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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.24143511C>A | CA351891325 | THRB | c.728G>T (p.Arg243Leu) c.*1357G>T (n.*1357G>T) c.773G>T (p.Arg258Leu) c.635G>T (p.Arg212Leu) | |
| 3 | g.24143511C= | CA1351830684 | THRB | c.728G= (p.Arg243=) c.*1357G= (n.*1357G=) c.773G= (p.Arg258=) c.635G= (p.Arg212=) | |
| 3 | g.24143511C>G | CA351891326 | THRB | c.728G>C (p.Arg243Pro) c.*1357G>C (n.*1357G>C) c.773G>C (p.Arg258Pro) c.635G>C (p.Arg212Pro) | |
| 3 | g.24143511C>T | CA122509 | THRB | c.728G>A (p.Arg243Gln) c.*1357G>A (n.*1357G>A) c.773G>A (p.Arg258Gln) c.635G>A (p.Arg212Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.24143512G>A | CA122511 | THRB | c.727C>T (p.Arg243Trp) c.*1356C>T (n.*1356C>T) c.772C>T (p.Arg258Trp) c.634C>T (p.Arg212Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.24143512G>C | CA351891327 | THRB | c.727C>G (p.Arg243Gly) c.*1356C>G (n.*1356C>G) c.772C>G (p.Arg258Gly) c.634C>G (p.Arg212Gly) | ClinVar dbSNP |
| 3 | g.24143512G= | CA1351830685 | THRB | c.727C= (p.Arg243=) c.*1356C= (n.*1356C=) c.772C= (p.Arg258=) c.634C= (p.Arg212=) | |
| 3 | g.24143512G>T | CA432839113 | THRB | c.727C>A (p.Arg243=) c.*1356C>A (n.*1356C>A) c.772C>A (p.Arg258=) c.634C>A (p.Arg212=) | |
| 3 | g.24143513T>A | CA351891328 | THRB | c.726A>T (p.Lys242Asn) c.*1355A>T (n.*1355A>T) c.771A>T (p.Lys257Asn) c.633A>T (p.Lys211Asn) | |
| 3 | g.24143513T>C | CA432839114 | THRB | c.726A>G (p.Lys242=) c.*1355A>G (n.*1355A>G) c.771A>G (p.Lys257=) c.633A>G (p.Lys211=) | |
| 3 | g.24143513T>G | CA351891329 | THRB | c.726A>C (p.Lys242Asn) c.*1355A>C (n.*1355A>C) c.771A>C (p.Lys257Asn) c.633A>C (p.Lys211Asn) | |
| 3 | g.24143517dup | CA2838839135 | THRB | c.726dup (p.Arg243ThrfsTer23) c.*1355dup (n.*1355dup) c.771dup (p.Arg258ThrfsTer23) c.633dup (p.Arg212ThrfsTer23) | |
| 3 | g.24143514T>A | CA351891332 | THRB | c.725A>T (p.Lys242Ile) c.*1354A>T (n.*1354A>T) c.770A>T (p.Lys257Ile) c.632A>T (p.Lys211Ile) | |
| 3 | g.24143514T>C | CA351891331 | THRB | c.725A>G (p.Lys242Arg) c.*1354A>G (n.*1354A>G) c.770A>G (p.Lys257Arg) c.632A>G (p.Lys211Arg) | |
| 3 | g.24143514T>G | CA351891330 | THRB | c.725A>C (p.Lys242Thr) c.*1354A>C (n.*1354A>C) c.770A>C (p.Lys257Thr) c.632A>C (p.Lys211Thr) | |
| 3 | g.24143515T>A | CA351891333 | THRB | c.724A>T (p.Lys242Ter) c.*1353A>T (n.*1353A>T) c.769A>T (p.Lys257Ter) c.631A>T (p.Lys211Ter) | |
| 3 | g.24143515T>C | CA351891335 | THRB | c.724A>G (p.Lys242Glu) c.*1353A>G (n.*1353A>G) c.769A>G (p.Lys257Glu) c.631A>G (p.Lys211Glu) | |
| 3 | g.24143515T>G | CA351891334 | THRB | c.724A>C (p.Lys242Gln) c.*1353A>C (n.*1353A>C) c.769A>C (p.Lys257Gln) c.631A>C (p.Lys211Gln) | |
| 3 | g.24143516T>A | CA351891336 | THRB | c.723A>T (p.Gln241His) c.*1352A>T (n.*1352A>T) c.768A>T (p.Gln256His) c.630A>T (p.Gln210His) | |
| 3 | g.24143516T>C | CA432839117 | THRB | c.723A>G (p.Gln241=) c.*1352A>G (n.*1352A>G) c.768A>G (p.Gln256=) c.630A>G (p.Gln210=) | COSMIC |
| 3 | g.24143516T>G | CA351891337 | THRB | c.723A>C (p.Gln241His) c.*1352A>C (n.*1352A>C) c.768A>C (p.Gln256His) c.630A>C (p.Gln210His) | |
| 3 | g.24143517T>A | CA351891338 | THRB | c.722A>T (p.Gln241Leu) c.*1351A>T (n.*1351A>T) c.767A>T (p.Gln256Leu) c.629A>T (p.Gln210Leu) | |
| 3 | g.24143517T>C | CA351891339 | THRB | c.722A>G (p.Gln241Arg) c.*1351A>G (n.*1351A>G) c.767A>G (p.Gln256Arg) c.629A>G (p.Gln210Arg) | |
| 3 | g.24143517T>G | CA351891340 | THRB | c.722A>C (p.Gln241Pro) c.*1351A>C (n.*1351A>C) c.767A>C (p.Gln256Pro) c.629A>C (p.Gln210Pro) | |
| 3 | g.24143518G>A | CA351891341 | THRB | c.721C>T (p.Gln241Ter) c.*1350C>T (n.*1350C>T) c.766C>T (p.Gln256Ter) c.628C>T (p.Gln210Ter) | |
| 3 | g.24143518G>C | CA351891342 | THRB | c.721C>G (p.Gln241Glu) c.*1350C>G (n.*1350C>G) c.766C>G (p.Gln256Glu) c.628C>G (p.Gln210Glu) | gnomAD v4 |
| 3 | g.24143518G>T | CA351891343 | THRB | c.721C>A (p.Gln241Lys) c.*1350C>A (n.*1350C>A) c.766C>A (p.Gln256Lys) c.628C>A (p.Gln210Lys) | |
| 3 | g.24143519C>A | CA351891344 | THRB | c.720G>T (p.Lys240Asn) c.*1349G>T (n.*1349G>T) c.765G>T (p.Lys255Asn) c.627G>T (p.Lys209Asn) | |
| 3 | g.24143519C= | CA1351830686 | THRB | c.720G= (p.Lys240=) c.*1349G= (n.*1349G=) c.765G= (p.Lys255=) c.627G= (p.Lys209=) | |
| 3 | g.24143519C>G | CA351891345 | THRB | c.720G>C (p.Lys240Asn) c.*1349G>C (n.*1349G>C) c.765G>C (p.Lys255Asn) c.627G>C (p.Lys209Asn) | |
| 3 | g.24143519C>T | CA2287194 | THRB | c.720G>A (p.Lys240=) c.*1349G>A (n.*1349G>A) c.765G>A (p.Lys255=) c.627G>A (p.Lys209=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24143520T>A | CA351891348 | THRB | c.719A>T (p.Lys240Met) c.*1348A>T (n.*1348A>T) c.764A>T (p.Lys255Met) c.626A>T (p.Lys209Met) | |
| 3 | g.24143520T>C | CA351891347 | THRB | c.719A>G (p.Lys240Arg) c.*1348A>G (n.*1348A>G) c.764A>G (p.Lys255Arg) c.626A>G (p.Lys209Arg) | |
| 3 | g.24143520T>G | CA351891346 | THRB | c.719A>C (p.Lys240Thr) c.*1348A>C (n.*1348A>C) c.764A>C (p.Lys255Thr) c.626A>C (p.Lys209Thr) | |
| 3 | g.24143521T>A | CA351891349 | THRB | c.718A>T (p.Lys240Ter) c.*1347A>T (n.*1347A>T) c.763A>T (p.Lys255Ter) c.625A>T (p.Lys209Ter) | |
| 3 | g.24143521T>C | CA351891350 | THRB | c.718A>G (p.Lys240Glu) c.*1347A>G (n.*1347A>G) c.763A>G (p.Lys255Glu) c.625A>G (p.Lys209Glu) | |
| 3 | g.24143521T>G | CA351891351 | THRB | c.718A>C (p.Lys240Gln) c.*1347A>C (n.*1347A>C) c.763A>C (p.Lys255Gln) c.625A>C (p.Lys209Gln) | |
| 3 | g.24143522C>A | CA351891352 | THRB | c.717G>T (p.Trp239Cys) c.*1346G>T (n.*1346G>T) c.762G>T (p.Trp254Cys) c.624G>T (p.Trp208Cys) | |
| 3 | g.24143522C>G | CA351891353 | THRB | c.717G>C (p.Trp239Cys) c.*1346G>C (n.*1346G>C) c.762G>C (p.Trp254Cys) c.624G>C (p.Trp208Cys) | |
| 3 | g.24143522C>T | CA351891354 | THRB | c.717G>A (p.Trp239Ter) c.*1346G>A (n.*1346G>A) c.762G>A (p.Trp254Ter) c.624G>A (p.Trp208Ter) | |
| 3 | g.24143523C>A | CA351891355 | THRB | c.716G>T (p.Trp239Leu) c.*1345G>T (n.*1345G>T) c.761G>T (p.Trp254Leu) c.623G>T (p.Trp208Leu) | |
| 3 | g.24143523C= | CA1351830687 | THRB | c.716G= (p.Trp239=) c.*1345G= (n.*1345G=) c.761G= (p.Trp254=) c.623G= (p.Trp208=) | |
| 3 | g.24143523C>G | CA351891356 | THRB | c.716G>C (p.Trp239Ser) c.*1345G>C (n.*1345G>C) c.761G>C (p.Trp254Ser) c.623G>C (p.Trp208Ser) | |
