Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
6 | g.7582934_7587655del | CA2695202641 | |||
6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
6 | g.7584314T>A | CA362692121 | DSP | c.5723T>A (p.Phe1908Tyr) c.7052T>A (p.Phe2351Tyr) c.5255T>A (p.Phe1752Tyr) | dbSNP |
6 | g.7584314T>C | CA362692122 | DSP | c.5723T>C (p.Phe1908Ser) c.7052T>C (p.Phe2351Ser) c.5255T>C (p.Phe1752Ser) | |
6 | g.7584314T>G | CA362692123 | DSP | c.5723T>G (p.Phe1908Cys) c.7052T>G (p.Phe2351Cys) c.5255T>G (p.Phe1752Cys) | |
6 | g.7584314T= | CA1608610882 | DSP | c.5723T= (p.Phe1908=) c.7052T= (p.Phe2351=) c.5255T= (p.Phe1752=) | |
6 | g.7584315C>A | CA362692124 | DSP | c.5724C>A (p.Phe1908Leu) c.7053C>A (p.Phe2351Leu) c.5256C>A (p.Phe1752Leu) | |
6 | g.7584315C>G | CA362692125 | DSP | c.5724C>G (p.Phe1908Leu) c.7053C>G (p.Phe2351Leu) c.5256C>G (p.Phe1752Leu) | |
6 | g.7584315C>T | CA448716174 | DSP | c.5724C>T (p.Phe1908=) c.7053C>T (p.Phe2351=) c.5256C>T (p.Phe1752=) | |
6 | g.7584316C>A | CA362692128 | DSP | c.5725C>A (p.Gln1909Lys) c.7054C>A (p.Gln2352Lys) c.5257C>A (p.Gln1753Lys) | |
6 | g.7584316C>G | CA362692127 | DSP | c.5725C>G (p.Gln1909Glu) c.7054C>G (p.Gln2352Glu) c.5257C>G (p.Gln1753Glu) | |
6 | g.7584316C>T | CA362692126 | DSP | c.5725C>T (p.Gln1909Ter) c.7054C>T (p.Gln2352Ter) c.5257C>T (p.Gln1753Ter) | ClinVar gnomAD v4 |
6 | g.7584317A>C | CA362692129 | DSP | c.5726A>C (p.Gln1909Pro) c.7055A>C (p.Gln2352Pro) c.5258A>C (p.Gln1753Pro) | |
6 | g.7584317A>G | CA362692130 | DSP | c.5726A>G (p.Gln1909Arg) c.7055A>G (p.Gln2352Arg) c.5258A>G (p.Gln1753Arg) | |
6 | g.7584317A>T | CA362692131 | DSP | c.5726A>T (p.Gln1909Leu) c.7055A>T (p.Gln2352Leu) c.5258A>T (p.Gln1753Leu) | |
6 | g.7584318A>C | CA362692132 | DSP | c.5727A>C (p.Gln1909His) c.7056A>C (p.Gln2352His) c.5259A>C (p.Gln1753His) | |
6 | g.7584318A>G | CA448716179 | DSP | c.5727A>G (p.Gln1909=) c.7056A>G (p.Gln2352=) c.5259A>G (p.Gln1753=) | |
6 | g.7584318A>T | CA362692133 | DSP | c.5727A>T (p.Gln1909His) c.7056A>T (p.Gln2352His) c.5259A>T (p.Gln1753His) | |
6 | g.7584319G>A | CA362692134 | DSP | c.5728G>A (p.Ala1910Thr) c.7057G>A (p.Ala2353Thr) c.5260G>A (p.Ala1754Thr) | |
6 | g.7584319G>C | CA362692135 | DSP | c.5728G>C (p.Ala1910Pro) c.7057G>C (p.Ala2353Pro) c.5260G>C (p.Ala1754Pro) | |
6 | g.7584319G>T | CA362692136 | DSP | c.5728G>T (p.Ala1910Ser) c.7057G>T (p.Ala2353Ser) c.5260G>T (p.Ala1754Ser) | |
6 | g.7584320C>A | CA362692137 | DSP | c.5729C>A (p.Ala1910Asp) c.7058C>A (p.Ala2353Asp) c.5261C>A (p.Ala1754Asp) | |
6 | g.7584320C>G | CA362692138 | DSP | c.5729C>G (p.Ala1910Gly) c.7058C>G (p.Ala2353Gly) c.5261C>G (p.Ala1754Gly) | |
6 | g.7584320C>T | CA362692139 | DSP | c.5729C>T (p.Ala1910Val) c.7058C>T (p.Ala2353Val) c.5261C>T (p.Ala1754Val) | |
6 | g.7584321C>A | CA448716185 | DSP | c.5730C>A (p.Ala1910=) c.7059C>A (p.Ala2353=) c.5262C>A (p.Ala1754=) | |
6 | g.7584321C>G | CA448716190 | DSP | c.5730C>G (p.Ala1910=) c.7059C>G (p.Ala2353=) c.5262C>G (p.Ala1754=) | gnomAD v4 |
6 | g.7584321C>T | CA448716187 | DSP | c.5730C>T (p.Ala1910=) c.7059C>T (p.Ala2353=) c.5262C>T (p.Ala1754=) | |
6 | g.7584322A= | CA1608610892 | DSP | c.5731A= (p.Met1911=) c.7060A= (p.Met2354=) c.5263A= (p.Met1755=) | |
6 | g.7584322A>C | CA362692140 | DSP | c.5731A>C (p.Met1911Leu) c.7060A>C (p.Met2354Leu) c.5263A>C (p.Met1755Leu) | |
6 | g.7584322A>G | CA362692141 | DSP | c.5731A>G (p.Met1911Val) c.7060A>G (p.Met2354Val) c.5263A>G (p.Met1755Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7584322A>T | CA362692142 | DSP | c.5731A>T (p.Met1911Leu) c.7060A>T (p.Met2354Leu) c.5263A>T (p.Met1755Leu) | gnomAD v4 |
6 | g.7584323T>A | CA362692145 | DSP | c.5732T>A (p.Met1911Lys) c.7061T>A (p.Met2354Lys) c.5264T>A (p.Met1755Lys) | |
6 | g.7584323T>C | CA362692144 | DSP | c.5732T>C (p.Met1911Thr) c.7061T>C (p.Met2354Thr) c.5264T>C (p.Met1755Thr) | |
6 | g.7584323T>G | CA362692143 | DSP | c.5732T>G (p.Met1911Arg) c.7061T>G (p.Met2354Arg) c.5264T>G (p.Met1755Arg) | |
6 | g.7584324G>A | CA362692146 | DSP | c.5733G>A (p.Met1911Ile) c.7062G>A (p.Met2354Ile) c.5265G>A (p.Met1755Ile) | |
6 | g.7584324G>C | CA362692147 | DSP | c.5733G>C (p.Met1911Ile) c.7062G>C (p.Met2354Ile) c.5265G>C (p.Met1755Ile) | |
6 | g.7584324G>T | CA362692148 | DSP | c.5733G>T (p.Met1911Ile) c.7062G>T (p.Met2354Ile) c.5265G>T (p.Met1755Ile) | |
6 | g.7584325A>C | CA362692149 | DSP | c.5734A>C (p.Asn1912His) c.7063A>C (p.Asn2355His) c.5266A>C (p.Asn1756His) | |
6 | g.7584325A>G | CA362692150 | DSP | c.5734A>G (p.Asn1912Asp) c.7063A>G (p.Asn2355Asp) c.5266A>G (p.Asn1756Asp) | |
6 | g.7584325A>T | CA362692151 | DSP | c.5734A>T (p.Asn1912Tyr) c.7063A>T (p.Asn2355Tyr) c.5266A>T (p.Asn1756Tyr) | |
6 | g.7584326A>C | CA362692154 | DSP | c.5735A>C (p.Asn1912Thr) c.7064A>C (p.Asn2355Thr) c.5267A>C (p.Asn1756Thr) | |
6 | g.7584326A>G | CA362692152 | DSP | c.5735A>G (p.Asn1912Ser) c.7064A>G (p.Asn2355Ser) c.5267A>G (p.Asn1756Ser) | |
6 | g.7584326A>T | CA362692153 | DSP | c.5735A>T (p.Asn1912Ile) c.7064A>T (p.Asn2355Ile) c.5267A>T (p.Asn1756Ile) | |
6 | g.7584327T>A | CA362692155 | DSP | c.5736T>A (p.Asn1912Lys) c.7065T>A (p.Asn2355Lys) c.5268T>A (p.Asn1756Lys) | |
6 | g.7584327T>C | CA448716199 | DSP | c.5736T>C (p.Asn1912=) c.7065T>C (p.Asn2355=) c.5268T>C (p.Asn1756=) | |
6 | g.7584327T>G | CA362692156 | DSP | c.5736T>G (p.Asn1912Lys) c.7065T>G (p.Asn2355Lys) c.5268T>G (p.Asn1756Lys) | |
