| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.116759409_116759424del | CA2553843586 | MET | c.2283_2298del (p.Gly762Ter) c.2264+789_2264+804del (n.2264+789_2264+804del) c.2337_2352del (p.Gly780Ter) c.123_138del (p.Gly42Ter) c.993_1008del (p.Gly332Ter) c.2340_2355del (p.Gly781Ter) n.2495+789_2495+804del | |
| 7 | g.116759413G>A | CA368982033 | MET | c.2287G>A (p.Val763Ile) c.2264+793G>A (n.2264+793G>A) c.2341G>A (p.Val781Ile) c.127G>A (p.Val43Ile) c.997G>A (p.Val333Ile) c.2344G>A (p.Val782Ile) n.2495+793G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116759413G>C | CA368982034 | MET | c.2287G>C (p.Val763Leu) c.2264+793G>C (n.2264+793G>C) c.2341G>C (p.Val781Leu) c.127G>C (p.Val43Leu) c.997G>C (p.Val333Leu) c.2344G>C (p.Val782Leu) n.2495+793G>C | dbSNP |
| 7 | g.116759413G>T | CA368982035 | MET | c.2287G>T (p.Val763Phe) c.2264+793G>T (n.2264+793G>T) c.2341G>T (p.Val781Phe) c.127G>T (p.Val43Phe) c.997G>T (p.Val333Phe) c.2344G>T (p.Val782Phe) n.2495+793G>T | |
| 7 | g.116759414T>A | CA368982036 | MET | c.2288T>A (p.Val763Asp) c.2264+794T>A (n.2264+794T>A) c.2342T>A (p.Val781Asp) c.128T>A (p.Val43Asp) c.998T>A (p.Val333Asp) c.2345T>A (p.Val782Asp) n.2495+794T>A | dbSNP |
| 7 | g.116759414T>C | CA368982038 | MET | c.2288T>C (p.Val763Ala) c.2264+794T>C (n.2264+794T>C) c.2342T>C (p.Val781Ala) c.128T>C (p.Val43Ala) c.998T>C (p.Val333Ala) c.2345T>C (p.Val782Ala) n.2495+794T>C | dbSNP |
| 7 | g.116759414T>G | CA368982039 | MET | c.2288T>G (p.Val763Gly) c.2264+794T>G (n.2264+794T>G) c.2342T>G (p.Val781Gly) c.128T>G (p.Val43Gly) c.998T>G (p.Val333Gly) c.2345T>G (p.Val782Gly) n.2495+794T>G | dbSNP |
| 7 | g.116759415T>A | CA457217222 | MET | c.2289T>A (p.Val763=) c.2264+795T>A (n.2264+795T>A) c.2343T>A (p.Val781=) c.129T>A (p.Val43=) c.999T>A (p.Val333=) c.2346T>A (p.Val782=) n.2495+795T>A | |
| 7 | g.116759415T>C | CA457217224 | MET | c.2289T>C (p.Val763=) c.2264+795T>C (n.2264+795T>C) c.2343T>C (p.Val781=) c.129T>C (p.Val43=) c.999T>C (p.Val333=) c.2346T>C (p.Val782=) n.2495+795T>C | |
| 7 | g.116759415T>G | CA457217225 | MET | c.2289T>G (p.Val763=) c.2264+795T>G (n.2264+795T>G) c.2343T>G (p.Val781=) c.129T>G (p.Val43=) c.999T>G (p.Val333=) c.2346T>G (p.Val782=) n.2495+795T>G | |
| 7 | g.116759416G>A | CA368982044 | MET | c.2290G>A (p.Gly764Arg) c.2264+796G>A (n.2264+796G>A) c.2344G>A (p.Gly782Arg) c.130G>A (p.Gly44Arg) c.1000G>A (p.Gly334Arg) c.2347G>A (p.Gly783Arg) n.2495+796G>A | dbSNP |
| 7 | g.116759416G>C | CA368982049 | MET | c.2290G>C (p.Gly764Arg) c.2264+796G>C (n.2264+796G>C) c.2344G>C (p.Gly782Arg) c.130G>C (p.Gly44Arg) c.1000G>C (p.Gly334Arg) c.2347G>C (p.Gly783Arg) n.2495+796G>C | dbSNP |
| 7 | g.116759416G>T | CA368982051 | MET | c.2290G>T (p.Gly764Trp) c.2264+796G>T (n.2264+796G>T) c.2344G>T (p.Gly782Trp) c.130G>T (p.Gly44Trp) c.1000G>T (p.Gly334Trp) c.2347G>T (p.Gly783Trp) n.2495+796G>T | |
| 7 | g.116759418dup | CA2684591313 | MET | c.2292dup (p.Lys765GlufsTer7) c.2264+798dup (n.2264+798dup) c.2346dup (p.Lys783GlufsTer7) c.132dup (p.Lys45GlufsTer7) c.1002dup (p.Lys335GlufsTer7) c.2349dup (p.Lys784GlufsTer7) n.2495+798dup | gnomAD v4 |
| 7 | g.116759417G>A | CA368982055 | MET | c.2291G>A (p.Gly764Glu) c.2264+797G>A (n.2264+797G>A) c.2345G>A (p.Gly782Glu) c.131G>A (p.Gly44Glu) c.1001G>A (p.Gly334Glu) c.2348G>A (p.Gly783Glu) n.2495+797G>A | dbSNP |
| 7 | g.116759417G>C | CA368982058 | MET | c.2291G>C (p.Gly764Ala) c.2264+797G>C (n.2264+797G>C) c.2345G>C (p.Gly782Ala) c.131G>C (p.Gly44Ala) c.1001G>C (p.Gly334Ala) c.2348G>C (p.Gly783Ala) n.2495+797G>C | dbSNP |
| 7 | g.116759417G>T | CA368982060 | MET | c.2291G>T (p.Gly764Val) c.2264+797G>T (n.2264+797G>T) c.2345G>T (p.Gly782Val) c.131G>T (p.Gly44Val) c.1001G>T (p.Gly334Val) c.2348G>T (p.Gly783Val) n.2495+797G>T | dbSNP |
| 7 | g.116759418G>A | CA457217227 | MET | c.2292G>A (p.Gly764=) c.2264+798G>A (n.2264+798G>A) c.2346G>A (p.Gly782=) c.132G>A (p.Gly44=) c.1002G>A (p.Gly334=) c.2349G>A (p.Gly783=) n.2495+798G>A | dbSNP |
| 7 | g.116759418G>C | CA457217232 | MET | c.2292G>C (p.Gly764=) c.2264+798G>C (n.2264+798G>C) c.2346G>C (p.Gly782=) c.132G>C (p.Gly44=) c.1002G>C (p.Gly334=) c.2349G>C (p.Gly783=) n.2495+798G>C | dbSNP |
| 7 | g.116759418G>T | CA457217229 | MET | c.2292G>T (p.Gly764=) c.2264+798G>T (n.2264+798G>T) c.2346G>T (p.Gly782=) c.132G>T (p.Gly44=) c.1002G>T (p.Gly334=) c.2349G>T (p.Gly783=) n.2495+798G>T | |
| 7 | g.116759419A= | CA1737025344 | MET | c.2293A= (p.Lys765=) c.2264+799A= (n.2264+799A=) c.2347A= (p.Lys783=) c.133A= (p.Lys45=) c.1003A= (p.Lys335=) c.2350A= (p.Lys784=) n.2495+799A= | |
| 7 | g.116759419A>C | CA368982071 | MET | c.2293A>C (p.Lys765Gln) c.2264+799A>C (n.2264+799A>C) c.2347A>C (p.Lys783Gln) c.133A>C (p.Lys45Gln) c.1003A>C (p.Lys335Gln) c.2350A>C (p.Lys784Gln) n.2495+799A>C | |
| 7 | g.116759419A>G | CA368982069 | MET | c.2293A>G (p.Lys765Glu) c.2264+799A>G (n.2264+799A>G) c.2347A>G (p.Lys783Glu) c.133A>G (p.Lys45Glu) c.1003A>G (p.Lys335Glu) c.2350A>G (p.Lys784Glu) n.2495+799A>G | ClinVar dbSNP |
| 7 | g.116759419A>T | CA368982065 | MET | c.2293A>T (p.Lys765Ter) c.2264+799A>T (n.2264+799A>T) c.2347A>T (p.Lys783Ter) c.133A>T (p.Lys45Ter) c.1003A>T (p.Lys335Ter) c.2350A>T (p.Lys784Ter) n.2495+799A>T | dbSNP |
| 7 | g.116759420A>C | CA368982076 | MET | c.2294A>C (p.Lys765Thr) c.2264+800A>C (n.2264+800A>C) c.2348A>C (p.Lys783Thr) c.134A>C (p.Lys45Thr) c.1004A>C (p.Lys335Thr) c.2351A>C (p.Lys784Thr) n.2495+800A>C | |
| 7 | g.116759420A>G | CA368982078 | MET | c.2294A>G (p.Lys765Arg) c.2264+800A>G (n.2264+800A>G) c.2348A>G (p.Lys783Arg) c.134A>G (p.Lys45Arg) c.1004A>G (p.Lys335Arg) c.2351A>G (p.Lys784Arg) n.2495+800A>G | |
| 7 | g.116759420A>T | CA368982081 | MET | c.2294A>T (p.Lys765Ile) c.2264+800A>T (n.2264+800A>T) c.2348A>T (p.Lys783Ile) c.134A>T (p.Lys45Ile) c.1004A>T (p.Lys335Ile) c.2351A>T (p.Lys784Ile) n.2495+800A>T | |
| 7 | g.116759421A>C | CA368982085 | MET | c.2295A>C (p.Lys765Asn) c.2264+801A>C (n.2264+801A>C) c.2349A>C (p.Lys783Asn) c.135A>C (p.Lys45Asn) c.1005A>C (p.Lys335Asn) c.2352A>C (p.Lys784Asn) n.2495+801A>C | |
| 7 | g.116759421A>G | CA457217237 | MET | c.2295A>G (p.Lys765=) c.2264+801A>G (n.2264+801A>G) c.2349A>G (p.Lys783=) c.135A>G (p.Lys45=) c.1005A>G (p.Lys335=) c.2352A>G (p.Lys784=) n.2495+801A>G | |
| 7 | g.116759421A>T | CA368982088 | MET | c.2295A>T (p.Lys765Asn) c.2264+801A>T (n.2264+801A>T) c.2349A>T (p.Lys783Asn) c.135A>T (p.Lys45Asn) c.1005A>T (p.Lys335Asn) c.2352A>T (p.Lys784Asn) n.2495+801A>T | |
| 7 | g.116759422A>C | CA368982093 | MET | c.2296A>C (p.Asn766His) c.2264+802A>C (n.2264+802A>C) c.2350A>C (p.Asn784His) c.136A>C (p.Asn46His) c.1006A>C (p.Asn336His) c.2353A>C (p.Asn785His) n.2495+802A>C | |
| 7 | g.116759422A>G | CA368982097 | MET | c.2296A>G (p.Asn766Asp) c.2264+802A>G (n.2264+802A>G) c.2350A>G (p.Asn784Asp) c.136A>G (p.Asn46Asp) c.1006A>G (p.Asn336Asp) c.2353A>G (p.Asn785Asp) n.2495+802A>G | |
| 7 | g.116759422A>T | CA368982100 | MET | c.2296A>T (p.Asn766Tyr) c.2264+802A>T (n.2264+802A>T) c.2350A>T (p.Asn784Tyr) c.136A>T (p.Asn46Tyr) c.1006A>T (p.Asn336Tyr) c.2353A>T (p.Asn785Tyr) n.2495+802A>T | dbSNP |
| 7 | g.116759423A>C | CA368982112 | MET | c.2297A>C (p.Asn766Thr) c.2264+803A>C (n.2264+803A>C) c.2351A>C (p.Asn784Thr) c.137A>C (p.Asn46Thr) c.1007A>C (p.Asn336Thr) c.2354A>C (p.Asn785Thr) n.2495+803A>C | dbSNP |
| 7 | g.116759423A>G | CA368982115 | MET | c.2297A>G (p.Asn766Ser) c.2264+803A>G (n.2264+803A>G) c.2351A>G (p.Asn784Ser) c.137A>G (p.Asn46Ser) c.1007A>G (p.Asn336Ser) c.2354A>G (p.Asn785Ser) n.2495+803A>G | |
| 7 | g.116759423A>T | CA368982125 | MET | c.2297A>T (p.Asn766Ile) c.2264+803A>T (n.2264+803A>T) c.2351A>T (p.Asn784Ile) c.137A>T (p.Asn46Ile) c.1007A>T (p.Asn336Ile) c.2354A>T (p.Asn785Ile) n.2495+803A>T | dbSNP |
| 7 | g.116759424C>A | CA368982134 | MET | c.2298C>A (p.Asn766Lys) c.2264+804C>A (n.2264+804C>A) c.2352C>A (p.Asn784Lys) c.138C>A (p.Asn46Lys) c.1008C>A (p.Asn336Lys) c.2355C>A (p.Asn785Lys) n.2495+804C>A | ClinVar |
| 7 | g.116759424C>G | CA368982136 | MET | c.2298C>G (p.Asn766Lys) c.2264+804C>G (n.2264+804C>G) c.2352C>G (p.Asn784Lys) c.138C>G (p.Asn46Lys) c.1008C>G (p.Asn336Lys) c.2355C>G (p.Asn785Lys) n.2495+804C>G | gnomAD v4 |
| 7 | g.116759424C>T | CA457217245 | MET | c.2298C>T (p.Asn766=) c.2264+804C>T (n.2264+804C>T) c.2352C>T (p.Asn784=) c.138C>T (p.Asn46=) c.1008C>T (p.Asn336=) c.2355C>T (p.Asn785=) n.2495+804C>T | gnomAD v4 |
| 7 | g.116759425C>A | CA368982149 | MET | c.2299C>A (p.Leu767Met) c.2264+805C>A (n.2264+805C>A) c.2353C>A (p.Leu785Met) c.139C>A (p.Leu47Met) c.1009C>A (p.Leu337Met) c.2356C>A (p.Leu786Met) n.2495+805C>A | dbSNP |
| 7 | g.116759425C= | CA1737025353 | MET | c.2299C= (p.Leu767=) c.2264+805C= (n.2264+805C=) c.2353C= (p.Leu785=) c.139C= (p.Leu47=) c.1009C= (p.Leu337=) c.2356C= (p.Leu786=) n.2495+805C= | |
