Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.18269227A= | CA1955523676 | SAA1 | c.124A= (p.Met42=) | |
11 | g.18269227A>C | CA379504488 | SAA1 | c.124A>C (p.Met42Leu) | |
11 | g.18269227A>G | CA379504490 | SAA1 | c.124A>G (p.Met42Val) | dbSNP gnomAD v4 |
11 | g.18269227A>T | CA379504491 | SAA1 | c.124A>T (p.Met42Leu) | |
11 | g.18269227dup | CA2612726960 | SAA1 | c.124dup (p.Met42AsnfsTer20) | gnomAD v4 |
11 | g.18269228T>A | CA379504492 | SAA1 | c.125T>A (p.Met42Lys) | gnomAD v4 |
11 | g.18269228T>C | CA5909451 | SAA1 | c.125T>C (p.Met42Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.18269228T>G | CA379504493 | SAA1 | c.125T>G (p.Met42Arg) | |
11 | g.18269228T= | CA1955523677 | SAA1 | c.125T= (p.Met42=) | |
11 | g.18269229G>A | CA5909452 | SAA1 | c.126G>A (p.Met42Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269229G>C | CA379504495 | SAA1 | c.126G>C (p.Met42Ile) | |
11 | g.18269229G= | CA1955523678 | SAA1 | c.126G= (p.Met42=) | |
11 | g.18269229G>T | CA379504494 | SAA1 | c.126G>T (p.Met42Ile) | |
11 | g.18269230A>C | CA473366743 | SAA1 | c.127A>C (p.Arg43=) | |
11 | g.18269230A>G | CA379504496 | SAA1 | c.127A>G (p.Arg43Gly) | |
11 | g.18269230A>T | CA379504498 | SAA1 | c.127A>T (p.Arg43Ter) | |
11 | g.18269231G>A | CA5909453 | SAA1 | c.128G>A (p.Arg43Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269231G>C | CA379504499 | SAA1 | c.128G>C (p.Arg43Thr) | gnomAD v4 |
11 | g.18269231G= | CA1955523679 | SAA1 | c.128G= (p.Arg43=) | |
11 | g.18269231G>T | CA379504500 | SAA1 | c.128G>T (p.Arg43Ile) | |
11 | g.18269232A>C | CA379504501 | SAA1 | c.129A>C (p.Arg43Ser) | |
11 | g.18269232A>G | CA473366750 | SAA1 | c.129A>G (p.Arg43=) | |
11 | g.18269232A>T | CA379504502 | SAA1 | c.129A>T (p.Arg43Ser) | |
11 | g.18269233G>A | CA379504504 | SAA1 | c.130G>A (p.Glu44Lys) | |
11 | g.18269233G>C | CA379504505 | SAA1 | c.130G>C (p.Glu44Gln) | dbSNP |
11 | g.18269233G= | CA1955523680 | SAA1 | c.130G= (p.Glu44=) | |
11 | g.18269233G>T | CA379504507 | SAA1 | c.130G>T (p.Glu44Ter) | |
11 | g.18269234A>C | CA379504508 | SAA1 | c.131A>C (p.Glu44Ala) | |
11 | g.18269234A>G | CA379504510 | SAA1 | c.131A>G (p.Glu44Gly) | |
11 | g.18269234A>T | CA379504512 | SAA1 | c.131A>T (p.Glu44Val) | |
11 | g.18269235A>C | CA379504515 | SAA1 | c.132A>C (p.Glu44Asp) | |
11 | g.18269235A>G | CA473366757 | SAA1 | c.132A>G (p.Glu44=) | |
11 | g.18269235A>T | CA379504513 | SAA1 | c.132A>T (p.Glu44Asp) | |
11 | g.18269236G>A | CA379504516 | SAA1 | c.133G>A (p.Ala45Thr) | |
11 | g.18269236G>C | CA379504518 | SAA1 | c.133G>C (p.Ala45Pro) | |
11 | g.18269236G>T | CA379504520 | SAA1 | c.133G>T (p.Ala45Ser) | |
11 | g.18269237C>A | CA379504524 | SAA1 | c.134C>A (p.Ala45Asp) | |
11 | g.18269237C= | CA1955523681 | SAA1 | c.134C= (p.Ala45=) | |
11 | g.18269237C>G | CA379504526 | SAA1 | c.134C>G (p.Ala45Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.18269237C>T | CA379504530 | SAA1 | c.134C>T (p.Ala45Val) | |
11 | g.18269238C>A | CA473366765 | SAA1 | c.135C>A (p.Ala45=) | |
11 | g.18269238C>G | CA473366767 | SAA1 | c.135C>G (p.Ala45=) | |
11 | g.18269238C>T | CA473366769 | SAA1 | c.135C>T (p.Ala45=) | |
11 | g.18269239A= | CA1955523682 | SAA1 | c.136A= (p.Asn46=) | |
11 | g.18269239A>C | CA379504535 | SAA1 | c.136A>C (p.Asn46His) | |
11 | g.18269239A>G | CA379504532 | SAA1 | c.136A>G (p.Asn46Asp) | gnomAD v4 |
11 | g.18269239A>T | CA379504534 | SAA1 | c.136A>T (p.Asn46Tyr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.18269240A>C | CA379504537 | SAA1 | c.137A>C (p.Asn46Thr) | |
