| 20 | g.23047731G>T | CA2652141586 | THBD | c.*46C>A (n.*46C>A)
| gnomAD v4 |
| 20 | g.23047731_23047732insCTCC | CA2652141587 | THBD | c.*45_*46insGGAG (n.*45_*46insGGAG)
| gnomAD v4 |
| 20 | g.23047732A>G | CA2652141588 | THBD | c.*45T>C (n.*45T>C)
| gnomAD v4 |
| 20 | g.23047732A>T | CA2652141589 | THBD | c.*45T>A (n.*45T>A)
| gnomAD v4 |
| 20 | g.23047733G>A | CA313549966 | THBD | c.*44C>T (n.*44C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047733G= | CA2355680676 | THBD | c.*44C= (n.*44C=)
| |
| 20 | g.23047733G>T | CA2652141590 | THBD | c.*44C>A (n.*44C>A)
| gnomAD v4 |
| 20 | g.23047734G>A | CA9787492 | THBD | c.*43C>T (n.*43C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047734G= | CA2355680677 | THBD | c.*43C= (n.*43C=)
| |
| 20 | g.23047735del | CA2652141594 | THBD | c.*42del (n.*42del)
| gnomAD v4 |
| 20 | g.23047735C>A | CA2652141591 | THBD | c.*42G>T (n.*42G>T)
| gnomAD v4 |
| 20 | g.23047735C>G | CA2652141593 | THBD | c.*42G>C (n.*42G>C)
| gnomAD v4 |
| 20 | g.23047735C>T | CA2652141592 | THBD | c.*42G>A (n.*42G>A)
| gnomAD v4 |
| 20 | g.23047736A= | CA2355680679 | THBD | c.*41T= (n.*41T=)
| |
| 20 | g.23047736A>G | CA9787494 | THBD | c.*41T>C (n.*41T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047736_23047738del | CA2652141595 | THBD | c.*39_*41del (n.*39_*41del)
| gnomAD v4 |
| 20 | g.23047736_23047754delinsACAGGCTCCTGGACGGAGC | CA2355680678 | THBD | c.*23_*41delinsGCTCCGTCCAGGAGCCTGT (n.*23_*41delinsGCTCCGTCCAGGAGCCTGT)
| |
| 20 | g.23047737C= | CA2355680680 | THBD | c.*40G= (n.*40G=)
| |
| 20 | g.23047737C>G | CA635265753 | THBD | c.*40G>C (n.*40G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047737C>T | CA2355680681 | THBD | c.*40G>A (n.*40G>A)
| dbSNP gnomAD v4 |
| 20 | g.23047754_23047771dup | CA635265752 | THBD | c.*23_*40dup (n.*23_*40dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047754_23047771del | CA9787493 | THBD | c.*23_*40del (n.*23_*40del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047738A>G | CA2652141596 | THBD | c.*39T>C (n.*39T>C)
| gnomAD v4 |
| 20 | g.23047738A>T | CA2652141597 | THBD | c.*39T>A (n.*39T>A)
| gnomAD v4 |
| 20 | g.23047739G>A | CA2652141598 | THBD | c.*38C>T (n.*38C>T)
| gnomAD v4 |
| 20 | g.23047739G>T | CA2652141599 | THBD | c.*38C>A (n.*38C>A)
| gnomAD v4 |
| 20 | g.23047739_23047740insA | CA2652141601 | THBD | c.*37_*38insT (n.*37_*38insT)
| gnomAD v4 |
| 20 | g.23047740G>A | CA2652141600 | THBD | c.*37C>T (n.*37C>T)
| gnomAD v4 |
| 20 | g.23047740G= | CA2355680682 | THBD | c.*37C= (n.*37C=)
| |
| 20 | g.23047740G>T | CA635265754 | THBD | c.*37C>A (n.*37C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047740_23047754del | CA2652141602 | THBD | c.*23_*37del (n.*23_*37del)
| gnomAD v4 |
| 20 | g.23047741C>A | CA9787496 | THBD | c.*36G>T (n.*36G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047741C= | CA2355680683 | THBD | c.*36G= (n.*36G=)
| |
| 20 | g.23047741C>T | CA9787495 | THBD | c.*36G>A (n.*36G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047742T>C | CA635265755 | THBD | c.*35A>G (n.*35A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047742T>G | CA2736434382 | THBD | c.*35A>C (n.*35A>C)
| dbSNP |
| 20 | g.23047742T= | CA2355680684 | THBD | c.*35A= (n.*35A=)
| |
| 20 | g.23047743C>A | CA2652141603 | THBD | c.*34G>T (n.*34G>T)
| gnomAD v4 |
| 20 | g.23047744C>T | CA2652141604 | THBD | c.*33G>A (n.*33G>A)
| gnomAD v4 |
| 20 | g.23047745T>C | CA1016218568 | THBD | c.*32A>G (n.*32A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047745T>G | CA2736499677 | THBD | c.*32A>C (n.*32A>C)
