| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.116771814_116771850delinsA | CA2573332102 | MET | c.*493-35_*494delinsA c.2942-35_2943delinsA c.2888-35_2889delinsA c.283+160_283+196delinsA (n.283+160_283+196delinsA) c.1598-35_1599delinsA c.2945-35_2946delinsA n.3019-35_3020delinsA | |
| 7 | g.116771821_116771847del | CA2580076355 | MET | c.*493-28_*493-2del (n.*493-28_*493-2del) c.2942-28_2942-2del (n.2942-28_2942-2del) c.2888-28_2888-2del (n.2888-28_2888-2del) c.283+167_283+193del (n.283+167_283+193del) c.1598-28_1598-2del (n.1598-28_1598-2del) c.2945-28_2945-2del (n.2945-28_2945-2del) n.3019-28_3019-2del | ClinVar |
| 7 | g.116771828_116771848del | CA2573332784 | MET | c.*493-21_*493-1del (n.*493-21_*493-1del) c.2942-21_2942-1del (n.2942-21_2942-1del) c.2888-21_2888-1del (n.2888-21_2888-1del) c.283+174_283+194del (n.283+174_283+194del) c.1598-21_1598-1del (n.1598-21_1598-1del) c.2945-21_2945-1del (n.2945-21_2945-1del) n.3019-21_3019-1del | |
| 7 | g.116771829_116771850del | CA645567303 | MET | c.*493-20_*494del c.2942-20_2943del c.2888-20_2889del c.283+175_283+196del (n.283+175_283+196del) c.1598-20_1599del c.2945-20_2946del n.3019-20_3020del | COSMIC |
| 7 | g.116771829_116771847del | CA2715553248 | MET | c.*493-20_*493-2del (n.*493-20_*493-2del) c.2942-20_2942-2del (n.2942-20_2942-2del) c.2888-20_2888-2del (n.2888-20_2888-2del) c.283+175_283+193del (n.283+175_283+193del) c.1598-20_1598-2del (n.1598-20_1598-2del) c.2945-20_2945-2del (n.2945-20_2945-2del) n.3019-20_3019-2del | dbSNP |
| 7 | g.116771829_116771848del | CA645567304 | MET | c.*493-20_*493-1del (n.*493-20_*493-1del) c.2942-20_2942-1del (n.2942-20_2942-1del) c.2888-20_2888-1del (n.2888-20_2888-1del) c.283+175_283+194del (n.283+175_283+194del) c.1598-20_1598-1del (n.1598-20_1598-1del) c.2945-20_2945-1del (n.2945-20_2945-1del) n.3019-20_3019-1del | COSMIC |
| 7 | g.116771833_116771852del | CA891841999 | MET | c.*493-16_*496del c.2942-16_2945del c.2888-16_2891del c.283+179_283+198del (n.283+179_283+198del) c.1598-16_1601del c.2945-16_2948del n.3019-16_3022del | |
| 7 | g.116771832_116771848del | CA2715553259 | MET | c.*493-17_*493-1del (n.*493-17_*493-1del) c.2942-17_2942-1del (n.2942-17_2942-1del) c.2888-17_2888-1del (n.2888-17_2888-1del) c.283+178_283+194del (n.283+178_283+194del) c.1598-17_1598-1del (n.1598-17_1598-1del) c.2945-17_2945-1del (n.2945-17_2945-1del) n.3019-17_3019-1del | dbSNP |
| 7 | g.116771832_116771848delinsAA | CA2715553260 | MET | c.*493-17_*493-1delinsAA (n.*493-17_*493-1delinsAA) c.2942-17_2942-1delinsAA (n.2942-17_2942-1delinsAA) c.2888-17_2888-1delinsAA (n.2888-17_2888-1delinsAA) c.283+178_283+194delinsAA (n.283+178_283+194delinsAA) c.1598-17_1598-1delinsAA (n.1598-17_1598-1delinsAA) c.2945-17_2945-1delinsAA (n.2945-17_2945-1delinsAA) n.3019-17_3019-1delinsAA | dbSNP |
| 7 | g.116771833_116771850del | CA891842000 | MET | c.*493-16_*494del c.2942-16_2943del c.2888-16_2889del c.283+179_283+196del (n.283+179_283+196del) c.1598-16_1599del c.2945-16_2946del n.3019-16_3020del | dbSNP |
| 7 | g.116771834_116771852del | CA2715553262 | MET | c.*493-15_*496del c.2942-15_2945del c.2888-15_2891del c.283+180_283+198del (n.283+180_283+198del) c.1598-15_1601del c.2945-15_2948del n.3019-15_3022del | dbSNP |
| 7 | g.116771833_116771863delinsC | CA2573334445 | MET | c.*493-16_*507delinsC c.2942-16_2956delinsC c.2888-16_2902delinsC c.283+179_283+209delinsC (n.283+179_283+209delinsC) c.1598-16_1612delinsC c.2945-16_2959delinsC n.3019-16_3033delinsC | |
| 7 | g.116771833_116774884del | CA645567307 | MET | c.*493-16_*637del c.2942-16_3086del c.2888-16_3032del c.283+179_287del c.1598-16_1742del c.2945-16_3089del n.3019-16_3163del | COSMIC |
| 7 | g.116771835_116771867del | CA891842003 | MET | c.*493-14_*511del c.2942-14_2960del c.2888-14_2906del c.283+181_283+213del (n.283+181_283+213del) c.1598-14_1616del c.2945-14_2963del n.3019-14_3037del | |
| 7 | g.116771835_116771851del | CA2715553266 | MET | c.*493-14_*495del c.2942-14_2944del c.2888-14_2890del c.283+181_283+197del (n.283+181_283+197del) c.1598-14_1600del c.2945-14_2947del n.3019-14_3021del | dbSNP |
| 7 | g.116771836_116771847del | CA2715553268 | MET | c.*493-13_*493-2del (n.*493-13_*493-2del) c.2942-13_2942-2del (n.2942-13_2942-2del) c.2888-13_2888-2del (n.2888-13_2888-2del) c.283+182_283+193del (n.283+182_283+193del) c.1598-13_1598-2del (n.1598-13_1598-2del) c.2945-13_2945-2del (n.2945-13_2945-2del) n.3019-13_3019-2del | dbSNP |
| 7 | g.116771836_116771872delinsC | CA2573332831 | MET | c.*493-13_*516delinsC c.2942-13_2965delinsC c.2888-13_2911delinsC c.283+182_283+218delinsC (n.283+182_283+218delinsC) c.1598-13_1621delinsC c.2945-13_2968delinsC n.3019-13_3042delinsC | |
| 7 | g.116771839_116771872del | CA2573332098 | MET | c.*493-10_*516del c.2942-10_2965del c.2888-10_2911del c.283+185_283+218del (n.283+185_283+218del) c.1598-10_1621del c.2945-10_2968del n.3019-10_3042del | |
| 7 | g.116771843_116771847delinsG | CA2715553273 | MET | c.*493-6_*493-2delinsG (n.*493-6_*493-2delinsG) c.2942-6_2942-2delinsG (n.2942-6_2942-2delinsG) c.2888-6_2888-2delinsG (n.2888-6_2888-2delinsG) c.283+189_283+193delinsG (n.283+189_283+193delinsG) c.1598-6_1598-2delinsG (n.1598-6_1598-2delinsG) c.2945-6_2945-2delinsG (n.2945-6_2945-2delinsG) n.3019-6_3019-2delinsG | dbSNP |
| 7 | g.116771843_116771870delinsA | CA2573332171 | MET | c.*493-6_*514delinsA c.2942-6_2963delinsA c.2888-6_2909delinsA c.283+189_283+216delinsA (n.283+189_283+216delinsA) c.1598-6_1619delinsA c.2945-6_2966delinsA n.3019-6_3040delinsA | |
| 7 | g.116771844_116771851delinsA | CA2580617368 | MET | c.*493-5_*495delinsA c.2942-5_2944delinsA c.2888-5_2890delinsA c.283+190_283+197delinsA (n.283+190_283+197delinsA) c.1598-5_1600delinsA c.2945-5_2947delinsA n.3019-5_3021delinsA | dbSNP |
| 7 | g.116771844_116771851delinsATA | CA2715553276 | MET | c.*493-5_*495delinsATA c.2942-5_2944delinsATA c.2888-5_2890delinsATA c.283+190_283+197delinsATA (n.283+190_283+197delinsATA) c.1598-5_1600delinsATA c.2945-5_2947delinsATA n.3019-5_3021delinsATA | dbSNP |
| 7 | g.116771849_116771989del | CA645567308 | MET | c.*493_*633del c.2942_3082del c.2888_3028del c.283+195_283+335del (n.283+195_283+335del) c.1598_1738del c.2945_3085del n.3019_3159del | COSMIC COSMIC |
| 7 | g.116771847A>C | CA368986892 | MET | c.*493-2A>C (n.*493-2A>C) c.2942-2A>C (n.2942-2A>C) c.2888-2A>C (n.2888-2A>C) c.283+193A>C (n.283+193A>C) c.1598-2A>C (n.1598-2A>C) c.2945-2A>C (n.2945-2A>C) n.3019-2A>C | |
| 7 | g.116771847A>G | CA368986895 | MET | c.*493-2A>G (n.*493-2A>G) c.2942-2A>G (n.2942-2A>G) c.2888-2A>G (n.2888-2A>G) c.283+193A>G (n.283+193A>G) c.1598-2A>G (n.1598-2A>G) c.2945-2A>G (n.2945-2A>G) n.3019-2A>G | dbSNP |
| 7 | g.116771847A>T | CA368986896 | MET | c.*493-2A>T (n.*493-2A>T) c.2942-2A>T (n.2942-2A>T) c.2888-2A>T (n.2888-2A>T) c.283+193A>T (n.283+193A>T) c.1598-2A>T (n.1598-2A>T) c.2945-2A>T (n.2945-2A>T) n.3019-2A>T | dbSNP |
| 7 | g.116771847_116771848insC | CA2715553279 | MET | c.*493-2_*493-1insC (n.*493-2_*493-1insC) c.2942-2_2942-1insC (n.2942-2_2942-1insC) c.2888-2_2888-1insC (n.2888-2_2888-1insC) c.283+193_283+194insC (n.283+193_283+194insC) c.1598-2_1598-1insC (n.1598-2_1598-1insC) c.2945-2_2945-1insC (n.2945-2_2945-1insC) n.3019-2_3019-1insC | dbSNP |
| 7 | g.116771848G>A | CA368986899 | MET | c.*493-1G>A (n.*493-1G>A) c.2942-1G>A (n.2942-1G>A) c.2888-1G>A (n.2888-1G>A) c.283+194G>A (n.283+194G>A) c.1598-1G>A (n.1598-1G>A) c.2945-1G>A (n.2945-1G>A) n.3019-1G>A | dbSNP |
| 7 | g.116771848G>C | CA368986901 | MET | c.*493-1G>C (n.*493-1G>C) c.2942-1G>C (n.2942-1G>C) c.2888-1G>C (n.2888-1G>C) c.283+194G>C (n.283+194G>C) c.1598-1G>C (n.1598-1G>C) c.2945-1G>C (n.2945-1G>C) n.3019-1G>C | dbSNP gnomAD v4 |
| 7 | g.116771848G>T | CA368986902 | MET | c.*493-1G>T (n.*493-1G>T) c.2942-1G>T (n.2942-1G>T) c.2888-1G>T (n.2888-1G>T) c.283+194G>T (n.283+194G>T) c.1598-1G>T (n.1598-1G>T) c.2945-1G>T (n.2945-1G>T) n.3019-1G>T | dbSNP |
| 7 | g.116771849A= | CA1737037566 | MET | c.*493A= (n.*493A=) c.2942A= (p.Asp981=) c.2888A= (p.Asp963=) c.283+195A= (n.283+195A=) c.1598A= (p.Asp533=) c.2945A= (p.Asp982=) n.3019A= | |
| 7 | g.116771849A>C | CA368986903 | MET | c.*493A>C (n.*493A>C) c.2942A>C (p.Asp981Ala) c.2888A>C (p.Asp963Ala) c.283+195A>C (n.283+195A>C) c.1598A>C (p.Asp533Ala) c.2945A>C (p.Asp982Ala) n.3019A>C | |
| 7 | g.116771849A>G | CA368986905 | MET | c.*493A>G (n.*493A>G) c.2942A>G (p.Asp981Gly) c.2888A>G (p.Asp963Gly) c.283+195A>G (n.283+195A>G) c.1598A>G (p.Asp533Gly) c.2945A>G (p.Asp982Gly) n.3019A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771849A>T | CA368986907 | MET | c.*493A>T (n.*493A>T) c.2942A>T (p.Asp981Val) c.2888A>T (p.Asp963Val) c.283+195A>T (n.283+195A>T) c.1598A>T (p.Asp533Val) c.2945A>T (p.Asp982Val) n.3019A>T | dbSNP |
| 7 | g.116771850_116771881del | CA2580617369 | MET | c.*494_*525del (n.*494_*525del) c.2943_2974del (p.Asp981GlufsTer9) c.2889_2920del (p.Asp963GlufsTer9) c.283+196_283+227del (n.283+196_283+227del) c.1599_1630del (p.Asp533GlufsTer9) c.2946_2977del (p.Asp982GlufsTer9) n.3020_3051del | |
| 7 | g.116771850T>A | CA368986908 | MET | c.*494T>A (n.*494T>A) c.2943T>A (p.Asp981Glu) c.2889T>A (p.Asp963Glu) c.283+196T>A (n.283+196T>A) c.1599T>A (p.Asp533Glu) c.2946T>A (p.Asp982Glu) n.3020T>A | dbSNP |
| 7 | g.116771850T>C | CA457447513 | MET | c.*494T>C (n.*494T>C) c.2943T>C (p.Asp981=) c.2889T>C (p.Asp963=) c.283+196T>C (n.283+196T>C) c.1599T>C (p.Asp533=) c.2946T>C (p.Asp982=) n.3020T>C | |
| 7 | g.116771850T>G | CA368986910 | MET | c.*494T>G (n.*494T>G) c.2943T>G (p.Asp981Glu) c.2889T>G (p.Asp963Glu) c.283+196T>G (n.283+196T>G) c.1599T>G (p.Asp533Glu) c.2946T>G (p.Asp982Glu) n.3020T>G | dbSNP |
| 7 | g.116771851C>A | CA368986912 | MET | c.*495C>A (n.*495C>A) c.2944C>A (p.Leu982Met) c.2890C>A (p.Leu964Met) c.283+197C>A (n.283+197C>A) c.1600C>A (p.Leu534Met) c.2947C>A (p.Leu983Met) n.3021C>A | |
| 7 | g.116771851C>G | CA368986914 | MET | c.*495C>G (n.*495C>G) c.2944C>G (p.Leu982Val) c.2890C>G (p.Leu964Val) c.283+197C>G (n.283+197C>G) c.1600C>G (p.Leu534Val) c.2947C>G (p.Leu983Val) n.3021C>G | ClinVar dbSNP |