| 3 | g.24143523C>T | CA351891357 | THRB | c.716G>A (p.Trp239Ter) c.*1345G>A (n.*1345G>A) c.761G>A (p.Trp254Ter) c.623G>A (p.Trp208Ter) | dbSNP |
| 3 | g.24143524A>C | CA351891358 | THRB | c.715T>G (p.Trp239Gly) c.*1344T>G (n.*1344T>G) c.760T>G (p.Trp254Gly) c.622T>G (p.Trp208Gly) | |
| 3 | g.24143524A>G | CA351891359 | THRB | c.715T>C (p.Trp239Arg) c.*1344T>C (n.*1344T>C) c.760T>C (p.Trp254Arg) c.622T>C (p.Trp208Arg) | |
| 3 | g.24143524A>T | CA351891360 | THRB | c.715T>A (p.Trp239Arg) c.*1344T>A (n.*1344T>A) c.760T>A (p.Trp254Arg) c.622T>A (p.Trp208Arg) | |
| 3 | g.24143525G>A | CA432839123 | THRB | c.714C>T (p.His238=) c.*1343C>T (n.*1343C>T) c.759C>T (p.His253=) c.621C>T (p.His207=) | gnomAD v4 |
| 3 | g.24143525G>C | CA351891362 | THRB | c.714C>G (p.His238Gln) c.*1343C>G (n.*1343C>G) c.759C>G (p.His253Gln) c.621C>G (p.His207Gln) | |
| 3 | g.24143525G>T | CA351891361 | THRB | c.714C>A (p.His238Gln) c.*1343C>A (n.*1343C>A) c.759C>A (p.His253Gln) c.621C>A (p.His207Gln) | |
| 3 | g.24143526T>A | CA351891363 | THRB | c.713A>T (p.His238Leu) c.*1342A>T (n.*1342A>T) c.758A>T (p.His253Leu) c.620A>T (p.His207Leu) | |
| 3 | g.24143526T>C | CA351891365 | THRB | c.713A>G (p.His238Arg) c.*1342A>G (n.*1342A>G) c.758A>G (p.His253Arg) c.620A>G (p.His207Arg) | |
| 3 | g.24143526T>G | CA351891364 | THRB | c.713A>C (p.His238Pro) c.*1342A>C (n.*1342A>C) c.758A>C (p.His253Pro) c.620A>C (p.His207Pro) | |
| 3 | g.24143526_24143527insTTTTTT | CA2755546670 | THRB | c.713_714insAAAAAA (p.His238delinsGlnLysAsn) c.*1342_*1343insAAAAAA (n.*1342_*1343insAAAAAA) c.758_759insAAAAAA (p.His253delinsGlnLysAsn) c.620_621insAAAAAA (p.His207delinsGlnLysAsn) | |
| 3 | g.24143527G>A | CA351891366 | THRB | c.712C>T (p.His238Tyr) c.*1341C>T (n.*1341C>T) c.757C>T (p.His253Tyr) c.619C>T (p.His207Tyr) | |
| 3 | g.24143527G>C | CA351891367 | THRB | c.712C>G (p.His238Asp) c.*1341C>G (n.*1341C>G) c.757C>G (p.His253Asp) c.619C>G (p.His207Asp) | |
| 3 | g.24143527G>T | CA351891368 | THRB | c.712C>A (p.His238Asn) c.*1341C>A (n.*1341C>A) c.757C>A (p.His253Asn) c.619C>A (p.His207Asn) | |
| 3 | g.24143528G>A | CA432839124 | THRB | c.711C>T (p.Ser237=) c.*1340C>T (n.*1340C>T) c.756C>T (p.Ser252=) c.618C>T (p.Ser206=) | |
| 3 | g.24143528G>C | CA351891369 | THRB | c.711C>G (p.Ser237Arg) c.*1340C>G (n.*1340C>G) c.756C>G (p.Ser252Arg) c.618C>G (p.Ser206Arg) | |
| 3 | g.24143528G>T | CA351891370 | THRB | c.711C>A (p.Ser237Arg) c.*1340C>A (n.*1340C>A) c.756C>A (p.Ser252Arg) c.618C>A (p.Ser206Arg) | |
| 3 | g.24143528_24143529insTTTTTTT | CA2755546671 | THRB | c.710_711insAAAAAAA (p.Ser237ArgfsTer31) c.*1339_*1340insAAAAAAA (n.*1339_*1340insAAAAAAA) c.755_756insAAAAAAA (p.Ser252ArgfsTer31) c.617_618insAAAAAAA (p.Ser206ArgfsTer31) | |
| 3 | g.24143528_24143529insTTTTTTTTT | CA2755546672 | THRB | c.710_711insAAAAAAAAA (p.Ser237delinsArgLysLysAsn) c.*1339_*1340insAAAAAAAAA (n.*1339_*1340insAAAAAAAAA) c.755_756insAAAAAAAAA (p.Ser252delinsArgLysLysAsn) c.617_618insAAAAAAAAA (p.Ser206delinsArgLysLysAsn) | |
| 3 | g.24143529C>A | CA351891371 | THRB | c.710G>T (p.Ser237Ile) c.*1339G>T (n.*1339G>T) c.755G>T (p.Ser252Ile) c.617G>T (p.Ser206Ile) | |
| 3 | g.24143529C>G | CA351891372 | THRB | c.710G>C (p.Ser237Thr) c.*1339G>C (n.*1339G>C) c.755G>C (p.Ser252Thr) c.617G>C (p.Ser206Thr) | |
| 3 | g.24143529C>T | CA351891373 | THRB | c.710G>A (p.Ser237Asn) c.*1339G>A (n.*1339G>A) c.755G>A (p.Ser252Asn) c.617G>A (p.Ser206Asn) | |
| 3 | g.24143530T>A | CA351891374 | THRB | c.709A>T (p.Ser237Cys) c.*1338A>T (n.*1338A>T) c.754A>T (p.Ser252Cys) c.616A>T (p.Ser206Cys) | |
| 3 | g.24143530T>C | CA351891375 | THRB | c.709A>G (p.Ser237Gly) c.*1338A>G (n.*1338A>G) c.754A>G (p.Ser252Gly) c.616A>G (p.Ser206Gly) | |
| 3 | g.24143530T>G | CA351891376 | THRB | c.709A>C (p.Ser237Arg) c.*1338A>C (n.*1338A>C) c.754A>C (p.Ser252Arg) c.616A>C (p.Ser206Arg) | |
| 3 | g.24143531G>A | CA432839128 | THRB | c.708C>T (p.Gly236=) c.*1337C>T (n.*1337C>T) c.753C>T (p.Gly251=) c.615C>T (p.Gly205=) | dbSNP |
| 3 | g.24143531G>C | CA432839126 | THRB | c.708C>G (p.Gly236=) c.*1337C>G (n.*1337C>G) c.753C>G (p.Gly251=) c.615C>G (p.Gly205=) | |
| 3 | g.24143531G= | CA1351830688 | THRB | c.708C= (p.Gly236=) c.*1337C= (n.*1337C=) c.753C= (p.Gly251=) c.615C= (p.Gly205=) | |
| 3 | g.24143531G>T | CA71620623 | THRB | c.708C>A (p.Gly236=) c.*1337C>A (n.*1337C>A) c.753C>A (p.Gly251=) c.615C>A (p.Gly205=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.24143532C>A | CA351891378 | THRB | c.707G>T (p.Gly236Val) c.*1336G>T (n.*1336G>T) c.752G>T (p.Gly251Val) c.614G>T (p.Gly205Val) | |
| 3 | g.24143532C= | CA1351830689 | THRB | c.707G= (p.Gly236=) c.*1336G= (n.*1336G=) c.752G= (p.Gly251=) c.614G= (p.Gly205=) | |
| 3 | g.24143532C>G | CA2287195 | THRB | c.707G>C (p.Gly236Ala) c.*1336G>C (n.*1336G>C) c.752G>C (p.Gly251Ala) c.614G>C (p.Gly205Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24143532C>T | CA351891377 | THRB | c.707G>A (p.Gly236Asp) c.*1336G>A (n.*1336G>A) c.752G>A (p.Gly251Asp) c.614G>A (p.Gly205Asp) | |
| 3 | g.24143533C>A | CA351891379 | THRB | c.706G>T (p.Gly236Cys) c.*1335G>T (n.*1335G>T) c.751G>T (p.Gly251Cys) c.613G>T (p.Gly205Cys) | |
| 3 | g.24143533C>G | CA351891380 | THRB | c.706G>C (p.Gly236Arg) c.*1335G>C (n.*1335G>C) c.751G>C (p.Gly251Arg) c.613G>C (p.Gly205Arg) | |
| 3 | g.24143533C>T | CA351891381 | THRB | c.706G>A (p.Gly236Ser) c.*1335G>A (n.*1335G>A) c.751G>A (p.Gly251Ser) c.613G>A (p.Gly205Ser) | |
| 3 | g.24143534T>A | CA351891382 | THRB | c.705A>T (p.Gln235His) c.*1334A>T (n.*1334A>T) c.750A>T (p.Gln250His) c.612A>T (p.Gln204His) | |
| 3 | g.24143534T>C | CA2287196 | THRB | c.705A>G (p.Gln235=) c.*1334A>G (n.*1334A>G) c.750A>G (p.Gln250=) c.612A>G (p.Gln204=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24143534T>G | CA351891383 | THRB | c.705A>C (p.Gln235His) c.*1334A>C (n.*1334A>C) c.750A>C (p.Gln250His) c.612A>C (p.Gln204His) | |
| 3 | g.24143534T= | CA1351830690 | THRB | c.705A= (p.Gln235=) c.*1334A= (n.*1334A=) c.750A= (p.Gln250=) c.612A= (p.Gln204=) | |
| 3 | g.24143535T>A | CA351891384 | THRB | c.704A>T (p.Gln235Leu) c.*1333A>T (n.*1333A>T) c.749A>T (p.Gln250Leu) c.611A>T (p.Gln204Leu) | |
| 3 | g.24143535T>C | CA351891385 | THRB | c.704A>G (p.Gln235Arg) c.*1333A>G (n.*1333A>G) c.749A>G (p.Gln250Arg) c.611A>G (p.Gln204Arg) | |
