Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.52306172A>C | CA384919073 | KRT81,KRT86 | c.1139A>C (p.Gln380Pro) c.1370A>C (p.Gln457Pro) c.-212+2039T>G (n.-212+2039T>G) | |
12 | g.52306172A>G | CA384919074 | KRT81,KRT86 | c.1139A>G (p.Gln380Arg) c.1370A>G (p.Gln457Arg) c.-212+2039T>C (n.-212+2039T>C) | |
12 | g.52306172A>T | CA384919075 | KRT81,KRT86 | c.1139A>T (p.Gln380Leu) c.1370A>T (p.Gln457Leu) c.-212+2039T>A (n.-212+2039T>A) | |
12 | g.52306173G>A | CA479841311 | KRT81,KRT86 | c.1140G>A (p.Gln380=) c.1371G>A (p.Gln457=) c.-212+2038C>T (n.-212+2038C>T) | |
12 | g.52306173G>C | CA384919077 | KRT81,KRT86 | c.1140G>C (p.Gln380His) c.1371G>C (p.Gln457His) c.-212+2038C>G (n.-212+2038C>G) | |
12 | g.52306173G>T | CA384919076 | KRT81,KRT86 | c.1140G>T (p.Gln380His) c.1371G>T (p.Gln457His) c.-212+2038C>A (n.-212+2038C>A) | |
12 | g.52306174del | CA2575163453 | KRT81,KRT86 | c.1141del (p.Asp381ThrfsTer5) c.1372del (p.Asp458ThrfsTer5) c.-212+2038del (n.-212+2038del) | gnomAD v4 |
12 | g.52306174G>A | CA384919078 | KRT81,KRT86 | c.1141G>A (p.Asp381Asn) c.1372G>A (p.Asp458Asn) c.-212+2037C>T (n.-212+2037C>T) | gnomAD v4 |
12 | g.52306174G>C | CA384919079 | KRT81,KRT86 | c.1141G>C (p.Asp381His) c.1372G>C (p.Asp458His) c.-212+2037C>G (n.-212+2037C>G) | |
12 | g.52306174G= | CA2036432481 | KRT81,KRT86 | c.1141G= (p.Asp381=) c.1372G= (p.Asp458=) c.-212+2037C= (n.-212+2037C=) | |
12 | g.52306174G>T | CA384919080 | KRT81,KRT86 | c.1141G>T (p.Asp381Tyr) c.1372G>T (p.Asp458Tyr) c.-212+2037C>A (n.-212+2037C>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306175A= | CA2036432482 | KRT81,KRT86 | c.1142A= (p.Asp381=) c.1373A= (p.Asp458=) c.-212+2036T= (n.-212+2036T=) | |
12 | g.52306175A>C | CA384919081 | KRT81,KRT86 | c.1142A>C (p.Asp381Ala) c.1373A>C (p.Asp458Ala) c.-212+2036T>G (n.-212+2036T>G) | |
12 | g.52306175A>G | CA384919082 | KRT81,KRT86 | c.1142A>G (p.Asp381Gly) c.1373A>G (p.Asp458Gly) c.-212+2036T>C (n.-212+2036T>C) | |
12 | g.52306175A>T | CA384919083 | KRT81,KRT86 | c.1142A>T (p.Asp381Val) c.1373A>T (p.Asp458Val) c.-212+2036T>A (n.-212+2036T>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306176C>A | CA384919085 | KRT81,KRT86 | c.1143C>A (p.Asp381Glu) c.1374C>A (p.Asp458Glu) c.-212+2035G>T (n.-212+2035G>T) | |
12 | g.52306176C>G | CA384919084 | KRT81,KRT86 | c.1143C>G (p.Asp381Glu) c.1374C>G (p.Asp458Glu) c.-212+2035G>C (n.-212+2035G>C) | |
12 | g.52306176C>T | CA479841326 | KRT81,KRT86 | c.1143C>T (p.Asp381=) c.1374C>T (p.Asp458=) c.-212+2035G>A (n.-212+2035G>A) | |
12 | g.52306177A= | CA2036432483 | KRT81,KRT86 | c.1144A= (p.Met382=) c.1375A= (p.Met459=) c.-212+2034T= (n.-212+2034T=) | |
12 | g.52306177A>C | CA384919086 | KRT81,KRT86 | c.1144A>C (p.Met382Leu) c.1375A>C (p.Met459Leu) c.-212+2034T>G (n.-212+2034T>G) | |
12 | g.52306177A>G | CA384919087 | KRT81,KRT86 | c.1144A>G (p.Met382Val) c.1375A>G (p.Met459Val) c.-212+2034T>C (n.-212+2034T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306177A>T | CA384919088 | KRT81,KRT86 | c.1144A>T (p.Met382Leu) c.1375A>T (p.Met459Leu) c.-212+2034T>A (n.-212+2034T>A) | gnomAD v4 |
12 | g.52306178T>A | CA384919089 | KRT81,KRT86 | c.1145T>A (p.Met382Lys) c.1376T>A (p.Met459Lys) c.-212+2033A>T (n.-212+2033A>T) | |
12 | g.52306178T>C | CA384919090 | KRT81,KRT86 | c.1145T>C (p.Met382Thr) c.1376T>C (p.Met459Thr) c.-212+2033A>G (n.-212+2033A>G) | gnomAD v4 |
12 | g.52306178T>G | CA6577089 | KRT81,KRT86 | c.1145T>G (p.Met382Arg) c.1376T>G (p.Met459Arg) c.-212+2033A>C (n.-212+2033A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306178T= | CA2036432484 | KRT81,KRT86 | c.1145T= (p.Met382=) c.1376T= (p.Met459=) c.-212+2033A= (n.-212+2033A=) | |
12 | g.52306179G>A | CA384919091 | KRT81,KRT86 | c.1146G>A (p.Met382Ile) c.1377G>A (p.Met459Ile) c.-212+2032C>T (n.-212+2032C>T) | gnomAD v4 |
12 | g.52306179G>C | CA384919093 | KRT81,KRT86 | c.1146G>C (p.Met382Ile) c.1377G>C (p.Met459Ile) c.-212+2032C>G (n.-212+2032C>G) | |
12 | g.52306179G>T | CA384919092 | KRT81,KRT86 | c.1146G>T (p.Met382Ile) c.1377G>T (p.Met459Ile) c.-212+2032C>A (n.-212+2032C>A) | |
12 | g.52306180G>A | CA384919094 | KRT81,KRT86 | c.1147G>A (p.Ala383Thr) c.1378G>A (p.Ala460Thr) c.-212+2031C>T (n.-212+2031C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306180G>C | CA384919095 | KRT81,KRT86 | c.1147G>C (p.Ala383Pro) c.1378G>C (p.Ala460Pro) c.-212+2031C>G (n.-212+2031C>G) | |
12 | g.52306180G= | CA2036432485 | KRT81,KRT86 | c.1147G= (p.Ala383=) c.1378G= (p.Ala460=) c.-212+2031C= (n.-212+2031C=) | |
12 | g.52306180G>T | CA384919096 | KRT81,KRT86 | c.1147G>T (p.Ala383Ser) c.1378G>T (p.Ala460Ser) c.-212+2031C>A (n.-212+2031C>A) | |
12 | g.52306181C>A | CA384919097 | KRT81,KRT86 | c.1148C>A (p.Ala383Asp) c.1379C>A (p.Ala460Asp) c.-212+2030G>T (n.-212+2030G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306181C= | CA2036432486 | KRT81,KRT86 | c.1148C= (p.Ala383=) c.1379C= (p.Ala460=) c.-212+2030G= (n.-212+2030G=) | |
12 | g.52306181C>G | CA384919098 | KRT81,KRT86 | c.1148C>G (p.Ala383Gly) c.1379C>G (p.Ala460Gly) c.-212+2030G>C (n.-212+2030G>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306181C>T | CA384919099 | KRT81,KRT86 | c.1148C>T (p.Ala383Val) c.1379C>T (p.Ala460Val) c.-212+2030G>A (n.-212+2030G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306182C>A | CA479841353 | KRT81,KRT86 | c.1149C>A (p.Ala383=) c.1380C>A (p.Ala460=) c.-212+2029G>T (n.-212+2029G>T) | |
12 | g.52306182C>G | CA479841355 | KRT81,KRT86 | c.1149C>G (p.Ala383=) c.1380C>G (p.Ala460=) c.-212+2029G>C (n.-212+2029G>C) | |
12 | g.52306182C>T | CA479841351 | KRT81,KRT86 | c.1149C>T (p.Ala383=) c.1380C>T (p.Ala460=) c.-212+2029G>A (n.-212+2029G>A) | |
12 | g.52306183_52306185dup | CA605239794 | KRT81,KRT86 | c.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 |
12 | g.52306183T>A | CA384919100 | KRT81,KRT86 | c.1150T>A (p.Cys384Ser) c.1381T>A (p.Cys461Ser) c.-212+2028A>T (n.-212+2028A>T) | |
12 | g.52306183T>C | CA384919101 | KRT81,KRT86 | c.1150T>C (p.Cys384Arg) c.1381T>C (p.Cys461Arg) c.-212+2028A>G (n.-212+2028A>G) | |
