| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43337883G>A | CA339972029 | MPL | c.35G>A (p.Cys12Tyr) n.35G>A | dbSNP gnomAD v4 |
| 1 | g.43337883G>C | CA339972031 | MPL | c.35G>C (p.Cys12Ser) n.35G>C | |
| 1 | g.43337883G>T | CA339972033 | MPL | c.35G>T (p.Cys12Phe) n.35G>T | |
| 1 | g.43337884C>A | CA339972038 | MPL | c.36C>A (p.Cys12Ter) n.36C>A | |
| 1 | g.43337884C>G | CA339972041 | MPL | c.36C>G (p.Cys12Trp) n.36C>G | |
| 1 | g.43337884C>T | CA417416458 | MPL | c.36C>T (p.Cys12=) n.36C>T | dbSNP gnomAD v4 |
| 1 | g.43337885C>A | CA339972045 | MPL | c.37C>A (p.Leu13Ile) n.37C>A | dbSNP |
| 1 | g.43337885C>G | CA339972046 | MPL | c.37C>G (p.Leu13Val) n.37C>G | |
| 1 | g.43337885C>T | CA339972048 | MPL | c.37C>T (p.Leu13Phe) n.37C>T | |
| 1 | g.43337886T>A | CA339972051 | MPL | c.38T>A (p.Leu13His) n.38T>A | |
| 1 | g.43337886T>C | CA339972052 | MPL | c.38T>C (p.Leu13Pro) n.38T>C | gnomAD v4 |
| 1 | g.43337886T>G | CA339972055 | MPL | c.38T>G (p.Leu13Arg) n.38T>G | |
| 1 | g.43337887C>A | CA417416463 | MPL | c.39C>A (p.Leu13=) n.39C>A | |
| 1 | g.43337887C>G | CA417416464 | MPL | c.39C>G (p.Leu13=) n.39C>G | |
| 1 | g.43337887C>T | CA417416465 | MPL | c.39C>T (p.Leu13=) n.39C>T | |
| 1 | g.43337888C>A | CA339972058 | MPL | c.40C>A (p.Leu14Ile) n.40C>A | |
| 1 | g.43337888C= | CA1165575795 | MPL | c.40C= (p.Leu14=) n.40C= | |
| 1 | g.43337888C>G | CA339972060 | MPL | c.40C>G (p.Leu14Val) n.40C>G | |
| 1 | g.43337888C>T | CA339972062 | MPL | c.40C>T (p.Leu14Phe) n.40C>T | dbSNP gnomAD v4 |
| 1 | g.43337889T>A | CA339972069 | MPL | c.41T>A (p.Leu14His) n.41T>A | |
| 1 | g.43337889T>C | CA339972067 | MPL | c.41T>C (p.Leu14Pro) n.41T>C | |
| 1 | g.43337889T>G | CA339972065 | MPL | c.41T>G (p.Leu14Arg) n.41T>G | |
| 1 | g.43337890C>A | CA417416468 | MPL | c.42C>A (p.Leu14=) n.42C>A | |
| 1 | g.43337890C>G | CA417416470 | MPL | c.42C>G (p.Leu14=) n.42C>G | |
| 1 | g.43337890C>T | CA417416472 | MPL | c.42C>T (p.Leu14=) n.42C>T | ClinVar dbSNP |
| 1 | g.43337891C>A | CA339972071 | MPL | c.43C>A (p.Leu15Met) n.43C>A | gnomAD v4 |
| 1 | g.43337891C>G | CA339972074 | MPL | c.43C>G (p.Leu15Val) n.43C>G | |
| 1 | g.43337891C>T | CA417416475 | MPL | c.43C>T (p.Leu15=) n.43C>T | |
| 1 | g.43337892T>A | CA339972077 | MPL | c.44T>A (p.Leu15Gln) n.44T>A | |
| 1 | g.43337892T>C | CA339972079 | MPL | c.44T>C (p.Leu15Pro) n.44T>C | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337892T>G | CA339972081 | MPL | c.44T>G (p.Leu15Arg) n.44T>G | |
| 1 | g.43337892T= | CA1165575796 | MPL | c.44T= (p.Leu15=) n.44T= | |
| 1 | g.43337893G>A | CA417416479 | MPL | c.45G>A (p.Leu15=) n.45G>A | |
| 1 | g.43337893G>C | CA417416480 | MPL | c.45G>C (p.Leu15=) n.45G>C | |
| 1 | g.43337893G>T | CA417416481 | MPL | c.45G>T (p.Leu15=) n.45G>T | gnomAD v4 |
