OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.59654264A>C | CA377064407 | SLC16A9 | c.762T>G (p.His254Gln) c.501T>G (p.His167Gln) | |
| 10 | g.59654264A>G | CA470000969 | SLC16A9 | c.762T>C (p.His254=) c.501T>C (p.His167=) | gnomAD v4 |
| 10 | g.59654264A>T | CA377064408 | SLC16A9 | c.762T>A (p.His254Gln) c.501T>A (p.His167Gln) | |
| 10 | g.59654265T>A | CA377064409 | SLC16A9 | c.761A>T (p.His254Leu) c.500A>T (p.His167Leu) | |
| 10 | g.59654265T>C | CA377064410 | SLC16A9 | c.761A>G (p.His254Arg) c.500A>G (p.His167Arg) | |
| 10 | g.59654265T>G | CA377064411 | SLC16A9 | c.761A>C (p.His254Pro) c.500A>C (p.His167Pro) | |
| 10 | g.59654266G>A | CA377064412 | SLC16A9 | c.760C>T (p.His254Tyr) c.499C>T (p.His167Tyr) | COSMIC |
| 10 | g.59654266G>C | CA377064413 | SLC16A9 | c.760C>G (p.His254Asp) c.499C>G (p.His167Asp) | |
| 10 | g.59654266G>T | CA377064414 | SLC16A9 | c.760C>A (p.His254Asn) c.499C>A (p.His167Asn) | |
| 10 | g.59654267A>C | CA470000974 | SLC16A9 | c.759T>G (p.Leu253=) c.498T>G (p.Leu166=) | |
| 10 | g.59654267A>G | CA470000975 | SLC16A9 | c.759T>C (p.Leu253=) c.498T>C (p.Leu166=) | |
| 10 | g.59654267A>T | CA470000976 | SLC16A9 | c.759T>A (p.Leu253=) c.498T>A (p.Leu166=) | |
| 10 | g.59654268A= | CA1913561211 | SLC16A9 | c.758T= (p.Leu253=) c.497T= (p.Leu166=) | |
| 10 | g.59654268A>C | CA377064415 | SLC16A9 | c.758T>G (p.Leu253Arg) c.497T>G (p.Leu166Arg) | |
| 10 | g.59654268A>G | CA377064416 | SLC16A9 | c.758T>C (p.Leu253Pro) c.497T>C (p.Leu166Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.59654268A>T | CA377064417 | SLC16A9 | c.758T>A (p.Leu253His) c.497T>A (p.Leu166His) | COSMIC |
| 10 | g.59654269G>A | CA377064418 | SLC16A9 | c.757C>T (p.Leu253Phe) c.496C>T (p.Leu166Phe) | dbSNP gnomAD v4 |
| 10 | g.59654269G>C | CA377064419 | SLC16A9 | c.757C>G (p.Leu253Val) c.496C>G (p.Leu166Val) | |
| 10 | g.59654269G= | CA1913561213 | SLC16A9 | c.757C= (p.Leu253=) c.496C= (p.Leu166=) | |
| 10 | g.59654269G>T | CA377064420 | SLC16A9 | c.757C>A (p.Leu253Ile) c.496C>A (p.Leu166Ile) | |
| 10 | g.59654270T>A | CA470000980 | SLC16A9 | c.756A>T (p.Leu252=) c.495A>T (p.Leu165=) | |
| 10 | g.59654270T>C | CA470000981 | SLC16A9 | c.756A>G (p.Leu252=) c.495A>G (p.Leu165=) | |
| 10 | g.59654270T>G | CA470000983 | SLC16A9 | c.756A>C (p.Leu252=) c.495A>C (p.Leu165=) | |
| 10 | g.59654271A>C | CA377064423 | SLC16A9 | c.755T>G (p.Leu252Arg) c.494T>G (p.Leu165Arg) | |
| 10 | g.59654271A>G | CA377064422 | SLC16A9 | c.755T>C (p.Leu252Pro) c.494T>C (p.Leu165Pro) | |
| 10 | g.59654271A>T | CA377064421 | SLC16A9 | c.755T>A (p.Leu252Gln) c.494T>A (p.Leu165Gln) | |
| 10 | g.59654272G>A | CA470000985 | SLC16A9 | c.754C>T (p.Leu252=) c.493C>T (p.Leu165=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654272G>C | CA377064424 | SLC16A9 | c.754C>G (p.Leu252Val) c.493C>G (p.Leu165Val) | |
| 10 | g.59654272G= | CA1913561221 | SLC16A9 | c.754C= (p.Leu252=) c.493C= (p.Leu165=) | |
| 10 | g.59654272G>T | CA377064425 | SLC16A9 | c.754C>A (p.Leu252Ile) c.493C>A (p.Leu165Ile) | |
| 10 | g.59654273G>A | CA470000987 | SLC16A9 | c.753C>T (p.Ser251=) c.492C>T (p.Ser164=) | |
| 10 | g.59654273G>C | CA377064426 | SLC16A9 | c.753C>G (p.Ser251Arg) c.492C>G (p.Ser164Arg) | |
| 10 | g.59654273G>T | CA377064427 | SLC16A9 | c.753C>A (p.Ser251Arg) c.492C>A (p.Ser164Arg) | gnomAD v4 |
| 10 | g.59654274C>A | CA377064428 | SLC16A9 | c.752G>T (p.Ser251Ile) c.491G>T (p.Ser164Ile) | |
| 10 | g.59654274C>G | CA377064429 | SLC16A9 | c.752G>C (p.Ser251Thr) c.491G>C (p.Ser164Thr) | |
| 10 | g.59654274C>T | CA377064430 | SLC16A9 | c.752G>A (p.Ser251Asn) c.491G>A (p.Ser164Asn) | |
| 10 | g.59654275T>A | CA377064431 | SLC16A9 | c.751A>T (p.Ser251Cys) c.490A>T (p.Ser164Cys) | |
| 10 | g.59654275T>C | CA377064432 | SLC16A9 | c.751A>G (p.Ser251Gly) c.490A>G (p.Ser164Gly) | gnomAD v4 |
| 10 | g.59654275T>G | CA377064433 | SLC16A9 | c.751A>C (p.Ser251Arg) c.490A>C (p.Ser164Arg) | |
| 10 | g.59654276G>A | CA470000991 | SLC16A9 | c.750C>T (p.Asp250=) c.489C>T (p.Asp163=) | |
| 10 | g.59654276G>C | CA208153602 | SLC16A9 | c.750C>G (p.Asp250Glu) c.489C>G (p.Asp163Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654276G= | CA1913561241 | SLC16A9 | c.750C= (p.Asp250=) c.489C= (p.Asp163=) | |