| dbSNP |
| 20 | g.23047745T= | CA2355680685 | THBD | c.*32A= (n.*32A=)
| |
| 20 | g.23047746G>A | CA9787497 | THBD | c.*31C>T (n.*31C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047746G>C | CA2736424044 | THBD | c.*31C>G (n.*31C>G)
| dbSNP |
| 20 | g.23047746G= | CA2355680686 | THBD | c.*31C= (n.*31C=)
| |
| 20 | g.23047746G>T | CA2652141605 | THBD | c.*31C>A (n.*31C>A)
| gnomAD v4 |
| 20 | g.23047747G>A | CA2652141606 | THBD | c.*30C>T (n.*30C>T)
| gnomAD v4 |
| 20 | g.23047747G>C | CA742233445 | THBD | c.*30C>G (n.*30C>G)
| dbSNP |
| 20 | g.23047747G= | CA2355680687 | THBD | c.*30C= (n.*30C=)
| |
| 20 | g.23047747G>T | CA2652141607 | THBD | c.*30C>A (n.*30C>A)
| gnomAD v4 |
| 20 | g.23047748A>C | CA2736672411 | THBD | c.*29T>G (n.*29T>G)
| dbSNP |
| 20 | g.23047748dup | CA2652141608 | THBD | c.*29dup (n.*29dup)
| gnomAD v4 |
| 20 | g.23047749C>A | CA2577353591 | THBD | c.*28G>T (n.*28G>T)
| gnomAD v4 |
| 20 | g.23047749C= | CA2355680688 | THBD | c.*28G= (n.*28G=)
| |
| 20 | g.23047749C>G | CA2652141609 | THBD | c.*28G>C (n.*28G>C)
| gnomAD v4 |
| 20 | g.23047749C>T | CA635265756 | THBD | c.*28G>A (n.*28G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047750G>A | CA635265757 | THBD | c.*27C>T (n.*27C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047750G>C | CA313550015 | THBD | c.*27C>G (n.*27C>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047750G= | CA2355680689 | THBD | c.*27C= (n.*27C=)
| |
| 20 | g.23047750G>T | CA9787498 | THBD | c.*27C>A (n.*27C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047751G>A | CA9787499 | THBD | c.*26C>T (n.*26C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047751G= | CA2355680690 | THBD | c.*26C= (n.*26C=)
| |
| 20 | g.23047751G>T | CA2652141610 | THBD | c.*26C>A (n.*26C>A)
| gnomAD v4 |
| 20 | g.23047752A>G | CA2652141611 | THBD | c.*25T>C (n.*25T>C)
| gnomAD v4 |
| 20 | g.23047753G>A | CA2652141612 | THBD | c.*24C>T (n.*24C>T)
| gnomAD v4 |
| 20 | g.23047753G= | CA2355680691 | THBD | c.*24C= (n.*24C=)
| |
| 20 | g.23047753G>T | CA635265758 | THBD | c.*24C>A (n.*24C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047754C>A | CA635265759 | THBD | c.*23G>T (n.*23G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047754C= | CA2355680693 | THBD | c.*23G= (n.*23G=)
| |
| 20 | g.23047754C>G | CA1016218579 | THBD | c.*23G>C (n.*23G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047754C>T | CA2652141613 | THBD | c.*23G>A (n.*23G>A)
| gnomAD v4 |
| 20 | g.23047754_23047772delinsCCAGGCTCCTGGACGGAGG | CA2355680692 | THBD | c.*5_*23delinsCCTCCGTCCAGGAGCCTGG (n.*5_*23delinsCCTCCGTCCAGGAGCCTGG)
| |
| 20 | g.23047756_23047773del | CA9787500 | THBD | c.*5_*22del (n.*5_*22del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047756A= | CA2355680694 | THBD | c.*21T= (n.*21T=)
| |
| 20 | g.23047756A>C | CA2577353592 | THBD | c.*21T>G (n.*21T>G)
| |
| 20 | g.23047756A>G | CA2652141614 | THBD | c.*21T>C (n.*21T>C)
| gnomAD v4 |
| 20 | g.23047756A>T | CA635265760 | THBD | c.*21T>A (n.*21T>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047757G>A | CA2652141616 | THBD | c.*20C>T (n.*20C>T)
| gnomAD v4 |
| 20 | g.23047757G>C | CA2652141615 | THBD | c.*20C>G (n.*20C>G)
| gnomAD v4 |
| 20 | g.23047757G= | CA2355680695 | THBD | c.*20C= (n.*20C=)
| |
| 20 | g.23047757G>T | CA9787501 | THBD | c.*20C>A (n.*20C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047758G>A | CA635265761 | THBD | c.*19C>T (n.*19C>T)
| dbSNP gnomAD v2 |
| 20 | g.23047758G= | CA2355680696 | THBD | c.*19C= (n.*19C=)
| |