| 3 | g.24143535T>G | CA351891386 | THRB | c.704A>C (p.Gln235Pro) c.*1333A>C (n.*1333A>C) c.749A>C (p.Gln250Pro) c.611A>C (p.Gln204Pro) | |
| 3 | g.24143536G>A | CA351891387 | THRB | c.703C>T (p.Gln235Ter) c.*1332C>T (n.*1332C>T) c.748C>T (p.Gln250Ter) c.610C>T (p.Gln204Ter) | gnomAD v4 |
| 3 | g.24143536G>C | CA351891388 | THRB | c.703C>G (p.Gln235Glu) c.*1332C>G (n.*1332C>G) c.748C>G (p.Gln250Glu) c.610C>G (p.Gln204Glu) | |
| 3 | g.24143536G= | CA1351830691 | THRB | c.703C= (p.Gln235=) c.*1332C= (n.*1332C=) c.748C= (p.Gln250=) c.610C= (p.Gln204=) | |
| 3 | g.24143536G>T | CA71620638 | THRB | c.703C>A (p.Gln235Lys) c.*1332C>A (n.*1332C>A) c.748C>A (p.Gln250Lys) c.610C>A (p.Gln204Lys) | dbSNP gnomAD v4 |
| 3 | g.24143537G>A | CA432839130 | THRB | c.702C>T (p.Ala234=) c.*1331C>T (n.*1331C>T) c.747C>T (p.Ala249=) c.609C>T (p.Ala203=) | dbSNP |
| 3 | g.24143537G>C | CA432839131 | THRB | c.702C>G (p.Ala234=) c.*1331C>G (n.*1331C>G) c.747C>G (p.Ala249=) c.609C>G (p.Ala203=) | |
| 3 | g.24143537G= | CA1351830692 | THRB | c.702C= (p.Ala234=) c.*1331C= (n.*1331C=) c.747C= (p.Ala249=) c.609C= (p.Ala203=) | |
| 3 | g.24143537G>T | CA432839132 | THRB | c.702C>A (p.Ala234=) c.*1331C>A (n.*1331C>A) c.747C>A (p.Ala249=) c.609C>A (p.Ala203=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24143538G>A | CA351891391 | THRB | c.701C>T (p.Ala234Val) c.*1330C>T (n.*1330C>T) c.746C>T (p.Ala249Val) c.608C>T (p.Ala203Val) | ClinVar dbSNP COSMIC |
| 3 | g.24143538G>C | CA351891390 | THRB | c.701C>G (p.Ala234Gly) c.*1330C>G (n.*1330C>G) c.746C>G (p.Ala249Gly) c.608C>G (p.Ala203Gly) | |
| 3 | g.24143538G= | CA1351830693 | THRB | c.701C= (p.Ala234=) c.*1330C= (n.*1330C=) c.746C= (p.Ala249=) c.608C= (p.Ala203=) | |
| 3 | g.24143538G>T | CA351891389 | THRB | c.701C>A (p.Ala234Asp) c.*1330C>A (n.*1330C>A) c.746C>A (p.Ala249Asp) c.608C>A (p.Ala203Asp) | |
| 3 | g.24143539C>A | CA351891392 | THRB | c.700G>T (p.Ala234Ser) c.*1329G>T (n.*1329G>T) c.745G>T (p.Ala249Ser) c.607G>T (p.Ala203Ser) | |
| 3 | g.24143539C= | CA1351830694 | THRB | c.700G= (p.Ala234=) c.*1329G= (n.*1329G=) c.745G= (p.Ala249=) c.607G= (p.Ala203=) | |
| 3 | g.24143539C>G | CA351891393 | THRB | c.700G>C (p.Ala234Pro) c.*1329G>C (n.*1329G>C) c.745G>C (p.Ala249Pro) c.607G>C (p.Ala203Pro) | ClinVar dbSNP |
| 3 | g.24143539C>T | CA122489 | THRB | c.700G>A (p.Ala234Thr) c.*1329G>A (n.*1329G>A) c.745G>A (p.Ala249Thr) c.607G>A (p.Ala203Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.24143540G>A | CA2287197 | THRB | c.699C>T (p.Asn233=) c.*1328C>T (n.*1328C>T) c.744C>T (p.Asn248=) c.606C>T (p.Asn202=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24143540G>C | CA351891395 | THRB | c.699C>G (p.Asn233Lys) c.*1328C>G (n.*1328C>G) c.744C>G (p.Asn248Lys) c.606C>G (p.Asn202Lys) | |
| 3 | g.24143540G= | CA1351830695 | THRB | c.699C= (p.Asn233=) c.*1328C= (n.*1328C=) c.744C= (p.Asn248=) c.606C= (p.Asn202=) | |
| 3 | g.24143540G>T | CA351891394 | THRB | c.699C>A (p.Asn233Lys) c.*1328C>A (n.*1328C>A) c.744C>A (p.Asn248Lys) c.606C>A (p.Asn202Lys) | |
| 3 | g.24143541T>A | CA351891396 | THRB | c.698A>T (p.Asn233Ile) c.*1327A>T (n.*1327A>T) c.743A>T (p.Asn248Ile) c.605A>T (p.Asn202Ile) | |
| 3 | g.24143541T>C | CA351891398 | THRB | c.698A>G (p.Asn233Ser) c.*1327A>G (n.*1327A>G) c.743A>G (p.Asn248Ser) c.605A>G (p.Asn202Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24143541T>G | CA351891397 | THRB | c.698A>C (p.Asn233Thr) c.*1327A>C (n.*1327A>C) c.743A>C (p.Asn248Thr) c.605A>C (p.Asn202Thr) | dbSNP |
| 3 | g.24143541T= | CA1351830696 | THRB | c.698A= (p.Asn233=) c.*1327A= (n.*1327A=) c.743A= (p.Asn248=) c.605A= (p.Asn202=) | |
| 3 | g.24143542T>A | CA351891399 | THRB | c.697A>T (p.Asn233Tyr) c.*1326A>T (n.*1326A>T) c.742A>T (p.Asn248Tyr) c.604A>T (p.Asn202Tyr) | |
| 3 | g.24143542T>C | CA351891401 | THRB | c.697A>G (p.Asn233Asp) c.*1326A>G (n.*1326A>G) c.742A>G (p.Asn248Asp) c.604A>G (p.Asn202Asp) | |
| 3 | g.24143542T>G | CA351891400 | THRB | c.697A>C (p.Asn233His) c.*1326A>C (n.*1326A>C) c.742A>C (p.Asn248His) c.604A>C (p.Asn202His) | |
| 3 | g.24143542T= | CA1351830697 | THRB | c.697A= (p.Asn233=) c.*1326A= (n.*1326A=) c.742A= (p.Asn248=) c.604A= (p.Asn202=) | |
| 3 | g.24143543G>A | CA432839134 | THRB | c.696C>T (p.Thr232=) c.*1325C>T (n.*1325C>T) c.741C>T (p.Thr247=) c.603C>T (p.Thr201=) | |
| 3 | g.24143543G>C | CA432839135 | THRB | c.696C>G (p.Thr232=) c.*1325C>G (n.*1325C>G) c.741C>G (p.Thr247=) c.603C>G (p.Thr201=) | |
| 3 | g.24143543G>T | CA432839136 | THRB | c.696C>A (p.Thr232=) c.*1325C>A (n.*1325C>A) c.741C>A (p.Thr247=) c.603C>A (p.Thr201=) | |
| 3 | g.24143546_24143563dup | CA658683301 | THRB | c.679_696dup (p.Thr232_Asn233insGluAlaHisValAlaThr) c.*1308_*1325dup (n.*1308_*1325dup) c.724_741dup (p.Thr247_Asn248insGluAlaHisValAlaThr) c.586_603dup (p.Thr201_Asn202insGluAlaHisValAlaThr) | ClinVar dbSNP |
| 3 | g.24143544G>A | CA351891402 | THRB | c.695C>T (p.Thr232Ile) c.*1324C>T (n.*1324C>T) c.740C>T (p.Thr247Ile) c.602C>T (p.Thr201Ile) | |
| 3 | g.24143544G>C | CA351891404 | THRB | c.695C>G (p.Thr232Ser) c.*1324C>G (n.*1324C>G) c.740C>G (p.Thr247Ser) c.602C>G (p.Thr201Ser) | |
| 3 | g.24143544G>T | CA351891403 | THRB | c.695C>A (p.Thr232Asn) c.*1324C>A (n.*1324C>A) c.740C>A (p.Thr247Asn) c.602C>A (p.Thr201Asn) | |
| 3 | g.24143545T>A | CA351891405 | THRB | c.694A>T (p.Thr232Ser) c.*1323A>T (n.*1323A>T) c.739A>T (p.Thr247Ser) c.601A>T (p.Thr201Ser) | |
| 3 | g.24143545T>C | CA351891407 | THRB | c.694A>G (p.Thr232Ala) c.*1323A>G (n.*1323A>G) c.739A>G (p.Thr247Ala) c.601A>G (p.Thr201Ala) | |
| 3 | g.24143545T>G | CA351891406 | THRB | c.694A>C (p.Thr232Pro) c.*1323A>C (n.*1323A>C) c.739A>C (p.Thr247Pro) c.601A>C (p.Thr201Pro) | |
| 3 | g.24143546C>A | CA432839137 | THRB | c.693G>T (p.Ala231=) c.*1322G>T (n.*1322G>T) c.738G>T (p.Ala246=) c.600G>T (p.Ala200=) | gnomAD v4 |
| 3 | g.24143546C= | CA1351830698 | THRB | c.693G= (p.Ala231=) c.*1322G= (n.*1322G=) c.738G= (p.Ala246=) c.600G= (p.Ala200=) | |
| 3 | g.24143546C>G | CA432839138 | THRB | c.693G>C (p.Ala231=) c.*1322G>C (n.*1322G>C) c.738G>C (p.Ala246=) c.600G>C (p.Ala200=) | |