| 7 | g.116759425C>G | CA368982152 | MET | c.2299C>G (p.Leu767Val) c.2264+805C>G (n.2264+805C>G) c.2353C>G (p.Leu785Val) c.139C>G (p.Leu47Val) c.1009C>G (p.Leu337Val) c.2356C>G (p.Leu786Val) n.2495+805C>G | ClinVar dbSNP |
| 7 | g.116759425C>T | CA457217247 | MET | c.2299C>T (p.Leu767=) c.2264+805C>T (n.2264+805C>T) c.2353C>T (p.Leu785=) c.139C>T (p.Leu47=) c.1009C>T (p.Leu337=) c.2356C>T (p.Leu786=) n.2495+805C>T | dbSNP |
| 7 | g.116759426T>A | CA368982164 | MET | c.2300T>A (p.Leu767Gln) c.2264+806T>A (n.2264+806T>A) c.2354T>A (p.Leu785Gln) c.140T>A (p.Leu47Gln) c.1010T>A (p.Leu337Gln) c.2357T>A (p.Leu786Gln) n.2495+806T>A | dbSNP |
| 7 | g.116759426T>C | CA368982169 | MET | c.2300T>C (p.Leu767Pro) c.2264+806T>C (n.2264+806T>C) c.2354T>C (p.Leu785Pro) c.140T>C (p.Leu47Pro) c.1010T>C (p.Leu337Pro) c.2357T>C (p.Leu786Pro) n.2495+806T>C | dbSNP |
| 7 | g.116759426T>G | CA368982166 | MET | c.2300T>G (p.Leu767Arg) c.2264+806T>G (n.2264+806T>G) c.2354T>G (p.Leu785Arg) c.140T>G (p.Leu47Arg) c.1010T>G (p.Leu337Arg) c.2357T>G (p.Leu786Arg) n.2495+806T>G | |
| 7 | g.116759427G>A | CA457217248 | MET | c.2301G>A (p.Leu767=) c.2264+807G>A (n.2264+807G>A) c.2355G>A (p.Leu785=) c.141G>A (p.Leu47=) c.1011G>A (p.Leu337=) c.2358G>A (p.Leu786=) n.2495+807G>A | dbSNP |
| 7 | g.116759427G>C | CA457217249 | MET | c.2301G>C (p.Leu767=) c.2264+807G>C (n.2264+807G>C) c.2355G>C (p.Leu785=) c.141G>C (p.Leu47=) c.1011G>C (p.Leu337=) c.2358G>C (p.Leu786=) n.2495+807G>C | dbSNP |
| 7 | g.116759427G>T | CA457217251 | MET | c.2301G>T (p.Leu767=) c.2264+807G>T (n.2264+807G>T) c.2355G>T (p.Leu785=) c.141G>T (p.Leu47=) c.1011G>T (p.Leu337=) c.2358G>T (p.Leu786=) n.2495+807G>T | |
| 7 | g.116759428A= | CA1737025358 | MET | c.2302A= (p.Asn768=) c.2264+808A= (n.2264+808A=) c.2356A= (p.Asn786=) c.142A= (p.Asn48=) c.1012A= (p.Asn338=) c.2359A= (p.Asn787=) n.2495+808A= | |
| 7 | g.116759428A>C | CA368982173 | MET | c.2302A>C (p.Asn768His) c.2264+808A>C (n.2264+808A>C) c.2356A>C (p.Asn786His) c.142A>C (p.Asn48His) c.1012A>C (p.Asn338His) c.2359A>C (p.Asn787His) n.2495+808A>C | |
| 7 | g.116759428A>G | CA164895013 | MET | c.2302A>G (p.Asn768Asp) c.2264+808A>G (n.2264+808A>G) c.2356A>G (p.Asn786Asp) c.142A>G (p.Asn48Asp) c.1012A>G (p.Asn338Asp) c.2359A>G (p.Asn787Asp) n.2495+808A>G | dbSNP |
| 7 | g.116759428A>T | CA368982180 | MET | c.2302A>T (p.Asn768Tyr) c.2264+808A>T (n.2264+808A>T) c.2356A>T (p.Asn786Tyr) c.142A>T (p.Asn48Tyr) c.1012A>T (p.Asn338Tyr) c.2359A>T (p.Asn787Tyr) n.2495+808A>T | dbSNP |
| 7 | g.116759429A= | CA1737025367 | MET | c.2303A= (p.Asn768=) c.2264+809A= (n.2264+809A=) c.2357A= (p.Asn786=) c.143A= (p.Asn48=) c.1013A= (p.Asn338=) c.2360A= (p.Asn787=) n.2495+809A= | |
| 7 | g.116759429A>C | CA368982185 | MET | c.2303A>C (p.Asn768Thr) c.2264+809A>C (n.2264+809A>C) c.2357A>C (p.Asn786Thr) c.143A>C (p.Asn48Thr) c.1013A>C (p.Asn338Thr) c.2360A>C (p.Asn787Thr) n.2495+809A>C | dbSNP |
| 7 | g.116759429A>G | CA4448449 | MET | c.2303A>G (p.Asn768Ser) c.2264+809A>G (n.2264+809A>G) c.2357A>G (p.Asn786Ser) c.143A>G (p.Asn48Ser) c.1013A>G (p.Asn338Ser) c.2360A>G (p.Asn787Ser) n.2495+809A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116759429A>T | CA368982194 | MET | c.2303A>T (p.Asn768Ile) c.2264+809A>T (n.2264+809A>T) c.2357A>T (p.Asn786Ile) c.143A>T (p.Asn48Ile) c.1013A>T (p.Asn338Ile) c.2360A>T (p.Asn787Ile) n.2495+809A>T | |
| 7 | g.116759430T>A | CA368982205 | MET | c.2304T>A (p.Asn768Lys) c.2264+810T>A (n.2264+810T>A) c.2358T>A (p.Asn786Lys) c.144T>A (p.Asn48Lys) c.1014T>A (p.Asn338Lys) c.2361T>A (p.Asn787Lys) n.2495+810T>A | dbSNP |
| 7 | g.116759430T>C | CA457217254 | MET | c.2304T>C (p.Asn768=) c.2264+810T>C (n.2264+810T>C) c.2358T>C (p.Asn786=) c.144T>C (p.Asn48=) c.1014T>C (p.Asn338=) c.2361T>C (p.Asn787=) n.2495+810T>C | ClinVar dbSNP |
| 7 | g.116759430T>G | CA368982206 | MET | c.2304T>G (p.Asn768Lys) c.2264+810T>G (n.2264+810T>G) c.2358T>G (p.Asn786Lys) c.144T>G (p.Asn48Lys) c.1014T>G (p.Asn338Lys) c.2361T>G (p.Asn787Lys) n.2495+810T>G | |
| 7 | g.116759431T>A | CA368982210 | MET | c.2305T>A (p.Ser769Thr) c.2264+811T>A (n.2264+811T>A) c.2359T>A (p.Ser787Thr) c.145T>A (p.Ser49Thr) c.1015T>A (p.Ser339Thr) c.2362T>A (p.Ser788Thr) n.2495+811T>A | dbSNP |
| 7 | g.116759431T>C | CA368982214 | MET | c.2305T>C (p.Ser769Pro) c.2264+811T>C (n.2264+811T>C) c.2359T>C (p.Ser787Pro) c.145T>C (p.Ser49Pro) c.1015T>C (p.Ser339Pro) c.2362T>C (p.Ser788Pro) n.2495+811T>C | |
| 7 | g.116759431T>G | CA368982218 | MET | c.2305T>G (p.Ser769Ala) c.2264+811T>G (n.2264+811T>G) c.2359T>G (p.Ser787Ala) c.145T>G (p.Ser49Ala) c.1015T>G (p.Ser339Ala) c.2362T>G (p.Ser788Ala) n.2495+811T>G | |
| 7 | g.116759432C>A | CA368982243 | MET | c.2306C>A (p.Ser769Ter) c.2264+812C>A (n.2264+812C>A) c.2360C>A (p.Ser787Ter) c.146C>A (p.Ser49Ter) c.1016C>A (p.Ser339Ter) c.2363C>A (p.Ser788Ter) n.2495+812C>A | dbSNP |
| 7 | g.116759432C>G | CA368982233 | MET | c.2306C>G (p.Ser769Ter) c.2264+812C>G (n.2264+812C>G) c.2360C>G (p.Ser787Ter) c.146C>G (p.Ser49Ter) c.1016C>G (p.Ser339Ter) c.2363C>G (p.Ser788Ter) n.2495+812C>G | dbSNP |
| 7 | g.116759432C>T | CA368982222 | MET | c.2306C>T (p.Ser769Leu) c.2264+812C>T (n.2264+812C>T) c.2360C>T (p.Ser787Leu) c.146C>T (p.Ser49Leu) c.1016C>T (p.Ser339Leu) c.2363C>T (p.Ser788Leu) n.2495+812C>T | dbSNP |
| 7 | g.116759433A>C | CA457217260 | MET | c.2307A>C (p.Ser769=) c.2264+813A>C (n.2264+813A>C) c.2361A>C (p.Ser787=) c.147A>C (p.Ser49=) c.1017A>C (p.Ser339=) c.2364A>C (p.Ser788=) n.2495+813A>C | |
| 7 | g.116759433A>G | CA457217258 | MET | c.2307A>G (p.Ser769=) c.2264+813A>G (n.2264+813A>G) c.2361A>G (p.Ser787=) c.147A>G (p.Ser49=) c.1017A>G (p.Ser339=) c.2364A>G (p.Ser788=) n.2495+813A>G | ClinVar dbSNP |
| 7 | g.116759433A>T | CA457217259 | MET | c.2307A>T (p.Ser769=) c.2264+813A>T (n.2264+813A>T) c.2361A>T (p.Ser787=) c.147A>T (p.Ser49=) c.1017A>T (p.Ser339=) c.2364A>T (p.Ser788=) n.2495+813A>T | dbSNP |
| 7 | g.116759434G>A | CA368982246 | MET | c.2308G>A (p.Val770Ile) c.2264+814G>A (n.2264+814G>A) c.2362G>A (p.Val788Ile) c.148G>A (p.Val50Ile) c.1018G>A (p.Val340Ile) c.2365G>A (p.Val789Ile) n.2495+814G>A | ClinVar gnomAD v4 |
| 7 | g.116759434G>C | CA368982248 | MET | c.2308G>C (p.Val770Leu) c.2264+814G>C (n.2264+814G>C) c.2362G>C (p.Val788Leu) c.148G>C (p.Val50Leu) c.1018G>C (p.Val340Leu) c.2365G>C (p.Val789Leu) n.2495+814G>C | |
| 7 | g.116759434G>T | CA368982250 | MET | c.2308G>T (p.Val770Phe) c.2264+814G>T (n.2264+814G>T) c.2362G>T (p.Val788Phe) c.148G>T (p.Val50Phe) c.1018G>T (p.Val340Phe) c.2365G>T (p.Val789Phe) n.2495+814G>T | |
| 7 | g.116759435T>A | CA368982254 | MET | c.2309T>A (p.Val770Asp) c.2264+815T>A (n.2264+815T>A) c.2363T>A (p.Val788Asp) c.149T>A (p.Val50Asp) c.1019T>A (p.Val340Asp) c.2366T>A (p.Val789Asp) n.2495+815T>A | dbSNP |
| 7 | g.116759435T>C | CA368982257 | MET | c.2309T>C (p.Val770Ala) c.2264+815T>C (n.2264+815T>C) c.2363T>C (p.Val788Ala) c.149T>C (p.Val50Ala) c.1019T>C (p.Val340Ala) c.2366T>C (p.Val789Ala) n.2495+815T>C | |
| 7 | g.116759435T>G | CA368982260 | MET | c.2309T>G (p.Val770Gly) c.2264+815T>G (n.2264+815T>G) c.2363T>G (p.Val788Gly) c.149T>G (p.Val50Gly) c.1019T>G (p.Val340Gly) c.2366T>G (p.Val789Gly) n.2495+815T>G | |
| 7 | g.116759436T>A | CA457217262 | MET | c.2310T>A (p.Val770=) c.2264+816T>A (n.2264+816T>A) c.2364T>A (p.Val788=) c.150T>A (p.Val50=) c.1020T>A (p.Val340=) c.2367T>A (p.Val789=) n.2495+816T>A | dbSNP |
| 7 | g.116759436T>C | CA457217263 | MET | c.2310T>C (p.Val770=) c.2264+816T>C (n.2264+816T>C) c.2364T>C (p.Val788=) c.150T>C (p.Val50=) c.1020T>C (p.Val340=) c.2367T>C (p.Val789=) n.2495+816T>C | dbSNP |
| 7 | g.116759436T>G | CA457217264 | MET | c.2310T>G (p.Val770=) c.2264+816T>G (n.2264+816T>G) c.2364T>G (p.Val788=) c.150T>G (p.Val50=) c.1020T>G (p.Val340=) c.2367T>G (p.Val789=) n.2495+816T>G | |
| 7 | g.116759437A>C | CA368982272 | MET | c.2311A>C (p.Ser771Arg) c.2264+817A>C (n.2264+817A>C) c.2365A>C (p.Ser789Arg) c.151A>C (p.Ser51Arg) c.1021A>C (p.Ser341Arg) c.2368A>C (p.Ser790Arg) n.2495+817A>C | |
| 7 | g.116759437A>G | CA368982275 | MET | c.2311A>G (p.Ser771Gly) c.2264+817A>G (n.2264+817A>G) c.2365A>G (p.Ser789Gly) c.151A>G (p.Ser51Gly) c.1021A>G (p.Ser341Gly) c.2368A>G (p.Ser790Gly) n.2495+817A>G | ClinVar |
| 7 | g.116759437A>T | CA368982282 | MET | c.2311A>T (p.Ser771Cys) c.2264+817A>T (n.2264+817A>T) c.2365A>T (p.Ser789Cys) c.151A>T (p.Ser51Cys) c.1021A>T (p.Ser341Cys) c.2368A>T (p.Ser790Cys) n.2495+817A>T | dbSNP |
| 7 | g.116759437_116759440del | CA2573141518 | MET | c.2311_2314del (p.Val772ArgfsTer5) c.2264+817_2264+820del (n.2264+817_2264+820del) c.2365_2368del (p.Val790ArgfsTer5) c.151_154del (p.Val52ArgfsTer5) c.1021_1024del (p.Val342ArgfsTer5) c.2368_2371del (p.Val791ArgfsTer5) n.2495+817_2495+820del | ClinVar dbSNP |