| 20 | g.23047758G>T | CA2652141617 | THBD | c.*19C>A (n.*19C>A)
| gnomAD v4 |
| 20 | g.23047759C>A | CA635265762 | THBD | c.*18G>T (n.*18G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047759C= | CA2355680697 | THBD | c.*18G= (n.*18G=)
| |
| 20 | g.23047759C>G | CA2577353593 | THBD | c.*18G>C (n.*18G>C)
| |
| 20 | g.23047759C>T | CA635265763 | THBD | c.*18G>A (n.*18G>A)
| dbSNP gnomAD v2 |
| 20 | g.23047760T>G | CA2652141618 | THBD | c.*17A>C (n.*17A>C)
| gnomAD v4 |
| 20 | g.23047761C= | CA2355680698 | THBD | c.*16G= (n.*16G=)
| |
| 20 | g.23047761C>T | CA313550049 | THBD | c.*16G>A (n.*16G>A)
| dbSNP |
| 20 | g.23047762C>A | CA2652141619 | THBD | c.*15G>T (n.*15G>T)
| gnomAD v4 |
| 20 | g.23047762C= | CA2355680699 | THBD | c.*15G= (n.*15G=)
| |
| 20 | g.23047762C>T | CA2355680700 | THBD | c.*15G>A (n.*15G>A)
| dbSNP gnomAD v4 |
| 20 | g.23047762_23047763insAGCTT | CA2504450523 | THBD | c.*14_*15insAAGCT (n.*14_*15insAAGCT)
| |
| 20 | g.23047763T>C | CA635265764 | THBD | c.*14A>G (n.*14A>G)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047763T= | CA2355680701 | THBD | c.*14A= (n.*14A=)
| |
| 20 | g.23047764G>A | CA2652141621 | THBD | c.*13C>T (n.*13C>T)
| gnomAD v4 |
| 20 | g.23047764G>T | CA2652141620 | THBD | c.*13C>A (n.*13C>A)
| gnomAD v4 |
| 20 | g.23047765G>A | CA2652141622 | THBD | c.*12C>T (n.*12C>T)
| gnomAD v4 |
| 20 | g.23047765G>T | CA2652141623 | THBD | c.*12C>A (n.*12C>A)
| gnomAD v4 |
| 20 | g.23047766A= | CA2355680702 | THBD | c.*11T= (n.*11T=)
| |
| 20 | g.23047766A>G | CA1016218584 | THBD | c.*11T>C (n.*11T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047767C>A | CA2577353594 | THBD | c.*10G>T (n.*10G>T)
| gnomAD v4 |
| 20 | g.23047767C= | CA2355680703 | THBD | c.*10G= (n.*10G=)
| |
| 20 | g.23047767C>G | CA635265765 | THBD | c.*10G>C (n.*10G>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047767C>T | CA313550059 | THBD | c.*10G>A (n.*10G>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047768G>A | CA313550062 | THBD | c.*9C>T (n.*9C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047768G>C | CA9787502 | THBD | c.*9C>G (n.*9C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047768G= | CA2355680704 | THBD | c.*9C= (n.*9C=)
| |
| 20 | g.23047768G>T | CA2652141624 | THBD | c.*9C>A (n.*9C>A)
| gnomAD v4 |
| 20 | g.23047769G>A | CA2652141625 | THBD | c.*8C>T (n.*8C>T)
| gnomAD v4 |
| 20 | g.23047769G>C | CA313550069 | THBD | c.*8C>G (n.*8C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047769G= | CA2355680705 | THBD | c.*8C= (n.*8C=)
| |
| 20 | g.23047769G>T | CA2652141626 | THBD | c.*8C>A (n.*8C>A)
| gnomAD v4 |
| 20 | g.23047770A>G | CA2652141627 | THBD | c.*7T>C (n.*7T>C)
| gnomAD v4 |
| 20 | g.23047771G>A | CA635265766 | THBD | c.*6C>T (n.*6C>T)
| dbSNP gnomAD v2 |
| 20 | g.23047771G= | CA2355680706 | THBD | c.*6C= (n.*6C=)
| |
| 20 | g.23047771G>T | CA2577353595 | THBD | c.*6C>A (n.*6C>A)
| |
| 20 | g.23047772G>C | CA2355680707 | THBD | c.*5C>G (n.*5C>G)
| dbSNP |
| 20 | g.23047772G= | CA2355680708 | THBD | c.*5C= (n.*5C=)
| |
| 20 | g.23047773C>A | CA313550080 | THBD | c.*4G>T (n.*4G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047773C= | CA2355680709 | THBD | c.*4G= (n.*4G=)
| |
| 20 | g.23047773C>T | CA2652141628 | THBD | c.*4G>A (n.*4G>A)
| gnomAD v4 |
| 20 | g.23047774C>A | CA313550106 | THBD | c.*3G>T (n.*3G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047774C= | CA2355680710 | THBD | c.*3G= (n.*3G=)
| |
