Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.111997301_111997321delinsTGGTCTATTGGTATCTCACCA | CA1279566516 | MERTK | c.1451-22_1451-2delinsTGGTCTATTGGTATCTCACCA (n.1451-22_1451-2delinsTGGTCTATTGGTATCTCACCA) c.923-22_923-2delinsTGGTCTATTGGTATCTCACCA (n.923-22_923-2delinsTGGTCTATTGGTATCTCACCA) c.*924-22_*924-2delinsTGGTCTATTGGTATCTCACCA (n.*924-22_*924-2delinsTGGTCTATTGGTATCTCACCA) c.420-22_420-2delinsTGGTCTATTGGTATCTCACCA (n.420-22_420-2delinsTGGTCTATTGGTATCTCACCA) c.1262-22_1262-2delinsTGGTCTATTGGTATCTCACCA (n.1262-22_1262-2delinsTGGTCTATTGGTATCTCACCA) c.236-22_236-2delinsTGGTCTATTGGTATCTCACCA (n.236-22_236-2delinsTGGTCTATTGGTATCTCACCA) | |
2 | g.111997305_111997324del | CA1831432 | MERTK | c.1451-18_1452del c.923-18_924del c.*924-18_*925del c.420-18_421del c.1262-18_1263del c.236-18_237del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.111997307A= | CA1279566521 | MERTK | c.1451-16A= (n.1451-16A=) c.923-16A= (n.923-16A=) c.*924-16A= (n.*924-16A=) c.420-16A= (n.420-16A=) c.1262-16A= (n.1262-16A=) c.236-16A= (n.236-16A=) | |
2 | g.111997307A>C | CA1035068469 | MERTK | c.1451-16A>C (n.1451-16A>C) c.923-16A>C (n.923-16A>C) c.*924-16A>C (n.*924-16A>C) c.420-16A>C (n.420-16A>C) c.1262-16A>C (n.1262-16A>C) c.236-16A>C (n.236-16A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.111997307A>G | CA1831434 | MERTK | c.1451-16A>G (n.1451-16A>G) c.923-16A>G (n.923-16A>G) c.*924-16A>G (n.*924-16A>G) c.420-16A>G (n.420-16A>G) c.1262-16A>G (n.1262-16A>G) c.236-16A>G (n.236-16A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997307A>T | CA2660689210 | MERTK | c.1451-16A>T (n.1451-16A>T) c.923-16A>T (n.923-16A>T) c.*924-16A>T (n.*924-16A>T) c.420-16A>T (n.420-16A>T) c.1262-16A>T (n.1262-16A>T) c.236-16A>T (n.236-16A>T) | gnomAD v4 |
2 | g.111997308T>A | CA2739770933 | MERTK | c.1451-15T>A (n.1451-15T>A) c.923-15T>A (n.923-15T>A) c.*924-15T>A (n.*924-15T>A) c.420-15T>A (n.420-15T>A) c.1262-15T>A (n.1262-15T>A) c.236-15T>A (n.236-15T>A) | |
2 | g.111997308T>C | CA1035068472 | MERTK | c.1451-15T>C (n.1451-15T>C) c.923-15T>C (n.923-15T>C) c.*924-15T>C (n.*924-15T>C) c.420-15T>C (n.420-15T>C) c.1262-15T>C (n.1262-15T>C) c.236-15T>C (n.236-15T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.111997308T>G | CA2739770934 | MERTK | c.1451-15T>G (n.1451-15T>G) c.923-15T>G (n.923-15T>G) c.*924-15T>G (n.*924-15T>G) c.420-15T>G (n.420-15T>G) c.1262-15T>G (n.1262-15T>G) c.236-15T>G (n.236-15T>G) | |
2 | g.111997308T= | CA1279566522 | MERTK | c.1451-15T= (n.1451-15T=) c.923-15T= (n.923-15T=) c.*924-15T= (n.*924-15T=) c.420-15T= (n.420-15T=) c.1262-15T= (n.1262-15T=) c.236-15T= (n.236-15T=) | |
2 | g.111997309T>C | CA2739770935 | MERTK | c.1451-14T>C (n.1451-14T>C) c.923-14T>C (n.923-14T>C) c.*924-14T>C (n.*924-14T>C) c.420-14T>C (n.420-14T>C) c.1262-14T>C (n.1262-14T>C) c.236-14T>C (n.236-14T>C) | |
2 | g.111997309T>G | CA2739770936 | MERTK | c.1451-14T>G (n.1451-14T>G) c.923-14T>G (n.923-14T>G) c.*924-14T>G (n.*924-14T>G) c.420-14T>G (n.420-14T>G) c.1262-14T>G (n.1262-14T>G) c.236-14T>G (n.236-14T>G) | |
2 | g.111997310G>C | CA2739770937 | MERTK | c.1451-13G>C (n.1451-13G>C) c.923-13G>C (n.923-13G>C) c.*924-13G>C (n.*924-13G>C) c.420-13G>C (n.420-13G>C) c.1262-13G>C (n.1262-13G>C) c.236-13G>C (n.236-13G>C) | |
2 | g.111997310G>T | CA2739770938 | MERTK | c.1451-13G>T (n.1451-13G>T) c.923-13G>T (n.923-13G>T) c.*924-13G>T (n.*924-13G>T) c.420-13G>T (n.420-13G>T) c.1262-13G>T (n.1262-13G>T) c.236-13G>T (n.236-13G>T) | |
2 | g.111997311G>A | CA2739770939 | MERTK | c.1451-12G>A (n.1451-12G>A) c.923-12G>A (n.923-12G>A) c.*924-12G>A (n.*924-12G>A) c.420-12G>A (n.420-12G>A) c.1262-12G>A (n.1262-12G>A) c.236-12G>A (n.236-12G>A) | |
2 | g.111997311G>C | CA2739770940 | MERTK | c.1451-12G>C (n.1451-12G>C) c.923-12G>C (n.923-12G>C) c.*924-12G>C (n.*924-12G>C) c.420-12G>C (n.420-12G>C) c.1262-12G>C (n.1262-12G>C) c.236-12G>C (n.236-12G>C) | |
2 | g.111997311G>T | CA2739770941 | MERTK | c.1451-12G>T (n.1451-12G>T) c.923-12G>T (n.923-12G>T) c.*924-12G>T (n.*924-12G>T) c.420-12G>T (n.420-12G>T) c.1262-12G>T (n.1262-12G>T) c.236-12G>T (n.236-12G>T) | |
2 | g.111997312T>A | CA2739770943 | MERTK | c.1451-11T>A (n.1451-11T>A) c.923-11T>A (n.923-11T>A) c.*924-11T>A (n.*924-11T>A) c.420-11T>A (n.420-11T>A) c.1262-11T>A (n.1262-11T>A) c.236-11T>A (n.236-11T>A) | |
2 | g.111997312T>C | CA2739770942 | MERTK | c.1451-11T>C (n.1451-11T>C) c.923-11T>C (n.923-11T>C) c.*924-11T>C (n.*924-11T>C) c.420-11T>C (n.420-11T>C) c.1262-11T>C (n.1262-11T>C) c.236-11T>C (n.236-11T>C) | |
2 | g.111997312T>G | CA1831435 | MERTK | c.1451-11T>G (n.1451-11T>G) c.923-11T>G (n.923-11T>G) c.*924-11T>G (n.*924-11T>G) c.420-11T>G (n.420-11T>G) c.1262-11T>G (n.1262-11T>G) c.236-11T>G (n.236-11T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.111997312T= | CA1279566523 | MERTK | c.1451-11T= (n.1451-11T=) c.923-11T= (n.923-11T=) c.*924-11T= (n.*924-11T=) c.420-11T= (n.420-11T=) c.1262-11T= (n.1262-11T=) c.236-11T= (n.236-11T=) | |
2 | g.111997314T>A | CA2739770944 | MERTK | c.1451-9T>A (n.1451-9T>A) c.923-9T>A (n.923-9T>A) c.*924-9T>A (n.*924-9T>A) c.420-9T>A (n.420-9T>A) c.1262-9T>A (n.1262-9T>A) c.236-9T>A (n.236-9T>A) | |
2 | g.111997314T>C | CA2739770945 | MERTK | c.1451-9T>C (n.1451-9T>C) c.923-9T>C (n.923-9T>C) c.*924-9T>C (n.*924-9T>C) c.420-9T>C (n.420-9T>C) c.1262-9T>C (n.1262-9T>C) c.236-9T>C (n.236-9T>C) | |
2 | g.111997314T>G | CA2739770946 | MERTK | c.1451-9T>G (n.1451-9T>G) c.923-9T>G (n.923-9T>G) c.*924-9T>G (n.*924-9T>G) c.420-9T>G (n.420-9T>G) c.1262-9T>G (n.1262-9T>G) c.236-9T>G (n.236-9T>G) | |
2 | g.111997315C>A | CA2739770947 | MERTK | c.1451-8C>A (n.1451-8C>A) c.923-8C>A (n.923-8C>A) c.*924-8C>A (n.*924-8C>A) c.420-8C>A (n.420-8C>A) c.1262-8C>A (n.1262-8C>A) c.236-8C>A (n.236-8C>A) | |
2 | g.111997315C>G | CA2739770948 | MERTK | c.1451-8C>G (n.1451-8C>G) c.923-8C>G (n.923-8C>G) c.*924-8C>G (n.*924-8C>G) c.420-8C>G (n.420-8C>G) c.1262-8C>G (n.1262-8C>G) c.236-8C>G (n.236-8C>G) | |
2 | g.111997315C>T | CA2700183387 | MERTK | c.1451-8C>T (n.1451-8C>T) c.923-8C>T (n.923-8C>T) c.*924-8C>T (n.*924-8C>T) c.420-8C>T (n.420-8C>T) c.1262-8C>T (n.1262-8C>T) c.236-8C>T (n.236-8C>T) | dbSNP |
2 | g.111997316T>C | CA1279566525 | MERTK | c.1451-7T>C (n.1451-7T>C) c.923-7T>C (n.923-7T>C) c.*924-7T>C (n.*924-7T>C) c.420-7T>C (n.420-7T>C) c.1262-7T>C (n.1262-7T>C) c.236-7T>C (n.236-7T>C) | dbSNP gnomAD v4 |
2 | g.111997316T= | CA1279566524 | MERTK | c.1451-7T= (n.1451-7T=) c.923-7T= (n.923-7T=) c.*924-7T= (n.*924-7T=) c.420-7T= (n.420-7T=) c.1262-7T= (n.1262-7T=) c.236-7T= (n.236-7T=) | |
2 | g.111997317C= | CA1279566526 | MERTK | c.1451-6C= (n.1451-6C=) c.923-6C= (n.923-6C=) c.*924-6C= (n.*924-6C=) c.420-6C= (n.420-6C=) c.1262-6C= (n.1262-6C=) c.236-6C= (n.236-6C=) | |
2 | g.111997317C>T | CA1831436 | MERTK | c.1451-6C>T (n.1451-6C>T) c.923-6C>T (n.923-6C>T) c.*924-6C>T (n.*924-6C>T) c.420-6C>T (n.420-6C>T) c.1262-6C>T (n.1262-6C>T) c.236-6C>T (n.236-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.111997318A>C | CA2660689211 | MERTK | c.1451-5A>C (n.1451-5A>C) c.923-5A>C (n.923-5A>C) c.*924-5A>C (n.*924-5A>C) c.420-5A>C (n.420-5A>C) c.1262-5A>C (n.1262-5A>C) c.236-5A>C (n.236-5A>C) | gnomAD v4 |
2 | g.111997318A>G | CA2739770949 | MERTK | c.1451-5A>G (n.1451-5A>G) c.923-5A>G (n.923-5A>G) c.*924-5A>G (n.*924-5A>G) c.420-5A>G (n.420-5A>G) c.1262-5A>G (n.1262-5A>G) c.236-5A>G (n.236-5A>G) | |
2 | g.111997318A>T | CA2739770950 | MERTK | c.1451-5A>T (n.1451-5A>T) c.923-5A>T (n.923-5A>T) c.*924-5A>T (n.*924-5A>T) c.420-5A>T (n.420-5A>T) c.1262-5A>T (n.1262-5A>T) c.236-5A>T (n.236-5A>T) | |
2 | g.111997319C>A | CA1831437 | MERTK | c.1451-4C>A (n.1451-4C>A) c.923-4C>A (n.923-4C>A) c.*924-4C>A (n.*924-4C>A) c.420-4C>A (n.420-4C>A) c.1262-4C>A (n.1262-4C>A) c.236-4C>A (n.236-4C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.111997319C= | CA1279566527 | MERTK | c.1451-4C= (n.1451-4C=) c.923-4C= (n.923-4C=) c.*924-4C= (n.*924-4C=) c.420-4C= (n.420-4C=) c.1262-4C= (n.1262-4C=) c.236-4C= (n.236-4C=) | |
2 | g.111997319C>G | CA2739770951 | MERTK | c.1451-4C>G (n.1451-4C>G) c.923-4C>G (n.923-4C>G) c.*924-4C>G (n.*924-4C>G) c.420-4C>G (n.420-4C>G) c.1262-4C>G (n.1262-4C>G) c.236-4C>G (n.236-4C>G) | |
2 | g.111997319C>T | CA2739770952 | MERTK | c.1451-4C>T (n.1451-4C>T) c.923-4C>T (n.923-4C>T) c.*924-4C>T (n.*924-4C>T) c.420-4C>T (n.420-4C>T) c.1262-4C>T (n.1262-4C>T) c.236-4C>T (n.236-4C>T) | |