11 | g.18269240A>G | CA379504539 | SAA1 | c.137A>G (p.Asn46Ser) | |
11 | g.18269240A>T | CA379504541 | SAA1 | c.137A>T (p.Asn46Ile) | |
11 | g.18269241T>A | CA379504542 | SAA1 | c.138T>A (p.Asn46Lys) | |
11 | g.18269241T>C | CA473366776 | SAA1 | c.138T>C (p.Asn46=) | gnomAD v4 |
11 | g.18269241T>G | CA379504544 | SAA1 | c.138T>G (p.Asn46Lys) | |
11 | g.18269242T>A | CA379504547 | SAA1 | c.139T>A (p.Tyr47Asn) | |
11 | g.18269242T>C | CA379504545 | SAA1 | c.139T>C (p.Tyr47His) | gnomAD v4 |
11 | g.18269242T>G | CA379504546 | SAA1 | c.139T>G (p.Tyr47Asp) | |
11 | g.18269243A= | CA1955523683 | SAA1 | c.140A= (p.Tyr47=) | |
11 | g.18269243A>C | CA379504548 | SAA1 | c.140A>C (p.Tyr47Ser) | |
11 | g.18269243A>G | CA379504550 | SAA1 | c.140A>G (p.Tyr47Cys) | dbSNP gnomAD v4 |
11 | g.18269243A>T | CA379504551 | SAA1 | c.140A>T (p.Tyr47Phe) | |
11 | g.18269244C>A | CA379504553 | SAA1 | c.141C>A (p.Tyr47Ter) | |
11 | g.18269244C>G | CA379504555 | SAA1 | c.141C>G (p.Tyr47Ter) | |
11 | g.18269244C>T | CA473366786 | SAA1 | c.141C>T (p.Tyr47=) | |
11 | g.18269245A= | CA1955523684 | SAA1 | c.142A= (p.Ile48=) | |
11 | g.18269245A>C | CA379504557 | SAA1 | c.142A>C (p.Ile48Leu) | |
11 | g.18269245A>G | CA5909454 | SAA1 | c.142A>G (p.Ile48Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.18269245A>T | CA5909455 | SAA1 | c.142A>T (p.Ile48Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269246T>A | CA379504559 | SAA1 | c.143T>A (p.Ile48Asn) | |
11 | g.18269246T>C | CA379504560 | SAA1 | c.143T>C (p.Ile48Thr) | |
11 | g.18269246T>G | CA379504561 | SAA1 | c.143T>G (p.Ile48Ser) | |
11 | g.18269247C>A | CA473366799 | SAA1 | c.144C>A (p.Ile48=) | gnomAD v4 |
11 | g.18269247C= | CA1955523685 | SAA1 | c.144C= (p.Ile48=) | |
11 | g.18269247C>G | CA379504562 | SAA1 | c.144C>G (p.Ile48Met) | dbSNP |
11 | g.18269247C>T | CA5909456 | SAA1 | c.144C>T (p.Ile48=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269248G>A | CA5909457 | SAA1 | c.145G>A (p.Gly49Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.18269248G>C | CA379504564 | SAA1 | c.145G>C (p.Gly49Arg) | |
11 | g.18269248G= | CA1955523686 | SAA1 | c.145G= (p.Gly49=) | |
11 | g.18269248G>T | CA379504565 | SAA1 | c.145G>T (p.Gly49Cys) | |
11 | g.18269249G>A | CA379504567 | SAA1 | c.146G>A (p.Gly49Asp) | dbSNP gnomAD v4 |
11 | g.18269249G>C | CA379504570 | SAA1 | c.146G>C (p.Gly49Ala) | |
11 | g.18269249G= | CA1955523687 | SAA1 | c.146G= (p.Gly49=) | |
11 | g.18269249G>T | CA379504569 | SAA1 | c.146G>T (p.Gly49Val) | |
11 | g.18269250C>A | CA473366812 | SAA1 | c.147C>A (p.Gly49=) | |
11 | g.18269250C= | CA1955523688 | SAA1 | c.147C= (p.Gly49=) | |
11 | g.18269250C>G | CA473366814 | SAA1 | c.147C>G (p.Gly49=) | |
11 | g.18269250C>T | CA5909458 | SAA1 | c.147C>T (p.Gly49=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269251T>A | CA379504572 | SAA1 | c.148T>A (p.Ser50Thr) | |
11 | g.18269251T>C | CA218565938 | SAA1 | c.148T>C (p.Ser50Pro) | dbSNP |
11 | g.18269251T>G | CA379504574 | SAA1 | c.148T>G (p.Ser50Ala) | |
11 | g.18269251T= | CA1955523690 | SAA1 | c.148T= (p.Ser50=) | |
11 | g.18269251_18269255delinsTCAGA | CA1955523689 | SAA1 | c.148_152delinsTCAGA (p.Ser50=) | |
11 | g.18269252C>A | CA379504576 | SAA1 | c.149C>A (p.Ser50Ter) | |
11 | g.18269252C>G | CA379504578 | SAA1 | c.149C>G (p.Ser50Ter) | |
11 | g.18269252C>T | CA379504580 | SAA1 | c.149C>T (p.Ser50Leu) | gnomAD v4 |
11 | g.18269254_18269257del | CA5909459 | SAA1 | c.151_154del (p.Asp51AsnfsTer24) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269253del | CA2612726995 | SAA1 | c.150del (p.Asp51ThrfsTer25) | gnomAD v4 |