12 | g.52306183T>G | CA384919102 | KRT81,KRT86 | c.1150T>G (p.Cys384Gly) c.1381T>G (p.Cys461Gly) c.-212+2028A>C (n.-212+2028A>C) | |
12 | g.52306184G>A | CA384919103 | KRT81,KRT86 | c.1151G>A (p.Cys384Tyr) c.1382G>A (p.Cys461Tyr) c.-212+2027C>T (n.-212+2027C>T) | gnomAD v4 |
12 | g.52306184G>C | CA384919104 | KRT81,KRT86 | c.1151G>C (p.Cys384Ser) c.1382G>C (p.Cys461Ser) c.-212+2027C>G (n.-212+2027C>G) | |
12 | g.52306184G>T | CA384919105 | KRT81,KRT86 | c.1151G>T (p.Cys384Phe) c.1382G>T (p.Cys461Phe) c.-212+2027C>A (n.-212+2027C>A) | |
12 | g.52306185C>A | CA384919106 | KRT81,KRT86 | c.1152C>A (p.Cys384Ter) c.1383C>A (p.Cys461Ter) c.-212+2026G>T (n.-212+2026G>T) | dbSNP |
12 | g.52306185C= | CA2036432487 | KRT81,KRT86 | c.1152C= (p.Cys384=) c.1383C= (p.Cys461=) c.-212+2026G= (n.-212+2026G=) | |
12 | g.52306185C>G | CA384919107 | KRT81,KRT86 | c.1152C>G (p.Cys384Trp) c.1383C>G (p.Cys461Trp) c.-212+2026G>C (n.-212+2026G>C) | |
12 | g.52306185C>T | CA479841366 | KRT81,KRT86 | c.1152C>T (p.Cys384=) c.1383C>T (p.Cys461=) c.-212+2026G>A (n.-212+2026G>A) | |
12 | g.52306186C>A | CA384919108 | KRT81,KRT86 | c.1153C>A (p.Leu385Met) c.1384C>A (p.Leu462Met) c.-212+2025G>T (n.-212+2025G>T) | |
12 | g.52306186C>G | CA384919109 | KRT81,KRT86 | c.1153C>G (p.Leu385Val) c.1384C>G (p.Leu462Val) c.-212+2025G>C (n.-212+2025G>C) | |
12 | g.52306186C>T | CA479841372 | KRT81,KRT86 | c.1153C>T (p.Leu385=) c.1384C>T (p.Leu462=) c.-212+2025G>A (n.-212+2025G>A) | |
12 | g.52306187T>A | CA384919110 | KRT81,KRT86 | c.1154T>A (p.Leu385Gln) c.1385T>A (p.Leu462Gln) c.-212+2024A>T (n.-212+2024A>T) | |
12 | g.52306187T>C | CA384919111 | KRT81,KRT86 | c.1154T>C (p.Leu385Pro) c.1385T>C (p.Leu462Pro) c.-212+2024A>G (n.-212+2024A>G) | gnomAD v4 |
12 | g.52306187T>G | CA384919112 | KRT81,KRT86 | c.1154T>G (p.Leu385Arg) c.1385T>G (p.Leu462Arg) c.-212+2024A>C (n.-212+2024A>C) | |
12 | g.52306188G>A | CA479841380 | KRT81,KRT86 | c.1155G>A (p.Leu385=) c.1386G>A (p.Leu462=) c.-212+2023C>T (n.-212+2023C>T) | |
12 | g.52306188G>C | CA479841385 | KRT81,KRT86 | c.1155G>C (p.Leu385=) c.1386G>C (p.Leu462=) c.-212+2023C>G (n.-212+2023C>G) | |
12 | g.52306188G>T | CA479841383 | KRT81,KRT86 | c.1155G>T (p.Leu385=) c.1386G>T (p.Leu462=) c.-212+2023C>A (n.-212+2023C>A) | |
12 | g.52306189A= | CA2036432488 | KRT81,KRT86 | c.1156A= (p.Ile386=) c.1387A= (p.Ile463=) c.-212+2022T= (n.-212+2022T=) | |
12 | g.52306189A>C | CA6577090 | KRT81,KRT86 | c.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 |
12 | g.52306189A>G | CA384919113 | KRT81,KRT86 | c.1156A>G (p.Ile386Val) c.1387A>G (p.Ile463Val) c.-212+2022T>C (n.-212+2022T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306189A>T | CA384919114 | KRT81,KRT86 | c.1156A>T (p.Ile386Phe) c.1387A>T (p.Ile463Phe) c.-212+2022T>A (n.-212+2022T>A) | |
12 | g.52306190T>A | CA384919115 | KRT81,KRT86 | c.1157T>A (p.Ile386Asn) c.1388T>A (p.Ile463Asn) c.-212+2021A>T (n.-212+2021A>T) | |
12 | g.52306190T>C | CA384919116 | KRT81,KRT86 | c.1157T>C (p.Ile386Thr) c.1388T>C (p.Ile463Thr) c.-212+2021A>G (n.-212+2021A>G) | |
12 | g.52306190T>G | CA384919117 | KRT81,KRT86 | c.1157T>G (p.Ile386Ser) c.1388T>G (p.Ile463Ser) c.-212+2021A>C (n.-212+2021A>C) | |
12 | g.52306191C>A | CA479841397 | KRT81,KRT86 | c.1158C>A (p.Ile386=) c.1389C>A (p.Ile463=) c.-212+2020G>T (n.-212+2020G>T) | |
12 | g.52306191C>G | CA384919118 | KRT81,KRT86 | c.1158C>G (p.Ile386Met) c.1389C>G (p.Ile463Met) c.-212+2020G>C (n.-212+2020G>C) | |
12 | g.52306191C>T | CA479841401 | KRT81,KRT86 | c.1158C>T (p.Ile386=) c.1389C>T (p.Ile463=) c.-212+2020G>A (n.-212+2020G>A) | gnomAD v4 |
12 | g.52306192A= | CA2036432489 | KRT81,KRT86 | c.1159A= (p.Arg387=) c.1390A= (p.Arg464=) c.-212+2019T= (n.-212+2019T=) | |
12 | g.52306192A>C | CA479841404 | KRT81,KRT86 | c.1159A>C (p.Arg387=) c.1390A>C (p.Arg464=) c.-212+2019T>G (n.-212+2019T>G) | |
12 | g.52306192A>G | CA384919119 | KRT81,KRT86 | c.1159A>G (p.Arg387Gly) c.1390A>G (p.Arg464Gly) c.-212+2019T>C (n.-212+2019T>C) | |
12 | g.52306192A>T | CA6577091 | KRT81,KRT86 | c.1159A>T (p.Arg387Trp) c.1390A>T (p.Arg464Trp) c.-212+2019T>A (n.-212+2019T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306193G>A | CA6577092 | KRT81,KRT86 | c.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 |
12 | g.52306193G>C | CA384919121 | KRT81,KRT86 | c.1160G>C (p.Arg387Thr) c.1391G>C (p.Arg464Thr) c.-212+2018C>G (n.-212+2018C>G) | |
12 | g.52306193G= | CA2036432490 | KRT81,KRT86 | c.1160G= (p.Arg387=) c.1391G= (p.Arg464=) c.-212+2018C= (n.-212+2018C=) | |
12 | g.52306193G>T | CA384919120 | KRT81,KRT86 | c.1160G>T (p.Arg387Met) c.1391G>T (p.Arg464Met) c.-212+2018C>A (n.-212+2018C>A) | |
12 | g.52306194G>A | CA479841413 | KRT81,KRT86 | c.1161G>A (p.Arg387=) c.1392G>A (p.Arg464=) c.-212+2017C>T (n.-212+2017C>T) | |
12 | g.52306194G>C | CA384919123 | KRT81,KRT86 | c.1161G>C (p.Arg387Ser) c.1392G>C (p.Arg464Ser) c.-212+2017C>G (n.-212+2017C>G) | dbSNP |
12 | g.52306194G= | CA2036432491 | KRT81,KRT86 | c.1161G= (p.Arg387=) c.1392G= (p.Arg464=) c.-212+2017C= (n.-212+2017C=) | |
12 | g.52306194G>T | CA384919122 | KRT81,KRT86 | c.1161G>T (p.Arg387Ser) c.1392G>T (p.Arg464Ser) c.-212+2017C>A (n.-212+2017C>A) | |
12 | g.52306195G>A | CA384919126 | KRT81,KRT86 | c.1162G>A (p.Glu388Lys) c.1393G>A (p.Glu465Lys) c.-212+2016C>T (n.-212+2016C>T) | COSMIC |
12 | g.52306195G>C | CA384919124 | KRT81,KRT86 | c.1162G>C (p.Glu388Gln) c.1393G>C (p.Glu465Gln) c.-212+2016C>G (n.-212+2016C>G) | |
12 | g.52306195G>T | CA384919125 | KRT81,KRT86 | c.1162G>T (p.Glu388Ter) c.1393G>T (p.Glu465Ter) c.-212+2016C>A (n.-212+2016C>A) | |
12 | g.52306196A>C | CA384919127 | KRT81,KRT86 | c.1163A>C (p.Glu388Ala) c.1394A>C (p.Glu465Ala) c.-212+2015T>G (n.-212+2015T>G) | |
12 | g.52306196A>G | CA384919128 | KRT81,KRT86 | c.1163A>G (p.Glu388Gly) c.1394A>G (p.Glu465Gly) c.-212+2015T>C (n.-212+2015T>C) | |
12 | g.52306196A>T | CA384919129 | KRT81,KRT86 | c.1163A>T (p.Glu388Val) c.1394A>T (p.Glu465Val) c.-212+2015T>A (n.-212+2015T>A) | |
