Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122261796A>C | CA354151298 | CASR | c.761A>C (p.His254Pro) c.278A>C (p.His93Pro) c.173A>C (p.His58Pro) | |
3 | g.122261796A>G | CA354151299 | CASR | c.761A>G (p.His254Arg) c.278A>G (p.His93Arg) c.173A>G (p.His58Arg) | |
3 | g.122261796A>T | CA354151300 | CASR | c.761A>T (p.His254Leu) c.278A>T (p.His93Leu) c.173A>T (p.His58Leu) | |
3 | g.122261797T>A | CA354151301 | CASR | c.762T>A (p.His254Gln) c.279T>A (p.His93Gln) c.174T>A (p.His58Gln) | |
3 | g.122261797T>C | CA2569531 | CASR | c.762T>C (p.His254=) c.279T>C (p.His93=) c.174T>C (p.His58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261797T>G | CA354151302 | CASR | c.762T>G (p.His254Gln) c.279T>G (p.His93Gln) c.174T>G (p.His58Gln) | |
3 | g.122261797T= | CA1397873084 | CASR | c.762T= (p.His254=) c.279T= (p.His93=) c.174T= (p.His58=) | |
3 | g.122261798G>A | CA354151303 | CASR | c.763G>A (p.Val255Met) c.280G>A (p.Val94Met) c.175G>A (p.Val59Met) | |
3 | g.122261798G>C | CA354151304 | CASR | c.763G>C (p.Val255Leu) c.280G>C (p.Val94Leu) c.175G>C (p.Val59Leu) | |
3 | g.122261798G>T | CA354151305 | CASR | c.763G>T (p.Val255Leu) c.280G>T (p.Val94Leu) c.175G>T (p.Val59Leu) | gnomAD v4 |
3 | g.122261799T>A | CA354151306 | CASR | c.764T>A (p.Val255Glu) c.281T>A (p.Val94Glu) c.176T>A (p.Val59Glu) | |
3 | g.122261799T>C | CA354151307 | CASR | c.764T>C (p.Val255Ala) c.281T>C (p.Val94Ala) c.176T>C (p.Val59Ala) | |
3 | g.122261799T>G | CA354151308 | CASR | c.764T>G (p.Val255Gly) c.281T>G (p.Val94Gly) c.176T>G (p.Val59Gly) | |
3 | g.122261800G>A | CA435424308 | CASR | c.765G>A (p.Val255=) c.282G>A (p.Val94=) c.177G>A (p.Val59=) | ClinVar dbSNP |
3 | g.122261800G>C | CA435424309 | CASR | c.765G>C (p.Val255=) c.282G>C (p.Val94=) c.177G>C (p.Val59=) | |
3 | g.122261800G>T | CA435424310 | CASR | c.765G>T (p.Val255=) c.282G>T (p.Val94=) c.177G>T (p.Val59=) | |
3 | g.122261801G>A | CA354151311 | CASR | c.766G>A (p.Val256Ile) c.283G>A (p.Val95Ile) c.178G>A (p.Val60Ile) | ClinVar gnomAD v4 |
3 | g.122261801G>C | CA354151309 | CASR | c.766G>C (p.Val256Leu) c.283G>C (p.Val95Leu) c.178G>C (p.Val60Leu) | |
3 | g.122261801G>T | CA354151310 | CASR | c.766G>T (p.Val256Leu) c.283G>T (p.Val95Leu) c.178G>T (p.Val60Leu) | |
3 | g.122261802T>A | CA354151312 | CASR | c.767T>A (p.Val256Glu) c.284T>A (p.Val95Glu) c.179T>A (p.Val60Glu) | |
3 | g.122261802T>C | CA354151313 | CASR | c.767T>C (p.Val256Ala) c.284T>C (p.Val95Ala) c.179T>C (p.Val60Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.122261802T>G | CA354151314 | CASR | c.767T>G (p.Val256Gly) c.284T>G (p.Val95Gly) c.179T>G (p.Val60Gly) | |
3 | g.122261802T= | CA1397873086 | CASR | c.767T= (p.Val256=) c.284T= (p.Val95=) c.179T= (p.Val60=) | |
3 | g.122261803A>C | CA435424319 | CASR | c.768A>C (p.Val256=) c.285A>C (p.Val95=) c.180A>C (p.Val60=) | |
3 | g.122261803A>G | CA435424321 | CASR | c.768A>G (p.Val256=) c.285A>G (p.Val95=) c.180A>G (p.Val60=) | dbSNP |
3 | g.122261803A>T | CA435424322 | CASR | c.768A>T (p.Val256=) c.285A>T (p.Val95=) c.180A>T (p.Val60=) | |
3 | g.122261804G>A | CA354151315 | CASR | c.769G>A (p.Glu257Lys) c.286G>A (p.Glu96Lys) c.181G>A (p.Glu61Lys) | |
3 | g.122261804G>C | CA354151316 | CASR | c.769G>C (p.Glu257Gln) c.286G>C (p.Glu96Gln) c.181G>C (p.Glu61Gln) | |
3 | g.122261804G>T | CA354151317 | CASR | c.769G>T (p.Glu257Ter) c.286G>T (p.Glu96Ter) c.181G>T (p.Glu61Ter) | |
3 | g.122261805A= | CA1397873087 | CASR | c.770A= (p.Glu257=) c.287A= (p.Glu96=) c.182A= (p.Glu61=) | |
3 | g.122261805A>C | CA354151318 | CASR | c.770A>C (p.Glu257Ala) c.287A>C (p.Glu96Ala) c.182A>C (p.Glu61Ala) | |
3 | g.122261805A>G | CA2569532 | CASR | c.770A>G (p.Glu257Gly) c.287A>G (p.Glu96Gly) c.182A>G (p.Glu61Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261805A>T | CA354151319 | CASR | c.770A>T (p.Glu257Val) c.287A>T (p.Glu96Val) c.182A>T (p.Glu61Val) | |
3 | g.122261806G>A | CA435424329 | CASR | c.771G>A (p.Glu257=) c.288G>A (p.Glu96=) c.183G>A (p.Glu61=) | |
3 | g.122261806G>C | CA354151320 | CASR | c.771G>C (p.Glu257Asp) c.288G>C (p.Glu96Asp) c.183G>C (p.Glu61Asp) | |
3 | g.122261806G>T | CA354151321 | CASR | c.771G>T (p.Glu257Asp) c.288G>T (p.Glu96Asp) c.183G>T (p.Glu61Asp) | |
3 | g.122261807G>A | CA354151324 | CASR | c.772G>A (p.Val258Met) c.289G>A (p.Val97Met) c.184G>A (p.Val62Met) | |
3 | g.122261807G>C | CA354151323 | CASR | c.772G>C (p.Val258Leu) c.289G>C (p.Val97Leu) c.184G>C (p.Val62Leu) | |
3 | g.122261807G>T | CA354151322 | CASR | c.772G>T (p.Val258Leu) c.289G>T (p.Val97Leu) c.184G>T (p.Val62Leu) | |
3 | g.122261807_122261808delinsA | CA2580068638 | CASR | c.772_773delinsA (p.Val258ArgfsTer?) c.289_290delinsA (p.Val97ArgfsTer?) c.184_185delinsA (p.Val62ArgfsTer?) | ClinVar |
3 | g.122261808T>A | CA354151325 | CASR | c.773T>A (p.Val258Glu) c.290T>A (p.Val97Glu) c.185T>A (p.Val62Glu) | gnomAD v4 |
3 | g.122261808T>C | CA2569533 | CASR | c.773T>C (p.Val258Ala) c.290T>C (p.Val97Ala) c.185T>C (p.Val62Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261808T>G | CA354151326 | CASR | c.773T>G (p.Val258Gly) c.290T>G (p.Val97Gly) c.185T>G (p.Val62Gly) | |
3 | g.122261808T= | CA1397873089 | CASR | c.773T= (p.Val258=) c.290T= (p.Val97=) c.185T= (p.Val62=) | |
3 | g.122261809G>A | CA435424339 | CASR | c.774G>A (p.Val258=) c.291G>A (p.Val97=) c.186G>A (p.Val62=) | |
