Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.52306019C>A | CA605239648 | KRT81,KRT86 | c.1027-41C>A (n.1027-41C>A) c.1258-41C>A (n.1258-41C>A) c.-212+2192G>T (n.-212+2192G>T) | dbSNP gnomAD v2 |
12 | g.52306019C= | CA2036432393 | KRT81,KRT86 | c.1027-41C= (n.1027-41C=) c.1258-41C= (n.1258-41C=) c.-212+2192G= (n.-212+2192G=) | |
12 | g.52306019C>G | CA2036432394 | KRT81,KRT86 | c.1027-41C>G (n.1027-41C>G) c.1258-41C>G (n.1258-41C>G) c.-212+2192G>C (n.-212+2192G>C) | dbSNP gnomAD v4 |
12 | g.52306020C= | CA2036432395 | KRT81,KRT86 | c.1027-40C= (n.1027-40C=) c.1258-40C= (n.1258-40C=) c.-212+2191G= (n.-212+2191G=) | |
12 | g.52306020C>T | CA605239649 | KRT81,KRT86 | c.1027-40C>T (n.1027-40C>T) c.1258-40C>T (n.1258-40C>T) c.-212+2191G>A (n.-212+2191G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306021A= | CA2036432396 | KRT81,KRT86 | c.1027-39A= (n.1027-39A=) c.1258-39A= (n.1258-39A=) c.-212+2190T= (n.-212+2190T=) | |
12 | g.52306021A>G | CA6577040 | KRT81,KRT86 | c.1027-39A>G (n.1027-39A>G) c.1258-39A>G (n.1258-39A>G) c.-212+2190T>C (n.-212+2190T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306021A>T | CA2575163446 | KRT81,KRT86 | c.1027-39A>T (n.1027-39A>T) c.1258-39A>T (n.1258-39A>T) c.-212+2190T>A (n.-212+2190T>A) | |
12 | g.52306021_52306022delinsAG | CA2036432397 | KRT81,KRT86 | c.1027-39_1027-38delinsAG (n.1027-39_1027-38delinsAG) c.1258-39_1258-38delinsAG (n.1258-39_1258-38delinsAG) c.-212+2189_-212+2190delinsCT (n.-212+2189_-212+2190delinsCT) | |
12 | g.52306022G>T | CA2575163447 | KRT81,KRT86 | c.1027-38G>T (n.1027-38G>T) c.1258-38G>T (n.1258-38G>T) c.-212+2189C>A (n.-212+2189C>A) | |
12 | g.52306024del | CA2036432398 | KRT81,KRT86 | c.1027-36del (n.1027-36del) c.1258-36del (n.1258-36del) c.-212+2189del (n.-212+2189del) | dbSNP |
12 | g.52306023G>A | CA947686059 | KRT81,KRT86 | c.1027-37G>A (n.1027-37G>A) c.1258-37G>A (n.1258-37G>A) c.-212+2188C>T (n.-212+2188C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306023G= | CA2036432399 | KRT81,KRT86 | c.1027-37G= (n.1027-37G=) c.1258-37G= (n.1258-37G=) c.-212+2188C= (n.-212+2188C=) | |
12 | g.52306024G= | CA2036432400 | KRT81,KRT86 | c.1027-36G= (n.1027-36G=) c.1258-36G= (n.1258-36G=) c.-212+2187C= (n.-212+2187C=) | |
12 | g.52306024G>T | CA237206262 | KRT81,KRT86 | c.1027-36G>T (n.1027-36G>T) c.1258-36G>T (n.1258-36G>T) c.-212+2187C>A (n.-212+2187C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306025A>T | CA2575163448 | KRT81,KRT86 | c.1027-35A>T (n.1027-35A>T) c.1258-35A>T (n.1258-35A>T) c.-212+2186T>A (n.-212+2186T>A) | gnomAD v4 |
12 | g.52306026C= | CA2036432401 | KRT81,KRT86 | c.1027-34C= (n.1027-34C=) c.1258-34C= (n.1258-34C=) c.-212+2185G= (n.-212+2185G=) | |
12 | g.52306026C>T | CA6577041 | KRT81,KRT86 | c.1027-34C>T (n.1027-34C>T) c.1258-34C>T (n.1258-34C>T) c.-212+2185G>A (n.-212+2185G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306027T>C | CA2618905813 | KRT81,KRT86 | c.1027-33T>C (n.1027-33T>C) c.1258-33T>C (n.1258-33T>C) c.-212+2184A>G (n.-212+2184A>G) | gnomAD v4 |
12 | g.52306031A= | CA2036432402 | KRT81,KRT86 | c.1027-29A= (n.1027-29A=) c.1258-29A= (n.1258-29A=) c.-212+2180T= (n.-212+2180T=) | |
12 | g.52306031A>C | CA2618905816 | KRT81,KRT86 | c.1027-29A>C (n.1027-29A>C) c.1258-29A>C (n.1258-29A>C) c.-212+2180T>G (n.-212+2180T>G) | gnomAD v4 |
12 | g.52306031A>G | CA2036432403 | KRT81,KRT86 | c.1027-29A>G (n.1027-29A>G) c.1258-29A>G (n.1258-29A>G) c.-212+2180T>C (n.-212+2180T>C) | dbSNP gnomAD v4 |
12 | g.52306031A>T | CA605239650 | KRT81,KRT86 | c.1027-29A>T (n.1027-29A>T) c.1258-29A>T (n.1258-29A>T) c.-212+2180T>A (n.-212+2180T>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306032T>C | CA2036432405 | KRT81,KRT86 | c.1027-28T>C (n.1027-28T>C) c.1258-28T>C (n.1258-28T>C) c.-212+2179A>G (n.-212+2179A>G) | dbSNP |
12 | g.52306032T= | CA2036432404 | KRT81,KRT86 | c.1027-28T= (n.1027-28T=) c.1258-28T= (n.1258-28T=) c.-212+2179A= (n.-212+2179A=) | |
12 | g.52306033del | CA2618905820 | KRT81,KRT86 | c.1027-27del (n.1027-27del) c.1258-27del (n.1258-27del) c.-212+2178del (n.-212+2178del) | gnomAD v4 |
12 | g.52306033C>A | CA689835436 | KRT81,KRT86 | c.1027-27C>A (n.1027-27C>A) c.1258-27C>A (n.1258-27C>A) c.-212+2178G>T (n.-212+2178G>T) | dbSNP |
12 | g.52306033C= | CA2036432406 | KRT81,KRT86 | c.1027-27C= (n.1027-27C=) c.1258-27C= (n.1258-27C=) c.-212+2178G= (n.-212+2178G=) | |
12 | g.52306034T>A | CA2618905823 | KRT81,KRT86 | c.1027-26T>A (n.1027-26T>A) c.1258-26T>A (n.1258-26T>A) c.-212+2177A>T (n.-212+2177A>T) | gnomAD v4 |
12 | g.52306034T>C | CA6577043 | KRT81,KRT86 | c.1027-26T>C (n.1027-26T>C) c.1258-26T>C (n.1258-26T>C) c.-212+2177A>G (n.-212+2177A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306034T>G | CA6577042 | KRT81,KRT86 | c.1027-26T>G (n.1027-26T>G) c.1258-26T>G (n.1258-26T>G) c.-212+2177A>C (n.-212+2177A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306034T= | CA2036432407 | KRT81,KRT86 | c.1027-26T= (n.1027-26T=) c.1258-26T= (n.1258-26T=) c.-212+2177A= (n.-212+2177A=) | |