11 | g.18269253A= | CA1955523691 | SAA1 | c.150A= (p.Ser50=) | |
11 | g.18269253A>C | CA473366821 | SAA1 | c.150A>C (p.Ser50=) | |
11 | g.18269253A>G | CA473366822 | SAA1 | c.150A>G (p.Ser50=) | |
11 | g.18269253A>T | CA5909460 | SAA1 | c.150A>T (p.Ser50=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.18269254G>A | CA379504581 | SAA1 | c.151G>A (p.Asp51Asn) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.18269254G>C | CA379504582 | SAA1 | c.151G>C (p.Asp51His) | |
11 | g.18269254G= | CA1955523692 | SAA1 | c.151G= (p.Asp51=) | |
11 | g.18269254G>T | CA379504583 | SAA1 | c.151G>T (p.Asp51Tyr) | |
11 | g.18269254_18269255insT | CA935588602 | SAA1 | c.151_152insT (p.Asp51ValfsTer11) | gnomAD v3 gnomAD v4 |
11 | g.18269255A= | CA1955523693 | SAA1 | c.152A= (p.Asp51=) | |
11 | g.18269255A>C | CA379504586 | SAA1 | c.152A>C (p.Asp51Ala) | |
11 | g.18269255A>G | CA379504584 | SAA1 | c.152A>G (p.Asp51Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.18269255A>T | CA379504585 | SAA1 | c.152A>T (p.Asp51Val) | |
11 | g.18269256C>A | CA5909462 | SAA1 | c.153C>A (p.Asp51Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.18269256C= | CA1955523694 | SAA1 | c.153C= (p.Asp51=) | |
11 | g.18269256C>G | CA379504587 | SAA1 | c.153C>G (p.Asp51Glu) | |
11 | g.18269256C>T | CA473366827 | SAA1 | c.153C>T (p.Asp51=) | gnomAD v4 |
11 | g.18269257_18269258insTGTACAAGTACATCA | CA935588605 | SAA1 | c.154_155insTGTACAAGTACATCA (p.Asp51_Lys52insMetTyrLysTyrIle) | gnomAD v3 gnomAD v4 |
11 | g.18269257A>C | CA379504589 | SAA1 | c.154A>C (p.Lys52Gln) | |
11 | g.18269257A>G | CA379504591 | SAA1 | c.154A>G (p.Lys52Glu) | gnomAD v4 |
11 | g.18269257A>T | CA379504592 | SAA1 | c.154A>T (p.Lys52Ter) | |
11 | g.18269257_18269259dup | CA5909461 | SAA1 | c.154_156dup (p.Lys52_Tyr53insLys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.18269258A>C | CA379504593 | SAA1 | c.155A>C (p.Lys52Thr) | |
11 | g.18269258A>G | CA379504595 | SAA1 | c.155A>G (p.Lys52Arg) | |
11 | g.18269258A>T | CA379504596 | SAA1 | c.155A>T (p.Lys52Ile) | |
11 | g.18269259A>C | CA379504598 | SAA1 | c.156A>C (p.Lys52Asn) | |
11 | g.18269259A>G | CA473366837 | SAA1 | c.156A>G (p.Lys52=) | |
11 | g.18269259A>T | CA379504600 | SAA1 | c.156A>T (p.Lys52Asn) | |
11 | g.18269260T>A | CA379504603 | SAA1 | c.157T>A (p.Tyr53Asn) | |
11 | g.18269260T>C | CA379504602 | SAA1 | c.157T>C (p.Tyr53His) | |
11 | g.18269260T>G | CA379504601 | SAA1 | c.157T>G (p.Tyr53Asp) | |
11 | g.18269261A>C | CA379504608 | SAA1 | c.158A>C (p.Tyr53Ser) | gnomAD v4 |
11 | g.18269261A>G | CA379504605 | SAA1 | c.158A>G (p.Tyr53Cys) | |
11 | g.18269261A>T | CA379504607 | SAA1 | c.158A>T (p.Tyr53Phe) | |
11 | g.18269262C>A | CA379504610 | SAA1 | c.159C>A (p.Tyr53Ter) | |
11 | g.18269262C>G | CA379504611 | SAA1 | c.159C>G (p.Tyr53Ter) | |
11 | g.18269262C>T | CA473366852 | SAA1 | c.159C>T (p.Tyr53=) | |
11 | g.18269263T>A | CA379504613 | SAA1 | c.160T>A (p.Phe54Ile) | |
11 | g.18269263T>C | CA379504615 | SAA1 | c.160T>C (p.Phe54Leu) | |
11 | g.18269263T>G | CA379504618 | SAA1 | c.160T>G (p.Phe54Val) | |
11 | g.18269264T>A | CA379504619 | SAA1 | c.161T>A (p.Phe54Tyr) | |
11 | g.18269264T>C | CA379504621 | SAA1 | c.161T>C (p.Phe54Ser) | |
11 | g.18269264T>G | CA379504623 | SAA1 | c.161T>G (p.Phe54Cys) | |
11 | g.18269265C>A | CA379504626 | SAA1 | c.162C>A (p.Phe54Leu) | |
11 | g.18269265C>G | CA379504628 | SAA1 | c.162C>G (p.Phe54Leu) | |
11 | g.18269265C>T | CA473366862 | SAA1 | c.162C>T (p.Phe54=) | |
