20 | g.23047989T>A | CA408405367 | THBD | c.1516A>T (p.Thr506Ser)
| |
20 | g.23047989T>C | CA408405366 | THBD | c.1516A>G (p.Thr506Ala)
| |
20 | g.23047989T>G | CA408405365 | THBD | c.1516A>C (p.Thr506Pro)
| |
20 | g.23047990C>A | CA408405368 | THBD | c.1515G>T (p.Leu505Phe)
| gnomAD v4 |
20 | g.23047990C>G | CA408405369 | THBD | c.1515G>C (p.Leu505Phe)
| |
20 | g.23047990C>T | CA510160215 | THBD | c.1515G>A (p.Leu505=)
| gnomAD v4 |
20 | g.23047991A= | CA2355680840 | THBD | c.1514T= (p.Leu505=)
| |
20 | g.23047991A>C | CA408405370 | THBD | c.1514T>G (p.Leu505Trp)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23047991A>G | CA408405371 | THBD | c.1514T>C (p.Leu505Ser)
| |
20 | g.23047991A>T | CA408405372 | THBD | c.1514T>A (p.Leu505Ter)
| |
20 | g.23047992A>C | CA408405373 | THBD | c.1513T>G (p.Leu505Val)
| |
20 | g.23047992A>G | CA510160217 | THBD | c.1513T>C (p.Leu505=)
| |
20 | g.23047992A>T | CA408405374 | THBD | c.1513T>A (p.Leu505Met)
| |
20 | g.23047993G>A | CA510160222 | THBD | c.1512C>T (p.Thr504=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23047993G>C | CA510160221 | THBD | c.1512C>G (p.Thr504=)
| |
20 | g.23047993G= | CA2355680841 | THBD | c.1512C= (p.Thr504=)
| |
20 | g.23047993G>T | CA510160220 | THBD | c.1512C>A (p.Thr504=)
| gnomAD v4 |
20 | g.23047994G>A | CA408405375 | THBD | c.1511C>T (p.Thr504Ile)
| |
20 | g.23047994G>C | CA408405376 | THBD | c.1511C>G (p.Thr504Ser)
| |
20 | g.23047994G= | CA2355680842 | THBD | c.1511C= (p.Thr504=)
| |
20 | g.23047994G>T | CA9787540 | THBD | c.1511C>A (p.Thr504Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23047995T>A | CA408405377 | THBD | c.1510A>T (p.Thr504Ser)
| ClinVar dbSNP |
20 | g.23047995T>C | CA408405378 | THBD | c.1510A>G (p.Thr504Ala)
| dbSNP |
20 | g.23047995T>G | CA408405379 | THBD | c.1510A>C (p.Thr504Pro)
| |
20 | g.23047995T= | CA2355680843 | THBD | c.1510A= (p.Thr504=)
| |
20 | g.23047996G>A | CA510160223 | THBD | c.1509C>T (p.Ser503=)
| |
20 | g.23047996G>C | CA510160226 | THBD | c.1509C>G (p.Ser503=)
| |
20 | g.23047996G>T | CA510160225 | THBD | c.1509C>A (p.Ser503=)
| gnomAD v4 |
20 | g.23047997del | CA2843181868 | THBD | c.1509del (p.Thr504ProfsTer2)
| |
20 | g.23047997G>A | CA408405381 | THBD | c.1508C>T (p.Ser503Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.23047997G>C | CA408405382 | THBD | c.1508C>G (p.Ser503Cys)
| |
20 | g.23047997G= | CA2355680844 | THBD | c.1508C= (p.Ser503=)
| |
20 | g.23047997G>T | CA408405380 | THBD | c.1508C>A (p.Ser503Tyr)
| gnomAD v4 |
20 | g.23047998A>C | CA408405385 | THBD | c.1507T>G (p.Ser503Ala)
| |
20 | g.23047998A>G | CA408405383 | THBD | c.1507T>C (p.Ser503Pro)
| |
20 | g.23047998A>T | CA408405384 | THBD | c.1507T>A (p.Ser503Thr)
| |
20 | g.23047999G>A | CA510160227 | THBD | c.1506C>T (p.Gly502=)
| dbSNP |
20 | g.23047999G>C | CA510160228 | THBD | c.1506C>G (p.Gly502=)
| |
20 | g.23047999G= | CA2355680845 | THBD | c.1506C= (p.Gly502=)
| |
20 | g.23047999G>T | CA510160230 | THBD | c.1506C>A (p.Gly502=)
| dbSNP |
20 | g.23048000C>A | CA408405386 | THBD | c.1505G>T (p.Gly502Val)
| |
20 | g.23048000C>G | CA408405387 | THBD | c.1505G>C (p.Gly502Ala)
| |
20 | g.23048000C>T | CA408405388 | THBD | c.1505G>A (p.Gly502Asp)
| gnomAD v4 |
20 | g.23048001C>A | CA408405389 | THBD | c.1504G>T (p.Gly502Cys)
| gnomAD v4 |
20 | g.23048001C= | CA2355680846 | THBD | c.1504G= (p.Gly502=)
| |
20 | g.23048001C>G | CA9787541 | THBD | c.1504G>C (p.Gly502Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048001C>T | CA9787542 | THBD | c.1504G>A (p.Gly502Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23048002G>A | CA9787543 | THBD | c.1503C>T (p.Pro501=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048002G>C | CA9787544 | THBD | c.1503C>G (p.Pro501=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23048002G= | CA2355680847 | THBD | c.1503C= (p.Pro501=)
| |
20 | g.23048002G>T | CA510160231 | THBD | c.1503C>A (p.Pro501=)
| |
20 | g.23048004dup | CA2843181869 | THBD | c.1503dup (p.Gly502ArgfsTer?)