| 7 | g.116759438G>A | CA368982288 | MET | c.2312G>A (p.Ser771Asn) c.2264+818G>A (n.2264+818G>A) c.2366G>A (p.Ser789Asn) c.152G>A (p.Ser51Asn) c.1022G>A (p.Ser341Asn) c.2369G>A (p.Ser790Asn) n.2495+818G>A | ClinVar dbSNP |
| 7 | g.116759438G>C | CA368982290 | MET | c.2312G>C (p.Ser771Thr) c.2264+818G>C (n.2264+818G>C) c.2366G>C (p.Ser789Thr) c.152G>C (p.Ser51Thr) c.1022G>C (p.Ser341Thr) c.2369G>C (p.Ser790Thr) n.2495+818G>C | dbSNP |
| 7 | g.116759438G>T | CA368982292 | MET | c.2312G>T (p.Ser771Ile) c.2264+818G>T (n.2264+818G>T) c.2366G>T (p.Ser789Ile) c.152G>T (p.Ser51Ile) c.1022G>T (p.Ser341Ile) c.2369G>T (p.Ser790Ile) n.2495+818G>T | dbSNP |
| 7 | g.116759438_116759441del | CA2573141519 | MET | c.2312_2315del (p.Ser771ThrfsTer6) c.2264+818_2264+821del (n.2264+818_2264+821del) c.2366_2369del (p.Ser789ThrfsTer6) c.152_155del (p.Ser51ThrfsTer6) c.1022_1025del (p.Ser341ThrfsTer6) c.2369_2372del (p.Ser790ThrfsTer6) n.2495+818_2495+821del | ClinVar dbSNP |
| 7 | g.116759439T>A | CA368982298 | MET | c.2313T>A (p.Ser771Arg) c.2264+819T>A (n.2264+819T>A) c.2367T>A (p.Ser789Arg) c.153T>A (p.Ser51Arg) c.1023T>A (p.Ser341Arg) c.2370T>A (p.Ser790Arg) n.2495+819T>A | dbSNP |
| 7 | g.116759439T>C | CA457217272 | MET | c.2313T>C (p.Ser771=) c.2264+819T>C (n.2264+819T>C) c.2367T>C (p.Ser789=) c.153T>C (p.Ser51=) c.1023T>C (p.Ser341=) c.2370T>C (p.Ser790=) n.2495+819T>C | |
| 7 | g.116759439T>G | CA368982296 | MET | c.2313T>G (p.Ser771Arg) c.2264+819T>G (n.2264+819T>G) c.2367T>G (p.Ser789Arg) c.153T>G (p.Ser51Arg) c.1023T>G (p.Ser341Arg) c.2370T>G (p.Ser790Arg) n.2495+819T>G | |
| 7 | g.116759440G>A | CA368982300 | MET | c.2314G>A (p.Val772Ile) c.2264+820G>A (n.2264+820G>A) c.2368G>A (p.Val790Ile) c.154G>A (p.Val52Ile) c.1024G>A (p.Val342Ile) c.2371G>A (p.Val791Ile) n.2495+820G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116759440G>C | CA368982302 | MET | c.2314G>C (p.Val772Leu) c.2264+820G>C (n.2264+820G>C) c.2368G>C (p.Val790Leu) c.154G>C (p.Val52Leu) c.1024G>C (p.Val342Leu) c.2371G>C (p.Val791Leu) n.2495+820G>C | dbSNP |
| 7 | g.116759440G>T | CA368982304 | MET | c.2314G>T (p.Val772Phe) c.2264+820G>T (n.2264+820G>T) c.2368G>T (p.Val790Phe) c.154G>T (p.Val52Phe) c.1024G>T (p.Val342Phe) c.2371G>T (p.Val791Phe) n.2495+820G>T | |
| 7 | g.116759441T>A | CA368982310 | MET | c.2315T>A (p.Val772Asp) c.2264+821T>A (n.2264+821T>A) c.2369T>A (p.Val790Asp) c.155T>A (p.Val52Asp) c.1025T>A (p.Val342Asp) c.2372T>A (p.Val791Asp) n.2495+821T>A | dbSNP |
| 7 | g.116759441T>C | CA368982311 | MET | c.2315T>C (p.Val772Ala) c.2264+821T>C (n.2264+821T>C) c.2369T>C (p.Val790Ala) c.155T>C (p.Val52Ala) c.1025T>C (p.Val342Ala) c.2372T>C (p.Val791Ala) n.2495+821T>C | |
| 7 | g.116759441T>G | CA368982312 | MET | c.2315T>G (p.Val772Gly) c.2264+821T>G (n.2264+821T>G) c.2369T>G (p.Val790Gly) c.155T>G (p.Val52Gly) c.1025T>G (p.Val342Gly) c.2372T>G (p.Val791Gly) n.2495+821T>G | |
| 7 | g.116759442C>A | CA457217274 | MET | c.2316C>A (p.Val772=) c.2264+822C>A (n.2264+822C>A) c.2370C>A (p.Val790=) c.156C>A (p.Val52=) c.1026C>A (p.Val342=) c.2373C>A (p.Val791=) n.2495+822C>A | dbSNP |
| 7 | g.116759442C= | CA1737025378 | MET | c.2316C= (p.Val772=) c.2264+822C= (n.2264+822C=) c.2370C= (p.Val790=) c.156C= (p.Val52=) c.1026C= (p.Val342=) c.2373C= (p.Val791=) n.2495+822C= | |
| 7 | g.116759442C>G | CA457217276 | MET | c.2316C>G (p.Val772=) c.2264+822C>G (n.2264+822C>G) c.2370C>G (p.Val790=) c.156C>G (p.Val52=) c.1026C>G (p.Val342=) c.2373C>G (p.Val791=) n.2495+822C>G | dbSNP |
| 7 | g.116759442C>T | CA457217280 | MET | c.2316C>T (p.Val772=) c.2264+822C>T (n.2264+822C>T) c.2370C>T (p.Val790=) c.156C>T (p.Val52=) c.1026C>T (p.Val342=) c.2373C>T (p.Val791=) n.2495+822C>T | dbSNP gnomAD v4 |
| 7 | g.116759443C>A | CA368982317 | MET | c.2317C>A (p.Pro773Thr) c.2264+823C>A (n.2264+823C>A) c.2371C>A (p.Pro791Thr) c.157C>A (p.Pro53Thr) c.1027C>A (p.Pro343Thr) c.2374C>A (p.Pro792Thr) n.2495+823C>A | dbSNP |
| 7 | g.116759443C>G | CA368982315 | MET | c.2317C>G (p.Pro773Ala) c.2264+823C>G (n.2264+823C>G) c.2371C>G (p.Pro791Ala) c.157C>G (p.Pro53Ala) c.1027C>G (p.Pro343Ala) c.2374C>G (p.Pro792Ala) n.2495+823C>G | dbSNP |
| 7 | g.116759443C>T | CA368982313 | MET | c.2317C>T (p.Pro773Ser) c.2264+823C>T (n.2264+823C>T) c.2371C>T (p.Pro791Ser) c.157C>T (p.Pro53Ser) c.1027C>T (p.Pro343Ser) c.2374C>T (p.Pro792Ser) n.2495+823C>T | ClinVar dbSNP |
| 7 | g.116759444C>A | CA368982322 | MET | c.2318C>A (p.Pro773Gln) c.2264+824C>A (n.2264+824C>A) c.2372C>A (p.Pro791Gln) c.158C>A (p.Pro53Gln) c.1028C>A (p.Pro343Gln) c.2375C>A (p.Pro792Gln) n.2495+824C>A | dbSNP |
| 7 | g.116759444C= | CA1737025392 | MET | c.2318C= (p.Pro773=) c.2264+824C= (n.2264+824C=) c.2372C= (p.Pro791=) c.158C= (p.Pro53=) c.1028C= (p.Pro343=) c.2375C= (p.Pro792=) n.2495+824C= | |
| 7 | g.116759444C>G | CA368982324 | MET | c.2318C>G (p.Pro773Arg) c.2264+824C>G (n.2264+824C>G) c.2372C>G (p.Pro791Arg) c.158C>G (p.Pro53Arg) c.1028C>G (p.Pro343Arg) c.2375C>G (p.Pro792Arg) n.2495+824C>G | dbSNP |
| 7 | g.116759444C>T | CA4448450 | MET | c.2318C>T (p.Pro773Leu) c.2264+824C>T (n.2264+824C>T) c.2372C>T (p.Pro791Leu) c.158C>T (p.Pro53Leu) c.1028C>T (p.Pro343Leu) c.2375C>T (p.Pro792Leu) n.2495+824C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116759445G>A | CA4448451 | MET | c.2319G>A (p.Pro773=) c.2264+825G>A (n.2264+825G>A) c.2373G>A (p.Pro791=) c.159G>A (p.Pro53=) c.1029G>A (p.Pro343=) c.2376G>A (p.Pro792=) n.2495+825G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116759445G>C | CA457217283 | MET | c.2319G>C (p.Pro773=) c.2264+825G>C (n.2264+825G>C) c.2373G>C (p.Pro791=) c.159G>C (p.Pro53=) c.1029G>C (p.Pro343=) c.2376G>C (p.Pro792=) n.2495+825G>C | ClinVar dbSNP |
| 7 | g.116759445G= | CA1737025404 | MET | c.2319G= (p.Pro773=) c.2264+825G= (n.2264+825G=) c.2373G= (p.Pro791=) c.159G= (p.Pro53=) c.1029G= (p.Pro343=) c.2376G= (p.Pro792=) n.2495+825G= | |
| 7 | g.116759445G>T | CA457217284 | MET | c.2319G>T (p.Pro773=) c.2264+825G>T (n.2264+825G>T) c.2373G>T (p.Pro791=) c.159G>T (p.Pro53=) c.1029G>T (p.Pro343=) c.2376G>T (p.Pro792=) n.2495+825G>T | |
| 7 | g.116759446A>C | CA457217285 | MET | c.2320A>C (p.Arg774=) c.2264+826A>C (n.2264+826A>C) c.2374A>C (p.Arg792=) c.160A>C (p.Arg54=) c.1030A>C (p.Arg344=) c.2377A>C (p.Arg793=) n.2495+826A>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.116759446A>G | CA368982339 | MET | c.2320A>G (p.Arg774Gly) c.2264+826A>G (n.2264+826A>G) c.2374A>G (p.Arg792Gly) c.160A>G (p.Arg54Gly) c.1030A>G (p.Arg344Gly) c.2377A>G (p.Arg793Gly) n.2495+826A>G | |
| 7 | g.116759446A>T | CA368982342 | MET | c.2320A>T (p.Arg774Ter) c.2264+826A>T (n.2264+826A>T) c.2374A>T (p.Arg792Ter) c.160A>T (p.Arg54Ter) c.1030A>T (p.Arg344Ter) c.2377A>T (p.Arg793Ter) n.2495+826A>T | dbSNP |
| 7 | g.116759447G>A | CA368982344 | MET | c.2321G>A (p.Arg774Lys) c.2264+827G>A (n.2264+827G>A) c.2375G>A (p.Arg792Lys) c.161G>A (p.Arg54Lys) c.1031G>A (p.Arg344Lys) c.2378G>A (p.Arg793Lys) n.2495+827G>A | dbSNP |
| 7 | g.116759447G>C | CA368982346 | MET | c.2321G>C (p.Arg774Thr) c.2264+827G>C (n.2264+827G>C) c.2375G>C (p.Arg792Thr) c.161G>C (p.Arg54Thr) c.1031G>C (p.Arg344Thr) c.2378G>C (p.Arg793Thr) n.2495+827G>C | dbSNP |
| 7 | g.116759447G>T | CA368982345 | MET | c.2321G>T (p.Arg774Ile) c.2264+827G>T (n.2264+827G>T) c.2375G>T (p.Arg792Ile) c.161G>T (p.Arg54Ile) c.1031G>T (p.Arg344Ile) c.2378G>T (p.Arg793Ile) n.2495+827G>T | |
| 7 | g.116759448A>C | CA368982348 | MET | c.2322A>C (p.Arg774Ser) c.2264+828A>C (n.2264+828A>C) c.2376A>C (p.Arg792Ser) c.162A>C (p.Arg54Ser) c.1032A>C (p.Arg344Ser) c.2379A>C (p.Arg793Ser) n.2495+828A>C | |
| 7 | g.116759448A>G | CA457217292 | MET | c.2322A>G (p.Arg774=) c.2264+828A>G (n.2264+828A>G) c.2376A>G (p.Arg792=) c.162A>G (p.Arg54=) c.1032A>G (p.Arg344=) c.2379A>G (p.Arg793=) n.2495+828A>G | ClinVar dbSNP |
| 7 | g.116759448A>T | CA368982350 | MET | c.2322A>T (p.Arg774Ser) c.2264+828A>T (n.2264+828A>T) c.2376A>T (p.Arg792Ser) c.162A>T (p.Arg54Ser) c.1032A>T (p.Arg344Ser) c.2379A>T (p.Arg793Ser) n.2495+828A>T | dbSNP |
| 7 | g.116759449A= | CA1737025407 | MET | c.2323A= (p.Met775=) c.2264+829A= (n.2264+829A=) c.2377A= (p.Met793=) c.163A= (p.Met55=) c.1033A= (p.Met345=) c.2380A= (p.Met794=) n.2495+829A= | |
| 7 | g.116759449A>C | CA368982353 | MET | c.2323A>C (p.Met775Leu) c.2264+829A>C (n.2264+829A>C) c.2377A>C (p.Met793Leu) c.163A>C (p.Met55Leu) c.1033A>C (p.Met345Leu) c.2380A>C (p.Met794Leu) n.2495+829A>C | |
| 7 | g.116759449A>G | CA368982356 | MET | c.2323A>G (p.Met775Val) c.2264+829A>G (n.2264+829A>G) c.2377A>G (p.Met793Val) c.163A>G (p.Met55Val) c.1033A>G (p.Met345Val) c.2380A>G (p.Met794Val) n.2495+829A>G | ClinVar dbSNP |