| 10 | g.59654276G>T | CA377064434 | SLC16A9 | c.750C>A (p.Asp250Glu) c.489C>A (p.Asp163Glu) | |
| 10 | g.59654276_59654277delinsGT | CA1913561239 | SLC16A9 | c.749_750delinsAC (p.Asp250=) c.488_489delinsAC (p.Asp163=) | |
| 10 | g.59654277del | CA208153603 | SLC16A9 | c.749del (p.Asp250AlafsTer10) c.488del (p.Asp163AlafsTer10) | dbSNP gnomAD v4 |
| 10 | g.59654277T>A | CA377064436 | SLC16A9 | c.749A>T (p.Asp250Val) c.488A>T (p.Asp163Val) | |
| 10 | g.59654277T>C | CA377064435 | SLC16A9 | c.749A>G (p.Asp250Gly) c.488A>G (p.Asp163Gly) | |
| 10 | g.59654277T>G | CA377064437 | SLC16A9 | c.749A>C (p.Asp250Ala) c.488A>C (p.Asp163Ala) | |
| 10 | g.59654278C>A | CA377064438 | SLC16A9 | c.748G>T (p.Asp250Tyr) c.487G>T (p.Asp163Tyr) | |
| 10 | g.59654278C>G | CA377064439 | SLC16A9 | c.748G>C (p.Asp250His) c.487G>C (p.Asp163His) | |
| 10 | g.59654278C>T | CA377064440 | SLC16A9 | c.748G>A (p.Asp250Asn) c.487G>A (p.Asp163Asn) | gnomAD v4 |
| 10 | g.59654279T>A | CA377064441 | SLC16A9 | c.747A>T (p.Gln249His) c.486A>T (p.Gln162His) | |
| 10 | g.59654279T>C | CA470000998 | SLC16A9 | c.747A>G (p.Gln249=) c.486A>G (p.Gln162=) | |
| 10 | g.59654279T>G | CA377064442 | SLC16A9 | c.747A>C (p.Gln249His) c.486A>C (p.Gln162His) | |
| 10 | g.59654280T>A | CA377064444 | SLC16A9 | c.746A>T (p.Gln249Leu) c.485A>T (p.Gln162Leu) | |
| 10 | g.59654280T>C | CA5509951 | SLC16A9 | c.746A>G (p.Gln249Arg) c.485A>G (p.Gln162Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654280T>G | CA377064443 | SLC16A9 | c.746A>C (p.Gln249Pro) c.485A>C (p.Gln162Pro) | |
| 10 | g.59654280T= | CA1913561248 | SLC16A9 | c.746A= (p.Gln249=) c.485A= (p.Gln162=) | |
| 10 | g.59654281G>A | CA377064445 | SLC16A9 | c.745C>T (p.Gln249Ter) c.484C>T (p.Gln162Ter) | dbSNP gnomAD v4 |
| 10 | g.59654281G>C | CA377064446 | SLC16A9 | c.745C>G (p.Gln249Glu) c.484C>G (p.Gln162Glu) | |
| 10 | g.59654281G= | CA1913561253 | SLC16A9 | c.745C= (p.Gln249=) c.484C= (p.Gln162=) | |
| 10 | g.59654281G>T | CA377064447 | SLC16A9 | c.745C>A (p.Gln249Lys) c.484C>A (p.Gln162Lys) | dbSNP gnomAD v4 |
| 10 | g.59654282T>A | CA5509952 | SLC16A9 | c.744A>T (p.Lys248Asn) c.483A>T (p.Lys161Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654282T>C | CA470001003 | SLC16A9 | c.744A>G (p.Lys248=) c.483A>G (p.Lys161=) | |
| 10 | g.59654282T>G | CA377064448 | SLC16A9 | c.744A>C (p.Lys248Asn) c.483A>C (p.Lys161Asn) | |
| 10 | g.59654282T= | CA1913561257 | SLC16A9 | c.744A= (p.Lys248=) c.483A= (p.Lys161=) | |
| 10 | g.59654283T>A | CA377064449 | SLC16A9 | c.743A>T (p.Lys248Ile) c.482A>T (p.Lys161Ile) | |
| 10 | g.59654283T>C | CA377064451 | SLC16A9 | c.743A>G (p.Lys248Arg) c.482A>G (p.Lys161Arg) | gnomAD v4 |
| 10 | g.59654283T>G | CA377064450 | SLC16A9 | c.743A>C (p.Lys248Thr) c.482A>C (p.Lys161Thr) | |
| 10 | g.59654284T>A | CA377064452 | SLC16A9 | c.742A>T (p.Lys248Ter) c.481A>T (p.Lys161Ter) | |
| 10 | g.59654284T>C | CA377064453 | SLC16A9 | c.742A>G (p.Lys248Glu) c.481A>G (p.Lys161Glu) | |
| 10 | g.59654284T>G | CA377064454 | SLC16A9 | c.742A>C (p.Lys248Gln) c.481A>C (p.Lys161Gln) | |
| 10 | g.59654285C>A | CA377064455 | SLC16A9 | c.741G>T (p.Trp247Cys) c.480G>T (p.Trp160Cys) | |
| 10 | g.59654285C>G | CA377064456 | SLC16A9 | c.741G>C (p.Trp247Cys) c.480G>C (p.Trp160Cys) | |
| 10 | g.59654285C>T | CA377064457 | SLC16A9 | c.741G>A (p.Trp247Ter) c.480G>A (p.Trp160Ter) | gnomAD v4 |
| 10 | g.59654286C>A | CA377064458 | SLC16A9 | c.740G>T (p.Trp247Leu) c.479G>T (p.Trp160Leu) | |
| 10 | g.59654286C>G | CA377064459 | SLC16A9 | c.740G>C (p.Trp247Ser) c.479G>C (p.Trp160Ser) | |
| 10 | g.59654286C>T | CA377064460 | SLC16A9 | c.740G>A (p.Trp247Ter) c.479G>A (p.Trp160Ter) | |
| 10 | g.59654287A= | CA1913561270 | SLC16A9 | c.739T= (p.Trp247=) c.478T= (p.Trp160=) | |
| 10 | g.59654287A>C | CA377064461 | SLC16A9 | c.739T>G (p.Trp247Gly) c.478T>G (p.Trp160Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654287A>G | CA377064462 | SLC16A9 | c.739T>C (p.Trp247Arg) c.478T>C (p.Trp160Arg) | |
| 10 | g.59654287A>T | CA377064463 | SLC16A9 | c.739T>A (p.Trp247Arg) c.478T>A (p.Trp160Arg) | |
| 10 | g.59654288G>A | CA470001007 | SLC16A9 | c.738C>T (p.Asp246=) c.477C>T (p.Asp159=) | |
| 10 | g.59654288G>C | CA377064464 | SLC16A9 | c.738C>G (p.Asp246Glu) c.477C>G (p.Asp159Glu) | |
