| 20 | g.23049390A>C | CA408408346 | THBD | c.115T>G (p.Tyr39Asp)
| |
| 20 | g.23049390A>G | CA408408347 | THBD | c.115T>C (p.Tyr39His)
| gnomAD v4 |
| 20 | g.23049390A>T | CA408408348 | THBD | c.115T>A (p.Tyr39Asn)
| |
| 20 | g.23049391G>A | CA510161170 | THBD | c.114C>T (p.Leu38=)
| |
| 20 | g.23049391G>C | CA510161169 | THBD | c.114C>G (p.Leu38=)
| gnomAD v4 |
| 20 | g.23049391G>T | CA510161168 | THBD | c.114C>A (p.Leu38=)
| gnomAD v4 |
| 20 | g.23049392A>C | CA408408349 | THBD | c.113T>G (p.Leu38Arg)
| |
| 20 | g.23049392A>G | CA408408350 | THBD | c.113T>C (p.Leu38Pro)
| gnomAD v4 |
| 20 | g.23049392A>T | CA408408351 | THBD | c.113T>A (p.Leu38His)
| |
| 20 | g.23049393G>A | CA408408352 | THBD | c.112C>T (p.Leu38Phe)
| gnomAD v4 |
| 20 | g.23049393G>C | CA9787795 | THBD | c.112C>G (p.Leu38Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049393G= | CA2355681553 | THBD | c.112C= (p.Leu38=)
| |
| 20 | g.23049393G>T | CA408408353 | THBD | c.112C>A (p.Leu38Ile)
| gnomAD v4 |
| 20 | g.23049394C>A | CA510161171 | THBD | c.111G>T (p.Ala37=)
| dbSNP gnomAD v4 |
| 20 | g.23049394C= | CA2355681554 | THBD | c.111G= (p.Ala37=)
| |
| 20 | g.23049394C>G | CA510161172 | THBD | c.111G>C (p.Ala37=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049394C>T | CA510161173 | THBD | c.111G>A (p.Ala37=)
| gnomAD v4 |
| 20 | g.23049395G>A | CA408408354 | THBD | c.110C>T (p.Ala37Val)
| dbSNP gnomAD v4 |
| 20 | g.23049395G>C | CA408408355 | THBD | c.110C>G (p.Ala37Gly)
| |
| 20 | g.23049395G= | CA2355681555 | THBD | c.110C= (p.Ala37=)
| |
| 20 | g.23049395G>T | CA408408356 | THBD | c.110C>A (p.Ala37Glu)
| gnomAD v4 |
| 20 | g.23049396C>A | CA408408358 | THBD | c.109G>T (p.Ala37Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049396C= | CA2355681556 | THBD | c.109G= (p.Ala37=)
| |
| 20 | g.23049396C>G | CA408408359 | THBD | c.109G>C (p.Ala37Pro)
| |
| 20 | g.23049396C>T | CA408408357 | THBD | c.109G>A (p.Ala37Thr)
| |
| 20 | g.23049397G>A | CA510161174 | THBD | c.108C>T (p.Phe36=)
| gnomAD v4 |
| 20 | g.23049397G>C | CA408408360 | THBD | c.108C>G (p.Phe36Leu)
| |
| 20 | g.23049397G>T | CA408408361 | THBD | c.108C>A (p.Phe36Leu)
| gnomAD v4 |
| 20 | g.23049398A>C | CA408408362 | THBD | c.107T>G (p.Phe36Cys)
| |
| 20 | g.23049398A>G | CA408408363 | THBD | c.107T>C (p.Phe36Ser)
| |
| 20 | g.23049398A>T | CA408408364 | THBD | c.107T>A (p.Phe36Tyr)
| |
| 20 | g.23049399A>C | CA408408367 | THBD | c.106T>G (p.Phe36Val)
| |
| 20 | g.23049399A>G | CA408408365 | THBD | c.106T>C (p.Phe36Leu)
| |
| 20 | g.23049399A>T | CA408408366 | THBD | c.106T>A (p.Phe36Ile)
| |
| 20 | g.23049400G>A | CA510161175 | THBD | c.105C>T (p.Cys35=)
| |
| 20 | g.23049400G>C | CA408408368 | THBD | c.105C>G (p.Cys35Trp)
| |
| 20 | g.23049400G>T | CA408408369 | THBD | c.105C>A (p.Cys35Ter)
| gnomAD v4 |
| 20 | g.23049401C>A | CA9787796 | THBD | c.104G>T (p.Cys35Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049401C= | CA2355681557 | THBD | c.104G= (p.Cys35=)
| |
| 20 | g.23049401C>G | CA408408370 | THBD | c.104G>C (p.Cys35Ser)
| |
| 20 | g.23049401C>T | CA408408371 | THBD | c.104G>A (p.Cys35Tyr)
| gnomAD v4 |
| 20 | g.23049402A>C | CA408408372 | THBD | c.103T>G (p.Cys35Gly)
| |
| 20 | g.23049402A>G | CA408408374 | THBD | c.103T>C (p.Cys35Arg)
| gnomAD v4 |
| 20 | g.23049402A>T | CA408408373 | THBD | c.103T>A (p.Cys35Ser)
| |