12 | g.52306197G>A | CA6577093 | KRT81,KRT86 | c.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 |
12 | g.52306197G>C | CA6577094 | KRT81,KRT86 | c.1164G>C (p.Glu388Asp) c.1395G>C (p.Glu465Asp) c.-212+2014C>G (n.-212+2014C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306197G= | CA2036432492 | KRT81,KRT86 | c.1164G= (p.Glu388=) c.1395G= (p.Glu465=) c.-212+2014C= (n.-212+2014C=) | |
12 | g.52306197G>T | CA384919130 | KRT81,KRT86 | c.1164G>T (p.Glu388Asp) c.1395G>T (p.Glu465Asp) c.-212+2014C>A (n.-212+2014C>A) | COSMIC |
12 | g.52306198T>A | CA384919131 | KRT81,KRT86 | c.1165T>A (p.Tyr389Asn) c.1396T>A (p.Tyr466Asn) c.-212+2013A>T (n.-212+2013A>T) | |
12 | g.52306198T>C | CA384919132 | KRT81,KRT86 | c.1165T>C (p.Tyr389His) c.1396T>C (p.Tyr466His) c.-212+2013A>G (n.-212+2013A>G) | |
12 | g.52306198T>G | CA384919133 | KRT81,KRT86 | c.1165T>G (p.Tyr389Asp) c.1396T>G (p.Tyr466Asp) c.-212+2013A>C (n.-212+2013A>C) | |
12 | g.52306199A>C | CA384919136 | KRT81,KRT86 | c.1166A>C (p.Tyr389Ser) c.1397A>C (p.Tyr466Ser) c.-212+2012T>G (n.-212+2012T>G) | |
12 | g.52306199A>G | CA384919135 | KRT81,KRT86 | c.1166A>G (p.Tyr389Cys) c.1397A>G (p.Tyr466Cys) c.-212+2012T>C (n.-212+2012T>C) | |
12 | g.52306199A>T | CA384919134 | KRT81,KRT86 | c.1166A>T (p.Tyr389Phe) c.1397A>T (p.Tyr466Phe) c.-212+2012T>A (n.-212+2012T>A) | |
12 | g.52306200C>A | CA384919137 | KRT81,KRT86 | c.1167C>A (p.Tyr389Ter) c.1398C>A (p.Tyr466Ter) c.-212+2011G>T (n.-212+2011G>T) | |
12 | g.52306200C>G | CA384919138 | KRT81,KRT86 | c.1167C>G (p.Tyr389Ter) c.1398C>G (p.Tyr466Ter) c.-212+2011G>C (n.-212+2011G>C) | gnomAD v4 |
12 | g.52306200C>T | CA479841442 | KRT81,KRT86 | c.1167C>T (p.Tyr389=) c.1398C>T (p.Tyr466=) c.-212+2011G>A (n.-212+2011G>A) | gnomAD v4 |
12 | g.52306201C>A | CA384919139 | KRT81,KRT86 | c.1168C>A (p.Gln390Lys) c.1399C>A (p.Gln467Lys) c.-212+2010G>T (n.-212+2010G>T) | |
12 | g.52306201C= | CA2036432493 | KRT81,KRT86 | c.1168C= (p.Gln390=) c.1399C= (p.Gln467=) c.-212+2010G= (n.-212+2010G=) | |
12 | g.52306201C>G | CA384919140 | KRT81,KRT86 | c.1168C>G (p.Gln390Glu) c.1399C>G (p.Gln467Glu) c.-212+2010G>C (n.-212+2010G>C) | |
12 | g.52306201C>T | CA384919141 | KRT81,KRT86 | c.1168C>T (p.Gln390Ter) c.1399C>T (p.Gln467Ter) c.-212+2010G>A (n.-212+2010G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306202A= | CA2036432494 | KRT81,KRT86 | c.1169A= (p.Gln390=) c.1400A= (p.Gln467=) c.-212+2009T= (n.-212+2009T=) | |
12 | g.52306202A>C | CA384919142 | KRT81,KRT86 | c.1169A>C (p.Gln390Pro) c.1400A>C (p.Gln467Pro) c.-212+2009T>G (n.-212+2009T>G) | |
12 | g.52306202A>G | CA6577095 | KRT81,KRT86 | c.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 |
12 | g.52306202A>T | CA384919143 | KRT81,KRT86 | c.1169A>T (p.Gln390Leu) c.1400A>T (p.Gln467Leu) c.-212+2009T>A (n.-212+2009T>A) | |
12 | g.52306203G>A | CA479841456 | KRT81,KRT86 | c.1170G>A (p.Gln390=) c.1401G>A (p.Gln467=) c.-212+2008C>T (n.-212+2008C>T) | |
12 | g.52306203G>C | CA384919144 | KRT81,KRT86 | c.1170G>C (p.Gln390His) c.1401G>C (p.Gln467His) c.-212+2008C>G (n.-212+2008C>G) | |
12 | g.52306203G>T | CA384919145 | KRT81,KRT86 | c.1170G>T (p.Gln390His) c.1401G>T (p.Gln467His) c.-212+2008C>A (n.-212+2008C>A) | |
12 | g.52306204G>A | CA384919146 | KRT81,KRT86 | c.1171G>A (p.Glu391Lys) c.1402G>A (p.Glu468Lys) c.-212+2007C>T (n.-212+2007C>T) | |
12 | g.52306204G>C | CA384919147 | KRT81,KRT86 | c.1171G>C (p.Glu391Gln) c.1402G>C (p.Glu468Gln) c.-212+2007C>G (n.-212+2007C>G) | |
12 | g.52306204G>T | CA384919148 | KRT81,KRT86 | c.1171G>T (p.Glu391Ter) c.1402G>T (p.Glu468Ter) c.-212+2007C>A (n.-212+2007C>A) | |
12 | g.52306205A>C | CA384919151 | KRT81,KRT86 | c.1172A>C (p.Glu391Ala) c.1403A>C (p.Glu468Ala) c.-212+2006T>G (n.-212+2006T>G) | |
12 | g.52306205A>G | CA384919150 | KRT81,KRT86 | c.1172A>G (p.Glu391Gly) c.1403A>G (p.Glu468Gly) c.-212+2006T>C (n.-212+2006T>C) | |
12 | g.52306205A>T | CA384919149 | KRT81,KRT86 | c.1172A>T (p.Glu391Val) c.1403A>T (p.Glu468Val) c.-212+2006T>A (n.-212+2006T>A) | |
12 | g.52306206G>A | CA479841472 | KRT81,KRT86 | c.1173G>A (p.Glu391=) c.1404G>A (p.Glu468=) c.-212+2005C>T (n.-212+2005C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306206G>C | CA384919153 | KRT81,KRT86 | c.1173G>C (p.Glu391Asp) c.1404G>C (p.Glu468Asp) c.-212+2005C>G (n.-212+2005C>G) | |
12 | g.52306206G= | CA2036432495 | KRT81,KRT86 | c.1173G= (p.Glu391=) c.1404G= (p.Glu468=) c.-212+2005C= (n.-212+2005C=) | |
12 | g.52306206G>T | CA384919152 | KRT81,KRT86 | c.1173G>T (p.Glu391Asp) c.1404G>T (p.Glu468Asp) c.-212+2005C>A (n.-212+2005C>A) | |
12 | g.52306207G>A | CA384919154 | KRT81,KRT86 | c.1174G>A (p.Val392Met) c.1405G>A (p.Val469Met) c.-212+2004C>T (n.-212+2004C>T) | |
12 | g.52306207G>C | CA384919155 | KRT81,KRT86 | c.1174G>C (p.Val392Leu) c.1405G>C (p.Val469Leu) c.-212+2004C>G (n.-212+2004C>G) | |
12 | g.52306207G>T | CA384919156 | KRT81,KRT86 | c.1174G>T (p.Val392Leu) c.1405G>T (p.Val469Leu) c.-212+2004C>A (n.-212+2004C>A) | gnomAD v4 COSMIC |
12 | g.52306208T>A | CA384919157 | KRT81,KRT86 | c.1175T>A (p.Val392Glu) c.1406T>A (p.Val469Glu) c.-212+2003A>T (n.-212+2003A>T) | |
12 | g.52306208T>C | CA384919158 | KRT81,KRT86 | c.1175T>C (p.Val392Ala) c.1406T>C (p.Val469Ala) c.-212+2003A>G (n.-212+2003A>G) | |
12 | g.52306208T>G | CA384919159 | KRT81,KRT86 | c.1175T>G (p.Val392Gly) c.1406T>G (p.Val469Gly) c.-212+2003A>C (n.-212+2003A>C) | dbSNP |
12 | g.52306208T= | CA2036432496 | KRT81,KRT86 | c.1175T= (p.Val392=) c.1406T= (p.Val469=) c.-212+2003A= (n.-212+2003A=) | |
12 | g.52306209G>A | CA479841484 | KRT81,KRT86 | c.1176G>A (p.Val392=) c.1407G>A (p.Val469=) c.-212+2002C>T (n.-212+2002C>T) | |
12 | g.52306209G>C | CA479841485 | KRT81,KRT86 | c.1176G>C (p.Val392=) c.1407G>C (p.Val469=) c.-212+2002C>G (n.-212+2002C>G) | |
12 | g.52306209G>T | CA479841488 | KRT81,KRT86 | c.1176G>T (p.Val392=) c.1407G>T (p.Val469=) c.-212+2002C>A (n.-212+2002C>A) | |