| 10 | g.59654288G>T | CA377064465 | SLC16A9 | c.738C>A (p.Asp246Glu) c.477C>A (p.Asp159Glu) | |
| 10 | g.59654289T>A | CA377064466 | SLC16A9 | c.737A>T (p.Asp246Val) c.476A>T (p.Asp159Val) | |
| 10 | g.59654289T>C | CA377064468 | SLC16A9 | c.737A>G (p.Asp246Gly) c.476A>G (p.Asp159Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.59654289T>G | CA377064467 | SLC16A9 | c.737A>C (p.Asp246Ala) c.476A>C (p.Asp159Ala) | |
| 10 | g.59654289T= | CA1913561275 | SLC16A9 | c.737A= (p.Asp246=) c.476A= (p.Asp159=) | |
| 10 | g.59654290C>A | CA377064469 | SLC16A9 | c.736G>T (p.Asp246Tyr) c.475G>T (p.Asp159Tyr) | gnomAD v4 |
| 10 | g.59654290C= | CA1913561282 | SLC16A9 | c.736G= (p.Asp246=) c.475G= (p.Asp159=) | |
| 10 | g.59654290C>G | CA377064471 | SLC16A9 | c.736G>C (p.Asp246His) c.475G>C (p.Asp159His) | |
| 10 | g.59654290C>T | CA377064470 | SLC16A9 | c.736G>A (p.Asp246Asn) c.475G>A (p.Asp159Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654291A= | CA1913561287 | SLC16A9 | c.735T= (p.Gly245=) c.474T= (p.Gly158=) | |
| 10 | g.59654291A>C | CA470001009 | SLC16A9 | c.735T>G (p.Gly245=) c.474T>G (p.Gly158=) | |
| 10 | g.59654291A>G | CA470001013 | SLC16A9 | c.735T>C (p.Gly245=) c.474T>C (p.Gly158=) | dbSNP |
| 10 | g.59654291A>T | CA470001010 | SLC16A9 | c.735T>A (p.Gly245=) c.474T>A (p.Gly158=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654292C>A | CA377064472 | SLC16A9 | c.734G>T (p.Gly245Val) c.473G>T (p.Gly158Val) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654292C= | CA1913561292 | SLC16A9 | c.734G= (p.Gly245=) c.473G= (p.Gly158=) | |
| 10 | g.59654292C>G | CA377064474 | SLC16A9 | c.734G>C (p.Gly245Ala) c.473G>C (p.Gly158Ala) | |
| 10 | g.59654292C>T | CA377064473 | SLC16A9 | c.734G>A (p.Gly245Asp) c.473G>A (p.Gly158Asp) | |
| 10 | g.59654293C>A | CA377064475 | SLC16A9 | c.733G>T (p.Gly245Cys) c.472G>T (p.Gly158Cys) | gnomAD v4 |
| 10 | g.59654293C>G | CA377064476 | SLC16A9 | c.733G>C (p.Gly245Arg) c.472G>C (p.Gly158Arg) | |
| 10 | g.59654293C>T | CA377064477 | SLC16A9 | c.733G>A (p.Gly245Ser) c.472G>A (p.Gly158Ser) | |
| 10 | g.59654294A>C | CA377064478 | SLC16A9 | c.732T>G (p.Asn244Lys) c.471T>G (p.Asn157Lys) | |
| 10 | g.59654294A>G | CA470001018 | SLC16A9 | c.732T>C (p.Asn244=) c.471T>C (p.Asn157=) | gnomAD v4 |
| 10 | g.59654294A>T | CA377064479 | SLC16A9 | c.732T>A (p.Asn244Lys) c.471T>A (p.Asn157Lys) | |
| 10 | g.59654295T>A | CA377064480 | SLC16A9 | c.731A>T (p.Asn244Ile) c.470A>T (p.Asn157Ile) | |
| 10 | g.59654295T>C | CA5509953 | SLC16A9 | c.731A>G (p.Asn244Ser) c.470A>G (p.Asn157Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654295T>G | CA377064481 | SLC16A9 | c.731A>C (p.Asn244Thr) c.470A>C (p.Asn157Thr) | |
| 10 | g.59654295T= | CA1913561297 | SLC16A9 | c.731A= (p.Asn244=) c.470A= (p.Asn157=) | |
| 10 | g.59654296T>A | CA377064482 | SLC16A9 | c.730A>T (p.Asn244Tyr) c.469A>T (p.Asn157Tyr) | |
| 10 | g.59654296T>C | CA377064483 | SLC16A9 | c.730A>G (p.Asn244Asp) c.469A>G (p.Asn157Asp) | gnomAD v4 |
| 10 | g.59654296T>G | CA5509954 | SLC16A9 | c.730A>C (p.Asn244His) c.469A>C (p.Asn157His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654296T= | CA1913561302 | SLC16A9 | c.730A= (p.Asn244=) c.469A= (p.Asn157=) | |
| 10 | g.59654297G>A | CA470001038 | SLC16A9 | c.729C>T (p.Ala243=) c.468C>T (p.Ala156=) | |
| 10 | g.59654297G>C | CA470001039 | SLC16A9 | c.729C>G (p.Ala243=) c.468C>G (p.Ala156=) | |
| 10 | g.59654297G>T | CA470001040 | SLC16A9 | c.729C>A (p.Ala243=) c.468C>A (p.Ala156=) | |
| 10 | g.59654298G>A | CA377064486 | SLC16A9 | c.728C>T (p.Ala243Val) c.467C>T (p.Ala156Val) | gnomAD v4 |
| 10 | g.59654298G>C | CA377064484 | SLC16A9 | c.728C>G (p.Ala243Gly) c.467C>G (p.Ala156Gly) | |
| 10 | g.59654298G>T | CA377064485 | SLC16A9 | c.728C>A (p.Ala243Asp) c.467C>A (p.Ala156Asp) | |
| 10 | g.59654299C>A | CA377064487 | SLC16A9 | c.727G>T (p.Ala243Ser) c.466G>T (p.Ala156Ser) | |
| 10 | g.59654299C= | CA1913561306 | SLC16A9 | c.727G= (p.Ala243=) c.466G= (p.Ala156=) | |
| 10 | g.59654299C>G | CA377064488 | SLC16A9 | c.727G>C (p.Ala243Pro) c.466G>C (p.Ala156Pro) | |
| 10 | g.59654299C>T | CA5509955 | SLC16A9 | c.727G>A (p.Ala243Thr) c.466G>A (p.Ala156Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654300T>A | CA377064489 | SLC16A9 | c.726A>T (p.Leu242Phe) c.465A>T (p.Leu155Phe) | |