| 7 | g.116771851C>T | CA457447514 | MET | c.*495C>T (n.*495C>T) c.2944C>T (p.Leu982=) c.2890C>T (p.Leu964=) c.283+197C>T (n.283+197C>T) c.1600C>T (p.Leu534=) c.2947C>T (p.Leu983=) n.3021C>T | dbSNP |
| 7 | g.116771852T>A | CA368986917 | MET | c.*496T>A (n.*496T>A) c.2945T>A (p.Leu982Gln) c.2891T>A (p.Leu964Gln) c.283+198T>A (n.283+198T>A) c.1601T>A (p.Leu534Gln) c.2948T>A (p.Leu983Gln) n.3022T>A | |
| 7 | g.116771852T>C | CA368986922 | MET | c.*496T>C (n.*496T>C) c.2945T>C (p.Leu982Pro) c.2891T>C (p.Leu964Pro) c.283+198T>C (n.283+198T>C) c.1601T>C (p.Leu534Pro) c.2948T>C (p.Leu983Pro) n.3022T>C | |
| 7 | g.116771852T>G | CA368986920 | MET | c.*496T>G (n.*496T>G) c.2945T>G (p.Leu982Arg) c.2891T>G (p.Leu964Arg) c.283+198T>G (n.283+198T>G) c.1601T>G (p.Leu534Arg) c.2948T>G (p.Leu983Arg) n.3022T>G | |
| 7 | g.116771852_116771853delinsTG | CA1737037567 | MET | c.*496_*497delinsTG (n.*496_*497delinsTG) c.2945_2946delinsTG (p.Leu982=) c.2891_2892delinsTG (p.Leu964=) c.283+198_283+199delinsTG (n.283+198_283+199delinsTG) c.1601_1602delinsTG (p.Leu534=) c.2948_2949delinsTG (p.Leu983=) n.3022_3023delinsTG | |
| 7 | g.116771853G>A | CA457447517 | MET | c.*497G>A (n.*497G>A) c.2946G>A (p.Leu982=) c.2892G>A (p.Leu964=) c.283+199G>A (n.283+199G>A) c.1602G>A (p.Leu534=) c.2949G>A (p.Leu983=) n.3023G>A | ClinVar dbSNP |
| 7 | g.116771853G>C | CA457447519 | MET | c.*497G>C (n.*497G>C) c.2946G>C (p.Leu982=) c.2892G>C (p.Leu964=) c.283+199G>C (n.283+199G>C) c.1602G>C (p.Leu534=) c.2949G>C (p.Leu983=) n.3023G>C | dbSNP |
| 7 | g.116771853G= | CA1737037568 | MET | c.*497G= (n.*497G=) c.2946G= (p.Leu982=) c.2892G= (p.Leu964=) c.283+199G= (n.283+199G=) c.1602G= (p.Leu534=) c.2949G= (p.Leu983=) n.3023G= | |
| 7 | g.116771853G>T | CA457447520 | MET | c.*497G>T (n.*497G>T) c.2946G>T (p.Leu982=) c.2892G>T (p.Leu964=) c.283+199G>T (n.283+199G>T) c.1602G>T (p.Leu534=) c.2949G>T (p.Leu983=) n.3023G>T | dbSNP |
| 7 | g.116771855del | CA832019663 | MET | c.*499del (n.*499del) c.2948del (p.Gly983AlafsTer4) c.2894del (p.Gly965AlafsTer4) c.283+201del (n.283+201del) c.1604del (p.Gly535AlafsTer4) c.2951del (p.Gly984AlafsTer4) n.3025del | dbSNP |
| 7 | g.116771854G>A | CA368986925 | MET | c.*498G>A (n.*498G>A) c.2947G>A (p.Gly983Ser) c.2893G>A (p.Gly965Ser) c.283+200G>A (n.283+200G>A) c.1603G>A (p.Gly535Ser) c.2950G>A (p.Gly984Ser) n.3024G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771854G>C | CA368986930 | MET | c.*498G>C (n.*498G>C) c.2947G>C (p.Gly983Arg) c.2893G>C (p.Gly965Arg) c.283+200G>C (n.283+200G>C) c.1603G>C (p.Gly535Arg) c.2950G>C (p.Gly984Arg) n.3024G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116771854G= | CA1737037569 | MET | c.*498G= (n.*498G=) c.2947G= (p.Gly983=) c.2893G= (p.Gly965=) c.283+200G= (n.283+200G=) c.1603G= (p.Gly535=) c.2950G= (p.Gly984=) n.3024G= | |
| 7 | g.116771854G>T | CA368986927 | MET | c.*498G>T (n.*498G>T) c.2947G>T (p.Gly983Cys) c.2893G>T (p.Gly965Cys) c.283+200G>T (n.283+200G>T) c.1603G>T (p.Gly535Cys) c.2950G>T (p.Gly984Cys) n.3024G>T | dbSNP |
| 7 | g.116771855G>A | CA368986932 | MET | c.*499G>A (n.*499G>A) c.2948G>A (p.Gly983Asp) c.2894G>A (p.Gly965Asp) c.283+201G>A (n.283+201G>A) c.1604G>A (p.Gly535Asp) c.2951G>A (p.Gly984Asp) n.3025G>A | dbSNP |
| 7 | g.116771855G>C | CA368986934 | MET | c.*499G>C (n.*499G>C) c.2948G>C (p.Gly983Ala) c.2894G>C (p.Gly965Ala) c.283+201G>C (n.283+201G>C) c.1604G>C (p.Gly535Ala) c.2951G>C (p.Gly984Ala) n.3025G>C | dbSNP |
| 7 | g.116771855G>T | CA368986936 | MET | c.*499G>T (n.*499G>T) c.2948G>T (p.Gly983Val) c.2894G>T (p.Gly965Val) c.283+201G>T (n.283+201G>T) c.1604G>T (p.Gly535Val) c.2951G>T (p.Gly984Val) n.3025G>T | dbSNP |
| 7 | g.116771856C>A | CA457447523 | MET | c.*500C>A (n.*500C>A) c.2949C>A (p.Gly983=) c.2895C>A (p.Gly965=) c.283+202C>A (n.283+202C>A) c.1605C>A (p.Gly535=) c.2952C>A (p.Gly984=) n.3026C>A | dbSNP |
| 7 | g.116771856C>G | CA457447524 | MET | c.*500C>G (n.*500C>G) c.2949C>G (p.Gly983=) c.2895C>G (p.Gly965=) c.283+202C>G (n.283+202C>G) c.1605C>G (p.Gly535=) c.2952C>G (p.Gly984=) n.3026C>G | dbSNP |
| 7 | g.116771856C>T | CA457447522 | MET | c.*500C>T (n.*500C>T) c.2949C>T (p.Gly983=) c.2895C>T (p.Gly965=) c.283+202C>T (n.283+202C>T) c.1605C>T (p.Gly535=) c.2952C>T (p.Gly984=) n.3026C>T | dbSNP gnomAD v4 |
| 7 | g.116771857A>C | CA368986937 | MET | c.*501A>C (n.*501A>C) c.2950A>C (p.Ser984Arg) c.2896A>C (p.Ser966Arg) c.283+203A>C (n.283+203A>C) c.1606A>C (p.Ser536Arg) c.2953A>C (p.Ser985Arg) n.3027A>C | ClinVar |
| 7 | g.116771857A>G | CA368986940 | MET | c.*501A>G (n.*501A>G) c.2950A>G (p.Ser984Gly) c.2896A>G (p.Ser966Gly) c.283+203A>G (n.283+203A>G) c.1606A>G (p.Ser536Gly) c.2953A>G (p.Ser985Gly) n.3027A>G | ClinVar dbSNP |
| 7 | g.116771857A>T | CA368986941 | MET | c.*501A>T (n.*501A>T) c.2950A>T (p.Ser984Cys) c.2896A>T (p.Ser966Cys) c.283+203A>T (n.283+203A>T) c.1606A>T (p.Ser536Cys) c.2953A>T (p.Ser985Cys) n.3027A>T | dbSNP |
| 7 | g.116771858G>A | CA368986944 | MET | c.*502G>A (n.*502G>A) c.2951G>A (p.Ser984Asn) c.2897G>A (p.Ser966Asn) c.283+204G>A (n.283+204G>A) c.1607G>A (p.Ser536Asn) c.2954G>A (p.Ser985Asn) n.3028G>A | ClinVar dbSNP |
| 7 | g.116771858G>C | CA368986946 | MET | c.*502G>C (n.*502G>C) c.2951G>C (p.Ser984Thr) c.2897G>C (p.Ser966Thr) c.283+204G>C (n.283+204G>C) c.1607G>C (p.Ser536Thr) c.2954G>C (p.Ser985Thr) n.3028G>C | dbSNP |
| 7 | g.116771858G= | CA1737037570 | MET | c.*502G= (n.*502G=) c.2951G= (p.Ser984=) c.2897G= (p.Ser966=) c.283+204G= (n.283+204G=) c.1607G= (p.Ser536=) c.2954G= (p.Ser985=) n.3028G= | |
| 7 | g.116771858G>T | CA368986947 | MET | c.*502G>T (n.*502G>T) c.2951G>T (p.Ser984Ile) c.2897G>T (p.Ser966Ile) c.283+204G>T (n.283+204G>T) c.1607G>T (p.Ser536Ile) c.2954G>T (p.Ser985Ile) n.3028G>T | dbSNP gnomAD v2 |
| 7 | g.116771859T>A | CA368986949 | MET | c.*503T>A (n.*503T>A) c.2952T>A (p.Ser984Arg) c.2898T>A (p.Ser966Arg) c.283+205T>A (n.283+205T>A) c.1608T>A (p.Ser536Arg) c.2955T>A (p.Ser985Arg) n.3029T>A | |
| 7 | g.116771859T>C | CA457447526 | MET | c.*503T>C (n.*503T>C) c.2952T>C (p.Ser984=) c.2898T>C (p.Ser966=) c.283+205T>C (n.283+205T>C) c.1608T>C (p.Ser536=) c.2955T>C (p.Ser985=) n.3029T>C | |
| 7 | g.116771859T>G | CA368986950 | MET | c.*503T>G (n.*503T>G) c.2952T>G (p.Ser984Arg) c.2898T>G (p.Ser966Arg) c.283+205T>G (n.283+205T>G) c.1608T>G (p.Ser536Arg) c.2955T>G (p.Ser985Arg) n.3029T>G | |
| 7 | g.116771860G>A | CA368986957 | MET | c.*504G>A (n.*504G>A) c.2953G>A (p.Glu985Lys) c.2899G>A (p.Glu967Lys) c.283+206G>A (n.283+206G>A) c.1609G>A (p.Glu537Lys) c.2956G>A (p.Glu986Lys) n.3030G>A | dbSNP |
| 7 | g.116771860G>C | CA368986955 | MET | c.*504G>C (n.*504G>C) c.2953G>C (p.Glu985Gln) c.2899G>C (p.Glu967Gln) c.283+206G>C (n.283+206G>C) c.1609G>C (p.Glu537Gln) c.2956G>C (p.Glu986Gln) n.3030G>C | dbSNP |
| 7 | g.116771860G>T | CA368986954 | MET | c.*504G>T (n.*504G>T) c.2953G>T (p.Glu985Ter) c.2899G>T (p.Glu967Ter) c.283+206G>T (n.283+206G>T) c.1609G>T (p.Glu537Ter) c.2956G>T (p.Glu986Ter) n.3030G>T | |
| 7 | g.116771861A>C | CA368986958 | MET | c.*505A>C (n.*505A>C) c.2954A>C (p.Glu985Ala) c.2900A>C (p.Glu967Ala) c.283+207A>C (n.283+207A>C) c.1610A>C (p.Glu537Ala) c.2957A>C (p.Glu986Ala) n.3031A>C | dbSNP |
| 7 | g.116771861A>G | CA368986959 | MET | c.*505A>G (n.*505A>G) c.2954A>G (p.Glu985Gly) c.2900A>G (p.Glu967Gly) c.283+207A>G (n.283+207A>G) c.1610A>G (p.Glu537Gly) c.2957A>G (p.Glu986Gly) n.3031A>G | dbSNP |
| 7 | g.116771861A>T | CA368986960 | MET | c.*505A>T (n.*505A>T) c.2954A>T (p.Glu985Val) c.2900A>T (p.Glu967Val) c.283+207A>T (n.283+207A>T) c.1610A>T (p.Glu537Val) c.2957A>T (p.Glu986Val) n.3031A>T | dbSNP |
| 7 | g.116771862A>C | CA368986961 | MET | c.*506A>C (n.*506A>C) c.2955A>C (p.Glu985Asp) c.2901A>C (p.Glu967Asp) c.283+208A>C (n.283+208A>C) c.1611A>C (p.Glu537Asp) c.2958A>C (p.Glu986Asp) n.3032A>C | |
| 7 | g.116771862A>G | CA457447528 | MET | c.*506A>G (n.*506A>G) c.2955A>G (p.Glu985=) c.2901A>G (p.Glu967=) c.283+208A>G (n.283+208A>G) c.1611A>G (p.Glu537=) c.2958A>G (p.Glu986=) n.3032A>G | ClinVar gnomAD v4 |
| 7 | g.116771862A>T | CA368986962 | MET | c.*506A>T (n.*506A>T) c.2955A>T (p.Glu985Asp) c.2901A>T (p.Glu967Asp) c.283+208A>T (n.283+208A>T) c.1611A>T (p.Glu537Asp) c.2958A>T (p.Glu986Asp) n.3032A>T | |
| 7 | g.116771863T>A | CA368986963 | MET | c.*507T>A (n.*507T>A) c.2956T>A (p.Leu986Ile) c.2902T>A (p.Leu968Ile) c.283+209T>A (n.283+209T>A) c.1612T>A (p.Leu538Ile) c.2959T>A (p.Leu987Ile) n.3033T>A | dbSNP |
| 7 | g.116771863T>C | CA457447529 | MET | c.*507T>C (n.*507T>C) c.2956T>C (p.Leu986=) c.2902T>C (p.Leu968=) c.283+209T>C (n.283+209T>C) c.1612T>C (p.Leu538=) c.2959T>C (p.Leu987=) n.3033T>C | ClinVar dbSNP |
| 7 | g.116771863T>G | CA368986964 | MET | c.*507T>G (n.*507T>G) c.2956T>G (p.Leu986Val) c.2902T>G (p.Leu968Val) c.283+209T>G (n.283+209T>G) c.1612T>G (p.Leu538Val) c.2959T>G (p.Leu987Val) n.3033T>G | dbSNP |
| 7 | g.116771864T>A | CA368986965 | MET | c.*508T>A (n.*508T>A) c.2957T>A (p.Leu986Ter) c.2903T>A (p.Leu968Ter) c.283+210T>A (n.283+210T>A) c.1613T>A (p.Leu538Ter) c.2960T>A (p.Leu987Ter) n.3034T>A | COSMIC |
| 7 | g.116771864T>C | CA368986967 | MET | c.*508T>C (n.*508T>C) c.2957T>C (p.Leu986Ser) c.2903T>C (p.Leu968Ser) c.283+210T>C (n.283+210T>C) c.1613T>C (p.Leu538Ser) c.2960T>C (p.Leu987Ser) n.3034T>C | |
| 7 | g.116771864T>G | CA368986968 | MET | c.*508T>G (n.*508T>G) c.2957T>G (p.Leu986Ter) c.2903T>G (p.Leu968Ter) c.283+210T>G (n.283+210T>G) c.1613T>G (p.Leu538Ter) c.2960T>G (p.Leu987Ter) n.3034T>G | |
| 7 | g.116771865A>C | CA368986970 | MET | c.*509A>C (n.*509A>C) c.2958A>C (p.Leu986Phe) c.2904A>C (p.Leu968Phe) c.283+211A>C (n.283+211A>C) c.1614A>C (p.Leu538Phe) c.2961A>C (p.Leu987Phe) n.3035A>C | |
| 7 | g.116771865A>G | CA457447532 | MET | c.*509A>G (n.*509A>G) c.2958A>G (p.Leu986=) c.2904A>G (p.Leu968=) c.283+211A>G (n.283+211A>G) c.1614A>G (p.Leu538=) c.2961A>G (p.Leu987=) n.3035A>G | |
| 7 | g.116771865A>T | CA368986972 | MET | c.*509A>T (n.*509A>T) c.2958A>T (p.Leu986Phe) c.2904A>T (p.Leu968Phe) c.283+211A>T (n.283+211A>T) c.1614A>T (p.Leu538Phe) c.2961A>T (p.Leu987Phe) n.3035A>T | |
| 7 | g.116771866G>A | CA368986974 | MET | c.*510G>A (n.*510G>A) c.2959G>A (p.Val987Ile) c.2905G>A (p.Val969Ile) c.283+212G>A (n.283+212G>A) c.1615G>A (p.Val539Ile) c.2962G>A (p.Val988Ile) n.3036G>A | dbSNP |