| 3 | g.24143546C>T | CA2287198 | THRB | c.693G>A (p.Ala231=) c.*1322G>A (n.*1322G>A) c.738G>A (p.Ala246=) c.600G>A (p.Ala200=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.24143547G>A | CA2287199 | THRB | c.692C>T (p.Ala231Val) c.*1321C>T (n.*1321C>T) c.737C>T (p.Ala246Val) c.599C>T (p.Ala200Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.24143547G>C | CA351891408 | THRB | c.692C>G (p.Ala231Gly) c.*1321C>G (n.*1321C>G) c.737C>G (p.Ala246Gly) c.599C>G (p.Ala200Gly) | |
| 3 | g.24143547G= | CA1351830699 | THRB | c.692C= (p.Ala231=) c.*1321C= (n.*1321C=) c.737C= (p.Ala246=) c.599C= (p.Ala200=) | |
| 3 | g.24143547G>T | CA351891409 | THRB | c.692C>A (p.Ala231Glu) c.*1321C>A (n.*1321C>A) c.737C>A (p.Ala246Glu) c.599C>A (p.Ala200Glu) | |
| 3 | g.24143548C>A | CA351891410 | THRB | c.691G>T (p.Ala231Ser) c.*1320G>T (n.*1320G>T) c.736G>T (p.Ala246Ser) c.598G>T (p.Ala200Ser) | |
| 3 | g.24143548C>G | CA351891411 | THRB | c.691G>C (p.Ala231Pro) c.*1320G>C (n.*1320G>C) c.736G>C (p.Ala246Pro) c.598G>C (p.Ala200Pro) | |
| 3 | g.24143548C>T | CA351891412 | THRB | c.691G>A (p.Ala231Thr) c.*1320G>A (n.*1320G>A) c.736G>A (p.Ala246Thr) c.598G>A (p.Ala200Thr) | |
| 3 | g.24143549C>A | CA432839139 | THRB | c.690G>T (p.Val230=) c.*1319G>T (n.*1319G>T) c.735G>T (p.Val245=) c.597G>T (p.Val199=) | |
| 3 | g.24143549C= | CA1351830700 | THRB | c.690G= (p.Val230=) c.*1319G= (n.*1319G=) c.735G= (p.Val245=) c.597G= (p.Val199=) | |
| 3 | g.24143549C>G | CA432839140 | THRB | c.690G>C (p.Val230=) c.*1319G>C (n.*1319G>C) c.735G>C (p.Val245=) c.597G>C (p.Val199=) | |
| 3 | g.24143549C>T | CA432839141 | THRB | c.690G>A (p.Val230=) c.*1319G>A (n.*1319G>A) c.735G>A (p.Val245=) c.597G>A (p.Val199=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24143550A>C | CA351891413 | THRB | c.689T>G (p.Val230Gly) c.*1318T>G (n.*1318T>G) c.734T>G (p.Val245Gly) c.596T>G (p.Val199Gly) | |
| 3 | g.24143550A>G | CA351891414 | THRB | c.689T>C (p.Val230Ala) c.*1318T>C (n.*1318T>C) c.734T>C (p.Val245Ala) c.596T>C (p.Val199Ala) | |
| 3 | g.24143550A>T | CA351891415 | THRB | c.689T>A (p.Val230Glu) c.*1318T>A (n.*1318T>A) c.734T>A (p.Val245Glu) c.596T>A (p.Val199Glu) | |
| 3 | g.24143551C>A | CA351891416 | THRB | c.688G>T (p.Val230Leu) c.*1317G>T (n.*1317G>T) c.733G>T (p.Val245Leu) c.595G>T (p.Val199Leu) | |
| 3 | g.24143551C>G | CA351891417 | THRB | c.688G>C (p.Val230Leu) c.*1317G>C (n.*1317G>C) c.733G>C (p.Val245Leu) c.595G>C (p.Val199Leu) | gnomAD v4 |
| 3 | g.24143551C>T | CA351891418 | THRB | c.688G>A (p.Val230Met) c.*1317G>A (n.*1317G>A) c.733G>A (p.Val245Met) c.595G>A (p.Val199Met) | gnomAD v4 |
| 3 | g.24143552A= | CA1351830701 | THRB | c.687T= (p.His229=) c.*1316T= (n.*1316T=) c.732T= (p.His244=) c.594T= (p.His198=) | |
| 3 | g.24143552A>C | CA351891419 | THRB | c.687T>G (p.His229Gln) c.*1316T>G (n.*1316T>G) c.732T>G (p.His244Gln) c.594T>G (p.His198Gln) | |
| 3 | g.24143552A>G | CA2287200 | THRB | c.687T>C (p.His229=) c.*1316T>C (n.*1316T>C) c.732T>C (p.His244=) c.594T>C (p.His198=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.24143552A>T | CA351891420 | THRB | c.687T>A (p.His229Gln) c.*1316T>A (n.*1316T>A) c.732T>A (p.His244Gln) c.594T>A (p.His198Gln) | |
| 3 | g.24143553T>A | CA351891423 | THRB | c.686A>T (p.His229Leu) c.*1315A>T (n.*1315A>T) c.731A>T (p.His244Leu) c.593A>T (p.His198Leu) | |
| 3 | g.24143553T>C | CA351891421 | THRB | c.686A>G (p.His229Arg) c.*1315A>G (n.*1315A>G) c.731A>G (p.His244Arg) c.593A>G (p.His198Arg) | |
| 3 | g.24143553T>G | CA351891422 | THRB | c.686A>C (p.His229Pro) c.*1315A>C (n.*1315A>C) c.731A>C (p.His244Pro) c.593A>C (p.His198Pro) | |
| 3 | g.24143554G>A | CA351891424 | THRB | c.685C>T (p.His229Tyr) c.*1314C>T (n.*1314C>T) c.730C>T (p.His244Tyr) c.592C>T (p.His198Tyr) | gnomAD v4 |
| 3 | g.24143554G>C | CA351891425 | THRB | c.685C>G (p.His229Asp) c.*1314C>G (n.*1314C>G) c.730C>G (p.His244Asp) c.592C>G (p.His198Asp) | |
| 3 | g.24143554G>T | CA351891426 | THRB | c.685C>A (p.His229Asn) c.*1314C>A (n.*1314C>A) c.730C>A (p.His244Asn) c.592C>A (p.His198Asn) | |
| 3 | g.24143555G>A | CA432839143 | THRB | c.684C>T (p.Ala228=) c.*1313C>T (n.*1313C>T) c.729C>T (p.Ala243=) c.591C>T (p.Ala197=) | COSMIC |
| 3 | g.24143555G>C | CA432839144 | THRB | c.684C>G (p.Ala228=) c.*1313C>G (n.*1313C>G) c.729C>G (p.Ala243=) c.591C>G (p.Ala197=) | |
| 3 | g.24143555G>T | CA432839145 | THRB | c.684C>A (p.Ala228=) c.*1313C>A (n.*1313C>A) c.729C>A (p.Ala243=) c.591C>A (p.Ala197=) | |
| 3 | g.24143556G>A | CA351891427 | THRB | c.683C>T (p.Ala228Val) c.*1312C>T (n.*1312C>T) c.728C>T (p.Ala243Val) c.590C>T (p.Ala197Val) | gnomAD v4 |
| 3 | g.24143556G>C | CA351891428 | THRB | c.683C>G (p.Ala228Gly) c.*1312C>G (n.*1312C>G) c.728C>G (p.Ala243Gly) c.590C>G (p.Ala197Gly) | |
| 3 | g.24143556G>T | CA351891429 | THRB | c.683C>A (p.Ala228Asp) c.*1312C>A (n.*1312C>A) c.728C>A (p.Ala243Asp) c.590C>A (p.Ala197Asp) | |
| 3 | g.24143557C>A | CA351891430 | THRB | c.682G>T (p.Ala228Ser) c.*1311G>T (n.*1311G>T) c.727G>T (p.Ala243Ser) c.589G>T (p.Ala197Ser) | |
| 3 | g.24143557C>G | CA351891431 | THRB | c.682G>C (p.Ala228Pro) c.*1311G>C (n.*1311G>C) c.727G>C (p.Ala243Pro) c.589G>C (p.Ala197Pro) | |
| 3 | g.24143557C>T | CA351891432 | THRB | c.682G>A (p.Ala228Thr) c.*1311G>A (n.*1311G>A) c.727G>A (p.Ala243Thr) c.589G>A (p.Ala197Thr) | |
| 3 | g.24143558T>A | CA351891433 | THRB | c.681A>T (p.Glu227Asp) c.*1310A>T (n.*1310A>T) c.726A>T (p.Glu242Asp) c.588A>T (p.Glu196Asp) | |
| 3 | g.24143558T>C | CA432839147 | THRB | c.681A>G (p.Glu227=) c.*1310A>G (n.*1310A>G) c.726A>G (p.Glu242=) c.588A>G (p.Glu196=) | |
| 3 | g.24143558T>G | CA351891434 | THRB | c.681A>C (p.Glu227Asp) c.*1310A>C (n.*1310A>C) c.726A>C (p.Glu242Asp) c.588A>C (p.Glu196Asp) | |
| 3 | g.24143559del | CA2664797535 | THRB | c.681del (p.Ala228ProfsTer28) c.*1310del (n.*1310del) c.726del (p.Ala243ProfsTer28) c.588del (p.Ala197ProfsTer28) | gnomAD v4 |
| 3 | g.24143559T>A | CA351891437 | THRB | c.680A>T (p.Glu227Val) c.*1309A>T (n.*1309A>T) c.725A>T (p.Glu242Val) c.587A>T (p.Glu196Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24143559T>C | CA351891436 | THRB | c.680A>G (p.Glu227Gly) c.*1309A>G (n.*1309A>G) c.725A>G (p.Glu242Gly) c.587A>G (p.Glu196Gly) | |
| 3 | g.24143559T>G | CA351891435 | THRB | c.680A>C (p.Glu227Ala) c.*1309A>C (n.*1309A>C) c.725A>C (p.Glu242Ala) c.587A>C (p.Glu196Ala) | |