| |
20 | g.23048003G>A | CA9787545 | THBD | c.1502C>T (p.Pro501Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048003G>C | CA408405390 | THBD | c.1502C>G (p.Pro501Arg)
| |
20 | g.23048003G= | CA2355680848 | THBD | c.1502C= (p.Pro501=)
| |
20 | g.23048003G>T | CA408405391 | THBD | c.1502C>A (p.Pro501His)
| |
20 | g.23048004G>A | CA408405394 | THBD | c.1501C>T (p.Pro501Ser)
| dbSNP |
20 | g.23048004G>C | CA408405392 | THBD | c.1501C>G (p.Pro501Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048004G= | CA2355680849 | THBD | c.1501C= (p.Pro501=)
| |
20 | g.23048004G>T | CA408405393 | THBD | c.1501C>A (p.Pro501Thr)
| |
20 | g.23048005C>A | CA313550519 | THBD | c.1500G>T (p.Thr500=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048005C= | CA2355680850 | THBD | c.1500G= (p.Thr500=)
| |
20 | g.23048005C>G | CA510160232 | THBD | c.1500G>C (p.Thr500=)
| |
20 | g.23048005C>T | CA510160233 | THBD | c.1500G>A (p.Thr500=)
| dbSNP |
20 | g.23048006G>A | CA9787546 | THBD | c.1499C>T (p.Thr500Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048006G>C | CA408405395 | THBD | c.1499C>G (p.Thr500Arg)
| |
20 | g.23048006G= | CA2355680851 | THBD | c.1499C= (p.Thr500=)
| |
20 | g.23048006G>T | CA408405396 | THBD | c.1499C>A (p.Thr500Lys)
| dbSNP |
20 | g.23048007T>A | CA408405397 | THBD | c.1498A>T (p.Thr500Ser)
| |
20 | g.23048007T>C | CA408405398 | THBD | c.1498A>G (p.Thr500Ala)
| COSMIC |
20 | g.23048007T>G | CA408405399 | THBD | c.1498A>C (p.Thr500Pro)
| |
20 | g.23048008C>A | CA510160234 | THBD | c.1497G>T (p.Pro499=)
| dbSNP gnomAD v4 |
20 | g.23048008C= | CA2355680852 | THBD | c.1497G= (p.Pro499=)
| |
20 | g.23048008C>G | CA510160235 | THBD | c.1497G>C (p.Pro499=)
| gnomAD v4 |
20 | g.23048008C>T | CA510160236 | THBD | c.1497G>A (p.Pro499=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048009G>A | CA408405400 | THBD | c.1496C>T (p.Pro499Leu)
| ClinVar dbSNP |
20 | g.23048009G>C | CA9787547 | THBD | c.1496C>G (p.Pro499Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048009G= | CA2355680853 | THBD | c.1496C= (p.Pro499=)
| |
20 | g.23048009G>T | CA408405401 | THBD | c.1496C>A (p.Pro499Gln)
| |
20 | g.23048011dup | CA2843181870 | THBD | c.1496dup (p.Thr500AspfsTer?)