12 | g.52306210A>C | CA384919160 | KRT81,KRT86 | c.1177A>C (p.Met393Leu) c.1408A>C (p.Met470Leu) c.-212+2001T>G (n.-212+2001T>G) | |
12 | g.52306210A>G | CA384919161 | KRT81,KRT86 | c.1177A>G (p.Met393Val) c.1408A>G (p.Met470Val) c.-212+2001T>C (n.-212+2001T>C) | |
12 | g.52306210A>T | CA384919162 | KRT81,KRT86 | c.1177A>T (p.Met393Leu) c.1408A>T (p.Met470Leu) c.-212+2001T>A (n.-212+2001T>A) | |
12 | g.52306210_52306211delinsAT | CA2036432497 | KRT81,KRT86 | c.1177_1178delinsAT (p.Met393=) c.1408_1409delinsAT (p.Met470=) c.-212+2000_-212+2001delinsAT (n.-212+2000_-212+2001delinsAT) | |
12 | g.52306211del | CA947686104 | KRT81,KRT86 | c.1178del (p.Met393ArgfsTer?) c.1409del (p.Met470ArgfsTer?) c.-212+2000del (n.-212+2000del) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306211T>A | CA6577096 | KRT81,KRT86 | c.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 |
12 | g.52306211T>C | CA6577097 | KRT81,KRT86 | c.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 |
12 | g.52306211T>G | CA384919163 | KRT81,KRT86 | c.1178T>G (p.Met393Arg) c.1409T>G (p.Met470Arg) c.-212+2000A>C (n.-212+2000A>C) | |
12 | g.52306211T= | CA2036432498 | KRT81,KRT86 | c.1178T= (p.Met393=) c.1409T= (p.Met470=) c.-212+2000A= (n.-212+2000A=) | |
12 | g.52306212G>A | CA384919166 | KRT81,KRT86 | c.1179G>A (p.Met393Ile) c.1410G>A (p.Met470Ile) c.-212+1999C>T (n.-212+1999C>T) | COSMIC |
12 | g.52306212G>C | CA384919164 | KRT81,KRT86 | c.1179G>C (p.Met393Ile) c.1410G>C (p.Met470Ile) c.-212+1999C>G (n.-212+1999C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306212G= | CA2036432499 | KRT81,KRT86 | c.1179G= (p.Met393=) c.1410G= (p.Met470=) c.-212+1999C= (n.-212+1999C=) | |
12 | g.52306212G>T | CA384919165 | KRT81,KRT86 | c.1179G>T (p.Met393Ile) c.1410G>T (p.Met470Ile) c.-212+1999C>A (n.-212+1999C>A) | |
12 | g.52306213A>C | CA384919167 | KRT81,KRT86 | c.1180A>C (p.Asn394His) c.1411A>C (p.Asn471His) c.-212+1998T>G (n.-212+1998T>G) | |
12 | g.52306213A>G | CA384919168 | KRT81,KRT86 | c.1180A>G (p.Asn394Asp) c.1411A>G (p.Asn471Asp) c.-212+1998T>C (n.-212+1998T>C) | |
12 | g.52306213A>T | CA384919169 | KRT81,KRT86 | c.1180A>T (p.Asn394Tyr) c.1411A>T (p.Asn471Tyr) c.-212+1998T>A (n.-212+1998T>A) | |
12 | g.52306214A>C | CA384919170 | KRT81,KRT86 | c.1181A>C (p.Asn394Thr) c.1412A>C (p.Asn471Thr) c.-212+1997T>G (n.-212+1997T>G) | |
12 | g.52306214A>G | CA384919171 | KRT81,KRT86 | c.1181A>G (p.Asn394Ser) c.1412A>G (p.Asn471Ser) c.-212+1997T>C (n.-212+1997T>C) | |
12 | g.52306214A>T | CA384919172 | KRT81,KRT86 | c.1181A>T (p.Asn394Ile) c.1412A>T (p.Asn471Ile) c.-212+1997T>A (n.-212+1997T>A) | |
12 | g.52306215C>A | CA384919173 | KRT81,KRT86 | c.1182C>A (p.Asn394Lys) c.1413C>A (p.Asn471Lys) c.-212+1996G>T (n.-212+1996G>T) | |
12 | g.52306215C= | CA2036432500 | KRT81,KRT86 | c.1182C= (p.Asn394=) c.1413C= (p.Asn471=) c.-212+1996G= (n.-212+1996G=) | |
12 | g.52306215C>G | CA384919174 | KRT81,KRT86 | c.1182C>G (p.Asn394Lys) c.1413C>G (p.Asn471Lys) c.-212+1996G>C (n.-212+1996G>C) | |
12 | g.52306215C>T | CA6577098 | KRT81,KRT86 | c.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 |
12 | g.52306216T>A | CA384919175 | KRT81,KRT86 | c.1183T>A (p.Ser395Thr) c.1414T>A (p.Ser472Thr) c.-212+1995A>T (n.-212+1995A>T) | |
12 | g.52306216T>C | CA384919176 | KRT81,KRT86 | c.1183T>C (p.Ser395Pro) c.1414T>C (p.Ser472Pro) c.-212+1995A>G (n.-212+1995A>G) | dbSNP gnomAD v4 |
12 | g.52306216T>G | CA384919177 | KRT81,KRT86 | c.1183T>G (p.Ser395Ala) c.1414T>G (p.Ser472Ala) c.-212+1995A>C (n.-212+1995A>C) | |
12 | g.52306217C>A | CA384919179 | KRT81,KRT86 | c.1184C>A (p.Ser395Tyr) c.1415C>A (p.Ser472Tyr) c.-212+1994G>T (n.-212+1994G>T) | |
12 | g.52306217C= | CA2036432501 | KRT81,KRT86 | c.1184C= (p.Ser395=) c.1415C= (p.Ser472=) c.-212+1994G= (n.-212+1994G=) | |
12 | g.52306217C>G | CA384919180 | KRT81,KRT86 | c.1184C>G (p.Ser395Cys) c.1415C>G (p.Ser472Cys) c.-212+1994G>C (n.-212+1994G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306217C>T | CA384919178 | KRT81,KRT86 | c.1184C>T (p.Ser395Phe) c.1415C>T (p.Ser472Phe) c.-212+1994G>A (n.-212+1994G>A) | |
12 | g.52306218C>A | CA479841525 | KRT81,KRT86 | c.1185C>A (p.Ser395=) c.1416C>A (p.Ser472=) c.-212+1993G>T (n.-212+1993G>T) | |
12 | g.52306218C= | CA2036432502 | KRT81,KRT86 | c.1185C= (p.Ser395=) c.1416C= (p.Ser472=) c.-212+1993G= (n.-212+1993G=) | |
12 | g.52306218C>G | CA479841527 | KRT81,KRT86 | c.1185C>G (p.Ser395=) c.1416C>G (p.Ser472=) c.-212+1993G>C (n.-212+1993G>C) | COSMIC |
12 | g.52306218C>T | CA479841528 | KRT81,KRT86 | c.1185C>T (p.Ser395=) c.1416C>T (p.Ser472=) c.-212+1993G>A (n.-212+1993G>A) | dbSNP |
12 | g.52306219A>C | CA384919181 | KRT81,KRT86 | c.1186A>C (p.Lys396Gln) c.1417A>C (p.Lys473Gln) c.-212+1992T>G (n.-212+1992T>G) | |
12 | g.52306219A>G | CA384919183 | KRT81,KRT86 | c.1186A>G (p.Lys396Glu) c.1417A>G (p.Lys473Glu) c.-212+1992T>C (n.-212+1992T>C) | gnomAD v4 |
12 | g.52306219A>T | CA384919182 | KRT81,KRT86 | c.1186A>T (p.Lys396Ter) c.1417A>T (p.Lys473Ter) c.-212+1992T>A (n.-212+1992T>A) | |
12 | g.52306220A= | CA2036432503 | KRT81,KRT86 | c.1187A= (p.Lys396=) c.1418A= (p.Lys473=) c.-212+1991T= (n.-212+1991T=) | |
12 | g.52306220A>C | CA384919184 | KRT81,KRT86 | c.1187A>C (p.Lys396Thr) c.1418A>C (p.Lys473Thr) c.-212+1991T>G (n.-212+1991T>G) | gnomAD v4 |
12 | g.52306220A>G | CA6577099 | KRT81,KRT86 | c.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 |
12 | g.52306220A>T | CA384919185 | KRT81,KRT86 | c.1187A>T (p.Lys396Met) c.1418A>T (p.Lys473Met) c.-212+1991T>A (n.-212+1991T>A) | |
12 | g.52306221G>A | CA479841541 | KRT81,KRT86 | c.1188G>A (p.Lys396=) c.1419G>A (p.Lys473=) c.-212+1990C>T (n.-212+1990C>T) | gnomAD v4 |
12 | g.52306221G>C | CA384919186 | KRT81,KRT86 | c.1188G>C (p.Lys396Asn) c.1419G>C (p.Lys473Asn) c.-212+1990C>G (n.-212+1990C>G) | |
12 | g.52306221G>T | CA384919187 | KRT81,KRT86 | c.1188G>T (p.Lys396Asn) c.1419G>T (p.Lys473Asn) c.-212+1990C>A (n.-212+1990C>A) | |