| 1 | g.43337893_43337894insTATAAGAGACA | CA2580062773 | MPL | c.45_46insTATAAGAGACA (p.Ala16TyrfsTer27) c.45_46insTATAAGAGACA (p.Ala16TyrfsTer20) n.45_46insTATAAGAGACA c.45_46insTATAAGAGACA (p.Ala16TyrfsTer?) | ClinVar |
| 1 | g.43337894G>A | CA21606743 | MPL | c.46G>A (p.Ala16Thr) n.46G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43337894G>C | CA339972085 | MPL | c.46G>C (p.Ala16Pro) n.46G>C | dbSNP |
| 1 | g.43337894G= | CA1145282730 | MPL | c.46G= (p.Ala16=) n.46G= | |
| 1 | g.43337894G>T | CA339972087 | MPL | c.46G>T (p.Ala16Ser) n.46G>T | |
| 1 | g.43337895C>A | CA339972090 | MPL | c.47C>A (p.Ala16Asp) n.47C>A | |
| 1 | g.43337895C= | CA1165575797 | MPL | c.47C= (p.Ala16=) n.47C= | |
| 1 | g.43337895C>G | CA339972092 | MPL | c.47C>G (p.Ala16Gly) n.47C>G | |
| 1 | g.43337895C>T | CA339972094 | MPL | c.47C>T (p.Ala16Val) n.47C>T | dbSNP gnomAD v2 |
| 1 | g.43337896C>A | CA417416486 | MPL | c.48C>A (p.Ala16=) n.48C>A | |
| 1 | g.43337896C>G | CA417416487 | MPL | c.48C>G (p.Ala16=) n.48C>G | |
| 1 | g.43337896C>T | CA417416488 | MPL | c.48C>T (p.Ala16=) n.48C>T | dbSNP |
| 1 | g.43337897C>A | CA339972101 | MPL | c.49C>A (p.Pro17Thr) n.49C>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43337897C= | CA1165575798 | MPL | c.49C= (p.Pro17=) n.49C= | |
| 1 | g.43337897C>G | CA339972097 | MPL | c.49C>G (p.Pro17Ala) n.49C>G | |
| 1 | g.43337897C>T | CA339972099 | MPL | c.49C>T (p.Pro17Ser) n.49C>T | ClinVar dbSNP |
| 1 | g.43337898C>A | CA339972104 | MPL | c.50C>A (p.Pro17His) n.50C>A | |
| 1 | g.43337898C= | CA1165575799 | MPL | c.50C= (p.Pro17=) n.50C= | |
| 1 | g.43337898C>G | CA339972106 | MPL | c.50C>G (p.Pro17Arg) n.50C>G | |
| 1 | g.43337898C>T | CA339972109 | MPL | c.50C>T (p.Pro17Leu) n.50C>T | dbSNP gnomAD v2 |
| 1 | g.43337899T>A | CA417416491 | MPL | c.51T>A (p.Pro17=) n.51T>A | |
| 1 | g.43337899T>C | CA417416493 | MPL | c.51T>C (p.Pro17=) n.51T>C | dbSNP gnomAD v4 |
| 1 | g.43337899T>G | CA417416496 | MPL | c.51T>G (p.Pro17=) n.51T>G | ClinVar dbSNP |
| 1 | g.43337900C>A | CA339972112 | MPL | c.52C>A (p.Gln18Lys) n.52C>A | |
| 1 | g.43337900C>G | CA339972114 | MPL | c.52C>G (p.Gln18Glu) n.52C>G | gnomAD v4 |
| 1 | g.43337900C>T | CA339972116 | MPL | c.52C>T (p.Gln18Ter) n.52C>T | |
| 1 | g.43337901A>C | CA339972120 | MPL | c.53A>C (p.Gln18Pro) n.53A>C | |
| 1 | g.43337901A>G | CA339972122 | MPL | c.53A>G (p.Gln18Arg) n.53A>G | |
| 1 | g.43337901A>T | CA339972125 | MPL | c.53A>T (p.Gln18Leu) n.53A>T | |
| 1 | g.43337904del | CA2580062774 | MPL | c.56del (p.Asn19ThrfsTer20) c.56del (p.Asn19ThrfsTer13) n.56del c.56del (p.Asn19ThrfsTer28) | ClinVar dbSNP gnomAD v4 |
| 1 | g.43337902A>C | CA339972127 | MPL | c.54A>C (p.Gln18His) n.54A>C | |
| 1 | g.43337902A>G | CA417416497 | MPL | c.54A>G (p.Gln18=) n.54A>G | |
| 1 | g.43337902A>T | CA339972130 | MPL | c.54A>T (p.Gln18His) n.54A>T | |