| |
20 | g.23048010G>A | CA408405402 | THBD | c.1495C>T (p.Pro499Ser)
| gnomAD v4 |
20 | g.23048010G>C | CA408405403 | THBD | c.1495C>G (p.Pro499Ala)
| gnomAD v4 |
20 | g.23048010G>T | CA408405404 | THBD | c.1495C>A (p.Pro499Thr)
| gnomAD v4 |
20 | g.23048011G>A | CA510160237 | THBD | c.1494C>T (p.Ser498=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048011G>C | CA408405405 | THBD | c.1494C>G (p.Ser498Arg)
| gnomAD v4 |
20 | g.23048011G= | CA2355680854 | THBD | c.1494C= (p.Ser498=)
| |
20 | g.23048011G>T | CA408405406 | THBD | c.1494C>A (p.Ser498Arg)
| |
20 | g.23048012C>A | CA408405407 | THBD | c.1493G>T (p.Ser498Ile)
| |
20 | g.23048012C>G | CA408405408 | THBD | c.1493G>C (p.Ser498Thr)
| |
20 | g.23048012C>T | CA408405409 | THBD | c.1493G>A (p.Ser498Asn)
| gnomAD v4 |
20 | g.23048013T>A | CA408405410 | THBD | c.1492A>T (p.Ser498Cys)
| |
20 | g.23048013T>C | CA408405411 | THBD | c.1492A>G (p.Ser498Gly)
| |
20 | g.23048013T>G | CA408405412 | THBD | c.1492A>C (p.Ser498Arg)
| |
20 | g.23048014G>A | CA510160238 | THBD | c.1491C>T (p.Pro497=)
| gnomAD v4 |
20 | g.23048014G>C | CA510160239 | THBD | c.1491C>G (p.Pro497=)
| |
20 | g.23048014G= | CA2355680855 | THBD | c.1491C= (p.Pro497=)
| |
20 | g.23048014G>T | CA510160240 | THBD | c.1491C>A (p.Pro497=)
| |
20 | g.23048015G>A | CA408405413 | THBD | c.1490C>T (p.Pro497Leu)
| |
20 | g.23048015G>C | CA408405414 | THBD | c.1490C>G (p.Pro497Arg)
| ClinVar dbSNP gnomAD v4 |
20 | g.23048015G= | CA2355680856 | THBD | c.1490C= (p.Pro497=)
| |
20 | g.23048015G>T | CA408405415 | THBD | c.1490C>A (p.Pro497His)
| |
20 | g.23048017_23048019dup | CA742233880 | THBD | c.1488_1490dup (p.Pro497_Ser498insPro)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048016G>A | CA408405416 | THBD | c.1489C>T (p.Pro497Ser)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048016G>C | CA408405417 | THBD | c.1489C>G (p.Pro497Ala)
| gnomAD v4 |
20 | g.23048016G= | CA2355680857 | THBD | c.1489C= (p.Pro497=)
| |
20 | g.23048016G>T | CA408405418 | THBD | c.1489C>A (p.Pro497Thr)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048017C>A | CA510160241 | THBD | c.1488G>T (p.Pro496=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048017C= | CA2355680858 | THBD | c.1488G= (p.Pro496=)
| |
20 | g.23048017C>G | CA510160243 | THBD | c.1488G>C (p.Pro496=)
| gnomAD v4 |
20 | g.23048017C>T | CA510160242 | THBD | c.1488G>A (p.Pro496=)
| gnomAD v4 |
20 | g.23048017dup | CA2843181871 | THBD | c.1488dup (p.Pro497AlafsTer?)
| |
20 | g.23048017_23048018delinsCG | CA2355680859 | THBD | c.1487_1488delinsCG (p.Pro496=)
| |
20 | g.23048018G>A | CA9787548 | THBD | c.1487C>T (p.Pro496Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23048018G>C | CA408405420 | THBD | c.1487C>G (p.Pro496Arg)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048018G= | CA2355680860 | THBD | c.1487C= (p.Pro496=)
| |
20 | g.23048018G>T | CA408405419 | THBD | c.1487C>A (p.Pro496Gln)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048022dup | CA2832574361 | THBD | c.1487dup (p.Pro497AlafsTer?)
| |
20 | g.23048022del | CA915953096 | THBD | c.1487del (p.Pro496ArgfsTer10)
| ClinVar dbSNP gnomAD v4 |
20 | g.23048019G>A | CA408405421 | THBD | c.1486C>T (p.Pro496Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048019G>C | CA408405422 | THBD | c.1486C>G (p.Pro496Ala)
| |
20 | g.23048019G= | CA2355680861 | THBD | c.1486C= (p.Pro496=)
| |
20 | g.23048019G>T | CA408405423 | THBD | c.1486C>A (p.Pro496Thr)
| |
20 | g.23048020G>A | CA510160244 | THBD | c.1485C>T (p.Pro495=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048020G>C | CA510160245 | THBD | c.1485C>G (p.Pro495=)
| dbSNP gnomAD v4 |
20 | g.23048020G= | CA2355680862 | THBD | c.1485C= (p.Pro495=)
| |