12 | g.52306035A>T | CA2618905825 | KRT81,KRT86 | c.1027-25A>T (n.1027-25A>T) c.1258-25A>T (n.1258-25A>T) c.-212+2176T>A (n.-212+2176T>A) | gnomAD v4 |
12 | g.52306036C>A | CA6577044 | KRT81,KRT86 | c.1027-24C>A (n.1027-24C>A) c.1258-24C>A (n.1258-24C>A) c.-212+2175G>T (n.-212+2175G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306036C= | CA2036432408 | KRT81,KRT86 | c.1027-24C= (n.1027-24C=) c.1258-24C= (n.1258-24C=) c.-212+2175G= (n.-212+2175G=) | |
12 | g.52306036C>T | CA2036432409 | KRT81,KRT86 | c.1027-24C>T (n.1027-24C>T) c.1258-24C>T (n.1258-24C>T) c.-212+2175G>A (n.-212+2175G>A) | dbSNP gnomAD v4 |
12 | g.52306037C>A | CA2036432411 | KRT81,KRT86 | c.1027-23C>A (n.1027-23C>A) c.1258-23C>A (n.1258-23C>A) c.-212+2174G>T (n.-212+2174G>T) | dbSNP |
12 | g.52306037C= | CA2036432410 | KRT81,KRT86 | c.1027-23C= (n.1027-23C=) c.1258-23C= (n.1258-23C=) c.-212+2174G= (n.-212+2174G=) | |
12 | g.52306037C>T | CA605239651 | KRT81,KRT86 | c.1027-23C>T (n.1027-23C>T) c.1258-23C>T (n.1258-23C>T) c.-212+2174G>A (n.-212+2174G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306038T>G | CA2575163449 | KRT81,KRT86 | c.1027-22T>G (n.1027-22T>G) c.1258-22T>G (n.1258-22T>G) c.-212+2173A>C (n.-212+2173A>C) | |
12 | g.52306038_52306047delinsTTGTTCTCTC | CA2036432412 | KRT81,KRT86 | c.1027-22_1027-13delinsTTGTTCTCTC (n.1027-22_1027-13delinsTTGTTCTCTC) c.1258-22_1258-13delinsTTGTTCTCTC (n.1258-22_1258-13delinsTTGTTCTCTC) c.-212+2164_-212+2173delinsGAGAGAACAA (n.-212+2164_-212+2173delinsGAGAGAACAA) | |
12 | g.52306047_52306055del | CA6577045 | KRT81,KRT86 | c.1027-13_1027-5del (n.1027-13_1027-5del) c.1258-13_1258-5del (n.1258-13_1258-5del) c.-212+2164_-212+2172del (n.-212+2164_-212+2172del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306041_52306043delinsTTC | CA2036432413 | KRT81,KRT86 | c.1027-19_1027-17delinsTTC (n.1027-19_1027-17delinsTTC) c.1258-19_1258-17delinsTTC (n.1258-19_1258-17delinsTTC) c.-212+2168_-212+2170delinsGAA (n.-212+2168_-212+2170delinsGAA) | |
12 | g.52306047_52306048dup | CA6577046 | KRT81,KRT86 | c.1027-13_1027-12dup (n.1027-13_1027-12dup) c.1258-13_1258-12dup (n.1258-13_1258-12dup) c.-212+2168_-212+2169dup (n.-212+2168_-212+2169dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306047_52306048del | CA6577047 | KRT81,KRT86 | c.1027-13_1027-12del (n.1027-13_1027-12del) c.1258-13_1258-12del (n.1258-13_1258-12del) c.-212+2168_-212+2169del (n.-212+2168_-212+2169del) | dbSNP ExAC gnomAD v2 |
12 | g.52306043C>A | CA2575163450 | KRT81,KRT86 | c.1027-17C>A (n.1027-17C>A) c.1258-17C>A (n.1258-17C>A) c.-212+2168G>T (n.-212+2168G>T) | gnomAD v4 |
12 | g.52306043C= | CA2036432415 | KRT81,KRT86 | c.1027-17C= (n.1027-17C=) c.1258-17C= (n.1258-17C=) c.-212+2168G= (n.-212+2168G=) | |
12 | g.52306043C>G | CA2036432414 | KRT81,KRT86 | c.1027-17C>G (n.1027-17C>G) c.1258-17C>G (n.1258-17C>G) c.-212+2168G>C (n.-212+2168G>C) | dbSNP |
12 | g.52306043C>T | CA2618905843 | KRT81,KRT86 | c.1027-17C>T (n.1027-17C>T) c.1258-17C>T (n.1258-17C>T) c.-212+2168G>A (n.-212+2168G>A) | gnomAD v4 |
12 | g.52306045C= | CA2036432417 | KRT81,KRT86 | c.1027-15C= (n.1027-15C=) c.1258-15C= (n.1258-15C=) c.-212+2166G= (n.-212+2166G=) | |
12 | g.52306045C>G | CA2036432416 | KRT81,KRT86 | c.1027-15C>G (n.1027-15C>G) c.1258-15C>G (n.1258-15C>G) c.-212+2166G>C (n.-212+2166G>C) | dbSNP gnomAD v4 |
12 | g.52306045C>T | CA6577048 | KRT81,KRT86 | c.1027-15C>T (n.1027-15C>T) c.1258-15C>T (n.1258-15C>T) c.-212+2166G>A (n.-212+2166G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306049G>C | CA2618905852 | KRT81,KRT86 | c.1027-11G>C (n.1027-11G>C) c.1258-11G>C (n.1258-11G>C) c.-212+2162C>G (n.-212+2162C>G) | gnomAD v4 |
12 | g.52306049G= | CA2036432418 | KRT81,KRT86 | c.1027-11G= (n.1027-11G=) c.1258-11G= (n.1258-11G=) c.-212+2162C= (n.-212+2162C=) | |
12 | g.52306049G>T | CA237206291 | KRT81,KRT86 | c.1027-11G>T (n.1027-11G>T) c.1258-11G>T (n.1258-11G>T) c.-212+2162C>A (n.-212+2162C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306052C>A | CA2036432420 | KRT81,KRT86 | c.1027-8C>A (n.1027-8C>A) c.1258-8C>A (n.1258-8C>A) c.-212+2159G>T (n.-212+2159G>T) | dbSNP |
12 | g.52306052C= | CA2036432419 | KRT81,KRT86 | c.1027-8C= (n.1027-8C=) c.1258-8C= (n.1258-8C=) c.-212+2159G= (n.-212+2159G=) | |
12 | g.52306052C>G | CA2036432421 | KRT81,KRT86 | c.1027-8C>G (n.1027-8C>G) c.1258-8C>G (n.1258-8C>G) c.-212+2159G>C (n.-212+2159G>C) | dbSNP gnomAD v4 |
12 | g.52306052C>T | CA2618905854 | KRT81,KRT86 | c.1027-8C>T (n.1027-8C>T) c.1258-8C>T (n.1258-8C>T) c.-212+2159G>A (n.-212+2159G>A) | gnomAD v4 |
12 | g.52306053T>C | CA2618905855 | KRT81,KRT86 | c.1027-7T>C (n.1027-7T>C) c.1258-7T>C (n.1258-7T>C) c.-212+2158A>G (n.-212+2158A>G) | gnomAD v4 |
12 | g.52306054C>T | CA2575163451 | KRT81,KRT86 | c.1027-6C>T (n.1027-6C>T) c.1258-6C>T (n.1258-6C>T) c.-212+2157G>A (n.-212+2157G>A) | |
12 | g.52306058A= | CA2036432422 | KRT81,KRT86 | c.1027-2A= (n.1027-2A=) c.1258-2A= (n.1258-2A=) c.-212+2153T= (n.-212+2153T=) | |
12 | g.52306058A>C | CA384918838 | KRT81,KRT86 | c.1027-2A>C (n.1027-2A>C) c.1258-2A>C (n.1258-2A>C) c.-212+2153T>G (n.-212+2153T>G) | |