| 1 | g.43337903A>C | CA339972134 | MPL | c.55A>C (p.Asn19His) n.55A>C | |
| 1 | g.43337903A>G | CA339972136 | MPL | c.55A>G (p.Asn19Asp) n.55A>G | |
| 1 | g.43337903A>T | CA339972132 | MPL | c.55A>T (p.Asn19Tyr) n.55A>T | |
| 1 | g.43337904A>C | CA339972143 | MPL | c.56A>C (p.Asn19Thr) n.56A>C | COSMIC COSMIC |
| 1 | g.43337904A>G | CA339972139 | MPL | c.56A>G (p.Asn19Ser) n.56A>G | |
| 1 | g.43337904A>T | CA339972141 | MPL | c.56A>T (p.Asn19Ile) n.56A>T | |
| 1 | g.43337905C>A | CA806552 | MPL | c.57C>A (p.Asn19Lys) n.57C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337905C= | CA1165575800 | MPL | c.57C= (p.Asn19=) n.57C= | |
| 1 | g.43337905C>G | CA339972148 | MPL | c.57C>G (p.Asn19Lys) n.57C>G | |
| 1 | g.43337905C>T | CA417416499 | MPL | c.57C>T (p.Asn19=) n.57C>T | gnomAD v4 |
| 1 | g.43337906C>A | CA339972151 | MPL | c.58C>A (p.Leu20Met) n.58C>A | |
| 1 | g.43337906C>G | CA339972153 | MPL | c.58C>G (p.Leu20Val) n.58C>G | |
| 1 | g.43337906C>T | CA417416501 | MPL | c.58C>T (p.Leu20=) n.58C>T | |
| 1 | g.43337907T>A | CA339972155 | MPL | c.59T>A (p.Leu20Gln) n.59T>A | |
| 1 | g.43337907T>C | CA339972157 | MPL | c.59T>C (p.Leu20Pro) n.59T>C | COSMIC COSMIC |
| 1 | g.43337907T>G | CA339972159 | MPL | c.59T>G (p.Leu20Arg) n.59T>G | |
| 1 | g.43337908G>A | CA806553 | MPL | c.60G>A (p.Leu20=) n.60G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.43337908G>C | CA417416502 | MPL | c.60G>C (p.Leu20=) n.60G>C | |
| 1 | g.43337908G= | CA1165575801 | MPL | c.60G= (p.Leu20=) n.60G= | |
| 1 | g.43337908G>T | CA417416505 | MPL | c.60G>T (p.Leu20=) n.60G>T | |
| 1 | g.43337909G>A | CA339972163 | MPL | c.61G>A (p.Ala21Thr) n.61G>A | dbSNP gnomAD v2 |
| 1 | g.43337909G>C | CA339972165 | MPL | c.61G>C (p.Ala21Pro) n.61G>C | |
| 1 | g.43337909G= | CA1165575802 | MPL | c.61G= (p.Ala21=) n.61G= | |
| 1 | g.43337909G>T | CA339972168 | MPL | c.61G>T (p.Ala21Ser) n.61G>T | gnomAD v4 COSMIC COSMIC |
| 1 | g.43337910C>A | CA339972171 | MPL | c.62C>A (p.Ala21Asp) n.62C>A | dbSNP |
| 1 | g.43337910C>G | CA339972169 | MPL | c.62C>G (p.Ala21Gly) n.62C>G | |
| 1 | g.43337910C>T | CA339972170 | MPL | c.62C>T (p.Ala21Val) n.62C>T | dbSNP gnomAD v4 COSMIC |
| 1 | g.43337911C>A | CA417416512 | MPL | c.63C>A (p.Ala21=) n.63C>A | |
| 1 | g.43337911C>G | CA417416513 | MPL | c.63C>G (p.Ala21=) n.63C>G | |
| 1 | g.43337911C>T | CA417416515 | MPL | c.63C>T (p.Ala21=) n.63C>T | |
| 1 | g.43337912C>A | CA339972172 | MPL | c.64C>A (p.Gln22Lys) n.64C>A | |
| 1 | g.43337912C>G | CA339972174 | MPL | c.64C>G (p.Gln22Glu) n.64C>G | |
| 1 | g.43337912C>T | CA339972176 | MPL | c.64C>T (p.Gln22Ter) n.64C>T | dbSNP |
| 1 | g.43337913A>C | CA339972180 | MPL | c.65A>C (p.Gln22Pro) n.65A>C | |
| 1 | g.43337913A>G | CA339972182 | MPL | c.65A>G (p.Gln22Arg) n.65A>G | |