20 | g.23048020G>T | CA510160246 | THBD | c.1485C>A (p.Pro495=)
| |
20 | g.23048021G>A | CA408405424 | THBD | c.1484C>T (p.Pro495Leu)
| |
20 | g.23048021G>C | CA408405425 | THBD | c.1484C>G (p.Pro495Arg)
| |
20 | g.23048021G>T | CA408405426 | THBD | c.1484C>A (p.Pro495His)
| |
20 | g.23048022G>A | CA256543 | THBD | c.1483C>T (p.Pro495Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048022G>C | CA408405427 | THBD | c.1483C>G (p.Pro495Ala)
| |
20 | g.23048022G= | CA2355680863 | THBD | c.1483C= (p.Pro495=)
| |
20 | g.23048022G>T | CA313550530 | THBD | c.1483C>A (p.Pro495Thr)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048023C>A | CA408405428 | THBD | c.1482G>T (p.Glu494Asp)
| |
20 | g.23048023C>G | CA408405429 | THBD | c.1482G>C (p.Glu494Asp)
| |
20 | g.23048023C>T | CA510160247 | THBD | c.1482G>A (p.Glu494=)
| gnomAD v4 |
20 | g.23048024T>A | CA408405430 | THBD | c.1481A>T (p.Glu494Val)
| |
20 | g.23048024T>C | CA408405431 | THBD | c.1481A>G (p.Glu494Gly)
| |
20 | g.23048024T>G | CA408405432 | THBD | c.1481A>C (p.Glu494Ala)
| |
20 | g.23048025C>A | CA408405434 | THBD | c.1480G>T (p.Glu494Ter)
| |
20 | g.23048025C>G | CA408405435 | THBD | c.1480G>C (p.Glu494Gln)
| |
20 | g.23048025C>T | CA408405433 | THBD | c.1480G>A (p.Glu494Lys)
| gnomAD v4 |
20 | g.23048026G>A | CA9787549 | THBD | c.1479C>T (p.Gly493=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048026G>C | CA510160248 | THBD | c.1479C>G (p.Gly493=)
| gnomAD v4 |
20 | g.23048026G= | CA2355680864 | THBD | c.1479C= (p.Gly493=)
| |
20 | g.23048026G>T | CA510160249 | THBD | c.1479C>A (p.Gly493=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048027C>A | CA408405436 | THBD | c.1478G>T (p.Gly493Val)
| dbSNP gnomAD v4 |
20 | g.23048027C= | CA2355680865 | THBD | c.1478G= (p.Gly493=)
| |
20 | g.23048027C>G | CA408405438 | THBD | c.1478G>C (p.Gly493Ala)
| |
20 | g.23048027C>T | CA408405437 | THBD | c.1478G>A (p.Gly493Asp)
| dbSNP gnomAD v4 |
20 | g.23048028C>A | CA408405439 | THBD | c.1477G>T (p.Gly493Cys)
| |
20 | g.23048028C= | CA2355680866 | THBD | c.1477G= (p.Gly493=)
| |
20 | g.23048028C>G | CA408405440 | THBD | c.1477G>C (p.Gly493Arg)
| |
20 | g.23048028C>T | CA408405441 | THBD | c.1477G>A (p.Gly493Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048029A>C | CA510160250 | THBD | c.1476T>G (p.Ser492=)
| |
20 | g.23048029A>G | CA510160251 | THBD | c.1476T>C (p.Ser492=)
| |
20 | g.23048029A>T | CA510160252 | THBD | c.1476T>A (p.Ser492=)
| |
20 | g.23048030G>A | CA408405442 | THBD | c.1475C>T (p.Ser492Phe)
| |
20 | g.23048030G>C | CA408405443 | THBD | c.1475C>G (p.Ser492Cys)
| |
20 | g.23048030G>T | CA408405444 | THBD | c.1475C>A (p.Ser492Tyr)
| |
20 | g.23048031A>C | CA408405445 | THBD | c.1474T>G (p.Ser492Ala)
| |
20 | g.23048031A>G | CA408405446 | THBD | c.1474T>C (p.Ser492Pro)
| |
20 | g.23048031A>T | CA408405447 | THBD | c.1474T>A (p.Ser492Thr)
| |
20 | g.23048032G>A | CA313550569 | THBD | c.1473C>T (p.Gly491=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048032G>C | CA510160254 | THBD | c.1473C>G (p.Gly491=)
| |
20 | g.23048032G= | CA2355680867 | THBD | c.1473C= (p.Gly491=)
| |
20 | g.23048032G>T | CA510160253 | THBD | c.1473C>A (p.Gly491=)
| |
20 | g.23048032dup | CA2843181872 | THBD | c.1473dup (p.Ser492LeufsTer?)
| |
20 | g.23048033C>A | CA9787550 | THBD | c.1472G>T (p.Gly491Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048033C= | CA2355680868 | THBD | c.1472G= (p.Gly491=)
| |
20 | g.23048033C>G | CA408405448 | THBD | c.1472G>C (p.Gly491Ala)
| |
20 | g.23048033C>T | CA408405449 | THBD | c.1472G>A (p.Gly491Asp)
| |
20 | g.23048034C>A | CA408405450 | THBD | c.1471G>T (p.Gly491Cys)
| |
20 | g.23048034C= | CA2355680869 | THBD | c.1471G= (p.Gly491=)
| |
20 | g.23048034C>G | CA408405452 | THBD | c.1471G>C (p.Gly491Arg)