11 | g.18269266del | CA645597297 | SAA1 | c.163del (p.His55MetfsTer21) | COSMIC |
11 | g.18269266C>A | CA379504636 | SAA1 | c.163C>A (p.His55Asn) | |
11 | g.18269266C= | CA1955523695 | SAA1 | c.163C= (p.His55=) | |
11 | g.18269266C>G | CA379504634 | SAA1 | c.163C>G (p.His55Asp) | |
11 | g.18269266C>T | CA379504632 | SAA1 | c.163C>T (p.His55Tyr) | dbSNP gnomAD v4 |
11 | g.18269267A>C | CA379504639 | SAA1 | c.164A>C (p.His55Pro) | |
11 | g.18269267A>G | CA379504642 | SAA1 | c.164A>G (p.His55Arg) | |
11 | g.18269267A>T | CA379504644 | SAA1 | c.164A>T (p.His55Leu) | |
11 | g.18269268T>A | CA379504648 | SAA1 | c.165T>A (p.His55Gln) | |
11 | g.18269268T>C | CA473366874 | SAA1 | c.165T>C (p.His55=) | dbSNP gnomAD v4 |
11 | g.18269268T>G | CA379504651 | SAA1 | c.165T>G (p.His55Gln) | |
11 | g.18269268T= | CA1955523696 | SAA1 | c.165T= (p.His55=) | |
11 | g.18269269G>A | CA379504655 | SAA1 | c.166G>A (p.Ala56Thr) | dbSNP gnomAD v4 |
11 | g.18269269G>C | CA379504657 | SAA1 | c.166G>C (p.Ala56Pro) | |
11 | g.18269269G= | CA1955523697 | SAA1 | c.166G= (p.Ala56=) | |
11 | g.18269269G>T | CA379504660 | SAA1 | c.166G>T (p.Ala56Ser) | |
11 | g.18269270C>A | CA379504662 | SAA1 | c.167C>A (p.Ala56Asp) | |
11 | g.18269270C>G | CA379504664 | SAA1 | c.167C>G (p.Ala56Gly) | gnomAD v4 |
11 | g.18269270C>T | CA379504667 | SAA1 | c.167C>T (p.Ala56Val) | gnomAD v4 |
11 | g.18269271T>A | CA473366885 | SAA1 | c.168T>A (p.Ala56=) | |
11 | g.18269271T>C | CA473366888 | SAA1 | c.168T>C (p.Ala56=) | |
11 | g.18269271T>G | CA473366889 | SAA1 | c.168T>G (p.Ala56=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.18269271T= | CA1955523698 | SAA1 | c.168T= (p.Ala56=) | |
11 | g.18269272C>A | CA473366894 | SAA1 | c.169C>A (p.Arg57=) | |
11 | g.18269272C= | CA1955523700 | SAA1 | c.169C= (p.Arg57=) | |
11 | g.18269272C>G | CA379504669 | SAA1 | c.169C>G (p.Arg57Gly) | |
11 | g.18269272C>T | CA5909463 | SAA1 | c.169C>T (p.Arg57Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.18269272_18269273delinsCG | CA1955523699 | SAA1 | c.169_170delinsCG (p.Arg57=) | |
11 | g.18269273G>A | CA5909465 | SAA1 | c.170G>A (p.Arg57Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269273G>C | CA379504678 | SAA1 | c.170G>C (p.Arg57Pro) | |
11 | g.18269273G= | CA1955523701 | SAA1 | c.170G= (p.Arg57=) | |
11 | g.18269273G>T | CA379504675 | SAA1 | c.170G>T (p.Arg57Leu) | |
11 | g.18269277del | CA5909464 | SAA1 | c.174del (p.Asn59ThrfsTer17) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.18269274G>A | CA473366906 | SAA1 | c.171G>A (p.Arg57=) | |
11 | g.18269274G>C | CA473366904 | SAA1 | c.171G>C (p.Arg57=) | |
11 | g.18269274G>T | CA473366903 | SAA1 | c.171G>T (p.Arg57=) | |
11 | g.18269275G>A | CA5909466 | SAA1 | c.172G>A (p.Gly58Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.18269275G>C | CA379504683 | SAA1 | c.172G>C (p.Gly58Arg) | |
11 | g.18269275G= | CA1955523702 | SAA1 | c.172G= (p.Gly58=) | |
11 | g.18269275G>T | CA379504686 | SAA1 | c.172G>T (p.Gly58Trp) | |
11 | g.18269276G>A | CA379504690 | SAA1 | c.173G>A (p.Gly58Glu) | |
11 | g.18269276G>C | CA379504692 | SAA1 | c.173G>C (p.Gly58Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.18269276G= | CA1955523703 | SAA1 | c.173G= (p.Gly58=) | |
11 | g.18269276G>T | CA379504694 | SAA1 | c.173G>T (p.Gly58Val) | |
11 | g.18269277G>A | CA473366918 | SAA1 | c.174G>A (p.Gly58=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.18269277G>C | CA473366920 | SAA1 | c.174G>C (p.Gly58=) | |
11 | g.18269277G= | CA1955523704 | SAA1 | c.174G= (p.Gly58=) | |