| 10 | g.59654300T>C | CA470001041 | SLC16A9 | c.726A>G (p.Leu242=) c.465A>G (p.Leu155=) | gnomAD v4 |
| 10 | g.59654300T>G | CA377064490 | SLC16A9 | c.726A>C (p.Leu242Phe) c.465A>C (p.Leu155Phe) | |
| 10 | g.59654301A>C | CA377064491 | SLC16A9 | c.725T>G (p.Leu242Ter) c.464T>G (p.Leu155Ter) | |
| 10 | g.59654301A>G | CA377064492 | SLC16A9 | c.725T>C (p.Leu242Ser) c.464T>C (p.Leu155Ser) | |
| 10 | g.59654301A>T | CA377064493 | SLC16A9 | c.725T>A (p.Leu242Ter) c.464T>A (p.Leu155Ter) | |
| 10 | g.59654302A>C | CA377064494 | SLC16A9 | c.724T>G (p.Leu242Val) c.463T>G (p.Leu155Val) | |
| 10 | g.59654302A>G | CA470001042 | SLC16A9 | c.724T>C (p.Leu242=) c.463T>C (p.Leu155=) | |
| 10 | g.59654302A>T | CA377064495 | SLC16A9 | c.724T>A (p.Leu242Ile) c.463T>A (p.Leu155Ile) | |
| 10 | g.59654303C>A | CA470001043 | SLC16A9 | c.723G>T (p.Thr241=) c.462G>T (p.Thr154=) | |
| 10 | g.59654303C= | CA1913561319 | SLC16A9 | c.723G= (p.Thr241=) c.462G= (p.Thr154=) | |
| 10 | g.59654303C>G | CA470001044 | SLC16A9 | c.723G>C (p.Thr241=) c.462G>C (p.Thr154=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.59654303C>T | CA470001045 | SLC16A9 | c.723G>A (p.Thr241=) c.462G>A (p.Thr154=) | gnomAD v4 |
| 10 | g.59654304G>A | CA5509956 | SLC16A9 | c.722C>T (p.Thr241Met) c.461C>T (p.Thr154Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654304G>C | CA377064497 | SLC16A9 | c.722C>G (p.Thr241Arg) c.461C>G (p.Thr154Arg) | |
| 10 | g.59654304G= | CA1913561326 | SLC16A9 | c.722C= (p.Thr241=) c.461C= (p.Thr154=) | |
| 10 | g.59654304G>T | CA377064496 | SLC16A9 | c.722C>A (p.Thr241Lys) c.461C>A (p.Thr154Lys) | COSMIC |
| 10 | g.59654305T>A | CA377064498 | SLC16A9 | c.721A>T (p.Thr241Ser) c.460A>T (p.Thr154Ser) | |
| 10 | g.59654305T>C | CA377064499 | SLC16A9 | c.721A>G (p.Thr241Ala) c.460A>G (p.Thr154Ala) | |
| 10 | g.59654305T>G | CA377064500 | SLC16A9 | c.721A>C (p.Thr241Pro) c.460A>C (p.Thr154Pro) | |
| 10 | g.59654306G>A | CA470001047 | SLC16A9 | c.720C>T (p.Ile240=) c.459C>T (p.Ile153=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.59654306G>C | CA377064501 | SLC16A9 | c.720C>G (p.Ile240Met) c.459C>G (p.Ile153Met) | |
| 10 | g.59654306G= | CA1913561334 | SLC16A9 | c.720C= (p.Ile240=) c.459C= (p.Ile153=) | |
| 10 | g.59654306G>T | CA470001046 | SLC16A9 | c.720C>A (p.Ile240=) c.459C>A (p.Ile153=) | |
| 10 | g.59654307A>C | CA377064502 | SLC16A9 | c.719T>G (p.Ile240Ser) c.458T>G (p.Ile153Ser) | |
| 10 | g.59654307A>G | CA377064503 | SLC16A9 | c.719T>C (p.Ile240Thr) c.458T>C (p.Ile153Thr) | |
| 10 | g.59654307A>T | CA377064504 | SLC16A9 | c.719T>A (p.Ile240Asn) c.458T>A (p.Ile153Asn) | |
| 10 | g.59654308T>A | CA377064505 | SLC16A9 | c.718A>T (p.Ile240Phe) c.457A>T (p.Ile153Phe) | |
| 10 | g.59654308T>C | CA377064506 | SLC16A9 | c.718A>G (p.Ile240Val) c.457A>G (p.Ile153Val) | |
| 10 | g.59654308T>G | CA377064507 | SLC16A9 | c.718A>C (p.Ile240Leu) c.457A>C (p.Ile153Leu) | |
| 10 | g.59654309C>A | CA377064508 | SLC16A9 | c.717G>T (p.Arg239Ser) c.456G>T (p.Arg152Ser) | |
| 10 | g.59654309C>G | CA377064509 | SLC16A9 | c.717G>C (p.Arg239Ser) c.456G>C (p.Arg152Ser) | |
| 10 | g.59654309C>T | CA470001048 | SLC16A9 | c.717G>A (p.Arg239=) c.456G>A (p.Arg152=) | COSMIC |
| 10 | g.59654310C>A | CA377064512 | SLC16A9 | c.716G>T (p.Arg239Met) c.455G>T (p.Arg152Met) | |
| 10 | g.59654310C>G | CA377064510 | SLC16A9 | c.716G>C (p.Arg239Thr) c.455G>C (p.Arg152Thr) | |
| 10 | g.59654310C>T | CA377064511 | SLC16A9 | c.716G>A (p.Arg239Lys) c.455G>A (p.Arg152Lys) | gnomAD v4 |
| 10 | g.59654311T>A | CA377064513 | SLC16A9 | c.715A>T (p.Arg239Trp) c.454A>T (p.Arg152Trp) | |
| 10 | g.59654311T>C | CA377064514 | SLC16A9 | c.715A>G (p.Arg239Gly) c.454A>G (p.Arg152Gly) | |
| 10 | g.59654311T>G | CA470001049 | SLC16A9 | c.715A>C (p.Arg239=) c.454A>C (p.Arg152=) | |
| 10 | g.59654312G>A | CA470001050 | SLC16A9 | c.714C>T (p.Cys238=) c.453C>T (p.Cys151=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654312G>C | CA377064515 | SLC16A9 | c.714C>G (p.Cys238Trp) c.453C>G (p.Cys151Trp) | |
| 10 | g.59654312G= | CA1913561339 | SLC16A9 | c.714C= (p.Cys238=) c.453C= (p.Cys151=) | |
| 10 | g.59654312G>T | CA377064516 | SLC16A9 | c.714C>A (p.Cys238Ter) c.453C>A (p.Cys151Ter) | |