2 | g.111997320C= | CA1279566528 | MERTK | c.1451-3C= (n.1451-3C=) c.923-3C= (n.923-3C=) c.*924-3C= (n.*924-3C=) c.420-3C= (n.420-3C=) c.1262-3C= (n.1262-3C=) c.236-3C= (n.236-3C=) | |
2 | g.111997320C>G | CA1279566529 | MERTK | c.1451-3C>G (n.1451-3C>G) c.923-3C>G (n.923-3C>G) c.*924-3C>G (n.*924-3C>G) c.420-3C>G (n.420-3C>G) c.1262-3C>G (n.1262-3C>G) c.236-3C>G (n.236-3C>G) | dbSNP |
2 | g.111997320C>T | CA2660689212 | MERTK | c.1451-3C>T (n.1451-3C>T) c.923-3C>T (n.923-3C>T) c.*924-3C>T (n.*924-3C>T) c.420-3C>T (n.420-3C>T) c.1262-3C>T (n.1262-3C>T) c.236-3C>T (n.236-3C>T) | gnomAD v4 |
2 | g.111997321A>C | CA348230889 | MERTK | c.1451-2A>C (n.1451-2A>C) c.923-2A>C (n.923-2A>C) c.*924-2A>C (n.*924-2A>C) c.420-2A>C (n.420-2A>C) c.1262-2A>C (n.1262-2A>C) c.236-2A>C (n.236-2A>C) | |
2 | g.111997321A>G | CA348230890 | MERTK | c.1451-2A>G (n.1451-2A>G) c.923-2A>G (n.923-2A>G) c.*924-2A>G (n.*924-2A>G) c.420-2A>G (n.420-2A>G) c.1262-2A>G (n.1262-2A>G) c.236-2A>G (n.236-2A>G) | |
2 | g.111997321A>T | CA348230891 | MERTK | c.1451-2A>T (n.1451-2A>T) c.923-2A>T (n.923-2A>T) c.*924-2A>T (n.*924-2A>T) c.420-2A>T (n.420-2A>T) c.1262-2A>T (n.1262-2A>T) c.236-2A>T (n.236-2A>T) | |
2 | g.111997322G>A | CA348230893 | MERTK | c.1451-1G>A (n.1451-1G>A) c.923-1G>A (n.923-1G>A) c.*924-1G>A (n.*924-1G>A) c.420-1G>A (n.420-1G>A) c.1262-1G>A (n.1262-1G>A) c.236-1G>A (n.236-1G>A) | |
2 | g.111997322G>C | CA348230895 | MERTK | c.1451-1G>C (n.1451-1G>C) c.923-1G>C (n.923-1G>C) c.*924-1G>C (n.*924-1G>C) c.420-1G>C (n.420-1G>C) c.1262-1G>C (n.1262-1G>C) c.236-1G>C (n.236-1G>C) | |
2 | g.111997322G>T | CA348230897 | MERTK | c.1451-1G>T (n.1451-1G>T) c.923-1G>T (n.923-1G>T) c.*924-1G>T (n.*924-1G>T) c.420-1G>T (n.420-1G>T) c.1262-1G>T (n.1262-1G>T) c.236-1G>T (n.236-1G>T) | |
2 | g.111997323G>A | CA348230899 | MERTK | c.1451G>A (p.Gly484Asp) c.923G>A (p.Gly308Asp) c.*924G>A (n.*924G>A) c.420G>A (p.Lys140=) c.1262G>A (p.Gly421Asp) c.236G>A (p.Gly79Asp) | gnomAD v4 |
2 | g.111997323G>C | CA348230901 | MERTK | c.1451G>C (p.Gly484Ala) c.923G>C (p.Gly308Ala) c.*924G>C (n.*924G>C) c.420G>C (p.Lys140Asn) c.1262G>C (p.Gly421Ala) c.236G>C (p.Gly79Ala) | |
2 | g.111997323G= | CA1279566530 | MERTK | c.1451G= (p.Gly484=) c.923G= (p.Gly308=) c.*924G= (n.*924G=) c.420G= (p.Lys140=) c.1262G= (p.Gly421=) c.236G= (p.Gly79=) | |
2 | g.111997323G>T | CA348230903 | MERTK | c.1451G>T (p.Gly484Val) c.923G>T (p.Gly308Val) c.*924G>T (n.*924G>T) c.420G>T (p.Lys140Asn) c.1262G>T (p.Gly421Val) c.236G>T (p.Gly79Val) | dbSNP |
2 | g.111997324T>A | CA348230906 | MERTK | c.1452T>A (p.Gly484=) c.924T>A (p.Gly308=) c.*925T>A (n.*925T>A) c.421T>A (p.Leu141Met) c.1263T>A (p.Gly421=) c.237T>A (p.Gly79=) | |
2 | g.111997324T>C | CA428274237 | MERTK | c.1452T>C (p.Gly484=) c.924T>C (p.Gly308=) c.*925T>C (n.*925T>C) c.421T>C (p.Leu141=) c.1263T>C (p.Gly421=) c.237T>C (p.Gly79=) | gnomAD v4 |
2 | g.111997324T>G | CA348230907 | MERTK | c.1452T>G (p.Gly484=) c.924T>G (p.Gly308=) c.*925T>G (n.*925T>G) c.421T>G (p.Leu141Val) c.1263T>G (p.Gly421=) c.237T>G (p.Gly79=) | |
2 | g.111997325T>A | CA348230911 | MERTK | c.1453T>A (p.Trp485Arg) c.925T>A (p.Trp309Arg) c.*926T>A (n.*926T>A) c.422T>A (p.Leu141Ter) c.1264T>A (p.Trp422Arg) c.238T>A (p.Trp80Arg) | |
2 | g.111997325T>C | CA348230913 | MERTK | c.1453T>C (p.Trp485Arg) c.925T>C (p.Trp309Arg) c.*926T>C (n.*926T>C) c.422T>C (p.Leu141Ser) c.1264T>C (p.Trp422Arg) c.238T>C (p.Trp80Arg) | |
2 | g.111997325T>G | CA348230909 | MERTK | c.1453T>G (p.Trp485Gly) c.925T>G (p.Trp309Gly) c.*926T>G (n.*926T>G) c.422T>G (p.Leu141Trp) c.1264T>G (p.Trp422Gly) c.238T>G (p.Trp80Gly) | |
2 | g.111997326G>A | CA348230918 | MERTK | c.1454G>A (p.Trp485Ter) c.926G>A (p.Trp309Ter) c.*927G>A (n.*927G>A) c.423G>A (p.Leu141=) c.1265G>A (p.Trp422Ter) c.239G>A (p.Trp80Ter) | gnomAD v4 |
2 | g.111997326G>C | CA348230915 | MERTK | c.1454G>C (p.Trp485Ser) c.926G>C (p.Trp309Ser) c.*927G>C (n.*927G>C) c.423G>C (p.Leu141Phe) c.1265G>C (p.Trp422Ser) c.239G>C (p.Trp80Ser) | COSMIC |
2 | g.111997326G>T | CA348230916 | MERTK | c.1454G>T (p.Trp485Leu) c.926G>T (p.Trp309Leu) c.*927G>T (n.*927G>T) c.423G>T (p.Leu141Phe) c.1265G>T (p.Trp422Leu) c.239G>T (p.Trp80Leu) | |
2 | g.111997327G>A | CA348230920 | MERTK | c.1455G>A (p.Trp485Ter) c.927G>A (p.Trp309Ter) c.*928G>A (n.*928G>A) c.424G>A (p.Gly142Ser) c.1266G>A (p.Trp422Ter) c.240G>A (p.Trp80Ter) | |
2 | g.111997327G>C | CA348230922 | MERTK | c.1455G>C (p.Trp485Cys) c.927G>C (p.Trp309Cys) c.*928G>C (n.*928G>C) c.424G>C (p.Gly142Arg) c.1266G>C (p.Trp422Cys) c.240G>C (p.Trp80Cys) | |
2 | g.111997327G>T | CA348230924 | MERTK | c.1455G>T (p.Trp485Cys) c.927G>T (p.Trp309Cys) c.*928G>T (n.*928G>T) c.424G>T (p.Gly142Cys) c.1266G>T (p.Trp422Cys) c.240G>T (p.Trp80Cys) | COSMIC |
2 | g.111997328G>A | CA348230926 | MERTK | c.1456G>A (p.Val486Ile) c.928G>A (p.Val310Ile) c.*929G>A (n.*929G>A) c.425G>A (p.Gly142Asp) c.1267G>A (p.Val423Ile) c.241G>A (p.Val81Ile) | COSMIC |
2 | g.111997328G>C | CA348230928 | MERTK | c.1456G>C (p.Val486Leu) c.928G>C (p.Val310Leu) c.*929G>C (n.*929G>C) c.425G>C (p.Gly142Ala) c.1267G>C (p.Val423Leu) c.241G>C (p.Val81Leu) | |
2 | g.111997328G>T | CA348230930 | MERTK | c.1456G>T (p.Val486Leu) c.928G>T (p.Val310Leu) c.*929G>T (n.*929G>T) c.425G>T (p.Gly142Val) c.1267G>T (p.Val423Leu) c.241G>T (p.Val81Leu) | |
2 | g.111997329T>A | CA348230932 | MERTK | c.1457T>A (p.Val486Glu) c.929T>A (p.Val310Glu) c.*930T>A (n.*930T>A) c.426T>A (p.Gly142=) c.1268T>A (p.Val423Glu) c.242T>A (p.Val81Glu) | |
2 | g.111997329T>C | CA348230934 | MERTK | c.1457T>C (p.Val486Ala) c.929T>C (p.Val310Ala) c.*930T>C (n.*930T>C) c.426T>C (p.Gly142=) c.1268T>C (p.Val423Ala) c.242T>C (p.Val81Ala) | |
2 | g.111997329T>G | CA348230935 | MERTK | c.1457T>G (p.Val486Gly) c.929T>G (p.Val310Gly) c.*930T>G (n.*930T>G) c.426T>G (p.Gly142=) c.1268T>G (p.Val423Gly) c.242T>G (p.Val81Gly) | |
2 | g.111997330A>C | CA428274244 | MERTK | c.1458A>C (p.Val486=) c.930A>C (p.Val310=) c.*931A>C (n.*931A>C) c.427A>C (p.Arg143=) c.1269A>C (p.Val423=) c.243A>C (p.Val81=) | |
2 | g.111997330A>G | CA348230937 | MERTK | c.1458A>G (p.Val486=) c.930A>G (p.Val310=) c.*931A>G (n.*931A>G) c.427A>G (p.Arg143Gly) c.1269A>G (p.Val423=) c.243A>G (p.Val81=) | |
2 | g.111997330A>T | CA348230939 | MERTK | c.1458A>T (p.Val486=) c.930A>T (p.Val310=) c.*931A>T (n.*931A>T) c.427A>T (p.Arg143Ter) c.1269A>T (p.Val423=) c.243A>T (p.Val81=) | |
2 | g.111997331_111997332del | CA2586969801 | MERTK | c.1459_1460del (p.Asp487LeufsTer?) c.931_932del (p.Asp311LeufsTer?) c.*932_*933del (n.*932_*933del) c.428_429del (p.Arg143IlefsTer?) c.1270_1271del (p.Asp424LeufsTer?) c.244_245del (p.Asp82LeufsTer?) | |
2 | g.111997331G>A | CA348230941 | MERTK | c.1459G>A (p.Asp487Asn) c.931G>A (p.Asp311Asn) c.*932G>A (n.*932G>A) c.428G>A (p.Arg143Lys) c.1270G>A (p.Asp424Asn) c.244G>A (p.Asp82Asn) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.111997331G>C | CA348230946 | MERTK | c.1459G>C (p.Asp487His) c.931G>C (p.Asp311His) c.*932G>C (n.*932G>C) c.428G>C (p.Arg143Thr) c.1270G>C (p.Asp424His) c.244G>C (p.Asp82His) | |
2 | g.111997331G= | CA1279566531 | MERTK | c.1459G= (p.Asp487=) c.931G= (p.Asp311=) c.*932G= (n.*932G=) c.428G= (p.Arg143=) c.1270G= (p.Asp424=) c.244G= (p.Asp82=) | |
2 | g.111997331G>T | CA348230943 | MERTK | c.1459G>T (p.Asp487Tyr) c.931G>T (p.Asp311Tyr) c.*932G>T (n.*932G>T) c.428G>T (p.Arg143Ile) c.1270G>T (p.Asp424Tyr) c.244G>T (p.Asp82Tyr) | COSMIC |
2 | g.111997332A>C | CA348230960 | MERTK | c.1460A>C (p.Asp487Ala) c.932A>C (p.Asp311Ala) c.*933A>C (n.*933A>C) c.429A>C (p.Arg143Ser) c.1271A>C (p.Asp424Ala) c.245A>C (p.Asp82Ala) | |
2 | g.111997332A>G | CA348230962 | MERTK | c.1460A>G (p.Asp487Gly) c.932A>G (p.Asp311Gly) c.*933A>G (n.*933A>G) c.429A>G (p.Arg143=) c.1271A>G (p.Asp424Gly) c.245A>G (p.Asp82Gly) | |
2 | g.111997332A>T | CA348230965 | MERTK | c.1460A>T (p.Asp487Val) c.932A>T (p.Asp311Val) c.*933A>T (n.*933A>T) c.429A>T (p.Arg143Ser) c.1271A>T (p.Asp424Val) c.245A>T (p.Asp82Val) | |
2 | g.111997333T>A | CA348230967 | MERTK | c.1461T>A (p.Asp487Glu) c.933T>A (p.Asp311Glu) c.*934T>A (n.*934T>A) c.430T>A (p.Leu144Ile) c.1272T>A (p.Asp424Glu) c.246T>A (p.Asp82Glu) | |
2 | g.111997333T>C | CA428274246 | MERTK | c.1461T>C (p.Asp487=) c.933T>C (p.Asp311=) c.*934T>C (n.*934T>C) c.430T>C (p.Leu144=) c.1272T>C (p.Asp424=) c.246T>C (p.Asp82=) | |
2 | g.111997333T>G | CA348230968 | MERTK | c.1461T>G (p.Asp487Glu) c.933T>G (p.Asp311Glu) c.*934T>G (n.*934T>G) c.430T>G (p.Leu144Val) c.1272T>G (p.Asp424Glu) c.246T>G (p.Asp82Glu) | |
