Leu410=)
c.1461G= (p.Leu487=)
c.-212+1948C= (n.-212+1948C=)
12g.52306263G>TCA479841718KRT81,KRT86c.1230G>T (p.Leu410=)
c.1461G>T (p.Leu487=)
c.-212+1948C>A (n.-212+1948C>A)
 dbSNP gnomAD v4
12g.52306264G>ACA384919271KRT81,KRT86c.1231G>A (p.Glu411Lys)
c.1462G>A (p.Glu488Lys)
c.-212+1947C>T (n.-212+1947C>T)
12g.52306264G>CCA384919272KRT81,KRT86c.1231G>C (p.Glu411Gln)
c.1462G>C (p.Glu488Gln)
c.-212+1947C>G (n.-212+1947C>G)
12g.52306264G>TCA384919273KRT81,KRT86c.1231G>T (p.Glu411Ter)
c.1462G>T (p.Glu488Ter)
c.-212+1947C>A (n.-212+1947C>A)
12g.52306265A>CCA384919275KRT81,KRT86c.1232A>C (p.Glu411Ala)
c.1463A>C (p.Glu488Ala)
c.-212+1946T>G (n.-212+1946T>G)
12g.52306265A>GCA384919276KRT81,KRT86c.1232A>G (p.Glu411Gly)
c.1463A>G (p.Glu488Gly)
c.-212+1946T>C (n.-212+1946T>C)
12g.52306265A>TCA384919274KRT81,KRT86c.1232A>T (p.Glu411Val)
c.1463A>T (p.Glu488Val)
c.-212+1946T>A (n.-212+1946T>A)
12g.52306266G>ACA6577109KRT81,KRT86c.1233G>A (p.Glu411=)
c.1464G>A (p.Glu488=)
c.-212+1945C>T (n.-212+1945C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306266G>CCA384919277KRT81,KRT86c.1233G>C (p.Glu411Asp)
c.1464G>C (p.Glu488Asp)
c.-212+1945C>G (n.-212+1945C>G)
12g.52306266G=CA2036432523KRT81,KRT86c.1233G= (p.Glu411=)
c.1464G= (p.Glu488=)
c.-212+1945C= (n.-212+1945C=)
12g.52306266G>TCA384919278KRT81,KRT86c.1233G>T (p.Glu411Asp)
c.1464G>T (p.Glu488Asp)
c.-212+1945C>A (n.-212+1945C>A)
12g.52306267G>ACA384919279KRT81,KRT86c.1234G>A (p.Gly412Ser)
c.1465G>A (p.Gly489Ser)
c.-212+1944C>T (n.-212+1944C>T)
12g.52306267G>CCA384919280KRT81,KRT86c.1234G>C (p.Gly412Arg)
c.1465G>C (p.Gly489Arg)
c.-212+1944C>G (n.-212+1944C>G)
12g.52306267G>TCA384919281KRT81,KRT86c.1234G>T (p.Gly412Cys)
c.1465G>T (p.Gly489Cys)
c.-212+1944C>A (n.-212+1944C>A)
12g.52306268G>ACA237206506KRT81,KRT86c.1235G>A (p.Gly412Asp)
c.1466G>A (p.Gly489Asp)
c.-212+1943C>T (n.-212+1943C>T)
 dbSNP
12g.52306268G>CCA384919283KRT81,KRT86c.1235G>C (p.Gly412Ala)
c.1466G>C (p.Gly489Ala)
c.-212+1943C>G (n.-212+1943C>G)
12g.52306268G=CA2036432524KRT81,KRT86c.1235G= (p.Gly412=)
c.1466G= (p.Gly489=)
c.-212+1943C= (n.-212+1943C=)
12g.52306268G>TCA384919282KRT81,KRT86c.1235G>T (p.Gly412Val)
c.1466G>T (p.Gly489Val)
c.-212+1943C>A (n.-212+1943C>A)
 dbSNP gnomAD v4
12g.52306269delCA2618906245KRT81,KRT86c.1236del (p.Glu413ArgfsTer12)
c.1467del (p.Glu490ArgfsTer12)
c.-212+1942del (n.-212+1942del)
 gnomAD v4
12g.52306269C>ACA6577111KRT81,KRT86c.1236C>A (p.Gly412=)
c.1467C>A (p.Gly489=)
c.-212+1942G>T (n.-212+1942G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.52306269C=CA2036432525KRT81,KRT86c.1236C= (p.Gly412=)
c.1467C= (p.Gly489=)
c.-212+1942G= (n.-212+1942G=)
12g.52306269C>GCA479841740KRT81,KRT86c.1236C>G (p.Gly412=)
c.1467C>G (p.Gly489=)
c.-212+1942G>C (n.-212+1942G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.52306269C>TCA6577110KRT81,KRT86c.1236C>T (p.Gly412=)
c.1467C>T (p.Gly489=)
c.-212+1942G>A (n.-212+1942G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.52306270G>ACA118924KRT81,KRT86c.1237G>A (p.Glu413Lys)
c.1468G>A (p.Glu490Lys)
c.-212+1941C>T (n.-212+1941C>T)
 ClinVar dbSNP gnomAD v4
12g.52306270G>CCA384919284KRT81,KRT86c.1237G>C (p.Glu413Gln)
c.1468G>C (p.Glu490Gln)
c.-212+1941C>G (n.-212+1941C>G)