6 | g.7584328A= | CA1608610897 | DSP | c.5737A= (p.Lys1913=) c.7066A= (p.Lys2356=) c.5269A= (p.Lys1757=) | |
6 | g.7584328A>C | CA362692157 | DSP | c.5737A>C (p.Lys1913Gln) c.7066A>C (p.Lys2356Gln) c.5269A>C (p.Lys1757Gln) | |
6 | g.7584328A>G | CA362692158 | DSP | c.5737A>G (p.Lys1913Glu) c.7066A>G (p.Lys2356Glu) c.5269A>G (p.Lys1757Glu) | |
6 | g.7584328A>T | CA362692159 | DSP | c.5737A>T (p.Lys1913Ter) c.7066A>T (p.Lys2356Ter) c.5269A>T (p.Lys1757Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7584329A= | CA1608610903 | DSP | c.5738A= (p.Lys1913=) c.7067A= (p.Lys2356=) c.5270A= (p.Lys1757=) | |
6 | g.7584329A>C | CA049050 | DSP | c.5738A>C (p.Lys1913Thr) c.7067A>C (p.Lys2356Thr) c.5270A>C (p.Lys1757Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7584329A>G | CA362692161 | DSP | c.5738A>G (p.Lys1913Arg) c.7067A>G (p.Lys2356Arg) c.5270A>G (p.Lys1757Arg) | |
6 | g.7584329A>T | CA362692160 | DSP | c.5738A>T (p.Lys1913Met) c.7067A>T (p.Lys2356Met) c.5270A>T (p.Lys1757Met) | |
6 | g.7584330G>A | CA049064 | DSP | c.5739G>A (p.Lys1913=) c.7068G>A (p.Lys2356=) c.5271G>A (p.Lys1757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584330G>C | CA362692162 | DSP | c.5739G>C (p.Lys1913Asn) c.7068G>C (p.Lys2356Asn) c.5271G>C (p.Lys1757Asn) | |
6 | g.7584330G= | CA1608610912 | DSP | c.5739G= (p.Lys1913=) c.7068G= (p.Lys2356=) c.5271G= (p.Lys1757=) | |
6 | g.7584330G>T | CA362692163 | DSP | c.5739G>T (p.Lys1913Asn) c.7068G>T (p.Lys2356Asn) c.5271G>T (p.Lys1757Asn) | |
6 | g.7584331G>A | CA362692164 | DSP | c.5740G>A (p.Glu1914Lys) c.7069G>A (p.Glu2357Lys) c.5272G>A (p.Glu1758Lys) | gnomAD v4 |
6 | g.7584331G>C | CA362692165 | DSP | c.5740G>C (p.Glu1914Gln) c.7069G>C (p.Glu2357Gln) c.5272G>C (p.Glu1758Gln) | ClinVar gnomAD v4 |
6 | g.7584331G>T | CA362692166 | DSP | c.5740G>T (p.Glu1914Ter) c.7069G>T (p.Glu2357Ter) c.5272G>T (p.Glu1758Ter) | |
6 | g.7584332A>C | CA362692167 | DSP | c.5741A>C (p.Glu1914Ala) c.7070A>C (p.Glu2357Ala) c.5273A>C (p.Glu1758Ala) | |
6 | g.7584332A>G | CA362692168 | DSP | c.5741A>G (p.Glu1914Gly) c.7070A>G (p.Glu2357Gly) c.5273A>G (p.Glu1758Gly) | |
6 | g.7584332A>T | CA362692169 | DSP | c.5741A>T (p.Glu1914Val) c.7070A>T (p.Glu2357Val) c.5273A>T (p.Glu1758Val) | |
6 | g.7584333A>C | CA362692170 | DSP | c.5742A>C (p.Glu1914Asp) c.7071A>C (p.Glu2357Asp) c.5274A>C (p.Glu1758Asp) | gnomAD v4 |
6 | g.7584333A>G | CA448716215 | DSP | c.5742A>G (p.Glu1914=) c.7071A>G (p.Glu2357=) c.5274A>G (p.Glu1758=) | |
6 | g.7584333A>T | CA362692171 | DSP | c.5742A>T (p.Glu1914Asp) c.7071A>T (p.Glu2357Asp) c.5274A>T (p.Glu1758Asp) | COSMIC |
6 | g.7584334C>A | CA362692174 | DSP | c.5743C>A (p.Leu1915Ile) c.7072C>A (p.Leu2358Ile) c.5275C>A (p.Leu1759Ile) | |
6 | g.7584334C>G | CA362692172 | DSP | c.5743C>G (p.Leu1915Val) c.7072C>G (p.Leu2358Val) c.5275C>G (p.Leu1759Val) | |
6 | g.7584334C>T | CA362692173 | DSP | c.5743C>T (p.Leu1915Phe) c.7072C>T (p.Leu2358Phe) c.5275C>T (p.Leu1759Phe) | |
6 | g.7584335T>A | CA362692175 | DSP | c.5744T>A (p.Leu1915His) c.7073T>A (p.Leu2358His) c.5276T>A (p.Leu1759His) | |
6 | g.7584335T>C | CA362692176 | DSP | c.5744T>C (p.Leu1915Pro) c.7073T>C (p.Leu2358Pro) c.5276T>C (p.Leu1759Pro) | |
6 | g.7584335T>G | CA362692177 | DSP | c.5744T>G (p.Leu1915Arg) c.7073T>G (p.Leu2358Arg) c.5276T>G (p.Leu1759Arg) | |
6 | g.7584336C>A | CA448716225 | DSP | c.5745C>A (p.Leu1915=) c.7074C>A (p.Leu2358=) c.5277C>A (p.Leu1759=) | |
6 | g.7584336C= | CA1608610923 | DSP | c.5745C= (p.Leu1915=) c.7074C= (p.Leu2358=) c.5277C= (p.Leu1759=) | |
6 | g.7584336C>G | CA448716231 | DSP | c.5745C>G (p.Leu1915=) c.7074C>G (p.Leu2358=) c.5277C>G (p.Leu1759=) | |
6 | g.7584336C>T | CA049076 | DSP | c.5745C>T (p.Leu1915=) c.7074C>T (p.Leu2358=) c.5277C>T (p.Leu1759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584336_7584337delinsCA | CA1608610919 | DSP | c.5745_5746delinsCA (p.Leu1915=) c.7074_7075delinsCA (p.Leu2358=) c.5277_5278delinsCA (p.Leu1759=) | |
6 | g.7584337del | CA891843182 | DSP | c.5746del (p.Ile1916SerfsTer10) c.7075del (p.Ile2359SerfsTer10) c.5278del (p.Ile1760SerfsTer10) | ClinVar dbSNP |
6 | g.7584337A= | CA1608610938 | DSP | c.5746A= (p.Ile1916=) c.7075A= (p.Ile2359=) c.5278A= (p.Ile1760=) | |
6 | g.7584337A>C | CA362692178 | DSP | c.5746A>C (p.Ile1916Leu) c.7075A>C (p.Ile2359Leu) c.5278A>C (p.Ile1760Leu) | gnomAD v4 |
6 | g.7584337A>G | CA049089 | DSP | c.5746A>G (p.Ile1916Val) c.7075A>G (p.Ile2359Val) c.5278A>G (p.Ile1760Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584337A>T | CA362692179 | DSP | c.5746A>T (p.Ile1916Phe) c.7075A>T (p.Ile2359Phe) c.5278A>T (p.Ile1760Phe) | |
6 | g.7584338T>A | CA362692180 | DSP | c.5747T>A (p.Ile1916Asn) c.7076T>A (p.Ile2359Asn) c.5279T>A (p.Ile1760Asn) | gnomAD v4 |
6 | g.7584338T>C | CA362692181 | DSP | c.5747T>C (p.Ile1916Thr) c.7076T>C (p.Ile2359Thr) c.5279T>C (p.Ile1760Thr) | ClinVar |
6 | g.7584338T>G | CA362692182 | DSP | c.5747T>G (p.Ile1916Ser) c.7076T>G (p.Ile2359Ser) c.5279T>G (p.Ile1760Ser) | gnomAD v4 |
6 | g.7584339del | CA2677219268 | DSP | c.5748del (p.Ile1916MetfsTer10) c.7077del (p.Ile2359MetfsTer10) c.5280del (p.Ile1760MetfsTer10) | gnomAD v4 |
6 | g.7584339C>A | CA448716235 | DSP | c.5748C>A (p.Ile1916=) c.7077C>A (p.Ile2359=) c.5280C>A (p.Ile1760=) | ClinVar |
6 | g.7584339C= | CA1608610954 | DSP | c.5748C= (p.Ile1916=) c.7077C= (p.Ile2359=) c.5280C= (p.Ile1760=) | |