| 20 | g.23049403G>A | CA9787797 | THBD | c.102C>T (p.Asp34=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049403G>C | CA408408376 | THBD | c.102C>G (p.Asp34Glu)
| |
| 20 | g.23049403G= | CA2355681558 | THBD | c.102C= (p.Asp34=)
| |
| 20 | g.23049403G>T | CA408408375 | THBD | c.102C>A (p.Asp34Glu)
| gnomAD v4 |
| 20 | g.23049404T>A | CA408408377 | THBD | c.101A>T (p.Asp34Val)
| |
| 20 | g.23049404T>C | CA408408378 | THBD | c.101A>G (p.Asp34Gly)
| |
| 20 | g.23049404T>G | CA408408379 | THBD | c.101A>C (p.Asp34Ala)
| |
| 20 | g.23049405C>A | CA408408380 | THBD | c.100G>T (p.Asp34Tyr)
| gnomAD v4 |
| 20 | g.23049405C>G | CA408408381 | THBD | c.100G>C (p.Asp34His)
| |
| 20 | g.23049405C>T | CA408408382 | THBD | c.100G>A (p.Asp34Asn)
| gnomAD v4 |
| 20 | g.23049406G>A | CA510161179 | THBD | c.99C>T (p.His33=)
| dbSNP gnomAD v4 |
| 20 | g.23049406G>C | CA408408383 | THBD | c.99C>G (p.His33Gln)
| |
| 20 | g.23049406G= | CA2355681559 | THBD | c.99C= (p.His33=)
| |
| 20 | g.23049406G>T | CA408408384 | THBD | c.99C>A (p.His33Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049407T>A | CA408408385 | THBD | c.98A>T (p.His33Leu)
| |
| 20 | g.23049407T>C | CA408408386 | THBD | c.98A>G (p.His33Arg)
| |
| 20 | g.23049407T>G | CA408408387 | THBD | c.98A>C (p.His33Pro)
| |
| 20 | g.23049408G>A | CA9787798 | THBD | c.97C>T (p.His33Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049408G>C | CA408408389 | THBD | c.97C>G (p.His33Asp)
| |
| 20 | g.23049408G= | CA2355681560 | THBD | c.97C= (p.His33=)
| |
| 20 | g.23049408G>T | CA408408388 | THBD | c.97C>A (p.His33Asn)
| gnomAD v4 |
| 20 | g.23049409C>A | CA408408390 | THBD | c.96G>T (p.Glu32Asp)
| gnomAD v4 |
| 20 | g.23049409C= | CA2355681561 | THBD | c.96G= (p.Glu32=)
| |
| 20 | g.23049409C>G | CA408408391 | THBD | c.96G>C (p.Glu32Asp)
| |
| 20 | g.23049409C>T | CA9787799 | THBD | c.96G>A (p.Glu32=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049410T>A | CA408408392 | THBD | c.95A>T (p.Glu32Val)
| |
| 20 | g.23049410T>C | CA408408393 | THBD | c.95A>G (p.Glu32Gly)
| |
| 20 | g.23049410T>G | CA408408394 | THBD | c.95A>C (p.Glu32Ala)
| |
| 20 | g.23049411C>A | CA408408397 | THBD | c.94G>T (p.Glu32Ter)
| gnomAD v4 |
| 20 | g.23049411C>G | CA408408398 | THBD | c.94G>C (p.Glu32Gln)
| |
| 20 | g.23049411C>T | CA408408400 | THBD | c.94G>A (p.Glu32Lys)
| gnomAD v4 |
| 20 | g.23049412G>A | CA510161184 | THBD | c.93C>T (p.Val31=)
| gnomAD v4 |
| 20 | g.23049412G>C | CA510161187 | THBD | c.93C>G (p.Val31=)
| gnomAD v4 |
| 20 | g.23049412G= | CA2355681562 | THBD | c.93C= (p.Val31=)
| |
| 20 | g.23049412G>T | CA510161185 | THBD | c.93C>A (p.Val31=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049413A>C | CA408408401 | THBD | c.92T>G (p.Val31Gly)
| |
| 20 | g.23049413A>G | CA408408403 | THBD | c.92T>C (p.Val31Ala)
| gnomAD v4 |
| 20 | g.23049413A>T | CA408408404 | THBD | c.92T>A (p.Val31Asp)
| |
| 20 | g.23049414C>A | CA408408409 | THBD | c.91G>T (p.Val31Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049414C= | CA2355681563 | THBD | c.91G= (p.Val31=)
| |
| 20 | g.23049414C>G | CA408408408 | THBD | c.91G>C (p.Val31Leu)
| |
| 20 | g.23049414C>T | CA408408406 | THBD | c.91G>A (p.Val31Ile)
| gnomAD v4 |
| 20 | g.23049415G>A | CA510161190 | THBD | c.90C>T (p.Cys30=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049415G>C | CA408408410 | THBD | c.90C>G (p.Cys30Trp)
| |