| 1 | g.43337913A>T | CA339972183 | MPL | c.65A>T (p.Gln22Leu) n.65A>T | |
| 1 | g.43337914A>C | CA339972186 | MPL | c.66A>C (p.Gln22His) n.66A>C | |
| 1 | g.43337914A>G | CA417416517 | MPL | c.66A>G (p.Gln22=) n.66A>G | |
| 1 | g.43337914A>T | CA339972188 | MPL | c.66A>T (p.Gln22His) n.66A>T | |
| 1 | g.43337915G>A | CA339972193 | MPL | c.67G>A (p.Val23Ile) n.67G>A | |
| 1 | g.43337915G>C | CA339972197 | MPL | c.67G>C (p.Val23Leu) n.67G>C | |
| 1 | g.43337915G>T | CA339972205 | MPL | c.67G>T (p.Val23Phe) n.67G>T | |
| 1 | g.43337916T>A | CA339972215 | MPL | c.68T>A (p.Val23Asp) n.68T>A | dbSNP |
| 1 | g.43337916T>C | CA339972213 | MPL | c.68T>C (p.Val23Ala) n.68T>C | dbSNP |
| 1 | g.43337916T>G | CA339972208 | MPL | c.68T>G (p.Val23Gly) n.68T>G | |
| 1 | g.43337917C>A | CA417416520 | MPL | c.69C>A (p.Val23=) n.69C>A | ClinVar dbSNP |
| 1 | g.43337917C>G | CA417416522 | MPL | c.69C>G (p.Val23=) n.69C>G | |
| 1 | g.43337917C>T | CA417416524 | MPL | c.69C>T (p.Val23=) n.69C>T | gnomAD v4 |
| 1 | g.43337918A>C | CA339972219 | MPL | c.70A>C (p.Ser24Arg) n.70A>C | |
| 1 | g.43337918A>G | CA339972222 | MPL | c.70A>G (p.Ser24Gly) n.70A>G | |
| 1 | g.43337918A>T | CA339972226 | MPL | c.70A>T (p.Ser24Cys) n.70A>T | |
| 1 | g.43337919G>A | CA339972230 | MPL | c.71G>A (p.Ser24Asn) n.71G>A | dbSNP |
| 1 | g.43337919G>C | CA339972233 | MPL | c.71G>C (p.Ser24Thr) n.71G>C | |
| 1 | g.43337919G>T | CA339972236 | MPL | c.71G>T (p.Ser24Ile) n.71G>T | |
| 1 | g.43337920C>A | CA339972240 | MPL | c.72C>A (p.Ser24Arg) n.72C>A | |
| 1 | g.43337920C= | CA1142232949 | MPL | c.72C= (p.Ser24=) n.72C= | |
| 1 | g.43337920C>G | CA339972243 | MPL | c.72C>G (p.Ser24Arg) n.72C>G | |
| 1 | g.43337920C>T | CA806554 | MPL | c.72C>T (p.Ser24=) n.72C>T | dbSNP ExAC gnomAD v2 |
| 1 | g.43337921A>C | CA339972249 | MPL | c.73A>C (p.Ser25Arg) n.73A>C | |
| 1 | g.43337921A>G | CA339972252 | MPL | c.73A>G (p.Ser25Gly) n.73A>G | |
| 1 | g.43337921A>T | CA339972256 | MPL | c.73A>T (p.Ser25Cys) n.73A>T | |
| 1 | g.43337922G>A | CA339972269 | MPL | c.74G>A (p.Ser25Asn) n.74G>A | dbSNP |
| 1 | g.43337922G>C | CA339972266 | MPL | c.74G>C (p.Ser25Thr) n.74G>C | gnomAD v4 |
| 1 | g.43337922G>T | CA339972263 | MPL | c.74G>T (p.Ser25Ile) n.74G>T | |
| 1 | g.43337923C>A | CA339972273 | MPL | c.75C>A (p.Ser25Arg) n.75C>A | |
| 1 | g.43337923C>G | CA339972277 | MPL | c.75C>G (p.Ser25Arg) n.75C>G | |
| 1 | g.43337923C>T | CA417416527 | MPL | c.75C>T (p.Ser25=) n.75C>T | |
| 1 | g.43337924C>A | CA339972284 | MPL | c.76C>A (p.Gln26Lys) n.76C>A | gnomAD v4 |
| 1 | g.43337924C>G | CA339972287 | MPL | c.76C>G (p.Gln26Glu) n.76C>G | |
| 1 | g.43337924C>T | CA339972290 | MPL | c.76C>T (p.Gln26Ter) n.76C>T | |
| 1 | g.43337925A>C | CA339972295 | MPL | c.77A>C (p.Gln26Pro) n.77A>C | |
| 1 | g.43337925A>G | CA339972297 | MPL | c.77A>G (p.Gln26Arg) n.77A>G | |