6 | g.7584339C>G | CA362692183 | DSP | c.5748C>G (p.Ile1916Met) c.7077C>G (p.Ile2359Met) c.5280C>G (p.Ile1760Met) | |
6 | g.7584339C>T | CA16605089 | DSP | c.5748C>T (p.Ile1916=) c.7077C>T (p.Ile2359=) c.5280C>T (p.Ile1760=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584340G>A | CA362692184 | DSP | c.5749G>A (p.Glu1917Lys) c.7078G>A (p.Glu2360Lys) c.5281G>A (p.Glu1761Lys) | ClinVar gnomAD v4 COSMIC |
6 | g.7584340G>C | CA362692185 | DSP | c.5749G>C (p.Glu1917Gln) c.7078G>C (p.Glu2360Gln) c.5281G>C (p.Glu1761Gln) | |
6 | g.7584340G>T | CA362692186 | DSP | c.5749G>T (p.Glu1917Ter) c.7078G>T (p.Glu2360Ter) c.5281G>T (p.Glu1761Ter) | |
6 | g.7584341A= | CA1608610960 | DSP | c.5750A= (p.Glu1917=) c.7079A= (p.Glu2360=) c.5282A= (p.Glu1761=) | |
6 | g.7584341A>C | CA362692189 | DSP | c.5750A>C (p.Glu1917Ala) c.7079A>C (p.Glu2360Ala) c.5282A>C (p.Glu1761Ala) | gnomAD v4 |
6 | g.7584341A>G | CA362692188 | DSP | c.5750A>G (p.Glu1917Gly) c.7079A>G (p.Glu2360Gly) c.5282A>G (p.Glu1761Gly) | |
6 | g.7584341A>T | CA362692187 | DSP | c.5750A>T (p.Glu1917Val) c.7079A>T (p.Glu2360Val) c.5282A>T (p.Glu1761Val) | |
6 | g.7584344dup | CA2499218565 | DSP | c.5753dup (p.His1920ProfsTer17) c.7082dup (p.His2363ProfsTer17) c.5285dup (p.His1764ProfsTer17) | ClinVar dbSNP |
6 | g.7584341_7584342insC | CA133975659 | DSP | c.5750_5751insC (p.Glu1917AspfsTer20) c.7079_7080insC (p.Glu2360AspfsTer20) c.5282_5283insC (p.Glu1761AspfsTer20) | dbSNP |
6 | g.7584342A>C | CA362692190 | DSP | c.5751A>C (p.Glu1917Asp) c.7080A>C (p.Glu2360Asp) c.5283A>C (p.Glu1761Asp) | |
6 | g.7584342A>G | CA448716243 | DSP | c.5751A>G (p.Glu1917=) c.7080A>G (p.Glu2360=) c.5283A>G (p.Glu1761=) | gnomAD v4 |
6 | g.7584342A>T | CA362692191 | DSP | c.5751A>T (p.Glu1917Asp) c.7080A>T (p.Glu2360Asp) c.5283A>T (p.Glu1761Asp) | |
6 | g.7584343A>C | CA362692192 | DSP | c.5752A>C (p.Lys1918Gln) c.7081A>C (p.Lys2361Gln) c.5284A>C (p.Lys1762Gln) | |
6 | g.7584343A>G | CA362692193 | DSP | c.5752A>G (p.Lys1918Glu) c.7081A>G (p.Lys2361Glu) c.5284A>G (p.Lys1762Glu) | |
6 | g.7584343A>T | CA362692194 | DSP | c.5752A>T (p.Lys1918Ter) c.7081A>T (p.Lys2361Ter) c.5284A>T (p.Lys1762Ter) | |
6 | g.7584344A>C | CA362692195 | DSP | c.5753A>C (p.Lys1918Thr) c.7082A>C (p.Lys2361Thr) c.5285A>C (p.Lys1762Thr) | |
6 | g.7584344A>G | CA362692196 | DSP | c.5753A>G (p.Lys1918Arg) c.7082A>G (p.Lys2361Arg) c.5285A>G (p.Lys1762Arg) | |
6 | g.7584344A>T | CA362692197 | DSP | c.5753A>T (p.Lys1918Met) c.7082A>T (p.Lys2361Met) c.5285A>T (p.Lys1762Met) | |
6 | g.7584345G>A | CA448716252 | DSP | c.5754G>A (p.Lys1918=) c.7083G>A (p.Lys2361=) c.5286G>A (p.Lys1762=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584345G>C | CA362692198 | DSP | c.5754G>C (p.Lys1918Asn) c.7083G>C (p.Lys2361Asn) c.5286G>C (p.Lys1762Asn) | |
6 | g.7584345G= | CA1608610966 | DSP | c.5754G= (p.Lys1918=) c.7083G= (p.Lys2361=) c.5286G= (p.Lys1762=) | |
6 | g.7584345G>T | CA362692199 | DSP | c.5754G>T (p.Lys1918Asn) c.7083G>T (p.Lys2361Asn) c.5286G>T (p.Lys1762Asn) | |
6 | g.7584346G>A | CA362692200 | DSP | c.5755G>A (p.Gly1919Ser) c.7084G>A (p.Gly2362Ser) c.5287G>A (p.Gly1763Ser) | ClinVar gnomAD v4 |
6 | g.7584346G>C | CA362692201 | DSP | c.5755G>C (p.Gly1919Arg) c.7084G>C (p.Gly2362Arg) c.5287G>C (p.Gly1763Arg) | |
6 | g.7584346G>T | CA362692202 | DSP | c.5755G>T (p.Gly1919Cys) c.7084G>T (p.Gly2362Cys) c.5287G>T (p.Gly1763Cys) | |
6 | g.7584347G>A | CA362692205 | DSP | c.5756G>A (p.Gly1919Asp) c.7085G>A (p.Gly2362Asp) c.5288G>A (p.Gly1763Asp) | gnomAD v4 |
6 | g.7584347G>C | CA362692204 | DSP | c.5756G>C (p.Gly1919Ala) c.7085G>C (p.Gly2362Ala) c.5288G>C (p.Gly1763Ala) | |
6 | g.7584347G>T | CA362692203 | DSP | c.5756G>T (p.Gly1919Val) c.7085G>T (p.Gly2362Val) c.5288G>T (p.Gly1763Val) | |
6 | g.7584348C>A | CA448716261 | DSP | c.5757C>A (p.Gly1919=) c.7086C>A (p.Gly2362=) c.5289C>A (p.Gly1763=) | |
6 | g.7584348C>G | CA448716263 | DSP | c.5757C>G (p.Gly1919=) c.7086C>G (p.Gly2362=) c.5289C>G (p.Gly1763=) | |
6 | g.7584348C>T | CA448716262 | DSP | c.5757C>T (p.Gly1919=) c.7086C>T (p.Gly2362=) c.5289C>T (p.Gly1763=) | |
6 | g.7584349C>A | CA362692206 | DSP | c.5758C>A (p.His1920Asn) c.7087C>A (p.His2363Asn) c.5290C>A (p.His1764Asn) | COSMIC |
6 | g.7584349C>G | CA362692207 | DSP | c.5758C>G (p.His1920Asp) c.7087C>G (p.His2363Asp) c.5290C>G (p.His1764Asp) | |
6 | g.7584349C>T | CA362692208 | DSP | c.5758C>T (p.His1920Tyr) c.7087C>T (p.His2363Tyr) c.5290C>T (p.His1764Tyr) | |
6 | g.7584350A>C | CA362692209 | DSP | c.5759A>C (p.His1920Pro) c.7088A>C (p.His2363Pro) c.5291A>C (p.His1764Pro) | |
6 | g.7584350A>G | CA362692210 | DSP | c.5759A>G (p.His1920Arg) c.7088A>G (p.His2363Arg) c.5291A>G (p.His1764Arg) | |
6 | g.7584350A>T | CA362692211 | DSP | c.5759A>T (p.His1920Leu) c.7088A>T (p.His2363Leu) c.5291A>T (p.His1764Leu) | |
6 | g.7584351C>A | CA362692213 | DSP | c.5760C>A (p.His1920Gln) c.7089C>A (p.His2363Gln) c.5292C>A (p.His1764Gln) | |
6 | g.7584351C= | CA1608610976 | DSP | c.5760C= (p.His1920=) c.7089C= (p.His2363=) c.5292C= (p.His1764=) | |
6 | g.7584351C>G | CA362692212 | DSP | c.5760C>G (p.His1920Gln) c.7089C>G (p.His2363Gln) c.5292C>G (p.His1764Gln) | |