| 7 | g.116771866G>C | CA4448613 | MET | c.*510G>C (n.*510G>C) c.2959G>C (p.Val987Leu) c.2905G>C (p.Val969Leu) c.283+212G>C (n.283+212G>C) c.1615G>C (p.Val539Leu) c.2962G>C (p.Val988Leu) n.3036G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116771866G= | CA1737037571 | MET | c.*510G= (n.*510G=) c.2959G= (p.Val987=) c.2905G= (p.Val969=) c.283+212G= (n.283+212G=) c.1615G= (p.Val539=) c.2962G= (p.Val988=) n.3036G= | |
| 7 | g.116771866G>T | CA368986973 | MET | c.*510G>T (n.*510G>T) c.2959G>T (p.Val987Phe) c.2905G>T (p.Val969Phe) c.283+212G>T (n.283+212G>T) c.1615G>T (p.Val539Phe) c.2962G>T (p.Val988Phe) n.3036G>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771867T>A | CA368986979 | MET | c.*511T>A (n.*511T>A) c.2960T>A (p.Val987Asp) c.2906T>A (p.Val969Asp) c.283+213T>A (n.283+213T>A) c.1616T>A (p.Val539Asp) c.2963T>A (p.Val988Asp) n.3037T>A | dbSNP |
| 7 | g.116771867T>C | CA368986975 | MET | c.*511T>C (n.*511T>C) c.2960T>C (p.Val987Ala) c.2906T>C (p.Val969Ala) c.283+213T>C (n.283+213T>C) c.1616T>C (p.Val539Ala) c.2963T>C (p.Val988Ala) n.3037T>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771867T>G | CA368986977 | MET | c.*511T>G (n.*511T>G) c.2960T>G (p.Val987Gly) c.2906T>G (p.Val969Gly) c.283+213T>G (n.283+213T>G) c.1616T>G (p.Val539Gly) c.2963T>G (p.Val988Gly) n.3037T>G | |
| 7 | g.116771868T>A | CA457447535 | MET | c.*512T>A (n.*512T>A) c.2961T>A (p.Val987=) c.2907T>A (p.Val969=) c.283+214T>A (n.283+214T>A) c.1617T>A (p.Val539=) c.2964T>A (p.Val988=) n.3038T>A | dbSNP |
| 7 | g.116771868T>C | CA457447534 | MET | c.*512T>C (n.*512T>C) c.2961T>C (p.Val987=) c.2907T>C (p.Val969=) c.283+214T>C (n.283+214T>C) c.1617T>C (p.Val539=) c.2964T>C (p.Val988=) n.3038T>C | |
| 7 | g.116771868T>G | CA457447536 | MET | c.*512T>G (n.*512T>G) c.2961T>G (p.Val987=) c.2907T>G (p.Val969=) c.283+214T>G (n.283+214T>G) c.1617T>G (p.Val539=) c.2964T>G (p.Val988=) n.3038T>G | |
| 7 | g.116771869C>A | CA368986981 | MET | c.*513C>A (n.*513C>A) c.2962C>A (p.Arg988Ser) c.2908C>A (p.Arg970Ser) c.283+215C>A (n.283+215C>A) c.1618C>A (p.Arg540Ser) c.2965C>A (p.Arg989Ser) n.3039C>A | dbSNP |
| 7 | g.116771869C= | CA1737037572 | MET | c.*513C= (n.*513C=) c.2962C= (p.Arg988=) c.2908C= (p.Arg970=) c.283+215C= (n.283+215C=) c.1618C= (p.Arg540=) c.2965C= (p.Arg989=) n.3039C= | |
| 7 | g.116771869C>G | CA368986983 | MET | c.*513C>G (n.*513C>G) c.2962C>G (p.Arg988Gly) c.2908C>G (p.Arg970Gly) c.283+215C>G (n.283+215C>G) c.1618C>G (p.Arg540Gly) c.2965C>G (p.Arg989Gly) n.3039C>G | |
| 7 | g.116771869C>T | CA160413 | MET | c.*513C>T (n.*513C>T) c.2962C>T (p.Arg988Cys) c.2908C>T (p.Arg970Cys) c.283+215C>T (n.283+215C>T) c.1618C>T (p.Arg540Cys) c.2965C>T (p.Arg989Cys) n.3039C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116771870G>A | CA334261 | MET | c.*514G>A (n.*514G>A) c.2963G>A (p.Arg988His) c.2909G>A (p.Arg970His) c.283+216G>A (n.283+216G>A) c.1619G>A (p.Arg540His) c.2966G>A (p.Arg989His) n.3040G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116771870G>C | CA368986986 | MET | c.*514G>C (n.*514G>C) c.2963G>C (p.Arg988Pro) c.2909G>C (p.Arg970Pro) c.283+216G>C (n.283+216G>C) c.1619G>C (p.Arg540Pro) c.2966G>C (p.Arg989Pro) n.3040G>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771870G= | CA1737037573 | MET | c.*514G= (n.*514G=) c.2963G= (p.Arg988=) c.2909G= (p.Arg970=) c.283+216G= (n.283+216G=) c.1619G= (p.Arg540=) c.2966G= (p.Arg989=) n.3040G= | |
| 7 | g.116771870G>T | CA368986988 | MET | c.*514G>T (n.*514G>T) c.2963G>T (p.Arg988Leu) c.2909G>T (p.Arg970Leu) c.283+216G>T (n.283+216G>T) c.1619G>T (p.Arg540Leu) c.2966G>T (p.Arg989Leu) n.3040G>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771871C>A | CA457447537 | MET | c.*515C>A (n.*515C>A) c.2964C>A (p.Arg988=) c.2910C>A (p.Arg970=) c.283+217C>A (n.283+217C>A) c.1620C>A (p.Arg540=) c.2967C>A (p.Arg989=) n.3041C>A | dbSNP |
| 7 | g.116771871C= | CA1737037574 | MET | c.*515C= (n.*515C=) c.2964C= (p.Arg988=) c.2910C= (p.Arg970=) c.283+217C= (n.283+217C=) c.1620C= (p.Arg540=) c.2967C= (p.Arg989=) n.3041C= | |
| 7 | g.116771871C>G | CA457447538 | MET | c.*515C>G (n.*515C>G) c.2964C>G (p.Arg988=) c.2910C>G (p.Arg970=) c.283+217C>G (n.283+217C>G) c.1620C>G (p.Arg540=) c.2967C>G (p.Arg989=) n.3041C>G | dbSNP |
| 7 | g.116771871C>T | CA4448614 | MET | c.*515C>T (n.*515C>T) c.2964C>T (p.Arg988=) c.2910C>T (p.Arg970=) c.283+217C>T (n.283+217C>T) c.1620C>T (p.Arg540=) c.2967C>T (p.Arg989=) n.3041C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116771872T>A | CA368986989 | MET | c.*516T>A (n.*516T>A) c.2965T>A (p.Tyr989Asn) c.2911T>A (p.Tyr971Asn) c.283+218T>A (n.283+218T>A) c.1621T>A (p.Tyr541Asn) c.2968T>A (p.Tyr990Asn) n.3042T>A | dbSNP |
| 7 | g.116771872T>C | CA368986991 | MET | c.*516T>C (n.*516T>C) c.2965T>C (p.Tyr989His) c.2911T>C (p.Tyr971His) c.283+218T>C (n.283+218T>C) c.1621T>C (p.Tyr541His) c.2968T>C (p.Tyr990His) n.3042T>C | dbSNP |
| 7 | g.116771872T>G | CA368986993 | MET | c.*516T>G (n.*516T>G) c.2965T>G (p.Tyr989Asp) c.2911T>G (p.Tyr971Asp) c.283+218T>G (n.283+218T>G) c.1621T>G (p.Tyr541Asp) c.2968T>G (p.Tyr990Asp) n.3042T>G | |
| 7 | g.116771872_116771873insGAGT | CA2697557557 | MET | c.*516_*517insGAGT (n.*516_*517insGAGT) c.2965_2966insGAGT (p.Tyr989Ter) c.2911_2912insGAGT (p.Tyr971Ter) c.283+218_283+219insGAGT (n.283+218_283+219insGAGT) c.1621_1622insGAGT (p.Tyr541Ter) c.2968_2969insGAGT (p.Tyr990Ter) n.3042_3043insGAGT | ClinVar |
| 7 | g.116771873A= | CA1737037575 | MET | c.*517A= (n.*517A=) c.2966A= (p.Tyr989=) c.2912A= (p.Tyr971=) c.283+219A= (n.283+219A=) c.1622A= (p.Tyr541=) c.2969A= (p.Tyr990=) n.3043A= | |
| 7 | g.116771873A>C | CA368986995 | MET | c.*517A>C (n.*517A>C) c.2966A>C (p.Tyr989Ser) c.2912A>C (p.Tyr971Ser) c.283+219A>C (n.283+219A>C) c.1622A>C (p.Tyr541Ser) c.2969A>C (p.Tyr990Ser) n.3043A>C | dbSNP |
| 7 | g.116771873A>G | CA4448615 | MET | c.*517A>G (n.*517A>G) c.2966A>G (p.Tyr989Cys) c.2912A>G (p.Tyr971Cys) c.283+219A>G (n.283+219A>G) c.1622A>G (p.Tyr541Cys) c.2969A>G (p.Tyr990Cys) n.3043A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116771873A>T | CA368986994 | MET | c.*517A>T (n.*517A>T) c.2966A>T (p.Tyr989Phe) c.2912A>T (p.Tyr971Phe) c.283+219A>T (n.283+219A>T) c.1622A>T (p.Tyr541Phe) c.2969A>T (p.Tyr990Phe) n.3043A>T | ClinVar dbSNP |
| 7 | g.116771874C>A | CA368986999 | MET | c.*518C>A (n.*518C>A) c.2967C>A (p.Tyr989Ter) c.2913C>A (p.Tyr971Ter) c.283+220C>A (n.283+220C>A) c.1623C>A (p.Tyr541Ter) c.2970C>A (p.Tyr990Ter) n.3044C>A | dbSNP |
| 7 | g.116771874C= | CA1737037576 | MET | c.*518C= (n.*518C=) c.2967C= (p.Tyr989=) c.2913C= (p.Tyr971=) c.283+220C= (n.283+220C=) c.1623C= (p.Tyr541=) c.2970C= (p.Tyr990=) n.3044C= | |
| 7 | g.116771874C>G | CA368987002 | MET | c.*518C>G (n.*518C>G) c.2967C>G (p.Tyr989Ter) c.2913C>G (p.Tyr971Ter) c.283+220C>G (n.283+220C>G) c.1623C>G (p.Tyr541Ter) c.2970C>G (p.Tyr990Ter) n.3044C>G | dbSNP |
| 7 | g.116771874C>T | CA338041 | MET | c.*518C>T (n.*518C>T) c.2967C>T (p.Tyr989=) c.2913C>T (p.Tyr971=) c.283+220C>T (n.283+220C>T) c.1623C>T (p.Tyr541=) c.2970C>T (p.Tyr990=) n.3044C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116771875G>A | CA4448616 | MET | c.*519G>A (n.*519G>A) c.2968G>A (p.Asp990Asn) c.2914G>A (p.Asp972Asn) c.283+221G>A (n.283+221G>A) c.1624G>A (p.Asp542Asn) c.2971G>A (p.Asp991Asn) n.3045G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116771875G>C | CA368987007 | MET | c.*519G>C (n.*519G>C) c.2968G>C (p.Asp990His) c.2914G>C (p.Asp972His) c.283+221G>C (n.283+221G>C) c.1624G>C (p.Asp542His) c.2971G>C (p.Asp991His) n.3045G>C | dbSNP |
| 7 | g.116771875G= | CA1737037577 | MET | c.*519G= (n.*519G=) c.2968G= (p.Asp990=) c.2914G= (p.Asp972=) c.283+221G= (n.283+221G=) c.1624G= (p.Asp542=) c.2971G= (p.Asp991=) n.3045G= | |
| 7 | g.116771875G>T | CA368987008 | MET | c.*519G>T (n.*519G>T) c.2968G>T (p.Asp990Tyr) c.2914G>T (p.Asp972Tyr) c.283+221G>T (n.283+221G>T) c.1624G>T (p.Asp542Tyr) c.2971G>T (p.Asp991Tyr) n.3045G>T | dbSNP COSMIC |
| 7 | g.116771876A>C | CA368987011 | MET | c.*520A>C (n.*520A>C) c.2969A>C (p.Asp990Ala) c.2915A>C (p.Asp972Ala) c.283+222A>C (n.283+222A>C) c.1625A>C (p.Asp542Ala) c.2972A>C (p.Asp991Ala) n.3046A>C | |
| 7 | g.116771876A>G | CA368987015 | MET | c.*520A>G (n.*520A>G) c.2969A>G (p.Asp990Gly) c.2915A>G (p.Asp972Gly) c.283+222A>G (n.283+222A>G) c.1625A>G (p.Asp542Gly) c.2972A>G (p.Asp991Gly) n.3046A>G | dbSNP |
| 7 | g.116771876A>T | CA368987012 | MET | c.*520A>T (n.*520A>T) c.2969A>T (p.Asp990Val) c.2915A>T (p.Asp972Val) c.283+222A>T (n.283+222A>T) c.1625A>T (p.Asp542Val) c.2972A>T (p.Asp991Val) n.3046A>T | dbSNP |
| 7 | g.116771877T>A | CA368987016 | MET | c.*521T>A (n.*521T>A) c.2970T>A (p.Asp990Glu) c.2916T>A (p.Asp972Glu) c.283+223T>A (n.283+223T>A) c.1626T>A (p.Asp542Glu) c.2973T>A (p.Asp991Glu) n.3047T>A | dbSNP |
| 7 | g.116771877T>C | CA457447539 | MET | c.*521T>C (n.*521T>C) c.2970T>C (p.Asp990=) c.2916T>C (p.Asp972=) c.283+223T>C (n.283+223T>C) c.1626T>C (p.Asp542=) c.2973T>C (p.Asp991=) n.3047T>C | |
| 7 | g.116771877T>G | CA368987017 | MET | c.*521T>G (n.*521T>G) c.2970T>G (p.Asp990Glu) c.2916T>G (p.Asp972Glu) c.283+223T>G (n.283+223T>G) c.1626T>G (p.Asp542Glu) c.2973T>G (p.Asp991Glu) n.3047T>G | dbSNP |
| 7 | g.116771878G>A | CA368987020 | MET | c.*522G>A (n.*522G>A) c.2971G>A (p.Ala991Thr) c.2917G>A (p.Ala973Thr) c.283+224G>A (n.283+224G>A) c.1627G>A (p.Ala543Thr) c.2974G>A (p.Ala992Thr) n.3048G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.116771878G>C | CA368987022 | MET | c.*522G>C (n.*522G>C) c.2971G>C (p.Ala991Pro) c.2917G>C (p.Ala973Pro) c.283+224G>C (n.283+224G>C) c.1627G>C (p.Ala543Pro) c.2974G>C (p.Ala992Pro) n.3048G>C | |
| 7 | g.116771878G= | CA1737037578 | MET | c.*522G= (n.*522G=) c.2971G= (p.Ala991=) c.2917G= (p.Ala973=) c.283+224G= (n.283+224G=) c.1627G= (p.Ala543=) c.2974G= (p.Ala992=) n.3048G= | |
| 7 | g.116771878G>T | CA368987024 | MET | c.*522G>T (n.*522G>T) c.2971G>T (p.Ala991Ser) c.2917G>T (p.Ala973Ser) c.283+224G>T (n.283+224G>T) c.1627G>T (p.Ala543Ser) c.2974G>T (p.Ala992Ser) n.3048G>T | gnomAD v3 gnomAD v4 |
| 7 | g.116771879C>A | CA368987029 | MET | c.*523C>A (n.*523C>A) c.2972C>A (p.Ala991Glu) c.2918C>A (p.Ala973Glu) c.283+225C>A (n.283+225C>A) c.1628C>A (p.Ala543Glu) c.2975C>A (p.Ala992Glu) n.3049C>A | dbSNP |