2 | g.111997334del | CA2577070492 | MERTK | c.1462del (p.Tyr488MetfsTer27) c.934del (p.Tyr312MetfsTer27) c.*935del (n.*935del) c.431del (p.Leu144TyrfsTer26) c.1273del (p.Tyr425MetfsTer27) c.247del (p.Tyr83MetfsTer27) | |
2 | g.111997334T>A | CA348230972 | MERTK | c.1462T>A (p.Tyr488Asn) c.934T>A (p.Tyr312Asn) c.*935T>A (n.*935T>A) c.431T>A (p.Leu144Ter) c.1273T>A (p.Tyr425Asn) c.247T>A (p.Tyr83Asn) | |
2 | g.111997334T>C | CA348230973 | MERTK | c.1462T>C (p.Tyr488His) c.934T>C (p.Tyr312His) c.*935T>C (n.*935T>C) c.431T>C (p.Leu144Ser) c.1273T>C (p.Tyr425His) c.247T>C (p.Tyr83His) | |
2 | g.111997334T>G | CA348230976 | MERTK | c.1462T>G (p.Tyr488Asp) c.934T>G (p.Tyr312Asp) c.*935T>G (n.*935T>G) c.431T>G (p.Leu144Ter) c.1273T>G (p.Tyr425Asp) c.247T>G (p.Tyr83Asp) | |
2 | g.111997335A>C | CA348230978 | MERTK | c.1463A>C (p.Tyr488Ser) c.935A>C (p.Tyr312Ser) c.*936A>C (n.*936A>C) c.432A>C (p.Leu144Phe) c.1274A>C (p.Tyr425Ser) c.248A>C (p.Tyr83Ser) | |
2 | g.111997335A>G | CA348230981 | MERTK | c.1463A>G (p.Tyr488Cys) c.935A>G (p.Tyr312Cys) c.*936A>G (n.*936A>G) c.432A>G (p.Leu144=) c.1274A>G (p.Tyr425Cys) c.248A>G (p.Tyr83Cys) | gnomAD v4 |
2 | g.111997335A>T | CA348230983 | MERTK | c.1463A>T (p.Tyr488Phe) c.935A>T (p.Tyr312Phe) c.*936A>T (n.*936A>T) c.432A>T (p.Leu144Phe) c.1274A>T (p.Tyr425Phe) c.248A>T (p.Tyr83Phe) | |
2 | g.111997336T>A | CA348230990 | MERTK | c.1464T>A (p.Tyr488Ter) c.936T>A (p.Tyr312Ter) c.*937T>A (n.*937T>A) c.433T>A (p.Cys145Ser) c.1275T>A (p.Tyr425Ter) c.249T>A (p.Tyr83Ter) | |
2 | g.111997336T>C | CA348230987 | MERTK | c.1464T>C (p.Tyr488=) c.936T>C (p.Tyr312=) c.*937T>C (n.*937T>C) c.433T>C (p.Cys145Arg) c.1275T>C (p.Tyr425=) c.249T>C (p.Tyr83=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.111997336T>G | CA348230985 | MERTK | c.1464T>G (p.Tyr488Ter) c.936T>G (p.Tyr312Ter) c.*937T>G (n.*937T>G) c.433T>G (p.Cys145Gly) c.1275T>G (p.Tyr425Ter) c.249T>G (p.Tyr83Ter) | |
2 | g.111997336T= | CA1279566532 | MERTK | c.1464T= (p.Tyr488=) c.936T= (p.Tyr312=) c.*937T= (n.*937T=) c.433T= (p.Cys145=) c.1275T= (p.Tyr425=) c.249T= (p.Tyr83=) | |
2 | g.111997337G>A | CA348230996 | MERTK | c.1465G>A (p.Ala489Thr) c.937G>A (p.Ala313Thr) c.*938G>A (n.*938G>A) c.434G>A (p.Cys145Tyr) c.1276G>A (p.Ala426Thr) c.250G>A (p.Ala84Thr) | gnomAD v4 |
2 | g.111997337G>C | CA348230993 | MERTK | c.1465G>C (p.Ala489Pro) c.937G>C (p.Ala313Pro) c.*938G>C (n.*938G>C) c.434G>C (p.Cys145Ser) c.1276G>C (p.Ala426Pro) c.250G>C (p.Ala84Pro) | |
2 | g.111997337G= | CA1279566533 | MERTK | c.1465G= (p.Ala489=) c.937G= (p.Ala313=) c.*938G= (n.*938G=) c.434G= (p.Cys145=) c.1276G= (p.Ala426=) c.250G= (p.Ala84=) | |
2 | g.111997337G>T | CA1831438 | MERTK | c.1465G>T (p.Ala489Ser) c.937G>T (p.Ala313Ser) c.*938G>T (n.*938G>T) c.434G>T (p.Cys145Phe) c.1276G>T (p.Ala426Ser) c.250G>T (p.Ala84Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.111997338C>A | CA348230998 | MERTK | c.1466C>A (p.Ala489Asp) c.938C>A (p.Ala313Asp) c.*939C>A (n.*939C>A) c.435C>A (p.Cys145Ter) c.1277C>A (p.Ala426Asp) c.251C>A (p.Ala84Asp) | |
2 | g.111997338C= | CA1279566534 | MERTK | c.1466C= (p.Ala489=) c.938C= (p.Ala313=) c.*939C= (n.*939C=) c.435C= (p.Cys145=) c.1277C= (p.Ala426=) c.251C= (p.Ala84=) | |
2 | g.111997338C>G | CA348231000 | MERTK | c.1466C>G (p.Ala489Gly) c.938C>G (p.Ala313Gly) c.*939C>G (n.*939C>G) c.435C>G (p.Cys145Trp) c.1277C>G (p.Ala426Gly) c.251C>G (p.Ala84Gly) | |
2 | g.111997338C>T | CA53574341 | MERTK | c.1466C>T (p.Ala489Val) c.938C>T (p.Ala313Val) c.*939C>T (n.*939C>T) c.435C>T (p.Cys145=) c.1277C>T (p.Ala426Val) c.251C>T (p.Ala84Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.111997342del | CA2837994717 | MERTK | c.1470del (p.Ser491LeufsTer24) c.942del (p.Ser315LeufsTer24) c.*943del (n.*943del) c.439del (p.Leu147SerfsTer23) c.1281del (p.Ser428LeufsTer24) c.255del (p.Ser86LeufsTer24) | |
2 | g.111997339C>A | CA348231007 | MERTK | c.1467C>A (p.Ala489=) c.939C>A (p.Ala313=) c.*940C>A (n.*940C>A) c.436C>A (p.Pro146Thr) c.1278C>A (p.Ala426=) c.252C>A (p.Ala84=) | |
2 | g.111997339C>G | CA348231005 | MERTK | c.1467C>G (p.Ala489=) c.939C>G (p.Ala313=) c.*940C>G (n.*940C>G) c.436C>G (p.Pro146Ala) c.1278C>G (p.Ala426=) c.252C>G (p.Ala84=) | |
2 | g.111997339C>T | CA348231003 | MERTK | c.1467C>T (p.Ala489=) c.939C>T (p.Ala313=) c.*940C>T (n.*940C>T) c.436C>T (p.Pro146Ser) c.1278C>T (p.Ala426=) c.252C>T (p.Ala84=) | |
2 | g.111997340C>A | CA348231011 | MERTK | c.1468C>A (p.Pro490Thr) c.940C>A (p.Pro314Thr) c.*941C>A (n.*941C>A) c.437C>A (p.Pro146His) c.1279C>A (p.Pro427Thr) c.253C>A (p.Pro85Thr) | |
2 | g.111997340C>G | CA348231013 | MERTK | c.1468C>G (p.Pro490Ala) c.940C>G (p.Pro314Ala) c.*941C>G (n.*941C>G) c.437C>G (p.Pro146Arg) c.1279C>G (p.Pro427Ala) c.253C>G (p.Pro85Ala) | |
2 | g.111997340C>T | CA348231014 | MERTK | c.1468C>T (p.Pro490Ser) c.940C>T (p.Pro314Ser) c.*941C>T (n.*941C>T) c.437C>T (p.Pro146Leu) c.1279C>T (p.Pro427Ser) c.253C>T (p.Pro85Ser) | |
2 | g.111997341C>A | CA348231016 | MERTK | c.1469C>A (p.Pro490His) c.941C>A (p.Pro314His) c.*942C>A (n.*942C>A) c.438C>A (p.Pro146=) c.1280C>A (p.Pro427His) c.254C>A (p.Pro85His) | |
2 | g.111997341C= | CA1279566535 | MERTK | c.1469C= (p.Pro490=) c.941C= (p.Pro314=) c.*942C= (n.*942C=) c.438C= (p.Pro146=) c.1280C= (p.Pro427=) c.254C= (p.Pro85=) | |
2 | g.111997341C>G | CA348231019 | MERTK | c.1469C>G (p.Pro490Arg) c.941C>G (p.Pro314Arg) c.*942C>G (n.*942C>G) c.438C>G (p.Pro146=) c.1280C>G (p.Pro427Arg) c.254C>G (p.Pro85Arg) | |
2 | g.111997341C>T | CA348231021 | MERTK | c.1469C>T (p.Pro490Leu) c.941C>T (p.Pro314Leu) c.*942C>T (n.*942C>T) c.438C>T (p.Pro146=) c.1280C>T (p.Pro427Leu) c.254C>T (p.Pro85Leu) | ClinVar dbSNP |
2 | g.111997342C>A | CA348231024 | MERTK | c.1470C>A (p.Pro490=) c.942C>A (p.Pro314=) c.*943C>A (n.*943C>A) c.439C>A (p.Leu147Ile) c.1281C>A (p.Pro427=) c.255C>A (p.Pro85=) | |
2 | g.111997342C>G | CA348231028 | MERTK | c.1470C>G (p.Pro490=) c.942C>G (p.Pro314=) c.*943C>G (n.*943C>G) c.439C>G (p.Leu147Val) c.1281C>G (p.Pro427=) c.255C>G (p.Pro85=) | |
2 | g.111997342C>T | CA348231025 | MERTK | c.1470C>T (p.Pro490=) c.942C>T (p.Pro314=) c.*943C>T (n.*943C>T) c.439C>T (p.Leu147Phe) c.1281C>T (p.Pro427=) c.255C>T (p.Pro85=) | gnomAD v4 |
2 | g.111997343T>A | CA53574342 | MERTK | c.1471T>A (p.Ser491Thr) c.943T>A (p.Ser315Thr) c.*944T>A (n.*944T>A) c.440T>A (p.Leu147His) c.1282T>A (p.Ser428Thr) c.256T>A (p.Ser86Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.111997343T>C | CA348231032 | MERTK | c.1471T>C (p.Ser491Pro) c.943T>C (p.Ser315Pro) c.*944T>C (n.*944T>C) c.440T>C (p.Leu147Pro) c.1282T>C (p.Ser428Pro) c.256T>C (p.Ser86Pro) | |
2 | g.111997343T>G | CA348231034 | MERTK | c.1471T>G (p.Ser491Ala) c.943T>G (p.Ser315Ala) c.*944T>G (n.*944T>G) c.440T>G (p.Leu147Arg) c.1282T>G (p.Ser428Ala) c.256T>G (p.Ser86Ala) | |
2 | g.111997343T= | CA1279566536 | MERTK | c.1471T= (p.Ser491=) c.943T= (p.Ser315=) c.*944T= (n.*944T=) c.440T= (p.Leu147=) c.1282T= (p.Ser428=) c.256T= (p.Ser86=) | |
2 | g.111997344C>A | CA348231037 | MERTK | c.1472C>A (p.Ser491Tyr) c.944C>A (p.Ser315Tyr) c.*945C>A (n.*945C>A) c.441C>A (p.Leu147=) c.1283C>A (p.Ser428Tyr) c.257C>A (p.Ser86Tyr) | |
2 | g.111997344C>G | CA348231039 | MERTK | c.1472C>G (p.Ser491Cys) c.944C>G (p.Ser315Cys) c.*945C>G (n.*945C>G) c.441C>G (p.Leu147=) c.1283C>G (p.Ser428Cys) c.257C>G (p.Ser86Cys) | |
2 | g.111997344C>T | CA348231042 | MERTK | c.1472C>T (p.Ser491Phe) c.944C>T (p.Ser315Phe) c.*945C>T (n.*945C>T) c.441C>T (p.Leu147=) c.1283C>T (p.Ser428Phe) c.257C>T (p.Ser86Phe) | |
2 | g.111997345T>A | CA348231044 | MERTK | c.1473T>A (p.Ser491=) c.945T>A (p.Ser315=) c.*946T>A (n.*946T>A) c.442T>A (p.Phe148Ile) c.1284T>A (p.Ser428=) c.258T>A (p.Ser86=) | ClinVar dbSNP gnomAD v4 |
2 | g.111997345T>C | CA348231046 | MERTK | c.1473T>C (p.Ser491=) c.945T>C (p.Ser315=) c.*946T>C (n.*946T>C) c.442T>C (p.Phe148Leu) c.1284T>C (p.Ser428=) c.258T>C (p.Ser86=) | |
2 | g.111997345T>G | CA348231049 | MERTK | c.1473T>G (p.Ser491=) c.945T>G (p.Ser315=) c.*946T>G (n.*946T>G) c.442T>G (p.Phe148Val) c.1284T>G (p.Ser428=) c.258T>G (p.Ser86=) | |
2 | g.111997346T>A | CA348231050 | MERTK | c.1474T>A (p.Ser492Thr) c.946T>A (p.Ser316Thr) c.*947T>A (n.*947T>A) c.443T>A (p.Phe148Tyr) c.1285T>A (p.Ser429Thr) c.259T>A (p.Ser87Thr) | |
2 | g.111997346T>C | CA348231052 | MERTK | c.1474T>C (p.Ser492Pro) c.946T>C (p.Ser316Pro) c.*947T>C (n.*947T>C) c.443T>C (p.Phe148Ser) c.1285T>C (p.Ser429Pro) c.259T>C (p.Ser87Pro) | |