| 7 | g.116759449A>T | CA368982362 | MET | c.2323A>T (p.Met775Leu) c.2264+829A>T (n.2264+829A>T) c.2377A>T (p.Met793Leu) c.163A>T (p.Met55Leu) c.1033A>T (p.Met345Leu) c.2380A>T (p.Met794Leu) n.2495+829A>T | dbSNP |
| 7 | g.116759450T>A | CA368982365 | MET | c.2324T>A (p.Met775Lys) c.2264+830T>A (n.2264+830T>A) c.2378T>A (p.Met793Lys) c.164T>A (p.Met55Lys) c.1034T>A (p.Met345Lys) c.2381T>A (p.Met794Lys) n.2495+830T>A | ClinVar gnomAD v4 |
| 7 | g.116759450T>C | CA368982367 | MET | c.2324T>C (p.Met775Thr) c.2264+830T>C (n.2264+830T>C) c.2378T>C (p.Met793Thr) c.164T>C (p.Met55Thr) c.1034T>C (p.Met345Thr) c.2381T>C (p.Met794Thr) n.2495+830T>C | gnomAD v4 |
| 7 | g.116759450T>G | CA368982371 | MET | c.2324T>G (p.Met775Arg) c.2264+830T>G (n.2264+830T>G) c.2378T>G (p.Met793Arg) c.164T>G (p.Met55Arg) c.1034T>G (p.Met345Arg) c.2381T>G (p.Met794Arg) n.2495+830T>G | |
| 7 | g.116759451G>A | CA368982372 | MET | c.2325G>A (p.Met775Ile) c.2264+831G>A (n.2264+831G>A) c.2379G>A (p.Met793Ile) c.165G>A (p.Met55Ile) c.1035G>A (p.Met345Ile) c.2382G>A (p.Met794Ile) n.2495+831G>A | dbSNP |
| 7 | g.116759451G>C | CA368982373 | MET | c.2325G>C (p.Met775Ile) c.2264+831G>C (n.2264+831G>C) c.2379G>C (p.Met793Ile) c.165G>C (p.Met55Ile) c.1035G>C (p.Met345Ile) c.2382G>C (p.Met794Ile) n.2495+831G>C | dbSNP |
| 7 | g.116759451G= | CA1737025412 | MET | c.2325G= (p.Met775=) c.2264+831G= (n.2264+831G=) c.2379G= (p.Met793=) c.165G= (p.Met55=) c.1035G= (p.Met345=) c.2382G= (p.Met794=) n.2495+831G= | |
| 7 | g.116759451G>T | CA4448452 | MET | c.2325G>T (p.Met775Ile) c.2264+831G>T (n.2264+831G>T) c.2379G>T (p.Met793Ile) c.165G>T (p.Met55Ile) c.1035G>T (p.Met345Ile) c.2382G>T (p.Met794Ile) n.2495+831G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116759452G>A | CA368982378 | MET | c.2326G>A (p.Val776Ile) c.2264+832G>A (n.2264+832G>A) c.2380G>A (p.Val794Ile) c.166G>A (p.Val56Ile) c.1036G>A (p.Val346Ile) c.2383G>A (p.Val795Ile) n.2495+832G>A | ClinVar dbSNP |
| 7 | g.116759452G>C | CA4448453 | MET | c.2326G>C (p.Val776Leu) c.2264+832G>C (n.2264+832G>C) c.2380G>C (p.Val794Leu) c.166G>C (p.Val56Leu) c.1036G>C (p.Val346Leu) c.2383G>C (p.Val795Leu) n.2495+832G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116759452G= | CA1737025425 | MET | c.2326G= (p.Val776=) c.2264+832G= (n.2264+832G=) c.2380G= (p.Val794=) c.166G= (p.Val56=) c.1036G= (p.Val346=) c.2383G= (p.Val795=) n.2495+832G= | |
| 7 | g.116759452G>T | CA368982381 | MET | c.2326G>T (p.Val776Phe) c.2264+832G>T (n.2264+832G>T) c.2380G>T (p.Val794Phe) c.166G>T (p.Val56Phe) c.1036G>T (p.Val346Phe) c.2383G>T (p.Val795Phe) n.2495+832G>T | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116759453T>A | CA368982385 | MET | c.2327T>A (p.Val776Asp) c.2264+833T>A (n.2264+833T>A) c.2381T>A (p.Val794Asp) c.167T>A (p.Val56Asp) c.1037T>A (p.Val346Asp) c.2384T>A (p.Val795Asp) n.2495+833T>A | dbSNP COSMIC |
| 7 | g.116759453T>C | CA368982390 | MET | c.2327T>C (p.Val776Ala) c.2264+833T>C (n.2264+833T>C) c.2381T>C (p.Val794Ala) c.167T>C (p.Val56Ala) c.1037T>C (p.Val346Ala) c.2384T>C (p.Val795Ala) n.2495+833T>C | dbSNP |
| 7 | g.116759453T>G | CA368982386 | MET | c.2327T>G (p.Val776Gly) c.2264+833T>G (n.2264+833T>G) c.2381T>G (p.Val794Gly) c.167T>G (p.Val56Gly) c.1037T>G (p.Val346Gly) c.2384T>G (p.Val795Gly) n.2495+833T>G | ClinVar |
| 7 | g.116759454C>A | CA457217299 | MET | c.2328C>A (p.Val776=) c.2264+834C>A (n.2264+834C>A) c.2382C>A (p.Val794=) c.168C>A (p.Val56=) c.1038C>A (p.Val346=) c.2385C>A (p.Val795=) n.2495+834C>A | dbSNP gnomAD v4 |
| 7 | g.116759454C= | CA1737025444 | MET | c.2328C= (p.Val776=) c.2264+834C= (n.2264+834C=) c.2382C= (p.Val794=) c.168C= (p.Val56=) c.1038C= (p.Val346=) c.2385C= (p.Val795=) n.2495+834C= | |
| 7 | g.116759454C>G | CA457217297 | MET | c.2328C>G (p.Val776=) c.2264+834C>G (n.2264+834C>G) c.2382C>G (p.Val794=) c.168C>G (p.Val56=) c.1038C>G (p.Val346=) c.2385C>G (p.Val795=) n.2495+834C>G | dbSNP |
| 7 | g.116759454C>T | CA457217298 | MET | c.2328C>T (p.Val776=) c.2264+834C>T (n.2264+834C>T) c.2382C>T (p.Val794=) c.168C>T (p.Val56=) c.1038C>T (p.Val346=) c.2385C>T (p.Val795=) n.2495+834C>T | ClinVar dbSNP |
| 7 | g.116759455A>C | CA368982393 | MET | c.2329A>C (p.Ile777Leu) c.2264+835A>C (n.2264+835A>C) c.2383A>C (p.Ile795Leu) c.169A>C (p.Ile57Leu) c.1039A>C (p.Ile347Leu) c.2386A>C (p.Ile796Leu) n.2495+835A>C | |
| 7 | g.116759455A>G | CA368982401 | MET | c.2329A>G (p.Ile777Val) c.2264+835A>G (n.2264+835A>G) c.2383A>G (p.Ile795Val) c.169A>G (p.Ile57Val) c.1039A>G (p.Ile347Val) c.2386A>G (p.Ile796Val) n.2495+835A>G | |
| 7 | g.116759455A>T | CA368982398 | MET | c.2329A>T (p.Ile777Leu) c.2264+835A>T (n.2264+835A>T) c.2383A>T (p.Ile795Leu) c.169A>T (p.Ile57Leu) c.1039A>T (p.Ile347Leu) c.2386A>T (p.Ile796Leu) n.2495+835A>T | dbSNP |
| 7 | g.116759455_116759456delinsAT | CA1737025450 | MET | c.2329_2330delinsAT (p.Ile777=) c.2264+835_2264+836delinsAT (n.2264+835_2264+836delinsAT) c.2383_2384delinsAT (p.Ile795=) c.169_170delinsAT (p.Ile57=) c.1039_1040delinsAT (p.Ile347=) c.2386_2387delinsAT (p.Ile796=) n.2495+835_2495+836delinsAT | |
| 7 | g.116759456del | CA1737025454 | MET | c.2330del (p.Ile777LysfsTer22) c.2264+836del (n.2264+836del) c.2384del (p.Ile795LysfsTer22) c.170del (p.Ile57LysfsTer22) c.1040del (p.Ile347LysfsTer22) c.2387del (p.Ile796LysfsTer22) n.2495+836del | dbSNP |
| 7 | g.116759456T>A | CA368982404 | MET | c.2330T>A (p.Ile777Lys) c.2264+836T>A (n.2264+836T>A) c.2384T>A (p.Ile795Lys) c.170T>A (p.Ile57Lys) c.1040T>A (p.Ile347Lys) c.2387T>A (p.Ile796Lys) n.2495+836T>A | |
| 7 | g.116759456T>C | CA368982408 | MET | c.2330T>C (p.Ile777Thr) c.2264+836T>C (n.2264+836T>C) c.2384T>C (p.Ile795Thr) c.170T>C (p.Ile57Thr) c.1040T>C (p.Ile347Thr) c.2387T>C (p.Ile796Thr) n.2495+836T>C | |
| 7 | g.116759456T>G | CA368982407 | MET | c.2330T>G (p.Ile777Arg) c.2264+836T>G (n.2264+836T>G) c.2384T>G (p.Ile795Arg) c.170T>G (p.Ile57Arg) c.1040T>G (p.Ile347Arg) c.2387T>G (p.Ile796Arg) n.2495+836T>G | |
| 7 | g.116759457A>C | CA457217302 | MET | c.2331A>C (p.Ile777=) c.2264+837A>C (n.2264+837A>C) c.2385A>C (p.Ile795=) c.171A>C (p.Ile57=) c.1041A>C (p.Ile347=) c.2388A>C (p.Ile796=) n.2495+837A>C | |
| 7 | g.116759457A>G | CA368982409 | MET | c.2331A>G (p.Ile777Met) c.2264+837A>G (n.2264+837A>G) c.2385A>G (p.Ile795Met) c.171A>G (p.Ile57Met) c.1041A>G (p.Ile347Met) c.2388A>G (p.Ile796Met) n.2495+837A>G | dbSNP |
| 7 | g.116759457A>T | CA457217303 | MET | c.2331A>T (p.Ile777=) c.2264+837A>T (n.2264+837A>T) c.2385A>T (p.Ile795=) c.171A>T (p.Ile57=) c.1041A>T (p.Ile347=) c.2388A>T (p.Ile796=) n.2495+837A>T | |
| 7 | g.116759458A= | CA1737025458 | MET | c.2332A= (p.Asn778=) c.2264+838A= (n.2264+838A=) c.2386A= (p.Asn796=) c.172A= (p.Asn58=) c.1042A= (p.Asn348=) c.2389A= (p.Asn797=) n.2495+838A= | |
| 7 | g.116759458A>C | CA4448454 | MET | c.2332A>C (p.Asn778His) c.2264+838A>C (n.2264+838A>C) c.2386A>C (p.Asn796His) c.172A>C (p.Asn58His) c.1042A>C (p.Asn348His) c.2389A>C (p.Asn797His) n.2495+838A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116759458A>G | CA368982410 | MET | c.2332A>G (p.Asn778Asp) c.2264+838A>G (n.2264+838A>G) c.2386A>G (p.Asn796Asp) c.172A>G (p.Asn58Asp) c.1042A>G (p.Asn348Asp) c.2389A>G (p.Asn797Asp) n.2495+838A>G | |
| 7 | g.116759458A>T | CA368982411 | MET | c.2332A>T (p.Asn778Tyr) c.2264+838A>T (n.2264+838A>T) c.2386A>T (p.Asn796Tyr) c.172A>T (p.Asn58Tyr) c.1042A>T (p.Asn348Tyr) c.2389A>T (p.Asn797Tyr) n.2495+838A>T | dbSNP |
| 7 | g.116759459A= | CA1737025462 | MET | c.2333A= (p.Asn778=) c.2264+839A= (n.2264+839A=) c.2387A= (p.Asn796=) c.173A= (p.Asn58=) c.1043A= (p.Asn348=) c.2390A= (p.Asn797=) n.2495+839A= | |
| 7 | g.116759459A>C | CA368982413 | MET | c.2333A>C (p.Asn778Thr) c.2264+839A>C (n.2264+839A>C) c.2387A>C (p.Asn796Thr) c.173A>C (p.Asn58Thr) c.1043A>C (p.Asn348Thr) c.2390A>C (p.Asn797Thr) n.2495+839A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116759459A>G | CA368982415 | MET | c.2333A>G (p.Asn778Ser) c.2264+839A>G (n.2264+839A>G) c.2387A>G (p.Asn796Ser) c.173A>G (p.Asn58Ser) c.1043A>G (p.Asn348Ser) c.2390A>G (p.Asn797Ser) n.2495+839A>G | |
| 7 | g.116759459A>T | CA368982417 | MET | c.2333A>T (p.Asn778Ile) c.2264+839A>T (n.2264+839A>T) c.2387A>T (p.Asn796Ile) c.173A>T (p.Asn58Ile) c.1043A>T (p.Asn348Ile) c.2390A>T (p.Asn797Ile) n.2495+839A>T | dbSNP |
| 7 | g.116759460T>A | CA368982420 | MET | c.2334T>A (p.Asn778Lys) c.2264+840T>A (n.2264+840T>A) c.2388T>A (p.Asn796Lys) c.174T>A (p.Asn58Lys) c.1044T>A (p.Asn348Lys) c.2391T>A (p.Asn797Lys) n.2495+840T>A | dbSNP |
| 7 | g.116759460T>C | CA457217306 | MET | c.2334T>C (p.Asn778=) c.2264+840T>C (n.2264+840T>C) c.2388T>C (p.Asn796=) c.174T>C (p.Asn58=) c.1044T>C (p.Asn348=) c.2391T>C (p.Asn797=) n.2495+840T>C | |