12g.52306270G=CA2036432526KRT81,KRT86c.1237G= (p.Glu413=)
c.1468G= (p.Glu490=)
c.-212+1941C= (n.-212+1941C=)
12g.52306270G>TCA384919285KRT81,KRT86c.1237G>T (p.Glu413Ter)
c.1468G>T (p.Glu490Ter)
c.-212+1941C>A (n.-212+1941C>A)
12g.52306271A>CCA384919287KRT81,KRT86c.1238A>C (p.Glu413Ala)
c.1469A>C (p.Glu490Ala)
c.-212+1940T>G (n.-212+1940T>G)
12g.52306271A>GCA384919288KRT81,KRT86c.1238A>G (p.Glu413Gly)
c.1469A>G (p.Glu490Gly)
c.-212+1940T>C (n.-212+1940T>C)
12g.52306271A>TCA384919286KRT81,KRT86c.1238A>T (p.Glu413Val)
c.1469A>T (p.Glu490Val)
c.-212+1940T>A (n.-212+1940T>A)
12g.52306272G>ACA479841754KRT81,KRT86c.1239G>A (p.Glu413=)
c.1470G>A (p.Glu490=)
c.-212+1939C>T (n.-212+1939C>T)
12g.52306272G>CCA384919289KRT81,KRT86c.1239G>C (p.Glu413Asp)
c.1470G>C (p.Glu490Asp)
c.-212+1939C>G (n.-212+1939C>G)
12g.52306272G=CA2036432527KRT81,KRT86c.1239G= (p.Glu413=)
c.1470G= (p.Glu490=)
c.-212+1939C= (n.-212+1939C=)
12g.52306272G>TCA118925KRT81,KRT86c.1239G>T (p.Glu413Asp)
c.1470G>T (p.Glu490Asp)
c.-212+1939C>A (n.-212+1939C>A)
 ClinVar dbSNP
12g.52306273G>ACA384919290KRT81,KRT86c.1240G>A (p.Glu414Lys)
c.1471G>A (p.Glu491Lys)
c.-212+1938C>T (n.-212+1938C>T)
12g.52306273G>CCA384919291KRT81,KRT86c.1240G>C (p.Glu414Gln)
c.1471G>C (p.Glu491Gln)
c.-212+1938C>G (n.-212+1938C>G)
 dbSNP
12g.52306273G=CA2036432528KRT81,KRT86c.1240G= (p.Glu414=)
c.1471G= (p.Glu491=)
c.-212+1938C= (n.-212+1938C=)
12g.52306273G>TCA384919292KRT81,KRT86c.1240G>T (p.Glu414Ter)
c.1471G>T (p.Glu491Ter)
c.-212+1938C>A (n.-212+1938C>A)
12g.52306274A>CCA384919293KRT81,KRT86c.1241A>C (p.Glu414Ala)
c.1472A>C (p.Glu491Ala)
c.-212+1937T>G (n.-212+1937T>G)
12g.52306274A>GCA384919294KRT81,KRT86c.1241A>G (p.Glu414Gly)
c.1472A>G (p.Glu491Gly)
c.-212+1937T>C (n.-212+1937T>C)
12g.52306274A>TCA384919295KRT81,KRT86c.1241A>T (p.Glu414Val)
c.1472A>T (p.Glu491Val)
c.-212+1937T>A (n.-212+1937T>A)
12g.52306275G>ACA479841764KRT81,KRT86c.1242G>A (p.Glu414=)
c.1473G>A (p.Glu491=)
c.-212+1936C>T (n.-212+1936C>T)
12g.52306275G>CCA384919296KRT81,KRT86c.1242G>C (p.Glu414Asp)
c.1473G>C (p.Glu491Asp)
c.-212+1936C>G (n.-212+1936C>G)
12g.52306275G=CA2036432529KRT81,KRT86c.1242G= (p.Glu414=)
c.1473G= (p.Glu491=)
c.-212+1936C= (n.-212+1936C=)
12g.52306275G>TCA384919297KRT81,KRT86c.1242G>T (p.Glu414Asp)
c.1473G>T (p.Glu491Asp)
c.-212+1936C>A (n.-212+1936C>A)
 dbSNP
12g.52306276C>ACA384919298KRT81,KRT86c.1243C>A (p.Gln415Lys)
c.1474C>A (p.Gln492Lys)
c.-212+1935G>T (n.-212+1935G>T)
12g.52306276C>GCA384919299KRT81,KRT86c.1243C>G (p.Gln415Glu)
c.1474C>G (p.Gln492Glu)
c.-212+1935G>C (n.-212+1935G>C)
12g.52306276C>TCA384919300KRT81,KRT86c.1243C>T (p.Gln415Ter)
c.1474C>T (p.Gln492Ter)
c.-212+1935G>A (n.-212+1935G>A)
12g.52306277A>CCA384919301KRT81,KRT86c.1244A>C (p.Gln415Pro)
c.1475A>C (p.Gln492Pro)
c.-212+1934T>G (n.-212+1934T>G)
12g.52306277A>GCA384919302KRT81,KRT86c.1244A>G (p.Gln415Arg)
c.1475A>G (p.Gln492Arg)
c.-212+1934T>C (n.-212+1934T>C)
12g.52306277A>TCA384919303KRT81,KRT86c.1244A>T (p.Gln415Leu)
c.1475A>T (p.Gln492Leu)
c.-212+1934T>A (n.-212+1934T>A)
12g.52306277_52306278delinsAGCA2036432530KRT81,KRT86c.1244_1245delinsAG (p.Gln415=)
c.1475_1476delinsAG (p.Gln492=)
c.-212+1933_-212+1934delinsCT (n.-212+1933_-212+1934delinsCT)

Number of alleles fetched