12 | g.52306222C>A | CA384919188 | KRT81,KRT86 | c.1189C>A (p.Leu397Met) c.1420C>A (p.Leu474Met) c.-212+1989G>T (n.-212+1989G>T) | dbSNP gnomAD v4 |
12 | g.52306222C= | CA2036432504 | KRT81,KRT86 | c.1189C= (p.Leu397=) c.1420C= (p.Leu474=) c.-212+1989G= (n.-212+1989G=) | |
12 | g.52306222C>G | CA384919189 | KRT81,KRT86 | c.1189C>G (p.Leu397Val) c.1420C>G (p.Leu474Val) c.-212+1989G>C (n.-212+1989G>C) | |
12 | g.52306222C>T | CA479841548 | KRT81,KRT86 | c.1189C>T (p.Leu397=) c.1420C>T (p.Leu474=) c.-212+1989G>A (n.-212+1989G>A) | gnomAD v4 |
12 | g.52306223T>A | CA384919190 | KRT81,KRT86 | c.1190T>A (p.Leu397Gln) c.1421T>A (p.Leu474Gln) c.-212+1988A>T (n.-212+1988A>T) | |
12 | g.52306223T>C | CA384919191 | KRT81,KRT86 | c.1190T>C (p.Leu397Pro) c.1421T>C (p.Leu474Pro) c.-212+1988A>G (n.-212+1988A>G) | gnomAD v4 |
12 | g.52306223T>G | CA384919192 | KRT81,KRT86 | c.1190T>G (p.Leu397Arg) c.1421T>G (p.Leu474Arg) c.-212+1988A>C (n.-212+1988A>C) | gnomAD v4 |
12 | g.52306224G>A | CA479841557 | KRT81,KRT86 | c.1191G>A (p.Leu397=) c.1422G>A (p.Leu474=) c.-212+1987C>T (n.-212+1987C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306224G>C | CA479841560 | KRT81,KRT86 | c.1191G>C (p.Leu397=) c.1422G>C (p.Leu474=) c.-212+1987C>G (n.-212+1987C>G) | |
12 | g.52306224G= | CA2036432505 | KRT81,KRT86 | c.1191G= (p.Leu397=) c.1422G= (p.Leu474=) c.-212+1987C= (n.-212+1987C=) | |
12 | g.52306224G>T | CA479841554 | KRT81,KRT86 | c.1191G>T (p.Leu397=) c.1422G>T (p.Leu474=) c.-212+1987C>A (n.-212+1987C>A) | |
12 | g.52306226del | CA2618906177 | KRT81,KRT86 | c.1193del (p.Gly398AlafsTer27) c.1424del (p.Gly475AlafsTer27) c.-212+1987del (n.-212+1987del) | gnomAD v4 |
12 | g.52306225G>A | CA384919195 | KRT81,KRT86 | c.1192G>A (p.Gly398Ser) c.1423G>A (p.Gly475Ser) c.-212+1986C>T (n.-212+1986C>T) | |
12 | g.52306225G>C | CA384919194 | KRT81,KRT86 | c.1192G>C (p.Gly398Arg) c.1423G>C (p.Gly475Arg) c.-212+1986C>G (n.-212+1986C>G) | |
12 | g.52306225G>T | CA384919193 | KRT81,KRT86 | c.1192G>T (p.Gly398Cys) c.1423G>T (p.Gly475Cys) c.-212+1986C>A (n.-212+1986C>A) | |
12 | g.52306226G>A | CA384919196 | KRT81,KRT86 | c.1193G>A (p.Gly398Asp) c.1424G>A (p.Gly475Asp) c.-212+1985C>T (n.-212+1985C>T) | |
12 | g.52306226G>C | CA384919197 | KRT81,KRT86 | c.1193G>C (p.Gly398Ala) c.1424G>C (p.Gly475Ala) c.-212+1985C>G (n.-212+1985C>G) | |
12 | g.52306226G>T | CA384919198 | KRT81,KRT86 | c.1193G>T (p.Gly398Val) c.1424G>T (p.Gly475Val) c.-212+1985C>A (n.-212+1985C>A) | |
12 | g.52306227C>A | CA479841576 | KRT81,KRT86 | c.1194C>A (p.Gly398=) c.1425C>A (p.Gly475=) c.-212+1984G>T (n.-212+1984G>T) | |
12 | g.52306227C>G | CA479841572 | KRT81,KRT86 | c.1194C>G (p.Gly398=) c.1425C>G (p.Gly475=) c.-212+1984G>C (n.-212+1984G>C) | |
12 | g.52306227C>T | CA479841574 | KRT81,KRT86 | c.1194C>T (p.Gly398=) c.1425C>T (p.Gly475=) c.-212+1984G>A (n.-212+1984G>A) | |
12 | g.52306228C>A | CA384919199 | KRT81,KRT86 | c.1195C>A (p.Leu399Met) c.1426C>A (p.Leu476Met) c.-212+1983G>T (n.-212+1983G>T) | |
12 | g.52306228C>G | CA384919200 | KRT81,KRT86 | c.1195C>G (p.Leu399Val) c.1426C>G (p.Leu476Val) c.-212+1983G>C (n.-212+1983G>C) | |
12 | g.52306228C>T | CA479841581 | KRT81,KRT86 | c.1195C>T (p.Leu399=) c.1426C>T (p.Leu476=) c.-212+1983G>A (n.-212+1983G>A) | |
12 | g.52306229T>A | CA384919201 | KRT81,KRT86 | c.1196T>A (p.Leu399Gln) c.1427T>A (p.Leu476Gln) c.-212+1982A>T (n.-212+1982A>T) | |
12 | g.52306229T>C | CA6577100 | KRT81,KRT86 | c.1196T>C (p.Leu399Pro) c.1427T>C (p.Leu476Pro) c.-212+1982A>G (n.-212+1982A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306229T>G | CA384919202 | KRT81,KRT86 | c.1196T>G (p.Leu399Arg) c.1427T>G (p.Leu476Arg) c.-212+1982A>C (n.-212+1982A>C) | gnomAD v4 |
12 | g.52306229T= | CA2036432506 | KRT81,KRT86 | c.1196T= (p.Leu399=) c.1427T= (p.Leu476=) c.-212+1982A= (n.-212+1982A=) | |
12 | g.52306230G>A | CA479841589 | KRT81,KRT86 | c.1197G>A (p.Leu399=) c.1428G>A (p.Leu476=) c.-212+1981C>T (n.-212+1981C>T) | |
12 | g.52306230G>C | CA479841593 | KRT81,KRT86 | c.1197G>C (p.Leu399=) c.1428G>C (p.Leu476=) c.-212+1981C>G (n.-212+1981C>G) | gnomAD v4 |
12 | g.52306230G= | CA2036432507 | KRT81,KRT86 | c.1197G= (p.Leu399=) c.1428G= (p.Leu476=) c.-212+1981C= (n.-212+1981C=) | |
12 | g.52306230G>T | CA479841591 | KRT81,KRT86 | c.1197G>T (p.Leu399=) c.1428G>T (p.Leu476=) c.-212+1981C>A (n.-212+1981C>A) | dbSNP |
12 | g.52306231G>A | CA384919203 | KRT81,KRT86 | c.1198G>A (p.Asp400Asn) c.1429G>A (p.Asp477Asn) c.-212+1980C>T (n.-212+1980C>T) | |
12 | g.52306231G>C | CA384919204 | KRT81,KRT86 | c.1198G>C (p.Asp400His) c.1429G>C (p.Asp477His) c.-212+1980C>G (n.-212+1980C>G) | |
12 | g.52306231G>T | CA384919205 | KRT81,KRT86 | c.1198G>T (p.Asp400Tyr) c.1429G>T (p.Asp477Tyr) c.-212+1980C>A (n.-212+1980C>A) | |
12 | g.52306232A>C | CA384919207 | KRT81,KRT86 | c.1199A>C (p.Asp400Ala) c.1430A>C (p.Asp477Ala) c.-212+1979T>G (n.-212+1979T>G) | |
12 | g.52306232A>G | CA384919208 | KRT81,KRT86 | c.1199A>G (p.Asp400Gly) c.1430A>G (p.Asp477Gly) c.-212+1979T>C (n.-212+1979T>C) | |
12 | g.52306232A>T | CA384919206 | KRT81,KRT86 | c.1199A>T (p.Asp400Val) c.1430A>T (p.Asp477Val) c.-212+1979T>A (n.-212+1979T>A) | |
12 | g.52306233C>A | CA384919209 | KRT81,KRT86 | c.1200C>A (p.Asp400Glu) c.1431C>A (p.Asp477Glu) c.-212+1978G>T (n.-212+1978G>T) | |
12 | g.52306233C= | CA2036432508 | KRT81,KRT86 | c.1200C= (p.Asp400=) c.1431C= (p.Asp477=) c.-212+1978G= (n.-212+1978G=) | |
12 | g.52306233C>G | CA384919210 | KRT81,KRT86 | c.1200C>G (p.Asp400Glu) c.1431C>G (p.Asp477Glu) c.-212+1978G>C (n.-212+1978G>C) | |
12 | g.52306233C>T | CA479841603 | KRT81,KRT86 | c.1200C>T (p.Asp400=) c.1431C>T (p.Asp477=) c.-212+1978G>A (n.-212+1978G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.52306234A= | CA2036432509 | KRT81,KRT86 | c.1201A= (p.Ile401=) c.1432A= (p.Ile478=) c.-212+1977T= (n.-212+1977T=) | |
12 | g.52306234A>C | CA384919211 | KRT81,KRT86 | c.1201A>C (p.Ile401Leu) c.1432A>C (p.Ile478Leu) c.-212+1977T>G (n.-212+1977T>G) | |