| 20 | g.23049415G= | CA2355681564 | THBD | c.90C= (p.Cys30=)
| |
| 20 | g.23049415G>T | CA408408412 | THBD | c.90C>A (p.Cys30Ter)
| gnomAD v4 |
| 20 | g.23049416C>A | CA408408414 | THBD | c.89G>T (p.Cys30Phe)
| gnomAD v4 |
| 20 | g.23049416C>G | CA408408416 | THBD | c.89G>C (p.Cys30Ser)
| |
| 20 | g.23049416C>T | CA408408417 | THBD | c.89G>A (p.Cys30Tyr)
| |
| 20 | g.23049417A>C | CA408408418 | THBD | c.88T>G (p.Cys30Gly)
| |
| 20 | g.23049417A>G | CA408408419 | THBD | c.88T>C (p.Cys30Arg)
| |
| 20 | g.23049417A>T | CA408408421 | THBD | c.88T>A (p.Cys30Ser)
| |
| 20 | g.23049418C>A | CA408408422 | THBD | c.87G>T (p.Gln29His)
| gnomAD v4 |
| 20 | g.23049418C= | CA2355681565 | THBD | c.87G= (p.Gln29=)
| |
| 20 | g.23049418C>G | CA408408424 | THBD | c.87G>C (p.Gln29His)
| |
| 20 | g.23049418C>T | CA510161197 | THBD | c.87G>A (p.Gln29=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049419T>A | CA408408425 | THBD | c.86A>T (p.Gln29Leu)
| |
| 20 | g.23049419T>C | CA408408426 | THBD | c.86A>G (p.Gln29Arg)
| gnomAD v4 |
| 20 | g.23049419T>G | CA408408428 | THBD | c.86A>C (p.Gln29Pro)
| |
| 20 | g.23049420G>A | CA408408433 | THBD | c.85C>T (p.Gln29Ter)
| gnomAD v4 |
| 20 | g.23049420G>C | CA408408430 | THBD | c.85C>G (p.Gln29Glu)
| |
| 20 | g.23049420G>T | CA408408432 | THBD | c.85C>A (p.Gln29Lys)
| gnomAD v4 |
| 20 | g.23049421G>A | CA510161199 | THBD | c.84C>T (p.Ser28=)
| gnomAD v4 |
| 20 | g.23049421G>C | CA408408434 | THBD | c.84C>G (p.Ser28Arg)
| |
| 20 | g.23049421G>T | CA408408435 | THBD | c.84C>A (p.Ser28Arg)
| gnomAD v4 |
| 20 | g.23049422C>A | CA313552654 | THBD | c.83G>T (p.Ser28Ile)
| dbSNP gnomAD v4 |
| 20 | g.23049422C= | CA2355681566 | THBD | c.83G= (p.Ser28=)
| |
| 20 | g.23049422C>G | CA408408438 | THBD | c.83G>C (p.Ser28Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049422C>T | CA408408439 | THBD | c.83G>A (p.Ser28Asn)
| gnomAD v4 |
| 20 | g.23049423T>A | CA408408442 | THBD | c.82A>T (p.Ser28Cys)
| ClinVar |
| 20 | g.23049423T>C | CA408408443 | THBD | c.82A>G (p.Ser28Gly)
| |
| 20 | g.23049423T>G | CA408408444 | THBD | c.82A>C (p.Ser28Arg)
| |
| 20 | g.23049424G>A | CA510161204 | THBD | c.81C>T (p.Gly27=)
| gnomAD v4 |
| 20 | g.23049424G>C | CA510161206 | THBD | c.81C>G (p.Gly27=)
| |
| 20 | g.23049424G>T | CA510161207 | THBD | c.81C>A (p.Gly27=)
| gnomAD v4 |
| 20 | g.23049425C>A | CA408408446 | THBD | c.80G>T (p.Gly27Val)
| gnomAD v4 |
| 20 | g.23049425C= | CA2355681567 | THBD | c.80G= (p.Gly27=)
| |
| 20 | g.23049425C>G | CA408408447 | THBD | c.80G>C (p.Gly27Ala)
| |
| 20 | g.23049425C>T | CA9787800 | THBD | c.80G>A (p.Gly27Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049426C>A | CA408408453 | THBD | c.79G>T (p.Gly27Cys)
| gnomAD v4 |
| 20 | g.23049426C>G | CA408408452 | THBD | c.79G>C (p.Gly27Arg)
| |
| 20 | g.23049426C>T | CA408408450 | THBD | c.79G>A (p.Gly27Ser)
| gnomAD v4 |
| 20 | g.23049427A= | CA2355681568 | THBD | c.78T= (p.Gly26=)
| |
| 20 | g.23049427A>C | CA313552677 | THBD | c.78T>G (p.Gly26=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049427A>G | CA510161208 | THBD | c.78T>C (p.Gly26=)
| |
| 20 | g.23049427A>T | CA313552685 | THBD | c.78T>A (p.Gly26=)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23049428C>A | CA408408457 | THBD | c.77G>T (p.Gly26Val)
| dbSNP gnomAD v4 |
| 20 | g.23049428C= | CA2355681569 | THBD | c.77G= (p.Gly26=)
| |