| dbSNP gnomAD v4 |
20 | g.23048034C>T | CA408405451 | THBD | c.1471G>A (p.Gly491Ser)
| |
20 | g.23048035G>A | CA510160255 | THBD | c.1470C>T (p.Ser490=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.23048035G>C | CA408405453 | THBD | c.1470C>G (p.Ser490Arg)
| |
20 | g.23048035G= | CA2355680870 | THBD | c.1470C= (p.Ser490=)
| |
20 | g.23048035G>T | CA408405454 | THBD | c.1470C>A (p.Ser490Arg)
| gnomAD v4 |
20 | g.23048036C>A | CA408405455 | THBD | c.1469G>T (p.Ser490Ile)
| |
20 | g.23048036C>G | CA408405456 | THBD | c.1469G>C (p.Ser490Thr)
| gnomAD v4 |
20 | g.23048036C>T | CA408405457 | THBD | c.1469G>A (p.Ser490Asn)
| |
20 | g.23048037T>A | CA408405458 | THBD | c.1468A>T (p.Ser490Cys)
| |
20 | g.23048037T>C | CA408405459 | THBD | c.1468A>G (p.Ser490Gly)
| dbSNP |
20 | g.23048037T>G | CA408405460 | THBD | c.1468A>C (p.Ser490Arg)
| |
20 | g.23048038G>A | CA510160256 | THBD | c.1467C>T (p.Asp489=)
| dbSNP gnomAD v4 |
20 | g.23048038G>C | CA408405461 | THBD | c.1467C>G (p.Asp489Glu)
| |
20 | g.23048038G= | CA2355680871 | THBD | c.1467C= (p.Asp489=)
| |
20 | g.23048038G>T | CA408405462 | THBD | c.1467C>A (p.Asp489Glu)
| |
20 | g.23048041_23048049dup | CA2652141636 | THBD | c.1459_1467dup (p.Asp489_Ser490insGlyGlyAsp)
| gnomAD v4 |
20 | g.23048039T>A | CA408405465 | THBD | c.1466A>T (p.Asp489Val)
| |
20 | g.23048039T>C | CA408405464 | THBD | c.1466A>G (p.Asp489Gly)
| |
20 | g.23048039T>G | CA408405463 | THBD | c.1466A>C (p.Asp489Ala)
| |
20 | g.23048040C>A | CA408405466 | THBD | c.1465G>T (p.Asp489Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048040C= | CA2355680872 | THBD | c.1465G= (p.Asp489=)
| |
20 | g.23048040C>G | CA313550578 | THBD | c.1465G>C (p.Asp489His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048040C>T | CA408405467 | THBD | c.1465G>A (p.Asp489Asn)
| |
20 | g.23048041G>A | CA510160257 | THBD | c.1464C>T (p.Gly488=)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048041G>C | CA510160258 | THBD | c.1464C>G (p.Gly488=)
| |
20 | g.23048041G= | CA2355680873 | THBD | c.1464C= (p.Gly488=)
| |
20 | g.23048041G>T | CA510160259 | THBD | c.1464C>A (p.Gly488=)
| |
20 | g.23048042C>A | CA408405468 | THBD | c.1463G>T (p.Gly488Val)
| |
20 | g.23048042C>G | CA408405469 | THBD | c.1463G>C (p.Gly488Ala)
| |
20 | g.23048042C>T | CA408405470 | THBD | c.1463G>A (p.Gly488Asp)
| |
20 | g.23048043C>A | CA408405471 | THBD | c.1462G>T (p.Gly488Cys)
| |
20 | g.23048043C>G | CA408405472 | THBD | c.1462G>C (p.Gly488Arg)
| |
20 | g.23048043C>T | CA408405473 | THBD | c.1462G>A (p.Gly488Ser)
| |
20 | g.23048044A>C | CA510160260 | THBD | c.1461T>G (p.Gly487=)
| |
20 | g.23048044A>G | CA510160261 | THBD | c.1461T>C (p.Gly487=)
| |
20 | g.23048044A>T | CA510160262 | THBD | c.1461T>A (p.Gly487=)
| ClinVar |
20 | g.23048045C>A | CA408405474 | THBD | c.1460G>T (p.Gly487Val)
| |
20 | g.23048045C>G | CA408405475 | THBD | c.1460G>C (p.Gly487Ala)
| |
20 | g.23048045C>T | CA408405476 | THBD | c.1460G>A (p.Gly487Asp)
| |
20 | g.23048046dup | CA2843181873 | THBD | c.1460dup (p.Gly488TrpfsTer?)
| |
20 | g.23048046C>A | CA408405478 | THBD | c.1459G>T (p.Gly487Cys)
| ClinVar |
20 | g.23048046C= | CA2355680874 | THBD | c.1459G= (p.Gly487=)
| |
20 | g.23048046C>G | CA408405477 | THBD | c.1459G>C (p.Gly487Arg)
| dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048046C>T | CA313550590 | THBD | c.1459G>A (p.Gly487Ser)
| dbSNP gnomAD v4 |
20 | g.23048047G>A | CA9787551 | THBD | c.1458C>T (p.Asp486=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048047G>C | CA408405479 | THBD | c.1458C>G (p.Asp486Glu)
| |
20 | g.23048047G= | CA2355680875 | THBD | c.1458C= (p.Asp486=)
| |
20 | g.23048047G>T | CA408405480 | THBD | c.1458C>A (p.Asp486Glu)
| gnomAD v4 |