6 | g.7584351C>T | CA133975665 | DSP | c.5760C>T (p.His1920=) c.7089C>T (p.His2363=) c.5292C>T (p.His1764=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.7584352G>A | CA362692214 | DSP | c.5761G>A (p.Gly1921Ser) c.7090G>A (p.Gly2364Ser) c.5293G>A (p.Gly1765Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.7584352G>C | CA362692215 | DSP | c.5761G>C (p.Gly1921Arg) c.7090G>C (p.Gly2364Arg) c.5293G>C (p.Gly1765Arg) | |
6 | g.7584352G= | CA1608610984 | DSP | c.5761G= (p.Gly1921=) c.7090G= (p.Gly2364=) c.5293G= (p.Gly1765=) | |
6 | g.7584352G>T | CA362692216 | DSP | c.5761G>T (p.Gly1921Cys) c.7090G>T (p.Gly2364Cys) c.5293G>T (p.Gly1765Cys) | |
6 | g.7584353G>A | CA362692217 | DSP | c.5762G>A (p.Gly1921Asp) c.7091G>A (p.Gly2364Asp) c.5294G>A (p.Gly1765Asp) | |
6 | g.7584353G>C | CA362692218 | DSP | c.5762G>C (p.Gly1921Ala) c.7091G>C (p.Gly2364Ala) c.5294G>C (p.Gly1765Ala) | |
6 | g.7584353G= | CA1608610987 | DSP | c.5762G= (p.Gly1921=) c.7091G= (p.Gly2364=) c.5294G= (p.Gly1765=) | |
6 | g.7584353G>T | CA362692219 | DSP | c.5762G>T (p.Gly1921Val) c.7091G>T (p.Gly2364Val) c.5294G>T (p.Gly1765Val) | dbSNP gnomAD v4 |
6 | g.7584354T>A | CA448716264 | DSP | c.5763T>A (p.Gly1921=) c.7092T>A (p.Gly2364=) c.5295T>A (p.Gly1765=) | |
6 | g.7584354T>C | CA448716266 | DSP | c.5763T>C (p.Gly1921=) c.7092T>C (p.Gly2364=) c.5295T>C (p.Gly1765=) | |
6 | g.7584354T>G | CA448716269 | DSP | c.5763T>G (p.Gly1921=) c.7092T>G (p.Gly2364=) c.5295T>G (p.Gly1765=) | |
6 | g.7584358_7584365del | CA2695205961 | DSP | c.5767_5774del (p.Leu1924SerfsTer10) c.7096_7103del (p.Leu2367SerfsTer10) c.5299_5306del (p.Leu1768SerfsTer10) | |
6 | g.7584355A= | CA1608610998 | DSP | c.5764A= (p.Ile1922=) c.7093A= (p.Ile2365=) c.5296A= (p.Ile1766=) | |
6 | g.7584355A>C | CA362692221 | DSP | c.5764A>C (p.Ile1922Leu) c.7093A>C (p.Ile2365Leu) c.5296A>C (p.Ile1766Leu) | |
6 | g.7584355A>G | CA049101 | DSP | c.5764A>G (p.Ile1922Val) c.7093A>G (p.Ile2365Val) c.5296A>G (p.Ile1766Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584355A>T | CA362692220 | DSP | c.5764A>T (p.Ile1922Phe) c.7093A>T (p.Ile2365Phe) c.5296A>T (p.Ile1766Phe) | |
6 | g.7584356T>A | CA362692222 | DSP | c.5765T>A (p.Ile1922Asn) c.7094T>A (p.Ile2365Asn) c.5297T>A (p.Ile1766Asn) | |
6 | g.7584356T>C | CA362692223 | DSP | c.5765T>C (p.Ile1922Thr) c.7094T>C (p.Ile2365Thr) c.5297T>C (p.Ile1766Thr) | |
6 | g.7584356T>G | CA362692224 | DSP | c.5765T>G (p.Ile1922Ser) c.7094T>G (p.Ile2365Ser) c.5297T>G (p.Ile1766Ser) | |
6 | g.7584357T>A | CA448716280 | DSP | c.5766T>A (p.Ile1922=) c.7095T>A (p.Ile2365=) c.5298T>A (p.Ile1766=) | |
6 | g.7584357T>C | CA448716282 | DSP | c.5766T>C (p.Ile1922=) c.7095T>C (p.Ile2365=) c.5298T>C (p.Ile1766=) | |
6 | g.7584357T>G | CA362692225 | DSP | c.5766T>G (p.Ile1922Met) c.7095T>G (p.Ile2365Met) c.5298T>G (p.Ile1766Met) | |
6 | g.7584358C>A | CA362692226 | DSP | c.5767C>A (p.Arg1923Ser) c.7096C>A (p.Arg2366Ser) c.5299C>A (p.Arg1767Ser) | gnomAD v4 |
6 | g.7584358C= | CA1608610999 | DSP | c.5767C= (p.Arg1923=) c.7096C= (p.Arg2366=) c.5299C= (p.Arg1767=) | |
6 | g.7584358C>G | CA362692227 | DSP | c.5767C>G (p.Arg1923Gly) c.7096C>G (p.Arg2366Gly) c.5299C>G (p.Arg1767Gly) | |
6 | g.7584358C>T | CA007112 | DSP | c.5767C>T (p.Arg1923Cys) c.7096C>T (p.Arg2366Cys) c.5299C>T (p.Arg1767Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7584359G>A | CA007120 | DSP | c.5768G>A (p.Arg1923His) c.7097G>A (p.Arg2366His) c.5300G>A (p.Arg1767His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7584359G>C | CA362692228 | DSP | c.5768G>C (p.Arg1923Pro) c.7097G>C (p.Arg2366Pro) c.5300G>C (p.Arg1767Pro) | |
6 | g.7584359G= | CA1608611006 | DSP | c.5768G= (p.Arg1923=) c.7097G= (p.Arg2366=) c.5300G= (p.Arg1767=) | |
6 | g.7584359G>T | CA362692229 | DSP | c.5768G>T (p.Arg1923Leu) c.7097G>T (p.Arg2366Leu) c.5300G>T (p.Arg1767Leu) | |
6 | g.7584360C>A | CA448716298 | DSP | c.5769C>A (p.Arg1923=) c.7098C>A (p.Arg2366=) c.5301C>A (p.Arg1767=) | |
6 | g.7584360C>G | CA448716301 | DSP | c.5769C>G (p.Arg1923=) c.7098C>G (p.Arg2366=) c.5301C>G (p.Arg1767=) | |
6 | g.7584360C>T | CA448716302 | DSP | c.5769C>T (p.Arg1923=) c.7098C>T (p.Arg2366=) c.5301C>T (p.Arg1767=) | gnomAD v4 COSMIC |
6 | g.7584361T>A | CA362692230 | DSP | c.5770T>A (p.Leu1924Ile) c.7099T>A (p.Leu2367Ile) c.5302T>A (p.Leu1768Ile) | |
6 | g.7584361T>C | CA448716303 | DSP | c.5770T>C (p.Leu1924=) c.7099T>C (p.Leu2367=) c.5302T>C (p.Leu1768=) | gnomAD v4 |
6 | g.7584361T>G | CA362692231 | DSP | c.5770T>G (p.Leu1924Val) c.7099T>G (p.Leu2367Val) c.5302T>G (p.Leu1768Val) | |
6 | g.7584362T>A | CA362692232 | DSP | c.5771T>A (p.Leu1924Ter) c.7100T>A (p.Leu2367Ter) c.5303T>A (p.Leu1768Ter) | |
6 | g.7584362T>C | CA362692234 | DSP | c.5771T>C (p.Leu1924Ser) c.7100T>C (p.Leu2367Ser) c.5303T>C (p.Leu1768Ser) | |
6 | g.7584362T>G | CA362692233 | DSP | c.5771T>G (p.Leu1924Ter) c.7100T>G (p.Leu2367Ter) c.5303T>G (p.Leu1768Ter) | |
6 | g.7584362_7584368delinsTATTAGA | CA1608611014 | DSP | c.5771_5777delinsTATTAGA (p.Leu1924=) c.7100_7106delinsTATTAGA (p.Leu2367=) c.5303_5309delinsTATTAGA (p.Leu1768=) | |
6 | g.7584363A>C | CA362692235 | DSP | c.5772A>C (p.Leu1924Phe) c.7101A>C (p.Leu2367Phe) c.5304A>C (p.Leu1768Phe) | |
6 | g.7584363A>G | CA448716312 | DSP | c.5772A>G (p.Leu1924=) c.7101A>G (p.Leu2367=) c.5304A>G (p.Leu1768=) | |
6 | g.7584363A>T | CA362692236 | DSP | c.5772A>T (p.Leu1924Phe) c.7101A>T (p.Leu2367Phe) c.5304A>T (p.Leu1768Phe) | |
6 | g.7584364_7584369del | CA1608611018 | DSP | c.5773_5778del (p.Leu1925_Glu1926del) c.7102_7107del (p.Leu2368_Glu2369del) c.5305_5310del (p.Leu1769_Glu1770del) | dbSNP |