2 | g.111997346T>G | CA348231054 | MERTK | c.1474T>G (p.Ser492Ala) c.946T>G (p.Ser316Ala) c.*947T>G (n.*947T>G) c.443T>G (p.Phe148Cys) c.1285T>G (p.Ser429Ala) c.259T>G (p.Ser87Ala) | |
2 | g.111997347C>A | CA348231059 | MERTK | c.1475C>A (p.Ser492Ter) c.947C>A (p.Ser316Ter) c.*948C>A (n.*948C>A) c.444C>A (p.Phe148Leu) c.1286C>A (p.Ser429Ter) c.260C>A (p.Ser87Ter) | |
2 | g.111997347C>G | CA348231062 | MERTK | c.1475C>G (p.Ser492Ter) c.947C>G (p.Ser316Ter) c.*948C>G (n.*948C>G) c.444C>G (p.Phe148Leu) c.1286C>G (p.Ser429Ter) c.260C>G (p.Ser87Ter) | |
2 | g.111997347C>T | CA348231057 | MERTK | c.1475C>T (p.Ser492Leu) c.947C>T (p.Ser316Leu) c.*948C>T (n.*948C>T) c.444C>T (p.Phe148=) c.1286C>T (p.Ser429Leu) c.260C>T (p.Ser87Leu) | |
2 | g.111997348A>C | CA348231065 | MERTK | c.1476A>C (p.Ser492=) c.948A>C (p.Ser316=) c.*949A>C (n.*949A>C) c.445A>C (p.Asn149His) c.1287A>C (p.Ser429=) c.261A>C (p.Ser87=) | |
2 | g.111997348A>G | CA348231067 | MERTK | c.1476A>G (p.Ser492=) c.948A>G (p.Ser316=) c.*949A>G (n.*949A>G) c.445A>G (p.Asn149Asp) c.1287A>G (p.Ser429=) c.261A>G (p.Ser87=) | |
2 | g.111997348A>T | CA348231069 | MERTK | c.1476A>T (p.Ser492=) c.948A>T (p.Ser316=) c.*949A>T (n.*949A>T) c.445A>T (p.Asn149Tyr) c.1287A>T (p.Ser429=) c.261A>T (p.Ser87=) | |
2 | g.111997349dup | CA2660689213 | MERTK | c.1477dup (p.Thr493AsnfsTer?) c.949dup (p.Thr317AsnfsTer?) c.*950dup (n.*950dup) c.446dup (p.Asn149LysfsTer?) c.1288dup (p.Thr430AsnfsTer?) c.262dup (p.Thr88AsnfsTer?) | gnomAD v4 |
2 | g.111997349A= | CA1279566537 | MERTK | c.1477A= (p.Thr493=) c.949A= (p.Thr317=) c.*950A= (n.*950A=) c.446A= (p.Asn149=) c.1288A= (p.Thr430=) c.262A= (p.Thr88=) | |
2 | g.111997349A>C | CA348231072 | MERTK | c.1477A>C (p.Thr493Pro) c.949A>C (p.Thr317Pro) c.*950A>C (n.*950A>C) c.446A>C (p.Asn149Thr) c.1288A>C (p.Thr430Pro) c.262A>C (p.Thr88Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997349A>G | CA1831439 | MERTK | c.1477A>G (p.Thr493Ala) c.949A>G (p.Thr317Ala) c.*950A>G (n.*950A>G) c.446A>G (p.Asn149Ser) c.1288A>G (p.Thr430Ala) c.262A>G (p.Thr88Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997349A>T | CA348231075 | MERTK | c.1477A>T (p.Thr493Ser) c.949A>T (p.Thr317Ser) c.*950A>T (n.*950A>T) c.446A>T (p.Asn149Ile) c.1288A>T (p.Thr430Ser) c.262A>T (p.Thr88Ser) | |
2 | g.111997350C>A | CA348231081 | MERTK | c.1478C>A (p.Thr493Asn) c.950C>A (p.Thr317Asn) c.*951C>A (n.*951C>A) c.447C>A (p.Asn149Lys) c.1289C>A (p.Thr430Asn) c.263C>A (p.Thr88Asn) | |
2 | g.111997350C>G | CA348231080 | MERTK | c.1478C>G (p.Thr493Ser) c.950C>G (p.Thr317Ser) c.*951C>G (n.*951C>G) c.447C>G (p.Asn149Lys) c.1289C>G (p.Thr430Ser) c.263C>G (p.Thr88Ser) | |
2 | g.111997350C>T | CA348231077 | MERTK | c.1478C>T (p.Thr493Ile) c.950C>T (p.Thr317Ile) c.*951C>T (n.*951C>T) c.447C>T (p.Asn149=) c.1289C>T (p.Thr430Ile) c.263C>T (p.Thr88Ile) | |
2 | g.111997351T>A | CA348231083 | MERTK | c.1479T>A (p.Thr493=) c.951T>A (p.Thr317=) c.*952T>A (n.*952T>A) c.448T>A (p.Ser150Thr) c.1290T>A (p.Thr430=) c.264T>A (p.Thr88=) | |
2 | g.111997351T>C | CA348231086 | MERTK | c.1479T>C (p.Thr493=) c.951T>C (p.Thr317=) c.*952T>C (n.*952T>C) c.448T>C (p.Ser150Pro) c.1290T>C (p.Thr430=) c.264T>C (p.Thr88=) | |
2 | g.111997351T>G | CA53574347 | MERTK | c.1479T>G (p.Thr493=) c.951T>G (p.Thr317=) c.*952T>G (n.*952T>G) c.448T>G (p.Ser150Ala) c.1290T>G (p.Thr430=) c.264T>G (p.Thr88=) | dbSNP |
2 | g.111997351T= | CA1279566538 | MERTK | c.1479T= (p.Thr493=) c.951T= (p.Thr317=) c.*952T= (n.*952T=) c.448T= (p.Ser150=) c.1290T= (p.Thr430=) c.264T= (p.Thr88=) | |
2 | g.111997352C>A | CA348231089 | MERTK | c.1480C>A (p.Pro494Thr) c.952C>A (p.Pro318Thr) c.*953C>A (n.*953C>A) c.449C>A (p.Ser150Tyr) c.1291C>A (p.Pro431Thr) c.265C>A (p.Pro89Thr) | |
2 | g.111997352C>G | CA348231092 | MERTK | c.1480C>G (p.Pro494Ala) c.952C>G (p.Pro318Ala) c.*953C>G (n.*953C>G) c.449C>G (p.Ser150Cys) c.1291C>G (p.Pro431Ala) c.265C>G (p.Pro89Ala) | |
2 | g.111997352C>T | CA348231094 | MERTK | c.1480C>T (p.Pro494Ser) c.952C>T (p.Pro318Ser) c.*953C>T (n.*953C>T) c.449C>T (p.Ser150Phe) c.1291C>T (p.Pro431Ser) c.265C>T (p.Pro89Ser) | |
2 | g.111997353C>A | CA348231096 | MERTK | c.1481C>A (p.Pro494Gln) c.953C>A (p.Pro318Gln) c.*954C>A (n.*954C>A) c.450C>A (p.Ser150=) c.1292C>A (p.Pro431Gln) c.266C>A (p.Pro89Gln) | COSMIC COSMIC |
2 | g.111997353C= | CA1279566539 | MERTK | c.1481C= (p.Pro494=) c.953C= (p.Pro318=) c.*954C= (n.*954C=) c.450C= (p.Ser150=) c.1292C= (p.Pro431=) c.266C= (p.Pro89=) | |
2 | g.111997353C>G | CA348231100 | MERTK | c.1481C>G (p.Pro494Arg) c.953C>G (p.Pro318Arg) c.*954C>G (n.*954C>G) c.450C>G (p.Ser150=) c.1292C>G (p.Pro431Arg) c.266C>G (p.Pro89Arg) | |
2 | g.111997353C>T | CA1831440 | MERTK | c.1481C>T (p.Pro494Leu) c.953C>T (p.Pro318Leu) c.*954C>T (n.*954C>T) c.450C>T (p.Ser150=) c.1292C>T (p.Pro431Leu) c.266C>T (p.Pro89Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997354G>A | CA1831441 | MERTK | c.1482G>A (p.Pro494=) c.954G>A (p.Pro318=) c.*955G>A (n.*955G>A) c.451G>A (p.Gly151Ser) c.1293G>A (p.Pro431=) c.267G>A (p.Pro89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997354G>C | CA348231107 | MERTK | c.1482G>C (p.Pro494=) c.954G>C (p.Pro318=) c.*955G>C (n.*955G>C) c.451G>C (p.Gly151Arg) c.1293G>C (p.Pro431=) c.267G>C (p.Pro89=) | |
2 | g.111997354G= | CA1279566540 | MERTK | c.1482G= (p.Pro494=) c.954G= (p.Pro318=) c.*955G= (n.*955G=) c.451G= (p.Gly151=) c.1293G= (p.Pro431=) c.267G= (p.Pro89=) | |
2 | g.111997354G>T | CA348231110 | MERTK | c.1482G>T (p.Pro494=) c.954G>T (p.Pro318=) c.*955G>T (n.*955G>T) c.451G>T (p.Gly151Cys) c.1293G>T (p.Pro431=) c.267G>T (p.Pro89=) | |
2 | g.111997355G>A | CA348231112 | MERTK | c.1483G>A (p.Ala495Thr) c.955G>A (p.Ala319Thr) c.*956G>A (n.*956G>A) c.452G>A (p.Gly151Asp) c.1294G>A (p.Ala432Thr) c.268G>A (p.Ala90Thr) | |
2 | g.111997355G>C | CA348231114 | MERTK | c.1483G>C (p.Ala495Pro) c.955G>C (p.Ala319Pro) c.*956G>C (n.*956G>C) c.452G>C (p.Gly151Ala) c.1294G>C (p.Ala432Pro) c.268G>C (p.Ala90Pro) | |
2 | g.111997355G>T | CA348231117 | MERTK | c.1483G>T (p.Ala495Ser) c.955G>T (p.Ala319Ser) c.*956G>T (n.*956G>T) c.452G>T (p.Gly151Val) c.1294G>T (p.Ala432Ser) c.268G>T (p.Ala90Ser) | |
2 | g.111997356C>A | CA348231120 | MERTK | c.1484C>A (p.Ala495Glu) c.956C>A (p.Ala319Glu) c.*957C>A (n.*957C>A) c.453C>A (p.Gly151=) c.1295C>A (p.Ala432Glu) c.269C>A (p.Ala90Glu) | |
2 | g.111997356C= | CA1279566541 | MERTK | c.1484C= (p.Ala495=) c.956C= (p.Ala319=) c.*957C= (n.*957C=) c.453C= (p.Gly151=) c.1295C= (p.Ala432=) c.269C= (p.Ala90=) | |
2 | g.111997356C>G | CA348231122 | MERTK | c.1484C>G (p.Ala495Gly) c.956C>G (p.Ala319Gly) c.*957C>G (n.*957C>G) c.453C>G (p.Gly151=) c.1295C>G (p.Ala432Gly) c.269C>G (p.Ala90Gly) | |
2 | g.111997356C>T | CA1831442 | MERTK | c.1484C>T (p.Ala495Val) c.956C>T (p.Ala319Val) c.*957C>T (n.*957C>T) c.453C>T (p.Gly151=) c.1295C>T (p.Ala432Val) c.269C>T (p.Ala90Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997357G>A | CA1831443 | MERTK | c.1485G>A (p.Ala495=) c.957G>A (p.Ala319=) c.*958G>A (n.*958G>A) c.454G>A (p.Ala152Thr) c.1296G>A (p.Ala432=) c.270G>A (p.Ala90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997357G>C | CA348231125 | MERTK | c.1485G>C (p.Ala495=) c.957G>C (p.Ala319=) c.*958G>C (n.*958G>C) c.454G>C (p.Ala152Pro) c.1296G>C (p.Ala432=) c.270G>C (p.Ala90=) | |
2 | g.111997357G= | CA1279566542 | MERTK | c.1485G= (p.Ala495=) c.957G= (p.Ala319=) c.*958G= (n.*958G=) c.454G= (p.Ala152=) c.1296G= (p.Ala432=) c.270G= (p.Ala90=) | |
2 | g.111997357G>T | CA348231137 | MERTK | c.1485G>T (p.Ala495=) c.957G>T (p.Ala319=) c.*958G>T (n.*958G>T) c.454G>T (p.Ala152Ser) c.1296G>T (p.Ala432=) c.270G>T (p.Ala90=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.111997358C>A | CA348231138 | MERTK | c.1486C>A (p.Pro496Thr) c.958C>A (p.Pro320Thr) c.*959C>A (n.*959C>A) c.455C>A (p.Ala152Asp) c.1297C>A (p.Pro433Thr) c.271C>A (p.Pro91Thr) | |
2 | g.111997358C>G | CA348231140 | MERTK | c.1486C>G (p.Pro496Ala) c.958C>G (p.Pro320Ala) c.*959C>G (n.*959C>G) c.455C>G (p.Ala152Gly) c.1297C>G (p.Pro433Ala) c.271C>G (p.Pro91Ala) | |
2 | g.111997358C>T | CA348231139 | MERTK | c.1486C>T (p.Pro496Ser) c.958C>T (p.Pro320Ser) c.*959C>T (n.*959C>T) c.455C>T (p.Ala152Val) c.1297C>T (p.Pro433Ser) c.271C>T (p.Pro91Ser) | |
2 | g.111997359C>A | CA348231141 | MERTK | c.1487C>A (p.Pro496His) c.959C>A (p.Pro320His) c.*960C>A (n.*960C>A) c.456C>A (p.Ala152=) c.1298C>A (p.Pro433His) c.272C>A (p.Pro91His) | |