| 3 | g.24143559T= | CA1351830702 | THRB | c.680A= (p.Glu227=) c.*1309A= (n.*1309A=) c.725A= (p.Glu242=) c.587A= (p.Glu196=) | |
| 3 | g.24143560C>A | CA351891438 | THRB | c.679G>T (p.Glu227Ter) c.*1308G>T (n.*1308G>T) c.724G>T (p.Glu242Ter) c.586G>T (p.Glu196Ter) | |
| 3 | g.24143560C= | CA1351830703 | THRB | c.679G= (p.Glu227=) c.*1308G= (n.*1308G=) c.724G= (p.Glu242=) c.586G= (p.Glu196=) | |
| 3 | g.24143560C>G | CA351891439 | THRB | c.679G>C (p.Glu227Gln) c.*1308G>C (n.*1308G>C) c.724G>C (p.Glu242Gln) c.586G>C (p.Glu196Gln) | |
| 3 | g.24143560C>T | CA351891441 | THRB | c.679G>A (p.Glu227Lys) c.*1308G>A (n.*1308G>A) c.724G>A (p.Glu242Lys) c.586G>A (p.Glu196Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.24143561G>A | CA2287201 | THRB | c.678C>T (p.Thr226=) c.*1307C>T (n.*1307C>T) c.723C>T (p.Thr241=) c.585C>T (p.Thr195=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24143561G>C | CA432839148 | THRB | c.678C>G (p.Thr226=) c.*1307C>G (n.*1307C>G) c.723C>G (p.Thr241=) c.585C>G (p.Thr195=) | |
| 3 | g.24143561G= | CA1351830704 | THRB | c.678C= (p.Thr226=) c.*1307C= (n.*1307C=) c.723C= (p.Thr241=) c.585C= (p.Thr195=) | |
| 3 | g.24143561G>T | CA432839149 | THRB | c.678C>A (p.Thr226=) c.*1307C>A (n.*1307C>A) c.723C>A (p.Thr241=) c.585C>A (p.Thr195=) | |
| 3 | g.24143562G>A | CA351891450 | THRB | c.677C>T (p.Thr226Ile) c.*1306C>T (n.*1306C>T) c.722C>T (p.Thr241Ile) c.584C>T (p.Thr195Ile) | |
| 3 | g.24143562G>C | CA351891451 | THRB | c.677C>G (p.Thr226Ser) c.*1306C>G (n.*1306C>G) c.722C>G (p.Thr241Ser) c.584C>G (p.Thr195Ser) | |
| 3 | g.24143562G>T | CA351891452 | THRB | c.677C>A (p.Thr226Asn) c.*1306C>A (n.*1306C>A) c.722C>A (p.Thr241Asn) c.584C>A (p.Thr195Asn) | |
| 3 | g.24143563T>A | CA351891453 | THRB | c.676A>T (p.Thr226Ser) c.*1305A>T (n.*1305A>T) c.721A>T (p.Thr241Ser) c.583A>T (p.Thr195Ser) | |
| 3 | g.24143563T>C | CA351891454 | THRB | c.676A>G (p.Thr226Ala) c.*1305A>G (n.*1305A>G) c.721A>G (p.Thr241Ala) c.583A>G (p.Thr195Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.24143563T>G | CA351891455 | THRB | c.676A>C (p.Thr226Pro) c.*1305A>C (n.*1305A>C) c.721A>C (p.Thr241Pro) c.583A>C (p.Thr195Pro) | |
| 3 | g.24143563T= | CA1351830705 | THRB | c.676A= (p.Thr226=) c.*1305A= (n.*1305A=) c.721A= (p.Thr241=) c.583A= (p.Thr195=) | |
| 3 | g.24143564G>A | CA432839151 | THRB | c.675C>T (p.Val225=) c.*1304C>T (n.*1304C>T) c.720C>T (p.Val240=) c.582C>T (p.Val194=) | |
| 3 | g.24143564G>C | CA432839153 | THRB | c.675C>G (p.Val225=) c.*1304C>G (n.*1304C>G) c.720C>G (p.Val240=) c.582C>G (p.Val194=) | |
| 3 | g.24143564G>T | CA432839152 | THRB | c.675C>A (p.Val225=) c.*1304C>A (n.*1304C>A) c.720C>A (p.Val240=) c.582C>A (p.Val194=) | |
| 3 | g.24143565A>C | CA351891458 | THRB | c.674T>G (p.Val225Gly) c.*1303T>G (n.*1303T>G) c.719T>G (p.Val240Gly) c.581T>G (p.Val194Gly) | |
| 3 | g.24143565A>G | CA351891460 | THRB | c.674T>C (p.Val225Ala) c.*1303T>C (n.*1303T>C) c.719T>C (p.Val240Ala) c.581T>C (p.Val194Ala) | |
| 3 | g.24143565A>T | CA351891461 | THRB | c.674T>A (p.Val225Asp) c.*1303T>A (n.*1303T>A) c.719T>A (p.Val240Asp) c.581T>A (p.Val194Asp) | |
| 3 | g.24143566C>A | CA351891467 | THRB | c.673G>T (p.Val225Phe) c.*1302G>T (n.*1302G>T) c.718G>T (p.Val240Phe) c.580G>T (p.Val194Phe) | |
| 3 | g.24143566C>G | CA351891463 | THRB | c.673G>C (p.Val225Leu) c.*1302G>C (n.*1302G>C) c.718G>C (p.Val240Leu) c.580G>C (p.Val194Leu) | |
| 3 | g.24143566C>T | CA351891465 | THRB | c.673G>A (p.Val225Ile) c.*1302G>A (n.*1302G>A) c.718G>A (p.Val240Ile) c.580G>A (p.Val194Ile) | |
| 3 | g.24143567A= | CA1351830706 | THRB | c.672T= (p.Thr224=) c.*1301T= (n.*1301T=) c.717T= (p.Thr239=) c.579T= (p.Thr193=) | |
| 3 | g.24143567A>C | CA432839155 | THRB | c.672T>G (p.Thr224=) c.*1301T>G (n.*1301T>G) c.717T>G (p.Thr239=) c.579T>G (p.Thr193=) | |
| 3 | g.24143567A>G | CA432839157 | THRB | c.672T>C (p.Thr224=) c.*1301T>C (n.*1301T>C) c.717T>C (p.Thr239=) c.579T>C (p.Thr193=) | dbSNP |
| 3 | g.24143567A>T | CA432839159 | THRB | c.672T>A (p.Thr224=) c.*1301T>A (n.*1301T>A) c.717T>A (p.Thr239=) c.579T>A (p.Thr193=) | |
| 3 | g.24143568G>A | CA351891469 | THRB | c.671C>T (p.Thr224Ile) c.*1300C>T (n.*1300C>T) c.716C>T (p.Thr239Ile) c.578C>T (p.Thr193Ile) | |
| 3 | g.24143568G>C | CA351891472 | THRB | c.671C>G (p.Thr224Ser) c.*1300C>G (n.*1300C>G) c.716C>G (p.Thr239Ser) c.578C>G (p.Thr193Ser) | |
| 3 | g.24143568G>T | CA351891474 | THRB | c.671C>A (p.Thr224Asn) c.*1300C>A (n.*1300C>A) c.716C>A (p.Thr239Asn) c.578C>A (p.Thr193Asn) | |
| 3 | g.24143569T>A | CA351891477 | THRB | c.670A>T (p.Thr224Ser) c.*1299A>T (n.*1299A>T) c.715A>T (p.Thr239Ser) c.577A>T (p.Thr193Ser) | |
| 3 | g.24143569T>C | CA351891478 | THRB | c.670A>G (p.Thr224Ala) c.*1299A>G (n.*1299A>G) c.715A>G (p.Thr239Ala) c.577A>G (p.Thr193Ala) | |
| 3 | g.24143569T>G | CA351891479 | THRB | c.670A>C (p.Thr224Pro) c.*1299A>C (n.*1299A>C) c.715A>C (p.Thr239Pro) c.577A>C (p.Thr193Pro) | |
| 3 | g.24143570T>A | CA351891482 | THRB | c.669A>T (p.Lys223Asn) c.*1298A>T (n.*1298A>T) c.714A>T (p.Lys238Asn) c.576A>T (p.Lys192Asn) | |
| 3 | g.24143570T>C | CA432839161 | THRB | c.669A>G (p.Lys223=) c.*1298A>G (n.*1298A>G) c.714A>G (p.Lys238=) c.576A>G (p.Lys192=) | |
| 3 | g.24143570T>G | CA351891484 | THRB | c.669A>C (p.Lys223Asn) c.*1298A>C (n.*1298A>C) c.714A>C (p.Lys238Asn) c.576A>C (p.Lys192Asn) | |
| 3 | g.24143571T>A | CA351891486 | THRB | c.668A>T (p.Lys223Ile) c.*1297A>T (n.*1297A>T) c.713A>T (p.Lys238Ile) c.575A>T (p.Lys192Ile) | |
| 3 | g.24143571T>C | CA351891488 | THRB | c.668A>G (p.Lys223Arg) c.*1297A>G (n.*1297A>G) c.713A>G (p.Lys238Arg) c.575A>G (p.Lys192Arg) | |
| 3 | g.24143571T>G | CA351891489 | THRB | c.668A>C (p.Lys223Thr) c.*1297A>C (n.*1297A>C) c.713A>C (p.Lys238Thr) c.575A>C (p.Lys192Thr) | |
| 3 | g.24143572T>A | CA351891496 | THRB | c.667A>T (p.Lys223Ter) c.*1296A>T (n.*1296A>T) c.712A>T (p.Lys238Ter) c.574A>T (p.Lys192Ter) | |
| 3 | g.24143572T>C | CA351891494 | THRB | c.667A>G (p.Lys223Glu) c.*1296A>G (n.*1296A>G) c.712A>G (p.Lys238Glu) c.574A>G (p.Lys192Glu) | |
| 3 | g.24143572T>G | CA351891492 | THRB | c.667A>C (p.Lys223Gln) c.*1296A>C (n.*1296A>C) c.712A>C (p.Lys238Gln) c.574A>C (p.Lys192Gln) | gnomAD v4 |