6 | g.7584364T>A | CA362692237 | DSP | c.5773T>A (p.Leu1925Ile) c.7102T>A (p.Leu2368Ile) c.5305T>A (p.Leu1769Ile) | |
6 | g.7584364T>C | CA448716316 | DSP | c.5773T>C (p.Leu1925=) c.7102T>C (p.Leu2368=) c.5305T>C (p.Leu1769=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7584364T>G | CA362692238 | DSP | c.5773T>G (p.Leu1925Val) c.7102T>G (p.Leu2368Val) c.5305T>G (p.Leu1769Val) | |
6 | g.7584364T= | CA1608611022 | DSP | c.5773T= (p.Leu1925=) c.7102T= (p.Leu2368=) c.5305T= (p.Leu1769=) | |
6 | g.7584365T>A | CA362692239 | DSP | c.5774T>A (p.Leu1925Ter) c.7103T>A (p.Leu2368Ter) c.5306T>A (p.Leu1769Ter) | |
6 | g.7584365T>C | CA362692240 | DSP | c.5774T>C (p.Leu1925Ser) c.7103T>C (p.Leu2368Ser) c.5306T>C (p.Leu1769Ser) | COSMIC |
6 | g.7584365T>G | CA362692241 | DSP | c.5774T>G (p.Leu1925Ter) c.7103T>G (p.Leu2368Ter) c.5306T>G (p.Leu1769Ter) | |
6 | g.7584366A>C | CA362692242 | DSP | c.5775A>C (p.Leu1925Phe) c.7104A>C (p.Leu2368Phe) c.5307A>C (p.Leu1769Phe) | |
6 | g.7584366A>G | CA448716323 | DSP | c.5775A>G (p.Leu1925=) c.7104A>G (p.Leu2368=) c.5307A>G (p.Leu1769=) | |
6 | g.7584366A>T | CA362692243 | DSP | c.5775A>T (p.Leu1925Phe) c.7104A>T (p.Leu2368Phe) c.5307A>T (p.Leu1769Phe) | |
6 | g.7584367G>A | CA362692244 | DSP | c.5776G>A (p.Glu1926Lys) c.7105G>A (p.Glu2369Lys) c.5308G>A (p.Glu1770Lys) | ClinVar COSMIC |
6 | g.7584367G>C | CA362692245 | DSP | c.5776G>C (p.Glu1926Gln) c.7105G>C (p.Glu2369Gln) c.5308G>C (p.Glu1770Gln) | |
6 | g.7584367G>T | CA362692246 | DSP | c.5776G>T (p.Glu1926Ter) c.7105G>T (p.Glu2369Ter) c.5308G>T (p.Glu1770Ter) | |
6 | g.7584368A>C | CA362692247 | DSP | c.5777A>C (p.Glu1926Ala) c.7106A>C (p.Glu2369Ala) c.5309A>C (p.Glu1770Ala) | |
6 | g.7584368A>G | CA362692248 | DSP | c.5777A>G (p.Glu1926Gly) c.7106A>G (p.Glu2369Gly) c.5309A>G (p.Glu1770Gly) | gnomAD v4 |
6 | g.7584368A>T | CA362692249 | DSP | c.5777A>T (p.Glu1926Val) c.7106A>T (p.Glu2369Val) c.5309A>T (p.Glu1770Val) | |
6 | g.7584369A>C | CA362692250 | DSP | c.5778A>C (p.Glu1926Asp) c.7107A>C (p.Glu2369Asp) c.5310A>C (p.Glu1770Asp) | |
6 | g.7584369A>G | CA448716337 | DSP | c.5778A>G (p.Glu1926=) c.7107A>G (p.Glu2369=) c.5310A>G (p.Glu1770=) | |
6 | g.7584369A>T | CA362692251 | DSP | c.5778A>T (p.Glu1926Asp) c.7107A>T (p.Glu2369Asp) c.5310A>T (p.Glu1770Asp) | |
6 | g.7584370G>A | CA362692252 | DSP | c.5779G>A (p.Ala1927Thr) c.7108G>A (p.Ala2370Thr) c.5311G>A (p.Ala1771Thr) | |
6 | g.7584370G>C | CA362692253 | DSP | c.5779G>C (p.Ala1927Pro) c.7108G>C (p.Ala2370Pro) c.5311G>C (p.Ala1771Pro) | |
6 | g.7584370G>T | CA362692254 | DSP | c.5779G>T (p.Ala1927Ser) c.7108G>T (p.Ala2370Ser) c.5311G>T (p.Ala1771Ser) | |
6 | g.7584371C>A | CA362692255 | DSP | c.5780C>A (p.Ala1927Glu) c.7109C>A (p.Ala2370Glu) c.5312C>A (p.Ala1771Glu) | |
6 | g.7584371C>G | CA362692256 | DSP | c.5780C>G (p.Ala1927Gly) c.7109C>G (p.Ala2370Gly) c.5312C>G (p.Ala1771Gly) | |
6 | g.7584371C>T | CA362692257 | DSP | c.5780C>T (p.Ala1927Val) c.7109C>T (p.Ala2370Val) c.5312C>T (p.Ala1771Val) | |
6 | g.7584372A>C | CA448716350 | DSP | c.5781A>C (p.Ala1927=) c.7110A>C (p.Ala2370=) c.5313A>C (p.Ala1771=) | |
6 | g.7584372A>G | CA448716351 | DSP | c.5781A>G (p.Ala1927=) c.7110A>G (p.Ala2370=) c.5313A>G (p.Ala1771=) | |
6 | g.7584372A>T | CA448716354 | DSP | c.5781A>T (p.Ala1927=) c.7110A>T (p.Ala2370=) c.5313A>T (p.Ala1771=) | |
6 | g.7584373C>A | CA362692258 | DSP | c.5782C>A (p.Gln1928Lys) c.7111C>A (p.Gln2371Lys) c.5314C>A (p.Gln1772Lys) | |
6 | g.7584373C>G | CA362692259 | DSP | c.5782C>G (p.Gln1928Glu) c.7111C>G (p.Gln2371Glu) c.5314C>G (p.Gln1772Glu) | |
6 | g.7584373C>T | CA362692260 | DSP | c.5782C>T (p.Gln1928Ter) c.7111C>T (p.Gln2371Ter) c.5314C>T (p.Gln1772Ter) | |
6 | g.7584375_7584381del | CA923726089 | DSP | c.5784_5790del (p.Ile1929ProfsTer17) c.7113_7119del (p.Ile2372ProfsTer17) c.5316_5322del (p.Ile1773ProfsTer17) | gnomAD v4 |
6 | g.7584374A>C | CA362692261 | DSP | c.5783A>C (p.Gln1928Pro) c.7112A>C (p.Gln2371Pro) c.5315A>C (p.Gln1772Pro) | |
6 | g.7584374A>G | CA362692262 | DSP | c.5783A>G (p.Gln1928Arg) c.7112A>G (p.Gln2371Arg) c.5315A>G (p.Gln1772Arg) | |
6 | g.7584374A>T | CA362692263 | DSP | c.5783A>T (p.Gln1928Leu) c.7112A>T (p.Gln2371Leu) c.5315A>T (p.Gln1772Leu) | |
6 | g.7584375G>A | CA448716370 | DSP | c.5784G>A (p.Gln1928=) c.7113G>A (p.Gln2371=) c.5316G>A (p.Gln1772=) | |
6 | g.7584375G>C | CA362692265 | DSP | c.5784G>C (p.Gln1928His) c.7113G>C (p.Gln2371His) c.5316G>C (p.Gln1772His) | |
6 | g.7584375G>T | CA362692264 | DSP | c.5784G>T (p.Gln1928His) c.7113G>T (p.Gln2371His) c.5316G>T (p.Gln1772His) | |
6 | g.7584376A>C | CA362692266 | DSP | c.5785A>C (p.Ile1929Leu) c.7114A>C (p.Ile2372Leu) c.5317A>C (p.Ile1773Leu) | |
6 | g.7584376A>G | CA362692268 | DSP | c.5785A>G (p.Ile1929Val) c.7114A>G (p.Ile2372Val) c.5317A>G (p.Ile1773Val) | gnomAD v4 |
6 | g.7584376A>T | CA362692267 | DSP | c.5785A>T (p.Ile1929Phe) c.7114A>T (p.Ile2372Phe) c.5317A>T (p.Ile1773Phe) | |
6 | g.7584377T>A | CA362692269 | DSP | c.5786T>A (p.Ile1929Asn) c.7115T>A (p.Ile2372Asn) c.5318T>A (p.Ile1773Asn) | |
6 | g.7584377T>C | CA362692270 | DSP | c.5786T>C (p.Ile1929Thr) c.7115T>C (p.Ile2372Thr) c.5318T>C (p.Ile1773Thr) | gnomAD v4 |
6 | g.7584377T>G | CA362692271 | DSP | c.5786T>G (p.Ile1929Ser) c.7115T>G (p.Ile2372Ser) c.5318T>G (p.Ile1773Ser) | |