| 10 | g.59654313C>A | CA377064517 | SLC16A9 | c.713G>T (p.Cys238Phe) c.452G>T (p.Cys151Phe) | |
| 10 | g.59654313C>G | CA377064518 | SLC16A9 | c.713G>C (p.Cys238Ser) c.452G>C (p.Cys151Ser) | |
| 10 | g.59654313C>T | CA377064519 | SLC16A9 | c.713G>A (p.Cys238Tyr) c.452G>A (p.Cys151Tyr) | gnomAD v4 |
| 10 | g.59654314A= | CA1913561342 | SLC16A9 | c.712T= (p.Cys238=) c.451T= (p.Cys151=) | |
| 10 | g.59654314A>C | CA377064520 | SLC16A9 | c.712T>G (p.Cys238Gly) c.451T>G (p.Cys151Gly) | |
| 10 | g.59654314A>G | CA208153604 | SLC16A9 | c.712T>C (p.Cys238Arg) c.451T>C (p.Cys151Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.59654314A>T | CA377064521 | SLC16A9 | c.712T>A (p.Cys238Ser) c.451T>A (p.Cys151Ser) | |
| 10 | g.59654315T>A | CA377064522 | SLC16A9 | c.711A>T (p.Lys237Asn) c.450A>T (p.Lys150Asn) | |
| 10 | g.59654315T>C | CA470001051 | SLC16A9 | c.711A>G (p.Lys237=) c.450A>G (p.Lys150=) | |
| 10 | g.59654315T>G | CA377064523 | SLC16A9 | c.711A>C (p.Lys237Asn) c.450A>C (p.Lys150Asn) | |
| 10 | g.59654316T>A | CA5509957 | SLC16A9 | c.710A>T (p.Lys237Ile) c.449A>T (p.Lys150Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.59654316T>C | CA377064525 | SLC16A9 | c.710A>G (p.Lys237Arg) c.449A>G (p.Lys150Arg) | |
| 10 | g.59654316T>G | CA377064524 | SLC16A9 | c.710A>C (p.Lys237Thr) c.449A>C (p.Lys150Thr) | |
| 10 | g.59654316T= | CA1913561346 | SLC16A9 | c.710A= (p.Lys237=) c.449A= (p.Lys150=) | |
| 10 | g.59654317T>A | CA377064526 | SLC16A9 | c.709A>T (p.Lys237Ter) c.448A>T (p.Lys150Ter) | |
| 10 | g.59654317T>C | CA377064527 | SLC16A9 | c.709A>G (p.Lys237Glu) c.448A>G (p.Lys150Glu) | gnomAD v4 |
| 10 | g.59654317T>G | CA377064528 | SLC16A9 | c.709A>C (p.Lys237Gln) c.448A>C (p.Lys150Gln) | gnomAD v4 |
| 10 | g.59654318T>A | CA377064529 | SLC16A9 | c.708A>T (p.Glu236Asp) c.447A>T (p.Glu149Asp) | |
| 10 | g.59654318T>C | CA470001052 | SLC16A9 | c.708A>G (p.Glu236=) c.447A>G (p.Glu149=) | |
| 10 | g.59654318T>G | CA208153605 | SLC16A9 | c.708A>C (p.Glu236Asp) c.447A>C (p.Glu149Asp) | dbSNP COSMIC |
| 10 | g.59654318T= | CA1913561351 | SLC16A9 | c.708A= (p.Glu236=) c.447A= (p.Glu149=) | |
| 10 | g.59654319T>A | CA377064530 | SLC16A9 | c.707A>T (p.Glu236Val) c.446A>T (p.Glu149Val) | |
| 10 | g.59654319T>C | CA377064531 | SLC16A9 | c.707A>G (p.Glu236Gly) c.446A>G (p.Glu149Gly) | dbSNP |
| 10 | g.59654319T>G | CA377064532 | SLC16A9 | c.707A>C (p.Glu236Ala) c.446A>C (p.Glu149Ala) | |
| 10 | g.59654319T= | CA1913561357 | SLC16A9 | c.707A= (p.Glu236=) c.446A= (p.Glu149=) | |
| 10 | g.59654320C>A | CA377064533 | SLC16A9 | c.706G>T (p.Glu236Ter) c.445G>T (p.Glu149Ter) | |
| 10 | g.59654320C>G | CA377064534 | SLC16A9 | c.706G>C (p.Glu236Gln) c.445G>C (p.Glu149Gln) | |
| 10 | g.59654320C>T | CA377064535 | SLC16A9 | c.706G>A (p.Glu236Lys) c.445G>A (p.Glu149Lys) | |
| 10 | g.59654321C>A | CA377064536 | SLC16A9 | c.705G>T (p.Glu235Asp) c.444G>T (p.Glu148Asp) | |
| 10 | g.59654321C>G | CA377064537 | SLC16A9 | c.705G>C (p.Glu235Asp) c.444G>C (p.Glu148Asp) | |
| 10 | g.59654321C>T | CA470001053 | SLC16A9 | c.705G>A (p.Glu235=) c.444G>A (p.Glu148=) | |
| 10 | g.59654322T>A | CA377064540 | SLC16A9 | c.704A>T (p.Glu235Val) c.443A>T (p.Glu148Val) | |
| 10 | g.59654322T>C | CA377064539 | SLC16A9 | c.704A>G (p.Glu235Gly) c.443A>G (p.Glu148Gly) | |
| 10 | g.59654322T>G | CA377064538 | SLC16A9 | c.704A>C (p.Glu235Ala) c.443A>C (p.Glu148Ala) | |
| 10 | g.59654323C>A | CA377064541 | SLC16A9 | c.703G>T (p.Glu235Ter) c.442G>T (p.Glu148Ter) | |
| 10 | g.59654323C= | CA1913561364 | SLC16A9 | c.703G= (p.Glu235=) c.442G= (p.Glu148=) | |
| 10 | g.59654323C>G | CA377064542 | SLC16A9 | c.703G>C (p.Glu235Gln) c.442G>C (p.Glu148Gln) | |
| 10 | g.59654323C>T | CA377064543 | SLC16A9 | c.703G>A (p.Glu235Lys) c.442G>A (p.Glu148Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654324A>C | CA377064544 | SLC16A9 | c.702T>G (p.Ser234Arg) c.441T>G (p.Ser147Arg) | |
| 10 | g.59654324A>G | CA470001054 | SLC16A9 | c.702T>C (p.Ser234=) c.441T>C (p.Ser147=) | |
| 10 | g.59654324A>T | CA377064545 | SLC16A9 | c.702T>A (p.Ser234Arg) c.441T>A (p.Ser147Arg) | |
| 10 | g.59654325C>A | CA377064546 | SLC16A9 | c.701G>T (p.Ser234Ile) c.440G>T (p.Ser147Ile) | |
| 10 | g.59654325C>G | CA377064547 | SLC16A9 | c.701G>C (p.Ser234Thr) c.440G>C (p.Ser147Thr) | |
