UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.46010968_46010986dup | CA9886441 | MMP9 | c.567_585dup (p.Pro196ThrfsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46010981C>A | CA409212951 | MMP9 | c.580C>A (p.Pro194Thr) | COSMIC |
| 20 | g.46010981C= | CA2366478564 | MMP9 | c.580C= (p.Pro194=) | |
| 20 | g.46010981C>G | CA409212952 | MMP9 | c.580C>G (p.Pro194Ala) | gnomAD v4 |
| 20 | g.46010981C>T | CA9886448 | MMP9 | c.580C>T (p.Pro194Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46010982C>A | CA409212953 | MMP9 | c.581C>A (p.Pro194His) | |
| 20 | g.46010982C>G | CA409212954 | MMP9 | c.581C>G (p.Pro194Arg) | |
| 20 | g.46010982C>T | CA409212955 | MMP9 | c.581C>T (p.Pro194Leu) | gnomAD v4 |
| 20 | g.46010983T>A | CA510751682 | MMP9 | c.582T>A (p.Pro194=) | ClinVar |
| 20 | g.46010983T>C | CA510751683 | MMP9 | c.582T>C (p.Pro194=) | gnomAD v4 |
| 20 | g.46010983T>G | CA9886449 | MMP9 | c.582T>G (p.Pro194=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46010983T= | CA2366478565 | MMP9 | c.582T= (p.Pro194=) | |
| 20 | g.46010984G>A | CA409212956 | MMP9 | c.583G>A (p.Gly195Ser) | |
| 20 | g.46010984G>C | CA409212957 | MMP9 | c.583G>C (p.Gly195Arg) | |
| 20 | g.46010984G>T | CA409212958 | MMP9 | c.583G>T (p.Gly195Cys) | |
| 20 | g.46010985G>A | CA9886450 | MMP9 | c.584G>A (p.Gly195Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 20 | g.46010985G>C | CA409212959 | MMP9 | c.584G>C (p.Gly195Ala) | |
| 20 | g.46010985G= | CA2366478566 | MMP9 | c.584G= (p.Gly195=) | |
| 20 | g.46010985G>T | CA409212960 | MMP9 | c.584G>T (p.Gly195Val) | |
| 20 | g.46010986C>A | CA510751684 | MMP9 | c.585C>A (p.Gly195=) | |
| 20 | g.46010986C>G | CA510751685 | MMP9 | c.585C>G (p.Gly195=) | |
| 20 | g.46010986C>T | CA510751686 | MMP9 | c.585C>T (p.Gly195=) | gnomAD v4 |
| 20 | g.46010987C>A | CA409212962 | MMP9 | c.586C>A (p.Pro196Thr) | dbSNP gnomAD v2 |
| 20 | g.46010987C= | CA2366478567 | MMP9 | c.586C= (p.Pro196=) | |
| 20 | g.46010987C>G | CA409212961 | MMP9 | c.586C>G (p.Pro196Ala) | |
| 20 | g.46010987C>T | CA9886451 | MMP9 | c.586C>T (p.Pro196Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46010988C>A | CA409212963 | MMP9 | c.587C>A (p.Pro196His) | |
| 20 | g.46010988C>G | CA409212964 | MMP9 | c.587C>G (p.Pro196Arg) | |
| 20 | g.46010988C>T | CA409212965 | MMP9 | c.587C>T (p.Pro196Leu) | dbSNP |
| 20 | g.46010989C>A | CA510751687 | MMP9 | c.588C>A (p.Pro196=) | |
| 20 | g.46010989C= | CA2366478568 | MMP9 | c.588C= (p.Pro196=) | |
| 20 | g.46010989C>G | CA510751688 | MMP9 | c.588C>G (p.Pro196=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46010989C>T | CA9886452 | MMP9 | c.588C>T (p.Pro196=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46010990G>A | CA409212966 | MMP9 | c.589G>A (p.Gly197Ser) | |
| 20 | g.46010990G>C | CA409212967 | MMP9 | c.589G>C (p.Gly197Arg) | |
| 20 | g.46010990G>T | CA409212968 | MMP9 | c.589G>T (p.Gly197Cys) | gnomAD v4 |
| 20 | g.46010991dup | CA2653117874 | MMP9 | c.590dup (p.Ile198HisfsTer10) | gnomAD v4 |
| 20 | g.46010991G>A | CA409212969 | MMP9 | c.590G>A (p.Gly197Asp) | gnomAD v4 |
| 20 | g.46010991G>C | CA409212970 | MMP9 | c.590G>C (p.Gly197Ala) | |
| 20 | g.46010991G>T | CA409212971 | MMP9 | c.590G>T (p.Gly197Val) | |
| 20 | g.46010992C>A | CA510751691 | MMP9 | c.591C>A (p.Gly197=) | dbSNP |