| 7 | g.116759460T>G | CA368982422 | MET | c.2334T>G (p.Asn778Lys) c.2264+840T>G (n.2264+840T>G) c.2388T>G (p.Asn796Lys) c.174T>G (p.Asn58Lys) c.1044T>G (p.Asn348Lys) c.2391T>G (p.Asn797Lys) n.2495+840T>G | ClinVar dbSNP |
| 7 | g.116759461G>A | CA368982426 | MET | c.2335G>A (p.Val779Met) c.2264+841G>A (n.2264+841G>A) c.2389G>A (p.Val797Met) c.175G>A (p.Val59Met) c.1045G>A (p.Val349Met) c.2392G>A (p.Val798Met) n.2495+841G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.116759461G>C | CA368982427 | MET | c.2335G>C (p.Val779Leu) c.2264+841G>C (n.2264+841G>C) c.2389G>C (p.Val797Leu) c.175G>C (p.Val59Leu) c.1045G>C (p.Val349Leu) c.2392G>C (p.Val798Leu) n.2495+841G>C | dbSNP |
| 7 | g.116759461G= | CA1737025469 | MET | c.2335G= (p.Val779=) c.2264+841G= (n.2264+841G=) c.2389G= (p.Val797=) c.175G= (p.Val59=) c.1045G= (p.Val349=) c.2392G= (p.Val798=) n.2495+841G= | |
| 7 | g.116759461G>T | CA368982428 | MET | c.2335G>T (p.Val779Leu) c.2264+841G>T (n.2264+841G>T) c.2389G>T (p.Val797Leu) c.175G>T (p.Val59Leu) c.1045G>T (p.Val349Leu) c.2392G>T (p.Val798Leu) n.2495+841G>T | gnomAD v4 |
| 7 | g.116759462T>A | CA368982429 | MET | c.2336T>A (p.Val779Glu) c.2264+842T>A (n.2264+842T>A) c.2390T>A (p.Val797Glu) c.176T>A (p.Val59Glu) c.1046T>A (p.Val349Glu) c.2393T>A (p.Val798Glu) n.2495+842T>A | dbSNP gnomAD v4 |
| 7 | g.116759462T>C | CA368982431 | MET | c.2336T>C (p.Val779Ala) c.2264+842T>C (n.2264+842T>C) c.2390T>C (p.Val797Ala) c.176T>C (p.Val59Ala) c.1046T>C (p.Val349Ala) c.2393T>C (p.Val798Ala) n.2495+842T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116759462T>G | CA368982430 | MET | c.2336T>G (p.Val779Gly) c.2264+842T>G (n.2264+842T>G) c.2390T>G (p.Val797Gly) c.176T>G (p.Val59Gly) c.1046T>G (p.Val349Gly) c.2393T>G (p.Val798Gly) n.2495+842T>G | dbSNP |
| 7 | g.116759462T= | CA1737025471 | MET | c.2336T= (p.Val779=) c.2264+842T= (n.2264+842T=) c.2390T= (p.Val797=) c.176T= (p.Val59=) c.1046T= (p.Val349=) c.2393T= (p.Val798=) n.2495+842T= | |
| 7 | g.116759463G>A | CA336423 | MET | c.2337G>A (p.Val779=) c.2264+843G>A (n.2264+843G>A) c.2391G>A (p.Val797=) c.177G>A (p.Val59=) c.1047G>A (p.Val349=) c.2394G>A (p.Val798=) n.2495+843G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116759463G>C | CA457217307 | MET | c.2337G>C (p.Val779=) c.2264+843G>C (n.2264+843G>C) c.2391G>C (p.Val797=) c.177G>C (p.Val59=) c.1047G>C (p.Val349=) c.2394G>C (p.Val798=) n.2495+843G>C | dbSNP |
| 7 | g.116759463G= | CA1737025479 | MET | c.2337G= (p.Val779=) c.2264+843G= (n.2264+843G=) c.2391G= (p.Val797=) c.177G= (p.Val59=) c.1047G= (p.Val349=) c.2394G= (p.Val798=) n.2495+843G= | |
| 7 | g.116759463G>T | CA457217309 | MET | c.2337G>T (p.Val779=) c.2264+843G>T (n.2264+843G>T) c.2391G>T (p.Val797=) c.177G>T (p.Val59=) c.1047G>T (p.Val349=) c.2394G>T (p.Val798=) n.2495+843G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116759464C>A | CA368982433 | MET | c.2338C>A (p.His780Asn) c.2264+844C>A (n.2264+844C>A) c.2392C>A (p.His798Asn) c.178C>A (p.His60Asn) c.1048C>A (p.His350Asn) c.2395C>A (p.His799Asn) n.2495+844C>A | dbSNP |
| 7 | g.116759464C>G | CA368982436 | MET | c.2338C>G (p.His780Asp) c.2264+844C>G (n.2264+844C>G) c.2392C>G (p.His798Asp) c.178C>G (p.His60Asp) c.1048C>G (p.His350Asp) c.2395C>G (p.His799Asp) n.2495+844C>G | dbSNP |
| 7 | g.116759464C>T | CA368982437 | MET | c.2338C>T (p.His780Tyr) c.2264+844C>T (n.2264+844C>T) c.2392C>T (p.His798Tyr) c.178C>T (p.His60Tyr) c.1048C>T (p.His350Tyr) c.2395C>T (p.His799Tyr) n.2495+844C>T | dbSNP |
| 7 | g.116759465A= | CA1737025487 | MET | c.2339A= (p.His780=) c.2264+845A= (n.2264+845A=) c.2393A= (p.His798=) c.179A= (p.His60=) c.1049A= (p.His350=) c.2396A= (p.His799=) n.2495+845A= | |
| 7 | g.116759465A>C | CA368982438 | MET | c.2339A>C (p.His780Pro) c.2264+845A>C (n.2264+845A>C) c.2393A>C (p.His798Pro) c.179A>C (p.His60Pro) c.1049A>C (p.His350Pro) c.2396A>C (p.His799Pro) n.2495+845A>C | ClinVar |
| 7 | g.116759465A>G | CA4448455 | MET | c.2339A>G (p.His780Arg) c.2264+845A>G (n.2264+845A>G) c.2393A>G (p.His798Arg) c.179A>G (p.His60Arg) c.1049A>G (p.His350Arg) c.2396A>G (p.His799Arg) n.2495+845A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116759465A>T | CA368982441 | MET | c.2339A>T (p.His780Leu) c.2264+845A>T (n.2264+845A>T) c.2393A>T (p.His798Leu) c.179A>T (p.His60Leu) c.1049A>T (p.His350Leu) c.2396A>T (p.His799Leu) n.2495+845A>T | |
| 7 | g.116759466T>A | CA368982443 | MET | c.2340T>A (p.His780Gln) c.2264+846T>A (n.2264+846T>A) c.2394T>A (p.His798Gln) c.180T>A (p.His60Gln) c.1050T>A (p.His350Gln) c.2397T>A (p.His799Gln) n.2495+846T>A | dbSNP |
| 7 | g.116759466T>C | CA457217310 | MET | c.2340T>C (p.His780=) c.2264+846T>C (n.2264+846T>C) c.2394T>C (p.His798=) c.180T>C (p.His60=) c.1050T>C (p.His350=) c.2397T>C (p.His799=) n.2495+846T>C | |
| 7 | g.116759466T>G | CA368982448 | MET | c.2340T>G (p.His780Gln) c.2264+846T>G (n.2264+846T>G) c.2394T>G (p.His798Gln) c.180T>G (p.His60Gln) c.1050T>G (p.His350Gln) c.2397T>G (p.His799Gln) n.2495+846T>G | |
| 7 | g.116759467G>A | CA368982453 | MET | c.2341G>A (p.Glu781Lys) c.2264+847G>A (n.2264+847G>A) c.2395G>A (p.Glu799Lys) c.181G>A (p.Glu61Lys) c.1051G>A (p.Glu351Lys) c.2398G>A (p.Glu800Lys) n.2495+847G>A | dbSNP |
| 7 | g.116759467G>C | CA368982456 | MET | c.2341G>C (p.Glu781Gln) c.2264+847G>C (n.2264+847G>C) c.2395G>C (p.Glu799Gln) c.181G>C (p.Glu61Gln) c.1051G>C (p.Glu351Gln) c.2398G>C (p.Glu800Gln) n.2495+847G>C | dbSNP |
| 7 | g.116759467G>T | CA368982451 | MET | c.2341G>T (p.Glu781Ter) c.2264+847G>T (n.2264+847G>T) c.2395G>T (p.Glu799Ter) c.181G>T (p.Glu61Ter) c.1051G>T (p.Glu351Ter) c.2398G>T (p.Glu800Ter) n.2495+847G>T | |
| 7 | g.116759468A= | CA1737025498 | MET | c.2342A= (p.Glu781=) c.2264+848A= (n.2264+848A=) c.2396A= (p.Glu799=) c.182A= (p.Glu61=) c.1052A= (p.Glu351=) c.2399A= (p.Glu800=) n.2495+848A= | |
| 7 | g.116759468A>C | CA4448456 | MET | c.2342A>C (p.Glu781Ala) c.2264+848A>C (n.2264+848A>C) c.2396A>C (p.Glu799Ala) c.182A>C (p.Glu61Ala) c.1052A>C (p.Glu351Ala) c.2399A>C (p.Glu800Ala) n.2495+848A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116759468A>G | CA368982460 | MET | c.2342A>G (p.Glu781Gly) c.2264+848A>G (n.2264+848A>G) c.2396A>G (p.Glu799Gly) c.182A>G (p.Glu61Gly) c.1052A>G (p.Glu351Gly) c.2399A>G (p.Glu800Gly) n.2495+848A>G | dbSNP |
| 7 | g.116759468A>T | CA368982462 | MET | c.2342A>T (p.Glu781Val) c.2264+848A>T (n.2264+848A>T) c.2396A>T (p.Glu799Val) c.182A>T (p.Glu61Val) c.1052A>T (p.Glu351Val) c.2399A>T (p.Glu800Val) n.2495+848A>T | |
| 7 | g.116759469A>C | CA368982465 | MET | c.2343A>C (p.Glu781Asp) c.2264+849A>C (n.2264+849A>C) c.2397A>C (p.Glu799Asp) c.183A>C (p.Glu61Asp) c.1053A>C (p.Glu351Asp) c.2400A>C (p.Glu800Asp) n.2495+849A>C | |
| 7 | g.116759469A>G | CA457217317 | MET | c.2343A>G (p.Glu781=) c.2264+849A>G (n.2264+849A>G) c.2397A>G (p.Glu799=) c.183A>G (p.Glu61=) c.1053A>G (p.Glu351=) c.2400A>G (p.Glu800=) n.2495+849A>G | |
| 7 | g.116759469A>T | CA368982471 | MET | c.2343A>T (p.Glu781Asp) c.2264+849A>T (n.2264+849A>T) c.2397A>T (p.Glu799Asp) c.183A>T (p.Glu61Asp) c.1053A>T (p.Glu351Asp) c.2400A>T (p.Glu800Asp) n.2495+849A>T | |
| 7 | g.116759470G>A | CA368982475 | MET | c.2344G>A (p.Ala782Thr) c.2264+850G>A (n.2264+850G>A) c.2398G>A (p.Ala800Thr) c.184G>A (p.Ala62Thr) c.1054G>A (p.Ala352Thr) c.2401G>A (p.Ala801Thr) n.2495+850G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116759470G>C | CA368982477 | MET | c.2344G>C (p.Ala782Pro) c.2264+850G>C (n.2264+850G>C) c.2398G>C (p.Ala800Pro) c.184G>C (p.Ala62Pro) c.1054G>C (p.Ala352Pro) c.2401G>C (p.Ala801Pro) n.2495+850G>C | dbSNP |
| 7 | g.116759470G= | CA1737025509 | MET | c.2344G= (p.Ala782=) c.2264+850G= (n.2264+850G=) c.2398G= (p.Ala800=) c.184G= (p.Ala62=) c.1054G= (p.Ala352=) c.2401G= (p.Ala801=) n.2495+850G= | |
| 7 | g.116759470G>T | CA368982480 | MET | c.2344G>T (p.Ala782Ser) c.2264+850G>T (n.2264+850G>T) c.2398G>T (p.Ala800Ser) c.184G>T (p.Ala62Ser) c.1054G>T (p.Ala352Ser) c.2401G>T (p.Ala801Ser) n.2495+850G>T | |
| 7 | g.116759471C>A | CA368982483 | MET | c.2345C>A (p.Ala782Glu) c.2264+851C>A (n.2264+851C>A) c.2399C>A (p.Ala800Glu) c.185C>A (p.Ala62Glu) c.1055C>A (p.Ala352Glu) c.2402C>A (p.Ala801Glu) n.2495+851C>A | dbSNP |
| 7 | g.116759471C>G | CA368982487 | MET | c.2345C>G (p.Ala782Gly) c.2264+851C>G (n.2264+851C>G) c.2399C>G (p.Ala800Gly) c.185C>G (p.Ala62Gly) c.1055C>G (p.Ala352Gly) c.2402C>G (p.Ala801Gly) n.2495+851C>G | dbSNP gnomAD v4 |
| 7 | g.116759471C>T | CA368982489 | MET | c.2345C>T (p.Ala782Val) c.2264+851C>T (n.2264+851C>T) c.2399C>T (p.Ala800Val) c.185C>T (p.Ala62Val) c.1055C>T (p.Ala352Val) c.2402C>T (p.Ala801Val) n.2495+851C>T | dbSNP |