11 | g.18269277G>T | CA473366921 | SAA1 | c.174G>T (p.Gly58=) | |
11 | g.18269278A>C | CA379504698 | SAA1 | c.175A>C (p.Asn59His) | |
11 | g.18269278A>G | CA379504704 | SAA1 | c.175A>G (p.Asn59Asp) | gnomAD v4 |
11 | g.18269278A>T | CA379504706 | SAA1 | c.175A>T (p.Asn59Tyr) | |
11 | g.18269279A>C | CA379504709 | SAA1 | c.176A>C (p.Asn59Thr) | |
11 | g.18269279A>G | CA379504712 | SAA1 | c.176A>G (p.Asn59Ser) | |
11 | g.18269279A>T | CA379504718 | SAA1 | c.176A>T (p.Asn59Ile) | |
11 | g.18269280C>A | CA379504719 | SAA1 | c.177C>A (p.Asn59Lys) | dbSNP gnomAD v4 |
11 | g.18269280C= | CA1955523705 | SAA1 | c.177C= (p.Asn59=) | |
11 | g.18269280C>G | CA379504721 | SAA1 | c.177C>G (p.Asn59Lys) | |
11 | g.18269280C>T | CA473366934 | SAA1 | c.177C>T (p.Asn59=) | gnomAD v4 |
11 | g.18269281T>A | CA379504724 | SAA1 | c.178T>A (p.Tyr60Asn) | |
11 | g.18269281T>C | CA379504726 | SAA1 | c.178T>C (p.Tyr60His) | |
11 | g.18269281T>G | CA379504725 | SAA1 | c.178T>G (p.Tyr60Asp) | |
11 | g.18269282A= | CA1955523706 | SAA1 | c.179A= (p.Tyr60=) | |
11 | g.18269282A>C | CA379504727 | SAA1 | c.179A>C (p.Tyr60Ser) | |
11 | g.18269282A>G | CA5909467 | SAA1 | c.179A>G (p.Tyr60Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269282A>T | CA379504728 | SAA1 | c.179A>T (p.Tyr60Phe) | |
11 | g.18269283T>A | CA379504729 | SAA1 | c.180T>A (p.Tyr60Ter) | |
11 | g.18269283T>C | CA473366941 | SAA1 | c.180T>C (p.Tyr60=) | gnomAD v4 |
11 | g.18269283T>G | CA379504731 | SAA1 | c.180T>G (p.Tyr60Ter) | |
11 | g.18269284G>A | CA379504733 | SAA1 | c.181G>A (p.Asp61Asn) | |
11 | g.18269284G>C | CA379504735 | SAA1 | c.181G>C (p.Asp61His) | |
11 | g.18269284G>T | CA379504737 | SAA1 | c.181G>T (p.Asp61Tyr) | |
11 | g.18269285A= | CA1955523707 | SAA1 | c.182A= (p.Asp61=) | |
11 | g.18269285A>C | CA379504740 | SAA1 | c.182A>C (p.Asp61Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269285A>G | CA379504742 | SAA1 | c.182A>G (p.Asp61Gly) | |
11 | g.18269285A>T | CA379504744 | SAA1 | c.182A>T (p.Asp61Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269286T>A | CA379504756 | SAA1 | c.183T>A (p.Asp61Glu) | |
11 | g.18269286T>C | CA5909468 | SAA1 | c.183T>C (p.Asp61=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.18269286T>G | CA379504747 | SAA1 | c.183T>G (p.Asp61Glu) | |
11 | g.18269286T= | CA1955523708 | SAA1 | c.183T= (p.Asp61=) | |
11 | g.18269287G>A | CA379504765 | SAA1 | c.184G>A (p.Ala62Thr) | |
11 | g.18269287G>C | CA379504759 | SAA1 | c.184G>C (p.Ala62Pro) | |
11 | g.18269287G>T | CA379504761 | SAA1 | c.184G>T (p.Ala62Ser) | gnomAD v4 |
11 | g.18269288C>A | CA379504768 | SAA1 | c.185C>A (p.Ala62Asp) | gnomAD v4 |
11 | g.18269288C>G | CA379504769 | SAA1 | c.185C>G (p.Ala62Gly) | |
11 | g.18269288C>T | CA379504770 | SAA1 | c.185C>T (p.Ala62Val) | |
11 | g.18269289T>A | CA473366959 | SAA1 | c.186T>A (p.Ala62=) | |
11 | g.18269289T>C | CA473366960 | SAA1 | c.186T>C (p.Ala62=) | |
11 | g.18269289T>G | CA473366962 | SAA1 | c.186T>G (p.Ala62=) | |
11 | g.18269290G>A | CA379504776 | SAA1 | c.187G>A (p.Ala63Thr) | gnomAD v4 |
11 | g.18269290G>C | CA379504774 | SAA1 | c.187G>C (p.Ala63Pro) | |
11 | g.18269290G>T | CA379504772 | SAA1 | c.187G>T (p.Ala63Ser) | |
11 | g.18269291C>A | CA379504778 | SAA1 | c.188C>A (p.Ala63Asp) | gnomAD v3 gnomAD v4 |
11 | g.18269291C>G | CA379504780 | SAA1 | c.188C>G (p.Ala63Gly) | |
11 | g.18269291C>T | CA379504781 | SAA1 | c.188C>T (p.Ala63Val) | gnomAD v4 |
11 | g.18269292C>A | CA473366972 | SAA1 | c.189C>A (p.Ala63=) | |
11 | g.18269292C>G | CA473366975 | SAA1 | c.189C>G (p.Ala63=) | |