2 | g.111997359C= | CA1279566543 | MERTK | c.1487C= (p.Pro496=) c.959C= (p.Pro320=) c.*960C= (n.*960C=) c.456C= (p.Ala152=) c.1298C= (p.Pro433=) c.272C= (p.Pro91=) | |
2 | g.111997359C>G | CA348231142 | MERTK | c.1487C>G (p.Pro496Arg) c.959C>G (p.Pro320Arg) c.*960C>G (n.*960C>G) c.456C>G (p.Ala152=) c.1298C>G (p.Pro433Arg) c.272C>G (p.Pro91Arg) | |
2 | g.111997359C>T | CA1831444 | MERTK | c.1487C>T (p.Pro496Leu) c.959C>T (p.Pro320Leu) c.*960C>T (n.*960C>T) c.456C>T (p.Ala152=) c.1298C>T (p.Pro433Leu) c.272C>T (p.Pro91Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997360T>A | CA348231143 | MERTK | c.1488T>A (p.Pro496=) c.960T>A (p.Pro320=) c.*961T>A (n.*961T>A) c.457T>A (p.Trp153Arg) c.1299T>A (p.Pro433=) c.273T>A (p.Pro91=) | |
2 | g.111997360T>C | CA348231145 | MERTK | c.1488T>C (p.Pro496=) c.960T>C (p.Pro320=) c.*961T>C (n.*961T>C) c.457T>C (p.Trp153Arg) c.1299T>C (p.Pro433=) c.273T>C (p.Pro91=) | |
2 | g.111997360T>G | CA348231146 | MERTK | c.1488T>G (p.Pro496=) c.960T>G (p.Pro320=) c.*961T>G (n.*961T>G) c.457T>G (p.Trp153Gly) c.1299T>G (p.Pro433=) c.273T>G (p.Pro91=) | |
2 | g.111997361G>A | CA1831445 | MERTK | c.1489G>A (p.Gly497Ser) c.961G>A (p.Gly321Ser) c.*962G>A (n.*962G>A) c.458G>A (p.Trp153Ter) c.1300G>A (p.Gly434Ser) c.274G>A (p.Gly92Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997361G>C | CA348231158 | MERTK | c.1489G>C (p.Gly497Arg) c.961G>C (p.Gly321Arg) c.*962G>C (n.*962G>C) c.458G>C (p.Trp153Ser) c.1300G>C (p.Gly434Arg) c.274G>C (p.Gly92Arg) | |
2 | g.111997361G= | CA1279566544 | MERTK | c.1489G= (p.Gly497=) c.961G= (p.Gly321=) c.*962G= (n.*962G=) c.458G= (p.Trp153=) c.1300G= (p.Gly434=) c.274G= (p.Gly92=) | |
2 | g.111997361G>T | CA348231160 | MERTK | c.1489G>T (p.Gly497Cys) c.961G>T (p.Gly321Cys) c.*962G>T (n.*962G>T) c.458G>T (p.Trp153Leu) c.1300G>T (p.Gly434Cys) c.274G>T (p.Gly92Cys) | |
2 | g.111997362G>A | CA348231164 | MERTK | c.1490G>A (p.Gly497Asp) c.962G>A (p.Gly321Asp) c.*963G>A (n.*963G>A) c.459G>A (p.Trp153Ter) c.1301G>A (p.Gly434Asp) c.275G>A (p.Gly92Asp) | ClinVar gnomAD v4 |
2 | g.111997362G>C | CA348231165 | MERTK | c.1490G>C (p.Gly497Ala) c.962G>C (p.Gly321Ala) c.*963G>C (n.*963G>C) c.459G>C (p.Trp153Cys) c.1301G>C (p.Gly434Ala) c.275G>C (p.Gly92Ala) | |
2 | g.111997362G>T | CA348231168 | MERTK | c.1490G>T (p.Gly497Val) c.962G>T (p.Gly321Val) c.*963G>T (n.*963G>T) c.459G>T (p.Trp153Cys) c.1301G>T (p.Gly434Val) c.275G>T (p.Gly92Val) | |
2 | g.111997363C>A | CA348231174 | MERTK | c.1491C>A (p.Gly497=) c.963C>A (p.Gly321=) c.*964C>A (n.*964C>A) c.460C>A (p.Gln154Lys) c.1302C>A (p.Gly434=) c.276C>A (p.Gly92=) | |
2 | g.111997363C>G | CA348231169 | MERTK | c.1491C>G (p.Gly497=) c.963C>G (p.Gly321=) c.*964C>G (n.*964C>G) c.460C>G (p.Gln154Glu) c.1302C>G (p.Gly434=) c.276C>G (p.Gly92=) | |
2 | g.111997363C>T | CA348231171 | MERTK | c.1491C>T (p.Gly497=) c.963C>T (p.Gly321=) c.*964C>T (n.*964C>T) c.460C>T (p.Gln154Ter) c.1302C>T (p.Gly434=) c.276C>T (p.Gly92=) | dbSNP gnomAD v4 |
2 | g.111997364A>C | CA348231178 | MERTK | c.1492A>C (p.Asn498His) c.964A>C (p.Asn322His) c.*965A>C (n.*965A>C) c.461A>C (p.Gln154Pro) c.1303A>C (p.Asn435His) c.277A>C (p.Asn93His) | |
2 | g.111997364A>G | CA348231181 | MERTK | c.1492A>G (p.Asn498Asp) c.964A>G (p.Asn322Asp) c.*965A>G (n.*965A>G) c.461A>G (p.Gln154Arg) c.1303A>G (p.Asn435Asp) c.277A>G (p.Asn93Asp) | |
2 | g.111997364A>T | CA348231185 | MERTK | c.1492A>T (p.Asn498Tyr) c.964A>T (p.Asn322Tyr) c.*965A>T (n.*965A>T) c.461A>T (p.Gln154Leu) c.1303A>T (p.Asn435Tyr) c.277A>T (p.Asn93Tyr) | |
2 | g.111997365A= | CA1279566545 | MERTK | c.1493A= (p.Asn498=) c.965A= (p.Asn322=) c.*966A= (n.*966A=) c.462A= (p.Gln154=) c.1304A= (p.Asn435=) c.278A= (p.Asn93=) | |
2 | g.111997365A>C | CA348231187 | MERTK | c.1493A>C (p.Asn498Thr) c.965A>C (p.Asn322Thr) c.*966A>C (n.*966A>C) c.462A>C (p.Gln154His) c.1304A>C (p.Asn435Thr) c.278A>C (p.Asn93Thr) | |
2 | g.111997365A>G | CA1831446 | MERTK | c.1493A>G (p.Asn498Ser) c.965A>G (p.Asn322Ser) c.*966A>G (n.*966A>G) c.462A>G (p.Gln154=) c.1304A>G (p.Asn435Ser) c.278A>G (p.Asn93Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997365A>T | CA348231190 | MERTK | c.1493A>T (p.Asn498Ile) c.965A>T (p.Asn322Ile) c.*966A>T (n.*966A>T) c.462A>T (p.Gln154His) c.1304A>T (p.Asn435Ile) c.278A>T (p.Asn93Ile) | |
2 | g.111997365_111997366delinsAC | CA1279566546 | MERTK | c.1493_1494delinsAC (p.Asn498=) c.965_966delinsAC (p.Asn322=) c.*966_*967delinsAC (n.*966_*967delinsAC) c.462_463delinsAC (p.Gln154=) c.1304_1305delinsAC (p.Asn435=) c.278_279delinsAC (p.Asn93=) | |
2 | g.111997365_111997366delinsGT | CA53574375 | MERTK | c.1493_1494delinsGT (p.Asn498Ser) c.965_966delinsGT (p.Asn322Ser) c.*966_*967delinsGT (n.*966_*967delinsGT) c.462_463delinsGT (p.Arg155Cys) c.1304_1305delinsGT (p.Asn435Ser) c.278_279delinsGT (p.Asn93Ser) | ClinVar dbSNP |
2 | g.111997366C>A | CA348231193 | MERTK | c.1494C>A (p.Asn498Lys) c.966C>A (p.Asn322Lys) c.*967C>A (n.*967C>A) c.463C>A (p.Arg155Ser) c.1305C>A (p.Asn435Lys) c.279C>A (p.Asn93Lys) | |
2 | g.111997366C= | CA1279566547 | MERTK | c.1494C= (p.Asn498=) c.966C= (p.Asn322=) c.*967C= (n.*967C=) c.463C= (p.Arg155=) c.1305C= (p.Asn435=) c.279C= (p.Asn93=) | |
2 | g.111997366C>G | CA348231207 | MERTK | c.1494C>G (p.Asn498Lys) c.966C>G (p.Asn322Lys) c.*967C>G (n.*967C>G) c.463C>G (p.Arg155Gly) c.1305C>G (p.Asn435Lys) c.279C>G (p.Asn93Lys) | COSMIC |
2 | g.111997366C>T | CA1831447 | MERTK | c.1494C>T (p.Asn498=) c.966C>T (p.Asn322=) c.*967C>T (n.*967C>T) c.463C>T (p.Arg155Cys) c.1305C>T (p.Asn435=) c.279C>T (p.Asn93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997367G>A | CA1831448 | MERTK | c.1495G>A (p.Ala499Thr) c.967G>A (p.Ala323Thr) c.*968G>A (n.*968G>A) c.464G>A (p.Arg155His) c.1306G>A (p.Ala436Thr) c.280G>A (p.Ala94Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997367G>C | CA348231215 | MERTK | c.1495G>C (p.Ala499Pro) c.967G>C (p.Ala323Pro) c.*968G>C (n.*968G>C) c.464G>C (p.Arg155Pro) c.1306G>C (p.Ala436Pro) c.280G>C (p.Ala94Pro) | gnomAD v4 |
2 | g.111997367G= | CA1279566548 | MERTK | c.1495G= (p.Ala499=) c.967G= (p.Ala323=) c.*968G= (n.*968G=) c.464G= (p.Arg155=) c.1306G= (p.Ala436=) c.280G= (p.Ala94=) | |
2 | g.111997367G>T | CA348231217 | MERTK | c.1495G>T (p.Ala499Ser) c.967G>T (p.Ala323Ser) c.*968G>T (n.*968G>T) c.464G>T (p.Arg155Leu) c.1306G>T (p.Ala436Ser) c.280G>T (p.Ala94Ser) | |
2 | g.111997368C>A | CA348231221 | MERTK | c.1496C>A (p.Ala499Glu) c.968C>A (p.Ala323Glu) c.*969C>A (n.*969C>A) c.465C>A (p.Arg155=) c.1307C>A (p.Ala436Glu) c.281C>A (p.Ala94Glu) | |
2 | g.111997368C= | CA1279566549 | MERTK | c.1496C= (p.Ala499=) c.968C= (p.Ala323=) c.*969C= (n.*969C=) c.465C= (p.Arg155=) c.1307C= (p.Ala436=) c.281C= (p.Ala94=) | |
2 | g.111997368C>G | CA348231222 | MERTK | c.1496C>G (p.Ala499Gly) c.968C>G (p.Ala323Gly) c.*969C>G (n.*969C>G) c.465C>G (p.Arg155=) c.1307C>G (p.Ala436Gly) c.281C>G (p.Ala94Gly) | |
2 | g.111997368C>T | CA348231220 | MERTK | c.1496C>T (p.Ala499Val) c.968C>T (p.Ala323Val) c.*969C>T (n.*969C>T) c.465C>T (p.Arg155=) c.1307C>T (p.Ala436Val) c.281C>T (p.Ala94Val) | dbSNP gnomAD v4 |
2 | g.111997369A>C | CA428274268 | MERTK | c.1497A>C (p.Ala499=) c.969A>C (p.Ala323=) c.*970A>C (n.*970A>C) c.466A>C (p.Arg156=) c.1308A>C (p.Ala436=) c.282A>C (p.Ala94=) | |
2 | g.111997369A>G | CA348231226 | MERTK | c.1497A>G (p.Ala499=) c.969A>G (p.Ala323=) c.*970A>G (n.*970A>G) c.466A>G (p.Arg156Gly) c.1308A>G (p.Ala436=) c.282A>G (p.Ala94=) | |
2 | g.111997369A>T | CA348231224 | MERTK | c.1497A>T (p.Ala499=) c.969A>T (p.Ala323=) c.*970A>T (n.*970A>T) c.466A>T (p.Arg156Ter) c.1308A>T (p.Ala436=) c.282A>T (p.Ala94=) | |
2 | g.111997370G>A | CA348231229 | MERTK | c.1498G>A (p.Asp500Asn) c.970G>A (p.Asp324Asn) c.*971G>A (n.*971G>A) n.1G>A c.467G>A (p.Arg156Lys) c.1309G>A (p.Asp437Asn) c.283G>A (p.Asp95Asn) | |
2 | g.111997370G>C | CA348231228 | MERTK | c.1498G>C (p.Asp500His) c.970G>C (p.Asp324His) c.*971G>C (n.*971G>C) n.1G>C c.467G>C (p.Arg156Thr) c.1309G>C (p.Asp437His) c.283G>C (p.Asp95His) | |
2 | g.111997370G>T | CA348231230 | MERTK | c.1498G>T (p.Asp500Tyr) c.970G>T (p.Asp324Tyr) c.*971G>T (n.*971G>T) n.1G>T c.467G>T (p.Arg156Ile) c.1309G>T (p.Asp437Tyr) c.283G>T (p.Asp95Tyr) | |
2 | g.111997371A>C | CA348231232 | MERTK | c.1499A>C (p.Asp500Ala) c.971A>C (p.Asp324Ala) c.*972A>C (n.*972A>C) n.2A>C c.468A>C (p.Arg156Ser) c.1310A>C (p.Asp437Ala) c.284A>C (p.Asp95Ala) | |
2 | g.111997371A>G | CA348231234 | MERTK | c.1499A>G (p.Asp500Gly) c.971A>G (p.Asp324Gly) c.*972A>G (n.*972A>G) n.2A>G c.468A>G (p.Arg156=) c.1310A>G (p.Asp437Gly) c.284A>G (p.Asp95Gly) | |