| 20 | g.46010992C= | CA2366478569 | MMP9 | c.591C= (p.Gly197=) | |
| 20 | g.46010992C>G | CA510751689 | MMP9 | c.591C>G (p.Gly197=) | |
| 20 | g.46010992C>T | CA510751690 | MMP9 | c.591C>T (p.Gly197=) | |
| 20 | g.46010993A>C | CA409212972 | MMP9 | c.592A>C (p.Ile198Leu) | |
| 20 | g.46010993A>G | CA409212973 | MMP9 | c.592A>G (p.Ile198Val) | |
| 20 | g.46010993A>T | CA409212974 | MMP9 | c.592A>T (p.Ile198Phe) | |
| 20 | g.46010994T>A | CA409212976 | MMP9 | c.593T>A (p.Ile198Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46010994T>C | CA409212977 | MMP9 | c.593T>C (p.Ile198Thr) | gnomAD v4 |
| 20 | g.46010994T>G | CA409212975 | MMP9 | c.593T>G (p.Ile198Ser) | |
| 20 | g.46010994T= | CA2366478570 | MMP9 | c.593T= (p.Ile198=) | |
| 20 | g.46010995T>A | CA510751692 | MMP9 | c.594T>A (p.Ile198=) | |
| 20 | g.46010995T>C | CA510751693 | MMP9 | c.594T>C (p.Ile198=) | |
| 20 | g.46010995T>G | CA409212978 | MMP9 | c.594T>G (p.Ile198Met) | |
| 20 | g.46010996C>A | CA409212979 | MMP9 | c.595C>A (p.Gln199Lys) | |
| 20 | g.46010996C>G | CA409212980 | MMP9 | c.595C>G (p.Gln199Glu) | |
| 20 | g.46010996C>T | CA409212981 | MMP9 | c.595C>T (p.Gln199Ter) | |
| 20 | g.46010997A>C | CA409212982 | MMP9 | c.596A>C (p.Gln199Pro) | |
| 20 | g.46010997A>G | CA409212983 | MMP9 | c.596A>G (p.Gln199Arg) | |
| 20 | g.46010997A>T | CA409212984 | MMP9 | c.596A>T (p.Gln199Leu) | |
| 20 | g.46010998G>A | CA510751694 | MMP9 | c.597G>A (p.Gln199=) | |
| 20 | g.46010998G>C | CA9886453 | MMP9 | c.597G>C (p.Gln199His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46010998G= | CA2366478571 | MMP9 | c.597G= (p.Gln199=) | |
| 20 | g.46010998G>T | CA409212985 | MMP9 | c.597G>T (p.Gln199His) | |
| 20 | g.46010999G>A | CA409212986 | MMP9 | c.598G>A (p.Gly200Arg) | dbSNP gnomAD v4 |
| 20 | g.46010999G>C | CA409212987 | MMP9 | c.598G>C (p.Gly200Arg) | |
| 20 | g.46010999G= | CA2366478572 | MMP9 | c.598G= (p.Gly200=) | |
| 20 | g.46010999G>T | CA409212988 | MMP9 | c.598G>T (p.Gly200Ter) | |
| 20 | g.46011000G>A | CA409212989 | MMP9 | c.599G>A (p.Gly200Glu) | gnomAD v4 |
| 20 | g.46011000G>C | CA409212990 | MMP9 | c.599G>C (p.Gly200Ala) | |
| 20 | g.46011000G>T | CA409212991 | MMP9 | c.599G>T (p.Gly200Val) | |
| 20 | g.46011001A>C | CA510751695 | MMP9 | c.600A>C (p.Gly200=) | |
| 20 | g.46011001A>G | CA510751696 | MMP9 | c.600A>G (p.Gly200=) | |
| 20 | g.46011001A>T | CA510751697 | MMP9 | c.600A>T (p.Gly200=) | |
| 20 | g.46011002G>A | CA409212992 | MMP9 | c.601G>A (p.Asp201Asn) | |
| 20 | g.46011002G>C | CA409212994 | MMP9 | c.601G>C (p.Asp201His) | gnomAD v4 |
| 20 | g.46011002G>T | CA409212993 | MMP9 | c.601G>T (p.Asp201Tyr) | |
| 20 | g.46011003A>C | CA409212995 | MMP9 | c.602A>C (p.Asp201Ala) | |
| 20 | g.46011003A>G | CA409212996 | MMP9 | c.602A>G (p.Asp201Gly) | |
| 20 | g.46011003A>T | CA409212997 | MMP9 | c.602A>T (p.Asp201Val) | |
| 20 | g.46011004C>A | CA409212998 | MMP9 | c.603C>A (p.Asp201Glu) | |
| 20 | g.46011004C= | CA2366478573 | MMP9 | c.603C= (p.Asp201=) | |
| 20 | g.46011004C>G | CA409212999 | MMP9 | c.603C>G (p.Asp201Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46011004C>T | CA510751698 | MMP9 | c.603C>T (p.Asp201=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46011005G>A | CA409213000 | MMP9 | c.604G>A (p.Ala202Thr) | COSMIC |