6 | g.7584378C>A | CA448716373 | DSP | c.5787C>A (p.Ile1929=) c.7116C>A (p.Ile2372=) c.5319C>A (p.Ile1773=) | |
6 | g.7584378C= | CA1608611026 | DSP | c.5787C= (p.Ile1929=) c.7116C= (p.Ile2372=) c.5319C= (p.Ile1773=) | |
6 | g.7584378C>G | CA362692272 | DSP | c.5787C>G (p.Ile1929Met) c.7116C>G (p.Ile2372Met) c.5319C>G (p.Ile1773Met) | gnomAD v4 |
6 | g.7584378C>T | CA049118 | DSP | c.5787C>T (p.Ile1929=) c.7116C>T (p.Ile2372=) c.5319C>T (p.Ile1773=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.7584379G>A | CA049132 | DSP | c.5788G>A (p.Ala1930Thr) c.7117G>A (p.Ala2373Thr) c.5320G>A (p.Ala1774Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584379G>C | CA362692273 | DSP | c.5788G>C (p.Ala1930Pro) c.7117G>C (p.Ala2373Pro) c.5320G>C (p.Ala1774Pro) | |
6 | g.7584379G= | CA1608611034 | DSP | c.5788G= (p.Ala1930=) c.7117G= (p.Ala2373=) c.5320G= (p.Ala1774=) | |
6 | g.7584379G>T | CA362692274 | DSP | c.5788G>T (p.Ala1930Ser) c.7117G>T (p.Ala2373Ser) c.5320G>T (p.Ala1774Ser) | |
6 | g.7584380C>A | CA362692275 | DSP | c.5789C>A (p.Ala1930Glu) c.7118C>A (p.Ala2373Glu) c.5321C>A (p.Ala1774Glu) | |
6 | g.7584380C>G | CA362692276 | DSP | c.5789C>G (p.Ala1930Gly) c.7118C>G (p.Ala2373Gly) c.5321C>G (p.Ala1774Gly) | |
6 | g.7584380C>T | CA362692277 | DSP | c.5789C>T (p.Ala1930Val) c.7118C>T (p.Ala2373Val) c.5321C>T (p.Ala1774Val) | |
6 | g.7584381A>C | CA448716380 | DSP | c.5790A>C (p.Ala1930=) c.7119A>C (p.Ala2373=) c.5322A>C (p.Ala1774=) | ClinVar |
6 | g.7584381A>G | CA448716382 | DSP | c.5790A>G (p.Ala1930=) c.7119A>G (p.Ala2373=) c.5322A>G (p.Ala1774=) | |
6 | g.7584381A>T | CA448716381 | DSP | c.5790A>T (p.Ala1930=) c.7119A>T (p.Ala2373=) c.5322A>T (p.Ala1774=) | |
6 | g.7584382A= | CA1608611040 | DSP | c.5791A= (p.Thr1931=) c.7120A= (p.Thr2374=) c.5323A= (p.Thr1775=) | |
6 | g.7584382A>C | CA362692280 | DSP | c.5791A>C (p.Thr1931Pro) c.7120A>C (p.Thr2374Pro) c.5323A>C (p.Thr1775Pro) | |
6 | g.7584382A>G | CA362692279 | DSP | c.5791A>G (p.Thr1931Ala) c.7120A>G (p.Thr2374Ala) c.5323A>G (p.Thr1775Ala) | ClinVar dbSNP |
6 | g.7584382A>T | CA362692278 | DSP | c.5791A>T (p.Thr1931Ser) c.7120A>T (p.Thr2374Ser) c.5323A>T (p.Thr1775Ser) | dbSNP |
6 | g.7584383C>A | CA362692281 | DSP | c.5792C>A (p.Thr1931Asn) c.7121C>A (p.Thr2374Asn) c.5324C>A (p.Thr1775Asn) | |
6 | g.7584383C>G | CA362692282 | DSP | c.5792C>G (p.Thr1931Ser) c.7121C>G (p.Thr2374Ser) c.5324C>G (p.Thr1775Ser) | |
6 | g.7584383C>T | CA362692283 | DSP | c.5792C>T (p.Thr1931Ile) c.7121C>T (p.Thr2374Ile) c.5324C>T (p.Thr1775Ile) | |
6 | g.7584383_7584384delinsTT | CA2580075352 | DSP | c.5792_5793delinsTT (p.Thr1931Ile) c.7121_7122delinsTT (p.Thr2374Ile) c.5324_5325delinsTT (p.Thr1775Ile) | ClinVar |
6 | g.7584384del | CA645552061 | DSP | c.5793del (p.Ile1934SerfsTer14) c.7122del (p.Ile2377SerfsTer14) c.5325del (p.Ile1778SerfsTer14) | COSMIC |
6 | g.7584383_7584384insT | CA2832542908 | DSP | c.5792_5793insT (p.Gly1932ArgfsTer5) c.7121_7122insT (p.Gly2375ArgfsTer5) c.5324_5325insT (p.Gly1776ArgfsTer5) | |
6 | g.7584384C>A | CA448716386 | DSP | c.5793C>A (p.Thr1931=) c.7122C>A (p.Thr2374=) c.5325C>A (p.Thr1775=) | |
6 | g.7584384C= | CA1608611047 | DSP | c.5793C= (p.Thr1931=) c.7122C= (p.Thr2374=) c.5325C= (p.Thr1775=) | |
6 | g.7584384C>G | CA448716388 | DSP | c.5793C>G (p.Thr1931=) c.7122C>G (p.Thr2374=) c.5325C>G (p.Thr1775=) | gnomAD v4 |
6 | g.7584384C>T | CA007128 | DSP | c.5793C>T (p.Thr1931=) c.7122C>T (p.Thr2374=) c.5325C>T (p.Thr1775=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584385G>A | CA133975688 | DSP | c.5794G>A (p.Gly1932Arg) c.7123G>A (p.Gly2375Arg) c.5326G>A (p.Gly1776Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.7584385G>C | CA004694 | DSP | c.5794G>C (p.Gly1932Arg) c.7123G>C (p.Gly2375Arg) c.5326G>C (p.Gly1776Arg) | ClinVar dbSNP gnomAD v4 |
6 | g.7584385G= | CA1608611061 | DSP | c.5794G= (p.Gly1932=) c.7123G= (p.Gly2375=) c.5326G= (p.Gly1776=) | |
6 | g.7584385G>T | CA362692284 | DSP | c.5794G>T (p.Gly1932Trp) c.7123G>T (p.Gly2375Trp) c.5326G>T (p.Gly1776Trp) | COSMIC |
6 | g.7584390dup | CA2769903888 | DSP | c.5799dup (p.Ile1934AspfsTer3) c.7128dup (p.Ile2377AspfsTer3) c.5331dup (p.Ile1778AspfsTer3) | |
6 | g.7584390del | CA645552062 | DSP | c.5799del (p.Ile1934SerfsTer14) c.7128del (p.Ile2377SerfsTer14) c.5331del (p.Ile1778SerfsTer14) | COSMIC |
6 | g.7584386G>A | CA362692285 | DSP | c.5795G>A (p.Gly1932Glu) c.7124G>A (p.Gly2375Glu) c.5327G>A (p.Gly1776Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7584386G>C | CA362692286 | DSP | c.5795G>C (p.Gly1932Ala) c.7124G>C (p.Gly2375Ala) c.5327G>C (p.Gly1776Ala) | |
6 | g.7584386G= | CA1608611072 | DSP | c.5795G= (p.Gly1932=) c.7124G= (p.Gly2375=) c.5327G= (p.Gly1776=) | |
6 | g.7584386G>T | CA362692287 | DSP | c.5795G>T (p.Gly1932Val) c.7124G>T (p.Gly2375Val) c.5327G>T (p.Gly1776Val) | |
6 | g.7584387G>A | CA007142 | DSP | c.5796G>A (p.Gly1932=) c.7125G>A (p.Gly2375=) c.5328G>A (p.Gly1776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584387G>C | CA049161 | DSP | c.5796G>C (p.Gly1932=) c.7125G>C (p.Gly2375=) c.5328G>C (p.Gly1776=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7584387G= | CA1608611082 | DSP | c.5796G= (p.Gly1932=) c.7125G= (p.Gly2375=) c.5328G= (p.Gly1776=) | |
6 | g.7584387G>T | CA448716403 | DSP | c.5796G>T (p.Gly1932=) c.7125G>T (p.Gly2375=) c.5328G>T (p.Gly1776=) | |