2 | g.111997371A>T | CA348231236 | MERTK | c.1499A>T (p.Asp500Val) c.971A>T (p.Asp324Val) c.*972A>T (n.*972A>T) n.2A>T c.468A>T (p.Arg156Ser) c.1310A>T (p.Asp437Val) c.284A>T (p.Asp95Val) | |
2 | g.111997372T>A | CA348231238 | MERTK | c.1500T>A (p.Asp500Glu) c.972T>A (p.Asp324Glu) c.*973T>A (n.*973T>A) n.3T>A c.469T>A (p.Ser157Thr) c.1311T>A (p.Asp437Glu) c.285T>A (p.Asp95Glu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.111997372T>C | CA348231239 | MERTK | c.1500T>C (p.Asp500=) c.972T>C (p.Asp324=) c.*973T>C (n.*973T>C) n.3T>C c.469T>C (p.Ser157Pro) c.1311T>C (p.Asp437=) c.285T>C (p.Asp95=) | |
2 | g.111997372T>G | CA348231241 | MERTK | c.1500T>G (p.Asp500Glu) c.972T>G (p.Asp324Glu) c.*973T>G (n.*973T>G) n.3T>G c.469T>G (p.Ser157Ala) c.1311T>G (p.Asp437Glu) c.285T>G (p.Asp95Glu) | |
2 | g.111997372T= | CA1279566550 | MERTK | c.1500T= (p.Asp500=) c.972T= (p.Asp324=) c.*973T= (n.*973T=) n.3T= c.469T= (p.Ser157=) c.1311T= (p.Asp437=) c.285T= (p.Asp95=) | |
2 | g.111997373C>A | CA348231242 | MERTK | c.1501C>A (p.Pro501Thr) c.973C>A (p.Pro325Thr) c.*974C>A (n.*974C>A) n.4C>A c.470C>A (p.Ser157Tyr) c.1312C>A (p.Pro438Thr) c.286C>A (p.Pro96Thr) | |
2 | g.111997373C>G | CA348231244 | MERTK | c.1501C>G (p.Pro501Ala) c.973C>G (p.Pro325Ala) c.*974C>G (n.*974C>G) n.4C>G c.470C>G (p.Ser157Cys) c.1312C>G (p.Pro438Ala) c.286C>G (p.Pro96Ala) | gnomAD v4 |
2 | g.111997373C>T | CA348231246 | MERTK | c.1501C>T (p.Pro501Ser) c.973C>T (p.Pro325Ser) c.*974C>T (n.*974C>T) n.4C>T c.470C>T (p.Ser157Phe) c.1312C>T (p.Pro438Ser) c.286C>T (p.Pro96Ser) | COSMIC COSMIC |
2 | g.111997374C>A | CA348231247 | MERTK | c.1502C>A (p.Pro501His) c.974C>A (p.Pro325His) c.*975C>A (n.*975C>A) n.5C>A c.471C>A (p.Ser157=) c.1313C>A (p.Pro438His) c.287C>A (p.Pro96His) | |
2 | g.111997374C>G | CA348231248 | MERTK | c.1502C>G (p.Pro501Arg) c.974C>G (p.Pro325Arg) c.*975C>G (n.*975C>G) n.5C>G c.471C>G (p.Ser157=) c.1313C>G (p.Pro438Arg) c.287C>G (p.Pro96Arg) | |
2 | g.111997374C>T | CA348231250 | MERTK | c.1502C>T (p.Pro501Leu) c.974C>T (p.Pro325Leu) c.*975C>T (n.*975C>T) n.5C>T c.471C>T (p.Ser157=) c.1313C>T (p.Pro438Leu) c.287C>T (p.Pro96Leu) | gnomAD v4 |
2 | g.111997375T>A | CA348231255 | MERTK | c.1503T>A (p.Pro501=) c.975T>A (p.Pro325=) c.*976T>A (n.*976T>A) n.6T>A c.472T>A (p.Cys158Ser) c.1314T>A (p.Pro438=) c.288T>A (p.Pro96=) | |
2 | g.111997375T>C | CA348231254 | MERTK | c.1503T>C (p.Pro501=) c.975T>C (p.Pro325=) c.*976T>C (n.*976T>C) n.6T>C c.472T>C (p.Cys158Arg) c.1314T>C (p.Pro438=) c.288T>C (p.Pro96=) | |
2 | g.111997375T>G | CA348231252 | MERTK | c.1503T>G (p.Pro501=) c.975T>G (p.Pro325=) c.*976T>G (n.*976T>G) n.6T>G c.472T>G (p.Cys158Gly) c.1314T>G (p.Pro438=) c.288T>G (p.Pro96=) | |
2 | g.111997376G>A | CA53574409 | MERTK | c.1504G>A (p.Val502Met) c.976G>A (p.Val326Met) c.*977G>A (n.*977G>A) n.7G>A c.473G>A (p.Cys158Tyr) c.1315G>A (p.Val439Met) c.289G>A (p.Val97Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.111997376G>C | CA348231257 | MERTK | c.1504G>C (p.Val502Leu) c.976G>C (p.Val326Leu) c.*977G>C (n.*977G>C) n.7G>C c.473G>C (p.Cys158Ser) c.1315G>C (p.Val439Leu) c.289G>C (p.Val97Leu) | |
2 | g.111997376G= | CA1279566551 | MERTK | c.1504G= (p.Val502=) c.976G= (p.Val326=) c.*977G= (n.*977G=) n.7G= c.473G= (p.Cys158=) c.1315G= (p.Val439=) c.289G= (p.Val97=) | |
2 | g.111997376G>T | CA348231259 | MERTK | c.1504G>T (p.Val502Leu) c.976G>T (p.Val326Leu) c.*977G>T (n.*977G>T) n.7G>T c.473G>T (p.Cys158Phe) c.1315G>T (p.Val439Leu) c.289G>T (p.Val97Leu) | |
2 | g.111997377T>A | CA348231261 | MERTK | c.1505T>A (p.Val502Glu) c.977T>A (p.Val326Glu) c.*978T>A (n.*978T>A) n.8T>A c.474T>A (p.Cys158Ter) c.1316T>A (p.Val439Glu) c.290T>A (p.Val97Glu) | |
2 | g.111997377T>C | CA348231262 | MERTK | c.1505T>C (p.Val502Ala) c.977T>C (p.Val326Ala) c.*978T>C (n.*978T>C) n.8T>C c.474T>C (p.Cys158=) c.1316T>C (p.Val439Ala) c.290T>C (p.Val97Ala) | gnomAD v4 |
2 | g.111997377T>G | CA348231264 | MERTK | c.1505T>G (p.Val502Gly) c.977T>G (p.Val326Gly) c.*978T>G (n.*978T>G) n.8T>G c.474T>G (p.Cys158Trp) c.1316T>G (p.Val439Gly) c.290T>G (p.Val97Gly) | |
2 | g.111997378G>A | CA348231266 | MERTK | c.1506G>A (p.Val502=) c.978G>A (p.Val326=) c.*979G>A (n.*979G>A) n.9G>A c.475G>A (p.Ala159Thr) c.1317G>A (p.Val439=) c.291G>A (p.Val97=) | |
2 | g.111997378G>C | CA348231268 | MERTK | c.1506G>C (p.Val502=) c.978G>C (p.Val326=) c.*979G>C (n.*979G>C) n.9G>C c.475G>C (p.Ala159Pro) c.1317G>C (p.Val439=) c.291G>C (p.Val97=) | |
2 | g.111997378G>T | CA348231269 | MERTK | c.1506G>T (p.Val502=) c.978G>T (p.Val326=) c.*979G>T (n.*979G>T) n.9G>T c.475G>T (p.Ala159Ser) c.1317G>T (p.Val439=) c.291G>T (p.Val97=) | |
2 | g.111997379C>A | CA348231270 | MERTK | c.1507C>A (p.Leu503Ile) c.979C>A (p.Leu327Ile) c.*980C>A (n.*980C>A) n.10C>A c.476C>A (p.Ala159Asp) c.1318C>A (p.Leu440Ile) c.292C>A (p.Leu98Ile) | ClinVar dbSNP |
2 | g.111997379C= | CA1279566552 | MERTK | c.1507C= (p.Leu503=) c.979C= (p.Leu327=) c.*980C= (n.*980C=) n.10C= c.476C= (p.Ala159=) c.1318C= (p.Leu440=) c.292C= (p.Leu98=) | |
2 | g.111997379C>G | CA348231272 | MERTK | c.1507C>G (p.Leu503Val) c.979C>G (p.Leu327Val) c.*980C>G (n.*980C>G) n.10C>G c.476C>G (p.Ala159Gly) c.1318C>G (p.Leu440Val) c.292C>G (p.Leu98Val) | |
2 | g.111997379C>T | CA348231274 | MERTK | c.1507C>T (p.Leu503Phe) c.979C>T (p.Leu327Phe) c.*980C>T (n.*980C>T) n.10C>T c.476C>T (p.Ala159Val) c.1318C>T (p.Leu440Phe) c.292C>T (p.Leu98Phe) | |
2 | g.111997380T>A | CA348231279 | MERTK | c.1508T>A (p.Leu503His) c.980T>A (p.Leu327His) c.*981T>A (n.*981T>A) n.11T>A c.477T>A (p.Ala159=) c.1319T>A (p.Leu440His) c.293T>A (p.Leu98His) | |
2 | g.111997380T>C | CA348231277 | MERTK | c.1508T>C (p.Leu503Pro) c.980T>C (p.Leu327Pro) c.*981T>C (n.*981T>C) n.11T>C c.477T>C (p.Ala159=) c.1319T>C (p.Leu440Pro) c.293T>C (p.Leu98Pro) | |
2 | g.111997380T>G | CA348231276 | MERTK | c.1508T>G (p.Leu503Arg) c.980T>G (p.Leu327Arg) c.*981T>G (n.*981T>G) n.11T>G c.477T>G (p.Ala159=) c.1319T>G (p.Leu440Arg) c.293T>G (p.Leu98Arg) | |
2 | g.111997381C>A | CA348231280 | MERTK | c.1509C>A (p.Leu503=) c.981C>A (p.Leu327=) c.*982C>A (n.*982C>A) n.12C>A c.478C>A (p.His160Asn) c.1320C>A (p.Leu440=) c.294C>A (p.Leu98=) | |
2 | g.111997381C= | CA1279566553 | MERTK | c.1509C= (p.Leu503=) c.981C= (p.Leu327=) c.*982C= (n.*982C=) n.12C= c.478C= (p.His160=) c.1320C= (p.Leu440=) c.294C= (p.Leu98=) | |
2 | g.111997381C>G | CA348231282 | MERTK | c.1509C>G (p.Leu503=) c.981C>G (p.Leu327=) c.*982C>G (n.*982C>G) n.12C>G c.478C>G (p.His160Asp) c.1320C>G (p.Leu440=) c.294C>G (p.Leu98=) | |
2 | g.111997381C>T | CA1831449 | MERTK | c.1509C>T (p.Leu503=) c.981C>T (p.Leu327=) c.*982C>T (n.*982C>T) n.12C>T c.478C>T (p.His160Tyr) c.1320C>T (p.Leu440=) c.294C>T (p.Leu98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.111997382A= | CA1279566554 | MERTK | c.1510A= (p.Ile504=) c.982A= (p.Ile328=) c.*983A= (n.*983A=) n.13A= c.479A= (p.His160=) c.1321A= (p.Ile441=) c.295A= (p.Ile99=) | |
2 | g.111997382A>C | CA348231284 | MERTK | c.1510A>C (p.Ile504Leu) c.982A>C (p.Ile328Leu) c.*983A>C (n.*983A>C) n.13A>C c.479A>C (p.His160Pro) c.1321A>C (p.Ile441Leu) c.295A>C (p.Ile99Leu) | |
2 | g.111997382A>G | CA1831450 | MERTK | c.1510A>G (p.Ile504Val) c.982A>G (p.Ile328Val) c.*983A>G (n.*983A>G) n.13A>G c.479A>G (p.His160Arg) c.1321A>G (p.Ile441Val) c.295A>G (p.Ile99Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.111997382A>T | CA348231287 | MERTK | c.1510A>T (p.Ile504Phe) c.982A>T (p.Ile328Phe) c.*983A>T (n.*983A>T) n.13A>T c.479A>T (p.His160Leu) c.1321A>T (p.Ile441Phe) c.295A>T (p.Ile99Phe) | |
2 | g.111997383T>A | CA348231289 | MERTK | c.1511T>A (p.Ile504Asn) c.983T>A (p.Ile328Asn) c.*984T>A (n.*984T>A) n.14T>A c.480T>A (p.His160Gln) c.1322T>A (p.Ile441Asn) c.296T>A (p.Ile99Asn) | |
2 | g.111997383T>C | CA348231290 | MERTK | c.1511T>C (p.Ile504Thr) c.983T>C (p.Ile328Thr) c.*984T>C (n.*984T>C) n.14T>C c.480T>C (p.His160=) c.1322T>C (p.Ile441Thr) c.296T>C (p.Ile99Thr) | |
2 | g.111997383T>G | CA348231292 | MERTK | c.1511T>G (p.Ile504Ser) c.983T>G (p.Ile328Ser) c.*984T>G (n.*984T>G) n.14T>G c.480T>G (p.His160Gln) c.1322T>G (p.Ile441Ser) c.296T>G (p.Ile99Ser) | |
2 | g.111997383T= | CA1279566555 | MERTK | c.1511T= (p.Ile504=) c.983T= (p.Ile328=) c.*984T= (n.*984T=) n.14T= c.480T= (p.His160=) c.1322T= (p.Ile441=) c.296T= (p.Ile99=) | |
2 | g.111997384C>A | CA348231294 | MERTK | c.1512C>A (p.Ile504=) c.984C>A (p.Ile328=) c.*985C>A (n.*985C>A) n.15C>A c.481C>A (p.His161Asn) c.1323C>A (p.Ile441=) c.297C>A (p.Ile99=) | gnomAD v4 |