3 | g.122261809G>C | CA435424340 | CASR | c.774G>C (p.Val258=) c.291G>C (p.Val97=) c.186G>C (p.Val62=) | |
3 | g.122261809G>T | CA435424341 | CASR | c.774G>T (p.Val258=) c.291G>T (p.Val97=) c.186G>T (p.Val62=) | |
3 | g.122261810A>C | CA354151327 | CASR | c.775A>C (p.Ile259Leu) c.292A>C (p.Ile98Leu) c.187A>C (p.Ile63Leu) | |
3 | g.122261810A>G | CA354151328 | CASR | c.775A>G (p.Ile259Val) c.292A>G (p.Ile98Val) c.187A>G (p.Ile63Val) | |
3 | g.122261810A>T | CA354151329 | CASR | c.775A>T (p.Ile259Phe) c.292A>T (p.Ile98Phe) c.187A>T (p.Ile63Phe) | |
3 | g.122261811T>A | CA354151330 | CASR | c.776T>A (p.Ile259Asn) c.293T>A (p.Ile98Asn) c.188T>A (p.Ile63Asn) | |
3 | g.122261811T>C | CA354151331 | CASR | c.776T>C (p.Ile259Thr) c.293T>C (p.Ile98Thr) c.188T>C (p.Ile63Thr) | ClinVar dbSNP gnomAD v2 |
3 | g.122261811T>G | CA354151332 | CASR | c.776T>G (p.Ile259Ser) c.293T>G (p.Ile98Ser) c.188T>G (p.Ile63Ser) | |
3 | g.122261811T= | CA1397873091 | CASR | c.776T= (p.Ile259=) c.293T= (p.Ile98=) c.188T= (p.Ile63=) | |
3 | g.122261812T>A | CA435424347 | CASR | c.777T>A (p.Ile259=) c.294T>A (p.Ile98=) c.189T>A (p.Ile63=) | |
3 | g.122261812T>C | CA435424348 | CASR | c.777T>C (p.Ile259=) c.294T>C (p.Ile98=) c.189T>C (p.Ile63=) | |
3 | g.122261812T>G | CA354151333 | CASR | c.777T>G (p.Ile259Met) c.294T>G (p.Ile98Met) c.189T>G (p.Ile63Met) | |
3 | g.122261813C>A | CA354151334 | CASR | c.778C>A (p.Gln260Lys) c.295C>A (p.Gln99Lys) c.190C>A (p.Gln64Lys) | |
3 | g.122261813C= | CA1397873092 | CASR | c.778C= (p.Gln260=) c.295C= (p.Gln99=) c.190C= (p.Gln64=) | |
3 | g.122261813C>G | CA354151335 | CASR | c.778C>G (p.Gln260Glu) c.295C>G (p.Gln99Glu) c.190C>G (p.Gln64Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.122261813C>T | CA354151336 | CASR | c.778C>T (p.Gln260Ter) c.295C>T (p.Gln99Ter) c.190C>T (p.Gln64Ter) | |
3 | g.122261814A= | CA1397873095 | CASR | c.779A= (p.Gln260=) c.296A= (p.Gln99=) c.191A= (p.Gln64=) | |
3 | g.122261814A>C | CA354151337 | CASR | c.779A>C (p.Gln260Pro) c.296A>C (p.Gln99Pro) c.191A>C (p.Gln64Pro) | |
3 | g.122261814A>G | CA2569534 | CASR | c.779A>G (p.Gln260Arg) c.296A>G (p.Gln99Arg) c.191A>G (p.Gln64Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261814A>T | CA354151338 | CASR | c.779A>T (p.Gln260Leu) c.296A>T (p.Gln99Leu) c.191A>T (p.Gln64Leu) | |
3 | g.122261815A= | CA1397873097 | CASR | c.780A= (p.Gln260=) c.297A= (p.Gln99=) c.192A= (p.Gln64=) | |
3 | g.122261815A>C | CA354151339 | CASR | c.780A>C (p.Gln260His) c.297A>C (p.Gln99His) c.192A>C (p.Gln64His) | |
3 | g.122261815A>G | CA16611290 | CASR | c.780A>G (p.Gln260=) c.297A>G (p.Gln99=) c.192A>G (p.Gln64=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261815A>T | CA354151340 | CASR | c.780A>T (p.Gln260His) c.297A>T (p.Gln99His) c.192A>T (p.Gln64His) | |
3 | g.122261816A>C | CA354151341 | CASR | c.781A>C (p.Asn261His) c.298A>C (p.Asn100His) c.193A>C (p.Asn65His) | |
3 | g.122261816A>G | CA354151342 | CASR | c.781A>G (p.Asn261Asp) c.298A>G (p.Asn100Asp) c.193A>G (p.Asn65Asp) | |
3 | g.122261816A>T | CA354151343 | CASR | c.781A>T (p.Asn261Tyr) c.298A>T (p.Asn100Tyr) c.193A>T (p.Asn65Tyr) | |
3 | g.122261817A= | CA1397873099 | CASR | c.782A= (p.Asn261=) c.299A= (p.Asn100=) c.194A= (p.Asn65=) | |
3 | g.122261817A>C | CA354151344 | CASR | c.782A>C (p.Asn261Thr) c.299A>C (p.Asn100Thr) c.194A>C (p.Asn65Thr) | ClinVar dbSNP |
3 | g.122261817A>G | CA354151345 | CASR | c.782A>G (p.Asn261Ser) c.299A>G (p.Asn100Ser) c.194A>G (p.Asn65Ser) | |
3 | g.122261817A>T | CA354151346 | CASR | c.782A>T (p.Asn261Ile) c.299A>T (p.Asn100Ile) c.194A>T (p.Asn65Ile) | |
3 | g.122261818T>A | CA354151347 | CASR | c.783T>A (p.Asn261Lys) c.300T>A (p.Asn100Lys) c.195T>A (p.Asn65Lys) | |
3 | g.122261818T>C | CA435424356 | CASR | c.783T>C (p.Asn261=) c.300T>C (p.Asn100=) c.195T>C (p.Asn65=) | ClinVar dbSNP |
3 | g.122261818T>G | CA354151348 | CASR | c.783T>G (p.Asn261Lys) c.300T>G (p.Asn100Lys) c.195T>G (p.Asn65Lys) | |
3 | g.122261818T= | CA1397873100 | CASR | c.783T= (p.Asn261=) c.300T= (p.Asn100=) c.195T= (p.Asn65=) | |
3 | g.122261819T>A | CA354151349 | CASR | c.784T>A (p.Ser262Thr) c.301T>A (p.Ser101Thr) c.196T>A (p.Ser66Thr) | |
3 | g.122261819T>C | CA354151350 | CASR | c.784T>C (p.Ser262Pro) c.301T>C (p.Ser101Pro) c.196T>C (p.Ser66Pro) | |
3 | g.122261819T>G | CA354151351 | CASR | c.784T>G (p.Ser262Ala) c.301T>G (p.Ser101Ala) c.196T>G (p.Ser66Ala) | |
3 | g.122261820C>A | CA354151353 | CASR | c.785C>A (p.Ser262Tyr) c.302C>A (p.Ser101Tyr) c.197C>A (p.Ser66Tyr) | |
3 | g.122261820C>G | CA354151354 | CASR | c.785C>G (p.Ser262Cys) c.302C>G (p.Ser101Cys) c.197C>G (p.Ser66Cys) | |
3 | g.122261820C>T | CA354151352 | CASR | c.785C>T (p.Ser262Phe) c.302C>T (p.Ser101Phe) c.197C>T (p.Ser66Phe) | |
3 | g.122261821C>A | CA435424364 | CASR | c.786C>A (p.Ser262=) c.303C>A (p.Ser101=) c.198C>A (p.Ser66=) | |
3 | g.122261821C>G | CA435424365 | CASR | c.786C>G (p.Ser262=) c.303C>G (p.Ser101=) c.198C>G (p.Ser66=) | |
3 | g.122261821C>T | CA435424368 | CASR | c.786C>T (p.Ser262=) c.303C>T (p.Ser101=) c.198C>T (p.Ser66=) | |
3 | g.122261822A= | CA1397873102 | CASR | c.787A= (p.Thr263=) c.304A= (p.Thr102=) c.199A= (p.Thr67=) | |
3 | g.122261822A>C | CA354151355 | CASR | c.787A>C (p.Thr263Pro) c.304A>C (p.Thr102Pro) c.199A>C (p.Thr67Pro) | |