20 | g.23048048T>A | CA408405481 | THBD | c.1457A>T (p.Asp486Val)
| |
20 | g.23048048T>C | CA408405482 | THBD | c.1457A>G (p.Asp486Gly)
| |
20 | g.23048048T>G | CA408405483 | THBD | c.1457A>C (p.Asp486Ala)
| |
20 | g.23048049C>A | CA122642 | THBD | c.1456G>T (p.Asp486Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048049C= | CA2355680876 | THBD | c.1456G= (p.Asp486=)
| |
20 | g.23048049C>G | CA408405484 | THBD | c.1456G>C (p.Asp486His)
| |
20 | g.23048049C>T | CA408405485 | THBD | c.1456G>A (p.Asp486Asn)
| |
20 | g.23048051_23048053del | CA2577353597 | THBD | c.1454_1456del (p.Val485del)
| |
20 | g.23048050C>A | CA510160263 | THBD | c.1455G>T (p.Val485=)
| |
20 | g.23048050C>G | CA510160264 | THBD | c.1455G>C (p.Val485=)
| |
20 | g.23048050C>T | CA510160265 | THBD | c.1455G>A (p.Val485=)
| gnomAD v4 |
20 | g.23048051A>C | CA408405486 | THBD | c.1454T>G (p.Val485Gly)
| |
20 | g.23048051A>G | CA408405487 | THBD | c.1454T>C (p.Val485Ala)
| gnomAD v4 |
20 | g.23048051A>T | CA408405488 | THBD | c.1454T>A (p.Val485Glu)
| |
20 | g.23048052C>A | CA408405490 | THBD | c.1453G>T (p.Val485Leu)
| gnomAD v4 |
20 | g.23048052C= | CA2355680877 | THBD | c.1453G= (p.Val485=)
| |
20 | g.23048052C>G | CA408405489 | THBD | c.1453G>C (p.Val485Leu)
| |
20 | g.23048052C>T | CA9787552 | THBD | c.1453G>A (p.Val485Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23048053C>A | CA408405491 | THBD | c.1452G>T (p.Lys484Asn)
| ClinVar COSMIC |
20 | g.23048053C= | CA2355680878 | THBD | c.1452G= (p.Lys484=)
| |
20 | g.23048053C>G | CA408405492 | THBD | c.1452G>C (p.Lys484Asn)
| |
20 | g.23048053C>T | CA510160266 | THBD | c.1452G>A (p.Lys484=)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048054T>A | CA408405493 | THBD | c.1451A>T (p.Lys484Met)
| gnomAD v4 |
20 | g.23048054T>C | CA408405494 | THBD | c.1451A>G (p.Lys484Arg)
| |
20 | g.23048054T>G | CA408405495 | THBD | c.1451A>C (p.Lys484Thr)
| |
20 | g.23048055T>A | CA408405496 | THBD | c.1450A>T (p.Lys484Ter)
| |
20 | g.23048055T>C | CA313550605 | THBD | c.1450A>G (p.Lys484Glu)
| dbSNP gnomAD v4 |
20 | g.23048055T>G | CA408405497 | THBD | c.1450A>C (p.Lys484Gln)
| |
20 | g.23048055T= | CA2355680879 | THBD | c.1450A= (p.Lys484=)
| |
20 | g.23048056G>A | CA510160267 | THBD | c.1449C>T (p.Gly483=)
| |
20 | g.23048056G>C | CA510160268 | THBD | c.1449C>G (p.Gly483=)
| |
20 | g.23048056G= | CA2355680880 | THBD | c.1449C= (p.Gly483=)
| |
20 | g.23048056G>T | CA510160269 | THBD | c.1449C>A (p.Gly483=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.23048057C>A | CA408405498 | THBD | c.1448G>T (p.Gly483Val)
| |
20 | g.23048057C= | CA2355680881 | THBD | c.1448G= (p.Gly483=)
| |
20 | g.23048057C>G | CA408405499 | THBD | c.1448G>C (p.Gly483Ala)
| |
20 | g.23048057C>T | CA9787553 | THBD | c.1448G>A (p.Gly483Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23048058C>A | CA408405500 | THBD | c.1447G>T (p.Gly483Cys)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048058C= | CA2355680882 | THBD | c.1447G= (p.Gly483=)
| |
20 | g.23048058C>G | CA408405501 | THBD | c.1447G>C (p.Gly483Arg)
| |
20 | g.23048058C>T | CA9787554 | THBD | c.1447G>A (p.Gly483Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
20 | g.23048059G>A | CA9787555 | THBD | c.1446C>T (p.Ser482=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048059G>C | CA510160271 | THBD | c.1446C>G (p.Ser482=)
| gnomAD v4 |
20 | g.23048059G= | CA2355680883 | THBD | c.1446C= (p.Ser482=)
| |
20 | g.23048059G>T | CA510160270 | THBD | c.1446C>A (p.Ser482=)
| |
20 | g.23048060G>A | CA408405502 | THBD | c.1445C>T (p.Ser482Phe)
| gnomAD v4 |
20 | g.23048060G>C | CA408405504 | THBD | c.1445C>G (p.Ser482Cys)
| gnomAD v4 |
20 | g.23048060G>T | CA408405503 | THBD | c.1445C>A (p.Ser482Tyr)
| |