| 20 | g.23047774C>G | CA9787503 | THBD | c.*3G>C (n.*3G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047774C>T | CA313550120 | THBD | c.*3G>A (n.*3G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047775G>A | CA2355680711 | THBD | c.*2C>T (n.*2C>T)
| dbSNP gnomAD v4 |
| 20 | g.23047775G= | CA2355680712 | THBD | c.*2C= (n.*2C=)
| |
| 20 | g.23047775G>T | CA2652141629 | THBD | c.*2C>A (n.*2C>A)
| gnomAD v4 |
| 20 | g.23047776C>A | CA1139666668 | THBD | c.*1G>T (n.*1G>T)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23047776C= | CA2355680713 | THBD | c.*1G= (n.*1G=)
| |
| 20 | g.23047776C>G | CA2652141631 | THBD | c.*1G>C (n.*1G>C)
| gnomAD v4 |
| 20 | g.23047776C>T | CA2652141630 | THBD | c.*1G>A (n.*1G>A)
| gnomAD v4 |
| 20 | g.23047777T>A | CA408404939 | THBD | c.1728A>T (p.Ter576Cys)
| gnomAD v4 |
| 20 | g.23047777T>C | CA408404937 | THBD | c.1728A>G (p.Ter576Trp)
| gnomAD v4 |
| 20 | g.23047777T>G | CA408404938 | THBD | c.1728A>C (p.Ter576Cys)
| |
| 20 | g.23047778C>A | CA408404940 | THBD | c.1727G>T (p.Ter576Leu)
| gnomAD v4 |
| 20 | g.23047778C>G | CA408404941 | THBD | c.1727G>C (p.Ter576Ser)
| |
| 20 | g.23047778C>T | CA510160323 | THBD | c.1727G>A (p.Ter576=)
| gnomAD v4 |
| 20 | g.23047779A= | CA2355680714 | THBD | c.1726T= (p.Ter576=)
| |
| 20 | g.23047779A>C | CA408404942 | THBD | c.1726T>G (p.Ter576Gly)
| |
| 20 | g.23047779A>G | CA408404943 | THBD | c.1726T>C (p.Ter576Arg)
| |
| 20 | g.23047779A>T | CA313550130 | THBD | c.1726T>A (p.Ter576Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047780G>A | CA510160327 | THBD | c.1725C>T (p.Leu575=)
| |
| 20 | g.23047780G>C | CA510160328 | THBD | c.1725C>G (p.Leu575=)
| |
| 20 | g.23047780G>T | CA510160331 | THBD | c.1725C>A (p.Leu575=)
| gnomAD v4 |
| 20 | g.23047781A= | CA2355680715 | THBD | c.1724T= (p.Leu575=)
| |
| 20 | g.23047781A>C | CA9787504 | THBD | c.1724T>G (p.Leu575Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047781A>G | CA408404944 | THBD | c.1724T>C (p.Leu575Pro)
| gnomAD v4 |
| 20 | g.23047781A>T | CA408404945 | THBD | c.1724T>A (p.Leu575His)
| |
| 20 | g.23047782G>A | CA313550133 | THBD | c.1723C>T (p.Leu575Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047782G>C | CA408404946 | THBD | c.1723C>G (p.Leu575Val)
| |
| 20 | g.23047782G= | CA2355680716 | THBD | c.1723C= (p.Leu575=)
| |
| 20 | g.23047782G>T | CA408404947 | THBD | c.1723C>A (p.Leu575Ile)
| |
| 20 | g.23047782_23047784delinsGTC | CA2355680717 | THBD | c.1721_1723delinsGAC (p.Arg574=)
| |
| 20 | g.23047783T>A | CA408404949 | THBD | c.1722A>T (p.Arg574Ser)
| |
| 20 | g.23047783T>C | CA510160336 | THBD | c.1722A>G (p.Arg574=)
| |
| 20 | g.23047783T>G | CA408404948 | THBD | c.1722A>C (p.Arg574Ser)
| |
| 20 | g.23047786_23047787del | CA2355680718 | THBD | c.1721_1722del (p.Arg574ThrfsTer?)
| dbSNP |
| 20 | g.23047784C>A | CA313550135 | THBD | c.1721G>T (p.Arg574Ile)
| dbSNP gnomAD v4 |
| 20 | g.23047784C= | CA2355680719 | THBD | c.1721G= (p.Arg574=)
| |
| 20 | g.23047784C>G | CA408404950 | THBD | c.1721G>C (p.Arg574Thr)
| |
| 20 | g.23047784C>T | CA408404951 | THBD | c.1721G>A (p.Arg574Lys)
| COSMIC |
| 20 | g.23047785T>A | CA408404952 | THBD | c.1720A>T (p.Arg574Ter)
| |
| 20 | g.23047785T>C | CA408404953 | THBD | c.1720A>G (p.Arg574Gly)
| gnomAD v4 |
| 20 | g.23047785T>G | CA510160341 | THBD | c.1720A>C (p.Arg574=)
| |
| 20 | g.23047786C>A | CA408404954 | THBD | c.1719G>T (p.Gln573His)
| gnomAD v4 |
| 20 | g.23047786C>G | CA408404955 | THBD | c.1719G>C (p.Gln573His)
| |
| 20 | g.23047786C>T | CA510160343 | THBD | c.1719G>A (p.Gln573=)
| |
| 20 | g.23047787T>A | CA408404956 | THBD | c.1718A>T (p.Gln573Leu)
| gnomAD v4 |