| 10 | g.59654325C>T | CA377064548 | SLC16A9 | c.701G>A (p.Ser234Asn) c.440G>A (p.Ser147Asn) | |
| 10 | g.59654326T>A | CA377064549 | SLC16A9 | c.700A>T (p.Ser234Cys) c.439A>T (p.Ser147Cys) | |
| 10 | g.59654326T>C | CA377064550 | SLC16A9 | c.700A>G (p.Ser234Gly) c.439A>G (p.Ser147Gly) | |
| 10 | g.59654326T>G | CA377064551 | SLC16A9 | c.700A>C (p.Ser234Arg) c.439A>C (p.Ser147Arg) | |
| 10 | g.59654327A>C | CA377064552 | SLC16A9 | c.699T>G (p.Ser233Arg) c.438T>G (p.Ser146Arg) | |
| 10 | g.59654327A>G | CA470001055 | SLC16A9 | c.699T>C (p.Ser233=) c.438T>C (p.Ser146=) | gnomAD v4 COSMIC |
| 10 | g.59654327A>T | CA377064553 | SLC16A9 | c.699T>A (p.Ser233Arg) c.438T>A (p.Ser146Arg) | |
| 10 | g.59654328C>A | CA377064555 | SLC16A9 | c.698G>T (p.Ser233Ile) c.437G>T (p.Ser146Ile) | |
| 10 | g.59654328C>G | CA377064556 | SLC16A9 | c.698G>C (p.Ser233Thr) c.437G>C (p.Ser146Thr) | |
| 10 | g.59654328C>T | CA377064554 | SLC16A9 | c.698G>A (p.Ser233Asn) c.437G>A (p.Ser146Asn) | gnomAD v4 |
| 10 | g.59654329T>A | CA377064557 | SLC16A9 | c.697A>T (p.Ser233Cys) c.436A>T (p.Ser146Cys) | |
| 10 | g.59654329T>C | CA377064558 | SLC16A9 | c.697A>G (p.Ser233Gly) c.436A>G (p.Ser146Gly) | gnomAD v4 |
| 10 | g.59654329T>G | CA377064559 | SLC16A9 | c.697A>C (p.Ser233Arg) c.436A>C (p.Ser146Arg) | |
| 10 | g.59654330G>A | CA470001056 | SLC16A9 | c.696C>T (p.Tyr232=) c.435C>T (p.Tyr145=) | dbSNP gnomAD v4 |
| 10 | g.59654330G>C | CA377064560 | SLC16A9 | c.696C>G (p.Tyr232Ter) c.435C>G (p.Tyr145Ter) | |
| 10 | g.59654330G= | CA1913561367 | SLC16A9 | c.696C= (p.Tyr232=) c.435C= (p.Tyr145=) | |
| 10 | g.59654330G>T | CA377064561 | SLC16A9 | c.696C>A (p.Tyr232Ter) c.435C>A (p.Tyr145Ter) | |
| 10 | g.59654331T>A | CA377064562 | SLC16A9 | c.695A>T (p.Tyr232Phe) c.434A>T (p.Tyr145Phe) | |
| 10 | g.59654331T>C | CA377064563 | SLC16A9 | c.695A>G (p.Tyr232Cys) c.434A>G (p.Tyr145Cys) | |
| 10 | g.59654331T>G | CA377064564 | SLC16A9 | c.695A>C (p.Tyr232Ser) c.434A>C (p.Tyr145Ser) | |
| 10 | g.59654332A= | CA1913561368 | SLC16A9 | c.694T= (p.Tyr232=) c.433T= (p.Tyr145=) | |
| 10 | g.59654332A>C | CA377064565 | SLC16A9 | c.694T>G (p.Tyr232Asp) c.433T>G (p.Tyr145Asp) | |
| 10 | g.59654332A>G | CA377064566 | SLC16A9 | c.694T>C (p.Tyr232His) c.433T>C (p.Tyr145His) | dbSNP gnomAD v4 |
| 10 | g.59654332A>T | CA377064567 | SLC16A9 | c.694T>A (p.Tyr232Asn) c.433T>A (p.Tyr145Asn) | |
| 10 | g.59654333G>A | CA470001057 | SLC16A9 | c.693C>T (p.Ser231=) c.432C>T (p.Ser144=) | |
| 10 | g.59654333G>C | CA377064568 | SLC16A9 | c.693C>G (p.Ser231Arg) c.432C>G (p.Ser144Arg) | |
| 10 | g.59654333G>T | CA377064569 | SLC16A9 | c.693C>A (p.Ser231Arg) c.432C>A (p.Ser144Arg) | gnomAD v4 |
| 10 | g.59654334C>A | CA377064570 | SLC16A9 | c.692G>T (p.Ser231Ile) c.431G>T (p.Ser144Ile) | |
| 10 | g.59654334C>G | CA377064572 | SLC16A9 | c.692G>C (p.Ser231Thr) c.431G>C (p.Ser144Thr) | |
| 10 | g.59654334C>T | CA377064571 | SLC16A9 | c.692G>A (p.Ser231Asn) c.431G>A (p.Ser144Asn) | |
| 10 | g.59654335T>A | CA377064573 | SLC16A9 | c.691A>T (p.Ser231Cys) c.430A>T (p.Ser144Cys) | |
| 10 | g.59654335T>C | CA377064574 | SLC16A9 | c.691A>G (p.Ser231Gly) c.430A>G (p.Ser144Gly) | |
| 10 | g.59654335T>G | CA377064575 | SLC16A9 | c.691A>C (p.Ser231Arg) c.430A>C (p.Ser144Arg) | |
| 10 | g.59654336C>A | CA377064576 | SLC16A9 | c.690G>T (p.Lys230Asn) c.429G>T (p.Lys143Asn) | |
| 10 | g.59654336C>G | CA377064577 | SLC16A9 | c.690G>C (p.Lys230Asn) c.429G>C (p.Lys143Asn) | |
| 10 | g.59654336C>T | CA470001058 | SLC16A9 | c.690G>A (p.Lys230=) c.429G>A (p.Lys143=) | |
| 10 | g.59654337T>A | CA377064578 | SLC16A9 | c.689A>T (p.Lys230Met) c.428A>T (p.Lys143Met) | |
| 10 | g.59654337T>C | CA377064579 | SLC16A9 | c.689A>G (p.Lys230Arg) c.428A>G (p.Lys143Arg) | |
| 10 | g.59654337T>G | CA377064580 | SLC16A9 | c.689A>C (p.Lys230Thr) c.428A>C (p.Lys143Thr) | |
| 10 | g.59654338T>A | CA377064581 | SLC16A9 | c.688A>T (p.Lys230Ter) c.427A>T (p.Lys143Ter) | |
| 10 | g.59654338T>C | CA377064582 | SLC16A9 | c.688A>G (p.Lys230Glu) c.427A>G (p.Lys143Glu) | gnomAD v4 |
| 10 | g.59654338T>G | CA377064583 | SLC16A9 | c.688A>C (p.Lys230Gln) c.427A>C (p.Lys143Gln) | |
| 10 | g.59654339G>A | CA470001059 | SLC16A9 | c.687C>T (p.Asp229=) c.426C>T (p.Asp142=) | |