2 | g.111997384C>G | CA348231296 | MERTK | c.1512C>G (p.Ile504Met) c.984C>G (p.Ile328Met) c.*985C>G (n.*985C>G) n.15C>G c.481C>G (p.His161Asp) c.1323C>G (p.Ile441Met) c.297C>G (p.Ile99Met) | gnomAD v4 |
2 | g.111997384C>T | CA348231297 | MERTK | c.1512C>T (p.Ile504=) c.984C>T (p.Ile328=) c.*985C>T (n.*985C>T) n.15C>T c.481C>T (p.His161Tyr) c.1323C>T (p.Ile441=) c.297C>T (p.Ile99=) | gnomAD v4 |
2 | g.111997385_111997393dup | CA1279566556 | MERTK | c.1513_1521dup (p.Gly507_Cys508insIlePheGly) c.985_993dup (p.Gly331_Cys332insIlePheGly) c.*986_*994dup (n.*986_*994dup) n.16_24dup c.482_490dup (p.Trp163_Leu164insHisLeuTrp) c.1324_1332dup (p.Gly444_Cys445insIlePheGly) c.298_306dup (p.Gly102_Cys103insIlePheGly) | ClinVar dbSNP |
2 | g.111997385A= | CA1279566557 | MERTK | c.1513A= (p.Ile505=) c.985A= (p.Ile329=) c.*986A= (n.*986A=) n.16A= c.482A= (p.His161=) c.1324A= (p.Ile442=) c.298A= (p.Ile100=) | |
2 | g.111997385A>C | CA348231300 | MERTK | c.1513A>C (p.Ile505Leu) c.985A>C (p.Ile329Leu) c.*986A>C (n.*986A>C) n.16A>C c.482A>C (p.His161Pro) c.1324A>C (p.Ile442Leu) c.298A>C (p.Ile100Leu) | |
2 | g.111997385A>G | CA348231299 | MERTK | c.1513A>G (p.Ile505Val) c.985A>G (p.Ile329Val) c.*986A>G (n.*986A>G) n.16A>G c.482A>G (p.His161Arg) c.1324A>G (p.Ile442Val) c.298A>G (p.Ile100Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997385A>T | CA348231298 | MERTK | c.1513A>T (p.Ile505Phe) c.985A>T (p.Ile329Phe) c.*986A>T (n.*986A>T) n.16A>T c.482A>T (p.His161Leu) c.1324A>T (p.Ile442Phe) c.298A>T (p.Ile100Phe) | |
2 | g.111997386T>A | CA348231301 | MERTK | c.1514T>A (p.Ile505Asn) c.986T>A (p.Ile329Asn) c.*987T>A (n.*987T>A) n.17T>A c.483T>A (p.His161Gln) c.1325T>A (p.Ile442Asn) c.299T>A (p.Ile100Asn) | |
2 | g.111997386T>C | CA1831451 | MERTK | c.1514T>C (p.Ile505Thr) c.986T>C (p.Ile329Thr) c.*987T>C (n.*987T>C) n.17T>C c.483T>C (p.His161=) c.1325T>C (p.Ile442Thr) c.299T>C (p.Ile100Thr) | dbSNP ExAC gnomAD v2 |
2 | g.111997386T>G | CA348231303 | MERTK | c.1514T>G (p.Ile505Ser) c.986T>G (p.Ile329Ser) c.*987T>G (n.*987T>G) n.17T>G c.483T>G (p.His161Gln) c.1325T>G (p.Ile442Ser) c.299T>G (p.Ile100Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.111997386T= | CA1279566558 | MERTK | c.1514T= (p.Ile505=) c.986T= (p.Ile329=) c.*987T= (n.*987T=) n.17T= c.483T= (p.His161=) c.1325T= (p.Ile442=) c.299T= (p.Ile100=) | |
2 | g.111997387C>A | CA348231305 | MERTK | c.1515C>A (p.Ile505=) c.987C>A (p.Ile329=) c.*988C>A (n.*988C>A) n.18C>A c.484C>A (p.Leu162Ile) c.1326C>A (p.Ile442=) c.300C>A (p.Ile100=) | dbSNP gnomAD v4 |
2 | g.111997387C= | CA1279566559 | MERTK | c.1515C= (p.Ile505=) c.987C= (p.Ile329=) c.*988C= (n.*988C=) n.18C= c.484C= (p.Leu162=) c.1326C= (p.Ile442=) c.300C= (p.Ile100=) | |
2 | g.111997387C>G | CA348231307 | MERTK | c.1515C>G (p.Ile505Met) c.987C>G (p.Ile329Met) c.*988C>G (n.*988C>G) n.18C>G c.484C>G (p.Leu162Val) c.1326C>G (p.Ile442Met) c.300C>G (p.Ile100Met) | |
2 | g.111997387C>T | CA348231308 | MERTK | c.1515C>T (p.Ile505=) c.987C>T (p.Ile329=) c.*988C>T (n.*988C>T) n.18C>T c.484C>T (p.Leu162Phe) c.1326C>T (p.Ile442=) c.300C>T (p.Ile100=) | |
2 | g.111997388T>A | CA348231310 | MERTK | c.1516T>A (p.Phe506Ile) c.988T>A (p.Phe330Ile) c.*989T>A (n.*989T>A) n.19T>A c.485T>A (p.Leu162His) c.1327T>A (p.Phe443Ile) c.301T>A (p.Phe101Ile) | |
2 | g.111997388T>C | CA348231311 | MERTK | c.1516T>C (p.Phe506Leu) c.988T>C (p.Phe330Leu) c.*989T>C (n.*989T>C) n.19T>C c.485T>C (p.Leu162Pro) c.1327T>C (p.Phe443Leu) c.301T>C (p.Phe101Leu) | |
2 | g.111997388T>G | CA1831452 | MERTK | c.1516T>G (p.Phe506Val) c.988T>G (p.Phe330Val) c.*989T>G (n.*989T>G) n.19T>G c.485T>G (p.Leu162Arg) c.1327T>G (p.Phe443Val) c.301T>G (p.Phe101Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997388T= | CA1279566560 | MERTK | c.1516T= (p.Phe506=) c.988T= (p.Phe330=) c.*989T= (n.*989T=) n.19T= c.485T= (p.Leu162=) c.1327T= (p.Phe443=) c.301T= (p.Phe101=) | |
2 | g.111997389T>A | CA348231314 | MERTK | c.1517T>A (p.Phe506Tyr) c.989T>A (p.Phe330Tyr) c.*990T>A (n.*990T>A) n.20T>A c.486T>A (p.Leu162=) c.1328T>A (p.Phe443Tyr) c.302T>A (p.Phe101Tyr) | |
2 | g.111997389T>C | CA348231315 | MERTK | c.1517T>C (p.Phe506Ser) c.989T>C (p.Phe330Ser) c.*990T>C (n.*990T>C) n.20T>C c.486T>C (p.Leu162=) c.1328T>C (p.Phe443Ser) c.302T>C (p.Phe101Ser) | ClinVar |
2 | g.111997389T>G | CA348231316 | MERTK | c.1517T>G (p.Phe506Cys) c.989T>G (p.Phe330Cys) c.*990T>G (n.*990T>G) n.20T>G c.486T>G (p.Leu162=) c.1328T>G (p.Phe443Cys) c.302T>G (p.Phe101Cys) | |
2 | g.111997390T>A | CA348231322 | MERTK | c.1518T>A (p.Phe506Leu) c.990T>A (p.Phe330Leu) c.*991T>A (n.*991T>A) n.21T>A c.487T>A (p.Trp163Arg) c.1329T>A (p.Phe443Leu) c.303T>A (p.Phe101Leu) | |
2 | g.111997390T>C | CA348231320 | MERTK | c.1518T>C (p.Phe506=) c.990T>C (p.Phe330=) c.*991T>C (n.*991T>C) n.21T>C c.487T>C (p.Trp163Arg) c.1329T>C (p.Phe443=) c.303T>C (p.Phe101=) | |
2 | g.111997390T>G | CA348231319 | MERTK | c.1518T>G (p.Phe506Leu) c.990T>G (p.Phe330Leu) c.*991T>G (n.*991T>G) n.21T>G c.487T>G (p.Trp163Gly) c.1329T>G (p.Phe443Leu) c.303T>G (p.Phe101Leu) | |
2 | g.111997391G>A | CA348231323 | MERTK | c.1519G>A (p.Gly507Ser) c.991G>A (p.Gly331Ser) c.*992G>A (n.*992G>A) n.22G>A c.488G>A (p.Trp163Ter) c.1330G>A (p.Gly444Ser) c.304G>A (p.Gly102Ser) | |
2 | g.111997391G>C | CA348231327 | MERTK | c.1519G>C (p.Gly507Arg) c.991G>C (p.Gly331Arg) c.*992G>C (n.*992G>C) n.22G>C c.488G>C (p.Trp163Ser) c.1330G>C (p.Gly444Arg) c.304G>C (p.Gly102Arg) | |
2 | g.111997391G>T | CA348231325 | MERTK | c.1519G>T (p.Gly507Cys) c.991G>T (p.Gly331Cys) c.*992G>T (n.*992G>T) n.22G>T c.488G>T (p.Trp163Leu) c.1330G>T (p.Gly444Cys) c.304G>T (p.Gly102Cys) | |
2 | g.111997392G>A | CA53574428 | MERTK | c.1520G>A (p.Gly507Asp) c.992G>A (p.Gly331Asp) c.*993G>A (n.*993G>A) n.23G>A c.489G>A (p.Trp163Ter) c.1331G>A (p.Gly444Asp) c.305G>A (p.Gly102Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.111997392G>C | CA348231329 | MERTK | c.1520G>C (p.Gly507Ala) c.992G>C (p.Gly331Ala) c.*993G>C (n.*993G>C) n.23G>C c.489G>C (p.Trp163Cys) c.1331G>C (p.Gly444Ala) c.305G>C (p.Gly102Ala) | |
2 | g.111997392G= | CA1279566561 | MERTK | c.1520G= (p.Gly507=) c.992G= (p.Gly331=) c.*993G= (n.*993G=) n.23G= c.489G= (p.Trp163=) c.1331G= (p.Gly444=) c.305G= (p.Gly102=) | |
2 | g.111997392G>T | CA348231330 | MERTK | c.1520G>T (p.Gly507Val) c.992G>T (p.Gly331Val) c.*993G>T (n.*993G>T) n.23G>T c.489G>T (p.Trp163Cys) c.1331G>T (p.Gly444Val) c.305G>T (p.Gly102Val) | gnomAD v4 |
2 | g.111997393C>A | CA348231331 | MERTK | c.1521C>A (p.Gly507=) c.993C>A (p.Gly331=) c.*994C>A (n.*994C>A) n.24C>A c.490C>A (p.Leu164Met) c.1332C>A (p.Gly444=) c.306C>A (p.Gly102=) | |
2 | g.111997393C= | CA1279566562 | MERTK | c.1521C= (p.Gly507=) c.993C= (p.Gly331=) c.*994C= (n.*994C=) n.24C= c.490C= (p.Leu164=) c.1332C= (p.Gly444=) c.306C= (p.Gly102=) | |
2 | g.111997393C>G | CA348231332 | MERTK | c.1521C>G (p.Gly507=) c.993C>G (p.Gly331=) c.*994C>G (n.*994C>G) n.24C>G c.490C>G (p.Leu164Val) c.1332C>G (p.Gly444=) c.306C>G (p.Gly102=) | |
2 | g.111997393C>T | CA428274279 | MERTK | c.1521C>T (p.Gly507=) c.993C>T (p.Gly331=) c.*994C>T (n.*994C>T) n.24C>T c.490C>T (p.Leu164=) c.1332C>T (p.Gly444=) c.306C>T (p.Gly102=) | ClinVar dbSNP gnomAD v4 |
2 | g.111997394T>A | CA348231334 | MERTK | c.1522T>A (p.Cys508Ser) c.994T>A (p.Cys332Ser) c.*995T>A (n.*995T>A) n.25T>A c.491T>A (p.Leu164Gln) c.1333T>A (p.Cys445Ser) c.307T>A (p.Cys103Ser) | |
2 | g.111997394T>C | CA348231336 | MERTK | c.1522T>C (p.Cys508Arg) c.994T>C (p.Cys332Arg) c.*995T>C (n.*995T>C) n.25T>C c.491T>C (p.Leu164Pro) c.1333T>C (p.Cys445Arg) c.307T>C (p.Cys103Arg) | |
2 | g.111997394T>G | CA348231337 | MERTK | c.1522T>G (p.Cys508Gly) c.994T>G (p.Cys332Gly) c.*995T>G (n.*995T>G) n.25T>G c.491T>G (p.Leu164Arg) c.1333T>G (p.Cys445Gly) c.307T>G (p.Cys103Gly) | |
2 | g.111997395G>A | CA348231339 | MERTK | c.1523G>A (p.Cys508Tyr) c.995G>A (p.Cys332Tyr) c.*996G>A (n.*996G>A) n.26G>A c.492G>A (p.Leu164=) c.1334G>A (p.Cys445Tyr) c.308G>A (p.Cys103Tyr) | |
2 | g.111997395G>C | CA348231341 | MERTK | c.1523G>C (p.Cys508Ser) c.995G>C (p.Cys332Ser) c.*996G>C (n.*996G>C) n.26G>C c.492G>C (p.Leu164=) c.1334G>C (p.Cys445Ser) c.308G>C (p.Cys103Ser) | |
2 | g.111997395G>T | CA348231342 | MERTK | c.1523G>T (p.Cys508Phe) c.995G>T (p.Cys332Phe) c.*996G>T (n.*996G>T) n.26G>T c.492G>T (p.Leu164=) c.1334G>T (p.Cys445Phe) c.308G>T (p.Cys103Phe) | |