| 7 | g.116759472A>C | CA457217323 | MET | c.2346A>C (p.Ala782=) c.2264+852A>C (n.2264+852A>C) c.2400A>C (p.Ala800=) c.186A>C (p.Ala62=) c.1056A>C (p.Ala352=) c.2403A>C (p.Ala801=) n.2495+852A>C | |
| 7 | g.116759472A>G | CA457217320 | MET | c.2346A>G (p.Ala782=) c.2264+852A>G (n.2264+852A>G) c.2400A>G (p.Ala800=) c.186A>G (p.Ala62=) c.1056A>G (p.Ala352=) c.2403A>G (p.Ala801=) n.2495+852A>G | |
| 7 | g.116759472A>T | CA457217322 | MET | c.2346A>T (p.Ala782=) c.2264+852A>T (n.2264+852A>T) c.2400A>T (p.Ala800=) c.186A>T (p.Ala62=) c.1056A>T (p.Ala352=) c.2403A>T (p.Ala801=) n.2495+852A>T | |
| 7 | g.116759473G>A | CA368982493 | MET | c.2347G>A (p.Gly783Arg) c.2264+853G>A (n.2264+853G>A) c.2401G>A (p.Gly801Arg) c.187G>A (p.Gly63Arg) c.1057G>A (p.Gly353Arg) c.2404G>A (p.Gly802Arg) n.2495+853G>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116759473G>C | CA10584664 | MET | c.2347G>C (p.Gly783Arg) c.2264+853G>C (n.2264+853G>C) c.2401G>C (p.Gly801Arg) c.187G>C (p.Gly63Arg) c.1057G>C (p.Gly353Arg) c.2404G>C (p.Gly802Arg) n.2495+853G>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.116759473G= | CA1737025517 | MET | c.2347G= (p.Gly783=) c.2264+853G= (n.2264+853G=) c.2401G= (p.Gly801=) c.187G= (p.Gly63=) c.1057G= (p.Gly353=) c.2404G= (p.Gly802=) n.2495+853G= | |
| 7 | g.116759473G>T | CA368982491 | MET | c.2347G>T (p.Gly783Ter) c.2264+853G>T (n.2264+853G>T) c.2401G>T (p.Gly801Ter) c.187G>T (p.Gly63Ter) c.1057G>T (p.Gly353Ter) c.2404G>T (p.Gly802Ter) n.2495+853G>T | |
| 7 | g.116759474G>A | CA368982498 | MET | c.2348G>A (p.Gly783Glu) c.2264+854G>A (n.2264+854G>A) c.2402G>A (p.Gly801Glu) c.188G>A (p.Gly63Glu) c.1058G>A (p.Gly353Glu) c.2405G>A (p.Gly802Glu) n.2495+854G>A | dbSNP |
| 7 | g.116759474G>C | CA368982504 | MET | c.2348G>C (p.Gly783Ala) c.2264+854G>C (n.2264+854G>C) c.2402G>C (p.Gly801Ala) c.188G>C (p.Gly63Ala) c.1058G>C (p.Gly353Ala) c.2405G>C (p.Gly802Ala) n.2495+854G>C | dbSNP |
| 7 | g.116759474G>T | CA368982505 | MET | c.2348G>T (p.Gly783Val) c.2264+854G>T (n.2264+854G>T) c.2402G>T (p.Gly801Val) c.188G>T (p.Gly63Val) c.1058G>T (p.Gly353Val) c.2405G>T (p.Gly802Val) n.2495+854G>T | |
| 7 | g.116759475A>C | CA457217325 | MET | c.2349A>C (p.Gly783=) c.2264+855A>C (n.2264+855A>C) c.2403A>C (p.Gly801=) c.189A>C (p.Gly63=) c.1059A>C (p.Gly353=) c.2406A>C (p.Gly802=) n.2495+855A>C | |
| 7 | g.116759475A>G | CA457217326 | MET | c.2349A>G (p.Gly783=) c.2264+855A>G (n.2264+855A>G) c.2403A>G (p.Gly801=) c.189A>G (p.Gly63=) c.1059A>G (p.Gly353=) c.2406A>G (p.Gly802=) n.2495+855A>G | dbSNP |
| 7 | g.116759475A>T | CA457217327 | MET | c.2349A>T (p.Gly783=) c.2264+855A>T (n.2264+855A>T) c.2403A>T (p.Gly801=) c.189A>T (p.Gly63=) c.1059A>T (p.Gly353=) c.2406A>T (p.Gly802=) n.2495+855A>T | dbSNP |
| 7 | g.116759476A>C | CA457217328 | MET | c.2350A>C (p.Arg784=) c.2264+856A>C (n.2264+856A>C) c.2404A>C (p.Arg802=) c.190A>C (p.Arg64=) c.1060A>C (p.Arg354=) c.2407A>C (p.Arg803=) n.2495+856A>C | |
| 7 | g.116759476A>G | CA368982510 | MET | c.2350A>G (p.Arg784Gly) c.2264+856A>G (n.2264+856A>G) c.2404A>G (p.Arg802Gly) c.190A>G (p.Arg64Gly) c.1060A>G (p.Arg354Gly) c.2407A>G (p.Arg803Gly) n.2495+856A>G | dbSNP |
| 7 | g.116759476A>T | CA368982515 | MET | c.2350A>T (p.Arg784Trp) c.2264+856A>T (n.2264+856A>T) c.2404A>T (p.Arg802Trp) c.190A>T (p.Arg64Trp) c.1060A>T (p.Arg354Trp) c.2407A>T (p.Arg803Trp) n.2495+856A>T | dbSNP |
| 7 | g.116759477G>A | CA368982531 | MET | c.2351G>A (p.Arg784Lys) c.2264+857G>A (n.2264+857G>A) c.2405G>A (p.Arg802Lys) c.191G>A (p.Arg64Lys) c.1061G>A (p.Arg354Lys) c.2408G>A (p.Arg803Lys) n.2495+857G>A | ClinVar dbSNP |
| 7 | g.116759477G>C | CA368982520 | MET | c.2351G>C (p.Arg784Thr) c.2264+857G>C (n.2264+857G>C) c.2405G>C (p.Arg802Thr) c.191G>C (p.Arg64Thr) c.1061G>C (p.Arg354Thr) c.2408G>C (p.Arg803Thr) n.2495+857G>C | |
| 7 | g.116759477G= | CA1737025522 | MET | c.2351G= (p.Arg784=) c.2264+857G= (n.2264+857G=) c.2405G= (p.Arg802=) c.191G= (p.Arg64=) c.1061G= (p.Arg354=) c.2408G= (p.Arg803=) n.2495+857G= | |
| 7 | g.116759477G>T | CA368982528 | MET | c.2351G>T (p.Arg784Met) c.2264+857G>T (n.2264+857G>T) c.2405G>T (p.Arg802Met) c.191G>T (p.Arg64Met) c.1061G>T (p.Arg354Met) c.2408G>T (p.Arg803Met) n.2495+857G>T | |
| 7 | g.116759478G>A | CA457217329 | MET | c.2352G>A (p.Arg784=) c.2264+858G>A (n.2264+858G>A) c.2406G>A (p.Arg802=) c.192G>A (p.Arg64=) c.1062G>A (p.Arg354=) c.2409G>A (p.Arg803=) n.2495+858G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116759478G>C | CA368982532 | MET | c.2352G>C (p.Arg784Ser) c.2264+858G>C (n.2264+858G>C) c.2406G>C (p.Arg802Ser) c.192G>C (p.Arg64Ser) c.1062G>C (p.Arg354Ser) c.2409G>C (p.Arg803Ser) n.2495+858G>C | dbSNP |
| 7 | g.116759478G>T | CA368982534 | MET | c.2352G>T (p.Arg784Ser) c.2264+858G>T (n.2264+858G>T) c.2406G>T (p.Arg802Ser) c.192G>T (p.Arg64Ser) c.1062G>T (p.Arg354Ser) c.2409G>T (p.Arg803Ser) n.2495+858G>T | gnomAD v4 |
| 7 | g.116759479A>C | CA368982537 | MET | c.2353A>C (p.Asn785His) c.2264+859A>C (n.2264+859A>C) c.2407A>C (p.Asn803His) c.193A>C (p.Asn65His) c.1063A>C (p.Asn355His) c.2410A>C (p.Asn804His) n.2495+859A>C | |
| 7 | g.116759479A>G | CA368982540 | MET | c.2353A>G (p.Asn785Asp) c.2264+859A>G (n.2264+859A>G) c.2407A>G (p.Asn803Asp) c.193A>G (p.Asn65Asp) c.1063A>G (p.Asn355Asp) c.2410A>G (p.Asn804Asp) n.2495+859A>G | ClinVar gnomAD v4 |
| 7 | g.116759479A>T | CA368982542 | MET | c.2353A>T (p.Asn785Tyr) c.2264+859A>T (n.2264+859A>T) c.2407A>T (p.Asn803Tyr) c.193A>T (p.Asn65Tyr) c.1063A>T (p.Asn355Tyr) c.2410A>T (p.Asn804Tyr) n.2495+859A>T | dbSNP |
| 7 | g.116759480A>C | CA368982548 | MET | c.2354A>C (p.Asn785Thr) c.2264+860A>C (n.2264+860A>C) c.2408A>C (p.Asn803Thr) c.194A>C (p.Asn65Thr) c.1064A>C (p.Asn355Thr) c.2411A>C (p.Asn804Thr) n.2495+860A>C | |
| 7 | g.116759480A>G | CA368982547 | MET | c.2354A>G (p.Asn785Ser) c.2264+860A>G (n.2264+860A>G) c.2408A>G (p.Asn803Ser) c.194A>G (p.Asn65Ser) c.1064A>G (p.Asn355Ser) c.2411A>G (p.Asn804Ser) n.2495+860A>G | |
| 7 | g.116759480A>T | CA368982545 | MET | c.2354A>T (p.Asn785Ile) c.2264+860A>T (n.2264+860A>T) c.2408A>T (p.Asn803Ile) c.194A>T (p.Asn65Ile) c.1064A>T (p.Asn355Ile) c.2411A>T (p.Asn804Ile) n.2495+860A>T | ClinVar dbSNP |
| 7 | g.116759481C>A | CA368982549 | MET | c.2355C>A (p.Asn785Lys) c.2264+861C>A (n.2264+861C>A) c.2409C>A (p.Asn803Lys) c.195C>A (p.Asn65Lys) c.1065C>A (p.Asn355Lys) c.2412C>A (p.Asn804Lys) n.2495+861C>A | ClinVar |
| 7 | g.116759481C>G | CA368982550 | MET | c.2355C>G (p.Asn785Lys) c.2264+861C>G (n.2264+861C>G) c.2409C>G (p.Asn803Lys) c.195C>G (p.Asn65Lys) c.1065C>G (p.Asn355Lys) c.2412C>G (p.Asn804Lys) n.2495+861C>G | gnomAD v4 |
| 7 | g.116759481C>T | CA457217332 | MET | c.2355C>T (p.Asn785=) c.2264+861C>T (n.2264+861C>T) c.2409C>T (p.Asn803=) c.195C>T (p.Asn65=) c.1065C>T (p.Asn355=) c.2412C>T (p.Asn804=) n.2495+861C>T | gnomAD v4 |
| 7 | g.116759482T>A | CA368982553 | MET | c.2356T>A (p.Phe786Ile) c.2264+862T>A (n.2264+862T>A) c.2410T>A (p.Phe804Ile) c.196T>A (p.Phe66Ile) c.1066T>A (p.Phe356Ile) c.2413T>A (p.Phe805Ile) n.2495+862T>A | dbSNP |
| 7 | g.116759482T>C | CA368982555 | MET | c.2356T>C (p.Phe786Leu) c.2264+862T>C (n.2264+862T>C) c.2410T>C (p.Phe804Leu) c.196T>C (p.Phe66Leu) c.1066T>C (p.Phe356Leu) c.2413T>C (p.Phe805Leu) n.2495+862T>C | |
| 7 | g.116759482T>G | CA368982558 | MET | c.2356T>G (p.Phe786Val) c.2264+862T>G (n.2264+862T>G) c.2410T>G (p.Phe804Val) c.196T>G (p.Phe66Val) c.1066T>G (p.Phe356Val) c.2413T>G (p.Phe805Val) n.2495+862T>G | |
| 7 | g.116759483T>A | CA368982560 | MET | c.2357T>A (p.Phe786Tyr) c.2264+863T>A (n.2264+863T>A) c.2411T>A (p.Phe804Tyr) c.197T>A (p.Phe66Tyr) c.1067T>A (p.Phe356Tyr) c.2414T>A (p.Phe805Tyr) n.2495+863T>A | |
| 7 | g.116759483T>C | CA368982564 | MET | c.2357T>C (p.Phe786Ser) c.2264+863T>C (n.2264+863T>C) c.2411T>C (p.Phe804Ser) c.197T>C (p.Phe66Ser) c.1067T>C (p.Phe356Ser) c.2414T>C (p.Phe805Ser) n.2495+863T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116759483T>G | CA368982566 | MET | c.2357T>G (p.Phe786Cys) c.2264+863T>G (n.2264+863T>G) c.2411T>G (p.Phe804Cys) c.197T>G (p.Phe66Cys) c.1067T>G (p.Phe356Cys) c.2414T>G (p.Phe805Cys) n.2495+863T>G | |
| 7 | g.116759483T= | CA1737025529 | MET | c.2357T= (p.Phe786=) c.2264+863T= (n.2264+863T=) c.2411T= (p.Phe804=) c.197T= (p.Phe66=) c.1067T= (p.Phe356=) c.2414T= (p.Phe805=) n.2495+863T= | |
| 7 | g.116759484T>A | CA368982569 | MET | c.2358T>A (p.Phe786Leu) c.2264+864T>A (n.2264+864T>A) c.2412T>A (p.Phe804Leu) c.198T>A (p.Phe66Leu) c.1068T>A (p.Phe356Leu) c.2415T>A (p.Phe805Leu) n.2495+864T>A | |