| 10 | g.59654339G>C | CA377064585 | SLC16A9 | c.687C>G (p.Asp229Glu) c.426C>G (p.Asp142Glu) | |
| 10 | g.59654339G>T | CA377064584 | SLC16A9 | c.687C>A (p.Asp229Glu) c.426C>A (p.Asp142Glu) | gnomAD v4 |
| 10 | g.59654340T>A | CA377064586 | SLC16A9 | c.686A>T (p.Asp229Val) c.425A>T (p.Asp142Val) | |
| 10 | g.59654340T>C | CA377064588 | SLC16A9 | c.686A>G (p.Asp229Gly) c.425A>G (p.Asp142Gly) | |
| 10 | g.59654340T>G | CA377064587 | SLC16A9 | c.686A>C (p.Asp229Ala) c.425A>C (p.Asp142Ala) | |
| 10 | g.59654341C>A | CA377064589 | SLC16A9 | c.685G>T (p.Asp229Tyr) c.424G>T (p.Asp142Tyr) | |
| 10 | g.59654341C= | CA1913561379 | SLC16A9 | c.685G= (p.Asp229=) c.424G= (p.Asp142=) | |
| 10 | g.59654341C>G | CA377064591 | SLC16A9 | c.685G>C (p.Asp229His) c.424G>C (p.Asp142His) | |
| 10 | g.59654341C>T | CA377064590 | SLC16A9 | c.685G>A (p.Asp229Asn) c.424G>A (p.Asp142Asn) | dbSNP |
| 10 | g.59654342A= | CA1913561386 | SLC16A9 | c.684T= (p.Leu228=) c.423T= (p.Leu141=) | |
| 10 | g.59654342A>C | CA470001060 | SLC16A9 | c.684T>G (p.Leu228=) c.423T>G (p.Leu141=) | |
| 10 | g.59654342A>G | CA470001061 | SLC16A9 | c.684T>C (p.Leu228=) c.423T>C (p.Leu141=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654342A>T | CA470001062 | SLC16A9 | c.684T>A (p.Leu228=) c.423T>A (p.Leu141=) | |
| 10 | g.59654343A= | CA1913561392 | SLC16A9 | c.683T= (p.Leu228=) c.422T= (p.Leu141=) | |
| 10 | g.59654343A>C | CA377064592 | SLC16A9 | c.683T>G (p.Leu228Arg) c.422T>G (p.Leu141Arg) | |
| 10 | g.59654343A>G | CA377064593 | SLC16A9 | c.683T>C (p.Leu228Pro) c.422T>C (p.Leu141Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.59654343A>T | CA377064594 | SLC16A9 | c.683T>A (p.Leu228His) c.422T>A (p.Leu141His) | |
| 10 | g.59654344G>A | CA377064595 | SLC16A9 | c.682C>T (p.Leu228Phe) c.421C>T (p.Leu141Phe) | |
| 10 | g.59654344G>C | CA377064596 | SLC16A9 | c.682C>G (p.Leu228Val) c.421C>G (p.Leu141Val) | |
| 10 | g.59654344G= | CA1913561401 | SLC16A9 | c.682C= (p.Leu228=) c.421C= (p.Leu141=) | |
| 10 | g.59654344G>T | CA208153606 | SLC16A9 | c.682C>A (p.Leu228Ile) c.421C>A (p.Leu141Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.59654345A>C | CA377064597 | SLC16A9 | c.681T>G (p.Ile227Met) c.420T>G (p.Ile140Met) | |
| 10 | g.59654345A>G | CA470001063 | SLC16A9 | c.681T>C (p.Ile227=) c.420T>C (p.Ile140=) | gnomAD v4 |
| 10 | g.59654345A>T | CA470001064 | SLC16A9 | c.681T>A (p.Ile227=) c.420T>A (p.Ile140=) | |
| 10 | g.59654346A>C | CA377064598 | SLC16A9 | c.680T>G (p.Ile227Ser) c.419T>G (p.Ile140Ser) | |
| 10 | g.59654346A>G | CA377064599 | SLC16A9 | c.680T>C (p.Ile227Thr) c.419T>C (p.Ile140Thr) | gnomAD v4 |
| 10 | g.59654346A>T | CA377064600 | SLC16A9 | c.680T>A (p.Ile227Asn) c.419T>A (p.Ile140Asn) | |
| 10 | g.59654347T>A | CA377064603 | SLC16A9 | c.679A>T (p.Ile227Phe) c.418A>T (p.Ile140Phe) | |
| 10 | g.59654347T>C | CA377064602 | SLC16A9 | c.679A>G (p.Ile227Val) c.418A>G (p.Ile140Val) | |
| 10 | g.59654347T>G | CA377064601 | SLC16A9 | c.679A>C (p.Ile227Leu) c.418A>C (p.Ile140Leu) | |
| 10 | g.59654348G>A | CA470001068 | SLC16A9 | c.678C>T (p.Asn226=) c.417C>T (p.Asn139=) | COSMIC |
| 10 | g.59654348G>C | CA377064604 | SLC16A9 | c.678C>G (p.Asn226Lys) c.417C>G (p.Asn139Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.59654348G= | CA1913561405 | SLC16A9 | c.678C= (p.Asn226=) c.417C= (p.Asn139=) | |
| 10 | g.59654348G>T | CA377064605 | SLC16A9 | c.678C>A (p.Asn226Lys) c.417C>A (p.Asn139Lys) | |
| 10 | g.59654349T>A | CA377064606 | SLC16A9 | c.677A>T (p.Asn226Ile) c.416A>T (p.Asn139Ile) | |
| 10 | g.59654349T>C | CA377064607 | SLC16A9 | c.677A>G (p.Asn226Ser) c.416A>G (p.Asn139Ser) | gnomAD v4 |
| 10 | g.59654349T>G | CA377064608 | SLC16A9 | c.677A>C (p.Asn226Thr) c.416A>C (p.Asn139Thr) | |
| 10 | g.59654350T>A | CA377064609 | SLC16A9 | c.676A>T (p.Asn226Tyr) c.415A>T (p.Asn139Tyr) | |
| 10 | g.59654350T>C | CA377064610 | SLC16A9 | c.676A>G (p.Asn226Asp) c.415A>G (p.Asn139Asp) | |
| 10 | g.59654350T>G | CA377064611 | SLC16A9 | c.676A>C (p.Asn226His) c.415A>C (p.Asn139His) | |
| 10 | g.59654351T>A | CA470001071 | SLC16A9 | c.675A>T (p.Ile225=) c.414A>T (p.Ile138=) | |
| 10 | g.59654351T>C | CA377064612 | SLC16A9 | c.675A>G (p.Ile225Met) c.414A>G (p.Ile138Met) | |