3 | g.122261822A>G | CA354151356 | CASR | c.787A>G (p.Thr263Ala) c.304A>G (p.Thr102Ala) c.199A>G (p.Thr67Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261822A>T | CA354151357 | CASR | c.787A>T (p.Thr263Ser) c.304A>T (p.Thr102Ser) c.199A>T (p.Thr67Ser) | |
3 | g.122261823C>A | CA2569536 | CASR | c.788C>A (p.Thr263Lys) c.305C>A (p.Thr102Lys) c.200C>A (p.Thr67Lys) | dbSNP ExAC |
3 | g.122261823C= | CA1397873104 | CASR | c.788C= (p.Thr263=) c.305C= (p.Thr102=) c.200C= (p.Thr67=) | |
3 | g.122261823C>G | CA354151358 | CASR | c.788C>G (p.Thr263Arg) c.305C>G (p.Thr102Arg) c.200C>G (p.Thr67Arg) | |
3 | g.122261823C>T | CA2569535 | CASR | c.788C>T (p.Thr263Met) c.305C>T (p.Thr102Met) c.200C>T (p.Thr67Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
3 | g.122261824G>A | CA82738552 | CASR | c.789G>A (p.Thr263=) c.306G>A (p.Thr102=) c.201G>A (p.Thr67=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261824G>C | CA435424372 | CASR | c.789G>C (p.Thr263=) c.306G>C (p.Thr102=) c.201G>C (p.Thr67=) | |
3 | g.122261824G= | CA1397873106 | CASR | c.789G= (p.Thr263=) c.306G= (p.Thr102=) c.201G= (p.Thr67=) | |
3 | g.122261824G>T | CA435424374 | CASR | c.789G>T (p.Thr263=) c.306G>T (p.Thr102=) c.201G>T (p.Thr67=) | gnomAD v4 |
3 | g.122261825G>A | CA354151359 | CASR | c.790G>A (p.Ala264Thr) c.307G>A (p.Ala103Thr) c.202G>A (p.Ala68Thr) | ClinVar COSMIC |
3 | g.122261825G>C | CA354151360 | CASR | c.790G>C (p.Ala264Pro) c.307G>C (p.Ala103Pro) c.202G>C (p.Ala68Pro) | |
3 | g.122261825G>T | CA354151361 | CASR | c.790G>T (p.Ala264Ser) c.307G>T (p.Ala103Ser) c.202G>T (p.Ala68Ser) | |
3 | g.122261826C>A | CA354151362 | CASR | c.791C>A (p.Ala264Asp) c.308C>A (p.Ala103Asp) c.203C>A (p.Ala68Asp) | |
3 | g.122261826C>G | CA354151363 | CASR | c.791C>G (p.Ala264Gly) c.308C>G (p.Ala103Gly) c.203C>G (p.Ala68Gly) | ClinVar |
3 | g.122261826C>T | CA354151364 | CASR | c.791C>T (p.Ala264Val) c.308C>T (p.Ala103Val) c.203C>T (p.Ala68Val) | ClinVar gnomAD v4 |
3 | g.122261827del | CA2603853746 | CASR | c.792del (p.Val266SerfsTer?) c.309del (p.Val105SerfsTer?) c.204del (p.Val70SerfsTer?) | gnomAD v3 gnomAD v4 |
3 | g.122261827C>A | CA435424375 | CASR | c.792C>A (p.Ala264=) c.309C>A (p.Ala103=) c.204C>A (p.Ala68=) | |
3 | g.122261827C>G | CA435424376 | CASR | c.792C>G (p.Ala264=) c.309C>G (p.Ala103=) c.204C>G (p.Ala68=) | |
3 | g.122261827C>T | CA435424377 | CASR | c.792C>T (p.Ala264=) c.309C>T (p.Ala103=) c.204C>T (p.Ala68=) | |
3 | g.122261828A>C | CA354151367 | CASR | c.793A>C (p.Lys265Gln) c.310A>C (p.Lys104Gln) c.205A>C (p.Lys69Gln) | |
3 | g.122261828A>G | CA354151366 | CASR | c.793A>G (p.Lys265Glu) c.310A>G (p.Lys104Glu) c.205A>G (p.Lys69Glu) | |
3 | g.122261828A>T | CA354151365 | CASR | c.793A>T (p.Lys265Ter) c.310A>T (p.Lys104Ter) c.205A>T (p.Lys69Ter) | |
3 | g.122261829A>C | CA354151368 | CASR | c.794A>C (p.Lys265Thr) c.311A>C (p.Lys104Thr) c.206A>C (p.Lys69Thr) | |
3 | g.122261829A>G | CA354151369 | CASR | c.794A>G (p.Lys265Arg) c.311A>G (p.Lys104Arg) c.206A>G (p.Lys69Arg) | ClinVar |
3 | g.122261829A>T | CA354151370 | CASR | c.794A>T (p.Lys265Ile) c.311A>T (p.Lys104Ile) c.206A>T (p.Lys69Ile) | |
3 | g.122261830A>C | CA354151371 | CASR | c.795A>C (p.Lys265Asn) c.312A>C (p.Lys104Asn) c.207A>C (p.Lys69Asn) | |
3 | g.122261830A>G | CA435424382 | CASR | c.795A>G (p.Lys265=) c.312A>G (p.Lys104=) c.207A>G (p.Lys69=) | ClinVar dbSNP |
3 | g.122261830A>T | CA354151372 | CASR | c.795A>T (p.Lys265Asn) c.312A>T (p.Lys104Asn) c.207A>T (p.Lys69Asn) | |
3 | g.122261831G>A | CA354151373 | CASR | c.796G>A (p.Val266Ile) c.313G>A (p.Val105Ile) c.208G>A (p.Val70Ile) | ClinVar dbSNP |
3 | g.122261831G>C | CA354151374 | CASR | c.796G>C (p.Val266Leu) c.313G>C (p.Val105Leu) c.208G>C (p.Val70Leu) | |
3 | g.122261831G= | CA1397873108 | CASR | c.796G= (p.Val266=) c.313G= (p.Val105=) c.208G= (p.Val70=) | |
3 | g.122261831G>T | CA354151375 | CASR | c.796G>T (p.Val266Phe) c.313G>T (p.Val105Phe) c.208G>T (p.Val70Phe) | |
3 | g.122261832T>A | CA354151376 | CASR | c.797T>A (p.Val266Asp) c.314T>A (p.Val105Asp) c.209T>A (p.Val70Asp) | |
3 | g.122261832T>C | CA354151377 | CASR | c.797T>C (p.Val266Ala) c.314T>C (p.Val105Ala) c.209T>C (p.Val70Ala) | |
3 | g.122261832T>G | CA354151378 | CASR | c.797T>G (p.Val266Gly) c.314T>G (p.Val105Gly) c.209T>G (p.Val70Gly) | ClinVar |
3 | g.122261833C>A | CA435424389 | CASR | c.798C>A (p.Val266=) c.315C>A (p.Val105=) c.210C>A (p.Val70=) | |
3 | g.122261833C>G | CA435424387 | CASR | c.798C>G (p.Val266=) c.315C>G (p.Val105=) c.210C>G (p.Val70=) | |
3 | g.122261833C>T | CA435424388 | CASR | c.798C>T (p.Val266=) c.315C>T (p.Val105=) c.210C>T (p.Val70=) | ClinVar gnomAD v4 |
3 | g.122261834A>C | CA354151379 | CASR | c.799A>C (p.Ile267Leu) c.316A>C (p.Ile106Leu) c.211A>C (p.Ile71Leu) | |
3 | g.122261834A>G | CA354151380 | CASR | c.799A>G (p.Ile267Val) c.316A>G (p.Ile106Val) c.211A>G (p.Ile71Val) | |
3 | g.122261834A>T | CA354151381 | CASR | c.799A>T (p.Ile267Phe) c.316A>T (p.Ile106Phe) c.211A>T (p.Ile71Phe) | |
3 | g.122261835T>A | CA354151383 | CASR | c.800T>A (p.Ile267Asn) c.317T>A (p.Ile106Asn) c.212T>A (p.Ile71Asn) | |
3 | g.122261835T>C | CA354151384 | CASR | c.800T>C (p.Ile267Thr) c.317T>C (p.Ile106Thr) c.212T>C (p.Ile71Thr) | |
3 | g.122261835T>G | CA354151382 | CASR | c.800T>G (p.Ile267Ser) c.317T>G (p.Ile106Ser) c.212T>G (p.Ile71Ser) | |