| 20 | g.23049428C>G | CA9787801 | THBD | c.77G>C (p.Gly26Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049428C>T | CA408408456 | THBD | c.77G>A (p.Gly26Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049429C>A | CA408408458 | THBD | c.76G>T (p.Gly26Cys)
| gnomAD v4 |
| 20 | g.23049429C>G | CA408408460 | THBD | c.76G>C (p.Gly26Arg)
| |
| 20 | g.23049429C>T | CA408408461 | THBD | c.76G>A (p.Gly26Ser)
| |
| 20 | g.23049430C>A | CA510161213 | THBD | c.75G>T (p.Pro25=)
| gnomAD v4 |
| 20 | g.23049430C= | CA2355681570 | THBD | c.75G= (p.Pro25=)
| |
| 20 | g.23049430C>G | CA510161214 | THBD | c.75G>C (p.Pro25=)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23049430C>T | CA313552699 | THBD | c.75G>A (p.Pro25=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049431G>A | CA9787803 | THBD | c.74C>T (p.Pro25Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049431G>C | CA408408463 | THBD | c.74C>G (p.Pro25Arg)
| |
| 20 | g.23049431G= | CA2355681571 | THBD | c.74C= (p.Pro25=)
| |
| 20 | g.23049431G>T | CA9787802 | THBD | c.74C>A (p.Pro25Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049432G>A | CA408408465 | THBD | c.73C>T (p.Pro25Ser)
| gnomAD v4 |
| 20 | g.23049432G>C | CA408408467 | THBD | c.73C>G (p.Pro25Ala)
| gnomAD v4 |
| 20 | g.23049432G>T | CA408408468 | THBD | c.73C>A (p.Pro25Thr)
| gnomAD v4 |
| 20 | g.23049433C>A | CA408408470 | THBD | c.72G>T (p.Gln24His)
| gnomAD v4 |
| 20 | g.23049433C= | CA2355681572 | THBD | c.72G= (p.Gln24=)
| |
| 20 | g.23049433C>G | CA408408471 | THBD | c.72G>C (p.Gln24His)
| |
| 20 | g.23049433C>T | CA510161217 | THBD | c.72G>A (p.Gln24=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049434T>A | CA408408472 | THBD | c.71A>T (p.Gln24Leu)
| |
| 20 | g.23049434T>C | CA408408481 | THBD | c.71A>G (p.Gln24Arg)
| gnomAD v4 |
| 20 | g.23049434T>G | CA408408475 | THBD | c.71A>C (p.Gln24Pro)
| |
| 20 | g.23049435G>A | CA408408483 | THBD | c.70C>T (p.Gln24Ter)
| |
| 20 | g.23049435G>C | CA408408484 | THBD | c.70C>G (p.Gln24Glu)
| |
| 20 | g.23049435G>T | CA408408486 | THBD | c.70C>A (p.Gln24Lys)
| gnomAD v4 |
| 20 | g.23049437_23049439del | CA2652141676 | THBD | c.68_70del (p.Pro23del)
| ClinVar gnomAD v4 |
| 20 | g.23049436C>A | CA510161222 | THBD | c.69G>T (p.Pro23=)
| dbSNP gnomAD v4 |
| 20 | g.23049436C= | CA2355681573 | THBD | c.69G= (p.Pro23=)
| |
| 20 | g.23049436C>G | CA510161223 | THBD | c.69G>C (p.Pro23=)
| |
| 20 | g.23049436C>T | CA510161221 | THBD | c.69G>A (p.Pro23=)
| gnomAD v4 |
| 20 | g.23049437G>A | CA408408488 | THBD | c.68C>T (p.Pro23Leu)
| dbSNP gnomAD v4 COSMIC |
| 20 | g.23049437G>C | CA408408490 | THBD | c.68C>G (p.Pro23Arg)
| gnomAD v4 |
| 20 | g.23049437G= | CA2355681574 | THBD | c.68C= (p.Pro23=)
| |
| 20 | g.23049437G>T | CA9787804 | THBD | c.68C>A (p.Pro23Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049438G>A | CA9787805 | THBD | c.67C>T (p.Pro23Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049438G>C | CA408408495 | THBD | c.67C>G (p.Pro23Ala)
| |
| 20 | g.23049438G= | CA2355681575 | THBD | c.67C= (p.Pro23=)
| |
| 20 | g.23049438G>T | CA408408497 | THBD | c.67C>A (p.Pro23Thr)
| gnomAD v4 |
| 20 | g.23049439C>A | CA408408498 | THBD | c.66G>T (p.Glu22Asp)
| gnomAD v4 |
| 20 | g.23049439C= | CA2355681576 | THBD | c.66G= (p.Glu22=)
| |
| 20 | g.23049439C>G | CA408408499 | THBD | c.66G>C (p.Glu22Asp)
| |
| 20 | g.23049439C>T | CA510161224 | THBD | c.66G>A (p.Glu22=)
| dbSNP gnomAD v4 |
| 20 | g.23049440T>A | CA408408504 | THBD | c.65A>T (p.Glu22Val)
| |
| 20 | g.23049440T>C | CA408408503 | THBD | c.65A>G (p.Glu22Gly)
| gnomAD v4 |
| 20 | g.23049440T>G | CA408408501 | THBD | c.65A>C (p.Glu22Ala)
| |
| 20 | g.23049441C>A | CA408408509 | THBD | c.64G>T (p.Glu22Ter)
| gnomAD v4 |
| 20 | g.23049441C>G | CA408408506 | THBD | c.64G>C (p.Glu22Gln)
| |
| 20 | g.23049441C>T | CA408408507 | THBD | c.64G>A (p.Glu22Lys)
| |
| 20 | g.23049442T>A | CA510161225 | THBD | c.63A>T (p.Ala21=)
| gnomAD v4 |
| 20 | g.23049442T>C | CA510161226 | THBD | c.63A>G (p.Ala21=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049442T>G | CA510161227 | THBD | c.63A>C (p.Ala21=)
| |
| 20 | g.23049442T= | CA2355681577 | THBD | c.63A= (p.Ala21=)
| |
| 20 | g.23049443G>A | CA408408511 | THBD | c.62C>T (p.Ala21Val)
| dbSNP gnomAD v2 |
| 20 | g.23049443G>C | CA408408512 | THBD | c.62C>G (p.Ala21Gly)
| |
| 20 | g.23049443G= | CA2355681578 | THBD | c.62C= (p.Ala21=)
| |
| 20 | g.23049443G>T | CA408408513 | THBD | c.62C>A (p.Ala21Glu)
| |
| 20 | g.23049444C>A | CA408408515 | THBD | c.61G>T (p.Ala21Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049444C= | CA2355681579 | THBD | c.61G= (p.Ala21=)
| |
| 20 | g.23049444C>G | CA408408517 | THBD | c.61G>C (p.Ala21Pro)
| |
| 20 | g.23049444C>T | CA408408518 | THBD | c.61G>A (p.Ala21Thr)
| gnomAD v4 COSMIC |
| 20 | g.23049445G>A | CA510161228 | THBD | c.60C>T (p.Pro20=)
| |
| 20 | g.23049445G>C | CA510161229 | THBD | c.60C>G (p.Pro20=)
| |
| 20 | g.23049445G= | CA2355681580 | THBD | c.60C= (p.Pro20=)
| |
| 20 | g.23049445G>T | CA510161230 | THBD | c.60C>A (p.Pro20=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049446G>A | CA408408520 | THBD | c.59C>T (p.Pro20Leu)
| gnomAD v4 |
| 20 | g.23049446G>C | CA408408521 | THBD | c.59C>G (p.Pro20Arg)
| |
| 20 | g.23049446G= | CA2355681581 | THBD | c.59C= (p.Pro20=)
| |
| 20 | g.23049446G>T | CA9787806 | THBD | c.59C>A (p.Pro20His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049447G>A | CA408408523 | THBD | c.58C>T (p.Pro20Ser)
| gnomAD v4 |
| 20 | g.23049447G>C | CA408408525 | THBD | c.58C>G (p.Pro20Ala)
| |
| 20 | g.23049447G>T | CA408408527 | THBD | c.58C>A (p.Pro20Thr)
| gnomAD v4 |
| 20 | g.23049448T>A | CA9787807 | THBD | c.57A>T (p.Ala19=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049448T>C | CA510161231 | THBD | c.57A>G (p.Ala19=)
| |
| 20 | g.23049448T>G | CA510161232 | THBD | c.57A>C (p.Ala19=)
| |
| 20 | g.23049448T= | CA2355681582 | THBD | c.57A= (p.Ala19=)
| |
| 20 | g.23049449G>A | CA408408529 | THBD | c.56C>T (p.Ala19Val)
| dbSNP gnomAD v4 |
| 20 | g.23049449G>C | CA408408531 | THBD | c.56C>G (p.Ala19Gly)
| |
| 20 | g.23049449G>T | CA408408532 | THBD | c.56C>A (p.Ala19Glu)
| gnomAD v4 |
| 20 | g.23049450C>A | CA408408533 | THBD | c.55G>T (p.Ala19Ser)
| gnomAD v4 |
| 20 | g.23049450C>G | CA408408535 | THBD | c.55G>C (p.Ala19Pro)
| |
| 20 | g.23049450C>T | CA408408536 | THBD | c.55G>A (p.Ala19Thr)
| gnomAD v4 |
| 20 | g.23049451G>A | CA510161233 | THBD | c.54C>T (p.Pro18=)
| dbSNP gnomAD v4 |
| 20 | g.23049451G>C | CA510161234 | THBD | c.54C>G (p.Pro18=)
| |
| 20 | g.23049451G= | CA2355681583 | THBD | c.54C= (p.Pro18=)
| |
| 20 | g.23049451G>T | CA510161235 | THBD | c.54C>A (p.Pro18=)
| gnomAD v4 |
| 20 | g.23049454del | CA2652141677 | THBD | c.54del (p.Ala19HisfsTer?)
| gnomAD v4 |
| 20 | g.23049452G>A | CA408408538 | THBD | c.53C>T (p.Pro18Leu)
| gnomAD v4 |
| 20 | g.23049452G>C | CA408408540 | THBD | c.53C>G (p.Pro18Arg)
| gnomAD v4 |
| 20 | g.23049452G>T | CA408408541 | THBD | c.53C>A (p.Pro18His)
| gnomAD v4 |
| 20 | g.23049453G>A | CA9787808 | THBD | c.52C>T (p.Pro18Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049453G>C | CA408408543 | THBD | c.52C>G (p.Pro18Ala)
| |
| 20 | g.23049453G= | CA2355681584 | THBD | c.52C= (p.Pro18=)
| |
| 20 | g.23049453G>T | CA408408587 | THBD | c.52C>A (p.Pro18Thr)
| gnomAD v4 |
| 20 | g.23049454G>A | CA510161236 | THBD | c.51C>T (p.Phe17=)
| |
| 20 | g.23049454G>C | CA408408589 | THBD | c.51C>G (p.Phe17Leu)
| |
| 20 | g.23049454G>T | CA408408590 | THBD | c.51C>A (p.Phe17Leu)
| |
| 20 | g.23049455A>C | CA408408593 | THBD | c.50T>G (p.Phe17Cys)
| |
| 20 | g.23049455A>G | CA408408595 | THBD | c.50T>C (p.Phe17Ser)
| |
| 20 | g.23049455A>T | CA408408592 | THBD | c.50T>A (p.Phe17Tyr)
| |
| 20 | g.23049456A= | CA2355681585 | THBD | c.49T= (p.Phe17=)
| |
| 20 | g.23049456A>C | CA408408597 | THBD | c.49T>G (p.Phe17Val)
| |
| 20 | g.23049456A>G | CA408408599 | THBD | c.49T>C (p.Phe17Leu)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23049456A>T | CA408408598 | THBD | c.49T>A (p.Phe17Ile)
| |
| 20 | g.23049457C>A | CA510161237 | THBD | c.48G>T (p.Gly16=)
| |
| 20 | g.23049457C>G | CA510161238 | THBD | c.48G>C (p.Gly16=)
| |
| 20 | g.23049457C>T | CA510161239 | THBD | c.48G>A (p.Gly16=)
| |
| 20 | g.23049458C>A | CA408408601 | THBD | c.47G>T (p.Gly16Val)
| gnomAD v4 |
| 20 | g.23049458C>G | CA408408603 | THBD | c.47G>C (p.Gly16Ala)
| |
| 20 | g.23049458C>T | CA408408604 | THBD | c.47G>A (p.Gly16Glu)
| |
| 20 | g.23049459C>A | CA408408606 | THBD | c.46G>T (p.Gly16Trp)
| gnomAD v4 |
| 20 | g.23049459C= | CA2355681586 | THBD | c.46G= (p.Gly16=)
| |
| 20 | g.23049459C>G | CA408408608 | THBD | c.46G>C (p.Gly16Arg)
| dbSNP |
| 20 | g.23049459C>T | CA408408609 | THBD | c.46G>A (p.Gly16Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049460C>A | CA510161240 | THBD | c.45G>T (p.Leu15=)
| gnomAD v4 |
| 20 | g.23049460C>G | CA510161241 | THBD | c.45G>C (p.Leu15=)
| |
| 20 | g.23049460C>T | CA510161242 | THBD | c.45G>A (p.Leu15=)
| |
| 20 | g.23049461A= | CA2355681587 | THBD | c.44T= (p.Leu15=)
| |
| 20 | g.23049461A>C | CA408408610 | THBD | c.44T>G (p.Leu15Arg)
| dbSNP |
| 20 | g.23049461A>G | CA408408611 | THBD | c.44T>C (p.Leu15Pro)
| dbSNP |
| 20 | g.23049461A>T | CA408408612 | THBD | c.44T>A (p.Leu15Gln)
| gnomAD v4 |
| 20 | g.23049462G>A | CA510161243 | THBD | c.43C>T (p.Leu15=)
| |
| 20 | g.23049462G>C | CA408408614 | THBD | c.43C>G (p.Leu15Val)
| |
| 20 | g.23049462G>T | CA408408615 | THBD | c.43C>A (p.Leu15Met)
| gnomAD v4 |
| 20 | g.23049463G>A | CA313552758 | THBD | c.42C>T (p.Gly14=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049463G>C | CA510161245 | THBD | c.42C>G (p.Gly14=)
| |
| 20 | g.23049463G= | CA2355681588 | THBD | c.42C= (p.Gly14=)
| |
| 20 | g.23049463G>T | CA510161244 | THBD | c.42C>A (p.Gly14=)
| gnomAD v4 |
| 20 | g.23049464C>A | CA408408619 | THBD | c.41G>T (p.Gly14Val)
| gnomAD v4 |
| 20 | g.23049464C= | CA2355681589 | THBD | c.41G= (p.Gly14=)
| |
| 20 | g.23049464C>G | CA408408621 | THBD | c.41G>C (p.Gly14Ala)
| |
| 20 | g.23049464C>T | CA9787809 | THBD | c.41G>A (p.Gly14Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049465C>A | CA408408623 | THBD | c.40G>T (p.Gly14Cys)
| gnomAD v4 |
| 20 | g.23049465C= | CA2355681590 | THBD | c.40G= (p.Gly14=)
| |
| 20 | g.23049465C>G | CA408408625 | THBD | c.40G>C (p.Gly14Arg)
| |
| 20 | g.23049465C>T | CA9787810 | THBD | c.40G>A (p.Gly14Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049466G>A | CA510161246 | THBD | c.39C>T (p.Ala13=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049466G>C | CA510161247 | THBD | c.39C>G (p.Ala13=)
| |
| 20 | g.23049466G= | CA2355681591 | THBD | c.39C= (p.Ala13=)
| |
| 20 | g.23049466G>T | CA510161248 | THBD | c.39C>A (p.Ala13=)
| gnomAD v4 |
| 20 | g.23049467G>A | CA408408627 | THBD | c.38C>T (p.Ala13Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049467G>C | CA408408628 | THBD | c.38C>G (p.Ala13Gly)
| |
| 20 | g.23049467G= | CA2355681592 | THBD | c.38C= (p.Ala13=)
| |
| 20 | g.23049467G>T | CA408408630 | THBD | c.38C>A (p.Ala13Asp)
| ClinVar gnomAD v4 |
| 20 | g.23049468C>A | CA408408632 | THBD | c.37G>T (p.Ala13Ser)
| gnomAD v4 |
| 20 | g.23049468C>G | CA408408633 | THBD | c.37G>C (p.Ala13Pro)
| gnomAD v4 |
| 20 | g.23049468C>T | CA408408635 | THBD | c.37G>A (p.Ala13Thr)
| gnomAD v4 |
| 20 | g.23049469C>A | CA510161249 | THBD | c.36G>T (p.Leu12=)
| gnomAD v4 |
| 20 | g.23049469C= | CA2355681593 | THBD | c.36G= (p.Leu12=)
| |
| 20 | g.23049469C>G | CA510161250 | THBD | c.36G>C (p.Leu12=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049469C>T | CA9787811 | THBD | c.36G>A (p.Leu12=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049470A>C | CA408408640 | THBD | c.35T>G (p.Leu12Arg)
| gnomAD v4 |
| 20 | g.23049470A>G | CA408408641 | THBD | c.35T>C (p.Leu12Pro)
| |
| 20 | g.23049470A>T | CA408408638 | THBD | c.35T>A (p.Leu12Gln)
| |
| 20 | g.23049471G>A | CA510161251 | THBD | c.34C>T (p.Leu12=)
| |
| 20 | g.23049471G>C | CA408408642 | THBD | c.34C>G (p.Leu12Val)
| |
| 20 | g.23049471G>T | CA408408644 | THBD | c.34C>A (p.Leu12Met)
| |
| 20 | g.23049473del | CA2652141678 | THBD | c.34del (p.Leu12TrpfsTer?)
| gnomAD v4 |
| 20 | g.23049472G>A | CA510161252 | THBD | c.33C>T (p.Ala11=)
| dbSNP |
| 20 | g.23049472G>C | CA510161253 | THBD | c.33C>G (p.Ala11=)
| |
| 20 | g.23049472G= | CA2355681594 | THBD | c.33C= (p.Ala11=)
| |
| 20 | g.23049472G>T | CA510161254 | THBD | c.33C>A (p.Ala11=)
| |
| 20 | g.23049473G>A | CA408408646 | THBD | c.32C>T (p.Ala11Val)
| dbSNP gnomAD v4 |
| 20 | g.23049473G>C | CA408408647 | THBD | c.32C>G (p.Ala11Gly)
| |
| 20 | g.23049473G>T | CA408408648 | THBD | c.32C>A (p.Ala11Asp)
| gnomAD v4 |
| 20 | g.23049474C>A | CA408408650 | THBD | c.31G>T (p.Ala11Ser)
| gnomAD v4 |
| 20 | g.23049474C= | CA2355681595 | THBD | c.31G= (p.Ala11=)
| |
| 20 | g.23049474C>G | CA408408652 | THBD | c.31G>C (p.Ala11Pro)
| |
| 20 | g.23049474C>T | CA408408653 | THBD | c.31G>A (p.Ala11Thr)
| dbSNP gnomAD v4 |
| 20 | g.23049475C>A | CA510161255 | THBD | c.30G>T (p.Leu10=)
| |
| 20 | g.23049475C>G | CA510161256 | THBD | c.30G>C (p.Leu10=)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23049475C>T | CA510161257 | THBD | c.30G>A (p.Leu10=)
| |
| 20 | g.23049476A= | CA2355681596 | THBD | c.29T= (p.Leu10=)
| |
| 20 | g.23049476A>C | CA408408655 | THBD | c.29T>G (p.Leu10Arg)
| gnomAD v4 |
| 20 | g.23049476A>G | CA408408656 | THBD | c.29T>C (p.Leu10Pro)
| dbSNP gnomAD v4 |
| 20 | g.23049476A>T | CA408408658 | THBD | c.29T>A (p.Leu10Gln)
| |
| 20 | g.23049477G>A | CA510161258 | THBD | c.28C>T (p.Leu10=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049477G>C | CA408408660 | THBD | c.28C>G (p.Leu10Val)
| |
| 20 | g.23049477G= | CA2355681598 | THBD | c.28C= (p.Leu10=)
| |
| 20 | g.23049477G>T | CA408408661 | THBD | c.28C>A (p.Leu10Met)
| gnomAD v4 |
| 20 | g.23049477_23049478insTG | CA2355681597 | THBD | c.28_29insAC (p.Leu10HisfsTer?)