12 | g.52306058A>G | CA6577049 | KRT81,KRT86 | c.1027-2A>G (n.1027-2A>G) c.1258-2A>G (n.1258-2A>G) c.-212+2153T>C (n.-212+2153T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.52306058A>T | CA384918839 | KRT81,KRT86 | c.1027-2A>T (n.1027-2A>T) c.1258-2A>T (n.1258-2A>T) c.-212+2153T>A (n.-212+2153T>A) | |
12 | g.52306059G>A | CA384918840 | KRT81,KRT86 | c.1027-1G>A (n.1027-1G>A) c.1258-1G>A (n.1258-1G>A) c.-212+2152C>T (n.-212+2152C>T) | |
12 | g.52306059G>C | CA384918841 | KRT81,KRT86 | c.1027-1G>C (n.1027-1G>C) c.1258-1G>C (n.1258-1G>C) c.-212+2152C>G (n.-212+2152C>G) | COSMIC |
12 | g.52306059G>T | CA384918842 | KRT81,KRT86 | c.1027-1G>T (n.1027-1G>T) c.1258-1G>T (n.1258-1G>T) c.-212+2152C>A (n.-212+2152C>A) | |
12 | g.52306059_52306063dup | CA2618905858 | KRT81,KRT86 | c.1027-1_1030dup c.1258-1_1261dup c.-212+2148_-212+2152dup (n.-212+2148_-212+2152dup) | gnomAD v4 |
12 | g.52306060A>C | CA384918843 | KRT81,KRT86 | c.1027A>C (p.Asn343His) c.1258A>C (p.Asn420His) c.-212+2151T>G (n.-212+2151T>G) | |
12 | g.52306060A>G | CA384918844 | KRT81,KRT86 | c.1027A>G (p.Asn343Asp) c.1258A>G (p.Asn420Asp) c.-212+2151T>C (n.-212+2151T>C) | |
12 | g.52306060A>T | CA384918845 | KRT81,KRT86 | c.1027A>T (p.Asn343Tyr) c.1258A>T (p.Asn420Tyr) c.-212+2151T>A (n.-212+2151T>A) | |
12 | g.52306061A>C | CA384918846 | KRT81,KRT86 | c.1028A>C (p.Asn343Thr) c.1259A>C (p.Asn420Thr) c.-212+2150T>G (n.-212+2150T>G) | |
12 | g.52306061A>G | CA384918848 | KRT81,KRT86 | c.1028A>G (p.Asn343Ser) c.1259A>G (p.Asn420Ser) c.-212+2150T>C (n.-212+2150T>C) | |
12 | g.52306061A>T | CA384918847 | KRT81,KRT86 | c.1028A>T (p.Asn343Ile) c.1259A>T (p.Asn420Ile) c.-212+2150T>A (n.-212+2150T>A) | |
12 | g.52306062T>A | CA384918849 | KRT81,KRT86 | c.1029T>A (p.Asn343Lys) c.1260T>A (p.Asn420Lys) c.-212+2149A>T (n.-212+2149A>T) | |
12 | g.52306062T>C | CA6577050 | KRT81,KRT86 | c.1029T>C (p.Asn343=) c.1260T>C (p.Asn420=) c.-212+2149A>G (n.-212+2149A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306062T>G | CA384918850 | KRT81,KRT86 | c.1029T>G (p.Asn343Lys) c.1260T>G (p.Asn420Lys) c.-212+2149A>C (n.-212+2149A>C) | |
12 | g.52306062T= | CA2036432423 | KRT81,KRT86 | c.1029T= (p.Asn343=) c.1260T= (p.Asn420=) c.-212+2149A= (n.-212+2149A=) | |
12 | g.52306063T>A | CA384918851 | KRT81,KRT86 | c.1030T>A (p.Ser344Thr) c.1261T>A (p.Ser421Thr) c.-212+2148A>T (n.-212+2148A>T) | |
12 | g.52306063T>C | CA384918852 | KRT81,KRT86 | c.1030T>C (p.Ser344Pro) c.1261T>C (p.Ser421Pro) c.-212+2148A>G (n.-212+2148A>G) | |
12 | g.52306063T>G | CA384918853 | KRT81,KRT86 | c.1030T>G (p.Ser344Ala) c.1261T>G (p.Ser421Ala) c.-212+2148A>C (n.-212+2148A>C) | |
12 | g.52306064C>A | CA384918854 | KRT81,KRT86 | c.1031C>A (p.Ser344Tyr) c.1262C>A (p.Ser421Tyr) c.-212+2147G>T (n.-212+2147G>T) | |
12 | g.52306064C= | CA2036432424 | KRT81,KRT86 | c.1031C= (p.Ser344=) c.1262C= (p.Ser421=) c.-212+2147G= (n.-212+2147G=) | |
12 | g.52306064C>G | CA384918855 | KRT81,KRT86 | c.1031C>G (p.Ser344Cys) c.1262C>G (p.Ser421Cys) c.-212+2147G>C (n.-212+2147G>C) | |
12 | g.52306064C>T | CA384918856 | KRT81,KRT86 | c.1031C>T (p.Ser344Phe) c.1262C>T (p.Ser421Phe) c.-212+2147G>A (n.-212+2147G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.52306065C>A | CA480065417 | KRT81,KRT86 | c.1032C>A (p.Ser344=) c.1263C>A (p.Ser421=) c.-212+2146G>T (n.-212+2146G>T) | |
12 | g.52306065C>G | CA480065418 | KRT81,KRT86 | c.1032C>G (p.Ser344=) c.1263C>G (p.Ser421=) c.-212+2146G>C (n.-212+2146G>C) | |
12 | g.52306065C>T | CA480065419 | KRT81,KRT86 | c.1032C>T (p.Ser344=) c.1263C>T (p.Ser421=) c.-212+2146G>A (n.-212+2146G>A) | |
12 | g.52306066A= | CA2036432425 | KRT81,KRT86 | c.1033A= (p.Lys345=) c.1264A= (p.Lys422=) c.-212+2145T= (n.-212+2145T=) | |
12 | g.52306066A>C | CA384918857 | KRT81,KRT86 | c.1033A>C (p.Lys345Gln) c.1264A>C (p.Lys422Gln) c.-212+2145T>G (n.-212+2145T>G) | gnomAD v4 |
12 | g.52306066A>G | CA384918858 | KRT81,KRT86 | c.1033A>G (p.Lys345Glu) c.1264A>G (p.Lys422Glu) c.-212+2145T>C (n.-212+2145T>C) | |
12 | g.52306066A>T | CA6577051 | KRT81,KRT86 | c.1033A>T (p.Lys345Ter) c.1264A>T (p.Lys422Ter) c.-212+2145T>A (n.-212+2145T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306067A= | CA2036432426 | KRT81,KRT86 | c.1034A= (p.Lys345=) c.1265A= (p.Lys422=) c.-212+2144T= (n.-212+2144T=) | |
12 | g.52306067A>C | CA384918859 | KRT81,KRT86 | c.1034A>C (p.Lys345Thr) c.1265A>C (p.Lys422Thr) c.-212+2144T>G (n.-212+2144T>G) | |
12 | g.52306067A>G | CA6577052 | KRT81,KRT86 | c.1034A>G (p.Lys345Arg) c.1265A>G (p.Lys422Arg) c.-212+2144T>C (n.-212+2144T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306067A>T | CA6577053 | KRT81,KRT86 | c.1034A>T (p.Lys345Met) c.1265A>T (p.Lys422Met) c.-212+2144T>A (n.-212+2144T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306068G>A | CA480065420 | KRT81,KRT86 | c.1035G>A (p.Lys345=) c.1266G>A (p.Lys422=) c.-212+2143C>T (n.-212+2143C>T) | |
12 | g.52306068G>C | CA384918861 | KRT81,KRT86 | c.1035G>C (p.Lys345Asn) c.1266G>C (p.Lys422Asn) c.-212+2143C>G (n.-212+2143C>G) | |
12 | g.52306068G>T | CA384918860 | KRT81,KRT86 | c.1035G>T (p.Lys345Asn) c.1266G>T (p.Lys422Asn) c.-212+2143C>A (n.-212+2143C>A) | |