12 | g.52306234A>G | CA384919212 | KRT81,KRT86 | c.1201A>G (p.Ile401Val) c.1432A>G (p.Ile478Val) c.-212+1977T>C (n.-212+1977T>C) | dbSNP gnomAD v4 |
12 | g.52306234A>T | CA384919213 | KRT81,KRT86 | c.1201A>T (p.Ile401Phe) c.1432A>T (p.Ile478Phe) c.-212+1977T>A (n.-212+1977T>A) | gnomAD v4 |
12 | g.52306235T>A | CA384919214 | KRT81,KRT86 | c.1202T>A (p.Ile401Asn) c.1433T>A (p.Ile478Asn) c.-212+1976A>T (n.-212+1976A>T) | |
12 | g.52306235T>C | CA384919215 | KRT81,KRT86 | c.1202T>C (p.Ile401Thr) c.1433T>C (p.Ile478Thr) c.-212+1976A>G (n.-212+1976A>G) | |
12 | g.52306235T>G | CA384919216 | KRT81,KRT86 | c.1202T>G (p.Ile401Ser) c.1433T>G (p.Ile478Ser) c.-212+1976A>C (n.-212+1976A>C) | |
12 | g.52306236C>A | CA479841613 | KRT81,KRT86 | c.1203C>A (p.Ile401=) c.1434C>A (p.Ile478=) c.-212+1975G>T (n.-212+1975G>T) | dbSNP |
12 | g.52306236C= | CA2036432510 | KRT81,KRT86 | c.1203C= (p.Ile401=) c.1434C= (p.Ile478=) c.-212+1975G= (n.-212+1975G=) | |
12 | g.52306236C>G | CA384919217 | KRT81,KRT86 | c.1203C>G (p.Ile401Met) c.1434C>G (p.Ile478Met) c.-212+1975G>C (n.-212+1975G>C) | gnomAD v4 |
12 | g.52306236C>T | CA6577101 | KRT81,KRT86 | c.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 |
12 | g.52306237G>A | CA118926 | KRT81,KRT86 | c.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 |
12 | g.52306237G>C | CA118928 | KRT81,KRT86 | c.1204G>C (p.Glu402Gln) c.1435G>C (p.Glu479Gln) c.-212+1974C>G (n.-212+1974C>G) | ClinVar dbSNP gnomAD v4 |
12 | g.52306237G= | CA2036432511 | KRT81,KRT86 | c.1204G= (p.Glu402=) c.1435G= (p.Glu479=) c.-212+1974C= (n.-212+1974C=) | |
12 | g.52306237G>T | CA384919218 | KRT81,KRT86 | c.1204G>T (p.Glu402Ter) c.1435G>T (p.Glu479Ter) c.-212+1974C>A (n.-212+1974C>A) | |
12 | g.52306238A>C | CA384919221 | KRT81,KRT86 | c.1205A>C (p.Glu402Ala) c.1436A>C (p.Glu479Ala) c.-212+1973T>G (n.-212+1973T>G) | |
12 | g.52306238A>G | CA384919220 | KRT81,KRT86 | c.1205A>G (p.Glu402Gly) c.1436A>G (p.Glu479Gly) c.-212+1973T>C (n.-212+1973T>C) | |
12 | g.52306238A>T | CA384919219 | KRT81,KRT86 | c.1205A>T (p.Glu402Val) c.1436A>T (p.Glu479Val) c.-212+1973T>A (n.-212+1973T>A) | |
12 | g.52306239G>A | CA479841624 | KRT81,KRT86 | c.1206G>A (p.Glu402=) c.1437G>A (p.Glu479=) c.-212+1972C>T (n.-212+1972C>T) | |
12 | g.52306239G>C | CA384919222 | KRT81,KRT86 | c.1206G>C (p.Glu402Asp) c.1437G>C (p.Glu479Asp) c.-212+1972C>G (n.-212+1972C>G) | |
12 | g.52306239G>T | CA384919223 | KRT81,KRT86 | c.1206G>T (p.Glu402Asp) c.1437G>T (p.Glu479Asp) c.-212+1972C>A (n.-212+1972C>A) | |
12 | g.52306240A>C | CA384919224 | KRT81,KRT86 | c.1207A>C (p.Ile403Leu) c.1438A>C (p.Ile480Leu) c.-212+1971T>G (n.-212+1971T>G) | |
12 | g.52306240A>G | CA384919225 | KRT81,KRT86 | c.1207A>G (p.Ile403Val) c.1438A>G (p.Ile480Val) c.-212+1971T>C (n.-212+1971T>C) | |
12 | g.52306240A>T | CA384919226 | KRT81,KRT86 | c.1207A>T (p.Ile403Phe) c.1438A>T (p.Ile480Phe) c.-212+1971T>A (n.-212+1971T>A) | |
12 | g.52306241T>A | CA384919227 | KRT81,KRT86 | c.1208T>A (p.Ile403Asn) c.1439T>A (p.Ile480Asn) c.-212+1970A>T (n.-212+1970A>T) | |
12 | g.52306241T>C | CA384919228 | KRT81,KRT86 | c.1208T>C (p.Ile403Thr) c.1439T>C (p.Ile480Thr) c.-212+1970A>G (n.-212+1970A>G) | |
12 | g.52306241T>G | CA384919229 | KRT81,KRT86 | c.1208T>G (p.Ile403Ser) c.1439T>G (p.Ile480Ser) c.-212+1970A>C (n.-212+1970A>C) | |
12 | g.52306242C>A | CA479841634 | KRT81,KRT86 | c.1209C>A (p.Ile403=) c.1440C>A (p.Ile480=) c.-212+1969G>T (n.-212+1969G>T) | gnomAD v4 |
12 | g.52306242C= | CA2036432512 | KRT81,KRT86 | c.1209C= (p.Ile403=) c.1440C= (p.Ile480=) c.-212+1969G= (n.-212+1969G=) | |
12 | g.52306242C>G | CA384919230 | KRT81,KRT86 | c.1209C>G (p.Ile403Met) c.1440C>G (p.Ile480Met) c.-212+1969G>C (n.-212+1969G>C) | gnomAD v4 |
12 | g.52306242C>T | CA6577102 | KRT81,KRT86 | c.1209C>T (p.Ile403=) c.1440C>T (p.Ile480=) c.-212+1969G>A (n.-212+1969G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306243G>A | CA6577103 | KRT81,KRT86 | c.1210G>A (p.Ala404Thr) c.1441G>A (p.Ala481Thr) c.-212+1968C>T (n.-212+1968C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.52306243G>C | CA384919231 | KRT81,KRT86 | c.1210G>C (p.Ala404Pro) c.1441G>C (p.Ala481Pro) c.-212+1968C>G (n.-212+1968C>G) | |
12 | g.52306243G= | CA2036432513 | KRT81,KRT86 | c.1210G= (p.Ala404=) c.1441G= (p.Ala481=) c.-212+1968C= (n.-212+1968C=) | |
12 | g.52306243G>T | CA384919232 | KRT81,KRT86 | c.1210G>T (p.Ala404Ser) c.1441G>T (p.Ala481Ser) c.-212+1968C>A (n.-212+1968C>A) | |
12 | g.52306244C>A | CA384919234 | KRT81,KRT86 | c.1211C>A (p.Ala404Asp) c.1442C>A (p.Ala481Asp) c.-212+1967G>T (n.-212+1967G>T) | |
12 | g.52306244C= | CA2036432514 | KRT81,KRT86 | c.1211C= (p.Ala404=) c.1442C= (p.Ala481=) c.-212+1967G= (n.-212+1967G=) | |
12 | g.52306244C>G | CA384919235 | KRT81,KRT86 | c.1211C>G (p.Ala404Gly) c.1442C>G (p.Ala481Gly) c.-212+1967G>C (n.-212+1967G>C) | |
12 | g.52306244C>T | CA384919233 | KRT81,KRT86 | c.1211C>T (p.Ala404Val) c.1442C>T (p.Ala481Val) c.-212+1967G>A (n.-212+1967G>A) | dbSNP |
12 | g.52306245C>A | CA479841649 | KRT81,KRT86 | c.1212C>A (p.Ala404=) c.1443C>A (p.Ala481=) c.-212+1966G>T (n.-212+1966G>T) | |
12 | g.52306245C= | CA2036432515 | KRT81,KRT86 | c.1212C= (p.Ala404=) c.1443C= (p.Ala481=) c.-212+1966G= (n.-212+1966G=) | |
12 | g.52306245C>G | CA479841647 | KRT81,KRT86 | c.1212C>G (p.Ala404=) c.1443C>G (p.Ala481=) c.-212+1966G>C (n.-212+1966G>C) | COSMIC |
12 | g.52306245C>T | CA6577104 | KRT81,KRT86 | c.1212C>T (p.Ala404=) c.1443C>T (p.Ala481=) c.-212+1966G>A (n.-212+1966G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306246A>C | CA384919236 | KRT81,KRT86 | c.1213A>C (p.Thr405Pro) c.1444A>C (p.Thr482Pro) c.-212+1965T>G (n.-212+1965T>G) | |
12 | g.52306246A>G | CA384919238 | KRT81,KRT86 | c.1213A>G (p.Thr405Ala) c.1444A>G (p.Thr482Ala) c.-212+1965T>C (n.-212+1965T>C) | |
12 | g.52306246A>T | CA384919237 | KRT81,KRT86 | c.1213A>T (p.Thr405Ser) c.1444A>T (p.Thr482Ser) c.-212+1965T>A (n.-212+1965T>A) | |
12 | g.52306247C>A | CA384919239 | KRT81,KRT86 | c.1214C>A (p.Thr405Asn) c.1445C>A (p.Thr482Asn) c.-212+1964G>T (n.-212+1964G>T) | |