| 10 | g.59654351T>G | CA470001070 | SLC16A9 | c.675A>C (p.Ile225=) c.414A>C (p.Ile138=) | |
| 10 | g.59654352_59654353del | CA2609266085 | SLC16A9 | c.674_675del (p.Ile225LysfsTer4) c.413_414del (p.Ile138LysfsTer4) | gnomAD v4 |
| 10 | g.59654352A>C | CA377064613 | SLC16A9 | c.674T>G (p.Ile225Arg) c.413T>G (p.Ile138Arg) | |
| 10 | g.59654352A>G | CA377064614 | SLC16A9 | c.674T>C (p.Ile225Thr) c.413T>C (p.Ile138Thr) | |
| 10 | g.59654352A>T | CA377064615 | SLC16A9 | c.674T>A (p.Ile225Lys) c.413T>A (p.Ile138Lys) | gnomAD v4 |
| 10 | g.59654353T>A | CA377064617 | SLC16A9 | c.673A>T (p.Ile225Leu) c.412A>T (p.Ile138Leu) | |
| 10 | g.59654353T>C | CA377064618 | SLC16A9 | c.673A>G (p.Ile225Val) c.412A>G (p.Ile138Val) | |
| 10 | g.59654353T>G | CA377064616 | SLC16A9 | c.673A>C (p.Ile225Leu) c.412A>C (p.Ile138Leu) | gnomAD v4 |
| 10 | g.59654354G>A | CA470001073 | SLC16A9 | c.672C>T (p.Asn224=) c.411C>T (p.Asn137=) | |
| 10 | g.59654354G>C | CA377064619 | SLC16A9 | c.672C>G (p.Asn224Lys) c.411C>G (p.Asn137Lys) | |
| 10 | g.59654354G>T | CA377064620 | SLC16A9 | c.672C>A (p.Asn224Lys) c.411C>A (p.Asn137Lys) | |
| 10 | g.59654355T>A | CA377064621 | SLC16A9 | c.671A>T (p.Asn224Ile) c.410A>T (p.Asn137Ile) | |
| 10 | g.59654355T>C | CA377064622 | SLC16A9 | c.671A>G (p.Asn224Ser) c.410A>G (p.Asn137Ser) | |
| 10 | g.59654355T>G | CA377064623 | SLC16A9 | c.671A>C (p.Asn224Thr) c.410A>C (p.Asn137Thr) | |
| 10 | g.59654356T>A | CA377064624 | SLC16A9 | c.670A>T (p.Asn224Tyr) c.409A>T (p.Asn137Tyr) | |
| 10 | g.59654356T>C | CA377064625 | SLC16A9 | c.670A>G (p.Asn224Asp) c.409A>G (p.Asn137Asp) | |
| 10 | g.59654356T>G | CA377064626 | SLC16A9 | c.670A>C (p.Asn224His) c.409A>C (p.Asn137His) | |
| 10 | g.59654357T>A | CA377064627 | SLC16A9 | c.669A>T (p.Glu223Asp) c.408A>T (p.Glu136Asp) | |
| 10 | g.59654357T>C | CA470001077 | SLC16A9 | c.669A>G (p.Glu223=) c.408A>G (p.Glu136=) | |
| 10 | g.59654357T>G | CA377064628 | SLC16A9 | c.669A>C (p.Glu223Asp) c.408A>C (p.Glu136Asp) | |
| 10 | g.59654358T>A | CA377064629 | SLC16A9 | c.668A>T (p.Glu223Val) c.407A>T (p.Glu136Val) | |
| 10 | g.59654358T>C | CA5509958 | SLC16A9 | c.668A>G (p.Glu223Gly) c.407A>G (p.Glu136Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.59654358T>G | CA377064630 | SLC16A9 | c.668A>C (p.Glu223Ala) c.407A>C (p.Glu136Ala) | |
| 10 | g.59654358T= | CA1913561406 | SLC16A9 | c.668A= (p.Glu223=) c.407A= (p.Glu136=) | |
| 10 | g.59654359C>A | CA377064633 | SLC16A9 | c.667G>T (p.Glu223Ter) c.406G>T (p.Glu136Ter) | COSMIC |
| 10 | g.59654359C>G | CA377064632 | SLC16A9 | c.667G>C (p.Glu223Gln) c.406G>C (p.Glu136Gln) | |
| 10 | g.59654359C>T | CA377064631 | SLC16A9 | c.667G>A (p.Glu223Lys) c.406G>A (p.Glu136Lys) | |
| 10 | g.59654360T>A | CA377064634 | SLC16A9 | c.666A>T (p.Glu222Asp) c.405A>T (p.Glu135Asp) | |
| 10 | g.59654360T>C | CA470001078 | SLC16A9 | c.666A>G (p.Glu222=) c.405A>G (p.Glu135=) | |
| 10 | g.59654360T>G | CA377064635 | SLC16A9 | c.666A>C (p.Glu222Asp) c.405A>C (p.Glu135Asp) | |
| 10 | g.59654361T>A | CA377064636 | SLC16A9 | c.665A>T (p.Glu222Val) c.404A>T (p.Glu135Val) | |
| 10 | g.59654361T>C | CA377064637 | SLC16A9 | c.665A>G (p.Glu222Gly) c.404A>G (p.Glu135Gly) | |
| 10 | g.59654361T>G | CA377064638 | SLC16A9 | c.665A>C (p.Glu222Ala) c.404A>C (p.Glu135Ala) | |
| 10 | g.59654362C>A | CA377064639 | SLC16A9 | c.664G>T (p.Glu222Ter) c.403G>T (p.Glu135Ter) | |
| 10 | g.59654362C= | CA1913561410 | SLC16A9 | c.664G= (p.Glu222=) c.403G= (p.Glu135=) | |
| 10 | g.59654362C>G | CA377064640 | SLC16A9 | c.664G>C (p.Glu222Gln) c.403G>C (p.Glu135Gln) | |
| 10 | g.59654362C>T | CA377064641 | SLC16A9 | c.664G>A (p.Glu222Lys) c.403G>A (p.Glu135Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.59654363C>A | CA470001079 | SLC16A9 | c.663G>T (p.Leu221=) c.402G>T (p.Leu134=) | gnomAD v4 |
| 10 | g.59654363C>G | CA470001080 | SLC16A9 | c.663G>C (p.Leu221=) c.402G>C (p.Leu134=) | |
| 10 | g.59654363C>T | CA470001081 | SLC16A9 | c.663G>A (p.Leu221=) c.402G>A (p.Leu134=) | |
| 10 | g.59654364A>C | CA377064642 | SLC16A9 | c.662T>G (p.Leu221Arg) c.401T>G (p.Leu134Arg) | |
| 10 | g.59654364A>G | CA377064643 | SLC16A9 | c.662T>C (p.Leu221Pro) c.401T>C (p.Leu134Pro) | |
| 10 | g.59654364A>T | CA377064644 | SLC16A9 | c.662T>A (p.Leu221Gln) c.401T>A (p.Leu134Gln) |