6 | g.7584388G>A | CA362692288 | DSP | c.5797G>A (p.Gly1933Arg) c.7126G>A (p.Gly2376Arg) c.5329G>A (p.Gly1777Arg) | |
6 | g.7584388G>C | CA362692290 | DSP | c.5797G>C (p.Gly1933Arg) c.7126G>C (p.Gly2376Arg) c.5329G>C (p.Gly1777Arg) | |
6 | g.7584388G>T | CA362692289 | DSP | c.5797G>T (p.Gly1933Trp) c.7126G>T (p.Gly2376Trp) c.5329G>T (p.Gly1777Trp) | |
6 | g.7584389G>A | CA362692291 | DSP | c.5798G>A (p.Gly1933Glu) c.7127G>A (p.Gly2376Glu) c.5330G>A (p.Gly1777Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7584389G>C | CA362692293 | DSP | c.5798G>C (p.Gly1933Ala) c.7127G>C (p.Gly2376Ala) c.5330G>C (p.Gly1777Ala) | |
6 | g.7584389G= | CA1608611091 | DSP | c.5798G= (p.Gly1933=) c.7127G= (p.Gly2376=) c.5330G= (p.Gly1777=) | |
6 | g.7584389G>T | CA362692292 | DSP | c.5798G>T (p.Gly1933Val) c.7127G>T (p.Gly2376Val) c.5330G>T (p.Gly1777Val) | |
6 | g.7584390G>A | CA049171 | DSP | c.5799G>A (p.Gly1933=) c.7128G>A (p.Gly2376=) c.5331G>A (p.Gly1777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.7584390G>C | CA049185 | DSP | c.5799G>C (p.Gly1933=) c.7128G>C (p.Gly2376=) c.5331G>C (p.Gly1777=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7584390G= | CA1608611100 | DSP | c.5799G= (p.Gly1933=) c.7128G= (p.Gly2376=) c.5331G= (p.Gly1777=) | |
6 | g.7584390G>T | CA049202 | DSP | c.5799G>T (p.Gly1933=) c.7128G>T (p.Gly2376=) c.5331G>T (p.Gly1777=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7584391A>C | CA362692294 | DSP | c.5800A>C (p.Ile1934Leu) c.7129A>C (p.Ile2377Leu) c.5332A>C (p.Ile1778Leu) | |
6 | g.7584391A>G | CA362692295 | DSP | c.5800A>G (p.Ile1934Val) c.7129A>G (p.Ile2377Val) c.5332A>G (p.Ile1778Val) | |
6 | g.7584391A>T | CA362692296 | DSP | c.5800A>T (p.Ile1934Phe) c.7129A>T (p.Ile2377Phe) c.5332A>T (p.Ile1778Phe) | |
6 | g.7584391dup | CA2695205962 | DSP | c.5800dup (p.Ile1934AsnfsTer3) c.7129dup (p.Ile2377AsnfsTer3) c.5332dup (p.Ile1778AsnfsTer3) | |
6 | g.7584391_7584414del | CA2573140820 | DSP | c.5800_5823del (p.Ile1934_His1941del) c.7129_7152del (p.Ile2377_His2384del) c.5332_5355del (p.Ile1778_His1785del) | ClinVar dbSNP |
6 | g.7584392T>A | CA362692297 | DSP | c.5801T>A (p.Ile1934Asn) c.7130T>A (p.Ile2377Asn) c.5333T>A (p.Ile1778Asn) | |
6 | g.7584392T>C | CA362692298 | DSP | c.5801T>C (p.Ile1934Thr) c.7130T>C (p.Ile2377Thr) c.5333T>C (p.Ile1778Thr) | |
6 | g.7584392T>G | CA362692299 | DSP | c.5801T>G (p.Ile1934Ser) c.7130T>G (p.Ile2377Ser) c.5333T>G (p.Ile1778Ser) | |
6 | g.7584393C>A | CA448716419 | DSP | c.5802C>A (p.Ile1934=) c.7131C>A (p.Ile2377=) c.5334C>A (p.Ile1778=) | ClinVar dbSNP |
6 | g.7584393C= | CA1608611105 | DSP | c.5802C= (p.Ile1934=) c.7131C= (p.Ile2377=) c.5334C= (p.Ile1778=) | |
6 | g.7584393C>G | CA362692300 | DSP | c.5802C>G (p.Ile1934Met) c.7131C>G (p.Ile2377Met) c.5334C>G (p.Ile1778Met) | |
6 | g.7584393C>T | CA448716423 | DSP | c.5802C>T (p.Ile1934=) c.7131C>T (p.Ile2377=) c.5334C>T (p.Ile1778=) | |
6 | g.7584394A>C | CA362692301 | DSP | c.5803A>C (p.Ile1935Leu) c.7132A>C (p.Ile2378Leu) c.5335A>C (p.Ile1779Leu) | |
6 | g.7584394A>G | CA362692302 | DSP | c.5803A>G (p.Ile1935Val) c.7132A>G (p.Ile2378Val) c.5335A>G (p.Ile1779Val) | |
6 | g.7584394A>T | CA362692303 | DSP | c.5803A>T (p.Ile1935Phe) c.7132A>T (p.Ile2378Phe) c.5335A>T (p.Ile1779Phe) | |
6 | g.7584395T>A | CA362692304 | DSP | c.5804T>A (p.Ile1935Asn) c.7133T>A (p.Ile2378Asn) c.5336T>A (p.Ile1779Asn) | |
6 | g.7584395T>C | CA362692305 | DSP | c.5804T>C (p.Ile1935Thr) c.7133T>C (p.Ile2378Thr) c.5336T>C (p.Ile1779Thr) | ClinVar gnomAD v4 |
6 | g.7584395T>G | CA362692306 | DSP | c.5804T>G (p.Ile1935Ser) c.7133T>G (p.Ile2378Ser) c.5336T>G (p.Ile1779Ser) | |
6 | g.7584396T>A | CA448716430 | DSP | c.5805T>A (p.Ile1935=) c.7134T>A (p.Ile2378=) c.5337T>A (p.Ile1779=) | |
6 | g.7584396T>C | CA448716432 | DSP | c.5805T>C (p.Ile1935=) c.7134T>C (p.Ile2378=) c.5337T>C (p.Ile1779=) | |
6 | g.7584396T>G | CA362692307 | DSP | c.5805T>G (p.Ile1935Met) c.7134T>G (p.Ile2378Met) c.5337T>G (p.Ile1779Met) | |
6 | g.7584397G>A | CA362692308 | DSP | c.5806G>A (p.Asp1936Asn) c.7135G>A (p.Asp2379Asn) c.5338G>A (p.Asp1780Asn) | |
6 | g.7584397G>C | CA362692309 | DSP | c.5806G>C (p.Asp1936His) c.7135G>C (p.Asp2379His) c.5338G>C (p.Asp1780His) | gnomAD v4 |
6 | g.7584397G>T | CA362692310 | DSP | c.5806G>T (p.Asp1936Tyr) c.7135G>T (p.Asp2379Tyr) c.5338G>T (p.Asp1780Tyr) | gnomAD v4 |
6 | g.7584398A>C | CA362692311 | DSP | c.5807A>C (p.Asp1936Ala) c.7136A>C (p.Asp2379Ala) c.5339A>C (p.Asp1780Ala) | |
6 | g.7584398A>G | CA362692312 | DSP | c.5807A>G (p.Asp1936Gly) c.7136A>G (p.Asp2379Gly) c.5339A>G (p.Asp1780Gly) | |
6 | g.7584398A>T | CA362692313 | DSP | c.5807A>T (p.Asp1936Val) c.7136A>T (p.Asp2379Val) c.5339A>T (p.Asp1780Val) | |
6 | g.7584399C>A | CA362692314 | DSP | c.5808C>A (p.Asp1936Glu) c.7137C>A (p.Asp2379Glu) c.5340C>A (p.Asp1780Glu) | |
6 | g.7584399C>G | CA362692315 | DSP | c.5808C>G (p.Asp1936Glu) c.7137C>G (p.Asp2379Glu) c.5340C>G (p.Asp1780Glu) | |
6 | g.7584399C>T | CA448716442 | DSP | c.5808C>T (p.Asp1936=) c.7137C>T (p.Asp2379=) c.5340C>T (p.Asp1780=) | gnomAD v4 |
6 | g.7584400C>A | CA362692316 | DSP | c.5809C>A (p.Pro1937Thr) c.7138C>A (p.Pro2380Thr) c.5341C>A (p.Pro1781Thr) | |
6 | g.7584400C>G | CA362692317 | DSP | c.5809C>G (p.Pro1937Ala) c.7138C>G (p.Pro2380Ala) c.5341C>G (p.Pro1781Ala) | |