12 | g.52306069C>A | CA384918862 | KRT81,KRT86 | c.1036C>A (p.Leu346Met) c.1267C>A (p.Leu423Met) c.-212+2142G>T (n.-212+2142G>T) | |
12 | g.52306069C= | CA2036432427 | KRT81,KRT86 | c.1036C= (p.Leu346=) c.1267C= (p.Leu423=) c.-212+2142G= (n.-212+2142G=) | |
12 | g.52306069C>G | CA384918863 | KRT81,KRT86 | c.1036C>G (p.Leu346Val) c.1267C>G (p.Leu423Val) c.-212+2142G>C (n.-212+2142G>C) | |
12 | g.52306069C>T | CA6577054 | KRT81,KRT86 | c.1036C>T (p.Leu346=) c.1267C>T (p.Leu423=) c.-212+2142G>A (n.-212+2142G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306070T>A | CA384918864 | KRT81,KRT86 | c.1037T>A (p.Leu346Gln) c.1268T>A (p.Leu423Gln) c.-212+2141A>T (n.-212+2141A>T) | |
12 | g.52306070T>C | CA384918865 | KRT81,KRT86 | c.1037T>C (p.Leu346Pro) c.1268T>C (p.Leu423Pro) c.-212+2141A>G (n.-212+2141A>G) | |
12 | g.52306070T>G | CA384918866 | KRT81,KRT86 | c.1037T>G (p.Leu346Arg) c.1268T>G (p.Leu423Arg) c.-212+2141A>C (n.-212+2141A>C) | |
12 | g.52306071G>A | CA480065421 | KRT81,KRT86 | c.1038G>A (p.Leu346=) c.1269G>A (p.Leu423=) c.-212+2140C>T (n.-212+2140C>T) | |
12 | g.52306071G>C | CA480065422 | KRT81,KRT86 | c.1038G>C (p.Leu346=) c.1269G>C (p.Leu423=) c.-212+2140C>G (n.-212+2140C>G) | |
12 | g.52306071G>T | CA480065423 | KRT81,KRT86 | c.1038G>T (p.Leu346=) c.1269G>T (p.Leu423=) c.-212+2140C>A (n.-212+2140C>A) | |
12 | g.52306072G>A | CA6577055 | KRT81,KRT86 | c.1039G>A (p.Glu347Lys) c.1270G>A (p.Glu424Lys) c.-212+2139C>T (n.-212+2139C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306072G>C | CA384918867 | KRT81,KRT86 | c.1039G>C (p.Glu347Gln) c.1270G>C (p.Glu424Gln) c.-212+2139C>G (n.-212+2139C>G) | |
12 | g.52306072G= | CA2036432428 | KRT81,KRT86 | c.1039G= (p.Glu347=) c.1270G= (p.Glu424=) c.-212+2139C= (n.-212+2139C=) | |
12 | g.52306072G>T | CA384918868 | KRT81,KRT86 | c.1039G>T (p.Glu347Ter) c.1270G>T (p.Glu424Ter) c.-212+2139C>A (n.-212+2139C>A) | |
12 | g.52306073A>C | CA384918869 | KRT81,KRT86 | c.1040A>C (p.Glu347Ala) c.1271A>C (p.Glu424Ala) c.-212+2138T>G (n.-212+2138T>G) | |
12 | g.52306073A>G | CA384918870 | KRT81,KRT86 | c.1040A>G (p.Glu347Gly) c.1271A>G (p.Glu424Gly) c.-212+2138T>C (n.-212+2138T>C) | |
12 | g.52306073A>T | CA384918871 | KRT81,KRT86 | c.1040A>T (p.Glu347Val) c.1271A>T (p.Glu424Val) c.-212+2138T>A (n.-212+2138T>A) | |
12 | g.52306074G>A | CA480065424 | KRT81,KRT86 | c.1041G>A (p.Glu347=) c.1272G>A (p.Glu424=) c.-212+2137C>T (n.-212+2137C>T) | |
12 | g.52306074G>C | CA384918873 | KRT81,KRT86 | c.1041G>C (p.Glu347Asp) c.1272G>C (p.Glu424Asp) c.-212+2137C>G (n.-212+2137C>G) | |
12 | g.52306074G>T | CA384918872 | KRT81,KRT86 | c.1041G>T (p.Glu347Asp) c.1272G>T (p.Glu424Asp) c.-212+2137C>A (n.-212+2137C>A) | |
12 | g.52306075G>A | CA384918874 | KRT81,KRT86 | c.1042G>A (p.Ala348Thr) c.1273G>A (p.Ala425Thr) c.-212+2136C>T (n.-212+2136C>T) | COSMIC |
12 | g.52306075G>C | CA384918876 | KRT81,KRT86 | c.1042G>C (p.Ala348Pro) c.1273G>C (p.Ala425Pro) c.-212+2136C>G (n.-212+2136C>G) | |
12 | g.52306075G>T | CA384918875 | KRT81,KRT86 | c.1042G>T (p.Ala348Ser) c.1273G>T (p.Ala425Ser) c.-212+2136C>A (n.-212+2136C>A) | |
12 | g.52306076C>A | CA384918877 | KRT81,KRT86 | c.1043C>A (p.Ala348Asp) c.1274C>A (p.Ala425Asp) c.-212+2135G>T (n.-212+2135G>T) | |
12 | g.52306076C>G | CA384918878 | KRT81,KRT86 | c.1043C>G (p.Ala348Gly) c.1274C>G (p.Ala425Gly) c.-212+2135G>C (n.-212+2135G>C) | |
12 | g.52306076C>T | CA384918879 | KRT81,KRT86 | c.1043C>T (p.Ala348Val) c.1274C>T (p.Ala425Val) c.-212+2135G>A (n.-212+2135G>A) | |
12 | g.52306077T>A | CA480065425 | KRT81,KRT86 | c.1044T>A (p.Ala348=) c.1275T>A (p.Ala425=) c.-212+2134A>T (n.-212+2134A>T) | |
12 | g.52306077T>C | CA6577056 | KRT81,KRT86 | c.1044T>C (p.Ala348=) c.1275T>C (p.Ala425=) c.-212+2134A>G (n.-212+2134A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306077T>G | CA480065426 | KRT81,KRT86 | c.1044T>G (p.Ala348=) c.1275T>G (p.Ala425=) c.-212+2134A>C (n.-212+2134A>C) | dbSNP gnomAD v4 |
12 | g.52306077T= | CA2036432429 | KRT81,KRT86 | c.1044T= (p.Ala348=) c.1275T= (p.Ala425=) c.-212+2134A= (n.-212+2134A=) | |
12 | g.52306078G>A | CA384918880 | KRT81,KRT86 | c.1045G>A (p.Ala349Thr) c.1276G>A (p.Ala426Thr) c.-212+2133C>T (n.-212+2133C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306078G>C | CA384918881 | KRT81,KRT86 | c.1045G>C (p.Ala349Pro) c.1276G>C (p.Ala426Pro) c.-212+2133C>G (n.-212+2133C>G) | |
12 | g.52306078G= | CA2036432430 | KRT81,KRT86 | c.1045G= (p.Ala349=) c.1276G= (p.Ala426=) c.-212+2133C= (n.-212+2133C=) | |
12 | g.52306078G>T | CA384918882 | KRT81,KRT86 | c.1045G>T (p.Ala349Ser) c.1276G>T (p.Ala426Ser) c.-212+2133C>A (n.-212+2133C>A) | |
12 | g.52306079C>A | CA384918883 | KRT81,KRT86 | c.1046C>A (p.Ala349Glu) c.1277C>A (p.Ala426Glu) c.-212+2132G>T (n.-212+2132G>T) | |
12 | g.52306079C= | CA2036432431 | KRT81,KRT86 | c.1046C= (p.Ala349=) c.1277C= (p.Ala426=) c.-212+2132G= (n.-212+2132G=) | |
12 | g.52306079C>G | CA384918884 | KRT81,KRT86 | c.1046C>G (p.Ala349Gly) c.1277C>G (p.Ala426Gly) c.-212+2132G>C (n.-212+2132G>C) | |