11 | g.18269292C>T | CA473366974 | SAA1 | c.189C>T (p.Ala63=) | |
11 | g.18269293A>C | CA379504784 | SAA1 | c.190A>C (p.Lys64Gln) | |
11 | g.18269293A>G | CA379504787 | SAA1 | c.190A>G (p.Lys64Glu) | COSMIC |
11 | g.18269293A>T | CA379504789 | SAA1 | c.190A>T (p.Lys64Ter) | |
11 | g.18269296del | CA2790615017 | SAA1 | c.193del (p.Arg65GlyfsTer11) | |
11 | g.18269294A>C | CA379504792 | SAA1 | c.191A>C (p.Lys64Thr) | gnomAD v3 gnomAD v4 |
11 | g.18269294A>G | CA379504796 | SAA1 | c.191A>G (p.Lys64Arg) | gnomAD v4 |
11 | g.18269294A>T | CA379504793 | SAA1 | c.191A>T (p.Lys64Ile) | |
11 | g.18269295A>C | CA379504799 | SAA1 | c.192A>C (p.Lys64Asn) | gnomAD v3 gnomAD v4 |
11 | g.18269295A>G | CA473366983 | SAA1 | c.192A>G (p.Lys64=) | |
11 | g.18269295A>T | CA379504802 | SAA1 | c.192A>T (p.Lys64Asn) | |
11 | g.18269296A>C | CA473366986 | SAA1 | c.193A>C (p.Arg65=) | |
11 | g.18269296A>G | CA379504806 | SAA1 | c.193A>G (p.Arg65Gly) | gnomAD v4 |
11 | g.18269296A>T | CA379504810 | SAA1 | c.193A>T (p.Arg65Trp) | |
11 | g.18269297G>A | CA379504813 | SAA1 | c.194G>A (p.Arg65Lys) | gnomAD v4 |
11 | g.18269297G>C | CA379504815 | SAA1 | c.194G>C (p.Arg65Thr) | |
11 | g.18269297G>T | CA379504819 | SAA1 | c.194G>T (p.Arg65Met) | |
11 | g.18269298G>A | CA473366995 | SAA1 | c.195G>A (p.Arg65=) | dbSNP gnomAD v4 |
11 | g.18269298G>C | CA379504835 | SAA1 | c.195G>C (p.Arg65Ser) | |
11 | g.18269298G= | CA1955523709 | SAA1 | c.195G= (p.Arg65=) | |
11 | g.18269298G>T | CA379504837 | SAA1 | c.195G>T (p.Arg65Ser) | |
11 | g.18269299G>A | CA379504841 | SAA1 | c.196G>A (p.Gly66Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.18269299G>C | CA379504845 | SAA1 | c.196G>C (p.Gly66Arg) | |
11 | g.18269299G= | CA1955523710 | SAA1 | c.196G= (p.Gly66=) | |
11 | g.18269299G>T | CA379504848 | SAA1 | c.196G>T (p.Gly66Ter) | gnomAD v4 |
11 | g.18269300G>A | CA379504859 | SAA1 | c.197G>A (p.Gly66Glu) | |
11 | g.18269300G>C | CA379504858 | SAA1 | c.197G>C (p.Gly66Ala) | |
11 | g.18269300G>T | CA379504852 | SAA1 | c.197G>T (p.Gly66Val) | gnomAD v4 |
11 | g.18269301A= | CA1955523711 | SAA1 | c.198A= (p.Gly66=) | |
11 | g.18269301A>C | CA473367010 | SAA1 | c.198A>C (p.Gly66=) | |
11 | g.18269301A>G | CA473367008 | SAA1 | c.198A>G (p.Gly66=) | dbSNP gnomAD v4 |
11 | g.18269301A>T | CA473367007 | SAA1 | c.198A>T (p.Gly66=) | |
11 | g.18269302C>A | CA379504860 | SAA1 | c.199C>A (p.Pro67Thr) | gnomAD v4 |
11 | g.18269302C= | CA1955523712 | SAA1 | c.199C= (p.Pro67=) | |
11 | g.18269302C>G | CA379504861 | SAA1 | c.199C>G (p.Pro67Ala) | dbSNP gnomAD v4 |
11 | g.18269302C>T | CA379504862 | SAA1 | c.199C>T (p.Pro67Ser) | ClinVar gnomAD v4 |
11 | g.18269303C>A | CA379504865 | SAA1 | c.200C>A (p.Pro67His) | gnomAD v4 |
11 | g.18269303C= | CA1955523713 | SAA1 | c.200C= (p.Pro67=) | |
11 | g.18269303C>G | CA379504866 | SAA1 | c.200C>G (p.Pro67Arg) | |
11 | g.18269303C>T | CA379504870 | SAA1 | c.200C>T (p.Pro67Leu) | dbSNP gnomAD v4 |
11 | g.18269304T>A | CA473367019 | SAA1 | c.201T>A (p.Pro67=) | |
11 | g.18269304T>C | CA473367021 | SAA1 | c.201T>C (p.Pro67=) | dbSNP gnomAD v4 |
11 | g.18269304T>G | CA473367022 | SAA1 | c.201T>G (p.Pro67=) | gnomAD v4 |
11 | g.18269304T= | CA1955523714 | SAA1 | c.201T= (p.Pro67=) | |
11 | g.18269304_18269305delinsTG | CA1955523715 | SAA1 | c.201_202delinsTG (p.Pro67=) | |
11 | g.18269305G>A | CA379504880 | SAA1 | c.202G>A (p.Gly68Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.18269305G>C | CA379504877 | SAA1 | c.202G>C (p.Gly68Arg) | |
11 | g.18269305G= | CA1955523716 | SAA1 | c.202G= (p.Gly68=) | |