| 20 | g.23047787T>C | CA408404957 | THBD | c.1718A>G (p.Gln573Arg)
| gnomAD v4 |
| 20 | g.23047787T>G | CA408404958 | THBD | c.1718A>C (p.Gln573Pro)
| |
| 20 | g.23047788G>A | CA408404959 | THBD | c.1717C>T (p.Gln573Ter)
| dbSNP gnomAD v4 |
| 20 | g.23047788G>C | CA408404960 | THBD | c.1717C>G (p.Gln573Glu)
| |
| 20 | g.23047788G= | CA2355680721 | THBD | c.1717C= (p.Gln573=)
| |
| 20 | g.23047788G>T | CA408404961 | THBD | c.1717C>A (p.Gln573Lys)
| gnomAD v4 |
| 20 | g.23047788_23047808delinsGCGGCGTCCGCTCGGTCCGCA | CA2355680720 | THBD | c.1697_1717delinsTGCGGACCGAGCGGACGCCGC (p.Val566=)
| |
| 20 | g.23047789C>A | CA510160353 | THBD | c.1716G>T (p.Pro572=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047789C= | CA2355680722 | THBD | c.1716G= (p.Pro572=)
| |
| 20 | g.23047789C>G | CA510160354 | THBD | c.1716G>C (p.Pro572=)
| gnomAD v4 |
| 20 | g.23047789C>T | CA510160355 | THBD | c.1716G>A (p.Pro572=)
| gnomAD v4 |
| 20 | g.23047791_23047810del | CA635265767 | THBD | c.1697_1716del (p.Val566AlafsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047790G>A | CA313550140 | THBD | c.1715C>T (p.Pro572Leu)
| dbSNP gnomAD v4 |
| 20 | g.23047790G>C | CA408404962 | THBD | c.1715C>G (p.Pro572Arg)
| gnomAD v4 |
| 20 | g.23047790G= | CA2355680723 | THBD | c.1715C= (p.Pro572=)
| |
| 20 | g.23047790G>T | CA408404963 | THBD | c.1715C>A (p.Pro572Gln)
| gnomAD v4 |
| 20 | g.23047791G>A | CA313550169 | THBD | c.1714C>T (p.Pro572Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047791G>C | CA408404964 | THBD | c.1714C>G (p.Pro572Ala)
| |
| 20 | g.23047791G= | CA2355680724 | THBD | c.1714C= (p.Pro572=)
| |
| 20 | g.23047791G>T | CA408404965 | THBD | c.1714C>A (p.Pro572Thr)
| gnomAD v4 |
| 20 | g.23047792C>A | CA510160361 | THBD | c.1713G>T (p.Thr571=)
| dbSNP gnomAD v4 |
| 20 | g.23047792C= | CA2355680725 | THBD | c.1713G= (p.Thr571=)
| |
| 20 | g.23047792C>G | CA510160362 | THBD | c.1713G>C (p.Thr571=)
| |
| 20 | g.23047792C>T | CA313550183 | THBD | c.1713G>A (p.Thr571=)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047794_23047797del | CA2652141632 | THBD | c.1710_1713del (p.Thr571ArgfsTer?)
| gnomAD v4 |
| 20 | g.23047793G>A | CA408404966 | THBD | c.1712C>T (p.Thr571Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047793G>C | CA408404967 | THBD | c.1712C>G (p.Thr571Arg)
| |
| 20 | g.23047793G= | CA2355680726 | THBD | c.1712C= (p.Thr571=)
| |
| 20 | g.23047793G>T | CA408404968 | THBD | c.1712C>A (p.Thr571Lys)
| gnomAD v4 |
| 20 | g.23047794T>A | CA408404969 | THBD | c.1711A>T (p.Thr571Ser)
| |
| 20 | g.23047794T>C | CA408404970 | THBD | c.1711A>G (p.Thr571Ala)
| |
| 20 | g.23047794T>G | CA408404971 | THBD | c.1711A>C (p.Thr571Pro)
| |
| 20 | g.23047795C>A | CA510160370 | THBD | c.1710G>T (p.Arg570=)
| gnomAD v4 |
| 20 | g.23047795C= | CA2355680727 | THBD | c.1710G= (p.Arg570=)
| |
| 20 | g.23047795C>G | CA510160375 | THBD | c.1710G>C (p.Arg570=)
| |
| 20 | g.23047795C>T | CA510160373 | THBD | c.1710G>A (p.Arg570=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047796del | CA2652141633 | THBD | c.1710del (p.Thr571ArgfsTer?)
| gnomAD v4 |
| 20 | g.23047796C>A | CA408404972 | THBD | c.1709G>T (p.Arg570Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047796C= | CA2355680728 | THBD | c.1709G= (p.Arg570=)
| |
| 20 | g.23047796C>G | CA408404973 | THBD | c.1709G>C (p.Arg570Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047796C>T | CA408404974 | THBD | c.1709G>A (p.Arg570Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047797_23047798del | CA2652141634 | THBD | c.1708_1709del (p.Arg570AspfsTer?)