20 | g.23048061A>C | CA408405505 | THBD | c.1444T>G (p.Ser482Ala)
| |
20 | g.23048061A>G | CA408405506 | THBD | c.1444T>C (p.Ser482Pro)
| |
20 | g.23048061A>T | CA408405507 | THBD | c.1444T>A (p.Ser482Thr)
| |
20 | g.23048062G>A | CA510160272 | THBD | c.1443C>T (p.Asp481=)
| |
20 | g.23048062G>C | CA408405508 | THBD | c.1443C>G (p.Asp481Glu)
| |
20 | g.23048062G>T | CA408405509 | THBD | c.1443C>A (p.Asp481Glu)
| |
20 | g.23048063T>A | CA408405510 | THBD | c.1442A>T (p.Asp481Val)
| |
20 | g.23048063T>C | CA408405511 | THBD | c.1442A>G (p.Asp481Gly)
| |
20 | g.23048063T>G | CA408405512 | THBD | c.1442A>C (p.Asp481Ala)
| |
20 | g.23048064C>A | CA408405513 | THBD | c.1441G>T (p.Asp481Tyr)
| |
20 | g.23048064C>G | CA408405514 | THBD | c.1441G>C (p.Asp481His)
| |
20 | g.23048064C>T | CA408405515 | THBD | c.1441G>A (p.Asp481Asn)
| |
20 | g.23048065A>C | CA408405517 | THBD | c.1440T>G (p.Cys480Trp)
| |
20 | g.23048065A>G | CA510160273 | THBD | c.1440T>C (p.Cys480=)
| |
20 | g.23048065A>T | CA408405516 | THBD | c.1440T>A (p.Cys480Ter)
| |
20 | g.23048066C>A | CA408405518 | THBD | c.1439G>T (p.Cys480Phe)
| |
20 | g.23048066C>G | CA408405520 | THBD | c.1439G>C (p.Cys480Ser)
| |
20 | g.23048066C>T | CA408405519 | THBD | c.1439G>A (p.Cys480Tyr)
| ClinVar |
20 | g.23048067A>C | CA408405521 | THBD | c.1438T>G (p.Cys480Gly)
| |
20 | g.23048067A>G | CA408405522 | THBD | c.1438T>C (p.Cys480Arg)
| |
20 | g.23048067A>T | CA408405523 | THBD | c.1438T>A (p.Cys480Ser)
| |
20 | g.23048068G>A | CA9787556 | THBD | c.1437C>T (p.Asp479=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048068G>C | CA408405524 | THBD | c.1437C>G (p.Asp479Glu)
| |
20 | g.23048068G= | CA2355680884 | THBD | c.1437C= (p.Asp479=)
| |
20 | g.23048068G>T | CA408405525 | THBD | c.1437C>A (p.Asp479Glu)
| |
20 | g.23048069T>A | CA408405526 | THBD | c.1436A>T (p.Asp479Val)
| |
20 | g.23048069T>C | CA408405527 | THBD | c.1436A>G (p.Asp479Gly)
| |
20 | g.23048069T>G | CA408405528 | THBD | c.1436A>C (p.Asp479Ala)
| |
20 | g.23048070C>A | CA408405529 | THBD | c.1435G>T (p.Asp479Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048070C= | CA2355680885 | THBD | c.1435G= (p.Asp479=)
| |
20 | g.23048070C>G | CA408405530 | THBD | c.1435G>C (p.Asp479His)
| |
20 | g.23048070C>T | CA9787557 | THBD | c.1435G>A (p.Asp479Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23048071G>A | CA510160274 | THBD | c.1434C>T (p.Thr478=)
| dbSNP COSMIC |
20 | g.23048071G>C | CA510160275 | THBD | c.1434C>G (p.Thr478=)
| |
20 | g.23048071G= | CA2355680886 | THBD | c.1434C= (p.Thr478=)
| |
20 | g.23048071G>T | CA9787558 | THBD | c.1434C>A (p.Thr478=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23048071_23048072insC | CA2652141637 | THBD | c.1433_1434insG (p.Asp479ArgfsTer3)
| gnomAD v4 |
20 | g.23048072G>A | CA313550654 | THBD | c.1433C>T (p.Thr478Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048072G>C | CA408405531 | THBD | c.1433C>G (p.Thr478Ser)
| |
20 | g.23048072G= | CA2355680887 | THBD | c.1433C= (p.Thr478=)
| |
20 | g.23048072G>T | CA408405532 | THBD | c.1433C>A (p.Thr478Asn)
| dbSNP gnomAD v4 |
20 | g.23048073T>A | CA408405533 | THBD | c.1432A>T (p.Thr478Ser)
| |
20 | g.23048073T>C | CA408405534 | THBD | c.1432A>G (p.Thr478Ala)
| |
20 | g.23048073T>G | CA408405535 | THBD | c.1432A>C (p.Thr478Pro)
| |
20 | g.23048074G>A | CA510160277 | THBD | c.1431C>T (p.Gly477=)
| |
20 | g.23048074G>C | CA510160276 | THBD | c.1431C>G (p.Gly477=)
| |
20 | g.23048074G>T | CA510160278 | THBD | c.1431C>A (p.Gly477=)
| |
20 | g.23048075C>A | CA408405536 | THBD | c.1430G>T (p.Gly477Val)
| |
20 | g.23048075C>G | CA408405537 | THBD | c.1430G>C (p.Gly477Ala)
| |
20 | g.23048075C>T | CA408405538 | THBD | c.1430G>A (p.Gly477Asp)
| gnomAD v4 |