11 | g.18269305G>T | CA379504874 | SAA1 | c.202G>T (p.Gly68Trp) | |
11 | g.18269309dup | CA1955523717 | SAA1 | c.206dup (p.Ala70CysfsTer?) c.206dup (p.Ala70CysfsTer28) | dbSNP |
11 | g.18269309del | CA597451044 | SAA1 | c.206del (p.Gly69ValfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.18269306G>A | CA379504885 | SAA1 | c.203G>A (p.Gly68Glu) | dbSNP |
11 | g.18269306G>C | CA379504888 | SAA1 | c.203G>C (p.Gly68Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.18269306G= | CA1955523718 | SAA1 | c.203G= (p.Gly68=) | |
11 | g.18269306G>T | CA379504890 | SAA1 | c.203G>T (p.Gly68Val) | |
11 | g.18269307G>A | CA5909469 | SAA1 | c.204G>A (p.Gly68=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269307G>C | CA473367036 | SAA1 | c.204G>C (p.Gly68=) | gnomAD v4 |
11 | g.18269307G= | CA1955523719 | SAA1 | c.204G= (p.Gly68=) | |
11 | g.18269307G>T | CA473367038 | SAA1 | c.204G>T (p.Gly68=) | |
11 | g.18269308G>A | CA379504899 | SAA1 | c.205G>A (p.Gly69Ser) | |
11 | g.18269308G>C | CA379504901 | SAA1 | c.205G>C (p.Gly69Arg) | |
11 | g.18269308G= | CA1955523720 | SAA1 | c.205G= (p.Gly69=) | |
11 | g.18269308G>T | CA379504903 | SAA1 | c.205G>T (p.Gly69Cys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.18269309G>A | CA379504906 | SAA1 | c.206G>A (p.Gly69Asp) | gnomAD v4 |
11 | g.18269309G>C | CA379504913 | SAA1 | c.206G>C (p.Gly69Ala) | |
11 | g.18269309G= | CA1955523721 | SAA1 | c.206G= (p.Gly69=) | |
11 | g.18269309G>T | CA379504910 | SAA1 | c.206G>T (p.Gly69Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.18269310T>A | CA473367048 | SAA1 | c.207T>A (p.Gly69=) | dbSNP gnomAD v2 |
11 | g.18269310T>C | CA473367049 | SAA1 | c.207T>C (p.Gly69=) | gnomAD v4 |
11 | g.18269310T>G | CA473367051 | SAA1 | c.207T>G (p.Gly69=) | dbSNP gnomAD v4 |
11 | g.18269310T= | CA1955523722 | SAA1 | c.207T= (p.Gly69=) | |
11 | g.18269311G>A | CA5909470 | SAA1 | c.208G>A (p.Ala70Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269311G>C | CA379504919 | SAA1 | c.208G>C (p.Ala70Pro) | |
11 | g.18269311G= | CA1955523723 | SAA1 | c.208G= (p.Ala70=) | |
11 | g.18269311G>T | CA379504922 | SAA1 | c.208G>T (p.Ala70Ser) | |
11 | g.18269312_18269313insAGC | CA2612727118 | SAA1 | c.209_210insAGC (p.Ala70_Trp71insAla) | gnomAD v4 |
11 | g.18269312C>A | CA379504925 | SAA1 | c.209C>A (p.Ala70Asp) | gnomAD v4 |
11 | g.18269312C= | CA1630848629 | SAA1 | c.209C= (p.Ala70=) | |
11 | g.18269312C>G | CA379504929 | SAA1 | c.209C>G (p.Ala70Gly) | gnomAD v3 gnomAD v4 |
11 | g.18269312C>T | CA127821 | SAA1 | c.209C>T (p.Ala70Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269313C>A | CA473367061 | SAA1 | c.210C>A (p.Ala70=) | |
11 | g.18269313C>G | CA473367063 | SAA1 | c.210C>G (p.Ala70=) | gnomAD v4 |
11 | g.18269313C>T | CA473367064 | SAA1 | c.210C>T (p.Ala70=) | gnomAD v3 gnomAD v4 |
11 | g.18269314T>A | CA379504936 | SAA1 | c.211T>A (p.Trp71Arg) | gnomAD v4 |
11 | g.18269314T>C | CA218566055 | SAA1 | c.211T>C (p.Trp71Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.18269314T>G | CA379504943 | SAA1 | c.211T>G (p.Trp71Gly) | gnomAD v4 |
11 | g.18269314T= | CA1955523724 | SAA1 | c.211T= (p.Trp71=) | |
11 | g.18269315G>A | CA379504950 | SAA1 | c.212G>A (p.Trp71Ter) | |
11 | g.18269315G>C | CA379504951 | SAA1 | c.212G>C (p.Trp71Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.18269315G= | CA1955523725 | SAA1 | c.212G= (p.Trp71=) | |
11 | g.18269315G>T | CA379504955 | SAA1 | c.212G>T (p.Trp71Leu) | |
11 | g.18269315_18269317dup | CA2612727128 | SAA1 | c.212_214dup (p.Trp71_Ala72insGly) | gnomAD v4 |