12 | g.52306079C>T | CA6577057 | KRT81,KRT86 | c.1046C>T (p.Ala349Val) c.1277C>T (p.Ala426Val) c.-212+2132G>A (n.-212+2132G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306080G>A | CA6577058 | KRT81,KRT86 | c.1047G>A (p.Ala349=) c.1278G>A (p.Ala426=) c.-212+2131C>T (n.-212+2131C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306080G>C | CA480065427 | KRT81,KRT86 | c.1047G>C (p.Ala349=) c.1278G>C (p.Ala426=) c.-212+2131C>G (n.-212+2131C>G) | |
12 | g.52306080G= | CA2036432432 | KRT81,KRT86 | c.1047G= (p.Ala349=) c.1278G= (p.Ala426=) c.-212+2131C= (n.-212+2131C=) | |
12 | g.52306080G>T | CA480065428 | KRT81,KRT86 | c.1047G>T (p.Ala349=) c.1278G>T (p.Ala426=) c.-212+2131C>A (n.-212+2131C>A) | dbSNP |
12 | g.52306082_52306084dup | CA2575163452 | KRT81,KRT86 | c.1049_1051dup (p.Val350_Ala351insVal) c.1280_1282dup (p.Val427_Ala428insVal) c.-212+2129_-212+2131dup (n.-212+2129_-212+2131dup) | gnomAD v4 |
12 | g.52306081G>A | CA384918887 | KRT81,KRT86 | c.1048G>A (p.Val350Met) c.1279G>A (p.Val427Met) c.-212+2130C>T (n.-212+2130C>T) | |
12 | g.52306081G>C | CA384918886 | KRT81,KRT86 | c.1048G>C (p.Val350Leu) c.1279G>C (p.Val427Leu) c.-212+2130C>G (n.-212+2130C>G) | |
12 | g.52306081G>T | CA384918885 | KRT81,KRT86 | c.1048G>T (p.Val350Leu) c.1279G>T (p.Val427Leu) c.-212+2130C>A (n.-212+2130C>A) | |
12 | g.52306082T>A | CA384918888 | KRT81,KRT86 | c.1049T>A (p.Val350Glu) c.1280T>A (p.Val427Glu) c.-212+2129A>T (n.-212+2129A>T) | |
12 | g.52306082T>C | CA384918889 | KRT81,KRT86 | c.1049T>C (p.Val350Ala) c.1280T>C (p.Val427Ala) c.-212+2129A>G (n.-212+2129A>G) | |
12 | g.52306082T>G | CA384918890 | KRT81,KRT86 | c.1049T>G (p.Val350Gly) c.1280T>G (p.Val427Gly) c.-212+2129A>C (n.-212+2129A>C) | |
12 | g.52306083G>A | CA6577059 | KRT81,KRT86 | c.1050G>A (p.Val350=) c.1281G>A (p.Val427=) c.-212+2128C>T (n.-212+2128C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.52306083G>C | CA480065430 | KRT81,KRT86 | c.1050G>C (p.Val350=) c.1281G>C (p.Val427=) c.-212+2128C>G (n.-212+2128C>G) | |
12 | g.52306083G= | CA2036432433 | KRT81,KRT86 | c.1050G= (p.Val350=) c.1281G= (p.Val427=) c.-212+2128C= (n.-212+2128C=) | |
12 | g.52306083G>T | CA480065429 | KRT81,KRT86 | c.1050G>T (p.Val350=) c.1281G>T (p.Val427=) c.-212+2128C>A (n.-212+2128C>A) | |
12 | g.52306084G>A | CA6577060 | KRT81,KRT86 | c.1051G>A (p.Ala351Thr) c.1282G>A (p.Ala428Thr) c.-212+2127C>T (n.-212+2127C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306084G>C | CA384918891 | KRT81,KRT86 | c.1051G>C (p.Ala351Pro) c.1282G>C (p.Ala428Pro) c.-212+2127C>G (n.-212+2127C>G) | |
12 | g.52306084G= | CA2036432434 | KRT81,KRT86 | c.1051G= (p.Ala351=) c.1282G= (p.Ala428=) c.-212+2127C= (n.-212+2127C=) | |
12 | g.52306084G>T | CA384918892 | KRT81,KRT86 | c.1051G>T (p.Ala351Ser) c.1282G>T (p.Ala428Ser) c.-212+2127C>A (n.-212+2127C>A) | |
12 | g.52306085C>A | CA384918893 | KRT81,KRT86 | c.1052C>A (p.Ala351Asp) c.1283C>A (p.Ala428Asp) c.-212+2126G>T (n.-212+2126G>T) | |
12 | g.52306085C>G | CA384918894 | KRT81,KRT86 | c.1052C>G (p.Ala351Gly) c.1283C>G (p.Ala428Gly) c.-212+2126G>C (n.-212+2126G>C) | gnomAD v4 |
12 | g.52306085C>T | CA384918895 | KRT81,KRT86 | c.1052C>T (p.Ala351Val) c.1283C>T (p.Ala428Val) c.-212+2126G>A (n.-212+2126G>A) | |
12 | g.52306086T>A | CA6577062 | KRT81,KRT86 | c.1053T>A (p.Ala351=) c.1284T>A (p.Ala428=) c.-212+2125A>T (n.-212+2125A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306086T>C | CA6577061 | KRT81,KRT86 | c.1053T>C (p.Ala351=) c.1284T>C (p.Ala428=) c.-212+2125A>G (n.-212+2125A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306086T>G | CA480065431 | KRT81,KRT86 | c.1053T>G (p.Ala351=) c.1284T>G (p.Ala428=) c.-212+2125A>C (n.-212+2125A>C) | |
12 | g.52306086T= | CA2036432435 | KRT81,KRT86 | c.1053T= (p.Ala351=) c.1284T= (p.Ala428=) c.-212+2125A= (n.-212+2125A=) | |
12 | g.52306087C>A | CA384918896 | KRT81,KRT86 | c.1054C>A (p.Gln352Lys) c.1285C>A (p.Gln429Lys) c.-212+2124G>T (n.-212+2124G>T) | |
12 | g.52306087C>G | CA384918898 | KRT81,KRT86 | c.1054C>G (p.Gln352Glu) c.1285C>G (p.Gln429Glu) c.-212+2124G>C (n.-212+2124G>C) | gnomAD v4 |
12 | g.52306087C>T | CA384918897 | KRT81,KRT86 | c.1054C>T (p.Gln352Ter) c.1285C>T (p.Gln429Ter) c.-212+2124G>A (n.-212+2124G>A) | |
12 | g.52306088A>C | CA384918899 | KRT81,KRT86 | c.1055A>C (p.Gln352Pro) c.1286A>C (p.Gln429Pro) c.-212+2123T>G (n.-212+2123T>G) | |
12 | g.52306088A>G | CA384918901 | KRT81,KRT86 | c.1055A>G (p.Gln352Arg) c.1286A>G (p.Gln429Arg) c.-212+2123T>C (n.-212+2123T>C) | |
12 | g.52306088A>T | CA384918900 | KRT81,KRT86 | c.1055A>T (p.Gln352Leu) c.1286A>T (p.Gln429Leu) c.-212+2123T>A (n.-212+2123T>A) | gnomAD v4 |
12 | g.52306089G>A | CA480065432 | KRT81,KRT86 | c.1056G>A (p.Gln352=) c.1287G>A (p.Gln429=) c.-212+2122C>T (n.-212+2122C>T) | gnomAD v4 |
12 | g.52306089G>C | CA384918902 | KRT81,KRT86 | c.1056G>C (p.Gln352His) c.1287G>C (p.Gln429His) c.-212+2122C>G (n.-212+2122C>G) | |
12 | g.52306089G>T | CA384918903 | KRT81,KRT86 | c.1056G>T (p.Gln352His) c.1287G>T (p.Gln429His) c.-212+2122C>A (n.-212+2122C>A) | |