12 | g.52306247C>G | CA384919240 | KRT81,KRT86 | c.1214C>G (p.Thr405Ser) c.1445C>G (p.Thr482Ser) c.-212+1964G>C (n.-212+1964G>C) | |
12 | g.52306247C>T | CA384919241 | KRT81,KRT86 | c.1214C>T (p.Thr405Ile) c.1445C>T (p.Thr482Ile) c.-212+1964G>A (n.-212+1964G>A) | |
12 | g.52306248C>A | CA479841655 | KRT81,KRT86 | c.1215C>A (p.Thr405=) c.1446C>A (p.Thr482=) c.-212+1963G>T (n.-212+1963G>T) | |
12 | g.52306248C>G | CA479841658 | KRT81,KRT86 | c.1215C>G (p.Thr405=) c.1446C>G (p.Thr482=) c.-212+1963G>C (n.-212+1963G>C) | |
12 | g.52306248C>T | CA479841656 | KRT81,KRT86 | c.1215C>T (p.Thr405=) c.1446C>T (p.Thr482=) c.-212+1963G>A (n.-212+1963G>A) | |
12 | g.52306249T>A | CA384919242 | KRT81,KRT86 | c.1216T>A (p.Tyr406Asn) c.1447T>A (p.Tyr483Asn) c.-212+1962A>T (n.-212+1962A>T) | |
12 | g.52306249T>C | CA384919243 | KRT81,KRT86 | c.1216T>C (p.Tyr406His) c.1447T>C (p.Tyr483His) c.-212+1962A>G (n.-212+1962A>G) | |
12 | g.52306249T>G | CA384919244 | KRT81,KRT86 | c.1216T>G (p.Tyr406Asp) c.1447T>G (p.Tyr483Asp) c.-212+1962A>C (n.-212+1962A>C) | |
12 | g.52306250A>C | CA384919245 | KRT81,KRT86 | c.1217A>C (p.Tyr406Ser) c.1448A>C (p.Tyr483Ser) c.-212+1961T>G (n.-212+1961T>G) | |
12 | g.52306250A>G | CA384919246 | KRT81,KRT86 | c.1217A>G (p.Tyr406Cys) c.1448A>G (p.Tyr483Cys) c.-212+1961T>C (n.-212+1961T>C) | |
12 | g.52306250A>T | CA384919247 | KRT81,KRT86 | c.1217A>T (p.Tyr406Phe) c.1448A>T (p.Tyr483Phe) c.-212+1961T>A (n.-212+1961T>A) | |
12 | g.52306251C>A | CA384919248 | KRT81,KRT86 | c.1218C>A (p.Tyr406Ter) c.1449C>A (p.Tyr483Ter) c.-212+1960G>T (n.-212+1960G>T) | |
12 | g.52306251C= | CA2036432516 | KRT81,KRT86 | c.1218C= (p.Tyr406=) c.1449C= (p.Tyr483=) c.-212+1960G= (n.-212+1960G=) | |
12 | g.52306251C>G | CA384919249 | KRT81,KRT86 | c.1218C>G (p.Tyr406Ter) c.1449C>G (p.Tyr483Ter) c.-212+1960G>C (n.-212+1960G>C) | |
12 | g.52306251C>T | CA479841667 | KRT81,KRT86 | c.1218C>T (p.Tyr406=) c.1449C>T (p.Tyr483=) c.-212+1960G>A (n.-212+1960G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306252A= | CA2036432517 | KRT81,KRT86 | c.1219A= (p.Arg407=) c.1450A= (p.Arg484=) c.-212+1959T= (n.-212+1959T=) | |
12 | g.52306252A>C | CA479841669 | KRT81,KRT86 | c.1219A>C (p.Arg407=) c.1450A>C (p.Arg484=) c.-212+1959T>G (n.-212+1959T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306252A>G | CA384919251 | KRT81,KRT86 | c.1219A>G (p.Arg407Gly) c.1450A>G (p.Arg484Gly) c.-212+1959T>C (n.-212+1959T>C) | |
12 | g.52306252A>T | CA384919250 | KRT81,KRT86 | c.1219A>T (p.Arg407Trp) c.1450A>T (p.Arg484Trp) c.-212+1959T>A (n.-212+1959T>A) | |
12 | g.52306253G>A | CA384919252 | KRT81,KRT86 | c.1220G>A (p.Arg407Lys) c.1451G>A (p.Arg484Lys) c.-212+1958C>T (n.-212+1958C>T) | |
12 | g.52306253G>C | CA384919253 | KRT81,KRT86 | c.1220G>C (p.Arg407Thr) c.1451G>C (p.Arg484Thr) c.-212+1958C>G (n.-212+1958C>G) | |
12 | g.52306253G>T | CA384919254 | KRT81,KRT86 | c.1220G>T (p.Arg407Met) c.1451G>T (p.Arg484Met) c.-212+1958C>A (n.-212+1958C>A) | |
12 | g.52306254G>A | CA479841677 | KRT81,KRT86 | c.1221G>A (p.Arg407=) c.1452G>A (p.Arg484=) c.-212+1957C>T (n.-212+1957C>T) | gnomAD v4 |
12 | g.52306254G>C | CA384919255 | KRT81,KRT86 | c.1221G>C (p.Arg407Ser) c.1452G>C (p.Arg484Ser) c.-212+1957C>G (n.-212+1957C>G) | |
12 | g.52306254G>T | CA384919256 | KRT81,KRT86 | c.1221G>T (p.Arg407Ser) c.1452G>T (p.Arg484Ser) c.-212+1957C>A (n.-212+1957C>A) | |
12 | g.52306255C>A | CA384919257 | KRT81,KRT86 | c.1222C>A (p.Arg408Ser) c.1453C>A (p.Arg485Ser) c.-212+1956G>T (n.-212+1956G>T) | |
12 | g.52306255C= | CA2036432518 | KRT81,KRT86 | c.1222C= (p.Arg408=) c.1453C= (p.Arg485=) c.-212+1956G= (n.-212+1956G=) | |
12 | g.52306255C>G | CA384919258 | KRT81,KRT86 | c.1222C>G (p.Arg408Gly) c.1453C>G (p.Arg485Gly) c.-212+1956G>C (n.-212+1956G>C) | gnomAD v4 |
12 | g.52306255C>T | CA6577105 | KRT81,KRT86 | c.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 |
12 | g.52306256G>A | CA6577106 | KRT81,KRT86 | c.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 |
12 | g.52306256G>C | CA384919259 | KRT81,KRT86 | c.1223G>C (p.Arg408Pro) c.1454G>C (p.Arg485Pro) c.-212+1955C>G (n.-212+1955C>G) | |
12 | g.52306256G= | CA2036432519 | KRT81,KRT86 | c.1223G= (p.Arg408=) c.1454G= (p.Arg485=) c.-212+1955C= (n.-212+1955C=) | |
12 | g.52306256G>T | CA384919260 | KRT81,KRT86 | c.1223G>T (p.Arg408Leu) c.1454G>T (p.Arg485Leu) c.-212+1955C>A (n.-212+1955C>A) | gnomAD v4 |
12 | g.52306257C>A | CA479841689 | KRT81,KRT86 | c.1224C>A (p.Arg408=) c.1455C>A (p.Arg485=) c.-212+1954G>T (n.-212+1954G>T) | |
12 | g.52306257C= | CA2036432520 | KRT81,KRT86 | c.1224C= (p.Arg408=) c.1455C= (p.Arg485=) c.-212+1954G= (n.-212+1954G=) | |
12 | g.52306257C>G | CA479841687 | KRT81,KRT86 | c.1224C>G (p.Arg408=) c.1455C>G (p.Arg485=) c.-212+1954G>C (n.-212+1954G>C) | |
12 | g.52306257C>T | CA6577107 | KRT81,KRT86 | c.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 |
12 | g.52306258C>A | CA384919262 | KRT81,KRT86 | c.1225C>A (p.Leu409Met) c.1456C>A (p.Leu486Met) c.-212+1953G>T (n.-212+1953G>T) | |
12 | g.52306258C>G | CA384919261 | KRT81,KRT86 | c.1225C>G (p.Leu409Val) c.1456C>G (p.Leu486Val) c.-212+1953G>C (n.-212+1953G>C) | |
12 | g.52306258C>T | CA479841694 | KRT81,KRT86 | c.1225C>T (p.Leu409=) c.1456C>T (p.Leu486=) c.-212+1953G>A (n.-212+1953G>A) | gnomAD v4 |
12 | g.52306259T>A | CA384919263 | KRT81,KRT86 | c.1226T>A (p.Leu409Gln) c.1457T>A (p.Leu486Gln) c.-212+1952A>T (n.-212+1952A>T) | |
12 | g.52306259T>C | CA384919264 | KRT81,KRT86 | c.1226T>C (p.Leu409Pro) c.1457T>C (p.Leu486Pro) c.-212+1952A>G (n.-212+1952A>G) | |
12 | g.52306259T>G | CA384919265 | KRT81,KRT86 | c.1226T>G (p.Leu409Arg) c.1457T>G (p.Leu486Arg) c.-212+1952A>C (n.-212+1952A>C) | |
12 | g.52306260G>A | CA479841701 | KRT81,KRT86 | c.1227G>A (p.Leu409=) c.1458G>A (p.Leu486=) c.-212+1951C>T (n.-212+1951C>T) | |
12 | g.52306260G>C | CA479841702 | KRT81,KRT86 | c.1227G>C (p.Leu409=) c.1458G>C (p.Leu486=) c.-212+1951C>G (n.-212+1951C>G) | |