11 | g.18269316G>A | CA379504961 | SAA1 | c.213G>A (p.Trp71Ter) | |
11 | g.18269316G>C | CA379504971 | SAA1 | c.213G>C (p.Trp71Cys) | |
11 | g.18269316G>T | CA379504967 | SAA1 | c.213G>T (p.Trp71Cys) | gnomAD v4 |
11 | g.18269317G>A | CA379504974 | SAA1 | c.214G>A (p.Ala72Thr) | gnomAD v4 |
11 | g.18269317G>C | CA379504980 | SAA1 | c.214G>C (p.Ala72Pro) | |
11 | g.18269317G>T | CA379504983 | SAA1 | c.214G>T (p.Ala72Ser) | |
11 | g.18269318C>A | CA379504987 | SAA1 | c.215C>A (p.Ala72Asp) | gnomAD v4 |
11 | g.18269318C>G | CA379504988 | SAA1 | c.215C>G (p.Ala72Gly) | |
11 | g.18269318C>T | CA379504989 | SAA1 | c.215C>T (p.Ala72Val) | gnomAD v4 |
11 | g.18269318_18269319delinsCT | CA1955523726 | SAA1 | c.215_216delinsCT (p.Ala72=) | |
11 | g.18269319del | CA935588640 | SAA1 | c.216del (p.Ala73GlnfsTer3) | dbSNP gnomAD v4 |
11 | g.18269319T>A | CA473367086 | SAA1 | c.216T>A (p.Ala72=) | |
11 | g.18269319T>C | CA5909471 | SAA1 | c.216T>C (p.Ala72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269319T>G | CA473367091 | SAA1 | c.216T>G (p.Ala72=) | gnomAD v4 |
11 | g.18269319T= | CA1955523727 | SAA1 | c.216T= (p.Ala72=) | |
11 | g.18269320G>A | CA379504992 | SAA1 | c.217G>A (p.Ala73Thr) | gnomAD v4 |
11 | g.18269320G>C | CA379504994 | SAA1 | c.217G>C (p.Ala73Pro) | |
11 | g.18269320G>T | CA379504996 | SAA1 | c.217G>T (p.Ala73Ser) | gnomAD v4 |
11 | g.18269321C>A | CA379505006 | SAA1 | c.218C>A (p.Ala73Glu) | gnomAD v3 gnomAD v4 |
11 | g.18269321C= | CA1955523728 | SAA1 | c.218C= (p.Ala73=) | |
11 | g.18269321C>G | CA379505010 | SAA1 | c.218C>G (p.Ala73Gly) | |
11 | g.18269321C>T | CA379505012 | SAA1 | c.218C>T (p.Ala73Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269322A>C | CA473367099 | SAA1 | c.219A>C (p.Ala73=) | |
11 | g.18269322A>G | CA473367102 | SAA1 | c.219A>G (p.Ala73=) | |
11 | g.18269322A>T | CA473367101 | SAA1 | c.219A>T (p.Ala73=) | gnomAD v4 |
11 | g.18269323G>A | CA379505021 | SAA1 | c.220G>A (p.Glu74Lys) | |
11 | g.18269323G>C | CA379505014 | SAA1 | c.220G>C (p.Glu74Gln) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.18269323G= | CA1955523729 | SAA1 | c.220G= (p.Glu74=) | |
11 | g.18269323G>T | CA379505018 | SAA1 | c.220G>T (p.Glu74Ter) | |
11 | g.18269324A= | CA1955523730 | SAA1 | c.221A= (p.Glu74=) | |
11 | g.18269324A>C | CA379505023 | SAA1 | c.221A>C (p.Glu74Ala) | gnomAD v4 |
11 | g.18269324A>G | CA379505024 | SAA1 | c.221A>G (p.Glu74Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.18269324A>T | CA379505026 | SAA1 | c.221A>T (p.Glu74Val) | |
11 | g.18269325A= | CA1955523731 | SAA1 | c.222A= (p.Glu74=) | |
11 | g.18269325A>C | CA5909472 | SAA1 | c.222A>C (p.Glu74Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269325A>G | CA473367110 | SAA1 | c.222A>G (p.Glu74=) | |
11 | g.18269325A>T | CA379505030 | SAA1 | c.222A>T (p.Glu74Asp) | |
11 | g.18269326G>A | CA379505034 | SAA1 | c.223G>A (p.Val75Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.18269326G>C | CA379505038 | SAA1 | c.223G>C (p.Val75Leu) | |
11 | g.18269326G= | CA1955523732 | SAA1 | c.223G= (p.Val75=) | |
11 | g.18269326G>T | CA379505039 | SAA1 | c.223G>T (p.Val75Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.18269327T>A | CA379505042 | SAA1 | c.224T>A (p.Val75Glu) | gnomAD v3 gnomAD v4 |
11 | g.18269327T>C | CA5909473 | SAA1 | c.224T>C (p.Val75Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.18269327T>G | CA379505049 | SAA1 | c.224T>G (p.Val75Gly) | gnomAD v3 gnomAD v4 |
11 | g.18269327T= | CA1955523733 | SAA1 | c.224T= (p.Val75=) |