| 7 | g.116771879C= | CA1737037579 | MET | c.*523C= (n.*523C=) c.2972C= (p.Ala991=) c.2918C= (p.Ala973=) c.283+225C= (n.283+225C=) c.1628C= (p.Ala543=) c.2975C= (p.Ala992=) n.3049C= | |
| 7 | g.116771879C>G | CA368987031 | MET | c.*523C>G (n.*523C>G) c.2972C>G (p.Ala991Gly) c.2918C>G (p.Ala973Gly) c.283+225C>G (n.283+225C>G) c.1628C>G (p.Ala543Gly) c.2975C>G (p.Ala992Gly) n.3049C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116771879C>T | CA368987027 | MET | c.*523C>T (n.*523C>T) c.2972C>T (p.Ala991Val) c.2918C>T (p.Ala973Val) c.283+225C>T (n.283+225C>T) c.1628C>T (p.Ala543Val) c.2975C>T (p.Ala992Val) n.3049C>T | dbSNP |
| 7 | g.116771880A>C | CA457447540 | MET | c.*524A>C (n.*524A>C) c.2973A>C (p.Ala991=) c.2919A>C (p.Ala973=) c.283+226A>C (n.283+226A>C) c.1629A>C (p.Ala543=) c.2976A>C (p.Ala992=) n.3050A>C | dbSNP |
| 7 | g.116771880A>G | CA457447541 | MET | c.*524A>G (n.*524A>G) c.2973A>G (p.Ala991=) c.2919A>G (p.Ala973=) c.283+226A>G (n.283+226A>G) c.1629A>G (p.Ala543=) c.2976A>G (p.Ala992=) n.3050A>G | dbSNP |
| 7 | g.116771880A>T | CA457447542 | MET | c.*524A>T (n.*524A>T) c.2973A>T (p.Ala991=) c.2919A>T (p.Ala973=) c.283+226A>T (n.283+226A>T) c.1629A>T (p.Ala543=) c.2976A>T (p.Ala992=) n.3050A>T | dbSNP gnomAD v4 |
| 7 | g.116771881A= | CA1737037580 | MET | c.*525A= (n.*525A=) c.2974A= (p.Arg992=) c.2920A= (p.Arg974=) c.283+227A= (n.283+227A=) c.1630A= (p.Arg544=) c.2977A= (p.Arg993=) n.3051A= | |
| 7 | g.116771881A>C | CA457447543 | MET | c.*525A>C (n.*525A>C) c.2974A>C (p.Arg992=) c.2920A>C (p.Arg974=) c.283+227A>C (n.283+227A>C) c.1630A>C (p.Arg544=) c.2977A>C (p.Arg993=) n.3051A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116771881A>G | CA368987033 | MET | c.*525A>G (n.*525A>G) c.2974A>G (p.Arg992Gly) c.2920A>G (p.Arg974Gly) c.283+227A>G (n.283+227A>G) c.1630A>G (p.Arg544Gly) c.2977A>G (p.Arg993Gly) n.3051A>G | ClinVar gnomAD v4 |
| 7 | g.116771881A>T | CA368987035 | MET | c.*525A>T (n.*525A>T) c.2974A>T (p.Arg992Ter) c.2920A>T (p.Arg974Ter) c.283+227A>T (n.283+227A>T) c.1630A>T (p.Arg544Ter) c.2977A>T (p.Arg993Ter) n.3051A>T | dbSNP |
| 7 | g.116771882G>A | CA368987039 | MET | c.*526G>A (n.*526G>A) c.2975G>A (p.Arg992Lys) c.2921G>A (p.Arg974Lys) c.283+228G>A (n.283+228G>A) c.1631G>A (p.Arg544Lys) c.2978G>A (p.Arg993Lys) n.3052G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771882G>C | CA368987040 | MET | c.*526G>C (n.*526G>C) c.2975G>C (p.Arg992Thr) c.2921G>C (p.Arg974Thr) c.283+228G>C (n.283+228G>C) c.1631G>C (p.Arg544Thr) c.2978G>C (p.Arg993Thr) n.3052G>C | dbSNP COSMIC |
| 7 | g.116771882G>T | CA368987043 | MET | c.*526G>T (n.*526G>T) c.2975G>T (p.Arg992Ile) c.2921G>T (p.Arg974Ile) c.283+228G>T (n.283+228G>T) c.1631G>T (p.Arg544Ile) c.2978G>T (p.Arg993Ile) n.3052G>T | |
| 7 | g.116771882_116771907del | CA2740097509 | MET | c.*526_*551del (n.*526_*551del) c.2975_3000del (p.Arg992ThrfsTer17) c.2921_2946del (p.Arg974ThrfsTer17) c.283+228_283+253del (n.283+228_283+253del) c.1631_1656del (p.Arg544ThrfsTer17) c.2978_3003del (p.Arg993ThrfsTer17) n.3052_3077del | ClinVar |
| 7 | g.116771883A>C | CA368987044 | MET | c.*527A>C (n.*527A>C) c.2976A>C (p.Arg992Ser) c.2922A>C (p.Arg974Ser) c.283+229A>C (n.283+229A>C) c.1632A>C (p.Arg544Ser) c.2979A>C (p.Arg993Ser) n.3053A>C | |
| 7 | g.116771883A>G | CA457447544 | MET | c.*527A>G (n.*527A>G) c.2976A>G (p.Arg992=) c.2922A>G (p.Arg974=) c.283+229A>G (n.283+229A>G) c.1632A>G (p.Arg544=) c.2979A>G (p.Arg993=) n.3053A>G | |
| 7 | g.116771883A>T | CA368987046 | MET | c.*527A>T (n.*527A>T) c.2976A>T (p.Arg992Ser) c.2922A>T (p.Arg974Ser) c.283+229A>T (n.283+229A>T) c.1632A>T (p.Arg544Ser) c.2979A>T (p.Arg993Ser) n.3053A>T | dbSNP |
| 7 | g.116771884G>A | CA368987048 | MET | c.*528G>A (n.*528G>A) c.2977G>A (p.Val993Ile) c.2923G>A (p.Val975Ile) c.283+230G>A (n.283+230G>A) c.1633G>A (p.Val545Ile) c.2980G>A (p.Val994Ile) n.3054G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771884G>C | CA368987050 | MET | c.*528G>C (n.*528G>C) c.2977G>C (p.Val993Leu) c.2923G>C (p.Val975Leu) c.283+230G>C (n.283+230G>C) c.1633G>C (p.Val545Leu) c.2980G>C (p.Val994Leu) n.3054G>C | dbSNP |
| 7 | g.116771884G>T | CA368987051 | MET | c.*528G>T (n.*528G>T) c.2977G>T (p.Val993Leu) c.2923G>T (p.Val975Leu) c.283+230G>T (n.283+230G>T) c.1633G>T (p.Val545Leu) c.2980G>T (p.Val994Leu) n.3054G>T | |
| 7 | g.116771885T>A | CA368987054 | MET | c.*529T>A (n.*529T>A) c.2978T>A (p.Val993Glu) c.2924T>A (p.Val975Glu) c.283+231T>A (n.283+231T>A) c.1634T>A (p.Val545Glu) c.2981T>A (p.Val994Glu) n.3055T>A | dbSNP |
| 7 | g.116771885T>C | CA368987055 | MET | c.*529T>C (n.*529T>C) c.2978T>C (p.Val993Ala) c.2924T>C (p.Val975Ala) c.283+231T>C (n.283+231T>C) c.1634T>C (p.Val545Ala) c.2981T>C (p.Val994Ala) n.3055T>C | dbSNP |
| 7 | g.116771885T>G | CA368987056 | MET | c.*529T>G (n.*529T>G) c.2978T>G (p.Val993Gly) c.2924T>G (p.Val975Gly) c.283+231T>G (n.283+231T>G) c.1634T>G (p.Val545Gly) c.2981T>G (p.Val994Gly) n.3055T>G | dbSNP |
| 7 | g.116771886A>C | CA457447545 | MET | c.*530A>C (n.*530A>C) c.2979A>C (p.Val993=) c.2925A>C (p.Val975=) c.283+232A>C (n.283+232A>C) c.1635A>C (p.Val545=) c.2982A>C (p.Val994=) n.3056A>C | ClinVar dbSNP |
| 7 | g.116771886A>G | CA457447546 | MET | c.*530A>G (n.*530A>G) c.2979A>G (p.Val993=) c.2925A>G (p.Val975=) c.283+232A>G (n.283+232A>G) c.1635A>G (p.Val545=) c.2982A>G (p.Val994=) n.3056A>G | ClinVar dbSNP |
| 7 | g.116771886A>T | CA457447547 | MET | c.*530A>T (n.*530A>T) c.2979A>T (p.Val993=) c.2925A>T (p.Val975=) c.283+232A>T (n.283+232A>T) c.1635A>T (p.Val545=) c.2982A>T (p.Val994=) n.3056A>T | dbSNP |
| 7 | g.116771887C>A | CA368987062 | MET | c.*531C>A (n.*531C>A) c.2980C>A (p.His994Asn) c.2926C>A (p.His976Asn) c.283+233C>A (n.283+233C>A) c.1636C>A (p.His546Asn) c.2983C>A (p.His995Asn) n.3057C>A | |
| 7 | g.116771887C= | CA1737037581 | MET | c.*531C= (n.*531C=) c.2980C= (p.His994=) c.2926C= (p.His976=) c.283+233C= (n.283+233C=) c.1636C= (p.His546=) c.2983C= (p.His995=) n.3057C= | |
| 7 | g.116771887C>G | CA368987057 | MET | c.*531C>G (n.*531C>G) c.2980C>G (p.His994Asp) c.2926C>G (p.His976Asp) c.283+233C>G (n.283+233C>G) c.1636C>G (p.His546Asp) c.2983C>G (p.His995Asp) n.3057C>G | dbSNP |
| 7 | g.116771887C>T | CA368987059 | MET | c.*531C>T (n.*531C>T) c.2980C>T (p.His994Tyr) c.2926C>T (p.His976Tyr) c.283+233C>T (n.283+233C>T) c.1636C>T (p.His546Tyr) c.2983C>T (p.His995Tyr) n.3057C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771888A= | CA1737037582 | MET | c.*532A= (n.*532A=) c.2981A= (p.His994=) c.2927A= (p.His976=) c.283+234A= (n.283+234A=) c.1637A= (p.His546=) c.2984A= (p.His995=) n.3058A= | |
| 7 | g.116771888A>C | CA368987064 | MET | c.*532A>C (n.*532A>C) c.2981A>C (p.His994Pro) c.2927A>C (p.His976Pro) c.283+234A>C (n.283+234A>C) c.1637A>C (p.His546Pro) c.2984A>C (p.His995Pro) n.3058A>C | dbSNP |
| 7 | g.116771888A>G | CA368987065 | MET | c.*532A>G (n.*532A>G) c.2981A>G (p.His994Arg) c.2927A>G (p.His976Arg) c.283+234A>G (n.283+234A>G) c.1637A>G (p.His546Arg) c.2984A>G (p.His995Arg) n.3058A>G | ClinVar dbSNP |
| 7 | g.116771888A>T | CA368987067 | MET | c.*532A>T (n.*532A>T) c.2981A>T (p.His994Leu) c.2927A>T (p.His976Leu) c.283+234A>T (n.283+234A>T) c.1637A>T (p.His546Leu) c.2984A>T (p.His995Leu) n.3058A>T | dbSNP |
| 7 | g.116771889C>A | CA368987069 | MET | c.*533C>A (n.*533C>A) c.2982C>A (p.His994Gln) c.2928C>A (p.His976Gln) c.283+235C>A (n.283+235C>A) c.1638C>A (p.His546Gln) c.2985C>A (p.His995Gln) n.3059C>A | |
| 7 | g.116771889C>G | CA368987072 | MET | c.*533C>G (n.*533C>G) c.2982C>G (p.His994Gln) c.2928C>G (p.His976Gln) c.283+235C>G (n.283+235C>G) c.1638C>G (p.His546Gln) c.2985C>G (p.His995Gln) n.3059C>G | dbSNP |
| 7 | g.116771889C>T | CA457447548 | MET | c.*533C>T (n.*533C>T) c.2982C>T (p.His994=) c.2928C>T (p.His976=) c.283+235C>T (n.283+235C>T) c.1638C>T (p.His546=) c.2985C>T (p.His995=) n.3059C>T | ClinVar dbSNP |
| 7 | g.116771890A= | CA1737037583 | MET | c.*534A= (n.*534A=) c.2983A= (p.Thr995=) c.2929A= (p.Thr977=) c.283+236A= (n.283+236A=) c.1639A= (p.Thr547=) c.2986A= (p.Thr996=) n.3060A= | |
| 7 | g.116771890A>C | CA368987073 | MET | c.*534A>C (n.*534A>C) c.2983A>C (p.Thr995Pro) c.2929A>C (p.Thr977Pro) c.283+236A>C (n.283+236A>C) c.1639A>C (p.Thr547Pro) c.2986A>C (p.Thr996Pro) n.3060A>C | |
| 7 | g.116771890A>G | CA368987074 | MET | c.*534A>G (n.*534A>G) c.2983A>G (p.Thr995Ala) c.2929A>G (p.Thr977Ala) c.283+236A>G (n.283+236A>G) c.1639A>G (p.Thr547Ala) c.2986A>G (p.Thr996Ala) n.3060A>G | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771890A>T | CA368987076 | MET | c.*534A>T (n.*534A>T) c.2983A>T (p.Thr995Ser) c.2929A>T (p.Thr977Ser) c.283+236A>T (n.283+236A>T) c.1639A>T (p.Thr547Ser) c.2986A>T (p.Thr996Ser) n.3060A>T | |
| 7 | g.116771890_116771989del | CA2580617370 | MET | c.*534_*633del (n.*534_*633del) c.2983_3082del (p.Thr995IlefsTer19) c.2929_3028del (p.Thr977IlefsTer19) c.283+236_283+335del (n.283+236_283+335del) c.1639_1738del (p.Thr547IlefsTer19) c.2986_3085del (p.Thr996IlefsTer19) n.3060_3159del | |
| 7 | g.116771891C>A | CA368987078 | MET | c.*535C>A (n.*535C>A) c.2984C>A (p.Thr995Asn) c.2930C>A (p.Thr977Asn) c.283+237C>A (n.283+237C>A) c.1640C>A (p.Thr547Asn) c.2987C>A (p.Thr996Asn) n.3061C>A | |
| 7 | g.116771891C= | CA1737037584 | MET | c.*535C= (n.*535C=) c.2984C= (p.Thr995=) c.2930C= (p.Thr977=) c.283+237C= (n.283+237C=) c.1640C= (p.Thr547=) c.2987C= (p.Thr996=) n.3061C= | |
| 7 | g.116771891C>G | CA368987080 | MET | c.*535C>G (n.*535C>G) c.2984C>G (p.Thr995Ser) c.2930C>G (p.Thr977Ser) c.283+237C>G (n.283+237C>G) c.1640C>G (p.Thr547Ser) c.2987C>G (p.Thr996Ser) n.3061C>G | dbSNP |
| 7 | g.116771891C>T | CA368987081 | MET | c.*535C>T (n.*535C>T) c.2984C>T (p.Thr995Ile) c.2930C>T (p.Thr977Ile) c.283+237C>T (n.283+237C>T) c.1640C>T (p.Thr547Ile) c.2987C>T (p.Thr996Ile) n.3061C>T | ClinVar dbSNP |
| 7 | g.116771892T>A | CA457447551 | MET | c.*536T>A (n.*536T>A) c.2985T>A (p.Thr995=) c.2931T>A (p.Thr977=) c.283+238T>A (n.283+238T>A) c.1641T>A (p.Thr547=) c.2988T>A (p.Thr996=) n.3062T>A | dbSNP |
| 7 | g.116771892T>C | CA457447550 | MET | c.*536T>C (n.*536T>C) c.2985T>C (p.Thr995=) c.2931T>C (p.Thr977=) c.283+238T>C (n.283+238T>C) c.1641T>C (p.Thr547=) c.2988T>C (p.Thr996=) n.3062T>C | dbSNP |