| 1 | g.43337925A>T | CA339972301 | MPL | c.77A>T (p.Gln26Leu) n.77A>T | |
| 1 | g.43337926A>C | CA339972305 | MPL | c.78A>C (p.Gln26His) n.78A>C | |
| 1 | g.43337926A>G | CA417416530 | MPL | c.78A>G (p.Gln26=) n.78A>G | |
| 1 | g.43337926A>T | CA339972308 | MPL | c.78A>T (p.Gln26His) n.78A>T | |
| 1 | g.43337927G>A | CA339972313 | MPL | c.79G>A (p.Asp27Asn) n.79G>A c.79G>A (p.Gly27Ser) | |
| 1 | g.43337927G>C | CA339972315 | MPL | c.79G>C (p.Asp27His) n.79G>C c.79G>C (p.Gly27Arg) | |
| 1 | g.43337927G>T | CA339972318 | MPL | c.79G>T (p.Asp27Tyr) n.79G>T c.79G>T (p.Gly27Cys) | |
| 1 | g.43337928G>A | CA339972326 | MPL | c.79+1G>A (n.79+1G>A) n.79+1G>A c.80G>A (p.Gly27Asp) | ClinVar |
| 1 | g.43337928G>C | CA339972327 | MPL | c.79+1G>C (n.79+1G>C) n.79+1G>C c.80G>C (p.Gly27Ala) | |
| 1 | g.43337928G= | CA1165575803 | MPL | c.79+1G= (n.79+1G=) n.79+1G= c.80G= (p.Gly27=) | |
| 1 | g.43337928G>T | CA339972322 | MPL | c.79+1G>T (n.79+1G>T) n.79+1G>T c.80G>T (p.Gly27Val) | ClinVar dbSNP |
| 1 | g.43337929T>A | CA163017 | MPL | c.79+2T>A (n.79+2T>A) n.79+2T>A c.81T>A (p.Gly27=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337929T>C | CA339972332 | MPL | c.79+2T>C (n.79+2T>C) n.79+2T>C c.81T>C (p.Gly27=) | |
| 1 | g.43337929T>G | CA339972337 | MPL | c.79+2T>G (n.79+2T>G) n.79+2T>G c.81T>G (p.Gly27=) | |
| 1 | g.43337929T= | CA1142103834 | MPL | c.79+2T= (n.79+2T=) n.79+2T= c.81T= (p.Gly27=) | |
| 1 | g.43337930G>A | CA2645221705 | MPL | c.79+3G>A (n.79+3G>A) n.79+3G>A c.82G>A (p.Glu28Lys) | gnomAD v4 |
| 1 | g.43337931A>T | CA2645221706 | MPL | c.79+4A>T (n.79+4A>T) n.79+4A>T c.83A>T (p.Glu28Val) | gnomAD v4 |
| 1 | g.43337931_43337932delinsAG | CA1165575804 | MPL | c.79+4_79+5delinsAG (n.79+4_79+5delinsAG) n.79+4_79+5delinsAG c.83_84delinsAG (p.Glu28=) | |
| 1 | g.43337932G>A | CA2695811040 | MPL | c.79+5G>A (n.79+5G>A) n.79+5G>A c.84G>A (p.Glu28=) | dbSNP |
| 1 | g.43337932G= | CA1165575805 | MPL | c.79+5G= (n.79+5G=) n.79+5G= c.84G= (p.Glu28=) | |
| 1 | g.43337933del | CA522806058 | MPL | c.79+6del (n.79+6del) n.79+6del c.85del (p.Val29CysfsTer18) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337934_43337935insATGT | CA1165575806 | MPL | c.79+7_79+8insATGT (n.79+7_79+8insATGT) n.79+7_79+8insATGT c.86_87insATGT (p.His30CysfsTer27) | dbSNP |
| 1 | g.43337934T>C | CA2499214728 | MPL | c.79+7T>C (n.79+7T>C) n.79+7T>C c.86T>C (p.Val29Ala) | ClinVar dbSNP |
| 1 | g.43337935G>A | CA735989573 | MPL | c.79+8G>A (n.79+8G>A) n.79+8G>A c.87G>A (p.Val29=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43337935G>C | CA2580062775 | MPL | c.79+8G>C (n.79+8G>C) n.79+8G>C c.87G>C (p.Val29=) | ClinVar |
| 1 | g.43337935G= | CA1165575807 | MPL | c.79+8G= (n.79+8G=) n.79+8G= c.87G= (p.Val29=) | |