3 | g.122261836C>A | CA2569537 | CASR | c.801C>A (p.Ile267=) c.318C>A (p.Ile106=) c.213C>A (p.Ile71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261836C= | CA1397873109 | CASR | c.801C= (p.Ile267=) c.318C= (p.Ile106=) c.213C= (p.Ile71=) | |
3 | g.122261836C>G | CA354151385 | CASR | c.801C>G (p.Ile267Met) c.318C>G (p.Ile106Met) c.213C>G (p.Ile71Met) | |
3 | g.122261836C>T | CA82738553 | CASR | c.801C>T (p.Ile267=) c.318C>T (p.Ile106=) c.213C>T (p.Ile71=) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261837G>A | CA354151386 | CASR | c.802G>A (p.Val268Met) c.319G>A (p.Val107Met) c.214G>A (p.Val72Met) | ClinVar dbSNP gnomAD v4 |
3 | g.122261837G>C | CA354151388 | CASR | c.802G>C (p.Val268Leu) c.319G>C (p.Val107Leu) c.214G>C (p.Val72Leu) | |
3 | g.122261837G= | CA1397873111 | CASR | c.802G= (p.Val268=) c.319G= (p.Val107=) c.214G= (p.Val72=) | |
3 | g.122261837G>T | CA354151387 | CASR | c.802G>T (p.Val268Leu) c.319G>T (p.Val107Leu) c.214G>T (p.Val72Leu) | gnomAD v4 |
3 | g.122261838T>A | CA354151389 | CASR | c.803T>A (p.Val268Glu) c.320T>A (p.Val107Glu) c.215T>A (p.Val72Glu) | |
3 | g.122261838T>C | CA354151390 | CASR | c.803T>C (p.Val268Ala) c.320T>C (p.Val107Ala) c.215T>C (p.Val72Ala) | |
3 | g.122261838T>G | CA354151391 | CASR | c.803T>G (p.Val268Gly) c.320T>G (p.Val107Gly) c.215T>G (p.Val72Gly) | |
3 | g.122261839G>A | CA435424398 | CASR | c.804G>A (p.Val268=) c.321G>A (p.Val107=) c.216G>A (p.Val72=) | |
3 | g.122261839G>C | CA435424401 | CASR | c.804G>C (p.Val268=) c.321G>C (p.Val107=) c.216G>C (p.Val72=) | |
3 | g.122261839G>T | CA435424400 | CASR | c.804G>T (p.Val268=) c.321G>T (p.Val107=) c.216G>T (p.Val72=) | |
3 | g.122261840_122261850del | CA2586972805 | CASR | c.805_815del (p.Val269TrpfsTer5) c.322_332del (p.Val108TrpfsTer5) c.217_227del (p.Val73TrpfsTer5) | |
3 | g.122261840G>A | CA354151392 | CASR | c.805G>A (p.Val269Ile) c.322G>A (p.Val108Ile) c.217G>A (p.Val73Ile) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261840G>C | CA354151393 | CASR | c.805G>C (p.Val269Leu) c.322G>C (p.Val108Leu) c.217G>C (p.Val73Leu) | |
3 | g.122261840G= | CA1397873113 | CASR | c.805G= (p.Val269=) c.322G= (p.Val108=) c.217G= (p.Val73=) | |
3 | g.122261840G>T | CA354151394 | CASR | c.805G>T (p.Val269Phe) c.322G>T (p.Val108Phe) c.217G>T (p.Val73Phe) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261841T>A | CA354151395 | CASR | c.806T>A (p.Val269Asp) c.323T>A (p.Val108Asp) c.218T>A (p.Val73Asp) | |
3 | g.122261841T>C | CA354151396 | CASR | c.806T>C (p.Val269Ala) c.323T>C (p.Val108Ala) c.218T>C (p.Val73Ala) | |
3 | g.122261841T>G | CA354151397 | CASR | c.806T>G (p.Val269Gly) c.323T>G (p.Val108Gly) c.218T>G (p.Val73Gly) | |
3 | g.122261842T>A | CA435424405 | CASR | c.807T>A (p.Val269=) c.324T>A (p.Val108=) c.219T>A (p.Val73=) | |
3 | g.122261842T>C | CA435424406 | CASR | c.807T>C (p.Val269=) c.324T>C (p.Val108=) c.219T>C (p.Val73=) | |
3 | g.122261842T>G | CA435424407 | CASR | c.807T>G (p.Val269=) c.324T>G (p.Val108=) c.219T>G (p.Val73=) | |
3 | g.122261843T>A | CA354151398 | CASR | c.808T>A (p.Phe270Ile) c.325T>A (p.Phe109Ile) c.220T>A (p.Phe74Ile) | |
3 | g.122261843T>C | CA354151399 | CASR | c.808T>C (p.Phe270Leu) c.325T>C (p.Phe109Leu) c.220T>C (p.Phe74Leu) | COSMIC |
3 | g.122261843T>G | CA354151400 | CASR | c.808T>G (p.Phe270Val) c.325T>G (p.Phe109Val) c.220T>G (p.Phe74Val) | |
3 | g.122261844T>A | CA354151401 | CASR | c.809T>A (p.Phe270Tyr) c.326T>A (p.Phe109Tyr) c.221T>A (p.Phe74Tyr) | gnomAD v4 |
3 | g.122261844T>C | CA354151403 | CASR | c.809T>C (p.Phe270Ser) c.326T>C (p.Phe109Ser) c.221T>C (p.Phe74Ser) | |
3 | g.122261844T>G | CA354151402 | CASR | c.809T>G (p.Phe270Cys) c.326T>G (p.Phe109Cys) c.221T>G (p.Phe74Cys) | |
3 | g.122261845C>A | CA354151404 | CASR | c.810C>A (p.Phe270Leu) c.327C>A (p.Phe109Leu) c.222C>A (p.Phe74Leu) | gnomAD v4 |
3 | g.122261845C>G | CA354151405 | CASR | c.810C>G (p.Phe270Leu) c.327C>G (p.Phe109Leu) c.222C>G (p.Phe74Leu) | |
3 | g.122261845C>T | CA435424410 | CASR | c.810C>T (p.Phe270=) c.327C>T (p.Phe109=) c.222C>T (p.Phe74=) | |
3 | g.122261846T>A | CA354151406 | CASR | c.811T>A (p.Ser271Thr) c.328T>A (p.Ser110Thr) c.223T>A (p.Ser75Thr) | |
3 | g.122261846T>C | CA354151407 | CASR | c.811T>C (p.Ser271Pro) c.328T>C (p.Ser110Pro) c.223T>C (p.Ser75Pro) | ClinVar gnomAD v4 |
3 | g.122261846T>G | CA354151408 | CASR | c.811T>G (p.Ser271Ala) c.328T>G (p.Ser110Ala) c.223T>G (p.Ser75Ala) | |
3 | g.122261847C>A | CA354151409 | CASR | c.812C>A (p.Ser271Tyr) c.329C>A (p.Ser110Tyr) c.224C>A (p.Ser75Tyr) | |
3 | g.122261847C>G | CA354151410 | CASR | c.812C>G (p.Ser271Cys) c.329C>G (p.Ser110Cys) c.224C>G (p.Ser75Cys) | |
3 | g.122261847C>T | CA354151411 | CASR | c.812C>T (p.Ser271Phe) c.329C>T (p.Ser110Phe) c.224C>T (p.Ser75Phe) | COSMIC |
3 | g.122261848C>A | CA2569538 | CASR | c.813C>A (p.Ser271=) c.330C>A (p.Ser110=) c.225C>A (p.Ser75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261848C= | CA1397873115 | CASR | c.813C= (p.Ser271=) c.330C= (p.Ser110=) c.225C= (p.Ser75=) | |
3 | g.122261848C>G | CA435424416 | CASR | c.813C>G (p.Ser271=) c.330C>G (p.Ser110=) c.225C>G (p.Ser75=) | |
3 | g.122261848C>T | CA435424418 | CASR | c.813C>T (p.Ser271=) c.330C>T (p.Ser110=) c.225C>T (p.Ser75=) | |