| 7 | g.116771892T>G | CA457447549 | MET | c.*536T>G (n.*536T>G) c.2985T>G (p.Thr995=) c.2931T>G (p.Thr977=) c.283+238T>G (n.283+238T>G) c.1641T>G (p.Thr547=) c.2988T>G (p.Thr996=) n.3062T>G | |
| 7 | g.116771893C>A | CA368987085 | MET | c.*537C>A (n.*537C>A) c.2986C>A (p.Pro996Thr) c.2932C>A (p.Pro978Thr) c.283+239C>A (n.283+239C>A) c.1642C>A (p.Pro548Thr) c.2989C>A (p.Pro997Thr) n.3063C>A | dbSNP |
| 7 | g.116771893C>G | CA368987087 | MET | c.*537C>G (n.*537C>G) c.2986C>G (p.Pro996Ala) c.2932C>G (p.Pro978Ala) c.283+239C>G (n.283+239C>G) c.1642C>G (p.Pro548Ala) c.2989C>G (p.Pro997Ala) n.3063C>G | dbSNP |
| 7 | g.116771893C>T | CA368987084 | MET | c.*537C>T (n.*537C>T) c.2986C>T (p.Pro996Ser) c.2932C>T (p.Pro978Ser) c.283+239C>T (n.283+239C>T) c.1642C>T (p.Pro548Ser) c.2989C>T (p.Pro997Ser) n.3063C>T | dbSNP gnomAD v4 COSMIC |
| 7 | g.116771894C>A | CA368987090 | MET | c.*538C>A (n.*538C>A) c.2987C>A (p.Pro996His) c.2933C>A (p.Pro978His) c.283+240C>A (n.283+240C>A) c.1643C>A (p.Pro548His) c.2990C>A (p.Pro997His) n.3064C>A | dbSNP |
| 7 | g.116771894C= | CA1737037585 | MET | c.*538C= (n.*538C=) c.2987C= (p.Pro996=) c.2933C= (p.Pro978=) c.283+240C= (n.283+240C=) c.1643C= (p.Pro548=) c.2990C= (p.Pro997=) n.3064C= | |
| 7 | g.116771894C>G | CA368987093 | MET | c.*538C>G (n.*538C>G) c.2987C>G (p.Pro996Arg) c.2933C>G (p.Pro978Arg) c.283+240C>G (n.283+240C>G) c.1643C>G (p.Pro548Arg) c.2990C>G (p.Pro997Arg) n.3064C>G | dbSNP |
| 7 | g.116771894C>T | CA16612265 | MET | c.*538C>T (n.*538C>T) c.2987C>T (p.Pro996Leu) c.2933C>T (p.Pro978Leu) c.283+240C>T (n.283+240C>T) c.1643C>T (p.Pro548Leu) c.2990C>T (p.Pro997Leu) n.3064C>T | ClinVar dbSNP gnomAD v2 |
| 7 | g.116771895T>A | CA457447552 | MET | c.*539T>A (n.*539T>A) c.2988T>A (p.Pro996=) c.2934T>A (p.Pro978=) c.283+241T>A (n.283+241T>A) c.1644T>A (p.Pro548=) c.2991T>A (p.Pro997=) n.3065T>A | |
| 7 | g.116771895T>C | CA457447554 | MET | c.*539T>C (n.*539T>C) c.2988T>C (p.Pro996=) c.2934T>C (p.Pro978=) c.283+241T>C (n.283+241T>C) c.1644T>C (p.Pro548=) c.2991T>C (p.Pro997=) n.3065T>C | |
| 7 | g.116771895T>G | CA457447553 | MET | c.*539T>G (n.*539T>G) c.2988T>G (p.Pro996=) c.2934T>G (p.Pro978=) c.283+241T>G (n.283+241T>G) c.1644T>G (p.Pro548=) c.2991T>G (p.Pro997=) n.3065T>G | |
| 7 | g.116771896C>A | CA368987096 | MET | c.*540C>A (n.*540C>A) c.2989C>A (p.His997Asn) c.2935C>A (p.His979Asn) c.283+242C>A (n.283+242C>A) c.1645C>A (p.His549Asn) c.2992C>A (p.His998Asn) n.3066C>A | dbSNP |
| 7 | g.116771896C= | CA1737037586 | MET | c.*540C= (n.*540C=) c.2989C= (p.His997=) c.2935C= (p.His979=) c.283+242C= (n.283+242C=) c.1645C= (p.His549=) c.2992C= (p.His998=) n.3066C= | |
| 7 | g.116771896C>G | CA368987097 | MET | c.*540C>G (n.*540C>G) c.2989C>G (p.His997Asp) c.2935C>G (p.His979Asp) c.283+242C>G (n.283+242C>G) c.1645C>G (p.His549Asp) c.2992C>G (p.His998Asp) n.3066C>G | dbSNP |
| 7 | g.116771896C>T | CA368987098 | MET | c.*540C>T (n.*540C>T) c.2989C>T (p.His997Tyr) c.2935C>T (p.His979Tyr) c.283+242C>T (n.283+242C>T) c.1645C>T (p.His549Tyr) c.2992C>T (p.His998Tyr) n.3066C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771897A>C | CA368987101 | MET | c.*541A>C (n.*541A>C) c.2990A>C (p.His997Pro) c.2936A>C (p.His979Pro) c.283+243A>C (n.283+243A>C) c.1646A>C (p.His549Pro) c.2993A>C (p.His998Pro) n.3067A>C | |
| 7 | g.116771897A>G | CA368987104 | MET | c.*541A>G (n.*541A>G) c.2990A>G (p.His997Arg) c.2936A>G (p.His979Arg) c.283+243A>G (n.283+243A>G) c.1646A>G (p.His549Arg) c.2993A>G (p.His998Arg) n.3067A>G | |
| 7 | g.116771897A>T | CA368987107 | MET | c.*541A>T (n.*541A>T) c.2990A>T (p.His997Leu) c.2936A>T (p.His979Leu) c.283+243A>T (n.283+243A>T) c.1646A>T (p.His549Leu) c.2993A>T (p.His998Leu) n.3067A>T | |
| 7 | g.116771898T>A | CA368987111 | MET | c.*542T>A (n.*542T>A) c.2991T>A (p.His997Gln) c.2937T>A (p.His979Gln) c.283+244T>A (n.283+244T>A) c.1647T>A (p.His549Gln) c.2994T>A (p.His998Gln) n.3068T>A | dbSNP |
| 7 | g.116771898T>C | CA457447555 | MET | c.*542T>C (n.*542T>C) c.2991T>C (p.His997=) c.2937T>C (p.His979=) c.283+244T>C (n.283+244T>C) c.1647T>C (p.His549=) c.2994T>C (p.His998=) n.3068T>C | ClinVar dbSNP |
| 7 | g.116771898T>G | CA368987112 | MET | c.*542T>G (n.*542T>G) c.2991T>G (p.His997Gln) c.2937T>G (p.His979Gln) c.283+244T>G (n.283+244T>G) c.1647T>G (p.His549Gln) c.2994T>G (p.His998Gln) n.3068T>G | |
| 7 | g.116771899T>A | CA368987115 | MET | c.*543T>A (n.*543T>A) c.2992T>A (p.Leu998Met) c.2938T>A (p.Leu980Met) c.283+245T>A (n.283+245T>A) c.1648T>A (p.Leu550Met) c.2995T>A (p.Leu999Met) n.3069T>A | dbSNP |
| 7 | g.116771899T>C | CA457447556 | MET | c.*543T>C (n.*543T>C) c.2992T>C (p.Leu998=) c.2938T>C (p.Leu980=) c.283+245T>C (n.283+245T>C) c.1648T>C (p.Leu550=) c.2995T>C (p.Leu999=) n.3069T>C | |
| 7 | g.116771899T>G | CA368987117 | MET | c.*543T>G (n.*543T>G) c.2992T>G (p.Leu998Val) c.2938T>G (p.Leu980Val) c.283+245T>G (n.283+245T>G) c.1648T>G (p.Leu550Val) c.2995T>G (p.Leu999Val) n.3069T>G | |
| 7 | g.116771900T>A | CA368987123 | MET | c.*544T>A (n.*544T>A) c.2993T>A (p.Leu998Ter) c.2939T>A (p.Leu980Ter) c.283+246T>A (n.283+246T>A) c.1649T>A (p.Leu550Ter) c.2996T>A (p.Leu999Ter) n.3070T>A | |
| 7 | g.116771900T>C | CA368987121 | MET | c.*544T>C (n.*544T>C) c.2993T>C (p.Leu998Ser) c.2939T>C (p.Leu980Ser) c.283+246T>C (n.283+246T>C) c.1649T>C (p.Leu550Ser) c.2996T>C (p.Leu999Ser) n.3070T>C | |
| 7 | g.116771900T>G | CA368987120 | MET | c.*544T>G (n.*544T>G) c.2993T>G (p.Leu998Trp) c.2939T>G (p.Leu980Trp) c.283+246T>G (n.283+246T>G) c.1649T>G (p.Leu550Trp) c.2996T>G (p.Leu999Trp) n.3070T>G | |
| 7 | g.116771901G>A | CA457447557 | MET | c.*545G>A (n.*545G>A) c.2994G>A (p.Leu998=) c.2940G>A (p.Leu980=) c.283+247G>A (n.283+247G>A) c.1650G>A (p.Leu550=) c.2997G>A (p.Leu999=) n.3071G>A | |
| 7 | g.116771901G>C | CA368987125 | MET | c.*545G>C (n.*545G>C) c.2994G>C (p.Leu998Phe) c.2940G>C (p.Leu980Phe) c.283+247G>C (n.283+247G>C) c.1650G>C (p.Leu550Phe) c.2997G>C (p.Leu999Phe) n.3071G>C | |
| 7 | g.116771901G>T | CA368987127 | MET | c.*545G>T (n.*545G>T) c.2994G>T (p.Leu998Phe) c.2940G>T (p.Leu980Phe) c.283+247G>T (n.283+247G>T) c.1650G>T (p.Leu550Phe) c.2997G>T (p.Leu999Phe) n.3071G>T | |
| 7 | g.116771902G>A | CA368987129 | MET | c.*546G>A (n.*546G>A) c.2995G>A (p.Asp999Asn) c.2941G>A (p.Asp981Asn) c.283+248G>A (n.283+248G>A) c.1651G>A (p.Asp551Asn) c.2998G>A (p.Asp1000Asn) n.3072G>A | ClinVar dbSNP |
| 7 | g.116771902G>C | CA368987130 | MET | c.*546G>C (n.*546G>C) c.2995G>C (p.Asp999His) c.2941G>C (p.Asp981His) c.283+248G>C (n.283+248G>C) c.1651G>C (p.Asp551His) c.2998G>C (p.Asp1000His) n.3072G>C | ClinVar dbSNP |
| 7 | g.116771902G= | CA1737037587 | MET | c.*546G= (n.*546G=) c.2995G= (p.Asp999=) c.2941G= (p.Asp981=) c.283+248G= (n.283+248G=) c.1651G= (p.Asp551=) c.2998G= (p.Asp1000=) n.3072G= | |
| 7 | g.116771902G>T | CA368987132 | MET | c.*546G>T (n.*546G>T) c.2995G>T (p.Asp999Tyr) c.2941G>T (p.Asp981Tyr) c.283+248G>T (n.283+248G>T) c.1651G>T (p.Asp551Tyr) c.2998G>T (p.Asp1000Tyr) n.3072G>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771903A>C | CA368987135 | MET | c.*547A>C (n.*547A>C) c.2996A>C (p.Asp999Ala) c.2942A>C (p.Asp981Ala) c.283+249A>C (n.283+249A>C) c.1652A>C (p.Asp551Ala) c.2999A>C (p.Asp1000Ala) n.3073A>C | dbSNP |
| 7 | g.116771903A>G | CA368987136 | MET | c.*547A>G (n.*547A>G) c.2996A>G (p.Asp999Gly) c.2942A>G (p.Asp981Gly) c.283+249A>G (n.283+249A>G) c.1652A>G (p.Asp551Gly) c.2999A>G (p.Asp1000Gly) n.3073A>G | |
| 7 | g.116771903A>T | CA368987137 | MET | c.*547A>T (n.*547A>T) c.2996A>T (p.Asp999Val) c.2942A>T (p.Asp981Val) c.283+249A>T (n.283+249A>T) c.1652A>T (p.Asp551Val) c.2999A>T (p.Asp1000Val) n.3073A>T | dbSNP |
| 7 | g.116771904T>A | CA368987140 | MET | c.*548T>A (n.*548T>A) c.2997T>A (p.Asp999Glu) c.2943T>A (p.Asp981Glu) c.283+250T>A (n.283+250T>A) c.1653T>A (p.Asp551Glu) c.3000T>A (p.Asp1000Glu) n.3074T>A | dbSNP gnomAD v4 |
| 7 | g.116771904T>C | CA457447558 | MET | c.*548T>C (n.*548T>C) c.2997T>C (p.Asp999=) c.2943T>C (p.Asp981=) c.283+250T>C (n.283+250T>C) c.1653T>C (p.Asp551=) c.3000T>C (p.Asp1000=) n.3074T>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771904T>G | CA164905054 | MET | c.*548T>G (n.*548T>G) c.2997T>G (p.Asp999Glu) c.2943T>G (p.Asp981Glu) c.283+250T>G (n.283+250T>G) c.1653T>G (p.Asp551Glu) c.3000T>G (p.Asp1000Glu) n.3074T>G | dbSNP |
| 7 | g.116771904T= | CA1737037588 | MET | c.*548T= (n.*548T=) c.2997T= (p.Asp999=) c.2943T= (p.Asp981=) c.283+250T= (n.283+250T=) c.1653T= (p.Asp551=) c.3000T= (p.Asp1000=) n.3074T= | |
| 7 | g.116771905A>C | CA457447559 | MET | c.*549A>C (n.*549A>C) c.2998A>C (p.Arg1000=) c.2944A>C (p.Arg982=) c.283+251A>C (n.283+251A>C) c.1654A>C (p.Arg552=) c.3001A>C (p.Arg1001=) n.3075A>C | |
| 7 | g.116771905A>G | CA368987145 | MET | c.*549A>G (n.*549A>G) c.2998A>G (p.Arg1000Gly) c.2944A>G (p.Arg982Gly) c.283+251A>G (n.283+251A>G) c.1654A>G (p.Arg552Gly) c.3001A>G (p.Arg1001Gly) n.3075A>G | |
| 7 | g.116771905A>T | CA368987147 | MET | c.*549A>T (n.*549A>T) c.2998A>T (p.Arg1000Trp) c.2944A>T (p.Arg982Trp) c.283+251A>T (n.283+251A>T) c.1654A>T (p.Arg552Trp) c.3001A>T (p.Arg1001Trp) n.3075A>T | |
| 7 | g.116771906G>A | CA368987150 | MET | c.*550G>A (n.*550G>A) c.2999G>A (p.Arg1000Lys) c.2945G>A (p.Arg982Lys) c.283+252G>A (n.283+252G>A) c.1655G>A (p.Arg552Lys) c.3002G>A (p.Arg1001Lys) n.3076G>A | dbSNP |
| 7 | g.116771906G>C | CA368987152 | MET | c.*550G>C (n.*550G>C) c.2999G>C (p.Arg1000Thr) c.2945G>C (p.Arg982Thr) c.283+252G>C (n.283+252G>C) c.1655G>C (p.Arg552Thr) c.3002G>C (p.Arg1001Thr) n.3076G>C | dbSNP |
| 7 | g.116771906G= | CA1737037589 | MET | c.*550G= (n.*550G=) c.2999G= (p.Arg1000=) c.2945G= (p.Arg982=) c.283+252G= (n.283+252G=) c.1655G= (p.Arg552=) c.3002G= (p.Arg1001=) n.3076G= | |
| 7 | g.116771906G>T | CA164905058 | MET | c.*550G>T (n.*550G>T) c.2999G>T (p.Arg1000Met) c.2945G>T (p.Arg982Met) c.283+252G>T (n.283+252G>T) c.1655G>T (p.Arg552Met) c.3002G>T (p.Arg1001Met) n.3076G>T | dbSNP |
| 7 | g.116771907G>A | CA457447560 | MET | c.*551G>A (n.*551G>A) c.3000G>A (p.Arg1000=) c.2946G>A (p.Arg982=) c.283+253G>A (n.283+253G>A) c.1656G>A (p.Arg552=) c.3003G>A (p.Arg1001=) n.3077G>A | dbSNP |