12 | g.52306090T>A | CA384918904 | KRT81,KRT86 | c.1057T>A (p.Ser353Thr) c.1288T>A (p.Ser430Thr) c.-212+2121A>T (n.-212+2121A>T) | |
12 | g.52306090T>C | CA384918906 | KRT81,KRT86 | c.1057T>C (p.Ser353Pro) c.1288T>C (p.Ser430Pro) c.-212+2121A>G (n.-212+2121A>G) | gnomAD v4 |
12 | g.52306090T>G | CA384918905 | KRT81,KRT86 | c.1057T>G (p.Ser353Ala) c.1288T>G (p.Ser430Ala) c.-212+2121A>C (n.-212+2121A>C) | |
12 | g.52306091C>A | CA384918907 | KRT81,KRT86 | c.1058C>A (p.Ser353Tyr) c.1289C>A (p.Ser430Tyr) c.-212+2120G>T (n.-212+2120G>T) | |
12 | g.52306091C= | CA2036432436 | KRT81,KRT86 | c.1058C= (p.Ser353=) c.1289C= (p.Ser430=) c.-212+2120G= (n.-212+2120G=) | |
12 | g.52306091C>G | CA237206359 | KRT81,KRT86 | c.1058C>G (p.Ser353Cys) c.1289C>G (p.Ser430Cys) c.-212+2120G>C (n.-212+2120G>C) | dbSNP |
12 | g.52306091C>T | CA384918908 | KRT81,KRT86 | c.1058C>T (p.Ser353Phe) c.1289C>T (p.Ser430Phe) c.-212+2120G>A (n.-212+2120G>A) | |
12 | g.52306092T>A | CA480065436 | KRT81,KRT86 | c.1059T>A (p.Ser353=) c.1290T>A (p.Ser430=) c.-212+2119A>T (n.-212+2119A>T) | |
12 | g.52306092T>C | CA480065433 | KRT81,KRT86 | c.1059T>C (p.Ser353=) c.1290T>C (p.Ser430=) c.-212+2119A>G (n.-212+2119A>G) | |
12 | g.52306092T>G | CA480065434 | KRT81,KRT86 | c.1059T>G (p.Ser353=) c.1290T>G (p.Ser430=) c.-212+2119A>C (n.-212+2119A>C) | |
12 | g.52306093G>A | CA384918909 | KRT81,KRT86 | c.1060G>A (p.Glu354Lys) c.1291G>A (p.Glu431Lys) c.-212+2118C>T (n.-212+2118C>T) | |
12 | g.52306093G>C | CA384918910 | KRT81,KRT86 | c.1060G>C (p.Glu354Gln) c.1291G>C (p.Glu431Gln) c.-212+2118C>G (n.-212+2118C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306093G= | CA2036432437 | KRT81,KRT86 | c.1060G= (p.Glu354=) c.1291G= (p.Glu431=) c.-212+2118C= (n.-212+2118C=) | |
12 | g.52306093G>T | CA384918911 | KRT81,KRT86 | c.1060G>T (p.Glu354Ter) c.1291G>T (p.Glu431Ter) c.-212+2118C>A (n.-212+2118C>A) | |
12 | g.52306094A>C | CA384918914 | KRT81,KRT86 | c.1061A>C (p.Glu354Ala) c.1292A>C (p.Glu431Ala) c.-212+2117T>G (n.-212+2117T>G) | |
12 | g.52306094A>G | CA384918912 | KRT81,KRT86 | c.1061A>G (p.Glu354Gly) c.1292A>G (p.Glu431Gly) c.-212+2117T>C (n.-212+2117T>C) | |
12 | g.52306094A>T | CA384918913 | KRT81,KRT86 | c.1061A>T (p.Glu354Val) c.1292A>T (p.Glu431Val) c.-212+2117T>A (n.-212+2117T>A) | |
12 | g.52306095G>A | CA480065437 | KRT81,KRT86 | c.1062G>A (p.Glu354=) c.1293G>A (p.Glu431=) c.-212+2116C>T (n.-212+2116C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306095G>C | CA384918915 | KRT81,KRT86 | c.1062G>C (p.Glu354Asp) c.1293G>C (p.Glu431Asp) c.-212+2116C>G (n.-212+2116C>G) | |
12 | g.52306095G= | CA2036432438 | KRT81,KRT86 | c.1062G= (p.Glu354=) c.1293G= (p.Glu431=) c.-212+2116C= (n.-212+2116C=) | |
12 | g.52306095G>T | CA6577063 | KRT81,KRT86 | c.1062G>T (p.Glu354Asp) c.1293G>T (p.Glu431Asp) c.-212+2116C>A (n.-212+2116C>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.52306096C>A | CA384918916 | KRT81,KRT86 | c.1063C>A (p.Gln355Lys) c.1294C>A (p.Gln432Lys) c.-212+2115G>T (n.-212+2115G>T) | |
12 | g.52306096C>G | CA384918917 | KRT81,KRT86 | c.1063C>G (p.Gln355Glu) c.1294C>G (p.Gln432Glu) c.-212+2115G>C (n.-212+2115G>C) | |
12 | g.52306096C>T | CA384918918 | KRT81,KRT86 | c.1063C>T (p.Gln355Ter) c.1294C>T (p.Gln432Ter) c.-212+2115G>A (n.-212+2115G>A) | |
12 | g.52306097A>C | CA384918921 | KRT81,KRT86 | c.1064A>C (p.Gln355Pro) c.1295A>C (p.Gln432Pro) c.-212+2114T>G (n.-212+2114T>G) | |
12 | g.52306097A>G | CA384918919 | KRT81,KRT86 | c.1064A>G (p.Gln355Arg) c.1295A>G (p.Gln432Arg) c.-212+2114T>C (n.-212+2114T>C) | gnomAD v4 |
12 | g.52306097A>T | CA384918920 | KRT81,KRT86 | c.1064A>T (p.Gln355Leu) c.1295A>T (p.Gln432Leu) c.-212+2114T>A (n.-212+2114T>A) | |
12 | g.52306098G>A | CA480065439 | KRT81,KRT86 | c.1065G>A (p.Gln355=) c.1296G>A (p.Gln432=) c.-212+2113C>T (n.-212+2113C>T) | dbSNP gnomAD v2 |
12 | g.52306098G>C | CA384918922 | KRT81,KRT86 | c.1065G>C (p.Gln355His) c.1296G>C (p.Gln432His) c.-212+2113C>G (n.-212+2113C>G) | |
12 | g.52306098G= | CA2036432439 | KRT81,KRT86 | c.1065G= (p.Gln355=) c.1296G= (p.Gln432=) c.-212+2113C= (n.-212+2113C=) | |
12 | g.52306098G>T | CA384918923 | KRT81,KRT86 | c.1065G>T (p.Gln355His) c.1296G>T (p.Gln432His) c.-212+2113C>A (n.-212+2113C>A) | |
12 | g.52306099C>A | CA384918924 | KRT81,KRT86 | c.1066C>A (p.Gln356Lys) c.1297C>A (p.Gln433Lys) c.-212+2112G>T (n.-212+2112G>T) | dbSNP |
12 | g.52306099C= | CA2036432440 | KRT81,KRT86 | c.1066C= (p.Gln356=) c.1297C= (p.Gln433=) c.-212+2112G= (n.-212+2112G=) | |
12 | g.52306099C>G | CA6577065 | KRT81,KRT86 | c.1066C>G (p.Gln356Glu) c.1297C>G (p.Gln433Glu) c.-212+2112G>C (n.-212+2112G>C) | dbSNP ExAC gnomAD v2 |
12 | g.52306099C>T | CA6577064 | KRT81,KRT86 | c.1066C>T (p.Gln356Ter) c.1297C>T (p.Gln433Ter) c.-212+2112G>A (n.-212+2112G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306100A>C | CA384918925 | KRT81,KRT86 | c.1067A>C (p.Gln356Pro) c.1298A>C (p.Gln433Pro) c.-212+2111T>G (n.-212+2111T>G) | |
12 | g.52306100A>G | CA384918926 | KRT81,KRT86 | c.1067A>G (p.Gln356Arg) c.1298A>G (p.Gln433Arg) c.-212+2111T>C (n.-212+2111T>C) | |