3 | g.122261849A= | CA1397873116 | CASR | c.814A= (p.Ser272=) c.331A= (p.Ser111=) c.226A= (p.Ser76=) | |
3 | g.122261849A>C | CA354151413 | CASR | c.814A>C (p.Ser272Arg) c.331A>C (p.Ser111Arg) c.226A>C (p.Ser76Arg) | |
3 | g.122261849A>G | CA2569539 | CASR | c.814A>G (p.Ser272Gly) c.331A>G (p.Ser111Gly) c.226A>G (p.Ser76Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261849A>T | CA354151412 | CASR | c.814A>T (p.Ser272Cys) c.331A>T (p.Ser111Cys) c.226A>T (p.Ser76Cys) | |
3 | g.122261850G>A | CA354151414 | CASR | c.815G>A (p.Ser272Asn) c.332G>A (p.Ser111Asn) c.227G>A (p.Ser76Asn) | ClinVar dbSNP |
3 | g.122261850G>C | CA354151415 | CASR | c.815G>C (p.Ser272Thr) c.332G>C (p.Ser111Thr) c.227G>C (p.Ser76Thr) | |
3 | g.122261850G= | CA1397873118 | CASR | c.815G= (p.Ser272=) c.332G= (p.Ser111=) c.227G= (p.Ser76=) | |
3 | g.122261850G>T | CA354151416 | CASR | c.815G>T (p.Ser272Ile) c.332G>T (p.Ser111Ile) c.227G>T (p.Ser76Ile) | |
3 | g.122261851T>A | CA354151417 | CASR | c.816T>A (p.Ser272Arg) c.333T>A (p.Ser111Arg) c.228T>A (p.Ser76Arg) | ClinVar dbSNP |
3 | g.122261851T>C | CA435424420 | CASR | c.816T>C (p.Ser272=) c.333T>C (p.Ser111=) c.228T>C (p.Ser76=) | ClinVar |
3 | g.122261851T>G | CA354151418 | CASR | c.816T>G (p.Ser272Arg) c.333T>G (p.Ser111Arg) c.228T>G (p.Ser76Arg) | |
3 | g.122261851_122261853delinsTGG | CA1397873120 | CASR | c.816_818delinsTGG (p.Ser272=) c.333_335delinsTGG (p.Ser111=) c.228_230delinsTGG (p.Ser76=) | |
3 | g.122261852G>A | CA354151419 | CASR | c.817G>A (p.Gly273Ser) c.334G>A (p.Gly112Ser) c.229G>A (p.Gly77Ser) | |
3 | g.122261852G>C | CA354151420 | CASR | c.817G>C (p.Gly273Arg) c.334G>C (p.Gly112Arg) c.229G>C (p.Gly77Arg) | |
3 | g.122261852G>T | CA354151421 | CASR | c.817G>T (p.Gly273Cys) c.334G>T (p.Gly112Cys) c.229G>T (p.Gly77Cys) | |
3 | g.122261852_122261853del | CA2569540 | CASR | c.817_818del (p.Gly273ProfsTer4) c.334_335del (p.Gly112ProfsTer4) c.229_230del (p.Gly77ProfsTer4) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261853G>A | CA354151422 | CASR | c.818G>A (p.Gly273Asp) c.335G>A (p.Gly112Asp) c.230G>A (p.Gly77Asp) | |
3 | g.122261853G>C | CA354151423 | CASR | c.818G>C (p.Gly273Ala) c.335G>C (p.Gly112Ala) c.230G>C (p.Gly77Ala) | ClinVar dbSNP |
3 | g.122261853G= | CA1397873122 | CASR | c.818G= (p.Gly273=) c.335G= (p.Gly112=) c.230G= (p.Gly77=) | |
3 | g.122261853G>T | CA354151424 | CASR | c.818G>T (p.Gly273Val) c.335G>T (p.Gly112Val) c.230G>T (p.Gly77Val) | |
3 | g.122261854C>A | CA435424423 | CASR | c.819C>A (p.Gly273=) c.336C>A (p.Gly112=) c.231C>A (p.Gly77=) | |
3 | g.122261854C>G | CA435424422 | CASR | c.819C>G (p.Gly273=) c.336C>G (p.Gly112=) c.231C>G (p.Gly77=) | |
3 | g.122261854C>T | CA435424421 | CASR | c.819C>T (p.Gly273=) c.336C>T (p.Gly112=) c.231C>T (p.Gly77=) | ClinVar dbSNP gnomAD v4 |
3 | g.122261855C>A | CA354151427 | CASR | c.820C>A (p.Pro274Thr) c.337C>A (p.Pro113Thr) c.232C>A (p.Pro78Thr) | ClinVar |
3 | g.122261855C= | CA1397873123 | CASR | c.820C= (p.Pro274=) c.337C= (p.Pro113=) c.232C= (p.Pro78=) | |
3 | g.122261855C>G | CA354151425 | CASR | c.820C>G (p.Pro274Ala) c.337C>G (p.Pro113Ala) c.232C>G (p.Pro78Ala) | ClinVar |
3 | g.122261855C>T | CA354151426 | CASR | c.820C>T (p.Pro274Ser) c.337C>T (p.Pro113Ser) c.232C>T (p.Pro78Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261856C>A | CA354151428 | CASR | c.821C>A (p.Pro274Gln) c.338C>A (p.Pro113Gln) c.233C>A (p.Pro78Gln) | |
3 | g.122261856C= | CA1397873125 | CASR | c.821C= (p.Pro274=) c.338C= (p.Pro113=) c.233C= (p.Pro78=) | |
3 | g.122261856C>G | CA354151429 | CASR | c.821C>G (p.Pro274Arg) c.338C>G (p.Pro113Arg) c.233C>G (p.Pro78Arg) | |
3 | g.122261856C>T | CA82738561 | CASR | c.821C>T (p.Pro274Leu) c.338C>T (p.Pro113Leu) c.233C>T (p.Pro78Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.122261856_122261858delinsCAG | CA1397873124 | CASR | c.821_823delinsCAG (p.Pro274=) c.338_340delinsCAG (p.Pro113=) c.233_235delinsCAG (p.Pro78=) | |
3 | g.122261857A= | CA1397873128 | CASR | c.822A= (p.Pro274=) c.339A= (p.Pro113=) c.234A= (p.Pro78=) | |
3 | g.122261857A>C | CA435424428 | CASR | c.822A>C (p.Pro274=) c.339A>C (p.Pro113=) c.234A>C (p.Pro78=) | dbSNP |
3 | g.122261857A>G | CA435424426 | CASR | c.822A>G (p.Pro274=) c.339A>G (p.Pro113=) c.234A>G (p.Pro78=) | |
3 | g.122261857A>T | CA435424425 | CASR | c.822A>T (p.Pro274=) c.339A>T (p.Pro113=) c.234A>T (p.Pro78=) | |
3 | g.122261858_122261859del | CA658657326 | CASR | c.823_824del (p.Asp275SerfsTer2) c.340_341del (p.Asp114SerfsTer2) c.235_236del (p.Asp79SerfsTer2) | ClinVar dbSNP |
3 | g.122261858G>A | CA354151430 | CASR | c.823G>A (p.Asp275Asn) c.340G>A (p.Asp114Asn) c.235G>A (p.Asp79Asn) | COSMIC |
3 | g.122261858G>C | CA354151431 | CASR | c.823G>C (p.Asp275His) c.340G>C (p.Asp114His) c.235G>C (p.Asp79His) | |
3 | g.122261858G= | CA1397873130 | CASR | c.823G= (p.Asp275=) c.340G= (p.Asp114=) c.235G= (p.Asp79=) | |
3 | g.122261858G>T | CA354151432 | CASR | c.823G>T (p.Asp275Tyr) c.340G>T (p.Asp114Tyr) c.235G>T (p.Asp79Tyr) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261859A>C | CA354151433 | CASR | c.824A>C (p.Asp275Ala) c.341A>C (p.Asp114Ala) c.236A>C (p.Asp79Ala) | |
3 | g.122261859A>G | CA354151434 | CASR | c.824A>G (p.Asp275Gly) c.341A>G (p.Asp114Gly) c.236A>G (p.Asp79Gly) | |
3 | g.122261859A>T | CA354151435 | CASR | c.824A>T (p.Asp275Val) c.341A>T (p.Asp114Val) c.236A>T (p.Asp79Val) | |