| gnomAD v4 |
| 20 | g.23047797G>A | CA408404976 | THBD | c.1708C>T (p.Arg570Trp)
| gnomAD v4 |
| 20 | g.23047797G>C | CA408404975 | THBD | c.1708C>G (p.Arg570Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047797G= | CA2355680729 | THBD | c.1708C= (p.Arg570=)
| |
| 20 | g.23047797G>T | CA510160377 | THBD | c.1708C>A (p.Arg570=)
| dbSNP gnomAD v4 |
| 20 | g.23047798C>A | CA408404977 | THBD | c.1707G>T (p.Glu569Asp)
| |
| 20 | g.23047798C= | CA2355680730 | THBD | c.1707G= (p.Glu569=)
| |
| 20 | g.23047798C>G | CA408404978 | THBD | c.1707G>C (p.Glu569Asp)
| gnomAD v4 |
| 20 | g.23047798C>T | CA9787505 | THBD | c.1707G>A (p.Glu569=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047799T>A | CA408404979 | THBD | c.1706A>T (p.Glu569Val)
| |
| 20 | g.23047799T>C | CA408404981 | THBD | c.1706A>G (p.Glu569Gly)
| gnomAD v4 |
| 20 | g.23047799T>G | CA408404980 | THBD | c.1706A>C (p.Glu569Ala)
| |
| 20 | g.23047799T= | CA2355680732 | THBD | c.1706A= (p.Glu569=)
| |
| 20 | g.23047799_23047800delinsTC | CA2355680731 | THBD | c.1705_1706delinsGA (p.Glu569=)
| |
| 20 | g.23047800del | CA742233521 | THBD | c.1705del (p.Glu569SerfsTer?)
| dbSNP |
| 20 | g.23047800C>A | CA313550192 | THBD | c.1705G>T (p.Glu569Ter)
| dbSNP gnomAD v4 |
| 20 | g.23047800C= | CA2355680733 | THBD | c.1705G= (p.Glu569=)
| |
| 20 | g.23047800C>G | CA313550194 | THBD | c.1705G>C (p.Glu569Gln)
| ClinVar dbSNP gnomAD v4 |
| 20 | g.23047800C>T | CA408404982 | THBD | c.1705G>A (p.Glu569Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047802_23047810dup | CA2355680734 | THBD | c.1697_1705dup (p.Thr568_Glu569insValArgThr)
| dbSNP |
| 20 | g.23047801G>A | CA9787506 | THBD | c.1704C>T (p.Thr568=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047801G>C | CA9787507 | THBD | c.1704C>G (p.Thr568=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047801G= | CA2355680735 | THBD | c.1704C= (p.Thr568=)
| |
| 20 | g.23047801G>T | CA510160384 | THBD | c.1704C>A (p.Thr568=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047802G>A | CA408404983 | THBD | c.1703C>T (p.Thr568Ile)
| gnomAD v4 |
| 20 | g.23047802G>C | CA408404984 | THBD | c.1703C>G (p.Thr568Ser)
| dbSNP gnomAD v2 |
| 20 | g.23047802G= | CA2355680736 | THBD | c.1703C= (p.Thr568=)
| |
| 20 | g.23047802G>T | CA408404985 | THBD | c.1703C>A (p.Thr568Asn)
| gnomAD v4 |
| 20 | g.23047803T>A | CA408404986 | THBD | c.1702A>T (p.Thr568Ser)
| |
| 20 | g.23047803T>C | CA408404987 | THBD | c.1702A>G (p.Thr568Ala)
| |
| 20 | g.23047803T>G | CA408404988 | THBD | c.1702A>C (p.Thr568Pro)
| |
| 20 | g.23047804C>A | CA510160392 | THBD | c.1701G>T (p.Arg567=)
| gnomAD v4 |
| 20 | g.23047804C>G | CA510160394 | THBD | c.1701G>C (p.Arg567=)
| |
| 20 | g.23047804C>T | CA510160391 | THBD | c.1701G>A (p.Arg567=)
| gnomAD v4 |
| 20 | g.23047805C>A | CA408404990 | THBD | c.1700G>T (p.Arg567Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047805C= | CA2355680737 | THBD | c.1700G= (p.Arg567=)
| |
| 20 | g.23047805C>G | CA408404989 | THBD | c.1700G>C (p.Arg567Pro)
| |
| 20 | g.23047805C>T | CA9787508 | THBD | c.1700G>A (p.Arg567Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047806G>A | CA9787509 | THBD | c.1699C>T (p.Arg567Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047806G>C | CA313550227 | THBD | c.1699C>G (p.Arg567Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047806G= | CA2355680738 | THBD | c.1699C= (p.Arg567=)
| |
| 20 | g.23047806G>T | CA510160403 | THBD | c.1699C>A (p.Arg567=)
| |
| 20 | g.23047807C>A | CA510160405 | THBD | c.1698G>T (p.Val566=)
| gnomAD v4 |
| 20 | g.23047807C>G | CA510160406 | THBD | c.1698G>C (p.Val566=)
| |
| 20 | g.23047807C>T | CA510160408 | THBD | c.1698G>A (p.Val566=)
| gnomAD v4 |
| 20 | g.23047808A= | CA2355680739 | THBD | c.1697T= (p.Val566=)
| |
| 20 | g.23047808A>C | CA9787510 | THBD | c.1697T>G (p.Val566Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047808A>G | CA408404991 | THBD | c.1697T>C (p.Val566Ala)
| |
| 20 | g.23047808A>T | CA408404992 | THBD | c.1697T>A (p.Val566Glu)
| |
| 20 | g.23047808_23047809delinsAC | CA2355680740 | THBD | c.1696_1697delinsGT (p.Val566=)
| |
| 20 | g.23047809del | CA510160415 | THBD | c.1696del (p.Val566CysfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047809C>A | CA408404993 | THBD | c.1696G>T (p.Val566Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047809C= | CA2355680741 | THBD | c.1696G= (p.Val566=)
| |
| 20 | g.23047809C>G | CA408404994 | THBD | c.1696G>C (p.Val566Leu)
| |
| 20 | g.23047809C>T | CA313550244 | THBD | c.1696G>A (p.Val566Met)
| dbSNP gnomAD v4 |
| 20 | g.23047810del | CA408404997 | THBD | c.1695del (p.His565GlnfsTer?)