| 3 | g.24143573G>A | CA432839164 | THRB | c.666C>T (p.Ile222=) c.*1295C>T (n.*1295C>T) c.711C>T (p.Ile237=) c.573C>T (p.Ile191=) | |
| 3 | g.24143573G>C | CA351891499 | THRB | c.666C>G (p.Ile222Met) c.*1295C>G (n.*1295C>G) c.711C>G (p.Ile237Met) c.573C>G (p.Ile191Met) | COSMIC |
| 3 | g.24143573G>T | CA432839163 | THRB | c.666C>A (p.Ile222=) c.*1295C>A (n.*1295C>A) c.711C>A (p.Ile237=) c.573C>A (p.Ile191=) | |
| 3 | g.24143574A= | CA1351830707 | THRB | c.665T= (p.Ile222=) c.*1294T= (n.*1294T=) c.710T= (p.Ile237=) c.572T= (p.Ile191=) | |
| 3 | g.24143574A>C | CA351891507 | THRB | c.665T>G (p.Ile222Ser) c.*1294T>G (n.*1294T>G) c.710T>G (p.Ile237Ser) c.572T>G (p.Ile191Ser) | |
| 3 | g.24143574A>G | CA351891501 | THRB | c.665T>C (p.Ile222Thr) c.*1294T>C (n.*1294T>C) c.710T>C (p.Ile237Thr) c.572T>C (p.Ile191Thr) | dbSNP |
| 3 | g.24143574A>T | CA351891503 | THRB | c.665T>A (p.Ile222Asn) c.*1294T>A (n.*1294T>A) c.710T>A (p.Ile237Asn) c.572T>A (p.Ile191Asn) | |
| 3 | g.24143575T>A | CA351891510 | THRB | c.664A>T (p.Ile222Phe) c.*1293A>T (n.*1293A>T) c.709A>T (p.Ile237Phe) c.571A>T (p.Ile191Phe) | |
| 3 | g.24143575T>C | CA351891512 | THRB | c.664A>G (p.Ile222Val) c.*1293A>G (n.*1293A>G) c.709A>G (p.Ile237Val) c.571A>G (p.Ile191Val) | COSMIC |
| 3 | g.24143575T>G | CA351891514 | THRB | c.664A>C (p.Ile222Leu) c.*1293A>C (n.*1293A>C) c.709A>C (p.Ile237Leu) c.571A>C (p.Ile191Leu) | gnomAD v4 |
| 3 | g.24143576G>A | CA432839165 | THRB | c.663C>T (p.Leu221=) c.*1292C>T (n.*1292C>T) c.708C>T (p.Leu236=) c.570C>T (p.Leu190=) | |
| 3 | g.24143576G>C | CA432839166 | THRB | c.663C>G (p.Leu221=) c.*1292C>G (n.*1292C>G) c.708C>G (p.Leu236=) c.570C>G (p.Leu190=) | |
| 3 | g.24143576G>T | CA432839167 | THRB | c.663C>A (p.Leu221=) c.*1292C>A (n.*1292C>A) c.708C>A (p.Leu236=) c.570C>A (p.Leu190=) | |
| 3 | g.24143577A>C | CA351891516 | THRB | c.662T>G (p.Leu221Arg) c.*1291T>G (n.*1291T>G) c.707T>G (p.Leu236Arg) c.569T>G (p.Leu190Arg) | |
| 3 | g.24143577A>G | CA351891518 | THRB | c.662T>C (p.Leu221Pro) c.*1291T>C (n.*1291T>C) c.707T>C (p.Leu236Pro) c.569T>C (p.Leu190Pro) | |
| 3 | g.24143577A>T | CA351891520 | THRB | c.662T>A (p.Leu221His) c.*1291T>A (n.*1291T>A) c.707T>A (p.Leu236His) c.569T>A (p.Leu190His) | |
| 3 | g.24143578G>A | CA351891522 | THRB | c.661C>T (p.Leu221Phe) c.*1290C>T (n.*1290C>T) c.706C>T (p.Leu236Phe) c.568C>T (p.Leu190Phe) | gnomAD v4 |
| 3 | g.24143578G>C | CA351891524 | THRB | c.661C>G (p.Leu221Val) c.*1290C>G (n.*1290C>G) c.706C>G (p.Leu236Val) c.568C>G (p.Leu190Val) | dbSNP |
| 3 | g.24143578G= | CA1351830708 | THRB | c.661C= (p.Leu221=) c.*1290C= (n.*1290C=) c.706C= (p.Leu236=) c.568C= (p.Leu190=) | |
| 3 | g.24143578G>T | CA351891526 | THRB | c.661C>A (p.Leu221Ile) c.*1290C>A (n.*1290C>A) c.706C>A (p.Leu236Ile) c.568C>A (p.Leu190Ile) | |
| 3 | g.24143579C>A | CA351891530 | THRB | c.660G>T (p.Glu220Asp) c.*1289G>T (n.*1289G>T) c.705G>T (p.Glu235Asp) c.567G>T (p.Glu189Asp) | |
| 3 | g.24143579C>G | CA351891529 | THRB | c.660G>C (p.Glu220Asp) c.*1289G>C (n.*1289G>C) c.705G>C (p.Glu235Asp) c.567G>C (p.Glu189Asp) | gnomAD v4 |
| 3 | g.24143579C>T | CA432839171 | THRB | c.660G>A (p.Glu220=) c.*1289G>A (n.*1289G>A) c.705G>A (p.Glu235=) c.567G>A (p.Glu189=) | |
| 3 | g.24143580T>A | CA351891534 | THRB | c.659A>T (p.Glu220Val) c.*1288A>T (n.*1288A>T) c.704A>T (p.Glu235Val) c.566A>T (p.Glu189Val) | |
| 3 | g.24143580T>C | CA351891536 | THRB | c.659A>G (p.Glu220Gly) c.*1288A>G (n.*1288A>G) c.704A>G (p.Glu235Gly) c.566A>G (p.Glu189Gly) | |
| 3 | g.24143580T>G | CA351891538 | THRB | c.659A>C (p.Glu220Ala) c.*1288A>C (n.*1288A>C) c.704A>C (p.Glu235Ala) c.566A>C (p.Glu189Ala) | |
| 3 | g.24143581C>A | CA351891541 | THRB | c.658G>T (p.Glu220Ter) c.*1287G>T (n.*1287G>T) c.703G>T (p.Glu235Ter) c.565G>T (p.Glu189Ter) | |
| 3 | g.24143581C= | CA1351830709 | THRB | c.658G= (p.Glu220=) c.*1287G= (n.*1287G=) c.703G= (p.Glu235=) c.565G= (p.Glu189=) | |
| 3 | g.24143581C>G | CA351891543 | THRB | c.658G>C (p.Glu220Gln) c.*1287G>C (n.*1287G>C) c.703G>C (p.Glu235Gln) c.565G>C (p.Glu189Gln) | |
| 3 | g.24143581C>T | CA351891546 | THRB | c.658G>A (p.Glu220Lys) c.*1287G>A (n.*1287G>A) c.703G>A (p.Glu235Lys) c.565G>A (p.Glu189Lys) | dbSNP COSMIC |
| 3 | g.24143582C>A | CA351891547 | THRB | c.657G>T (p.Trp219Cys) c.*1286G>T (n.*1286G>T) c.702G>T (p.Trp234Cys) c.564G>T (p.Trp188Cys) | |
| 3 | g.24143582C>G | CA351891548 | THRB | c.657G>C (p.Trp219Cys) c.*1286G>C (n.*1286G>C) c.702G>C (p.Trp234Cys) c.564G>C (p.Trp188Cys) | |
| 3 | g.24143582C>T | CA351891550 | THRB | c.657G>A (p.Trp219Ter) c.*1286G>A (n.*1286G>A) c.702G>A (p.Trp234Ter) c.564G>A (p.Trp188Ter) | COSMIC |
| 3 | g.24143583C>A | CA351891553 | THRB | c.656G>T (p.Trp219Leu) c.*1285G>T (n.*1285G>T) c.701G>T (p.Trp234Leu) c.563G>T (p.Trp188Leu) | |
| 3 | g.24143583C>G | CA351891554 | THRB | c.656G>C (p.Trp219Ser) c.*1285G>C (n.*1285G>C) c.701G>C (p.Trp234Ser) c.563G>C (p.Trp188Ser) | |
| 3 | g.24143583C>T | CA351891556 | THRB | c.656G>A (p.Trp219Ter) c.*1285G>A (n.*1285G>A) c.701G>A (p.Trp234Ter) c.563G>A (p.Trp188Ter) | |
| 3 | g.24143584A>C | CA351891561 | THRB | c.655T>G (p.Trp219Gly) c.*1284T>G (n.*1284T>G) c.700T>G (p.Trp234Gly) c.562T>G (p.Trp188Gly) | |
| 3 | g.24143584A>G | CA351891563 | THRB | c.655T>C (p.Trp219Arg) c.*1284T>C (n.*1284T>C) c.700T>C (p.Trp234Arg) c.562T>C (p.Trp188Arg) | |
| 3 | g.24143584A>T | CA351891559 | THRB | c.655T>A (p.Trp219Arg) c.*1284T>A (n.*1284T>A) c.700T>A (p.Trp234Arg) c.562T>A (p.Trp188Arg) | |
| 3 | g.24143585T>A | CA351891566 | THRB | c.654A>T (p.Glu218Asp) c.*1283A>T (n.*1283A>T) c.699A>T (p.Glu233Asp) c.561A>T (p.Glu187Asp) | |
| 3 | g.24143585T>C | CA432839175 | THRB | c.654A>G (p.Glu218=) c.*1283A>G (n.*1283A>G) c.699A>G (p.Glu233=) c.561A>G (p.Glu187=) | |
| 3 | g.24143585T>G | CA351891568 | THRB | c.654A>C (p.Glu218Asp) c.*1283A>C (n.*1283A>C) c.699A>C (p.Glu233Asp) c.561A>C (p.Glu187Asp) | |
| 3 | g.24143586T>A | CA351891570 | THRB | c.653A>T (p.Glu218Val) c.*1282A>T (n.*1282A>T) c.698A>T (p.Glu233Val) c.560A>T (p.Glu187Val) | |
| 3 | g.24143586T>C | CA351891572 | THRB | c.653A>G (p.Glu218Gly) c.*1282A>G (n.*1282A>G) c.698A>G (p.Glu233Gly) c.560A>G (p.Glu187Gly) | COSMIC |