| 1 | g.43337935_43337939delinsGCACA | CA1165575808 | MPL | c.79+8_79+12delinsGCACA (n.79+8_79+12delinsGCACA) n.79+8_79+12delinsGCACA c.87_91delinsGCACA (p.Val29=) | |
| 1 | g.43337935_43337936insTGGAAAGTAGCTGCTGTATGATT | CA2645221709 | MPL | c.79+8_79+9insTGGAAAGTAGCTGCTGTATGATT (n.79+8_79+9insTGGAAAGTAGCTGCTGTATGATT) n.79+8_79+9insTGGAAAGTAGCTGCTGTATGATT c.87_88insTGGAAAGTAGCTGCTGTATGATT (p.His30TrpfsTer7) | gnomAD v4 |
| 1 | g.43337936C= | CA1165575810 | MPL | c.79+9C= (n.79+9C=) n.79+9C= c.88C= (p.His30=) | |
| 1 | g.43337936C>G | CA2740090645 | MPL | c.79+9C>G (n.79+9C>G) n.79+9C>G c.88C>G (p.His30Asp) | ClinVar |
| 1 | g.43337936C>T | CA522806059 | MPL | c.79+9C>T (n.79+9C>T) n.79+9C>T c.88C>T (p.His30Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337936_43337939del | CA1165575809 | MPL | c.79+9_79+12del (n.79+9_79+12del) n.79+9_79+12del c.88_91del (p.His30GlufsTer16) | dbSNP |
| 1 | g.43337937A>C | CA2740090646 | MPL | c.79+10A>C (n.79+10A>C) n.79+10A>C c.89A>C (p.His30Pro) | ClinVar |
| 1 | g.43337937A>G | CA2645221711 | MPL | c.79+10A>G (n.79+10A>G) n.79+10A>G c.89A>G (p.His30Arg) | gnomAD v4 |
| 1 | g.43337938C>A | CA2695581043 | MPL | c.79+11C>A (n.79+11C>A) n.79+11C>A c.90C>A (p.His30Gln) | dbSNP |
| 1 | g.43337938C= | CA1165575811 | MPL | c.79+11C= (n.79+11C=) n.79+11C= c.90C= (p.His30=) | |
| 1 | g.43337938C>G | CA1165575812 | MPL | c.79+11C>G (n.79+11C>G) n.79+11C>G c.90C>G (p.His30Gln) | dbSNP gnomAD v4 |
| 1 | g.43337938C>T | CA2645221712 | MPL | c.79+11C>T (n.79+11C>T) n.79+11C>T c.90C>T (p.His30=) | gnomAD v4 |
| 1 | g.43337940G>A | CA2695811046 | MPL | c.79+13G>A (n.79+13G>A) n.79+13G>A c.92G>A (p.Arg31Lys) | dbSNP |
| 1 | g.43337940G>C | CA2695811052 | MPL | c.79+13G>C (n.79+13G>C) n.79+13G>C c.92G>C (p.Arg31Thr) | dbSNP |
| 1 | g.43337942G>A | CA522806060 | MPL | c.79+15G>A (n.79+15G>A) n.79+15G>A c.94G>A (p.Gly32Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337942G>C | CA2740090647 | MPL | c.79+15G>C (n.79+15G>C) n.79+15G>C c.94G>C (p.Gly32Arg) | ClinVar |
| 1 | g.43337942G= | CA1165575813 | MPL | c.79+15G= (n.79+15G=) n.79+15G= c.94G= (p.Gly32=) | |
| 1 | g.43337943G>A | CA806555 | MPL | c.79+16G>A (n.79+16G>A) n.79+16G>A c.95G>A (p.Gly32Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337943G= | CA1146322615 | MPL | c.79+16G= (n.79+16G=) n.79+16G= c.95G= (p.Gly32=) | |
| 1 | g.43337943G>T | CA2740090648 | MPL | c.79+16G>T (n.79+16G>T) n.79+16G>T c.95G>T (p.Gly32Val) | ClinVar |
| 1 | g.43337944G>A | CA2740090649 | MPL | c.79+17G>A (n.79+17G>A) n.79+17G>A c.96G>A (p.Gly32=) | ClinVar |
| 1 | g.43337944G= | CA1165575814 | MPL | c.79+17G= (n.79+17G=) n.79+17G= c.96G= (p.Gly32=) | |
| 1 | g.43337944G>T | CA806556 | MPL | c.79+17G>T (n.79+17G>T) n.79+17G>T c.96G>T (p.Gly32=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.43337945T>C | CA2740090650 | MPL | c.79+18T>C (n.79+18T>C) n.79+18T>C c.97T>C (p.Trp33Arg) | ClinVar |