| |
| 20 | g.23047810G>A | CA510160417 | THBD | c.1695C>T (p.His565=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047810G>C | CA408404995 | THBD | c.1695C>G (p.His565Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047810G= | CA2355680742 | THBD | c.1695C= (p.His565=)
| |
| 20 | g.23047810G>T | CA408404996 | THBD | c.1695C>A (p.His565Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047811T>A | CA408405000 | THBD | c.1694A>T (p.His565Leu)
| |
| 20 | g.23047811T>C | CA408404999 | THBD | c.1694A>G (p.His565Arg)
| ClinVar gnomAD v4 |
| 20 | g.23047811T>G | CA408404998 | THBD | c.1694A>C (p.His565Pro)
| |
| 20 | g.23047812G>A | CA408405001 | THBD | c.1693C>T (p.His565Tyr)
| gnomAD v4 |
| 20 | g.23047812G>C | CA408405002 | THBD | c.1693C>G (p.His565Asp)
| |
| 20 | g.23047812G= | CA2355680743 | THBD | c.1693C= (p.His565=)
| |
| 20 | g.23047812G>T | CA9787511 | THBD | c.1693C>A (p.His565Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047813C>A | CA408405003 | THBD | c.1692G>T (p.Gln564His)
| gnomAD v4 |
| 20 | g.23047813C= | CA2355680744 | THBD | c.1692G= (p.Gln564=)
| |
| 20 | g.23047813C>G | CA408405004 | THBD | c.1692G>C (p.Gln564His)
| |
| 20 | g.23047813C>T | CA510160422 | THBD | c.1692G>A (p.Gln564=)
| dbSNP gnomAD v4 |
| 20 | g.23047814T>A | CA408405005 | THBD | c.1691A>T (p.Gln564Leu)
| |
| 20 | g.23047814T>C | CA408405006 | THBD | c.1691A>G (p.Gln564Arg)
| gnomAD v4 |
| 20 | g.23047814T>G | CA408405007 | THBD | c.1691A>C (p.Gln564Pro)
| |
| 20 | g.23047815G>A | CA408405008 | THBD | c.1690C>T (p.Gln564Ter)
| gnomAD v4 |
| 20 | g.23047815G>C | CA408405009 | THBD | c.1690C>G (p.Gln564Glu)
| |
| 20 | g.23047815G>T | CA408405010 | THBD | c.1690C>A (p.Gln564Lys)
| gnomAD v4 |
| 20 | g.23047816C>A | CA510160429 | THBD | c.1689G>T (p.Leu563=)
| |
| 20 | g.23047816C>G | CA510160430 | THBD | c.1689G>C (p.Leu563=)
| |
| 20 | g.23047816C>T | CA510160431 | THBD | c.1689G>A (p.Leu563=)
| |
| 20 | g.23047817A= | CA2355680745 | THBD | c.1688T= (p.Leu563=)
| |
| 20 | g.23047817A>C | CA408405011 | THBD | c.1688T>G (p.Leu563Arg)
| gnomAD v4 |
| 20 | g.23047817A>G | CA408405012 | THBD | c.1688T>C (p.Leu563Pro)
| |
| 20 | g.23047817A>T | CA408405013 | THBD | c.1688T>A (p.Leu563Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047817dup | CA2580098041 | THBD | c.1688dup (p.Gln564AlafsTer?)
| ClinVar gnomAD v4 |
| 20 | g.23047818G>A | CA510160439 | THBD | c.1687C>T (p.Leu563=)
| gnomAD v4 |
| 20 | g.23047818G>C | CA408405014 | THBD | c.1687C>G (p.Leu563Val)
| |
| 20 | g.23047818G>T | CA408405015 | THBD | c.1687C>A (p.Leu563Met)
| gnomAD v4 |
| 20 | g.23047818_23047819delinsAGG | CA2695229379 | THBD | c.1686_1687delinsCCT (p.Gln564AlafsTer?)