3 | g.122261860T>A | CA354151436 | CASR | c.825T>A (p.Asp275Glu) c.342T>A (p.Asp114Glu) c.237T>A (p.Asp79Glu) | |
3 | g.122261860T>C | CA2569541 | CASR | c.825T>C (p.Asp275=) c.342T>C (p.Asp114=) c.237T>C (p.Asp79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261860T>G | CA354151437 | CASR | c.825T>G (p.Asp275Glu) c.342T>G (p.Asp114Glu) c.237T>G (p.Asp79Glu) | |
3 | g.122261860T= | CA1397873131 | CASR | c.825T= (p.Asp275=) c.342T= (p.Asp114=) c.237T= (p.Asp79=) | |
3 | g.122261861C>A | CA354151440 | CASR | c.826C>A (p.Leu276Ile) c.343C>A (p.Leu115Ile) c.238C>A (p.Leu80Ile) | ClinVar gnomAD v4 |
3 | g.122261861C>G | CA354151439 | CASR | c.826C>G (p.Leu276Val) c.343C>G (p.Leu115Val) c.238C>G (p.Leu80Val) | |
3 | g.122261861C>T | CA354151438 | CASR | c.826C>T (p.Leu276Phe) c.343C>T (p.Leu115Phe) c.238C>T (p.Leu80Phe) | COSMIC |
3 | g.122261862T>A | CA354151441 | CASR | c.827T>A (p.Leu276His) c.344T>A (p.Leu115His) c.239T>A (p.Leu80His) | |
3 | g.122261862T>C | CA354151443 | CASR | c.827T>C (p.Leu276Pro) c.344T>C (p.Leu115Pro) c.239T>C (p.Leu80Pro) | |
3 | g.122261862T>G | CA354151442 | CASR | c.827T>G (p.Leu276Arg) c.344T>G (p.Leu115Arg) c.239T>G (p.Leu80Arg) | |
3 | g.122261863T>A | CA435424432 | CASR | c.828T>A (p.Leu276=) c.345T>A (p.Leu115=) c.240T>A (p.Leu80=) | |
3 | g.122261863T>C | CA2569542 | CASR | c.828T>C (p.Leu276=) c.345T>C (p.Leu115=) c.240T>C (p.Leu80=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261863T>G | CA435424434 | CASR | c.828T>G (p.Leu276=) c.345T>G (p.Leu115=) c.240T>G (p.Leu80=) | |
3 | g.122261863T= | CA1397873133 | CASR | c.828T= (p.Leu276=) c.345T= (p.Leu115=) c.240T= (p.Leu80=) | |
3 | g.122261864G>A | CA82738571 | CASR | c.829G>A (p.Glu277Lys) c.346G>A (p.Glu116Lys) c.241G>A (p.Glu81Lys) | dbSNP |
3 | g.122261864G>C | CA82738575 | CASR | c.829G>C (p.Glu277Gln) c.346G>C (p.Glu116Gln) c.241G>C (p.Glu81Gln) | ClinVar dbSNP |
3 | g.122261864G= | CA1397873135 | CASR | c.829G= (p.Glu277=) c.346G= (p.Glu116=) c.241G= (p.Glu81=) | |
3 | g.122261864G>T | CA354151444 | CASR | c.829G>T (p.Glu277Ter) c.346G>T (p.Glu116Ter) c.241G>T (p.Glu81Ter) | |
3 | g.122261865A>C | CA354151445 | CASR | c.830A>C (p.Glu277Ala) c.347A>C (p.Glu116Ala) c.242A>C (p.Glu81Ala) | |
3 | g.122261865A>G | CA354151446 | CASR | c.830A>G (p.Glu277Gly) c.347A>G (p.Glu116Gly) c.242A>G (p.Glu81Gly) | |
3 | g.122261865A>T | CA354151447 | CASR | c.830A>T (p.Glu277Val) c.347A>T (p.Glu116Val) c.242A>T (p.Glu81Val) | |
3 | g.122261866G>A | CA435424435 | CASR | c.831G>A (p.Glu277=) c.348G>A (p.Glu116=) c.243G>A (p.Glu81=) | ClinVar dbSNP |
3 | g.122261866G>C | CA354151448 | CASR | c.831G>C (p.Glu277Asp) c.348G>C (p.Glu116Asp) c.243G>C (p.Glu81Asp) | ClinVar |
3 | g.122261866G>T | CA354151449 | CASR | c.831G>T (p.Glu277Asp) c.348G>T (p.Glu116Asp) c.243G>T (p.Glu81Asp) | |
3 | g.122261867C>A | CA354151450 | CASR | c.832C>A (p.Pro278Thr) c.349C>A (p.Pro117Thr) c.244C>A (p.Pro82Thr) | |
3 | g.122261867C= | CA1397873136 | CASR | c.832C= (p.Pro278=) c.349C= (p.Pro117=) c.244C= (p.Pro82=) | |
3 | g.122261867C>G | CA354151451 | CASR | c.832C>G (p.Pro278Ala) c.349C>G (p.Pro117Ala) c.244C>G (p.Pro82Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.122261867C>T | CA354151452 | CASR | c.832C>T (p.Pro278Ser) c.349C>T (p.Pro117Ser) c.244C>T (p.Pro82Ser) | |
3 | g.122261868C>A | CA354151455 | CASR | c.833C>A (p.Pro278His) c.350C>A (p.Pro117His) c.245C>A (p.Pro82His) | |
3 | g.122261868C>G | CA354151453 | CASR | c.833C>G (p.Pro278Arg) c.350C>G (p.Pro117Arg) c.245C>G (p.Pro82Arg) | |
3 | g.122261868C>T | CA354151454 | CASR | c.833C>T (p.Pro278Leu) c.350C>T (p.Pro117Leu) c.245C>T (p.Pro82Leu) | ClinVar COSMIC |
3 | g.122261869C>A | CA435424437 | CASR | c.834C>A (p.Pro278=) c.351C>A (p.Pro117=) c.246C>A (p.Pro82=) | |
3 | g.122261869C>G | CA435424438 | CASR | c.834C>G (p.Pro278=) c.351C>G (p.Pro117=) c.246C>G (p.Pro82=) | |
3 | g.122261869C>T | CA435424439 | CASR | c.834C>T (p.Pro278=) c.351C>T (p.Pro117=) c.246C>T (p.Pro82=) | ClinVar |
3 | g.122261870C>A | CA354151456 | CASR | c.835C>A (p.Leu279Ile) c.352C>A (p.Leu118Ile) c.247C>A (p.Leu83Ile) | |
3 | g.122261870C= | CA1397873137 | CASR | c.835C= (p.Leu279=) c.352C= (p.Leu118=) c.247C= (p.Leu83=) | |
3 | g.122261870C>G | CA2569543 | CASR | c.835C>G (p.Leu279Val) c.352C>G (p.Leu118Val) c.247C>G (p.Leu83Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261870C>T | CA354151457 | CASR | c.835C>T (p.Leu279Phe) c.352C>T (p.Leu118Phe) c.247C>T (p.Leu83Phe) | ClinVar |
3 | g.122261871T>A | CA354151458 | CASR | c.836T>A (p.Leu279His) c.353T>A (p.Leu118His) c.248T>A (p.Leu83His) | |
3 | g.122261871T>C | CA354151459 | CASR | c.836T>C (p.Leu279Pro) c.353T>C (p.Leu118Pro) c.248T>C (p.Leu83Pro) | |
3 | g.122261871T>G | CA354151460 | CASR | c.836T>G (p.Leu279Arg) c.353T>G (p.Leu118Arg) c.248T>G (p.Leu83Arg) | ClinVar dbSNP |
3 | g.122261871T= | CA1397873139 | CASR | c.836T= (p.Leu279=) c.353T= (p.Leu118=) c.248T= (p.Leu83=) | |
3 | g.122261872C>A | CA435424440 | CASR | c.837C>A (p.Leu279=) c.354C>A (p.Leu118=) c.249C>A (p.Leu83=) | |
3 | g.122261872C>G | CA435424441 | CASR | c.837C>G (p.Leu279=) c.354C>G (p.Leu118=) c.249C>G (p.Leu83=) | |
3 | g.122261872C>T | CA435424442 | CASR | c.837C>T (p.Leu279=) c.354C>T (p.Leu118=) c.249C>T (p.Leu83=) | |