| 7 | g.116771907G>C | CA368987154 | MET | c.*551G>C (n.*551G>C) c.3000G>C (p.Arg1000Ser) c.2946G>C (p.Arg982Ser) c.283+253G>C (n.283+253G>C) c.1656G>C (p.Arg552Ser) c.3003G>C (p.Arg1001Ser) n.3077G>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771907G= | CA1737037590 | MET | c.*551G= (n.*551G=) c.3000G= (p.Arg1000=) c.2946G= (p.Arg982=) c.283+253G= (n.283+253G=) c.1656G= (p.Arg552=) c.3003G= (p.Arg1001=) n.3077G= | |
| 7 | g.116771907G>T | CA368987157 | MET | c.*551G>T (n.*551G>T) c.3000G>T (p.Arg1000Ser) c.2946G>T (p.Arg982Ser) c.283+253G>T (n.283+253G>T) c.1656G>T (p.Arg552Ser) c.3003G>T (p.Arg1001Ser) n.3077G>T | dbSNP |
| 7 | g.116771908C>A | CA368987158 | MET | c.*552C>A (n.*552C>A) c.3001C>A (p.Leu1001Ile) c.2947C>A (p.Leu983Ile) c.283+254C>A (n.283+254C>A) c.1657C>A (p.Leu553Ile) c.3004C>A (p.Leu1002Ile) n.3078C>A | dbSNP |
| 7 | g.116771908C>G | CA368987162 | MET | c.*552C>G (n.*552C>G) c.3001C>G (p.Leu1001Val) c.2947C>G (p.Leu983Val) c.283+254C>G (n.283+254C>G) c.1657C>G (p.Leu553Val) c.3004C>G (p.Leu1002Val) n.3078C>G | dbSNP |
| 7 | g.116771908C>T | CA368987160 | MET | c.*552C>T (n.*552C>T) c.3001C>T (p.Leu1001Phe) c.2947C>T (p.Leu983Phe) c.283+254C>T (n.283+254C>T) c.1657C>T (p.Leu553Phe) c.3004C>T (p.Leu1002Phe) n.3078C>T | dbSNP |
| 7 | g.116771909T>A | CA368987163 | MET | c.*553T>A (n.*553T>A) c.3002T>A (p.Leu1001His) c.2948T>A (p.Leu983His) c.283+255T>A (n.283+255T>A) c.1658T>A (p.Leu553His) c.3005T>A (p.Leu1002His) n.3079T>A | dbSNP COSMIC |
| 7 | g.116771909T>C | CA368987167 | MET | c.*553T>C (n.*553T>C) c.3002T>C (p.Leu1001Pro) c.2948T>C (p.Leu983Pro) c.283+255T>C (n.283+255T>C) c.1658T>C (p.Leu553Pro) c.3005T>C (p.Leu1002Pro) n.3079T>C | |
| 7 | g.116771909T>G | CA368987165 | MET | c.*553T>G (n.*553T>G) c.3002T>G (p.Leu1001Arg) c.2948T>G (p.Leu983Arg) c.283+255T>G (n.283+255T>G) c.1658T>G (p.Leu553Arg) c.3005T>G (p.Leu1002Arg) n.3079T>G | |
| 7 | g.116771910T>A | CA457447563 | MET | c.*554T>A (n.*554T>A) c.3003T>A (p.Leu1001=) c.2949T>A (p.Leu983=) c.283+256T>A (n.283+256T>A) c.1659T>A (p.Leu553=) c.3006T>A (p.Leu1002=) n.3080T>A | dbSNP |
| 7 | g.116771910T>C | CA457447562 | MET | c.*554T>C (n.*554T>C) c.3003T>C (p.Leu1001=) c.2949T>C (p.Leu983=) c.283+256T>C (n.283+256T>C) c.1659T>C (p.Leu553=) c.3006T>C (p.Leu1002=) n.3080T>C | dbSNP |
| 7 | g.116771910T>G | CA457447561 | MET | c.*554T>G (n.*554T>G) c.3003T>G (p.Leu1001=) c.2949T>G (p.Leu983=) c.283+256T>G (n.283+256T>G) c.1659T>G (p.Leu553=) c.3006T>G (p.Leu1002=) n.3080T>G | |
| 7 | g.116771911del | CA1139532614 | MET | c.*555del (n.*555del) c.3004del (p.Val1002Ter) c.2950del (p.Val984Ter) c.283+257del (n.283+257del) c.1660del (p.Val554Ter) c.3007del (p.Val1003Ter) n.3081del | |
| 7 | g.116771911G>A | CA368987170 | MET | c.*555G>A (n.*555G>A) c.3004G>A (p.Val1002Ile) c.2950G>A (p.Val984Ile) c.283+257G>A (n.283+257G>A) c.1660G>A (p.Val554Ile) c.3007G>A (p.Val1003Ile) n.3081G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771911G>C | CA368987178 | MET | c.*555G>C (n.*555G>C) c.3004G>C (p.Val1002Leu) c.2950G>C (p.Val984Leu) c.283+257G>C (n.283+257G>C) c.1660G>C (p.Val554Leu) c.3007G>C (p.Val1003Leu) n.3081G>C | ClinVar dbSNP |
| 7 | g.116771911G= | CA1737037591 | MET | c.*555G= (n.*555G=) c.3004G= (p.Val1002=) c.2950G= (p.Val984=) c.283+257G= (n.283+257G=) c.1660G= (p.Val554=) c.3007G= (p.Val1003=) n.3081G= | |
| 7 | g.116771911G>T | CA368987173 | MET | c.*555G>T (n.*555G>T) c.3004G>T (p.Val1002Leu) c.2950G>T (p.Val984Leu) c.283+257G>T (n.283+257G>T) c.1660G>T (p.Val554Leu) c.3007G>T (p.Val1003Leu) n.3081G>T | dbSNP gnomAD v2 |
| 7 | g.116771912T>A | CA368987180 | MET | c.*556T>A (n.*556T>A) c.3005T>A (p.Val1002Glu) c.2951T>A (p.Val984Glu) c.283+258T>A (n.283+258T>A) c.1661T>A (p.Val554Glu) c.3008T>A (p.Val1003Glu) n.3082T>A | |
| 7 | g.116771912T>C | CA368987181 | MET | c.*556T>C (n.*556T>C) c.3005T>C (p.Val1002Ala) c.2951T>C (p.Val984Ala) c.283+258T>C (n.283+258T>C) c.1661T>C (p.Val554Ala) c.3008T>C (p.Val1003Ala) n.3082T>C | ClinVar dbSNP gnomAD v4 COSMIC |
| 7 | g.116771912T>G | CA368987183 | MET | c.*556T>G (n.*556T>G) c.3005T>G (p.Val1002Gly) c.2951T>G (p.Val984Gly) c.283+258T>G (n.283+258T>G) c.1661T>G (p.Val554Gly) c.3008T>G (p.Val1003Gly) n.3082T>G | |
| 7 | g.116771912T= | CA1737037592 | MET | c.*556T= (n.*556T=) c.3005T= (p.Val1002=) c.2951T= (p.Val984=) c.283+258T= (n.283+258T=) c.1661T= (p.Val554=) c.3008T= (p.Val1003=) n.3082T= | |
| 7 | g.116771912dup | CA2739279962 | MET | c.*556dup (n.*556dup) c.3005dup (p.Ser1003LysfsTer15) c.2951dup (p.Ser985LysfsTer15) c.283+258dup (n.283+258dup) c.1661dup (p.Ser555LysfsTer15) c.3008dup (p.Ser1004LysfsTer15) n.3082dup | ClinVar |
| 7 | g.116771913A>C | CA457447564 | MET | c.*557A>C (n.*557A>C) c.3006A>C (p.Val1002=) c.2952A>C (p.Val984=) c.283+259A>C (n.283+259A>C) c.1662A>C (p.Val554=) c.3009A>C (p.Val1003=) n.3083A>C | |
| 7 | g.116771913A>G | CA457447565 | MET | c.*557A>G (n.*557A>G) c.3006A>G (p.Val1002=) c.2952A>G (p.Val984=) c.283+259A>G (n.283+259A>G) c.1662A>G (p.Val554=) c.3009A>G (p.Val1003=) n.3083A>G | dbSNP |
| 7 | g.116771913A>T | CA457447566 | MET | c.*557A>T (n.*557A>T) c.3006A>T (p.Val1002=) c.2952A>T (p.Val984=) c.283+259A>T (n.283+259A>T) c.1662A>T (p.Val554=) c.3009A>T (p.Val1003=) n.3083A>T | dbSNP |
| 7 | g.116771914A>C | CA368987186 | MET | c.*558A>C (n.*558A>C) c.3007A>C (p.Ser1003Arg) c.2953A>C (p.Ser985Arg) c.283+260A>C (n.283+260A>C) c.1663A>C (p.Ser555Arg) c.3010A>C (p.Ser1004Arg) n.3084A>C | |
| 7 | g.116771914A>G | CA368987187 | MET | c.*558A>G (n.*558A>G) c.3007A>G (p.Ser1003Gly) c.2953A>G (p.Ser985Gly) c.283+260A>G (n.283+260A>G) c.1663A>G (p.Ser555Gly) c.3010A>G (p.Ser1004Gly) n.3084A>G | |
| 7 | g.116771914A>T | CA368987189 | MET | c.*558A>T (n.*558A>T) c.3007A>T (p.Ser1003Cys) c.2953A>T (p.Ser985Cys) c.283+260A>T (n.283+260A>T) c.1663A>T (p.Ser555Cys) c.3010A>T (p.Ser1004Cys) n.3084A>T | dbSNP |
| 7 | g.116771915G>A | CA4448617 | MET | c.*559G>A (n.*559G>A) c.3008G>A (p.Ser1003Asn) c.2954G>A (p.Ser985Asn) c.283+261G>A (n.283+261G>A) c.1664G>A (p.Ser555Asn) c.3011G>A (p.Ser1004Asn) n.3085G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116771915G>C | CA368987190 | MET | c.*559G>C (n.*559G>C) c.3008G>C (p.Ser1003Thr) c.2954G>C (p.Ser985Thr) c.283+261G>C (n.283+261G>C) c.1664G>C (p.Ser555Thr) c.3011G>C (p.Ser1004Thr) n.3085G>C | ClinVar dbSNP |
| 7 | g.116771915G= | CA1737037593 | MET | c.*559G= (n.*559G=) c.3008G= (p.Ser1003=) c.2954G= (p.Ser985=) c.283+261G= (n.283+261G=) c.1664G= (p.Ser555=) c.3011G= (p.Ser1004=) n.3085G= | |
| 7 | g.116771915G>T | CA368987192 | MET | c.*559G>T (n.*559G>T) c.3008G>T (p.Ser1003Ile) c.2954G>T (p.Ser985Ile) c.283+261G>T (n.283+261G>T) c.1664G>T (p.Ser555Ile) c.3011G>T (p.Ser1004Ile) n.3085G>T | |
| 7 | g.116771916T>A | CA368987196 | MET | c.*560T>A (n.*560T>A) c.3009T>A (p.Ser1003Arg) c.2955T>A (p.Ser985Arg) c.283+262T>A (n.283+262T>A) c.1665T>A (p.Ser555Arg) c.3012T>A (p.Ser1004Arg) n.3086T>A | dbSNP |
| 7 | g.116771916T>C | CA457447567 | MET | c.*560T>C (n.*560T>C) c.3009T>C (p.Ser1003=) c.2955T>C (p.Ser985=) c.283+262T>C (n.283+262T>C) c.1665T>C (p.Ser555=) c.3012T>C (p.Ser1004=) n.3086T>C | |
| 7 | g.116771916T>G | CA368987198 | MET | c.*560T>G (n.*560T>G) c.3009T>G (p.Ser1003Arg) c.2955T>G (p.Ser985Arg) c.283+262T>G (n.283+262T>G) c.1665T>G (p.Ser555Arg) c.3012T>G (p.Ser1004Arg) n.3086T>G | dbSNP |
| 7 | g.116771917G>A | CA368987200 | MET | c.*561G>A (n.*561G>A) c.3010G>A (p.Ala1004Thr) c.2956G>A (p.Ala986Thr) c.283+263G>A (n.283+263G>A) c.1666G>A (p.Ala556Thr) c.3013G>A (p.Ala1005Thr) n.3087G>A | |
| 7 | g.116771917G>C | CA368987202 | MET | c.*561G>C (n.*561G>C) c.3010G>C (p.Ala1004Pro) c.2956G>C (p.Ala986Pro) c.283+263G>C (n.283+263G>C) c.1666G>C (p.Ala556Pro) c.3013G>C (p.Ala1005Pro) n.3087G>C | |
| 7 | g.116771917G= | CA1737037594 | MET | c.*561G= (n.*561G=) c.3010G= (p.Ala1004=) c.2956G= (p.Ala986=) c.283+263G= (n.283+263G=) c.1666G= (p.Ala556=) c.3013G= (p.Ala1005=) n.3087G= | |
| 7 | g.116771917G>T | CA368987204 | MET | c.*561G>T (n.*561G>T) c.3010G>T (p.Ala1004Ser) c.2956G>T (p.Ala986Ser) c.283+263G>T (n.283+263G>T) c.1666G>T (p.Ala556Ser) c.3013G>T (p.Ala1005Ser) n.3087G>T | ClinVar dbSNP |
| 7 | g.116771918C>A | CA368987206 | MET | c.*562C>A (n.*562C>A) c.3011C>A (p.Ala1004Asp) c.2957C>A (p.Ala986Asp) c.283+264C>A (n.283+264C>A) c.1667C>A (p.Ala556Asp) c.3014C>A (p.Ala1005Asp) n.3088C>A | dbSNP COSMIC |
| 7 | g.116771918C= | CA1737037595 | MET | c.*562C= (n.*562C=) c.3011C= (p.Ala1004=) c.2957C= (p.Ala986=) c.283+264C= (n.283+264C=) c.1667C= (p.Ala556=) c.3014C= (p.Ala1005=) n.3088C= | |
| 7 | g.116771918C>G | CA368987208 | MET | c.*562C>G (n.*562C>G) c.3011C>G (p.Ala1004Gly) c.2957C>G (p.Ala986Gly) c.283+264C>G (n.283+264C>G) c.1667C>G (p.Ala556Gly) c.3014C>G (p.Ala1005Gly) n.3088C>G | dbSNP |
| 7 | g.116771918C>T | CA368987207 | MET | c.*562C>T (n.*562C>T) c.3011C>T (p.Ala1004Val) c.2957C>T (p.Ala986Val) c.283+264C>T (n.283+264C>T) c.1667C>T (p.Ala556Val) c.3014C>T (p.Ala1005Val) n.3088C>T | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116771919C>A | CA457447568 | MET | c.*563C>A (n.*563C>A) c.3012C>A (p.Ala1004=) c.2958C>A (p.Ala986=) c.283+265C>A (n.283+265C>A) c.1668C>A (p.Ala556=) c.3015C>A (p.Ala1005=) n.3089C>A | dbSNP |
| 7 | g.116771919C>G | CA457447569 | MET | c.*563C>G (n.*563C>G) c.3012C>G (p.Ala1004=) c.2958C>G (p.Ala986=) c.283+265C>G (n.283+265C>G) c.1668C>G (p.Ala556=) c.3015C>G (p.Ala1005=) n.3089C>G | dbSNP |
| 7 | g.116771919C>T | CA457447570 | MET | c.*563C>T (n.*563C>T) c.3012C>T (p.Ala1004=) c.2958C>T (p.Ala986=) c.283+265C>T (n.283+265C>T) c.1668C>T (p.Ala556=) c.3015C>T (p.Ala1005=) n.3089C>T | dbSNP |
| 7 | g.116771920C>A | CA457447571 | MET | c.*564C>A (n.*564C>A) c.3013C>A (p.Arg1005=) c.2959C>A (p.Arg987=) c.283+266C>A (n.283+266C>A) c.1669C>A (p.Arg557=) c.3016C>A (p.Arg1006=) n.3090C>A | dbSNP |
| 7 | g.116771920C= | CA1737037596 | MET | c.*564C= (n.*564C=) c.3013C= (p.Arg1005=) c.2959C= (p.Arg987=) c.283+266C= (n.283+266C=) c.1669C= (p.Arg557=) c.3016C= (p.Arg1006=) n.3090C= | |