12 | g.52306260G>T | CA479841704 | KRT81,KRT86 | c.1227G>T (p.Leu409=) c.1458G>T (p.Leu486=) c.-212+1951C>A (n.-212+1951C>A) | gnomAD v4 |
12 | g.52306261C>A | CA384919266 | KRT81,KRT86 | c.1228C>A (p.Leu410Met) c.1459C>A (p.Leu487Met) c.-212+1950G>T (n.-212+1950G>T) | |
12 | g.52306261C= | CA2036432521 | KRT81,KRT86 | c.1228C= (p.Leu410=) c.1459C= (p.Leu487=) c.-212+1950G= (n.-212+1950G=) | |
12 | g.52306261C>G | CA384919267 | KRT81,KRT86 | c.1228C>G (p.Leu410Val) c.1459C>G (p.Leu487Val) c.-212+1950G>C (n.-212+1950G>C) | |
12 | g.52306261C>T | CA6577108 | KRT81,KRT86 | c.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 |
12 | g.52306262T>A | CA384919268 | KRT81,KRT86 | c.1229T>A (p.Leu410Gln) c.1460T>A (p.Leu487Gln) c.-212+1949A>T (n.-212+1949A>T) | |
12 | g.52306262T>C | CA384919269 | KRT81,KRT86 | c.1229T>C (p.Leu410Pro) c.1460T>C (p.Leu487Pro) c.-212+1949A>G (n.-212+1949A>G) | |
12 | g.52306262T>G | CA384919270 | KRT81,KRT86 | c.1229T>G (p.Leu410Arg) c.1460T>G (p.Leu487Arg) c.-212+1949A>C (n.-212+1949A>C) | |
12 | g.52306263G>A | CA479841714 | KRT81,KRT86 | c.1230G>A (p.Leu410=) c.1461G>A (p.Leu487=) c.-212+1948C>T (n.-212+1948C>T) | |
12 | g.52306263G>C | CA479841716 | KRT81,KRT86 | c.1230G>C (p.Leu410=) c.1461G>C (p.Leu487=) c.-212+1948C>G (n.-212+1948C>G) | |
12 | g.52306263G= | CA2036432522 | KRT81,KRT86 | c.1230G= (p.Leu410=) c.1461G= (p.Leu487=) c.-212+1948C= (n.-212+1948C=) | |
12 | g.52306263G>T | CA479841718 | KRT81,KRT86 | c.1230G>T (p.Leu410=) c.1461G>T (p.Leu487=) c.-212+1948C>A (n.-212+1948C>A) | dbSNP gnomAD v4 |
12 | g.52306264G>A | CA384919271 | KRT81,KRT86 | c.1231G>A (p.Glu411Lys) c.1462G>A (p.Glu488Lys) c.-212+1947C>T (n.-212+1947C>T) | |
12 | g.52306264G>C | CA384919272 | KRT81,KRT86 | c.1231G>C (p.Glu411Gln) c.1462G>C (p.Glu488Gln) c.-212+1947C>G (n.-212+1947C>G) | |
12 | g.52306264G>T | CA384919273 | KRT81,KRT86 | c.1231G>T (p.Glu411Ter) c.1462G>T (p.Glu488Ter) c.-212+1947C>A (n.-212+1947C>A) | |
12 | g.52306265A>C | CA384919275 | KRT81,KRT86 | c.1232A>C (p.Glu411Ala) c.1463A>C (p.Glu488Ala) c.-212+1946T>G (n.-212+1946T>G) | |
12 | g.52306265A>G | CA384919276 | KRT81,KRT86 | c.1232A>G (p.Glu411Gly) c.1463A>G (p.Glu488Gly) c.-212+1946T>C (n.-212+1946T>C) | |
12 | g.52306265A>T | CA384919274 | KRT81,KRT86 | c.1232A>T (p.Glu411Val) c.1463A>T (p.Glu488Val) c.-212+1946T>A (n.-212+1946T>A) | |
12 | g.52306266G>A | CA6577109 | KRT81,KRT86 | c.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 |
12 | g.52306266G>C | CA384919277 | KRT81,KRT86 | c.1233G>C (p.Glu411Asp) c.1464G>C (p.Glu488Asp) c.-212+1945C>G (n.-212+1945C>G) | |
12 | g.52306266G= | CA2036432523 | KRT81,KRT86 | c.1233G= (p.Glu411=) c.1464G= (p.Glu488=) c.-212+1945C= (n.-212+1945C=) | |
12 | g.52306266G>T | CA384919278 | KRT81,KRT86 | c.1233G>T (p.Glu411Asp) c.1464G>T (p.Glu488Asp) c.-212+1945C>A (n.-212+1945C>A) | |
12 | g.52306267G>A | CA384919279 | KRT81,KRT86 | c.1234G>A (p.Gly412Ser) c.1465G>A (p.Gly489Ser) c.-212+1944C>T (n.-212+1944C>T) | |
12 | g.52306267G>C | CA384919280 | KRT81,KRT86 | c.1234G>C (p.Gly412Arg) c.1465G>C (p.Gly489Arg) c.-212+1944C>G (n.-212+1944C>G) | |
12 | g.52306267G>T | CA384919281 | KRT81,KRT86 | c.1234G>T (p.Gly412Cys) c.1465G>T (p.Gly489Cys) c.-212+1944C>A (n.-212+1944C>A) | |
12 | g.52306268G>A | CA237206506 | KRT81,KRT86 | c.1235G>A (p.Gly412Asp) c.1466G>A (p.Gly489Asp) c.-212+1943C>T (n.-212+1943C>T) | dbSNP |
12 | g.52306268G>C | CA384919283 | KRT81,KRT86 | c.1235G>C (p.Gly412Ala) c.1466G>C (p.Gly489Ala) c.-212+1943C>G (n.-212+1943C>G) | |
12 | g.52306268G= | CA2036432524 | KRT81,KRT86 | c.1235G= (p.Gly412=) c.1466G= (p.Gly489=) c.-212+1943C= (n.-212+1943C=) | |
12 | g.52306268G>T | CA384919282 | KRT81,KRT86 | c.1235G>T (p.Gly412Val) c.1466G>T (p.Gly489Val) c.-212+1943C>A (n.-212+1943C>A) | dbSNP gnomAD v4 |
12 | g.52306269del | CA2618906245 | KRT81,KRT86 | c.1236del (p.Glu413ArgfsTer12) c.1467del (p.Glu490ArgfsTer12) c.-212+1942del (n.-212+1942del) | gnomAD v4 |
12 | g.52306269C>A | CA6577111 | KRT81,KRT86 | c.1236C>A (p.Gly412=) c.1467C>A (p.Gly489=) c.-212+1942G>T (n.-212+1942G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306269C= | CA2036432525 | KRT81,KRT86 | c.1236C= (p.Gly412=) c.1467C= (p.Gly489=) c.-212+1942G= (n.-212+1942G=) | |
12 | g.52306269C>G | CA479841740 | KRT81,KRT86 | c.1236C>G (p.Gly412=) c.1467C>G (p.Gly489=) c.-212+1942G>C (n.-212+1942G>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306269C>T | CA6577110 | KRT81,KRT86 | c.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 |
12 | g.52306270G>A | CA118924 | KRT81,KRT86 | c.1237G>A (p.Glu413Lys) c.1468G>A (p.Glu490Lys) c.-212+1941C>T (n.-212+1941C>T) | ClinVar dbSNP gnomAD v4 |
12 | g.52306270G>C | CA384919284 | KRT81,KRT86 | c.1237G>C (p.Glu413Gln) c.1468G>C (p.Glu490Gln) c.-212+1941C>G (n.-212+1941C>G) | |
12 | g.52306270G= | CA2036432526 | KRT81,KRT86 | c.1237G= (p.Glu413=) c.1468G= (p.Glu490=) c.-212+1941C= (n.-212+1941C=) | |
12 | g.52306270G>T | CA384919285 | KRT81,KRT86 | c.1237G>T (p.Glu413Ter) c.1468G>T (p.Glu490Ter) c.-212+1941C>A (n.-212+1941C>A) | |
12 | g.52306271A>C | CA384919287 | KRT81,KRT86 | c.1238A>C (p.Glu413Ala) c.1469A>C (p.Glu490Ala) c.-212+1940T>G (n.-212+1940T>G) | |
12 | g.52306271A>G | CA384919288 | KRT81,KRT86 | c.1238A>G (p.Glu413Gly) c.1469A>G (p.Glu490Gly) c.-212+1940T>C (n.-212+1940T>C) | |
12 | g.52306271A>T | CA384919286 | KRT81,KRT86 | c.1238A>T (p.Glu413Val) c.1469A>T (p.Glu490Val) c.-212+1940T>A (n.-212+1940T>A) | |
12 | g.52306272G>A | CA479841754 | KRT81,KRT86 | c.1239G>A (p.Glu413=) c.1470G>A (p.Glu490=) c.-212+1939C>T (n.-212+1939C>T) | |
12 | g.52306272G>C | CA384919289 | KRT81,KRT86 | c.1239G>C (p.Glu413Asp) c.1470G>C (p.Glu490Asp) c.-212+1939C>G (n.-212+1939C>G) | |
12 | g.52306272G= | CA2036432527 | KRT81,KRT86 | c.1239G= (p.Glu413=) c.1470G= (p.Glu490=) c.-212+1939C= (n.-212+1939C=) | |
12 | g.52306272G>T | CA118925 | KRT81,KRT86 | c.1239G>T (p.Glu413Asp) c.1470G>T (p.Glu490Asp) c.-212+1939C>A (n.-212+1939C>A) | ClinVar dbSNP |