12 | g.52306100A>T | CA384918927 | KRT81,KRT86 | c.1067A>T (p.Gln356Leu) c.1298A>T (p.Gln433Leu) c.-212+2111T>A (n.-212+2111T>A) | |
12 | g.52306101G>A | CA480065441 | KRT81,KRT86 | c.1068G>A (p.Gln356=) c.1299G>A (p.Gln433=) c.-212+2110C>T (n.-212+2110C>T) | |
12 | g.52306101G>C | CA384918928 | KRT81,KRT86 | c.1068G>C (p.Gln356His) c.1299G>C (p.Gln433His) c.-212+2110C>G (n.-212+2110C>G) | |
12 | g.52306101G>T | CA384918929 | KRT81,KRT86 | c.1068G>T (p.Gln356His) c.1299G>T (p.Gln433His) c.-212+2110C>A (n.-212+2110C>A) | |
12 | g.52306102G>A | CA384918930 | KRT81,KRT86 | c.1069G>A (p.Gly357Ser) c.1300G>A (p.Gly434Ser) c.-212+2109C>T (n.-212+2109C>T) | |
12 | g.52306102G>C | CA6577066 | KRT81,KRT86 | c.1069G>C (p.Gly357Arg) c.1300G>C (p.Gly434Arg) c.-212+2109C>G (n.-212+2109C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306102G= | CA2036432441 | KRT81,KRT86 | c.1069G= (p.Gly357=) c.1300G= (p.Gly434=) c.-212+2109C= (n.-212+2109C=) | |
12 | g.52306102G>T | CA384918931 | KRT81,KRT86 | c.1069G>T (p.Gly357Cys) c.1300G>T (p.Gly434Cys) c.-212+2109C>A (n.-212+2109C>A) | |
12 | g.52306103G>A | CA384918932 | KRT81,KRT86 | c.1070G>A (p.Gly357Asp) c.1301G>A (p.Gly434Asp) c.-212+2108C>T (n.-212+2108C>T) | dbSNP gnomAD v4 |
12 | g.52306103G>C | CA384918934 | KRT81,KRT86 | c.1070G>C (p.Gly357Ala) c.1301G>C (p.Gly434Ala) c.-212+2108C>G (n.-212+2108C>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306103G= | CA2036432442 | KRT81,KRT86 | c.1070G= (p.Gly357=) c.1301G= (p.Gly434=) c.-212+2108C= (n.-212+2108C=) | |
12 | g.52306103G>T | CA384918933 | KRT81,KRT86 | c.1070G>T (p.Gly357Val) c.1301G>T (p.Gly434Val) c.-212+2108C>A (n.-212+2108C>A) | |
12 | g.52306104T>A | CA480065442 | KRT81,KRT86 | c.1071T>A (p.Gly357=) c.1302T>A (p.Gly434=) c.-212+2107A>T (n.-212+2107A>T) | |
12 | g.52306104T>C | CA480065443 | KRT81,KRT86 | c.1071T>C (p.Gly357=) c.1302T>C (p.Gly434=) c.-212+2107A>G (n.-212+2107A>G) | |
12 | g.52306104T>G | CA480065444 | KRT81,KRT86 | c.1071T>G (p.Gly357=) c.1302T>G (p.Gly434=) c.-212+2107A>C (n.-212+2107A>C) | |
12 | g.52306105G>A | CA384918935 | KRT81,KRT86 | c.1072G>A (p.Glu358Lys) c.1303G>A (p.Glu435Lys) c.-212+2106C>T (n.-212+2106C>T) | |
12 | g.52306105G>C | CA384918936 | KRT81,KRT86 | c.1072G>C (p.Glu358Gln) c.1303G>C (p.Glu435Gln) c.-212+2106C>G (n.-212+2106C>G) | |
12 | g.52306105G>T | CA384918937 | KRT81,KRT86 | c.1072G>T (p.Glu358Ter) c.1303G>T (p.Glu435Ter) c.-212+2106C>A (n.-212+2106C>A) | |
12 | g.52306106A>C | CA384918938 | KRT81,KRT86 | c.1073A>C (p.Glu358Ala) c.1304A>C (p.Glu435Ala) c.-212+2105T>G (n.-212+2105T>G) | |
12 | g.52306106A>G | CA384918939 | KRT81,KRT86 | c.1073A>G (p.Glu358Gly) c.1304A>G (p.Glu435Gly) c.-212+2105T>C (n.-212+2105T>C) | |
12 | g.52306106A>T | CA384918940 | KRT81,KRT86 | c.1073A>T (p.Glu358Val) c.1304A>T (p.Glu435Val) c.-212+2105T>A (n.-212+2105T>A) | |
12 | g.52306107G>A | CA480065446 | KRT81,KRT86 | c.1074G>A (p.Glu358=) c.1305G>A (p.Glu435=) c.-212+2104C>T (n.-212+2104C>T) | gnomAD v4 |
12 | g.52306107G>C | CA384918941 | KRT81,KRT86 | c.1074G>C (p.Glu358Asp) c.1305G>C (p.Glu435Asp) c.-212+2104C>G (n.-212+2104C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306107G= | CA2036432443 | KRT81,KRT86 | c.1074G= (p.Glu358=) c.1305G= (p.Glu435=) c.-212+2104C= (n.-212+2104C=) | |
12 | g.52306107G>T | CA384918942 | KRT81,KRT86 | c.1074G>T (p.Glu358Asp) c.1305G>T (p.Glu435Asp) c.-212+2104C>A (n.-212+2104C>A) | |
12 | g.52306108G>A | CA384918943 | KRT81,KRT86 | c.1075G>A (p.Ala359Thr) c.1306G>A (p.Ala436Thr) c.-212+2103C>T (n.-212+2103C>T) | |
12 | g.52306108G>C | CA384918944 | KRT81,KRT86 | c.1075G>C (p.Ala359Pro) c.1306G>C (p.Ala436Pro) c.-212+2103C>G (n.-212+2103C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306108G= | CA2036432444 | KRT81,KRT86 | c.1075G= (p.Ala359=) c.1306G= (p.Ala436=) c.-212+2103C= (n.-212+2103C=) | |
12 | g.52306108G>T | CA384918945 | KRT81,KRT86 | c.1075G>T (p.Ala359Ser) c.1306G>T (p.Ala436Ser) c.-212+2103C>A (n.-212+2103C>A) | gnomAD v4 |
12 | g.52306109C>A | CA384918946 | KRT81,KRT86 | c.1076C>A (p.Ala359Glu) c.1307C>A (p.Ala436Glu) c.-212+2102G>T (n.-212+2102G>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.52306109C= | CA2036432445 | KRT81,KRT86 | c.1076C= (p.Ala359=) c.1307C= (p.Ala436=) c.-212+2102G= (n.-212+2102G=) | |
12 | g.52306109C>G | CA384918947 | KRT81,KRT86 | c.1076C>G (p.Ala359Gly) c.1307C>G (p.Ala436Gly) c.-212+2102G>C (n.-212+2102G>C) | |
12 | g.52306109C>T | CA6577067 | KRT81,KRT86 | c.1076C>T (p.Ala359Val) c.1307C>T (p.Ala436Val) c.-212+2102G>A (n.-212+2102G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.52306110G>A | CA6577068 | KRT81,KRT86 | c.1077G>A (p.Ala359=) c.1308G>A (p.Ala436=) c.-212+2101C>T (n.-212+2101C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.52306110G>C | CA480065450 | KRT81,KRT86 | c.1077G>C (p.Ala359=) c.1308G>C (p.Ala436=) c.-212+2101C>G (n.-212+2101C>G) | |
12 | g.52306110G= | CA2036432446 | KRT81,KRT86 | c.1077G= (p.Ala359=) c.1308G= (p.Ala436=) c.-212+2101C= (n.-212+2101C=) | |