| 7 | g.116771920C>G | CA368987211 | MET | c.*564C>G (n.*564C>G) c.3013C>G (p.Arg1005Gly) c.2959C>G (p.Arg987Gly) c.283+266C>G (n.283+266C>G) c.1669C>G (p.Arg557Gly) c.3016C>G (p.Arg1006Gly) n.3090C>G | ClinVar dbSNP COSMIC |
| 7 | g.116771920C>T | CA368987214 | MET | c.*564C>T (n.*564C>T) c.3013C>T (p.Arg1005Ter) c.2959C>T (p.Arg987Ter) c.283+266C>T (n.283+266C>T) c.1669C>T (p.Arg557Ter) c.3016C>T (p.Arg1006Ter) n.3090C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771921G>A | CA164905068 | MET | c.*565G>A (n.*565G>A) c.3014G>A (p.Arg1005Gln) c.2960G>A (p.Arg987Gln) c.283+267G>A (n.283+267G>A) c.1670G>A (p.Arg557Gln) c.3017G>A (p.Arg1006Gln) n.3091G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.116771921G>C | CA368987216 | MET | c.*565G>C (n.*565G>C) c.3014G>C (p.Arg1005Pro) c.2960G>C (p.Arg987Pro) c.283+267G>C (n.283+267G>C) c.1670G>C (p.Arg557Pro) c.3017G>C (p.Arg1006Pro) n.3091G>C | ClinVar dbSNP |
| 7 | g.116771921G= | CA1737037597 | MET | c.*565G= (n.*565G=) c.3014G= (p.Arg1005=) c.2960G= (p.Arg987=) c.283+267G= (n.283+267G=) c.1670G= (p.Arg557=) c.3017G= (p.Arg1006=) n.3091G= | |
| 7 | g.116771921G>T | CA368987218 | MET | c.*565G>T (n.*565G>T) c.3014G>T (p.Arg1005Leu) c.2960G>T (p.Arg987Leu) c.283+267G>T (n.283+267G>T) c.1670G>T (p.Arg557Leu) c.3017G>T (p.Arg1006Leu) n.3091G>T | dbSNP |
| 7 | g.116771922A>C | CA457447574 | MET | c.*566A>C (n.*566A>C) c.3015A>C (p.Arg1005=) c.2961A>C (p.Arg987=) c.283+268A>C (n.283+268A>C) c.1671A>C (p.Arg557=) c.3018A>C (p.Arg1006=) n.3092A>C | dbSNP |
| 7 | g.116771922A>G | CA457447572 | MET | c.*566A>G (n.*566A>G) c.3015A>G (p.Arg1005=) c.2961A>G (p.Arg987=) c.283+268A>G (n.283+268A>G) c.1671A>G (p.Arg557=) c.3018A>G (p.Arg1006=) n.3092A>G | dbSNP |
| 7 | g.116771922A>T | CA457447573 | MET | c.*566A>T (n.*566A>T) c.3015A>T (p.Arg1005=) c.2961A>T (p.Arg987=) c.283+268A>T (n.283+268A>T) c.1671A>T (p.Arg557=) c.3018A>T (p.Arg1006=) n.3092A>T | dbSNP |
| 7 | g.116771922_116771925del | CA2700087244 | MET | c.*566_*569del (n.*566_*569del) c.3015_3018del (p.Ser1006Ter) c.2961_2964del (p.Ser988Ter) c.283+268_283+271del (n.283+268_283+271del) c.1671_1674del (p.Ser558Ter) c.3018_3021del (p.Ser1007Ter) n.3092_3095del | |
| 7 | g.116771923A>C | CA368987221 | MET | c.*567A>C (n.*567A>C) c.3016A>C (p.Ser1006Arg) c.2962A>C (p.Ser988Arg) c.283+269A>C (n.283+269A>C) c.1672A>C (p.Ser558Arg) c.3019A>C (p.Ser1007Arg) n.3093A>C | |
| 7 | g.116771923A>G | CA368987222 | MET | c.*567A>G (n.*567A>G) c.3016A>G (p.Ser1006Gly) c.2962A>G (p.Ser988Gly) c.283+269A>G (n.283+269A>G) c.1672A>G (p.Ser558Gly) c.3019A>G (p.Ser1007Gly) n.3093A>G | |
| 7 | g.116771923A>T | CA368987223 | MET | c.*567A>T (n.*567A>T) c.3016A>T (p.Ser1006Cys) c.2962A>T (p.Ser988Cys) c.283+269A>T (n.283+269A>T) c.1672A>T (p.Ser558Cys) c.3019A>T (p.Ser1007Cys) n.3093A>T | dbSNP |
| 7 | g.116771924G>A | CA368987225 | MET | c.*568G>A (n.*568G>A) c.3017G>A (p.Ser1006Asn) c.2963G>A (p.Ser988Asn) c.283+270G>A (n.283+270G>A) c.1673G>A (p.Ser558Asn) c.3020G>A (p.Ser1007Asn) n.3094G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771924G>C | CA368987227 | MET | c.*568G>C (n.*568G>C) c.3017G>C (p.Ser1006Thr) c.2963G>C (p.Ser988Thr) c.283+270G>C (n.283+270G>C) c.1673G>C (p.Ser558Thr) c.3020G>C (p.Ser1007Thr) n.3094G>C | dbSNP |
| 7 | g.116771924G= | CA1737037598 | MET | c.*568G= (n.*568G=) c.3017G= (p.Ser1006=) c.2963G= (p.Ser988=) c.283+270G= (n.283+270G=) c.1673G= (p.Ser558=) c.3020G= (p.Ser1007=) n.3094G= | |
| 7 | g.116771924G>T | CA368987230 | MET | c.*568G>T (n.*568G>T) c.3017G>T (p.Ser1006Ile) c.2963G>T (p.Ser988Ile) c.283+270G>T (n.283+270G>T) c.1673G>T (p.Ser558Ile) c.3020G>T (p.Ser1007Ile) n.3094G>T | |
| 7 | g.116771925T>A | CA368987232 | MET | c.*569T>A (n.*569T>A) c.3018T>A (p.Ser1006Arg) c.2964T>A (p.Ser988Arg) c.283+271T>A (n.283+271T>A) c.1674T>A (p.Ser558Arg) c.3021T>A (p.Ser1007Arg) n.3095T>A | |
| 7 | g.116771925T>C | CA457447575 | MET | c.*569T>C (n.*569T>C) c.3018T>C (p.Ser1006=) c.2964T>C (p.Ser988=) c.283+271T>C (n.283+271T>C) c.1674T>C (p.Ser558=) c.3021T>C (p.Ser1007=) n.3095T>C | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771925T>G | CA368987231 | MET | c.*569T>G (n.*569T>G) c.3018T>G (p.Ser1006Arg) c.2964T>G (p.Ser988Arg) c.283+271T>G (n.283+271T>G) c.1674T>G (p.Ser558Arg) c.3021T>G (p.Ser1007Arg) n.3095T>G | |
| 7 | g.116771925T= | CA1737037599 | MET | c.*569T= (n.*569T=) c.3018T= (p.Ser1006=) c.2964T= (p.Ser988=) c.283+271T= (n.283+271T=) c.1674T= (p.Ser558=) c.3021T= (p.Ser1007=) n.3095T= | |
| 7 | g.116771926G>A | CA368987233 | MET | c.*570G>A (n.*570G>A) c.3019G>A (p.Val1007Ile) c.2965G>A (p.Val989Ile) c.283+272G>A (n.283+272G>A) c.1675G>A (p.Val559Ile) c.3022G>A (p.Val1008Ile) n.3096G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116771926G>C | CA368987235 | MET | c.*570G>C (n.*570G>C) c.3019G>C (p.Val1007Leu) c.2965G>C (p.Val989Leu) c.283+272G>C (n.283+272G>C) c.1675G>C (p.Val559Leu) c.3022G>C (p.Val1008Leu) n.3096G>C | |
| 7 | g.116771926G= | CA1737037600 | MET | c.*570G= (n.*570G=) c.3019G= (p.Val1007=) c.2965G= (p.Val989=) c.283+272G= (n.283+272G=) c.1675G= (p.Val559=) c.3022G= (p.Val1008=) n.3096G= | |
| 7 | g.116771926G>T | CA368987236 | MET | c.*570G>T (n.*570G>T) c.3019G>T (p.Val1007Leu) c.2965G>T (p.Val989Leu) c.283+272G>T (n.283+272G>T) c.1675G>T (p.Val559Leu) c.3022G>T (p.Val1008Leu) n.3096G>T | |
| 7 | g.116771927T>A | CA368987238 | MET | c.*571T>A (n.*571T>A) c.3020T>A (p.Val1007Glu) c.2966T>A (p.Val989Glu) c.283+273T>A (n.283+273T>A) c.1676T>A (p.Val559Glu) c.3023T>A (p.Val1008Glu) n.3097T>A | |
| 7 | g.116771927T>C | CA368987240 | MET | c.*571T>C (n.*571T>C) c.3020T>C (p.Val1007Ala) c.2966T>C (p.Val989Ala) c.283+273T>C (n.283+273T>C) c.1676T>C (p.Val559Ala) c.3023T>C (p.Val1008Ala) n.3097T>C | |
| 7 | g.116771927T>G | CA368987243 | MET | c.*571T>G (n.*571T>G) c.3020T>G (p.Val1007Gly) c.2966T>G (p.Val989Gly) c.283+273T>G (n.283+273T>G) c.1676T>G (p.Val559Gly) c.3023T>G (p.Val1008Gly) n.3097T>G | |
| 7 | g.116771928A= | CA1737037601 | MET | c.*572A= (n.*572A=) c.3021A= (p.Val1007=) c.2967A= (p.Val989=) c.283+274A= (n.283+274A=) c.1677A= (p.Val559=) c.3024A= (p.Val1008=) n.3098A= | |
| 7 | g.116771928A>C | CA457447576 | MET | c.*572A>C (n.*572A>C) c.3021A>C (p.Val1007=) c.2967A>C (p.Val989=) c.283+274A>C (n.283+274A>C) c.1677A>C (p.Val559=) c.3024A>C (p.Val1008=) n.3098A>C | dbSNP |
| 7 | g.116771928A>G | CA457447577 | MET | c.*572A>G (n.*572A>G) c.3021A>G (p.Val1007=) c.2967A>G (p.Val989=) c.283+274A>G (n.283+274A>G) c.1677A>G (p.Val559=) c.3024A>G (p.Val1008=) n.3098A>G | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116771928A>T | CA457447578 | MET | c.*572A>T (n.*572A>T) c.3021A>T (p.Val1007=) c.2967A>T (p.Val989=) c.283+274A>T (n.283+274A>T) c.1677A>T (p.Val559=) c.3024A>T (p.Val1008=) n.3098A>T | dbSNP gnomAD v4 |
| 7 | g.116771929A>C | CA368987249 | MET | c.*573A>C (n.*573A>C) c.3022A>C (p.Ser1008Arg) c.2968A>C (p.Ser990Arg) c.283+275A>C (n.283+275A>C) c.1678A>C (p.Ser560Arg) c.3025A>C (p.Ser1009Arg) n.3099A>C | |
| 7 | g.116771929A>G | CA368987246 | MET | c.*573A>G (n.*573A>G) c.3022A>G (p.Ser1008Gly) c.2968A>G (p.Ser990Gly) c.283+275A>G (n.283+275A>G) c.1678A>G (p.Ser560Gly) c.3025A>G (p.Ser1009Gly) n.3099A>G | |
| 7 | g.116771929A>T | CA368987245 | MET | c.*573A>T (n.*573A>T) c.3022A>T (p.Ser1008Cys) c.2968A>T (p.Ser990Cys) c.283+275A>T (n.283+275A>T) c.1678A>T (p.Ser560Cys) c.3025A>T (p.Ser1009Cys) n.3099A>T | dbSNP |
| 7 | g.116771930G>A | CA368987252 | MET | c.*574G>A (n.*574G>A) c.3023G>A (p.Ser1008Asn) c.2969G>A (p.Ser990Asn) c.283+276G>A (n.283+276G>A) c.1679G>A (p.Ser560Asn) c.3026G>A (p.Ser1009Asn) n.3100G>A | |
| 7 | g.116771930G>C | CA368987254 | MET | c.*574G>C (n.*574G>C) c.3023G>C (p.Ser1008Thr) c.2969G>C (p.Ser990Thr) c.283+276G>C (n.283+276G>C) c.1679G>C (p.Ser560Thr) c.3026G>C (p.Ser1009Thr) n.3100G>C | |
| 7 | g.116771930G>T | CA368987255 | MET | c.*574G>T (n.*574G>T) c.3023G>T (p.Ser1008Ile) c.2969G>T (p.Ser990Ile) c.283+276G>T (n.283+276G>T) c.1679G>T (p.Ser560Ile) c.3026G>T (p.Ser1009Ile) n.3100G>T | |
| 7 | g.116771931C>A | CA368987257 | MET | c.*575C>A (n.*575C>A) c.3024C>A (p.Ser1008Arg) c.2970C>A (p.Ser990Arg) c.283+277C>A (n.283+277C>A) c.1680C>A (p.Ser560Arg) c.3027C>A (p.Ser1009Arg) n.3101C>A | ClinVar dbSNP |
| 7 | g.116771931C= | CA1737037602 | MET | c.*575C= (n.*575C=) c.3024C= (p.Ser1008=) c.2970C= (p.Ser990=) c.283+277C= (n.283+277C=) c.1680C= (p.Ser560=) c.3027C= (p.Ser1009=) n.3101C= | |
| 7 | g.116771931C>G | CA368987259 | MET | c.*575C>G (n.*575C>G) c.3024C>G (p.Ser1008Arg) c.2970C>G (p.Ser990Arg) c.283+277C>G (n.283+277C>G) c.1680C>G (p.Ser560Arg) c.3027C>G (p.Ser1009Arg) n.3101C>G | |
| 7 | g.116771931C>T | CA4448618 | MET | c.*575C>T (n.*575C>T) c.3024C>T (p.Ser1008=) c.2970C>T (p.Ser990=) c.283+277C>T (n.283+277C>T) c.1680C>T (p.Ser560=) c.3027C>T (p.Ser1009=) n.3101C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116771932C>A | CA368987262 | MET | c.*576C>A (n.*576C>A) c.3025C>A (p.Pro1009Thr) c.2971C>A (p.Pro991Thr) c.283+278C>A (n.283+278C>A) c.1681C>A (p.Pro561Thr) c.3028C>A (p.Pro1010Thr) n.3102C>A | |
| 7 | g.116771932C= | CA1737037603 | MET | c.*576C= (n.*576C=) c.3025C= (p.Pro1009=) c.2971C= (p.Pro991=) c.283+278C= (n.283+278C=) c.1681C= (p.Pro561=) c.3028C= (p.Pro1010=) n.3102C= | |
| 7 | g.116771932C>G | CA368987266 | MET | c.*576C>G (n.*576C>G) c.3025C>G (p.Pro1009Ala) c.2971C>G (p.Pro991Ala) c.283+278C>G (n.283+278C>G) c.1681C>G (p.Pro561Ala) c.3028C>G (p.Pro1010Ala) n.3102C>G | dbSNP |
| 7 | g.116771932C>T | CA4448619 | MET | c.*576C>T (n.*576C>T) c.3025C>T (p.Pro1009Ser) c.2971C>T (p.Pro991Ser) c.283+278C>T (n.283+278C>T) c.1681C>T (p.Pro561Ser) c.3028C>T (p.Pro1010Ser) n.3102C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.116771933C>A | CA368987270 | MET | c.*577C>A (n.*577C>A) c.3026C>A (p.Pro1009Gln) c.2972C>A (p.Pro991Gln) c.283+279C>A (n.283+279C>A) c.1682C>A (p.Pro561Gln) c.3029C>A (p.Pro1010Gln) n.3103C>A | |
| 7 | g.116771933C>G | CA368987271 | MET | c.*577C>G (n.*577C>G) c.3026C>G (p.Pro1009Arg) c.2972C>G (p.Pro991Arg) c.283+279C>G (n.283+279C>G) c.1682C>G (p.Pro561Arg) c.3029C>G (p.Pro1010Arg) n.3103C>G | |