| 3 | g.24143586T>G | CA351891573 | THRB | c.653A>C (p.Glu218Ala) c.*1282A>C (n.*1282A>C) c.698A>C (p.Glu233Ala) c.560A>C (p.Glu187Ala) | |
| 3 | g.24143587C>A | CA351891576 | THRB | c.652G>T (p.Glu218Ter) c.*1281G>T (n.*1281G>T) c.697G>T (p.Glu233Ter) c.559G>T (p.Glu187Ter) | |
| 3 | g.24143587C>G | CA351891578 | THRB | c.652G>C (p.Glu218Gln) c.*1281G>C (n.*1281G>C) c.697G>C (p.Glu233Gln) c.559G>C (p.Glu187Gln) | |
| 3 | g.24143587C>T | CA351891579 | THRB | c.652G>A (p.Glu218Lys) c.*1281G>A (n.*1281G>A) c.697G>A (p.Glu233Lys) c.559G>A (p.Glu187Lys) | |
| 3 | g.24143588C>A | CA351891581 | THRB | c.651G>T (p.Glu217Asp) c.*1280G>T (n.*1280G>T) c.696G>T (p.Glu232Asp) c.558G>T (p.Glu186Asp) | |
| 3 | g.24143588C>G | CA351891583 | THRB | c.651G>C (p.Glu217Asp) c.*1280G>C (n.*1280G>C) c.696G>C (p.Glu232Asp) c.558G>C (p.Glu186Asp) | |
| 3 | g.24143588C>T | CA432839179 | THRB | c.651G>A (p.Glu217=) c.*1280G>A (n.*1280G>A) c.696G>A (p.Glu232=) c.558G>A (p.Glu186=) | |
| 3 | g.24143589T>A | CA351891585 | THRB | c.650A>T (p.Glu217Val) c.*1279A>T (n.*1279A>T) c.695A>T (p.Glu232Val) c.557A>T (p.Glu186Val) | |
| 3 | g.24143589T>C | CA351891586 | THRB | c.650A>G (p.Glu217Gly) c.*1279A>G (n.*1279A>G) c.695A>G (p.Glu232Gly) c.557A>G (p.Glu186Gly) | |
| 3 | g.24143589T>G | CA351891588 | THRB | c.650A>C (p.Glu217Ala) c.*1279A>C (n.*1279A>C) c.695A>C (p.Glu232Ala) c.557A>C (p.Glu186Ala) | |
| 3 | g.24143590C>A | CA351891595 | THRB | c.649G>T (p.Glu217Ter) c.*1278G>T (n.*1278G>T) c.694G>T (p.Glu232Ter) c.556G>T (p.Glu186Ter) | |
| 3 | g.24143590C= | CA1351830710 | THRB | c.649G= (p.Glu217=) c.*1278G= (n.*1278G=) c.694G= (p.Glu232=) c.556G= (p.Glu186=) | |
| 3 | g.24143590C>G | CA351891593 | THRB | c.649G>C (p.Glu217Gln) c.*1278G>C (n.*1278G>C) c.694G>C (p.Glu232Gln) c.556G>C (p.Glu186Gln) | |
| 3 | g.24143590C>T | CA2287202 | THRB | c.649G>A (p.Glu217Lys) c.*1278G>A (n.*1278G>A) c.694G>A (p.Glu232Lys) c.556G>A (p.Glu186Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.24143591G>A | CA2287203 | THRB | c.648C>T (p.Asp216=) c.*1277C>T (n.*1277C>T) c.693C>T (p.Asp231=) c.555C>T (p.Asp185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.24143591G>C | CA2287204 | THRB | c.648C>G (p.Asp216Glu) c.*1277C>G (n.*1277C>G) c.693C>G (p.Asp231Glu) c.555C>G (p.Asp185Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24143591G= | CA1351830711 | THRB | c.648C= (p.Asp216=) c.*1277C= (n.*1277C=) c.693C= (p.Asp231=) c.555C= (p.Asp185=) | |
| 3 | g.24143591G>T | CA351891601 | THRB | c.648C>A (p.Asp216Glu) c.*1277C>A (n.*1277C>A) c.693C>A (p.Asp231Glu) c.555C>A (p.Asp185Glu) | |
| 3 | g.24143592T>A | CA351891603 | THRB | c.647A>T (p.Asp216Val) c.*1276A>T (n.*1276A>T) c.692A>T (p.Asp231Val) c.554A>T (p.Asp185Val) | gnomAD v4 |
| 3 | g.24143592T>C | CA2287205 | THRB | c.647A>G (p.Asp216Gly) c.*1276A>G (n.*1276A>G) c.692A>G (p.Asp231Gly) c.554A>G (p.Asp185Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24143592T>G | CA351891606 | THRB | c.647A>C (p.Asp216Ala) c.*1276A>C (n.*1276A>C) c.692A>C (p.Asp231Ala) c.554A>C (p.Asp185Ala) | |
| 3 | g.24143592T= | CA1351830712 | THRB | c.647A= (p.Asp216=) c.*1276A= (n.*1276A=) c.692A= (p.Asp231=) c.554A= (p.Asp185=) | |
| 3 | g.24143593C>A | CA351891608 | THRB | c.646G>T (p.Asp216Tyr) c.*1275G>T (n.*1275G>T) c.691G>T (p.Asp231Tyr) c.553G>T (p.Asp185Tyr) | |
| 3 | g.24143593C= | CA1351830713 | THRB | c.646G= (p.Asp216=) c.*1275G= (n.*1275G=) c.691G= (p.Asp231=) c.553G= (p.Asp185=) | |
| 3 | g.24143593C>G | CA351891610 | THRB | c.646G>C (p.Asp216His) c.*1275G>C (n.*1275G>C) c.691G>C (p.Asp231His) c.553G>C (p.Asp185His) | |
| 3 | g.24143593C>T | CA351891611 | THRB | c.646G>A (p.Asp216Asn) c.*1275G>A (n.*1275G>A) c.691G>A (p.Asp231Asn) c.553G>A (p.Asp185Asn) | dbSNP |
| 3 | g.24143594T>A | CA432839181 | THRB | c.645A>T (p.Thr215=) c.*1274A>T (n.*1274A>T) c.690A>T (p.Thr230=) c.552A>T (p.Thr184=) | |
| 3 | g.24143594T>C | CA432839183 | THRB | c.645A>G (p.Thr215=) c.*1274A>G (n.*1274A>G) c.690A>G (p.Thr230=) c.552A>G (p.Thr184=) | |
| 3 | g.24143594T>G | CA432839182 | THRB | c.645A>C (p.Thr215=) c.*1274A>C (n.*1274A>C) c.690A>C (p.Thr230=) c.552A>C (p.Thr184=) | |
| 3 | g.24143595G>A | CA351891613 | THRB | c.644C>T (p.Thr215Ile) c.*1273C>T (n.*1273C>T) c.689C>T (p.Thr230Ile) c.551C>T (p.Thr184Ile) | gnomAD v4 |
| 3 | g.24143595G>C | CA351891614 | THRB | c.644C>G (p.Thr215Arg) c.*1273C>G (n.*1273C>G) c.689C>G (p.Thr230Arg) c.551C>G (p.Thr184Arg) | |
| 3 | g.24143595G>T | CA351891616 | THRB | c.644C>A (p.Thr215Lys) c.*1273C>A (n.*1273C>A) c.689C>A (p.Thr230Lys) c.551C>A (p.Thr184Lys) | |
| 3 | g.24143596T>A | CA351891622 | THRB | c.643A>T (p.Thr215Ser) c.*1272A>T (n.*1272A>T) c.688A>T (p.Thr230Ser) c.550A>T (p.Thr184Ser) | |
| 3 | g.24143596T>C | CA351891620 | THRB | c.643A>G (p.Thr215Ala) c.*1272A>G (n.*1272A>G) c.688A>G (p.Thr230Ala) c.550A>G (p.Thr184Ala) | gnomAD v4 |
| 3 | g.24143596T>G | CA351891618 | THRB | c.643A>C (p.Thr215Pro) c.*1272A>C (n.*1272A>C) c.688A>C (p.Thr230Pro) c.550A>C (p.Thr184Pro) | |
| 3 | g.24143597G>A | CA432839184 | THRB | c.642C>T (p.Pro214=) c.*1271C>T (n.*1271C>T) c.687C>T (p.Pro229=) c.549C>T (p.Pro183=) | |
| 3 | g.24143597G>C | CA432839185 | THRB | c.642C>G (p.Pro214=) c.*1271C>G (n.*1271C>G) c.687C>G (p.Pro229=) c.549C>G (p.Pro183=) | |
| 3 | g.24143597G>T | CA432839186 | THRB | c.642C>A (p.Pro214=) c.*1271C>A (n.*1271C>A) c.687C>A (p.Pro229=) c.549C>A (p.Pro183=) | |
| 3 | g.24143598G>A | CA351891625 | THRB | c.641C>T (p.Pro214Leu) c.*1270C>T (n.*1270C>T) c.686C>T (p.Pro229Leu) c.548C>T (p.Pro183Leu) | |
| 3 | g.24143598G>C | CA351891628 | THRB | c.641C>G (p.Pro214Arg) c.*1270C>G (n.*1270C>G) c.686C>G (p.Pro229Arg) c.548C>G (p.Pro183Arg) | |
| 3 | g.24143598G>T | CA351891627 | THRB | c.641C>A (p.Pro214His) c.*1270C>A (n.*1270C>A) c.686C>A (p.Pro229His) c.548C>A (p.Pro183His) | |
| 3 | g.24143599G>A | CA351891630 | THRB | c.640C>T (p.Pro214Ser) c.*1269C>T (n.*1269C>T) c.685C>T (p.Pro229Ser) c.547C>T (p.Pro183Ser) | |
| 3 | g.24143599G>C | CA351891634 | THRB | c.640C>G (p.Pro214Ala) c.*1269C>G (n.*1269C>G) c.685C>G (p.Pro229Ala) c.547C>G (p.Pro183Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24143599G= | CA1351830714 | THRB | c.640C= (p.Pro214=) c.*1269C= (n.*1269C=) c.685C= (p.Pro229=) c.547C= (p.Pro183=) | |