12 | g.52306110G>T | CA480065451 | KRT81,KRT86 | c.1077G>T (p.Ala359=) c.1308G>T (p.Ala436=) c.-212+2101C>A (n.-212+2101C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306111G>A | CA384918948 | KRT81,KRT86 | c.1078G>A (p.Ala360Thr) c.1309G>A (p.Ala437Thr) c.-212+2100C>T (n.-212+2100C>T) | |
12 | g.52306111G>C | CA384918949 | KRT81,KRT86 | c.1078G>C (p.Ala360Pro) c.1309G>C (p.Ala437Pro) c.-212+2100C>G (n.-212+2100C>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306111G= | CA2036432447 | KRT81,KRT86 | c.1078G= (p.Ala360=) c.1309G= (p.Ala437=) c.-212+2100C= (n.-212+2100C=) | |
12 | g.52306111G>T | CA384918950 | KRT81,KRT86 | c.1078G>T (p.Ala360Ser) c.1309G>T (p.Ala437Ser) c.-212+2100C>A (n.-212+2100C>A) | |
12 | g.52306112C>A | CA384918951 | KRT81,KRT86 | c.1079C>A (p.Ala360Asp) c.1310C>A (p.Ala437Asp) c.-212+2099G>T (n.-212+2099G>T) | |
12 | g.52306112C= | CA2036432448 | KRT81,KRT86 | c.1079C= (p.Ala360=) c.1310C= (p.Ala437=) c.-212+2099G= (n.-212+2099G=) | |
12 | g.52306112C>G | CA384918952 | KRT81,KRT86 | c.1079C>G (p.Ala360Gly) c.1310C>G (p.Ala437Gly) c.-212+2099G>C (n.-212+2099G>C) | |
12 | g.52306112C>T | CA6577069 | KRT81,KRT86 | c.1079C>T (p.Ala360Val) c.1310C>T (p.Ala437Val) c.-212+2099G>A (n.-212+2099G>A) | dbSNP ExAC gnomAD v2 |
12 | g.52306114del | CA2618905941 | KRT81,KRT86 | c.1081del (p.Leu361SerfsTer25) c.1312del (p.Leu438SerfsTer25) c.-212+2099del (n.-212+2099del) | gnomAD v4 |
12 | g.52306113C>A | CA480065456 | KRT81,KRT86 | c.1080C>A (p.Ala360=) c.1311C>A (p.Ala437=) c.-212+2098G>T (n.-212+2098G>T) | |
12 | g.52306113C= | CA2036432449 | KRT81,KRT86 | c.1080C= (p.Ala360=) c.1311C= (p.Ala437=) c.-212+2098G= (n.-212+2098G=) | |
12 | g.52306113C>G | CA480065455 | KRT81,KRT86 | c.1080C>G (p.Ala360=) c.1311C>G (p.Ala437=) c.-212+2098G>C (n.-212+2098G>C) | |
12 | g.52306113C>T | CA480065454 | KRT81,KRT86 | c.1080C>T (p.Ala360=) c.1311C>T (p.Ala437=) c.-212+2098G>A (n.-212+2098G>A) | dbSNP gnomAD v4 |
12 | g.52306114C>A | CA384918953 | KRT81,KRT86 | c.1081C>A (p.Leu361Ile) c.1312C>A (p.Leu438Ile) c.-212+2097G>T (n.-212+2097G>T) | |
12 | g.52306114C= | CA2036432450 | KRT81,KRT86 | c.1081C= (p.Leu361=) c.1312C= (p.Leu438=) c.-212+2097G= (n.-212+2097G=) | |
12 | g.52306114C>G | CA6577070 | KRT81,KRT86 | c.1081C>G (p.Leu361Val) c.1312C>G (p.Leu438Val) c.-212+2097G>C (n.-212+2097G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.52306114C>T | CA384918954 | KRT81,KRT86 | c.1081C>T (p.Leu361Phe) c.1312C>T (p.Leu438Phe) c.-212+2097G>A (n.-212+2097G>A) | gnomAD v4 |
12 | g.52306115T>A | CA384918955 | KRT81,KRT86 | c.1082T>A (p.Leu361His) c.1313T>A (p.Leu438His) c.-212+2096A>T (n.-212+2096A>T) | |
12 | g.52306115T>C | CA384918956 | KRT81,KRT86 | c.1082T>C (p.Leu361Pro) c.1313T>C (p.Leu438Pro) c.-212+2096A>G (n.-212+2096A>G) | dbSNP |
12 | g.52306115T>G | CA384918957 | KRT81,KRT86 | c.1082T>G (p.Leu361Arg) c.1313T>G (p.Leu438Arg) c.-212+2096A>C (n.-212+2096A>C) | |
12 | g.52306115T= | CA2036432451 | KRT81,KRT86 | c.1082T= (p.Leu361=) c.1313T= (p.Leu438=) c.-212+2096A= (n.-212+2096A=) | |
12 | g.52306116C>A | CA480065460 | KRT81,KRT86 | c.1083C>A (p.Leu361=) c.1314C>A (p.Leu438=) c.-212+2095G>T (n.-212+2095G>T) | dbSNP |
12 | g.52306116C>G | CA480065461 | KRT81,KRT86 | c.1083C>G (p.Leu361=) c.1314C>G (p.Leu438=) c.-212+2095G>C (n.-212+2095G>C) | |
12 | g.52306116C>T | CA480065462 | KRT81,KRT86 | c.1083C>T (p.Leu361=) c.1314C>T (p.Leu438=) c.-212+2095G>A (n.-212+2095G>A) | |
12 | g.52306117A= | CA2036432452 | KRT81,KRT86 | c.1084A= (p.Ser362=) c.1315A= (p.Ser439=) c.-212+2094T= (n.-212+2094T=) | |
12 | g.52306117A>C | CA384918958 | KRT81,KRT86 | c.1084A>C (p.Ser362Arg) c.1315A>C (p.Ser439Arg) c.-212+2094T>G (n.-212+2094T>G) | |
12 | g.52306117A>G | CA384918960 | KRT81,KRT86 | c.1084A>G (p.Ser362Gly) c.1315A>G (p.Ser439Gly) c.-212+2094T>C (n.-212+2094T>C) | |
12 | g.52306117A>T | CA384918959 | KRT81,KRT86 | c.1084A>T (p.Ser362Cys) c.1315A>T (p.Ser439Cys) c.-212+2094T>A (n.-212+2094T>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.52306118G>A | CA384918961 | KRT81,KRT86 | c.1085G>A (p.Ser362Asn) c.1316G>A (p.Ser439Asn) c.-212+2093C>T (n.-212+2093C>T) | |
12 | g.52306118G>C | CA384918963 | KRT81,KRT86 | c.1085G>C (p.Ser362Thr) c.1316G>C (p.Ser439Thr) c.-212+2093C>G (n.-212+2093C>G) | dbSNP |
12 | g.52306118G= | CA2036432453 | KRT81,KRT86 | c.1085G= (p.Ser362=) c.1316G= (p.Ser439=) c.-212+2093C= (n.-212+2093C=) | |
12 | g.52306118G>T | CA384918962 | KRT81,KRT86 | c.1085G>T (p.Ser362Ile) c.1316G>T (p.Ser439Ile) c.-212+2093C>A (n.-212+2093C>A) | COSMIC |
12 | g.52306119C>A | CA384918964 | KRT81,KRT86 | c.1086C>A (p.Ser362Arg) c.1317C>A (p.Ser439Arg) c.-212+2092G>T (n.-212+2092G>T) | dbSNP |
12 | g.52306119C= | CA2036432454 | KRT81,KRT86 | c.1086C= (p.Ser362=) c.1317C= (p.Ser439=) c.-212+2092G= (n.-212+2092G=) | |
12 | g.52306119C>G | CA384918965 | KRT81,KRT86 | c.1086C>G (p.Ser362Arg) c.1317C>G (p.Ser439Arg) c.-212+2092G>C (n.-212+2092G>C) | |
12 | g.52306119C>T | CA6577071 | KRT81,KRT86 | c.1086C>T (p.Ser362=) c.1317C>T (p.Ser439=) c.-212+2092G>A (n.-212+2092G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |