| 20 | g.23049242A= | CA2355681462 | THBD | c.263T= (p.Ile88=)
| |
| 20 | g.23049242A>C | CA313552284 | THBD | c.263T>G (p.Ile88Ser)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23049242A>G | CA408408052 | THBD | c.263T>C (p.Ile88Thr)
| |
| 20 | g.23049242A>T | CA408408053 | THBD | c.263T>A (p.Ile88Asn)
| gnomAD v4 |
| 20 | g.23049242_23049278delinsATCCAGAGGCGCCGGCGGCCAACGCCGCCGTCGCCGT | CA2355681463 | THBD | c.227_263delinsACGGCGACGGCGGCGTTGGCCGCCGGCGCCTCTGGAT (p.Asn76=)
| |
| 20 | g.23049243T>A | CA408408054 | THBD | c.262A>T (p.Ile88Phe)
| dbSNP gnomAD v2 |
| 20 | g.23049243T>C | CA408408055 | THBD | c.262A>G (p.Ile88Val)
| dbSNP |
| 20 | g.23049243T>G | CA408408056 | THBD | c.262A>C (p.Ile88Leu)
| |
| 20 | g.23049243T= | CA2355681464 | THBD | c.262A= (p.Ile88=)
| |
| 20 | g.23049245_23049280del | CA635265826 | THBD | c.227_262del (p.Asn76_Trp87del)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049244C>A | CA408408057 | THBD | c.261G>T (p.Trp87Cys)
| |
| 20 | g.23049244C>G | CA408408058 | THBD | c.261G>C (p.Trp87Cys)
| ClinVar |
| 20 | g.23049244C>T | CA408408059 | THBD | c.261G>A (p.Trp87Ter)
| |
| 20 | g.23049245C>A | CA408408062 | THBD | c.260G>T (p.Trp87Leu)
| |
| 20 | g.23049245C>G | CA408408061 | THBD | c.260G>C (p.Trp87Ser)
| |
| 20 | g.23049245C>T | CA408408060 | THBD | c.260G>A (p.Trp87Ter)
| |
| 20 | g.23049246A>C | CA408408063 | THBD | c.259T>G (p.Trp87Gly)
| |
| 20 | g.23049246A>G | CA408408064 | THBD | c.259T>C (p.Trp87Arg)
| |
| 20 | g.23049246A>T | CA408408065 | THBD | c.259T>A (p.Trp87Arg)
| |
| 20 | g.23049247G>A | CA510161094 | THBD | c.258C>T (p.Leu86=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049247G>C | CA510161095 | THBD | c.258C>G (p.Leu86=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049247G= | CA2355681465 | THBD | c.258C= (p.Leu86=)
| |
| 20 | g.23049247G>T | CA510161096 | THBD | c.258C>A (p.Leu86=)
| |
| 20 | g.23049248A= | CA2355681466 | THBD | c.257T= (p.Leu86=)
| |
| 20 | g.23049248A>C | CA408408066 | THBD | c.257T>G (p.Leu86Arg)
| |
| 20 | g.23049248A>G | CA313552293 | THBD | c.257T>C (p.Leu86Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049248A>T | CA408408067 | THBD | c.257T>A (p.Leu86His)
| |
| 20 | g.23049248_23049251delinsAGGC | CA2355681467 | THBD | c.254_257delinsGCCT (p.Arg85=)
| |
| 20 | g.23049249G>A | CA408408068 | THBD | c.256C>T (p.Leu86Phe)
| dbSNP |
| 20 | g.23049249G>C | CA408408069 | THBD | c.256C>G (p.Leu86Val)
| |
| 20 | g.23049249G= | CA2355681469 | THBD | c.256C= (p.Leu86=)
| |
| 20 | g.23049249G>T | CA408408070 | THBD | c.256C>A (p.Leu86Ile)
| |
| 20 | g.23049250_23049252del | CA2355681468 | THBD | c.254_256del (p.Arg85del)
| dbSNP |
| 20 | g.23049250G>A | CA9787762 | THBD | c.255C>T (p.Arg85=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049250G>C | CA510160960 | THBD | c.255C>G (p.Arg85=)
| |
| 20 | g.23049250G= | CA2355681470 | THBD | c.255C= (p.Arg85=)
| |
| 20 | g.23049250G>T | CA510160963 | THBD | c.255C>A (p.Arg85=)
| |
| 20 | g.23049251C>A | CA408408071 | THBD | c.254G>T (p.Arg85Leu)
| |
| 20 | g.23049251C= | CA2355681471 | THBD | c.254G= (p.Arg85=)
| |
| 20 | g.23049251C>G | CA408408072 | THBD | c.254G>C (p.Arg85Pro)
| |
| 20 | g.23049251C>T | CA408408073 | THBD | c.254G>A (p.Arg85His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049252G>A | CA408408076 | THBD | c.253C>T (p.Arg85Cys)
| gnomAD v4 |
| 20 | g.23049252G>C | CA408408074 | THBD | c.253C>G (p.Arg85Gly)
| |
| 20 | g.23049252G>T | CA408408075 | THBD | c.253C>A (p.Arg85Ser)
| gnomAD v4 |
| 20 | g.23049253C>A | CA510160979 | THBD | c.252G>T (p.Arg84=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049253C= | CA2355681472 | THBD | c.252G= (p.Arg84=)
| |
| 20 | g.23049253C>G | CA510160976 | THBD | c.252G>C (p.Arg84=)
| |
| 20 | g.23049253C>T | CA9787763 | THBD | c.252G>A (p.Arg84=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049253_23049254insG | CA2815567351 | THBD | c.251_252insC (p.Arg85AlafsTer?)
| |
| 20 | g.23049254C>A | CA408408077 | THBD | c.251G>T (p.Arg84Leu)
| |
| 20 | g.23049254C= | CA2355681473 | THBD | c.251G= (p.Arg84=)
| |
| 20 | g.23049254C>G | CA408408078 | THBD | c.251G>C (p.Arg84Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049254C>T | CA408408079 | THBD | c.251G>A (p.Arg84Gln)
| dbSNP |
| 20 | g.23049254_23049262del | CA2652141671 | THBD | c.243_251del (p.Gly82_Arg84del)
| gnomAD v4 |
| 20 | g.23049255G>A | CA408408080 | THBD | c.250C>T (p.Arg84Trp)
| gnomAD v4 |
| 20 | g.23049255G>C | CA408408081 | THBD | c.250C>G (p.Arg84Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049255G= | CA2355681474 | THBD | c.250C= (p.Arg84=)
| |
| 20 | g.23049255G>T | CA510160989 | THBD | c.250C>A (p.Arg84=)
| gnomAD v4 |
| 20 | g.23049256G>A | CA510160991 | THBD | c.249C>T (p.Arg83=)
| gnomAD v4 |
| 20 | g.23049256G>C | CA510160994 | THBD | c.249C>G (p.Arg83=)
| |
| 20 | g.23049256G= | CA2355681475 | THBD | c.249C= (p.Arg83=)
| |
| 20 | g.23049256G>T | CA510160998 | THBD | c.249C>A (p.Arg83=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049257C>A | CA408408082 | THBD | c.248G>T (p.Arg83Leu)
| |
| 20 | g.23049257C>G | CA408408083 | THBD | c.248G>C (p.Arg83Pro)
| dbSNP gnomAD v4 |
| 20 | g.23049257C>T | CA408408084 | THBD | c.248G>A (p.Arg83His)
| gnomAD v4 |
| 20 | g.23049259_23049271del | CA2577353603 | THBD | c.236_248del (p.Gly79AlafsTer?)
| |
| 20 | g.23049259_23049349del | CA2652141672 | THBD | c.158_248del (p.Asp53AlafsTer?)
| gnomAD v4 |
| 20 | g.23049258G>A | CA408408085 | THBD | c.247C>T (p.Arg83Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049258G>C | CA9787764 | THBD | c.247C>G (p.Arg83Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049258G= | CA2355681476 | THBD | c.247C= (p.Arg83=)
| |
| 20 | g.23049258G>T | CA408408086 | THBD | c.247C>A (p.Arg83Ser)
| gnomAD v4 |
| 20 | g.23049259G>A | CA510161004 | THBD | c.246C>T (p.Gly82=)
| gnomAD v4 |
| 20 | g.23049259G>C | CA510161008 | THBD | c.246C>G (p.Gly82=)
| gnomAD v4 |
| 20 | g.23049259G= | CA2355681478 | THBD | c.246C= (p.Gly82=)
| |
| 20 | g.23049259G>T | CA510161006 | THBD | c.246C>A (p.Gly82=)
| dbSNP |
| 20 | g.23049259_23049260delinsGC | CA2355681477 | THBD | c.245_246delinsGC (p.Gly82=)
| |
| 20 | g.23049259_23049260insGC | CA2736665744 | THBD | c.245_246insGC (p.Arg83ProfsTer?)
| dbSNP |
| 20 | g.23049259_23049260insGCC | CA2736665734 | THBD | c.245_246insGGC (p.Gly82_Arg83insAla)
| dbSNP |
| 20 | g.23049259_23049260insGCCCCC | CA2815567352 | THBD | c.245_246insGGGGGC (p.Gly82_Arg83insGlyAla)
| |
| 20 | g.23049259_23049260insGCCCCCCCCC | CA2736665698 | THBD | c.245_246insGGGGGGGGGC (p.Arg83GlyfsTer?)
| dbSNP |
| 20 | g.23049260C>A | CA408408089 | THBD | c.245G>T (p.Gly82Val)
| |
| 20 | g.23049260C= | CA2355681479 | THBD | c.245G= (p.Gly82=)
| |
| 20 | g.23049260C>G | CA408408088 | THBD | c.245G>C (p.Gly82Ala)
| |
| 20 | g.23049260C>T | CA408408087 | THBD | c.245G>A (p.Gly82Asp)
| dbSNP gnomAD v4 |
| 20 | g.23049261del | CA915953097 | THBD | c.245del (p.Gly82AlafsTer?)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23049260_23049264del | CA2736665967 | THBD | c.241_245del (p.Val81ProfsTer?)
| dbSNP |
| 20 | g.23049261C>A | CA408408090 | THBD | c.244G>T (p.Gly82Cys)
| |
| 20 | g.23049261C= | CA2355681480 | THBD | c.244G= (p.Gly82=)
| |
| 20 | g.23049261C>G | CA408408092 | THBD | c.244G>C (p.Gly82Arg)
| ClinVar |
| 20 | g.23049261C>T | CA408408091 | THBD | c.244G>A (p.Gly82Ser)
| dbSNP |
| 20 | g.23049262A>C | CA510161016 | THBD | c.243T>G (p.Val81=)
| gnomAD v3 gnomAD v4 |
| 20 | g.23049262A>G | CA510161017 | THBD | c.243T>C (p.Val81=)
| |
| 20 | g.23049262A>T | CA510161018 | THBD | c.243T>A (p.Val81=)
| |
| 20 | g.23049262_23049263del | CA2736665973 | THBD | c.242_243del (p.Val81GlyfsTer?)
| dbSNP |
| 20 | g.23049263A>C | CA408408093 | THBD | c.242T>G (p.Val81Gly)
| gnomAD v4 |
| 20 | g.23049263A>G | CA408408095 | THBD | c.242T>C (p.Val81Ala)
| gnomAD v4 |
| 20 | g.23049263A>T | CA408408094 | THBD | c.242T>A (p.Val81Asp)
| gnomAD v4 |
| 20 | g.23049264C>A | CA408408096 | THBD | c.241G>T (p.Val81Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049264C= | CA2355681481 | THBD | c.241G= (p.Val81=)
| |
| 20 | g.23049264C>G | CA408408097 | THBD | c.241G>C (p.Val81Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049264C>T | CA9787765 | THBD | c.241G>A (p.Val81Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049265G>A | CA510161025 | THBD | c.240C>T (p.Gly80=)
| gnomAD v4 |
| 20 | g.23049265G>C | CA510161026 | THBD | c.240C>G (p.Gly80=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049265G= | CA2355681482 | THBD | c.240C= (p.Gly80=)
| |
| 20 | g.23049265G>T | CA510161027 | THBD | c.240C>A (p.Gly80=)
| gnomAD v4 |
| 20 | g.23049266C>A | CA408408098 | THBD | c.239G>T (p.Gly80Val)
| gnomAD v4 |
| 20 | g.23049266C= | CA2355681483 | THBD | c.239G= (p.Gly80=)
| |
| 20 | g.23049266C>G | CA408408100 | THBD | c.239G>C (p.Gly80Ala)
| |
| 20 | g.23049266C>T | CA408408099 | THBD | c.239G>A (p.Gly80Asp)
| dbSNP gnomAD v2 COSMIC |
| 20 | g.23049267C>A | CA408408101 | THBD | c.238G>T (p.Gly80Cys)
| gnomAD v4 |
| 20 | g.23049267C>G | CA408408103 | THBD | c.238G>C (p.Gly80Arg)
| |
| 20 | g.23049267C>T | CA408408102 | THBD | c.238G>A (p.Gly80Ser)
| |
| 20 | g.23049268G>A | CA510161031 | THBD | c.237C>T (p.Gly79=)
| gnomAD v4 |
| 20 | g.23049268G>C | CA313552318 | THBD | c.237C>G (p.Gly79=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049268G= | CA2355681484 | THBD | c.237C= (p.Gly79=)
| |
| 20 | g.23049268G>T | CA9787766 | THBD | c.237C>A (p.Gly79=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049269C>A | CA408408104 | THBD | c.236G>T (p.Gly79Val)
| |
| 20 | g.23049269C= | CA2355681485 | THBD | c.236G= (p.Gly79=)
| |
| 20 | g.23049269C>G | CA9787767 | THBD | c.236G>C (p.Gly79Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049269C>T | CA408408105 | THBD | c.236G>A (p.Gly79Asp)
| |
| 20 | g.23049270C>A | CA408408106 | THBD | c.235G>T (p.Gly79Cys)
| gnomAD v4 |
| 20 | g.23049270C= | CA2355681486 | THBD | c.235G= (p.Gly79=)
| |
| 20 | g.23049270C>G | CA408408107 | THBD | c.235G>C (p.Gly79Arg)
| |
| 20 | g.23049270C>T | CA313552336 | THBD | c.235G>A (p.Gly79Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049271G>A | CA510161036 | THBD | c.234C>T (p.Asp78=)
| ClinVar gnomAD v4 COSMIC |
| 20 | g.23049271G>C | CA9787768 | THBD | c.234C>G (p.Asp78Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049271G= | CA2355681487 | THBD | c.234C= (p.Asp78=)
| |
| 20 | g.23049271G>T | CA408408108 | THBD | c.234C>A (p.Asp78Glu)
| |
| 20 | g.23049272T>A | CA408408111 | THBD | c.233A>T (p.Asp78Val)
| |
| 20 | g.23049272T>C | CA408408110 | THBD | c.233A>G (p.Asp78Gly)
| gnomAD v4 |
| 20 | g.23049272T>G | CA408408109 | THBD | c.233A>C (p.Asp78Ala)
| dbSNP gnomAD v4 |
| 20 | g.23049272T= | CA2355681488 | THBD | c.233A= (p.Asp78=)
| |
| 20 | g.23049273C>A | CA408408112 | THBD | c.232G>T (p.Asp78Tyr)
| gnomAD v4 |
| 20 | g.23049273C>G | CA408408113 | THBD | c.232G>C (p.Asp78His)
| |
| 20 | g.23049273C>T | CA408408114 | THBD | c.232G>A (p.Asp78Asn)
| COSMIC |
| 20 | g.23049274G>A | CA510161041 | THBD | c.231C>T (p.Gly77=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049274G>C | CA510161042 | THBD | c.231C>G (p.Gly77=)
| |
| 20 | g.23049274G= | CA2355681489 | THBD | c.231C= (p.Gly77=)
| |
| 20 | g.23049274G>T | CA510161044 | THBD | c.231C>A (p.Gly77=)
| |
| 20 | g.23049275C>A | CA408408115 | THBD | c.230G>T (p.Gly77Val)
| ClinVar gnomAD v4 |
| 20 | g.23049275C= | CA2355681490 | THBD | c.230G= (p.Gly77=)
| |
| 20 | g.23049275C>G | CA408408116 | THBD | c.230G>C (p.Gly77Ala)
| |
| 20 | g.23049275C>T | CA9787769 | THBD | c.230G>A (p.Gly77Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049276C>A | CA408408117 | THBD | c.229G>T (p.Gly77Cys)
| |
| 20 | g.23049276C= | CA2355681491 | THBD | c.229G= (p.Gly77=)
| |
| 20 | g.23049276C>G | CA9787770 | THBD | c.229G>C (p.Gly77Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049276C>T | CA408408118 | THBD | c.229G>A (p.Gly77Ser)
| gnomAD v4 |
| 20 | g.23049277G>A | CA510161048 | THBD | c.228C>T (p.Asn76=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049277G>C | CA408408119 | THBD | c.228C>G (p.Asn76Lys)
| dbSNP gnomAD v4 |
| 20 | g.23049277G= | CA2355681492 | THBD | c.228C= (p.Asn76=)
| |
| 20 | g.23049277G>T | CA408408120 | THBD | c.228C>A (p.Asn76Lys)
| gnomAD v4 COSMIC |
| 20 | g.23049278T>A | CA408408122 | THBD | c.227A>T (p.Asn76Ile)
| |
| 20 | g.23049278T>C | CA408408123 | THBD | c.227A>G (p.Asn76Ser)
| |
| 20 | g.23049278T>G | CA408408121 | THBD | c.227A>C (p.Asn76Thr)
| dbSNP gnomAD v4 |
| 20 | g.23049278T= | CA2355681493 | THBD | c.227A= (p.Asn76=)
| |
| 20 | g.23049279T>A | CA408408124 | THBD | c.226A>T (p.Asn76Tyr)
| |
| 20 | g.23049279T>C | CA408408125 | THBD | c.226A>G (p.Asn76Asp)
| |
| 20 | g.23049279T>G | CA408408126 | THBD | c.226A>C (p.Asn76His)
| |
| 20 | g.23049280C>A | CA510161054 | THBD | c.225G>T (p.Leu75=)
| |
| 20 | g.23049280C= | CA2355681494 | THBD | c.225G= (p.Leu75=)
| |
| 20 | g.23049280C>G | CA510161056 | THBD | c.225G>C (p.Leu75=)
| gnomAD v4 |
| 20 | g.23049280C>T | CA510161055 | THBD | c.225G>A (p.Leu75=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049281A= | CA2355681495 | THBD | c.224T= (p.Leu75=)
| |
| 20 | g.23049281A>C | CA408408127 | THBD | c.224T>G (p.Leu75Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049281A>G | CA408408128 | THBD | c.224T>C (p.Leu75Pro)
| |
| 20 | g.23049281A>T | CA408408129 | THBD | c.224T>A (p.Leu75Gln)
| |
| 20 | g.23049281_23049282insTCAAGGCCGTGCAGGTGCCGGCCGGCTTCGACGTGGCCGACGCGCGCATCGTCGAGATG | CA2815567353 | THBD | c.223_224insCATCTCGACGATGCGCGCGTCGGCCACGTCGAAGCCGGCCGGCACCTGCACGGCCTTGA (p.Leu75ProfsTer20)
| |
| 20 | g.23049282G>A | CA510161061 | THBD | c.223C>T (p.Leu75=)
| COSMIC |
| 20 | g.23049282G>C | CA408408130 | THBD | c.223C>G (p.Leu75Val)
| gnomAD v4 |
| 20 | g.23049282G>T | CA408408131 | THBD | c.223C>A (p.Leu75Met)
| |
| 20 | g.23049283del | CA2577353604 | THBD | c.222del (p.Leu75Ter)
| |
| 20 | g.23049283T>A | CA510161065 | THBD | c.222A>T (p.Leu74=)
| |
| 20 | g.23049283T>C | CA510161067 | THBD | c.222A>G (p.Leu74=)
| |
| 20 | g.23049283T>G | CA510161068 | THBD | c.222A>C (p.Leu74=)
| |
| 20 | g.23049284A>C | CA408408132 | THBD | c.221T>G (p.Leu74Arg)
| |
| 20 | g.23049284A>G | CA408408133 | THBD | c.221T>C (p.Leu74Pro)
| gnomAD v4 |
| 20 | g.23049284A>T | CA408408134 | THBD | c.221T>A (p.Leu74Gln)
| |
| 20 | g.23049285G>A | CA510161071 | THBD | c.220C>T (p.Leu74=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.23049285G>C | CA408408135 | THBD | c.220C>G (p.Leu74Val)
| gnomAD v4 |
| 20 | g.23049285G= | CA2355681496 | THBD | c.220C= (p.Leu74=)
| |
| 20 | g.23049285G>T | CA408408136 | THBD | c.220C>A (p.Leu74Ile)
| gnomAD v4 |
| 20 | g.23049286C>A | CA408408137 | THBD | c.219G>T (p.Leu73Phe)
| gnomAD v4 |
| 20 | g.23049286C>G | CA408408138 | THBD | c.219G>C (p.Leu73Phe)
| |
| 20 | g.23049286C>T | CA510161077 | THBD | c.219G>A (p.Leu73=)
| gnomAD v4 |
| 20 | g.23049287A= | CA2355681497 | THBD | c.218T= (p.Leu73=)
| |
| 20 | g.23049287A>C | CA408408139 | THBD | c.218T>G (p.Leu73Trp)
| |
| 20 | g.23049287A>G | CA313552355 | THBD | c.218T>C (p.Leu73Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049287A>T | CA408408140 | THBD | c.218T>A (p.Leu73Ter)
| |
| 20 | g.23049288A>C | CA408408141 | THBD | c.217T>G (p.Leu73Val)
| |
| 20 | g.23049288A>G | CA510161082 | THBD | c.217T>C (p.Leu73=)
| gnomAD v4 |
| 20 | g.23049288A>T | CA408408142 | THBD | c.217T>A (p.Leu73Met)
| |
| 20 | g.23049288_23049289delinsAG | CA2355681498 | THBD | c.216_217delinsCT (p.Ser72=)
| |
| 20 | g.23049289G>A | CA510161088 | THBD | c.216C>T (p.Ser72=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049289G>C | CA510161087 | THBD | c.216C>G (p.Ser72=)
| |
| 20 | g.23049289G= | CA2355681500 | THBD | c.216C= (p.Ser72=)
| |
| 20 | g.23049289G>T | CA510161086 | THBD | c.216C>A (p.Ser72=)
| gnomAD v4 |
| 20 | g.23049290del | CA2355681499 | THBD | c.216del (p.Leu73CysfsTer3)
| dbSNP |
| 20 | g.23049290G>A | CA408408143 | THBD | c.215C>T (p.Ser72Phe)
| dbSNP gnomAD v4 |
| 20 | g.23049290G>C | CA408408144 | THBD | c.215C>G (p.Ser72Cys)
| |
| 20 | g.23049290G= | CA2355681501 | THBD | c.215C= (p.Ser72=)
| |
| 20 | g.23049290G>T | CA408408145 | THBD | c.215C>A (p.Ser72Tyr)
| gnomAD v4 |
| 20 | g.23049291A>C | CA408408146 | THBD | c.214T>G (p.Ser72Ala)
| |
| 20 | g.23049291A>G | CA408408147 | THBD | c.214T>C (p.Ser72Pro)
| gnomAD v4 |
| 20 | g.23049291A>T | CA408408148 | THBD | c.214T>A (p.Ser72Thr)
| |
| 20 | g.23049292A>C | CA408408149 | THBD | c.213T>G (p.Ile71Met)
| |
| 20 | g.23049292A>G | CA510161092 | THBD | c.213T>C (p.Ile71=)
| |
| 20 | g.23049292A>T | CA510161093 | THBD | c.213T>A (p.Ile71=)
| |
| 20 | g.23049293A>C | CA408408152 | THBD | c.212T>G (p.Ile71Ser)
| |
| 20 | g.23049293A>G | CA408408151 | THBD | c.212T>C (p.Ile71Thr)
| |
| 20 | g.23049293A>T | CA408408150 | THBD | c.212T>A (p.Ile71Asn)
| |
| 20 | g.23049294T>A | CA9787771 | THBD | c.211A>T (p.Ile71Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049294T>C | CA408408154 | THBD | c.211A>G (p.Ile71Val)
| dbSNP |
| 20 | g.23049294T>G | CA408408153 | THBD | c.211A>C (p.Ile71Leu)
| |
| 20 | g.23049294T= | CA2355681502 | THBD | c.211A= (p.Ile71=)
| |
| 20 | g.23049295G>A | CA510161099 | THBD | c.210C>T (p.Val70=)
| |
| 20 | g.23049295G>C | CA510161100 | THBD | c.210C>G (p.Val70=)
| |
| 20 | g.23049295G= | CA2355681503 | THBD | c.210C= (p.Val70=)
| |
| 20 | g.23049295G>T | CA510161101 | THBD | c.210C>A (p.Val70=)
| dbSNP gnomAD v4 |
| 20 | g.23049296A>C | CA408408155 | THBD | c.209T>G (p.Val70Gly)
| |
| 20 | g.23049296A>G | CA408408156 | THBD | c.209T>C (p.Val70Ala)
| gnomAD v4 |
| 20 | g.23049296A>T | CA408408157 | THBD | c.209T>A (p.Val70Asp)
| |
| 20 | g.23049297C>A | CA408408158 | THBD | c.208G>T (p.Val70Phe)
| gnomAD v4 |
| 20 | g.23049297C>G | CA408408159 | THBD | c.208G>C (p.Val70Leu)
| |
| 20 | g.23049297C>T | CA408408160 | THBD | c.208G>A (p.Val70Ile)
| |
| 20 | g.23049298A= | CA2355681504 | THBD | c.207T= (p.Asp69=)
| |
| 20 | g.23049298A>C | CA408408161 | THBD | c.207T>G (p.Asp69Glu)
| |
| 20 | g.23049298A>G | CA510161104 | THBD | c.207T>C (p.Asp69=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049298A>T | CA408408162 | THBD | c.207T>A (p.Asp69Glu)
| |
| 20 | g.23049299T>A | CA408408163 | THBD | c.206A>T (p.Asp69Val)
| gnomAD v4 |
| 20 | g.23049299T>C | CA408408164 | THBD | c.206A>G (p.Asp69Gly)
| |
| 20 | g.23049299T>G | CA408408165 | THBD | c.206A>C (p.Asp69Ala)
| |
| 20 | g.23049300C>A | CA408408168 | THBD | c.205G>T (p.Asp69Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049300C= | CA2355681505 | THBD | c.205G= (p.Asp69=)
| |
| 20 | g.23049300C>G | CA408408166 | THBD | c.205G>C (p.Asp69His)
| |
| 20 | g.23049300C>T | CA408408167 | THBD | c.205G>A (p.Asp69Asn)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23049301G>A | CA9787772 | THBD | c.204C>T (p.Ala68=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049301G>C | CA510161106 | THBD | c.204C>G (p.Ala68=)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23049301G= | CA2355681506 | THBD | c.204C= (p.Ala68=)
| |
| 20 | g.23049301G>T | CA313552368 | THBD | c.204C>A (p.Ala68=)
| dbSNP gnomAD v4 |
| 20 | g.23049302del | CA2652141673 | THBD | c.204del (p.Asp69MetfsTer7)
| gnomAD v4 |
| 20 | g.23049302G>A | CA408408169 | THBD | c.203C>T (p.Ala68Val)
| gnomAD v4 |
| 20 | g.23049302G>C | CA408408170 | THBD | c.203C>G (p.Ala68Gly)
| |
| 20 | g.23049302G>T | CA408408171 | THBD | c.203C>A (p.Ala68Asp)
| |
| 20 | g.23049303C>A | CA408408172 | THBD | c.202G>T (p.Ala68Ser)
| gnomAD v4 |
| 20 | g.23049303C>G | CA408408173 | THBD | c.202G>C (p.Ala68Pro)
| |
| 20 | g.23049303C>T | CA408408174 | THBD | c.202G>A (p.Ala68Thr)
| gnomAD v4 |
| 20 | g.23049304A>C | CA510161107 | THBD | c.201T>G (p.Ala67=)
| |
| 20 | g.23049304A>G | CA510161108 | THBD | c.201T>C (p.Ala67=)
| gnomAD v4 |
| 20 | g.23049304A>T | CA510161109 | THBD | c.201T>A (p.Ala67=)
| |
| 20 | g.23049305G>A | CA408408175 | THBD | c.200C>T (p.Ala67Val)
| ClinVar gnomAD v4 |
| 20 | g.23049305G>C | CA408408176 | THBD | c.200C>G (p.Ala67Gly)
| |
| 20 | g.23049305G= | CA2355681507 | THBD | c.200C= (p.Ala67=)
| |
| 20 | g.23049305G>T | CA9787773 | THBD | c.200C>A (p.Ala67Asp)
| dbSNP ExAC gnomAD v4 |
| 20 | g.23049305_23049306delinsGC | CA2355681508 | THBD | c.199_200delinsGC (p.Ala67=)
| |
| 20 | g.23049306C>A | CA408408178 | THBD | c.199G>T (p.Ala67Ser)
| gnomAD v4 |
| 20 | g.23049306C>G | CA408408179 | THBD | c.199G>C (p.Ala67Pro)
| dbSNP gnomAD v4 |
| 20 | g.23049306C>T | CA408408177 | THBD | c.199G>A (p.Ala67Thr)
| gnomAD v4 |
| 20 | g.23049307del | CA742235565 | THBD | c.199del (p.Ala67LeufsTer9)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049307C>A | CA510161110 | THBD | c.198G>T (p.Val66=)
| gnomAD v4 |
| 20 | g.23049307C>G | CA510161111 | THBD | c.198G>C (p.Val66=)
| |
| 20 | g.23049307C>T | CA510161112 | THBD | c.198G>A (p.Val66=)
| |
| 20 | g.23049308A>C | CA408408180 | THBD | c.197T>G (p.Val66Gly)
| |
| 20 | g.23049308A>G | CA408408181 | THBD | c.197T>C (p.Val66Ala)
| gnomAD v4 |
| 20 | g.23049308A>T | CA408408182 | THBD | c.197T>A (p.Val66Glu)
| |
| 20 | g.23049309C>A | CA408408183 | THBD | c.196G>T (p.Val66Leu)
| gnomAD v4 |
| 20 | g.23049309C= | CA2355681509 | THBD | c.196G= (p.Val66=)
| |
| 20 | g.23049309C>G | CA408408184 | THBD | c.196G>C (p.Val66Leu)
| gnomAD v4 |
| 20 | g.23049309C>T | CA408408185 | THBD | c.196G>A (p.Val66Met)
| dbSNP gnomAD v4 |
| 20 | g.23049310C>A | CA510161113 | THBD | c.195G>T (p.Ser65=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049310C= | CA2355681510 | THBD | c.195G= (p.Ser65=)
| |
| 20 | g.23049310C>G | CA510161115 | THBD | c.195G>C (p.Ser65=)
| gnomAD v4 |
| 20 | g.23049310C>T | CA510161114 | THBD | c.195G>A (p.Ser65=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049311G>A | CA408408186 | THBD | c.194C>T (p.Ser65Leu)
| dbSNP gnomAD v4 |
| 20 | g.23049311G>C | CA408408187 | THBD | c.194C>G (p.Ser65Trp)
| |
| 20 | g.23049311G= | CA2355681511 | THBD | c.194C= (p.Ser65=)
| |
| 20 | g.23049311G>T | CA408408188 | THBD | c.194C>A (p.Ser65Ter)
| gnomAD v4 |
| 20 | g.23049312A>C | CA408408189 | THBD | c.193T>G (p.Ser65Ala)
| |
| 20 | g.23049312A>G | CA408408190 | THBD | c.193T>C (p.Ser65Pro)
| |
| 20 | g.23049312A>T | CA408408191 | THBD | c.193T>A (p.Ser65Thr)
| |
| 20 | g.23049313G>A | CA510161116 | THBD | c.192C>T (p.Ser64=)
| gnomAD v4 |
| 20 | g.23049313G>C | CA510161117 | THBD | c.192C>G (p.Ser64=)
| |
| 20 | g.23049313G>T | CA510161118 | THBD | c.192C>A (p.Ser64=)
| |
| 20 | g.23049314G>A | CA408408193 | THBD | c.191C>T (p.Ser64Phe)
| gnomAD v4 |
| 20 | g.23049314G>C | CA408408194 | THBD | c.191C>G (p.Ser64Cys)
| gnomAD v4 |
| 20 | g.23049314G>T | CA408408192 | THBD | c.191C>A (p.Ser64Tyr)
| gnomAD v4 |
| 20 | g.23049315A>C | CA408408195 | THBD | c.190T>G (p.Ser64Ala)
| |
| 20 | g.23049315A>G | CA408408196 | THBD | c.190T>C (p.Ser64Pro)
| |
| 20 | g.23049315A>T | CA408408197 | THBD | c.190T>A (p.Ser64Thr)
| |
| 20 | g.23049316G>A | CA510161119 | THBD | c.189C>T (p.Arg63=)
| gnomAD v4 |
| 20 | g.23049316G>C | CA510161120 | THBD | c.189C>G (p.Arg63=)
| |
| 20 | g.23049316G>T | CA510161121 | THBD | c.189C>A (p.Arg63=)
| gnomAD v4 |
| 20 | g.23049317C>A | CA408408198 | THBD | c.188G>T (p.Arg63Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049317C= | CA2355681512 | THBD | c.188G= (p.Arg63=)
| |
| 20 | g.23049317C>G | CA408408199 | THBD | c.188G>C (p.Arg63Pro)
| gnomAD v4 |
| 20 | g.23049317C>T | CA408408200 | THBD | c.188G>A (p.Arg63His)
| gnomAD v4 |
| 20 | g.23049318G>A | CA408408201 | THBD | c.187C>T (p.Arg63Cys)
| gnomAD v4 |
| 20 | g.23049318G>C | CA408408203 | THBD | c.187C>G (p.Arg63Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049318G= | CA2355681513 | THBD | c.187C= (p.Arg63=)
| |
| 20 | g.23049318G>T | CA408408202 | THBD | c.187C>A (p.Arg63Ser)
| gnomAD v4 |
| 20 | g.23049319C>A | CA510161122 | THBD | c.186G>T (p.Val62=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049319C= | CA2355681514 | THBD | c.186G= (p.Val62=)
| |
| 20 | g.23049319C>G | CA510161123 | THBD | c.186G>C (p.Val62=)
| |
| 20 | g.23049319C>T | CA9787774 | THBD | c.186G>A (p.Val62=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049320A>C | CA408408204 | THBD | c.185T>G (p.Val62Gly)
| |
| 20 | g.23049320A>G | CA408408205 | THBD | c.185T>C (p.Val62Ala)
| gnomAD v4 |
| 20 | g.23049320A>T | CA408408206 | THBD | c.185T>A (p.Val62Glu)
| |
| 20 | g.23049321C>A | CA408408208 | THBD | c.184G>T (p.Val62Leu)
| ClinVar |
| 20 | g.23049321C= | CA2355681515 | THBD | c.184G= (p.Val62=)
| |
| 20 | g.23049321C>G | CA408408207 | THBD | c.184G>C (p.Val62Leu)
| |
| 20 | g.23049321C>T | CA9787775 | THBD | c.184G>A (p.Val62Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049322T>A | CA510161124 | THBD | c.183A>T (p.Thr61=)
| |
| 20 | g.23049322T>C | CA510161125 | THBD | c.183A>G (p.Thr61=)
| |
| 20 | g.23049322T>G | CA510161126 | THBD | c.183A>C (p.Thr61=)
| |
| 20 | g.23049323G>A | CA408408209 | THBD | c.182C>T (p.Thr61Ile)
| gnomAD v4 COSMIC |
| 20 | g.23049323G>C | CA408408211 | THBD | c.182C>G (p.Thr61Arg)
| |
| 20 | g.23049323G>T | CA408408210 | THBD | c.182C>A (p.Thr61Lys)
| gnomAD v4 |
| 20 | g.23049324T>A | CA9787776 | THBD | c.181A>T (p.Thr61Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049324T>C | CA408408213 | THBD | c.181A>G (p.Thr61Ala)
| gnomAD v4 |
| 20 | g.23049324T>G | CA408408212 | THBD | c.181A>C (p.Thr61Pro)
| |
| 20 | g.23049324T= | CA2355681516 | THBD | c.181A= (p.Thr61=)
| |
| 20 | g.23049325C>A | CA408408214 | THBD | c.180G>T (p.Met60Ile)
| gnomAD v4 |
| 20 | g.23049325C>G | CA408408215 | THBD | c.180G>C (p.Met60Ile)
| |
| 20 | g.23049325C>T | CA408408216 | THBD | c.180G>A (p.Met60Ile)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23049326A= | CA2355681517 | THBD | c.179T= (p.Met60=)
| |
| 20 | g.23049326A>C | CA408408217 | THBD | c.179T>G (p.Met60Arg)
| |
| 20 | g.23049326A>G | CA408408218 | THBD | c.179T>C (p.Met60Thr)
| gnomAD v4 |
| 20 | g.23049326A>T | CA9787777 | THBD | c.179T>A (p.Met60Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049327T>A | CA408408219 | THBD | c.178A>T (p.Met60Leu)
| |
| 20 | g.23049327T>C | CA408408220 | THBD | c.178A>G (p.Met60Val)
| dbSNP gnomAD v4 |
| 20 | g.23049327T>G | CA408408221 | THBD | c.178A>C (p.Met60Leu)
| |
| 20 | g.23049327T= | CA2355681518 | THBD | c.178A= (p.Met60=)
| |
| 20 | g.23049328T>A | CA510161127 | THBD | c.177A>T (p.Leu59=)
| |
| 20 | g.23049328T>C | CA9787778 | THBD | c.177A>G (p.Leu59=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049328T>G | CA510161128 | THBD | c.177A>C (p.Leu59=)
| |
| 20 | g.23049328T= | CA2355681519 | THBD | c.177A= (p.Leu59=)
| |
| 20 | g.23049329A>C | CA408408224 | THBD | c.176T>G (p.Leu59Arg)
| |
| 20 | g.23049329A>G | CA408408223 | THBD | c.176T>C (p.Leu59Pro)
| |
| 20 | g.23049329A>T | CA408408222 | THBD | c.176T>A (p.Leu59Gln)
| |
| 20 | g.23049330G>A | CA510161129 | THBD | c.175C>T (p.Leu59=)
| gnomAD v4 |
| 20 | g.23049330G>C | CA408408225 | THBD | c.175C>G (p.Leu59Val)
| gnomAD v4 |
| 20 | g.23049330G>T | CA408408226 | THBD | c.175C>A (p.Leu59Ile)
| gnomAD v4 |
| 20 | g.23049331G>A | CA313552429 | THBD | c.174C>T (p.His58=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049331G>C | CA408408227 | THBD | c.174C>G (p.His58Gln)
| |
| 20 | g.23049331G= | CA2355681520 | THBD | c.174C= (p.His58=)
| |
| 20 | g.23049331G>T | CA408408228 | THBD | c.174C>A (p.His58Gln)
| gnomAD v4 |
| 20 | g.23049332T>A | CA408408229 | THBD | c.173A>T (p.His58Leu)
| gnomAD v4 |
| 20 | g.23049332T>C | CA408408230 | THBD | c.173A>G (p.His58Arg)
| |
| 20 | g.23049332T>G | CA408408231 | THBD | c.173A>C (p.His58Pro)
| |
| 20 | g.23049333G>A | CA9787779 | THBD | c.172C>T (p.His58Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049333G>C | CA408408232 | THBD | c.172C>G (p.His58Asp)
| |
| 20 | g.23049333G= | CA2355681521 | THBD | c.172C= (p.His58=)
| |
| 20 | g.23049333G>T | CA408408233 | THBD | c.172C>A (p.His58Asn)
| gnomAD v4 |
| 20 | g.23049334G>A | CA510161130 | THBD | c.171C>T (p.Gly57=)
| gnomAD v4 |
| 20 | g.23049334G>C | CA510161131 | THBD | c.171C>G (p.Gly57=)
| |
| 20 | g.23049334G= | CA2355681522 | THBD | c.171C= (p.Gly57=)
| |
| 20 | g.23049334G>T | CA9787780 | THBD | c.171C>A (p.Gly57=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049335C>A | CA408408235 | THBD | c.170G>T (p.Gly57Val)
| gnomAD v4 |
| 20 | g.23049335C= | CA2355681523 | THBD | c.170G= (p.Gly57=)
| |
| 20 | g.23049335C>G | CA408408236 | THBD | c.170G>C (p.Gly57Ala)
| |
| 20 | g.23049335C>T | CA408408234 | THBD | c.170G>A (p.Gly57Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049338del | CA2652141674 | THBD | c.170del (p.Gly57AlafsTer3)
| gnomAD v4 |
| 20 | g.23049336C>A | CA408408237 | THBD | c.169G>T (p.Gly57Cys)
| gnomAD v4 |
| 20 | g.23049336C= | CA2355681524 | THBD | c.169G= (p.Gly57=)
| |
| 20 | g.23049336C>G | CA408408238 | THBD | c.169G>C (p.Gly57Arg)
| |
| 20 | g.23049336C>T | CA408408239 | THBD | c.169G>A (p.Gly57Ser)
| dbSNP gnomAD v2 |
| 20 | g.23049337C>A | CA510161132 | THBD | c.168G>T (p.Arg56=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049337C= | CA2355681525 | THBD | c.168G= (p.Arg56=)
| |
| 20 | g.23049337C>G | CA510161133 | THBD | c.168G>C (p.Arg56=)
| |
| 20 | g.23049337C>T | CA9787781 | THBD | c.168G>A (p.Arg56=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049338C>A | CA408408240 | THBD | c.167G>T (p.Arg56Leu)
| gnomAD v4 |
| 20 | g.23049338C= | CA2355681526 | THBD | c.167G= (p.Arg56=)
| |
| 20 | g.23049338C>G | CA408408241 | THBD | c.167G>C (p.Arg56Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049338C>T | CA408408242 | THBD | c.167G>A (p.Arg56Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049339G>A | CA9787782 | THBD | c.166C>T (p.Arg56Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049339G>C | CA408408243 | THBD | c.166C>G (p.Arg56Gly)
| |
| 20 | g.23049339G= | CA2355681527 | THBD | c.166C= (p.Arg56=)
| |
| 20 | g.23049339G>T | CA510161134 | THBD | c.166C>A (p.Arg56=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049340C>A | CA510161135 | THBD | c.165G>T (p.Leu55=)
| gnomAD v4 |
| 20 | g.23049340C>G | CA510161136 | THBD | c.165G>C (p.Leu55=)
| |
| 20 | g.23049340C>T | CA510161137 | THBD | c.165G>A (p.Leu55=)
| gnomAD v4 |
| 20 | g.23049341A= | CA2355681528 | THBD | c.164T= (p.Leu55=)
| |
| 20 | g.23049341A>C | CA408408244 | THBD | c.164T>G (p.Leu55Arg)
| gnomAD v4 |
| 20 | g.23049341A>G | CA408408245 | THBD | c.164T>C (p.Leu55Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049341A>T | CA408408246 | THBD | c.164T>A (p.Leu55Gln)
| gnomAD v4 |
| 20 | g.23049342G>A | CA510161138 | THBD | c.163C>T (p.Leu55=)
| gnomAD v4 |
| 20 | g.23049342G>C | CA408408248 | THBD | c.163C>G (p.Leu55Val)
| |
| 20 | g.23049342G>T | CA408408247 | THBD | c.163C>A (p.Leu55Met)
| gnomAD v4 |