3 | g.122261873A>C | CA354151461 | CASR | c.838A>C (p.Ile280Leu) c.355A>C (p.Ile119Leu) c.250A>C (p.Ile84Leu) | |
3 | g.122261873A>G | CA354151462 | CASR | c.838A>G (p.Ile280Val) c.355A>G (p.Ile119Val) c.250A>G (p.Ile84Val) | |
3 | g.122261873A>T | CA354151463 | CASR | c.838A>T (p.Ile280Phe) c.355A>T (p.Ile119Phe) c.250A>T (p.Ile84Phe) | |
3 | g.122261874T>A | CA354151464 | CASR | c.839T>A (p.Ile280Asn) c.356T>A (p.Ile119Asn) c.251T>A (p.Ile84Asn) | ClinVar dbSNP |
3 | g.122261874T>C | CA354151465 | CASR | c.839T>C (p.Ile280Thr) c.356T>C (p.Ile119Thr) c.251T>C (p.Ile84Thr) | |
3 | g.122261874T>G | CA354151466 | CASR | c.839T>G (p.Ile280Ser) c.356T>G (p.Ile119Ser) c.251T>G (p.Ile84Ser) | |
3 | g.122261874T= | CA1397873141 | CASR | c.839T= (p.Ile280=) c.356T= (p.Ile119=) c.251T= (p.Ile84=) | |
3 | g.122261875C>A | CA435424444 | CASR | c.840C>A (p.Ile280=) c.357C>A (p.Ile119=) c.252C>A (p.Ile84=) | |
3 | g.122261875C= | CA1397873143 | CASR | c.840C= (p.Ile280=) c.357C= (p.Ile119=) c.252C= (p.Ile84=) | |
3 | g.122261875C>G | CA354151467 | CASR | c.840C>G (p.Ile280Met) c.357C>G (p.Ile119Met) c.252C>G (p.Ile84Met) | |
3 | g.122261875C>T | CA82738581 | CASR | c.840C>T (p.Ile280=) c.357C>T (p.Ile119=) c.252C>T (p.Ile84=) | ClinVar dbSNP gnomAD v4 |
3 | g.122261876A>C | CA354151468 | CASR | c.841A>C (p.Lys281Gln) c.358A>C (p.Lys120Gln) c.253A>C (p.Lys85Gln) | |
3 | g.122261876A>G | CA354151469 | CASR | c.841A>G (p.Lys281Glu) c.358A>G (p.Lys120Glu) c.253A>G (p.Lys85Glu) | |
3 | g.122261876A>T | CA354151470 | CASR | c.841A>T (p.Lys281Ter) c.358A>T (p.Lys120Ter) c.253A>T (p.Lys85Ter) | |
3 | g.122261877A>C | CA354151471 | CASR | c.842A>C (p.Lys281Thr) c.359A>C (p.Lys120Thr) c.254A>C (p.Lys85Thr) | |
3 | g.122261877A>G | CA354151472 | CASR | c.842A>G (p.Lys281Arg) c.359A>G (p.Lys120Arg) c.254A>G (p.Lys85Arg) | |
3 | g.122261877A>T | CA354151473 | CASR | c.842A>T (p.Lys281Met) c.359A>T (p.Lys120Met) c.254A>T (p.Lys85Met) | |
3 | g.122261878G>A | CA435424447 | CASR | c.843G>A (p.Lys281=) c.360G>A (p.Lys120=) c.255G>A (p.Lys85=) | |
3 | g.122261878G>C | CA354151475 | CASR | c.843G>C (p.Lys281Asn) c.360G>C (p.Lys120Asn) c.255G>C (p.Lys85Asn) | |
3 | g.122261878G>T | CA354151474 | CASR | c.843G>T (p.Lys281Asn) c.360G>T (p.Lys120Asn) c.255G>T (p.Lys85Asn) | |
3 | g.122261879G>A | CA354151476 | CASR | c.844G>A (p.Glu282Lys) c.361G>A (p.Glu121Lys) c.256G>A (p.Glu86Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261879G>C | CA354151477 | CASR | c.844G>C (p.Glu282Gln) c.361G>C (p.Glu121Gln) c.256G>C (p.Glu86Gln) | |
3 | g.122261879G= | CA1397873145 | CASR | c.844G= (p.Glu282=) c.361G= (p.Glu121=) c.256G= (p.Glu86=) | |
3 | g.122261879G>T | CA354151478 | CASR | c.844G>T (p.Glu282Ter) c.361G>T (p.Glu121Ter) c.256G>T (p.Glu86Ter) | |
3 | g.122261880A= | CA1397873147 | CASR | c.845A= (p.Glu282=) c.362A= (p.Glu121=) c.257A= (p.Glu86=) | |
3 | g.122261880A>C | CA354151479 | CASR | c.845A>C (p.Glu282Ala) c.362A>C (p.Glu121Ala) c.257A>C (p.Glu86Ala) | |
3 | g.122261880A>G | CA2569544 | CASR | c.845A>G (p.Glu282Gly) c.362A>G (p.Glu121Gly) c.257A>G (p.Glu86Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261880A>T | CA354151480 | CASR | c.845A>T (p.Glu282Val) c.362A>T (p.Glu121Val) c.257A>T (p.Glu86Val) | |
3 | g.122261881G>A | CA82738589 | CASR | c.846G>A (p.Glu282=) c.363G>A (p.Glu121=) c.258G>A (p.Glu86=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.122261881G>C | CA82738592 | CASR | c.846G>C (p.Glu282Asp) c.363G>C (p.Glu121Asp) c.258G>C (p.Glu86Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.122261881G= | CA1397873150 | CASR | c.846G= (p.Glu282=) c.363G= (p.Glu121=) c.258G= (p.Glu86=) | |
3 | g.122261881G>T | CA354151481 | CASR | c.846G>T (p.Glu282Asp) c.363G>T (p.Glu121Asp) c.258G>T (p.Glu86Asp) | |
3 | g.122261882A>C | CA354151482 | CASR | c.847A>C (p.Ile283Leu) c.364A>C (p.Ile122Leu) c.259A>C (p.Ile87Leu) | |
3 | g.122261882A>G | CA354151483 | CASR | c.847A>G (p.Ile283Val) c.364A>G (p.Ile122Val) c.259A>G (p.Ile87Val) | |
3 | g.122261882A>T | CA354151484 | CASR | c.847A>T (p.Ile283Phe) c.364A>T (p.Ile122Phe) c.259A>T (p.Ile87Phe) | |
3 | g.122261883T>A | CA354151485 | CASR | c.848T>A (p.Ile283Asn) c.365T>A (p.Ile122Asn) c.260T>A (p.Ile87Asn) | |
3 | g.122261883T>C | CA2569545 | CASR | c.848T>C (p.Ile283Thr) c.365T>C (p.Ile122Thr) c.260T>C (p.Ile87Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261883T>G | CA354151486 | CASR | c.848T>G (p.Ile283Ser) c.365T>G (p.Ile122Ser) c.260T>G (p.Ile87Ser) | |
3 | g.122261883T= | CA1397873152 | CASR | c.848T= (p.Ile283=) c.365T= (p.Ile122=) c.260T= (p.Ile87=) | |
3 | g.122261884T>A | CA435424450 | CASR | c.849T>A (p.Ile283=) c.366T>A (p.Ile122=) c.261T>A (p.Ile87=) | ClinVar |
3 | g.122261884T>C | CA435424451 | CASR | c.849T>C (p.Ile283=) c.366T>C (p.Ile122=) c.261T>C (p.Ile87=) | ClinVar dbSNP |
3 | g.122261884T>G | CA354151487 | CASR | c.849T>G (p.Ile283Met) c.366T>G (p.Ile122Met) c.261T>G (p.Ile87Met) | |
3 | g.122261884T= | CA1397873154 | CASR | c.849T= (p.Ile283=) c.366T= (p.Ile122=) c.261T= (p.Ile87=) | |
3 | g.122261885G>A | CA354151488 | CASR | c.850G>A (p.Val284Ile) c.367G>A (p.Val123Ile) c.262G>A (p.Val88Ile) | ClinVar |
3 | g.122261885G>C | CA354151489 | CASR | c.850G>C (p.Val284Leu) c.367G>C (p.Val123Leu) c.262G>C (p.Val88Leu) | |