| 1 | g.43337945T>G | CA522806061 | MPL | c.79+18T>G (n.79+18T>G) n.79+18T>G c.97T>G (p.Trp33Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337945T= | CA1165575815 | MPL | c.79+18T= (n.79+18T=) n.79+18T= c.97T= (p.Trp33=) | |
| 1 | g.43337946G>A | CA2580062776 | MPL | c.79+19G>A (n.79+19G>A) n.79+19G>A c.98G>A (p.Trp33Ter) | ClinVar gnomAD v4 |
| 1 | g.43337947G>A | CA806557 | MPL | c.79+20G>A (n.79+20G>A) n.79+20G>A c.99G>A (p.Trp33Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337947G= | CA1148269045 | MPL | c.79+20G= (n.79+20G=) n.79+20G= c.99G= (p.Trp33=) | |
| 1 | g.43337950A>C | CA2645221719 | MPL | c.79+23A>C (n.79+23A>C) n.79+23A>C c.102A>C (p.Arg34Ser) | gnomAD v4 |
| 1 | g.43337950A>T | CA646326482 | MPL | c.79+23A>T (n.79+23A>T) n.79+23A>T c.102A>T (p.Arg34Ser) | COSMIC |
| 1 | g.43337952C>T | CA2645221721 | MPL | c.79+25C>T (n.79+25C>T) n.79+25C>T c.104C>T (p.Ser35Leu) | gnomAD v4 |
| 1 | g.43337955C= | CA1165575816 | MPL | c.79+28C= (n.79+28C=) n.79+28C= c.107C= (p.Pro36=) | |
| 1 | g.43337955C>T | CA522806062 | MPL | c.79+28C>T (n.79+28C>T) n.79+28C>T c.107C>T (p.Pro36Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337956T>C | CA2566302784 | MPL | c.79+29T>C (n.79+29T>C) n.79+29T>C c.108T>C (p.Pro36=) | |
| 1 | g.43337957A= | CA1143738416 | MPL | c.79+30A= (n.79+30A=) n.79+30A= c.109A= (p.Met37=) | |
| 1 | g.43337957A>G | CA2574340705 | MPL | c.79+30A>G (n.79+30A>G) n.79+30A>G c.109A>G (p.Met37Val) | |
| 1 | g.43337957A>T | CA806558 | MPL | c.79+30A>T (n.79+30A>T) n.79+30A>T c.109A>T (p.Met37Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337959G>A | CA522806063 | MPL | c.79+32G>A (n.79+32G>A) n.79+32G>A c.111G>A (p.Met37Ile) | dbSNP gnomAD v2 |
| 1 | g.43337959G= | CA1165575817 | MPL | c.79+32G= (n.79+32G=) n.79+32G= c.111G= (p.Met37=) | |
| 1 | g.43337959G>T | CA806559 | MPL | c.79+32G>T (n.79+32G>T) n.79+32G>T c.111G>T (p.Met37Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.43337960C>A | CA2645221725 | MPL | c.79+33C>A (n.79+33C>A) n.79+33C>A c.112C>A (p.Pro38Thr) | dbSNP gnomAD v4 |
| 1 | g.43337960C= | CA1165575818 | MPL | c.79+33C= (n.79+33C=) n.79+33C= c.112C= (p.Pro38=) | |
| 1 | g.43337960C>T | CA1165575819 | MPL | c.79+33C>T (n.79+33C>T) n.79+33C>T c.112C>T (p.Pro38Ser) | dbSNP gnomAD v4 |
| 1 | g.43337961C>A | CA2695811062 | MPL | c.79+34C>A (n.79+34C>A) n.79+34C>A c.113C>A (p.Pro38His) | dbSNP |
| 1 | g.43337961_43337965del | CA2645221726 | MPL | c.79+34_79+38del (n.79+34_79+38del) n.79+34_79+38del c.113_117del (p.Pro38GlnfsTer16) | gnomAD v4 |
| 1 | g.43337962C= | CA1165575820 | MPL | c.79+35C= (n.79+35C=) n.79+35C= c.114C= (p.Pro38=) | |