| 7 | g.116759484T>C | CA4448457 | MET | c.2358T>C (p.Phe786=) c.2264+864T>C (n.2264+864T>C) c.2412T>C (p.Phe804=) c.198T>C (p.Phe66=) c.1068T>C (p.Phe356=) c.2415T>C (p.Phe805=) n.2495+864T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116759484T>G | CA368982571 | MET | c.2358T>G (p.Phe786Leu) c.2264+864T>G (n.2264+864T>G) c.2412T>G (p.Phe804Leu) c.198T>G (p.Phe66Leu) c.1068T>G (p.Phe356Leu) c.2415T>G (p.Phe805Leu) n.2495+864T>G | |
| 7 | g.116759484T= | CA1737025532 | MET | c.2358T= (p.Phe786=) c.2264+864T= (n.2264+864T=) c.2412T= (p.Phe804=) c.198T= (p.Phe66=) c.1068T= (p.Phe356=) c.2415T= (p.Phe805=) n.2495+864T= | |
| 7 | g.116759485A= | CA1737025536 | MET | c.2359A= (p.Thr787=) c.2264+865A= (n.2264+865A=) c.2413A= (p.Thr805=) c.199A= (p.Thr67=) c.1069A= (p.Thr357=) c.2416A= (p.Thr806=) n.2495+865A= | |
| 7 | g.116759485A>C | CA368982572 | MET | c.2359A>C (p.Thr787Pro) c.2264+865A>C (n.2264+865A>C) c.2413A>C (p.Thr805Pro) c.199A>C (p.Thr67Pro) c.1069A>C (p.Thr357Pro) c.2416A>C (p.Thr806Pro) n.2495+865A>C | dbSNP |
| 7 | g.116759485A>G | CA368982573 | MET | c.2359A>G (p.Thr787Ala) c.2264+865A>G (n.2264+865A>G) c.2413A>G (p.Thr805Ala) c.199A>G (p.Thr67Ala) c.1069A>G (p.Thr357Ala) c.2416A>G (p.Thr806Ala) n.2495+865A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.116759485A>T | CA368982575 | MET | c.2359A>T (p.Thr787Ser) c.2264+865A>T (n.2264+865A>T) c.2413A>T (p.Thr805Ser) c.199A>T (p.Thr67Ser) c.1069A>T (p.Thr357Ser) c.2416A>T (p.Thr806Ser) n.2495+865A>T | dbSNP |
| 7 | g.116759486C>A | CA368982582 | MET | c.2360C>A (p.Thr787Lys) c.2264+866C>A (n.2264+866C>A) c.2414C>A (p.Thr805Lys) c.200C>A (p.Thr67Lys) c.1070C>A (p.Thr357Lys) c.2417C>A (p.Thr806Lys) n.2495+866C>A | |
| 7 | g.116759486C>G | CA368982580 | MET | c.2360C>G (p.Thr787Arg) c.2264+866C>G (n.2264+866C>G) c.2414C>G (p.Thr805Arg) c.200C>G (p.Thr67Arg) c.1070C>G (p.Thr357Arg) c.2417C>G (p.Thr806Arg) n.2495+866C>G | |
| 7 | g.116759486C>T | CA368982578 | MET | c.2360C>T (p.Thr787Ile) c.2264+866C>T (n.2264+866C>T) c.2414C>T (p.Thr805Ile) c.200C>T (p.Thr67Ile) c.1070C>T (p.Thr357Ile) c.2417C>T (p.Thr806Ile) n.2495+866C>T | ClinVar dbSNP |
| 7 | g.116759487A= | CA1737025547 | MET | c.2361A= (p.Thr787=) c.2264+867A= (n.2264+867A=) c.2415A= (p.Thr805=) c.201A= (p.Thr67=) c.1071A= (p.Thr357=) c.2418A= (p.Thr806=) n.2495+867A= | |
| 7 | g.116759487A>C | CA457217336 | MET | c.2361A>C (p.Thr787=) c.2264+867A>C (n.2264+867A>C) c.2415A>C (p.Thr805=) c.201A>C (p.Thr67=) c.1071A>C (p.Thr357=) c.2418A>C (p.Thr806=) n.2495+867A>C | gnomAD v4 |
| 7 | g.116759487A>G | CA164895061 | MET | c.2361A>G (p.Thr787=) c.2264+867A>G (n.2264+867A>G) c.2415A>G (p.Thr805=) c.201A>G (p.Thr67=) c.1071A>G (p.Thr357=) c.2418A>G (p.Thr806=) n.2495+867A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.116759487A>T | CA457217338 | MET | c.2361A>T (p.Thr787=) c.2264+867A>T (n.2264+867A>T) c.2415A>T (p.Thr805=) c.201A>T (p.Thr67=) c.1071A>T (p.Thr357=) c.2418A>T (p.Thr806=) n.2495+867A>T | |
| 7 | g.116759488G>A | CA368982584 | MET | c.2362G>A (p.Val788Met) c.2264+868G>A (n.2264+868G>A) c.2416G>A (p.Val806Met) c.202G>A (p.Val68Met) c.1072G>A (p.Val358Met) c.2419G>A (p.Val807Met) n.2495+868G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116759488G>C | CA368982588 | MET | c.2362G>C (p.Val788Leu) c.2264+868G>C (n.2264+868G>C) c.2416G>C (p.Val806Leu) c.202G>C (p.Val68Leu) c.1072G>C (p.Val358Leu) c.2419G>C (p.Val807Leu) n.2495+868G>C | dbSNP |
| 7 | g.116759488G= | CA1737025559 | MET | c.2362G= (p.Val788=) c.2264+868G= (n.2264+868G=) c.2416G= (p.Val806=) c.202G= (p.Val68=) c.1072G= (p.Val358=) c.2419G= (p.Val807=) n.2495+868G= | |
| 7 | g.116759488G>T | CA368982591 | MET | c.2362G>T (p.Val788Leu) c.2264+868G>T (n.2264+868G>T) c.2416G>T (p.Val806Leu) c.202G>T (p.Val68Leu) c.1072G>T (p.Val358Leu) c.2419G>T (p.Val807Leu) n.2495+868G>T | |
| 7 | g.116759489T>A | CA368982597 | MET | c.2363T>A (p.Val788Glu) c.2264+869T>A (n.2264+869T>A) c.2417T>A (p.Val806Glu) c.203T>A (p.Val68Glu) c.1073T>A (p.Val358Glu) c.2420T>A (p.Val807Glu) n.2495+869T>A | ClinVar |
| 7 | g.116759489T>C | CA334301 | MET | c.2363T>C (p.Val788Ala) c.2264+869T>C (n.2264+869T>C) c.2417T>C (p.Val806Ala) c.203T>C (p.Val68Ala) c.1073T>C (p.Val358Ala) c.2420T>C (p.Val807Ala) n.2495+869T>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.116759489T>G | CA368982601 | MET | c.2363T>G (p.Val788Gly) c.2264+869T>G (n.2264+869T>G) c.2417T>G (p.Val806Gly) c.203T>G (p.Val68Gly) c.1073T>G (p.Val358Gly) c.2420T>G (p.Val807Gly) n.2495+869T>G | ClinVar |
| 7 | g.116759489T= | CA1737025570 | MET | c.2363T= (p.Val788=) c.2264+869T= (n.2264+869T=) c.2417T= (p.Val806=) c.203T= (p.Val68=) c.1073T= (p.Val358=) c.2420T= (p.Val807=) n.2495+869T= | |
| 7 | g.116759490G>A | CA457217342 | MET | c.2364G>A (p.Val788=) c.2264+870G>A (n.2264+870G>A) c.2418G>A (p.Val806=) c.204G>A (p.Val68=) c.1074G>A (p.Val358=) c.2421G>A (p.Val807=) n.2495+870G>A | dbSNP |
| 7 | g.116759490G>C | CA457217344 | MET | c.2364G>C (p.Val788=) c.2264+870G>C (n.2264+870G>C) c.2418G>C (p.Val806=) c.204G>C (p.Val68=) c.1074G>C (p.Val358=) c.2421G>C (p.Val807=) n.2495+870G>C | dbSNP |
| 7 | g.116759490G>T | CA457217345 | MET | c.2364G>T (p.Val788=) c.2264+870G>T (n.2264+870G>T) c.2418G>T (p.Val806=) c.204G>T (p.Val68=) c.1074G>T (p.Val358=) c.2421G>T (p.Val807=) n.2495+870G>T | |
| 7 | g.116759491del | CA2684591314 | MET | c.2364+1del c.2264+871del (n.2264+871del) c.2418+1del c.204+1del c.1074+1del c.2421+1del n.2495+871del | gnomAD v4 |
| 7 | g.116759491G>A | CA368982603 | MET | c.2364+1G>A (n.2364+1G>A) c.2264+871G>A (n.2264+871G>A) c.2418+1G>A (n.2418+1G>A) c.204+1G>A (n.204+1G>A) c.1074+1G>A (n.1074+1G>A) c.2421+1G>A (n.2421+1G>A) n.2495+871G>A | dbSNP |
| 7 | g.116759491G>C | CA368982606 | MET | c.2364+1G>C (n.2364+1G>C) c.2264+871G>C (n.2264+871G>C) c.2418+1G>C (n.2418+1G>C) c.204+1G>C (n.204+1G>C) c.1074+1G>C (n.1074+1G>C) c.2421+1G>C (n.2421+1G>C) n.2495+871G>C | dbSNP |
| 7 | g.116759491G>T | CA368982607 | MET | c.2364+1G>T (n.2364+1G>T) c.2264+871G>T (n.2264+871G>T) c.2418+1G>T (n.2418+1G>T) c.204+1G>T (n.204+1G>T) c.1074+1G>T (n.1074+1G>T) c.2421+1G>T (n.2421+1G>T) n.2495+871G>T | |
| 7 | g.116759492T>A | CA368982611 | MET | c.2364+2T>A (n.2364+2T>A) c.2264+872T>A (n.2264+872T>A) c.2418+2T>A (n.2418+2T>A) c.204+2T>A (n.204+2T>A) c.1074+2T>A (n.1074+2T>A) c.2421+2T>A (n.2421+2T>A) n.2495+872T>A | dbSNP |
| 7 | g.116759492T>C | CA368982613 | MET | c.2364+2T>C (n.2364+2T>C) c.2264+872T>C (n.2264+872T>C) c.2418+2T>C (n.2418+2T>C) c.204+2T>C (n.204+2T>C) c.1074+2T>C (n.1074+2T>C) c.2421+2T>C (n.2421+2T>C) n.2495+872T>C | |
| 7 | g.116759492T>G | CA368982616 | MET | c.2364+2T>G (n.2364+2T>G) c.2264+872T>G (n.2264+872T>G) c.2418+2T>G (n.2418+2T>G) c.204+2T>G (n.204+2T>G) c.1074+2T>G (n.1074+2T>G) c.2421+2T>G (n.2421+2T>G) n.2495+872T>G | |
| 7 | g.116759493A>G | CA2580076312 | MET | c.2364+3A>G (n.2364+3A>G) c.2264+873A>G (n.2264+873A>G) c.2418+3A>G (n.2418+3A>G) c.204+3A>G (n.204+3A>G) c.1074+3A>G (n.1074+3A>G) c.2421+3A>G (n.2421+3A>G) n.2495+873A>G | ClinVar |
| 7 | g.116759495G>C | CA2715552826 | MET | c.2364+5G>C (n.2364+5G>C) c.2264+875G>C (n.2264+875G>C) c.2418+5G>C (n.2418+5G>C) c.204+5G>C (n.204+5G>C) c.1074+5G>C (n.1074+5G>C) c.2421+5G>C (n.2421+5G>C) n.2495+875G>C | dbSNP |
| 7 | g.116759496T>A | CA2715552829 | MET | c.2364+6T>A (n.2364+6T>A) c.2264+876T>A (n.2264+876T>A) c.2418+6T>A (n.2418+6T>A) c.204+6T>A (n.204+6T>A) c.1074+6T>A (n.1074+6T>A) c.2421+6T>A (n.2421+6T>A) n.2495+876T>A | dbSNP |
| 7 | g.116759496_116759497delinsTC | CA1737025576 | MET | c.2364+6_2364+7delinsTC (n.2364+6_2364+7delinsTC) c.2264+876_2264+877delinsTC (n.2264+876_2264+877delinsTC) c.2418+6_2418+7delinsTC (n.2418+6_2418+7delinsTC) c.204+6_204+7delinsTC (n.204+6_204+7delinsTC) c.1074+6_1074+7delinsTC (n.1074+6_1074+7delinsTC) c.2421+6_2421+7delinsTC (n.2421+6_2421+7delinsTC) n.2495+876_2495+877delinsTC | |
| 7 | g.116759497C>A | CA2715291990 | MET | c.2364+7C>A (n.2364+7C>A) c.2264+877C>A (n.2264+877C>A) c.2418+7C>A (n.2418+7C>A) c.204+7C>A (n.204+7C>A) c.1074+7C>A (n.1074+7C>A) c.2421+7C>A (n.2421+7C>A) n.2495+877C>A | dbSNP |
| 7 | g.116759497C= | CA1737025581 | MET | c.2364+7C= (n.2364+7C=) c.2264+877C= (n.2264+877C=) c.2418+7C= (n.2418+7C=) c.204+7C= (n.204+7C=) c.1074+7C= (n.1074+7C=) c.2421+7C= (n.2421+7C=) n.2495+877C= | |
| 7 | g.116759497C>G | CA4448458 | MET | c.2364+7C>G (n.2364+7C>G) c.2264+877C>G (n.2264+877C>G) c.2418+7C>G (n.2418+7C>G) c.204+7C>G (n.204+7C>G) c.1074+7C>G (n.1074+7C>G) c.2421+7C>G (n.2421+7C>G) n.2495+877C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116759497C>T | CA2715291989 | MET | c.2364+7C>T (n.2364+7C>T) c.2264+877C>T (n.2264+877C>T) c.2418+7C>T (n.2418+7C>T) c.204+7C>T (n.204+7C>T) c.1074+7C>T (n.1074+7C>T) c.2421+7C>T (n.2421+7C>T) n.2495+877C>T | dbSNP |