| 3 | g.24143599G>T | CA351891632 | THRB | c.640C>A (p.Pro214Thr) c.*1269C>A (n.*1269C>A) c.685C>A (p.Pro229Thr) c.547C>A (p.Pro183Thr) | |
| 3 | g.24143600C>A | CA351891636 | THRB | c.639G>T (p.Glu213Asp) c.*1268G>T (n.*1268G>T) c.684G>T (p.Glu228Asp) c.546G>T (p.Glu182Asp) | dbSNP gnomAD v4 |
| 3 | g.24143600C= | CA1351830715 | THRB | c.639G= (p.Glu213=) c.*1268G= (n.*1268G=) c.684G= (p.Glu228=) c.546G= (p.Glu182=) | |
| 3 | g.24143600C>G | CA351891637 | THRB | c.639G>C (p.Glu213Asp) c.*1268G>C (n.*1268G>C) c.684G>C (p.Glu228Asp) c.546G>C (p.Glu182Asp) | gnomAD v4 |
| 3 | g.24143600C>T | CA2287206 | THRB | c.639G>A (p.Glu213=) c.*1268G>A (n.*1268G>A) c.684G>A (p.Glu228=) c.546G>A (p.Glu182=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.24143601T>A | CA351891640 | THRB | c.638A>T (p.Glu213Val) c.*1267A>T (n.*1267A>T) c.683A>T (p.Glu228Val) c.545A>T (p.Glu182Val) | |
| 3 | g.24143601T>C | CA351891642 | THRB | c.638A>G (p.Glu213Gly) c.*1267A>G (n.*1267A>G) c.683A>G (p.Glu228Gly) c.545A>G (p.Glu182Gly) | |
| 3 | g.24143601T>G | CA351891643 | THRB | c.638A>C (p.Glu213Ala) c.*1267A>C (n.*1267A>C) c.683A>C (p.Glu228Ala) c.545A>C (p.Glu182Ala) | |
| 3 | g.24143602C>A | CA351891646 | THRB | c.637G>T (p.Glu213Ter) c.*1266G>T (n.*1266G>T) c.682G>T (p.Glu228Ter) c.544G>T (p.Glu182Ter) | |
| 3 | g.24143602C>G | CA351891647 | THRB | c.637G>C (p.Glu213Gln) c.*1266G>C (n.*1266G>C) c.682G>C (p.Glu228Gln) c.544G>C (p.Glu182Gln) | |
| 3 | g.24143602C>T | CA351891649 | THRB | c.637G>A (p.Glu213Lys) c.*1266G>A (n.*1266G>A) c.682G>A (p.Glu228Lys) c.544G>A (p.Glu182Lys) | gnomAD v4 |
| 3 | g.24143603T>A | CA432839188 | THRB | c.636A>T (p.Pro212=) c.*1265A>T (n.*1265A>T) c.681A>T (p.Pro227=) c.543A>T (p.Pro181=) | |
| 3 | g.24143603T>C | CA432839190 | THRB | c.636A>G (p.Pro212=) c.*1265A>G (n.*1265A>G) c.681A>G (p.Pro227=) c.543A>G (p.Pro181=) | gnomAD v4 |
| 3 | g.24143603T>G | CA432839191 | THRB | c.636A>C (p.Pro212=) c.*1265A>C (n.*1265A>C) c.681A>C (p.Pro227=) c.543A>C (p.Pro181=) | |
| 3 | g.24143604G>A | CA351891651 | THRB | c.635C>T (p.Pro212Leu) c.*1264C>T (n.*1264C>T) c.680C>T (p.Pro227Leu) c.542C>T (p.Pro181Leu) | |
| 3 | g.24143604G>C | CA2287207 | THRB | c.635C>G (p.Pro212Arg) c.*1264C>G (n.*1264C>G) c.680C>G (p.Pro227Arg) c.542C>G (p.Pro181Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.24143604G= | CA1351830716 | THRB | c.635C= (p.Pro212=) c.*1264C= (n.*1264C=) c.680C= (p.Pro227=) c.542C= (p.Pro181=) | |
| 3 | g.24143604G>T | CA351891654 | THRB | c.635C>A (p.Pro212Gln) c.*1264C>A (n.*1264C>A) c.680C>A (p.Pro227Gln) c.542C>A (p.Pro181Gln) | |
| 3 | g.24143605G>A | CA351891661 | THRB | c.634C>T (p.Pro212Ser) c.*1263C>T (n.*1263C>T) c.679C>T (p.Pro227Ser) c.541C>T (p.Pro181Ser) | |
| 3 | g.24143605G>C | CA351891656 | THRB | c.634C>G (p.Pro212Ala) c.*1263C>G (n.*1263C>G) c.679C>G (p.Pro227Ala) c.541C>G (p.Pro181Ala) | |
| 3 | g.24143605G>T | CA351891659 | THRB | c.634C>A (p.Pro212Thr) c.*1263C>A (n.*1263C>A) c.679C>A (p.Pro227Thr) c.541C>A (p.Pro181Thr) | gnomAD v4 |
| 3 | g.24143606C>A | CA351891664 | THRB | c.633G>T (p.Lys211Asn) c.*1262G>T (n.*1262G>T) c.678G>T (p.Lys226Asn) c.540G>T (p.Lys180Asn) | |
| 3 | g.24143606C>G | CA351891665 | THRB | c.633G>C (p.Lys211Asn) c.*1262G>C (n.*1262G>C) c.678G>C (p.Lys226Asn) c.540G>C (p.Lys180Asn) | |
| 3 | g.24143606C>T | CA432839192 | THRB | c.633G>A (p.Lys211=) c.*1262G>A (n.*1262G>A) c.678G>A (p.Lys226=) c.540G>A (p.Lys180=) | |
| 3 | g.24143607T>A | CA351891668 | THRB | c.632A>T (p.Lys211Met) c.*1261A>T (n.*1261A>T) c.677A>T (p.Lys226Met) c.539A>T (p.Lys180Met) | |
| 3 | g.24143607T>C | CA351891670 | THRB | c.632A>G (p.Lys211Arg) c.*1261A>G (n.*1261A>G) c.677A>G (p.Lys226Arg) c.539A>G (p.Lys180Arg) | |
| 3 | g.24143607T>G | CA351891671 | THRB | c.632A>C (p.Lys211Thr) c.*1261A>C (n.*1261A>C) c.677A>C (p.Lys226Thr) c.539A>C (p.Lys180Thr) | |
| 3 | g.24143608T>A | CA351891673 | THRB | c.631A>T (p.Lys211Ter) c.*1260A>T (n.*1260A>T) c.676A>T (p.Lys226Ter) c.538A>T (p.Lys180Ter) | |
| 3 | g.24143608T>C | CA351891674 | THRB | c.631A>G (p.Lys211Glu) c.*1260A>G (n.*1260A>G) c.676A>G (p.Lys226Glu) c.538A>G (p.Lys180Glu) | |
| 3 | g.24143608T>G | CA351891676 | THRB | c.631A>C (p.Lys211Gln) c.*1260A>C (n.*1260A>C) c.676A>C (p.Lys226Gln) c.538A>C (p.Lys180Gln) | |
| 3 | g.24143609G>A | CA432839193 | THRB | c.630C>T (p.His210=) c.*1259C>T (n.*1259C>T) c.675C>T (p.His225=) c.537C>T (p.His179=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.24143609G>C | CA351891678 | THRB | c.630C>G (p.His210Gln) c.*1259C>G (n.*1259C>G) c.675C>G (p.His225Gln) c.537C>G (p.His179Gln) | |
| 3 | g.24143609G= | CA1351830717 | THRB | c.630C= (p.His210=) c.*1259C= (n.*1259C=) c.675C= (p.His225=) c.537C= (p.His179=) | |
| 3 | g.24143609G>T | CA351891680 | THRB | c.630C>A (p.His210Gln) c.*1259C>A (n.*1259C>A) c.675C>A (p.His225Gln) c.537C>A (p.His179Gln) | |
| 3 | g.24143610T>A | CA351891687 | THRB | c.629A>T (p.His210Leu) c.*1258A>T (n.*1258A>T) c.674A>T (p.His225Leu) c.536A>T (p.His179Leu) | dbSNP |
| 3 | g.24143610T>C | CA351891685 | THRB | c.629A>G (p.His210Arg) c.*1258A>G (n.*1258A>G) c.674A>G (p.His225Arg) c.536A>G (p.His179Arg) | |
| 3 | g.24143610T>G | CA351891682 | THRB | c.629A>C (p.His210Pro) c.*1258A>C (n.*1258A>C) c.674A>C (p.His225Pro) c.536A>C (p.His179Pro) | |
| 3 | g.24143610T= | CA1351830718 | THRB | c.629A= (p.His210=) c.*1258A= (n.*1258A=) c.674A= (p.His225=) c.536A= (p.His179=) | |
| 3 | g.24143611G>A | CA351891689 | THRB | c.628C>T (p.His210Tyr) c.*1257C>T (n.*1257C>T) c.673C>T (p.His225Tyr) c.535C>T (p.His179Tyr) | dbSNP gnomAD v2 |
| 3 | g.24143611G>C | CA351891690 | THRB | c.628C>G (p.His210Asp) c.*1257C>G (n.*1257C>G) c.673C>G (p.His225Asp) c.535C>G (p.His179Asp) | |
| 3 | g.24143611G= | CA1351830720 | THRB | c.628C= (p.His210=) c.*1257C= (n.*1257C=) c.673C= (p.His225=) c.535C= (p.His179=) | |
| 3 | g.24143611G>T | CA351891692 | THRB | c.628C>A (p.His210Asn) c.*1257C>A (n.*1257C>A) c.673C>A (p.His225Asn) c.535C>A (p.His179Asn) | |
| 3 | g.24143611_24143612delinsGC | CA1351830719 | THRB | c.627_628delinsGC (p.Gly209=) c.*1256_*1257delinsGC (n.*1256_*1257delinsGC) c.672_673delinsGC (p.Gly224=) c.534_535delinsGC (p.Gly178=) |