| 1 | g.43337962C>T | CA522806064 | MPL | c.79+35C>T (n.79+35C>T) n.79+35C>T c.114C>T (p.Pro38=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337964G>A | CA2695811169 | MPL | c.79+37G>A (n.79+37G>A) n.79+37G>A c.116G>A (p.Arg39Lys) | dbSNP |
| 1 | g.43337965del | CA2645221727 | MPL | c.79+38del (n.79+38del) n.79+38del c.117del (p.Lys40ArgfsTer7) | gnomAD v4 |
| 1 | g.43337965G>C | CA2695811233 | MPL | c.79+38G>C (n.79+38G>C) n.79+38G>C c.117G>C (p.Arg39Ser) | dbSNP |
| 1 | g.43337969A= | CA1147833418 | MPL | c.79+42A= (n.79+42A=) n.79+42A= c.121A= (p.Arg41=) | |
| 1 | g.43337969A>G | CA806560 | MPL | c.79+42A>G (n.79+42A>G) n.79+42A>G c.121A>G (p.Arg41Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337970G>C | CA806561 | MPL | c.79+43G>C (n.79+43G>C) n.79+43G>C c.122G>C (p.Arg41Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337970G= | CA1145458384 | MPL | c.79+43G= (n.79+43G=) n.79+43G= c.122G= (p.Arg41=) | |
| 1 | g.43337971G>A | CA2645221730 | MPL | c.79+44G>A (n.79+44G>A) n.79+44G>A c.123G>A (p.Arg41=) | gnomAD v4 |
| 1 | g.43337972G>A | CA2645221732 | MPL | c.79+45G>A (n.79+45G>A) n.79+45G>A c.124G>A (p.Glu42Lys) | gnomAD v4 |
| 1 | g.43337973A= | CA1165575821 | MPL | c.79+46A= (n.79+46A=) n.79+46A= c.125A= (p.Glu42=) | |
| 1 | g.43337973A>C | CA522806065 | MPL | c.79+46A>C (n.79+46A>C) n.79+46A>C c.125A>C (p.Glu42Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337973A>G | CA806562 | MPL | c.79+46A>G (n.79+46A>G) n.79+46A>G c.125A>G (p.Glu42Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43337973A>T | CA2695535471 | MPL | c.79+46A>T (n.79+46A>T) n.79+46A>T c.125A>T (p.Glu42Val) | dbSNP |
| 1 | g.43337974G>A | CA522806066 | MPL | c.79+47G>A (n.79+47G>A) n.79+47G>A c.126G>A (p.Glu42=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337974G= | CA1165575822 | MPL | c.79+47G= (n.79+47G=) n.79+47G= c.126G= (p.Glu42=) | |
| 1 | g.43337974G>T | CA21606782 | MPL | c.79+47G>T (n.79+47G>T) n.79+47G>T c.126G>T (p.Glu42Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43337975C>A | CA2645221734 | MPL | c.79+48C>A (n.79+48C>A) n.79+48C>A c.127C>A (p.Pro43Thr) | gnomAD v4 |
| 1 | g.43337975C>T | CA2695811262 | MPL | c.79+48C>T (n.79+48C>T) n.79+48C>T c.127C>T (p.Pro43Ser) | dbSNP |
| 1 | g.43337976C>T | CA2645221736 | MPL | c.79+49C>T (n.79+49C>T) n.79+49C>T c.128C>T (p.Pro43Leu) | gnomAD v4 |
| 1 | g.43337977C>G | CA2645221737 | MPL | c.79+50C>G (n.79+50C>G) n.79+50C>G c.129C>G (p.Pro43=) | gnomAD v4 |
| 1 | g.43337978T>C | CA2645221738 | MPL | c.79+51T>C (n.79+51T>C) n.79+51T>C c.130T>C (p.Trp44Arg) | gnomAD v4 |
| 1 | g.43337979G>A | CA522806067 | MPL | c.79+52G>A (n.79+52G>A) n.79+52G>A c.131G>A (p.Trp44Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43337979G= | CA1165575823 | MPL | c.79+52G= (n.79+52G=) n.79+52G= c.131G= (p.Trp44=) | |
| 1 | g.43337981dup | CA2574340706 | MPL | c.79+54dup (n.79+54dup) n.79+54dup c.133dup (p.Glu45GlyfsTer11) |