| 7 | g.116771933C>T | CA368987272 | MET | c.*577C>T (n.*577C>T) c.3026C>T (p.Pro1009Leu) c.2972C>T (p.Pro991Leu) c.283+279C>T (n.283+279C>T) c.1682C>T (p.Pro561Leu) c.3029C>T (p.Pro1010Leu) n.3103C>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771934A>C | CA457447579 | MET | c.*578A>C (n.*578A>C) c.3027A>C (p.Pro1009=) c.2973A>C (p.Pro991=) c.283+280A>C (n.283+280A>C) c.1683A>C (p.Pro561=) c.3030A>C (p.Pro1010=) n.3104A>C | dbSNP |
| 7 | g.116771934A>G | CA457447580 | MET | c.*578A>G (n.*578A>G) c.3027A>G (p.Pro1009=) c.2973A>G (p.Pro991=) c.283+280A>G (n.283+280A>G) c.1683A>G (p.Pro561=) c.3030A>G (p.Pro1010=) n.3104A>G | |
| 7 | g.116771934A>T | CA457447581 | MET | c.*578A>T (n.*578A>T) c.3027A>T (p.Pro1009=) c.2973A>T (p.Pro991=) c.283+280A>T (n.283+280A>T) c.1683A>T (p.Pro561=) c.3030A>T (p.Pro1010=) n.3104A>T | dbSNP |
| 7 | g.116771935A= | CA1737037604 | MET | c.*579A= (n.*579A=) c.3028A= (p.Thr1010=) c.2974A= (p.Thr992=) c.283+281A= (n.283+281A=) c.1684A= (p.Thr562=) c.3031A= (p.Thr1011=) n.3105A= | |
| 7 | g.116771935A>C | CA368987273 | MET | c.*579A>C (n.*579A>C) c.3028A>C (p.Thr1010Pro) c.2974A>C (p.Thr992Pro) c.283+281A>C (n.283+281A>C) c.1684A>C (p.Thr562Pro) c.3031A>C (p.Thr1011Pro) n.3105A>C | dbSNP |
| 7 | g.116771935A>G | CA4448620 | MET | c.*579A>G (n.*579A>G) c.3028A>G (p.Thr1010Ala) c.2974A>G (p.Thr992Ala) c.283+281A>G (n.283+281A>G) c.1684A>G (p.Thr562Ala) c.3031A>G (p.Thr1011Ala) n.3105A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116771935A>T | CA368987276 | MET | c.*579A>T (n.*579A>T) c.3028A>T (p.Thr1010Ser) c.2974A>T (p.Thr992Ser) c.283+281A>T (n.283+281A>T) c.1684A>T (p.Thr562Ser) c.3031A>T (p.Thr1011Ser) n.3105A>T | ClinVar dbSNP gnomAD v4 |
| 7 | g.116771936C>A | CA368987277 | MET | c.*580C>A (n.*580C>A) c.3029C>A (p.Thr1010Asn) c.2975C>A (p.Thr992Asn) c.283+282C>A (n.283+282C>A) c.1685C>A (p.Thr562Asn) c.3032C>A (p.Thr1011Asn) n.3106C>A | dbSNP |
| 7 | g.116771936C= | CA1737037605 | MET | c.*580C= (n.*580C=) c.3029C= (p.Thr1010=) c.2975C= (p.Thr992=) c.283+282C= (n.283+282C=) c.1685C= (p.Thr562=) c.3032C= (p.Thr1011=) n.3106C= | |
| 7 | g.116771936C>G | CA368987278 | MET | c.*580C>G (n.*580C>G) c.3029C>G (p.Thr1010Ser) c.2975C>G (p.Thr992Ser) c.283+282C>G (n.283+282C>G) c.1685C>G (p.Thr562Ser) c.3032C>G (p.Thr1011Ser) n.3106C>G | dbSNP |
| 7 | g.116771936C>T | CA160417 | MET | c.*580C>T (n.*580C>T) c.3029C>T (p.Thr1010Ile) c.2975C>T (p.Thr992Ile) c.283+282C>T (n.283+282C>T) c.1685C>T (p.Thr562Ile) c.3032C>T (p.Thr1011Ile) n.3106C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.116771937T>A | CA457447582 | MET | c.*581T>A (n.*581T>A) c.3030T>A (p.Thr1010=) c.2976T>A (p.Thr992=) c.283+283T>A (n.283+283T>A) c.1686T>A (p.Thr562=) c.3033T>A (p.Thr1011=) n.3107T>A | dbSNP |
| 7 | g.116771937T>C | CA457447583 | MET | c.*581T>C (n.*581T>C) c.3030T>C (p.Thr1010=) c.2976T>C (p.Thr992=) c.283+283T>C (n.283+283T>C) c.1686T>C (p.Thr562=) c.3033T>C (p.Thr1011=) n.3107T>C | dbSNP |
| 7 | g.116771937T>G | CA457447584 | MET | c.*581T>G (n.*581T>G) c.3030T>G (p.Thr1010=) c.2976T>G (p.Thr992=) c.283+283T>G (n.283+283T>G) c.1686T>G (p.Thr562=) c.3033T>G (p.Thr1011=) n.3107T>G | |
| 7 | g.116771938A= | CA1737037606 | MET | c.*582A= (n.*582A=) c.3031A= (p.Thr1011=) c.2977A= (p.Thr993=) c.283+284A= (n.283+284A=) c.1687A= (p.Thr563=) c.3034A= (p.Thr1012=) n.3108A= | |
| 7 | g.116771938A>C | CA368987280 | MET | c.*582A>C (n.*582A>C) c.3031A>C (p.Thr1011Pro) c.2977A>C (p.Thr993Pro) c.283+284A>C (n.283+284A>C) c.1687A>C (p.Thr563Pro) c.3034A>C (p.Thr1012Pro) n.3108A>C | dbSNP |
| 7 | g.116771938A>G | CA160410 | MET | c.*582A>G (n.*582A>G) c.3031A>G (p.Thr1011Ala) c.2977A>G (p.Thr993Ala) c.283+284A>G (n.283+284A>G) c.1687A>G (p.Thr563Ala) c.3034A>G (p.Thr1012Ala) n.3108A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.116771938A>T | CA368987283 | MET | c.*582A>T (n.*582A>T) c.3031A>T (p.Thr1011Ser) c.2977A>T (p.Thr993Ser) c.283+284A>T (n.283+284A>T) c.1687A>T (p.Thr563Ser) c.3034A>T (p.Thr1012Ser) n.3108A>T | dbSNP |
| 7 | g.116771939C>A | CA368987285 | MET | c.*583C>A (n.*583C>A) c.3032C>A (p.Thr1011Lys) c.2978C>A (p.Thr993Lys) c.283+285C>A (n.283+285C>A) c.1688C>A (p.Thr563Lys) c.3035C>A (p.Thr1012Lys) n.3109C>A | dbSNP |
| 7 | g.116771939C>G | CA368987288 | MET | c.*583C>G (n.*583C>G) c.3032C>G (p.Thr1011Arg) c.2978C>G (p.Thr993Arg) c.283+285C>G (n.283+285C>G) c.1688C>G (p.Thr563Arg) c.3035C>G (p.Thr1012Arg) n.3109C>G | |
| 7 | g.116771939C>T | CA368987286 | MET | c.*583C>T (n.*583C>T) c.3032C>T (p.Thr1011Ile) c.2978C>T (p.Thr993Ile) c.283+285C>T (n.283+285C>T) c.1688C>T (p.Thr563Ile) c.3035C>T (p.Thr1012Ile) n.3109C>T | |
| 7 | g.116771940A>C | CA457447585 | MET | c.*584A>C (n.*584A>C) c.3033A>C (p.Thr1011=) c.2979A>C (p.Thr993=) c.283+286A>C (n.283+286A>C) c.1689A>C (p.Thr563=) c.3036A>C (p.Thr1012=) n.3110A>C | |
| 7 | g.116771940A>G | CA457447586 | MET | c.*584A>G (n.*584A>G) c.3033A>G (p.Thr1011=) c.2979A>G (p.Thr993=) c.283+286A>G (n.283+286A>G) c.1689A>G (p.Thr563=) c.3036A>G (p.Thr1012=) n.3110A>G | ClinVar dbSNP |
| 7 | g.116771940A>T | CA457447587 | MET | c.*584A>T (n.*584A>T) c.3033A>T (p.Thr1011=) c.2979A>T (p.Thr993=) c.283+286A>T (n.283+286A>T) c.1689A>T (p.Thr563=) c.3036A>T (p.Thr1012=) n.3110A>T | dbSNP |
| 7 | g.116771941G>A | CA368987289 | MET | c.*585G>A (n.*585G>A) c.3034G>A (p.Glu1012Lys) c.2980G>A (p.Glu994Lys) c.283+287G>A (n.283+287G>A) c.1690G>A (p.Glu564Lys) c.3037G>A (p.Glu1013Lys) n.3111G>A | dbSNP |
| 7 | g.116771941G>C | CA368987291 | MET | c.*585G>C (n.*585G>C) c.3034G>C (p.Glu1012Gln) c.2980G>C (p.Glu994Gln) c.283+287G>C (n.283+287G>C) c.1690G>C (p.Glu564Gln) c.3037G>C (p.Glu1013Gln) n.3111G>C | dbSNP |
| 7 | g.116771941G>T | CA368987290 | MET | c.*585G>T (n.*585G>T) c.3034G>T (p.Glu1012Ter) c.2980G>T (p.Glu994Ter) c.283+287G>T (n.283+287G>T) c.1690G>T (p.Glu564Ter) c.3037G>T (p.Glu1013Ter) n.3111G>T | gnomAD v4 |
| 7 | g.116771942A>C | CA368987292 | MET | c.*586A>C (n.*586A>C) c.3035A>C (p.Glu1012Ala) c.2981A>C (p.Glu994Ala) c.283+288A>C (n.283+288A>C) c.1691A>C (p.Glu564Ala) c.3038A>C (p.Glu1013Ala) n.3112A>C | |
| 7 | g.116771942A>G | CA368987293 | MET | c.*586A>G (n.*586A>G) c.3035A>G (p.Glu1012Gly) c.2981A>G (p.Glu994Gly) c.283+288A>G (n.283+288A>G) c.1691A>G (p.Glu564Gly) c.3038A>G (p.Glu1013Gly) n.3112A>G | ClinVar |
| 7 | g.116771942A>T | CA368987294 | MET | c.*586A>T (n.*586A>T) c.3035A>T (p.Glu1012Val) c.2981A>T (p.Glu994Val) c.283+288A>T (n.283+288A>T) c.1691A>T (p.Glu564Val) c.3038A>T (p.Glu1013Val) n.3112A>T | dbSNP |
| 7 | g.116771943A>C | CA368987295 | MET | c.*587A>C (n.*587A>C) c.3036A>C (p.Glu1012Asp) c.2982A>C (p.Glu994Asp) c.283+289A>C (n.283+289A>C) c.1692A>C (p.Glu564Asp) c.3039A>C (p.Glu1013Asp) n.3113A>C | |
| 7 | g.116771943A>G | CA457447588 | MET | c.*587A>G (n.*587A>G) c.3036A>G (p.Glu1012=) c.2982A>G (p.Glu994=) c.283+289A>G (n.283+289A>G) c.1692A>G (p.Glu564=) c.3039A>G (p.Glu1013=) n.3113A>G | |
| 7 | g.116771943A>T | CA368987297 | MET | c.*587A>T (n.*587A>T) c.3036A>T (p.Glu1012Asp) c.2982A>T (p.Glu994Asp) c.283+289A>T (n.283+289A>T) c.1692A>T (p.Glu564Asp) c.3039A>T (p.Glu1013Asp) n.3113A>T | dbSNP |
| 7 | g.116771944A= | CA1737037607 | MET | c.*588A= (n.*588A=) c.3037A= (p.Met1013=) c.2983A= (p.Met995=) c.283+290A= (n.283+290A=) c.1693A= (p.Met565=) c.3040A= (p.Met1014=) n.3114A= | |
| 7 | g.116771944A>C | CA368987299 | MET | c.*588A>C (n.*588A>C) c.3037A>C (p.Met1013Leu) c.2983A>C (p.Met995Leu) c.283+290A>C (n.283+290A>C) c.1693A>C (p.Met565Leu) c.3040A>C (p.Met1014Leu) n.3114A>C | dbSNP |
| 7 | g.116771944A>G | CA368987301 | MET | c.*588A>G (n.*588A>G) c.3037A>G (p.Met1013Val) c.2983A>G (p.Met995Val) c.283+290A>G (n.283+290A>G) c.1693A>G (p.Met565Val) c.3040A>G (p.Met1014Val) n.3114A>G | ClinVar dbSNP |
| 7 | g.116771944A>T | CA368987303 | MET | c.*588A>T (n.*588A>T) c.3037A>T (p.Met1013Leu) c.2983A>T (p.Met995Leu) c.283+290A>T (n.283+290A>T) c.1693A>T (p.Met565Leu) c.3040A>T (p.Met1014Leu) n.3114A>T | dbSNP |
| 7 | g.116771945T>A | CA368987306 | MET | c.*589T>A (n.*589T>A) c.3038T>A (p.Met1013Lys) c.2984T>A (p.Met995Lys) c.283+291T>A (n.283+291T>A) c.1694T>A (p.Met565Lys) c.3041T>A (p.Met1014Lys) n.3115T>A | |
| 7 | g.116771945T>C | CA368987308 | MET | c.*589T>C (n.*589T>C) c.3038T>C (p.Met1013Thr) c.2984T>C (p.Met995Thr) c.283+291T>C (n.283+291T>C) c.1694T>C (p.Met565Thr) c.3041T>C (p.Met1014Thr) n.3115T>C | |
| 7 | g.116771945T>G | CA368987310 | MET | c.*589T>G (n.*589T>G) c.3038T>G (p.Met1013Arg) c.2984T>G (p.Met995Arg) c.283+291T>G (n.283+291T>G) c.1694T>G (p.Met565Arg) c.3041T>G (p.Met1014Arg) n.3115T>G | |
| 7 | g.116771946G>A | CA368987318 | MET | c.*590G>A (n.*590G>A) c.3039G>A (p.Met1013Ile) c.2985G>A (p.Met995Ile) c.283+292G>A (n.283+292G>A) c.1695G>A (p.Met565Ile) c.3042G>A (p.Met1014Ile) n.3116G>A | ClinVar dbSNP |
| 7 | g.116771946G>C | CA368987316 | MET | c.*590G>C (n.*590G>C) c.3039G>C (p.Met1013Ile) c.2985G>C (p.Met995Ile) c.283+292G>C (n.283+292G>C) c.1695G>C (p.Met565Ile) c.3042G>C (p.Met1014Ile) n.3116G>C | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.116771946G= | CA1737037608 | MET | c.*590G= (n.*590G=) c.3039G= (p.Met1013=) c.2985G= (p.Met995=) c.283+292G= (n.283+292G=) c.1695G= (p.Met565=) c.3042G= (p.Met1014=) n.3116G= | |
| 7 | g.116771946G>T | CA368987313 | MET | c.*590G>T (n.*590G>T) c.3039G>T (p.Met1013Ile) c.2985G>T (p.Met995Ile) c.283+292G>T (n.283+292G>T) c.1695G>T (p.Met565Ile) c.3042G>T (p.Met1014Ile) n.3116G>T | dbSNP COSMIC |
| 7 | g.116771947G>A | CA4448621 | MET | c.*591G>A (n.*591G>A) c.3040G>A (p.Val1014Ile) c.2986G>A (p.Val996Ile) c.283+293G>A (n.283+293G>A) c.1696G>A (p.Val566Ile) c.3043G>A (p.Val1015Ile) n.3117G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.116771947G>C | CA368987321 | MET | c.*591G>C (n.*591G>C) c.3040G>C (p.Val1014Leu) c.2986G>C (p.Val996Leu) c.283+293G>C (n.283+293G>C) c.1696G>C (p.Val566Leu) c.3043G>C (p.Val1015Leu) n.3117G>C | dbSNP |
| 7 | g.116771947G= | CA1737037609 | MET | c.*591G= (n.*591G=) c.3040G= (p.Val1014=) c.2986G= (p.Val996=) c.283+293G= (n.283+293G=) c.1696G= (p.Val566=) c.3043G= (p.Val1015=) n.3117G= | |
| 7 | g.116771947G>T | CA368987322 | MET | c.*591G>T (n.*591G>T) c.3040G>T (p.Val1014Phe) c.2986G>T (p.Val996Phe) c.283+293G>T (n.283+293G>T) c.1696G>T (p.Val566Phe) c.3043G>T (p.Val1015Phe) n.3117G>T | dbSNP |