6 | g.7584400C>T | CA362692318 | DSP | c.5809C>T (p.Pro1937Ser) c.7138C>T (p.Pro2380Ser) c.5341C>T (p.Pro1781Ser) | |
6 | g.7584401C>A | CA362692321 | DSP | c.5810C>A (p.Pro1937Gln) c.7139C>A (p.Pro2380Gln) c.5342C>A (p.Pro1781Gln) | |
6 | g.7584401C>G | CA362692320 | DSP | c.5810C>G (p.Pro1937Arg) c.7139C>G (p.Pro2380Arg) c.5342C>G (p.Pro1781Arg) | |
6 | g.7584401C>T | CA362692319 | DSP | c.5810C>T (p.Pro1937Leu) c.7139C>T (p.Pro2380Leu) c.5342C>T (p.Pro1781Leu) | |
6 | g.7584402A>C | CA448716451 | DSP | c.5811A>C (p.Pro1937=) c.7140A>C (p.Pro2380=) c.5343A>C (p.Pro1781=) | |
6 | g.7584402A>G | CA448716453 | DSP | c.5811A>G (p.Pro1937=) c.7140A>G (p.Pro2380=) c.5343A>G (p.Pro1781=) | |
6 | g.7584402A>T | CA448716454 | DSP | c.5811A>T (p.Pro1937=) c.7140A>T (p.Pro2380=) c.5343A>T (p.Pro1781=) | |
6 | g.7584403A>C | CA362692322 | DSP | c.5812A>C (p.Lys1938Gln) c.7141A>C (p.Lys2381Gln) c.5344A>C (p.Lys1782Gln) | |
6 | g.7584403A>G | CA362692323 | DSP | c.5812A>G (p.Lys1938Glu) c.7141A>G (p.Lys2381Glu) c.5344A>G (p.Lys1782Glu) | |
6 | g.7584403A>T | CA362692324 | DSP | c.5812A>T (p.Lys1938Ter) c.7141A>T (p.Lys2381Ter) c.5344A>T (p.Lys1782Ter) | |
6 | g.7584404A>C | CA362692325 | DSP | c.5813A>C (p.Lys1938Thr) c.7142A>C (p.Lys2381Thr) c.5345A>C (p.Lys1782Thr) | |
6 | g.7584404A>G | CA362692326 | DSP | c.5813A>G (p.Lys1938Arg) c.7142A>G (p.Lys2381Arg) c.5345A>G (p.Lys1782Arg) | gnomAD v4 |
6 | g.7584404A>T | CA362692327 | DSP | c.5813A>T (p.Lys1938Met) c.7142A>T (p.Lys2381Met) c.5345A>T (p.Lys1782Met) | |
6 | g.7584405G>A | CA448716474 | DSP | c.5814G>A (p.Lys1938=) c.7143G>A (p.Lys2381=) c.5346G>A (p.Lys1782=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7584405G>C | CA362692328 | DSP | c.5814G>C (p.Lys1938Asn) c.7143G>C (p.Lys2381Asn) c.5346G>C (p.Lys1782Asn) | dbSNP |
6 | g.7584405G= | CA1608611109 | DSP | c.5814G= (p.Lys1938=) c.7143G= (p.Lys2381=) c.5346G= (p.Lys1782=) | |
6 | g.7584405G>T | CA362692329 | DSP | c.5814G>T (p.Lys1938Asn) c.7143G>T (p.Lys2381Asn) c.5346G>T (p.Lys1782Asn) | |
6 | g.7584406G>A | CA362692330 | DSP | c.5815G>A (p.Glu1939Lys) c.7144G>A (p.Glu2382Lys) c.5347G>A (p.Glu1783Lys) | |
6 | g.7584406G>C | CA362692331 | DSP | c.5815G>C (p.Glu1939Gln) c.7144G>C (p.Glu2382Gln) c.5347G>C (p.Glu1783Gln) | |
6 | g.7584406G>T | CA362692332 | DSP | c.5815G>T (p.Glu1939Ter) c.7144G>T (p.Glu2382Ter) c.5347G>T (p.Glu1783Ter) | |
6 | g.7584407A>C | CA362692333 | DSP | c.5816A>C (p.Glu1939Ala) c.7145A>C (p.Glu2382Ala) c.5348A>C (p.Glu1783Ala) | |
6 | g.7584407A>G | CA362692334 | DSP | c.5816A>G (p.Glu1939Gly) c.7145A>G (p.Glu2382Gly) c.5348A>G (p.Glu1783Gly) | |
6 | g.7584407A>T | CA362692335 | DSP | c.5816A>T (p.Glu1939Val) c.7145A>T (p.Glu2382Val) c.5348A>T (p.Glu1783Val) | |
6 | g.7584407_7584423del | CA2677219518 | DSP | c.5816_5832del (p.Glu1939GlyfsTer2) c.7145_7161del (p.Glu2382GlyfsTer2) c.5348_5364del (p.Glu1783GlyfsTer2) | gnomAD v4 |
6 | g.7584408G>A | CA448716484 | DSP | c.5817G>A (p.Glu1939=) c.7146G>A (p.Glu2382=) c.5349G>A (p.Glu1783=) | |
6 | g.7584408G>C | CA362692336 | DSP | c.5817G>C (p.Glu1939Asp) c.7146G>C (p.Glu2382Asp) c.5349G>C (p.Glu1783Asp) | |
6 | g.7584408G>T | CA362692337 | DSP | c.5817G>T (p.Glu1939Asp) c.7146G>T (p.Glu2382Asp) c.5349G>T (p.Glu1783Asp) | |
6 | g.7584409A>C | CA362692338 | DSP | c.5818A>C (p.Ser1940Arg) c.7147A>C (p.Ser2383Arg) c.5350A>C (p.Ser1784Arg) | |
6 | g.7584409A>G | CA362692339 | DSP | c.5818A>G (p.Ser1940Gly) c.7147A>G (p.Ser2383Gly) c.5350A>G (p.Ser1784Gly) | gnomAD v4 |
6 | g.7584409A>T | CA362692340 | DSP | c.5818A>T (p.Ser1940Cys) c.7147A>T (p.Ser2383Cys) c.5350A>T (p.Ser1784Cys) | |
6 | g.7584410G>A | CA362692341 | DSP | c.5819G>A (p.Ser1940Asn) c.7148G>A (p.Ser2383Asn) c.5351G>A (p.Ser1784Asn) | ClinVar |
6 | g.7584410G>C | CA362692342 | DSP | c.5819G>C (p.Ser1940Thr) c.7148G>C (p.Ser2383Thr) c.5351G>C (p.Ser1784Thr) | |
6 | g.7584410G>T | CA362692343 | DSP | c.5819G>T (p.Ser1940Ile) c.7148G>T (p.Ser2383Ile) c.5351G>T (p.Ser1784Ile) | |
6 | g.7584411C>A | CA362692344 | DSP | c.5820C>A (p.Ser1940Arg) c.7149C>A (p.Ser2383Arg) c.5352C>A (p.Ser1784Arg) | dbSNP |
6 | g.7584411C>G | CA362692345 | DSP | c.5820C>G (p.Ser1940Arg) c.7149C>G (p.Ser2383Arg) c.5352C>G (p.Ser1784Arg) | |
6 | g.7584411C>T | CA448716497 | DSP | c.5820C>T (p.Ser1940=) c.7149C>T (p.Ser2383=) c.5352C>T (p.Ser1784=) | |
6 | g.7584412C>A | CA362692346 | DSP | c.5821C>A (p.His1941Asn) c.7150C>A (p.His2384Asn) c.5353C>A (p.His1785Asn) | gnomAD v4 |
6 | g.7584412C>G | CA362692347 | DSP | c.5821C>G (p.His1941Asp) c.7150C>G (p.His2384Asp) c.5353C>G (p.His1785Asp) | |
6 | g.7584412C>T | CA362692348 | DSP | c.5821C>T (p.His1941Tyr) c.7150C>T (p.His2384Tyr) c.5353C>T (p.His1785Tyr) | |
6 | g.7584413A>C | CA362692351 | DSP | c.5822A>C (p.His1941Pro) c.7151A>C (p.His2384Pro) c.5354A>C (p.His1785Pro) | |
6 | g.7584413A>G | CA362692350 | DSP | c.5822A>G (p.His1941Arg) c.7151A>G (p.His2384Arg) c.5354A>G (p.His1785Arg) | |
6 | g.7584413A>T | CA362692349 | DSP | c.5822A>T (p.His1941Leu) c.7151A>T (p.His2384Leu) c.5354A>T (p.His1785Leu) | |
6 | g.7584414T>A | CA362692352 | DSP | c.5823T>A (p.His1941Gln) c.7152T>A (p.His2384Gln) c.5355T>A (p.His1785Gln) | |
6 | g.7584414T>C | CA448716520 | DSP | c.5823T>C (p.His1941=) c.7152T>C (p.His2384=) c.5355T>C (p.His1785=) | |
6 | g.7584414T>G | CA362692353 | DSP | c.5823T>G (p.His1941Gln) c.7152T>G (p.His2384Gln) c.5355T>G (p.His1785Gln) |