3 | g.122261885G>T | CA354151490 | CASR | c.850G>T (p.Val284Phe) c.367G>T (p.Val123Phe) c.262G>T (p.Val88Phe) | gnomAD v4 COSMIC |
3 | g.122261886T>A | CA354151493 | CASR | c.851T>A (p.Val284Asp) c.368T>A (p.Val123Asp) c.263T>A (p.Val88Asp) | gnomAD v4 |
3 | g.122261886T>C | CA354151492 | CASR | c.851T>C (p.Val284Ala) c.368T>C (p.Val123Ala) c.263T>C (p.Val88Ala) | ClinVar dbSNP |
3 | g.122261886T>G | CA354151491 | CASR | c.851T>G (p.Val284Gly) c.368T>G (p.Val123Gly) c.263T>G (p.Val88Gly) | |
3 | g.122261886T= | CA1397873157 | CASR | c.851T= (p.Val284=) c.368T= (p.Val123=) c.263T= (p.Val88=) | |
3 | g.122261887C>A | CA435424452 | CASR | c.852C>A (p.Val284=) c.369C>A (p.Val123=) c.264C>A (p.Val88=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261887C= | CA1397873158 | CASR | c.852C= (p.Val284=) c.369C= (p.Val123=) c.264C= (p.Val88=) | |
3 | g.122261887C>G | CA435424454 | CASR | c.852C>G (p.Val284=) c.369C>G (p.Val123=) c.264C>G (p.Val88=) | |
3 | g.122261887C>T | CA435424453 | CASR | c.852C>T (p.Val284=) c.369C>T (p.Val123=) c.264C>T (p.Val88=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261888C>A | CA435424455 | CASR | c.853C>A (p.Arg285=) c.370C>A (p.Arg124=) c.265C>A (p.Arg89=) | COSMIC |
3 | g.122261888C= | CA1397873161 | CASR | c.853C= (p.Arg285=) c.370C= (p.Arg124=) c.265C= (p.Arg89=) | |
3 | g.122261888C>G | CA354151494 | CASR | c.853C>G (p.Arg285Gly) c.370C>G (p.Arg124Gly) c.265C>G (p.Arg89Gly) | |
3 | g.122261888C>T | CA354151495 | CASR | c.853C>T (p.Arg285Trp) c.370C>T (p.Arg124Trp) c.265C>T (p.Arg89Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.122261889G>A | CA10582120 | CASR | c.854G>A (p.Arg285Gln) c.371G>A (p.Arg124Gln) c.266G>A (p.Arg89Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261889G>C | CA2569546 | CASR | c.854G>C (p.Arg285Pro) c.371G>C (p.Arg124Pro) c.266G>C (p.Arg89Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.122261889G= | CA1397873162 | CASR | c.854G= (p.Arg285=) c.371G= (p.Arg124=) c.266G= (p.Arg89=) | |
3 | g.122261889G>T | CA354151496 | CASR | c.854G>T (p.Arg285Leu) c.371G>T (p.Arg124Leu) c.266G>T (p.Arg89Leu) | gnomAD v4 |
3 | g.122261890G>A | CA435424457 | CASR | c.855G>A (p.Arg285=) c.372G>A (p.Arg124=) c.267G>A (p.Arg89=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.122261890G>C | CA435424458 | CASR | c.855G>C (p.Arg285=) c.372G>C (p.Arg124=) c.267G>C (p.Arg89=) | |
3 | g.122261890G= | CA1397873164 | CASR | c.855G= (p.Arg285=) c.372G= (p.Arg124=) c.267G= (p.Arg89=) | |
3 | g.122261890G>T | CA435424459 | CASR | c.855G>T (p.Arg285=) c.372G>T (p.Arg124=) c.267G>T (p.Arg89=) | ClinVar dbSNP |
3 | g.122261891C>A | CA354151497 | CASR | c.856C>A (p.Arg286Ser) c.373C>A (p.Arg125Ser) c.268C>A (p.Arg90Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.122261891C= | CA1397873166 | CASR | c.856C= (p.Arg286=) c.373C= (p.Arg125=) c.268C= (p.Arg90=) | |
3 | g.122261891C>G | CA354151498 | CASR | c.856C>G (p.Arg286Gly) c.373C>G (p.Arg125Gly) c.268C>G (p.Arg90Gly) | |
3 | g.122261891C>T | CA16611296 | CASR | c.856C>T (p.Arg286Cys) c.373C>T (p.Arg125Cys) c.268C>T (p.Arg90Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122261892G>A | CA82738600 | CASR | c.857G>A (p.Arg286His) c.374G>A (p.Arg125His) c.269G>A (p.Arg90His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261892G>C | CA354151500 | CASR | c.857G>C (p.Arg286Pro) c.374G>C (p.Arg125Pro) c.269G>C (p.Arg90Pro) | ClinVar dbSNP |
3 | g.122261892G= | CA1397873169 | CASR | c.857G= (p.Arg286=) c.374G= (p.Arg125=) c.269G= (p.Arg90=) | |
3 | g.122261892G>T | CA354151499 | CASR | c.857G>T (p.Arg286Leu) c.374G>T (p.Arg125Leu) c.269G>T (p.Arg90Leu) | |
3 | g.122261893C>A | CA435424483 | CASR | c.858C>A (p.Arg286=) c.375C>A (p.Arg125=) c.270C>A (p.Arg90=) | |
3 | g.122261893C>G | CA435424484 | CASR | c.858C>G (p.Arg286=) c.375C>G (p.Arg125=) c.270C>G (p.Arg90=) | |
3 | g.122261893C>T | CA435424485 | CASR | c.858C>T (p.Arg286=) c.375C>T (p.Arg125=) c.270C>T (p.Arg90=) | ClinVar dbSNP |
3 | g.122261894A>C | CA354151501 | CASR | c.859A>C (p.Asn287His) c.376A>C (p.Asn126His) c.271A>C (p.Asn91His) | ClinVar dbSNP |
3 | g.122261894A>G | CA354151503 | CASR | c.859A>G (p.Asn287Asp) c.376A>G (p.Asn126Asp) c.271A>G (p.Asn91Asp) | |
3 | g.122261894A>T | CA354151502 | CASR | c.859A>T (p.Asn287Tyr) c.376A>T (p.Asn126Tyr) c.271A>T (p.Asn91Tyr) | |
3 | g.122261895A= | CA1397873172 | CASR | c.860A= (p.Asn287=) c.377A= (p.Asn126=) c.272A= (p.Asn91=) | |
3 | g.122261895A>C | CA354151504 | CASR | c.860A>C (p.Asn287Thr) c.377A>C (p.Asn126Thr) c.272A>C (p.Asn91Thr) | |
3 | g.122261895A>G | CA354151506 | CASR | c.860A>G (p.Asn287Ser) c.377A>G (p.Asn126Ser) c.272A>G (p.Asn91Ser) | ClinVar dbSNP |
3 | g.122261895A>T | CA354151505 | CASR | c.860A>T (p.Asn287Ile) c.377A>T (p.Asn126Ile) c.272A>T (p.Asn91Ile) | |
3 | g.122261896T>A | CA354151507 | CASR | c.861T>A (p.Asn287Lys) c.378T>A (p.Asn126Lys) c.273T>A (p.Asn91Lys) | |
3 | g.122261896T>C | CA2569547 | CASR | c.861T>C (p.Asn287=) c.378T>C (p.Asn126=) c.273T>C (p.Asn91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.122261896T>G | CA354151508 | CASR | c.861T>G (p.Asn287Lys) c.378T>G (p.Asn126Lys) c.273T>G (p.Asn91Lys) | |
3 | g.122261896T= | CA1397873173 | CASR | c.861T= (p.Asn287=) c.378T= (p.Asn126=) c.273T= (p.Asn91=) |