| dbSNP |
| 20 | g.23049478C>A | CA510161261 | THBD | c.27G>T (p.Ala9=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049478C= | CA2355681599 | THBD | c.27G= (p.Ala9=)
| |
| 20 | g.23049478C>G | CA510161260 | THBD | c.27G>C (p.Ala9=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049478C>T | CA510161259 | THBD | c.27G>A (p.Ala9=)
| gnomAD v4 |
| 20 | g.23049479G>A | CA408408666 | THBD | c.26C>T (p.Ala9Val)
| gnomAD v4 |
| 20 | g.23049479G>C | CA408408664 | THBD | c.26C>G (p.Ala9Gly)
| |
| 20 | g.23049479G>T | CA408408663 | THBD | c.26C>A (p.Ala9Glu)
| gnomAD v4 |
| 20 | g.23049480C>A | CA408408668 | THBD | c.25G>T (p.Ala9Ser)
| gnomAD v4 |
| 20 | g.23049480C= | CA2355681600 | THBD | c.25G= (p.Ala9=)
| |
| 20 | g.23049480C>G | CA408408670 | THBD | c.25G>C (p.Ala9Pro)
| dbSNP |
| 20 | g.23049480C>T | CA408408671 | THBD | c.25G>A (p.Ala9Thr)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23049481G>A | CA510161262 | THBD | c.24C>T (p.Gly8=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049481G>C | CA510161263 | THBD | c.24C>G (p.Gly8=)
| gnomAD v4 |
| 20 | g.23049481G= | CA2355681601 | THBD | c.24C= (p.Gly8=)
| |
| 20 | g.23049481G>T | CA510161264 | THBD | c.24C>A (p.Gly8=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049482C>A | CA408408672 | THBD | c.23G>T (p.Gly8Val)
| gnomAD v4 |
| 20 | g.23049482C= | CA2355681602 | THBD | c.23G= (p.Gly8=)
| |
| 20 | g.23049482C>G | CA408408674 | THBD | c.23G>C (p.Gly8Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049482C>T | CA408408676 | THBD | c.23G>A (p.Gly8Asp)
| ClinVar dbSNP |
| 20 | g.23049483C>A | CA408408677 | THBD | c.22G>T (p.Gly8Cys)
| gnomAD v4 |
| 20 | g.23049483C= | CA2355681603 | THBD | c.22G= (p.Gly8=)
| |
| 20 | g.23049483C>G | CA408408679 | THBD | c.22G>C (p.Gly8Arg)
| |
| 20 | g.23049483C>T | CA408408680 | THBD | c.22G>A (p.Gly8Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049484A>C | CA510161265 | THBD | c.21T>G (p.Leu7=)
| |
| 20 | g.23049484A>G | CA510161266 | THBD | c.21T>C (p.Leu7=)
| ClinVar gnomAD v4 |
| 20 | g.23049484A>T | CA510161267 | THBD | c.21T>A (p.Leu7=)
| |
| 20 | g.23049485dup | CA742235708 | THBD | c.21dup (p.Gly8TrpfsTer?)
| dbSNP |
| 20 | g.23049485A>C | CA408408682 | THBD | c.20T>G (p.Leu7Arg)
| |
| 20 | g.23049485A>G | CA408408683 | THBD | c.20T>C (p.Leu7Pro)
| |
| 20 | g.23049485A>T | CA408408685 | THBD | c.20T>A (p.Leu7His)
| |
| 20 | g.23049486G>A | CA408408690 | THBD | c.19C>T (p.Leu7Phe)
| |
| 20 | g.23049486G>C | CA408408688 | THBD | c.19C>G (p.Leu7Val)
| |
| 20 | g.23049486G>T | CA408408687 | THBD | c.19C>A (p.Leu7Ile)
| gnomAD v4 |
| 20 | g.23049487G>A | CA313552773 | THBD | c.18C>T (p.Val6=)
| dbSNP gnomAD v4 |
| 20 | g.23049487G>C | CA510161268 | THBD | c.18C>G (p.Val6=)
| gnomAD v4 |
| 20 | g.23049487G= | CA2355681604 | THBD | c.18C= (p.Val6=)
| |
| 20 | g.23049487G>T | CA9787812 | THBD | c.18C>A (p.Val6=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.23049488A>C | CA408408693 | THBD | c.17T>G (p.Val6Gly)
| |
| 20 | g.23049488A>G | CA408408692 | THBD | c.17T>C (p.Val6Ala)
| |
| 20 | g.23049488A>T | CA408408695 | THBD | c.17T>A (p.Val6Asp)
| |
| 20 | g.23049489C>A | CA408408697 | THBD | c.16G>T (p.Val6Phe)
| gnomAD v4 |
| 20 | g.23049489C>G | CA408408700 | THBD | c.16G>C (p.Val6Leu)
| |
| 20 | g.23049489C>T | CA408408699 | THBD | c.16G>A (p.Val6Ile)
| |
| 20 | g.23049490C>A | CA9787813 | THBD | c.15G>T (p.Leu5=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049490C= | CA2355681605 | THBD | c.15G= (p.Leu5=)
| |
| 20 | g.23049490C>G | CA510161269 | THBD | c.15G>C (p.Leu5=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049490C>T | CA510161270 | THBD | c.15G>A (p.Leu5=)
| gnomAD v4 |
