| 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) |