| |
| 20 | g.23047819C>A | CA510160448 | THBD | c.1686G>T (p.Val562=)
| |
| 20 | g.23047819C= | CA2355680746 | THBD | c.1686G= (p.Val562=)
| |
| 20 | g.23047819C>G | CA510160444 | THBD | c.1686G>C (p.Val562=)
| gnomAD v4 |
| 20 | g.23047819C>T | CA510160443 | THBD | c.1686G>A (p.Val562=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047820A= | CA2355680747 | THBD | c.1685T= (p.Val562=)
| |
| 20 | g.23047820A>C | CA408405016 | THBD | c.1685T>G (p.Val562Gly)
| |
| 20 | g.23047820A>G | CA408405017 | THBD | c.1685T>C (p.Val562Ala)
| gnomAD v4 |
| 20 | g.23047820A>T | CA408405018 | THBD | c.1685T>A (p.Val562Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047821C>A | CA408405019 | THBD | c.1684G>T (p.Val562Leu)
| gnomAD v4 |
| 20 | g.23047821C= | CA2355680748 | THBD | c.1684G= (p.Val562=)
| |
| 20 | g.23047821C>G | CA408405020 | THBD | c.1684G>C (p.Val562Leu)
| gnomAD v4 |
| 20 | g.23047821C>T | CA408405021 | THBD | c.1684G>A (p.Val562Met)
| dbSNP gnomAD v2 |
| 20 | g.23047822T>A | CA510160453 | THBD | c.1683A>T (p.Val561=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047822T>C | CA510160454 | THBD | c.1683A>G (p.Val561=)
| gnomAD v4 |
| 20 | g.23047822T>G | CA510160455 | THBD | c.1683A>C (p.Val561=)
| |
| 20 | g.23047822T= | CA2355680749 | THBD | c.1683A= (p.Val561=)
| |
| 20 | g.23047823A>C | CA408405022 | THBD | c.1682T>G (p.Val561Gly)
| |
| 20 | g.23047823A>G | CA408405023 | THBD | c.1682T>C (p.Val561Ala)
| |
| 20 | g.23047823A>T | CA408405024 | THBD | c.1682T>A (p.Val561Glu)
| |
| 20 | g.23047824C>A | CA408405025 | THBD | c.1681G>T (p.Val561Leu)
| gnomAD v4 |
| 20 | g.23047824C>G | CA408405026 | THBD | c.1681G>C (p.Val561Leu)
| |
| 20 | g.23047824C>T | CA408405027 | THBD | c.1681G>A (p.Val561Ile)
| gnomAD v4 |
| 20 | g.23047825C>A | CA408405028 | THBD | c.1680G>T (p.Glu560Asp)
| gnomAD v4 |
| 20 | g.23047825C= | CA2355680750 | THBD | c.1680G= (p.Glu560=)
| |
| 20 | g.23047825C>G | CA408405029 | THBD | c.1680G>C (p.Glu560Asp)
| |
| 20 | g.23047825C>T | CA510160458 | THBD | c.1680G>A (p.Glu560=)
| dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047826T>A | CA408405030 | THBD | c.1679A>T (p.Glu560Val)
| |
| 20 | g.23047826T>C | CA408405031 | THBD | c.1679A>G (p.Glu560Gly)
| |
| 20 | g.23047826T>G | CA408405032 | THBD | c.1679A>C (p.Glu560Ala)
| |
| 20 | g.23047827C>A | CA408405033 | THBD | c.1678G>T (p.Glu560Ter)
| gnomAD v4 |
| 20 | g.23047827C= | CA2355680751 | THBD | c.1678G= (p.Glu560=)
| |
| 20 | g.23047827C>G | CA9787512 | THBD | c.1678G>C (p.Glu560Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047827C>T | CA9787513 | THBD | c.1678G>A (p.Glu560Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047828C>A | CA408405035 | THBD | c.1677G>T (p.Lys559Asn)
| gnomAD v4 |
| 20 | g.23047828C= | CA2355680752 | THBD | c.1677G= (p.Lys559=)
| |
| 20 | g.23047828C>G | CA408405034 | THBD | c.1677G>C (p.Lys559Asn)
| |
| 20 | g.23047828C>T | CA510160467 | THBD | c.1677G>A (p.Lys559=)
| dbSNP gnomAD v2 |
| 20 | g.23047829T>A | CA408405036 | THBD | c.1676A>T (p.Lys559Met)
| gnomAD v4 |
| 20 | g.23047829T>C | CA408405037 | THBD | c.1676A>G (p.Lys559Arg)
| |
| 20 | g.23047829T>G | CA408405038 | THBD | c.1676A>C (p.Lys559Thr)
| |
| 20 | g.23047830T>A | CA408405039 | THBD | c.1675A>T (p.Lys559Ter)
| |
| 20 | g.23047830T>C | CA408405040 | THBD | c.1675A>G (p.Lys559Glu)
| dbSNP |
| 20 | g.23047830T>G | CA408405041 | THBD | c.1675A>C (p.Lys559Gln)
| |
| 20 | g.23047830T= | CA2355680753 | THBD | c.1675A= (p.Lys559=)
| |
| 20 | g.23047831G>A | CA510160475 | THBD | c.1674C>T (p.Ser558=)
| |
| 20 | g.23047831G>C | CA510160476 | THBD | c.1674C>G (p.Ser558=)
| ClinVar dbSNP |
| 20 | g.23047831G= | CA2355680754 | THBD | c.1674C= (p.Ser558=)
| |
| 20 | g.23047831G>T | CA510160477 | THBD | c.1674C>A (p.Ser558=)
| gnomAD v4 |