20 | g.23048076C>A | CA408405539 | THBD | c.1429G>T (p.Gly477Cys)
| |
20 | g.23048076C= | CA2355680888 | THBD | c.1429G= (p.Gly477=)
| |
20 | g.23048076C>G | CA408405540 | THBD | c.1429G>C (p.Gly477Arg)
| |
20 | g.23048076C>T | CA408405541 | THBD | c.1429G>A (p.Gly477Ser)
| ClinVar dbSNP gnomAD v4 |
20 | g.23048077A>C | CA408405542 | THBD | c.1428T>G (p.Ile476Met)
| gnomAD v4 |
20 | g.23048077A>G | CA510160279 | THBD | c.1428T>C (p.Ile476=)
| gnomAD v4 |
20 | g.23048077A>T | CA510160280 | THBD | c.1428T>A (p.Ile476=)
| |
20 | g.23048078A= | CA2355680889 | THBD | c.1427T= (p.Ile476=)
| |
20 | g.23048078A>C | CA313550667 | THBD | c.1427T>G (p.Ile476Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048078A>G | CA9787559 | THBD | c.1427T>C (p.Ile476Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23048078A>T | CA408405543 | THBD | c.1427T>A (p.Ile476Asn)
| gnomAD v4 |
20 | g.23048079T>A | CA408405544 | THBD | c.1426A>T (p.Ile476Phe)
| |
20 | g.23048079T>C | CA408405546 | THBD | c.1426A>G (p.Ile476Val)
| |
20 | g.23048079T>G | CA408405545 | THBD | c.1426A>C (p.Ile476Leu)
| |
20 | g.23048080G>A | CA510160281 | THBD | c.1425C>T (p.His475=)
| |
20 | g.23048080G>C | CA408405547 | THBD | c.1425C>G (p.His475Gln)
| |
20 | g.23048080G>T | CA408405548 | THBD | c.1425C>A (p.His475Gln)
| |
20 | g.23048081T>A | CA408405549 | THBD | c.1424A>T (p.His475Leu)
| |
20 | g.23048081T>C | CA408405550 | THBD | c.1424A>G (p.His475Arg)
| gnomAD v4 |
20 | g.23048081T>G | CA408405551 | THBD | c.1424A>C (p.His475Pro)
| |
20 | g.23048082G>A | CA408405552 | THBD | c.1423C>T (p.His475Tyr)
| dbSNP |
20 | g.23048082G>C | CA408405553 | THBD | c.1423C>G (p.His475Asp)
| |
20 | g.23048082G>T | CA408405554 | THBD | c.1423C>A (p.His475Asn)
| |
20 | g.23048083G>A | CA510160282 | THBD | c.1422C>T (p.Arg474=)
| |
20 | g.23048083G>C | CA510160283 | THBD | c.1422C>G (p.Arg474=)
| dbSNP gnomAD v4 |
20 | g.23048083G= | CA2355680890 | THBD | c.1422C= (p.Arg474=)
| |
20 | g.23048083G>T | CA510160284 | THBD | c.1422C>A (p.Arg474=)
| |
20 | g.23048084C>A | CA408405555 | THBD | c.1421G>T (p.Arg474Leu)
| |
20 | g.23048084C= | CA2355680891 | THBD | c.1421G= (p.Arg474=)
| |
20 | g.23048084C>G | CA408405556 | THBD | c.1421G>C (p.Arg474Pro)
| |
20 | g.23048084C>T | CA408405557 | THBD | c.1421G>A (p.Arg474His)
| dbSNP gnomAD v2 |
20 | g.23048085G>A | CA9787560 | THBD | c.1420C>T (p.Arg474Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048085G>C | CA408405558 | THBD | c.1420C>G (p.Arg474Gly)
| |
20 | g.23048085G= | CA2355680892 | THBD | c.1420C= (p.Arg474=)
| |
20 | g.23048085G>T | CA408405559 | THBD | c.1420C>A (p.Arg474Ser)
| |
20 | g.23048086G>A | CA9787561 | THBD | c.1419C>T (p.Ala473=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23048086G>C | CA510160285 | THBD | c.1419C>G (p.Ala473=)
| |
20 | g.23048086G= | CA2355680893 | THBD | c.1419C= (p.Ala473=)
| |
20 | g.23048086G>T | CA510160286 | THBD | c.1419C>A (p.Ala473=)
| |
20 | g.23048087G>A | CA9787562 | THBD | c.1418C>T (p.Ala473Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048087G>C | CA408405560 | THBD | c.1418C>G (p.Ala473Gly)
| |
20 | g.23048087G= | CA2355680894 | THBD | c.1418C= (p.Ala473=)
| |
20 | g.23048087G>T | CA408405561 | THBD | c.1418C>A (p.Ala473Asp)
| dbSNP gnomAD v2 gnomAD v4 |
20 | g.23048088C>A | CA408405562 | THBD | c.1417G>T (p.Ala473Ser)
| |
20 | g.23048088C= | CA2355680895 | THBD | c.1417G= (p.Ala473=)
| |
20 | g.23048088C>G | CA408405563 | THBD | c.1417G>C (p.Ala473Pro)
| |
20 | g.23048088C>T | CA408405564 | THBD | c.1417G>A (p.Ala473Thr)
| dbSNP gnomAD v2 |
20 | g.23048089A>C | CA510160289 | THBD | c.1416T>G (p.Leu472=)
| |
20 | g.23048089A>G | CA510160287 | THBD | c.1416T>C (p.Leu472=)
| |
20 | g.23048089A>T | CA510160288 | THBD | c.1416T>A (p.Leu472=)
| |