2 | g.111997396C>A | CA348231347 | MERTK | c.1524C>A (p.Cys508Ter) c.996C>A (p.Cys332Ter) c.*997C>A (n.*997C>A) n.27C>A c.493C>A (p.Leu165Ile) c.1335C>A (p.Cys445Ter) c.309C>A (p.Cys103Ter) | |
2 | g.111997396C>G | CA348231344 | MERTK | c.1524C>G (p.Cys508Trp) c.996C>G (p.Cys332Trp) c.*997C>G (n.*997C>G) n.27C>G c.493C>G (p.Leu165Val) c.1335C>G (p.Cys445Trp) c.309C>G (p.Cys103Trp) | |
2 | g.111997396C>T | CA348231346 | MERTK | c.1524C>T (p.Cys508=) c.996C>T (p.Cys332=) c.*997C>T (n.*997C>T) n.27C>T c.493C>T (p.Leu165Phe) c.1335C>T (p.Cys445=) c.309C>T (p.Cys103=) | |
2 | g.111997397T>A | CA348231349 | MERTK | c.1525T>A (p.Phe509Ile) c.997T>A (p.Phe333Ile) c.*998T>A (n.*998T>A) n.28T>A c.494T>A (p.Leu165His) c.1336T>A (p.Phe446Ile) c.310T>A (p.Phe104Ile) | |
2 | g.111997397T>C | CA348231350 | MERTK | c.1525T>C (p.Phe509Leu) c.997T>C (p.Phe333Leu) c.*998T>C (n.*998T>C) n.28T>C c.494T>C (p.Leu165Pro) c.1336T>C (p.Phe446Leu) c.310T>C (p.Phe104Leu) | |
2 | g.111997397T>G | CA348231352 | MERTK | c.1525T>G (p.Phe509Val) c.997T>G (p.Phe333Val) c.*998T>G (n.*998T>G) n.28T>G c.494T>G (p.Leu165Arg) c.1336T>G (p.Phe446Val) c.310T>G (p.Phe104Val) | dbSNP |
2 | g.111997397T= | CA1279566563 | MERTK | c.1525T= (p.Phe509=) c.997T= (p.Phe333=) c.*998T= (n.*998T=) n.28T= c.494T= (p.Leu165=) c.1336T= (p.Phe446=) c.310T= (p.Phe104=) | |
2 | g.111997398T>A | CA348231354 | MERTK | c.1526T>A (p.Phe509Tyr) c.998T>A (p.Phe333Tyr) c.*999T>A (n.*999T>A) n.29T>A c.495T>A (p.Leu165=) c.1337T>A (p.Phe446Tyr) c.311T>A (p.Phe104Tyr) | |
2 | g.111997398T>C | CA348231355 | MERTK | c.1526T>C (p.Phe509Ser) c.998T>C (p.Phe333Ser) c.*999T>C (n.*999T>C) n.29T>C c.495T>C (p.Leu165=) c.1337T>C (p.Phe446Ser) c.311T>C (p.Phe104Ser) | |
2 | g.111997398T>G | CA348231357 | MERTK | c.1526T>G (p.Phe509Cys) c.998T>G (p.Phe333Cys) c.*999T>G (n.*999T>G) n.29T>G c.495T>G (p.Leu165=) c.1337T>G (p.Phe446Cys) c.311T>G (p.Phe104Cys) | |
2 | g.111997398_111997399insAC | CA2751719115 | MERTK | c.1526_1527insAC (p.Phe509LeufsTer7) c.998_999insAC (p.Phe333LeufsTer7) c.*999_*1000insAC (n.*999_*1000insAC) n.29_30insAC c.495_496insAC (p.Leu166ThrfsTer5) c.1337_1338insAC (p.Phe446LeufsTer7) c.311_312insAC (p.Phe104LeufsTer7) | |
2 | g.111997399T>A | CA348231359 | MERTK | c.1527T>A (p.Phe509Leu) c.999T>A (p.Phe333Leu) c.*1000T>A (n.*1000T>A) n.30T>A c.496T>A (p.Leu166Met) c.1338T>A (p.Phe446Leu) c.312T>A (p.Phe104Leu) | |
2 | g.111997399T>C | CA428274283 | MERTK | c.1527T>C (p.Phe509=) c.999T>C (p.Phe333=) c.*1000T>C (n.*1000T>C) n.30T>C c.496T>C (p.Leu166=) c.1338T>C (p.Phe446=) c.312T>C (p.Phe104=) | |
2 | g.111997399T>G | CA348231361 | MERTK | c.1527T>G (p.Phe509Leu) c.999T>G (p.Phe333Leu) c.*1000T>G (n.*1000T>G) n.30T>G c.496T>G (p.Leu166Val) c.1338T>G (p.Phe446Leu) c.312T>G (p.Phe104Leu) | |
2 | g.111997400T>A | CA348231363 | MERTK | c.1528T>A (p.Cys510Ser) c.1000T>A (p.Cys334Ser) c.*1001T>A (n.*1001T>A) n.31T>A c.497T>A (p.Leu166Ter) c.1339T>A (p.Cys447Ser) c.313T>A (p.Cys105Ser) | |
2 | g.111997400T>C | CA348231364 | MERTK | c.1528T>C (p.Cys510Arg) c.1000T>C (p.Cys334Arg) c.*1001T>C (n.*1001T>C) n.31T>C c.497T>C (p.Leu166Ser) c.1339T>C (p.Cys447Arg) c.313T>C (p.Cys105Arg) | |
2 | g.111997400T>G | CA348231366 | MERTK | c.1528T>G (p.Cys510Gly) c.1000T>G (p.Cys334Gly) c.*1001T>G (n.*1001T>G) n.31T>G c.497T>G (p.Leu166Trp) c.1339T>G (p.Cys447Gly) c.313T>G (p.Cys105Gly) | |
2 | g.111997401G>A | CA348231370 | MERTK | c.1529G>A (p.Cys510Tyr) c.1001G>A (p.Cys334Tyr) c.*1002G>A (n.*1002G>A) n.32G>A c.498G>A (p.Leu166=) c.1340G>A (p.Cys447Tyr) c.314G>A (p.Cys105Tyr) | dbSNP |
2 | g.111997401G>C | CA348231372 | MERTK | c.1529G>C (p.Cys510Ser) c.1001G>C (p.Cys334Ser) c.*1002G>C (n.*1002G>C) n.32G>C c.498G>C (p.Leu166Phe) c.1340G>C (p.Cys447Ser) c.314G>C (p.Cys105Ser) | |
2 | g.111997401G= | CA1279566564 | MERTK | c.1529G= (p.Cys510=) c.1001G= (p.Cys334=) c.*1002G= (n.*1002G=) n.32G= c.498G= (p.Leu166=) c.1340G= (p.Cys447=) c.314G= (p.Cys105=) | |
2 | g.111997401G>T | CA348231368 | MERTK | c.1529G>T (p.Cys510Phe) c.1001G>T (p.Cys334Phe) c.*1002G>T (n.*1002G>T) n.32G>T c.498G>T (p.Leu166Phe) c.1340G>T (p.Cys447Phe) c.314G>T (p.Cys105Phe) | |
2 | g.111997402del | CA2586969802 | MERTK | c.1530del (p.Cys510TrpfsTer5) c.1002del (p.Cys334TrpfsTer5) c.*1003del (n.*1003del) n.33del c.499del (p.Trp167GlyfsTer3) c.1341del (p.Cys447TrpfsTer5) c.315del (p.Cys105TrpfsTer5) | |
2 | g.111997402T>A | CA348231373 | MERTK | c.1530T>A (p.Cys510Ter) c.1002T>A (p.Cys334Ter) c.*1003T>A (n.*1003T>A) n.33T>A c.499T>A (p.Trp167Arg) c.1341T>A (p.Cys447Ter) c.315T>A (p.Cys105Ter) | |
2 | g.111997402T>C | CA348231374 | MERTK | c.1530T>C (p.Cys510=) c.1002T>C (p.Cys334=) c.*1003T>C (n.*1003T>C) n.33T>C c.499T>C (p.Trp167Arg) c.1341T>C (p.Cys447=) c.315T>C (p.Cys105=) | gnomAD v4 |
2 | g.111997402T>G | CA348231376 | MERTK | c.1530T>G (p.Cys510Trp) c.1002T>G (p.Cys334Trp) c.*1003T>G (n.*1003T>G) n.33T>G c.499T>G (p.Trp167Gly) c.1341T>G (p.Cys447Trp) c.315T>G (p.Cys105Trp) | |
2 | g.111997403G>A | CA348231378 | MERTK | c.1531G>A (p.Gly511Arg) c.1003G>A (p.Gly335Arg) c.*1004G>A (n.*1004G>A) n.34G>A c.500G>A (p.Trp167Ter) c.1342G>A (p.Gly448Arg) c.316G>A (p.Gly106Arg) | COSMIC COSMIC |
2 | g.111997403G>C | CA348231380 | MERTK | c.1531G>C (p.Gly511Arg) c.1003G>C (p.Gly335Arg) c.*1004G>C (n.*1004G>C) n.34G>C c.500G>C (p.Trp167Ser) c.1342G>C (p.Gly448Arg) c.316G>C (p.Gly106Arg) | |
2 | g.111997403G>T | CA348231381 | MERTK | c.1531G>T (p.Gly511Ter) c.1003G>T (p.Gly335Ter) c.*1004G>T (n.*1004G>T) n.34G>T c.500G>T (p.Trp167Leu) c.1342G>T (p.Gly448Ter) c.316G>T (p.Gly106Ter) | |
2 | g.111997404G>A | CA348231383 | MERTK | c.1532G>A (p.Gly511Glu) c.1004G>A (p.Gly335Glu) c.*1005G>A (n.*1005G>A) n.35G>A c.501G>A (p.Trp167Ter) c.1343G>A (p.Gly448Glu) c.317G>A (p.Gly106Glu) | dbSNP |
2 | g.111997404G>C | CA348231385 | MERTK | c.1532G>C (p.Gly511Ala) c.1004G>C (p.Gly335Ala) c.*1005G>C (n.*1005G>C) n.35G>C c.501G>C (p.Trp167Cys) c.1343G>C (p.Gly448Ala) c.317G>C (p.Gly106Ala) | |
2 | g.111997404G= | CA1279566565 | MERTK | c.1532G= (p.Gly511=) c.1004G= (p.Gly335=) c.*1005G= (n.*1005G=) n.35G= c.501G= (p.Trp167=) c.1343G= (p.Gly448=) c.317G= (p.Gly106=) | |
2 | g.111997404G>T | CA348231387 | MERTK | c.1532G>T (p.Gly511Val) c.1004G>T (p.Gly335Val) c.*1005G>T (n.*1005G>T) n.35G>T c.501G>T (p.Trp167Cys) c.1343G>T (p.Gly448Val) c.317G>T (p.Gly106Val) | |
2 | g.111997405A= | CA1279566566 | MERTK | c.1533A= (p.Gly511=) c.1005A= (p.Gly335=) c.*1006A= (n.*1006A=) n.36A= c.502A= (p.Ile168=) c.1344A= (p.Gly448=) c.318A= (p.Gly106=) | |
2 | g.111997405A>C | CA348231388 | MERTK | c.1533A>C (p.Gly511=) c.1005A>C (p.Gly335=) c.*1006A>C (n.*1006A>C) n.36A>C c.502A>C (p.Ile168Leu) c.1344A>C (p.Gly448=) c.318A>C (p.Gly106=) | |
2 | g.111997405A>G | CA1831453 | MERTK | c.1533A>G (p.Gly511=) c.1005A>G (p.Gly335=) c.*1006A>G (n.*1006A>G) n.36A>G c.502A>G (p.Ile168Val) c.1344A>G (p.Gly448=) c.318A>G (p.Gly106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.111997405A>T | CA348231391 | MERTK | c.1533A>T (p.Gly511=) c.1005A>T (p.Gly335=) c.*1006A>T (n.*1006A>T) n.36A>T c.502A>T (p.Ile168Phe) c.1344A>T (p.Gly448=) c.318A>T (p.Gly106=) | |
2 | g.111997406T>A | CA348231394 | MERTK | c.1534T>A (p.Phe512Ile) c.1006T>A (p.Phe336Ile) c.*1007T>A (n.*1007T>A) n.37T>A c.503T>A (p.Ile168Asn) c.1345T>A (p.Phe449Ile) c.319T>A (p.Phe107Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.111997406T>C | CA348231396 | MERTK | c.1534T>C (p.Phe512Leu) c.1006T>C (p.Phe336Leu) c.*1007T>C (n.*1007T>C) n.37T>C c.503T>C (p.Ile168Thr) c.1345T>C (p.Phe449Leu) c.319T>C (p.Phe107Leu) | COSMIC COSMIC |
2 | g.111997406T>G | CA348231393 | MERTK | c.1534T>G (p.Phe512Val) c.1006T>G (p.Phe336Val) c.*1007T>G (n.*1007T>G) n.37T>G c.503T>G (p.Ile168Ser) c.1345T>G (p.Phe449Val) c.319T>G (p.Phe107Val) | |
2 | g.111997406T= | CA1279566567 | MERTK | c.1534T= (p.Phe512=) c.1006T= (p.Phe336=) c.*1007T= (n.*1007T=) n.37T= c.503T= (p.Ile168=) c.1345T= (p.Phe449=) c.319T= (p.Phe107=) | |
2 | g.111997407T>A | CA348231398 | MERTK | c.1535T>A (p.Phe512Tyr) c.1007T>A (p.Phe336Tyr) c.*1008T>A (n.*1008T>A) n.38T>A c.504T>A (p.Ile168=) c.1346T>A (p.Phe449Tyr) c.320T>A (p.Phe107Tyr) | |
2 | g.111997407T>C | CA348231400 | MERTK | c.1535T>C (p.Phe512Ser) c.1007T>C (p.Phe336Ser) c.*1008T>C (n.*1008T>C) n.38T>C c.504T>C (p.Ile168=) c.1346T>C (p.Phe449Ser) c.320T>C (p.Phe107Ser) | |
2 | g.111997407T>G | CA348231401 | MERTK | c.1535T>G (p.Phe512Cys) c.1007T>G (p.Phe336Cys) c.*1008T>G (n.*1008T>G) n.38T>G c.504T>G (p.Ile168Met) c.1346T>G (p.Phe449Cys) c.320T>G (p.Phe107Cys) |