| 7 | g.116759498del | CA577214740 | MET | c.2364+8del (n.2364+8del) c.2264+878del (n.2264+878del) c.2418+8del (n.2418+8del) c.204+8del (n.204+8del) c.1074+8del (n.1074+8del) c.2421+8del (n.2421+8del) n.2495+878del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116759498C>G | CA2715552833 | MET | c.2364+8C>G (n.2364+8C>G) c.2264+878C>G (n.2264+878C>G) c.2418+8C>G (n.2418+8C>G) c.204+8C>G (n.204+8C>G) c.1074+8C>G (n.1074+8C>G) c.2421+8C>G (n.2421+8C>G) n.2495+878C>G | dbSNP |
| 7 | g.116759498C>T | CA2715552831 | MET | c.2364+8C>T (n.2364+8C>T) c.2264+878C>T (n.2264+878C>T) c.2418+8C>T (n.2418+8C>T) c.204+8C>T (n.204+8C>T) c.1074+8C>T (n.1074+8C>T) c.2421+8C>T (n.2421+8C>T) n.2495+878C>T | dbSNP |
| 7 | g.116759499T>A | CA2715552835 | MET | c.2364+9T>A (n.2364+9T>A) c.2264+879T>A (n.2264+879T>A) c.2418+9T>A (n.2418+9T>A) c.204+9T>A (n.204+9T>A) c.1074+9T>A (n.1074+9T>A) c.2421+9T>A (n.2421+9T>A) n.2495+879T>A | dbSNP |
| 7 | g.116759500T>A | CA2715552837 | MET | c.2364+10T>A (n.2364+10T>A) c.2264+880T>A (n.2264+880T>A) c.2418+10T>A (n.2418+10T>A) c.204+10T>A (n.204+10T>A) c.1074+10T>A (n.1074+10T>A) c.2421+10T>A (n.2421+10T>A) n.2495+880T>A | dbSNP |
| 7 | g.116759500T>C | CA2684591315 | MET | c.2364+10T>C (n.2364+10T>C) c.2264+880T>C (n.2264+880T>C) c.2418+10T>C (n.2418+10T>C) c.204+10T>C (n.204+10T>C) c.1074+10T>C (n.1074+10T>C) c.2421+10T>C (n.2421+10T>C) n.2495+880T>C | gnomAD v4 |
| 7 | g.116759501T>A | CA2715552841 | MET | c.2364+11T>A (n.2364+11T>A) c.2264+881T>A (n.2264+881T>A) c.2418+11T>A (n.2418+11T>A) c.204+11T>A (n.204+11T>A) c.1074+11T>A (n.1074+11T>A) c.2421+11T>A (n.2421+11T>A) n.2495+881T>A | dbSNP |
| 7 | g.116759501T>G | CA2573141521 | MET | c.2364+11T>G (n.2364+11T>G) c.2264+881T>G (n.2264+881T>G) c.2418+11T>G (n.2418+11T>G) c.204+11T>G (n.204+11T>G) c.1074+11T>G (n.1074+11T>G) c.2421+11T>G (n.2421+11T>G) n.2495+881T>G | ClinVar dbSNP |
| 7 | g.116759502G>A | CA2715552843 | MET | c.2364+12G>A (n.2364+12G>A) c.2264+882G>A (n.2264+882G>A) c.2418+12G>A (n.2418+12G>A) c.204+12G>A (n.204+12G>A) c.1074+12G>A (n.1074+12G>A) c.2421+12G>A (n.2421+12G>A) n.2495+882G>A | dbSNP |
| 7 | g.116759502G>C | CA2715552842 | MET | c.2364+12G>C (n.2364+12G>C) c.2264+882G>C (n.2264+882G>C) c.2418+12G>C (n.2418+12G>C) c.204+12G>C (n.204+12G>C) c.1074+12G>C (n.1074+12G>C) c.2421+12G>C (n.2421+12G>C) n.2495+882G>C | dbSNP |
| 7 | g.116759502G>T | CA2684591316 | MET | c.2364+12G>T (n.2364+12G>T) c.2264+882G>T (n.2264+882G>T) c.2418+12G>T (n.2418+12G>T) c.204+12G>T (n.204+12G>T) c.1074+12G>T (n.1074+12G>T) c.2421+12G>T (n.2421+12G>T) n.2495+882G>T | gnomAD v4 |
| 7 | g.116759503A>G | CA2739279319 | MET | c.2364+13A>G (n.2364+13A>G) c.2264+883A>G (n.2264+883A>G) c.2418+13A>G (n.2418+13A>G) c.204+13A>G (n.204+13A>G) c.1074+13A>G (n.1074+13A>G) c.2421+13A>G (n.2421+13A>G) n.2495+883A>G | ClinVar |
| 7 | g.116759503A>T | CA2715552844 | MET | c.2364+13A>T (n.2364+13A>T) c.2264+883A>T (n.2264+883A>T) c.2418+13A>T (n.2418+13A>T) c.204+13A>T (n.204+13A>T) c.1074+13A>T (n.1074+13A>T) c.2421+13A>T (n.2421+13A>T) n.2495+883A>T | dbSNP |
| 7 | g.116759504G>A | CA2684591317 | MET | c.2364+14G>A (n.2364+14G>A) c.2264+884G>A (n.2264+884G>A) c.2418+14G>A (n.2418+14G>A) c.204+14G>A (n.204+14G>A) c.1074+14G>A (n.1074+14G>A) c.2421+14G>A (n.2421+14G>A) n.2495+884G>A | dbSNP gnomAD v4 |
| 7 | g.116759504G>C | CA2715552845 | MET | c.2364+14G>C (n.2364+14G>C) c.2264+884G>C (n.2264+884G>C) c.2418+14G>C (n.2418+14G>C) c.204+14G>C (n.204+14G>C) c.1074+14G>C (n.1074+14G>C) c.2421+14G>C (n.2421+14G>C) n.2495+884G>C | dbSNP |
| 7 | g.116759505C>A | CA1106249145 | MET | c.2364+15C>A (n.2364+15C>A) c.2264+885C>A (n.2264+885C>A) c.2418+15C>A (n.2418+15C>A) c.204+15C>A (n.204+15C>A) c.1074+15C>A (n.1074+15C>A) c.2421+15C>A (n.2421+15C>A) n.2495+885C>A | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116759505C= | CA1737025588 | MET | c.2364+15C= (n.2364+15C=) c.2264+885C= (n.2264+885C=) c.2418+15C= (n.2418+15C=) c.204+15C= (n.204+15C=) c.1074+15C= (n.1074+15C=) c.2421+15C= (n.2421+15C=) n.2495+885C= | |
| 7 | g.116759505C>G | CA2715355863 | MET | c.2364+15C>G (n.2364+15C>G) c.2264+885C>G (n.2264+885C>G) c.2418+15C>G (n.2418+15C>G) c.204+15C>G (n.204+15C>G) c.1074+15C>G (n.1074+15C>G) c.2421+15C>G (n.2421+15C>G) n.2495+885C>G | dbSNP |
| 7 | g.116759507A= | CA1737025592 | MET | c.2364+17A= (n.2364+17A=) c.2264+887A= (n.2264+887A=) c.2418+17A= (n.2418+17A=) c.204+17A= (n.204+17A=) c.1074+17A= (n.1074+17A=) c.2421+17A= (n.2421+17A=) n.2495+887A= | |
| 7 | g.116759507A>C | CA2715311206 | MET | c.2364+17A>C (n.2364+17A>C) c.2264+887A>C (n.2264+887A>C) c.2418+17A>C (n.2418+17A>C) c.204+17A>C (n.204+17A>C) c.1074+17A>C (n.1074+17A>C) c.2421+17A>C (n.2421+17A>C) n.2495+887A>C | dbSNP |
| 7 | g.116759507A>G | CA577214745 | MET | c.2364+17A>G (n.2364+17A>G) c.2264+887A>G (n.2264+887A>G) c.2418+17A>G (n.2418+17A>G) c.204+17A>G (n.204+17A>G) c.1074+17A>G (n.1074+17A>G) c.2421+17A>G (n.2421+17A>G) n.2495+887A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116759507A>T | CA2715311205 | MET | c.2364+17A>T (n.2364+17A>T) c.2264+887A>T (n.2264+887A>T) c.2418+17A>T (n.2418+17A>T) c.204+17A>T (n.204+17A>T) c.1074+17A>T (n.1074+17A>T) c.2421+17A>T (n.2421+17A>T) n.2495+887A>T | dbSNP |
| 7 | g.116759508T>A | CA2715552848 | MET | c.2364+18T>A (n.2364+18T>A) c.2264+888T>A (n.2264+888T>A) c.2418+18T>A (n.2418+18T>A) c.204+18T>A (n.204+18T>A) c.1074+18T>A (n.1074+18T>A) c.2421+18T>A (n.2421+18T>A) n.2495+888T>A | dbSNP |
| 7 | g.116759508T>C | CA2580076314 | MET | c.2364+18T>C (n.2364+18T>C) c.2264+888T>C (n.2264+888T>C) c.2418+18T>C (n.2418+18T>C) c.204+18T>C (n.204+18T>C) c.1074+18T>C (n.1074+18T>C) c.2421+18T>C (n.2421+18T>C) n.2495+888T>C | ClinVar |
| 7 | g.116759509G>A | CA577214750 | MET | c.2364+19G>A (n.2364+19G>A) c.2264+889G>A (n.2264+889G>A) c.2418+19G>A (n.2418+19G>A) c.204+19G>A (n.204+19G>A) c.1074+19G>A (n.1074+19G>A) c.2421+19G>A (n.2421+19G>A) n.2495+889G>A | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116759509G= | CA1737025594 | MET | c.2364+19G= (n.2364+19G=) c.2264+889G= (n.2264+889G=) c.2418+19G= (n.2418+19G=) c.204+19G= (n.204+19G=) c.1074+19G= (n.1074+19G=) c.2421+19G= (n.2421+19G=) n.2495+889G= | |
| 7 | g.116759509G>T | CA4448459 | MET | c.2364+19G>T (n.2364+19G>T) c.2264+889G>T (n.2264+889G>T) c.2418+19G>T (n.2418+19G>T) c.204+19G>T (n.204+19G>T) c.1074+19G>T (n.1074+19G>T) c.2421+19G>T (n.2421+19G>T) n.2495+889G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116759510G>A | CA2715552852 | MET | c.2364+20G>A (n.2364+20G>A) c.2264+890G>A (n.2264+890G>A) c.2418+20G>A (n.2418+20G>A) c.204+20G>A (n.204+20G>A) c.1074+20G>A (n.1074+20G>A) c.2421+20G>A (n.2421+20G>A) n.2495+890G>A | dbSNP |
| 7 | g.116759510G>C | CA2715552850 | MET | c.2364+20G>C (n.2364+20G>C) c.2264+890G>C (n.2264+890G>C) c.2418+20G>C (n.2418+20G>C) c.204+20G>C (n.204+20G>C) c.1074+20G>C (n.1074+20G>C) c.2421+20G>C (n.2421+20G>C) n.2495+890G>C | dbSNP |
| 7 | g.116759510_116759511delinsGT | CA1737025603 | MET | c.2364+20_2364+21delinsGT (n.2364+20_2364+21delinsGT) c.2264+890_2264+891delinsGT (n.2264+890_2264+891delinsGT) c.2418+20_2418+21delinsGT (n.2418+20_2418+21delinsGT) c.204+20_204+21delinsGT (n.204+20_204+21delinsGT) c.1074+20_1074+21delinsGT (n.1074+20_1074+21delinsGT) c.2421+20_2421+21delinsGT (n.2421+20_2421+21delinsGT) n.2495+890_2495+891delinsGT | |
| 7 | g.116759511T>C | CA2777571745 | MET | c.2364+21T>C (n.2364+21T>C) c.2264+891T>C (n.2264+891T>C) c.2418+21T>C (n.2418+21T>C) c.204+21T>C (n.204+21T>C) c.1074+21T>C (n.1074+21T>C) c.2421+21T>C (n.2421+21T>C) n.2495+891T>C | |
| 7 | g.116759512del | CA577214752 | MET | c.2364+22del (n.2364+22del) c.2264+892del (n.2264+892del) c.2418+22del (n.2418+22del) c.204+22del (n.204+22del) c.1074+22del (n.1074+22del) c.2421+22del (n.2421+22del) n.2495+892del | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116759512T>A | CA2715552855 | MET | c.2364+22T>A (n.2364+22T>A) c.2264+892T>A (n.2264+892T>A) c.2418+22T>A (n.2418+22T>A) c.204+22T>A (n.204+22T>A) c.1074+22T>A (n.1074+22T>A) c.2421+22T>A (n.2421+22T>A) n.2495+892T>A | dbSNP |
| 7 | g.116759513C>A | CA2715552860 | MET | c.2364+23C>A (n.2364+23C>A) c.2264+893C>A (n.2264+893C>A) c.2418+23C>A (n.2418+23C>A) c.204+23C>A (n.204+23C>A) c.1074+23C>A (n.1074+23C>A) c.2421+23C>A (n.2421+23C>A) n.2495+893C>A | dbSNP |
| 7 | g.116759513C>G | CA2715552858 | MET | c.2364+23C>G (n.2364+23C>G) c.2264+893C>G (n.2264+893C>G) c.2418+23C>G (n.2418+23C>G) c.204+23C>G (n.204+23C>G) c.1074+23C>G (n.1074+23C>G) c.2421+23C>G (n.2421+23C>G) n.2495+893C>G | dbSNP |
| 7 | g.116759513C>T | CA2715552862 | MET | c.2364+23C>T (n.2364+23C>T) c.2264+893C>T (n.2264+893C>T) c.2418+23C>T (n.2418+23C>T) c.204+23C>T (n.204+23C>T) c.1074+23C>T (n.1074+23C>T) c.2421+23C>T (n.2421+23C>T) n.2495+893C>T | dbSNP |