| 20 | g.46011005G>C | CA409213001 | MMP9 | c.604G>C (p.Ala202Pro) | |
| 20 | g.46011005G= | CA2366478574 | MMP9 | c.604G= (p.Ala202=) | |
| 20 | g.46011005G>T | CA409213002 | MMP9 | c.604G>T (p.Ala202Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46011006C>A | CA409213003 | MMP9 | c.605C>A (p.Ala202Asp) | |
| 20 | g.46011006C>G | CA409213004 | MMP9 | c.605C>G (p.Ala202Gly) | |
| 20 | g.46011006C>T | CA409213005 | MMP9 | c.605C>T (p.Ala202Val) | |
| 20 | g.46011007C>A | CA510751699 | MMP9 | c.606C>A (p.Ala202=) | |
| 20 | g.46011007C>G | CA510751700 | MMP9 | c.606C>G (p.Ala202=) | gnomAD v4 |
| 20 | g.46011007C>T | CA510751701 | MMP9 | c.606C>T (p.Ala202=) | gnomAD v4 |
| 20 | g.46011008C>A | CA409213006 | MMP9 | c.607C>A (p.His203Asn) | |
| 20 | g.46011008C= | CA2366478575 | MMP9 | c.607C= (p.His203=) | |
| 20 | g.46011008C>G | CA409213007 | MMP9 | c.607C>G (p.His203Asp) | |
| 20 | g.46011008C>T | CA9886454 | MMP9 | c.607C>T (p.His203Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46011009A>C | CA409213008 | MMP9 | c.608A>C (p.His203Pro) | |
| 20 | g.46011009A>G | CA409213009 | MMP9 | c.608A>G (p.His203Arg) | |
| 20 | g.46011009A>T | CA409213010 | MMP9 | c.608A>T (p.His203Leu) | |
| 20 | g.46011010T>A | CA409213011 | MMP9 | c.609T>A (p.His203Gln) | |
| 20 | g.46011010T>C | CA510751702 | MMP9 | c.609T>C (p.His203=) | |
| 20 | g.46011010T>G | CA409213012 | MMP9 | c.609T>G (p.His203Gln) | |
| 20 | g.46011011T>A | CA409213013 | MMP9 | c.610T>A (p.Phe204Ile) | |
| 20 | g.46011011T>C | CA409213014 | MMP9 | c.610T>C (p.Phe204Leu) | |
| 20 | g.46011011T>G | CA409213015 | MMP9 | c.610T>G (p.Phe204Val) | |
| 20 | g.46011012T>A | CA409213016 | MMP9 | c.611T>A (p.Phe204Tyr) | |
| 20 | g.46011012T>C | CA409213017 | MMP9 | c.611T>C (p.Phe204Ser) | |
| 20 | g.46011012T>G | CA409213018 | MMP9 | c.611T>G (p.Phe204Cys) | gnomAD v4 |
| 20 | g.46011013C>A | CA409213019 | MMP9 | c.612C>A (p.Phe204Leu) | |
| 20 | g.46011013C>G | CA409213020 | MMP9 | c.612C>G (p.Phe204Leu) | |
| 20 | g.46011013C>T | CA510751703 | MMP9 | c.612C>T (p.Phe204=) | COSMIC |
| 20 | g.46011014G>A | CA409213022 | MMP9 | c.613G>A (p.Asp205Asn) | |
| 20 | g.46011014G>C | CA409213023 | MMP9 | c.613G>C (p.Asp205His) | |
| 20 | g.46011014G>T | CA409213021 | MMP9 | c.613G>T (p.Asp205Tyr) | |
| 20 | g.46011015A>C | CA409213024 | MMP9 | c.614A>C (p.Asp205Ala) | |
| 20 | g.46011015A>G | CA409213025 | MMP9 | c.614A>G (p.Asp205Gly) | |
| 20 | g.46011015A>T | CA409213026 | MMP9 | c.614A>T (p.Asp205Val) | |
| 20 | g.46011016C>A | CA409213027 | MMP9 | c.615C>A (p.Asp205Glu) | |
| 20 | g.46011016C= | CA2366478576 | MMP9 | c.615C= (p.Asp205=) | |
| 20 | g.46011016C>G | CA409213028 | MMP9 | c.615C>G (p.Asp205Glu) | |
| 20 | g.46011016C>T | CA510751704 | MMP9 | c.615C>T (p.Asp205=) | dbSNP gnomAD v2 |
| 20 | g.46011017G>A | CA409213031 | MMP9 | c.616G>A (p.Asp206Asn) | dbSNP gnomAD v4 |
| 20 | g.46011017G>C | CA409213030 | MMP9 | c.616G>C (p.Asp206His) | dbSNP |
| 20 | g.46011017G= | CA2366478577 | MMP9 | c.616G= (p.Asp206=) | |
| 20 | g.46011017G>T | CA409213029 | MMP9 | c.616G>T (p.Asp206Tyr) | |
| 20 | g.46011018A= | CA2366478578 | MMP9 | c.617A= (p.Asp206=) | |
| 20 | g.46011018A>C | CA409213032 | MMP9 | c.617A>C (p.Asp206Ala) | |
| 20 | g.46011018A>G | CA409213033 | MMP9 | c.617A>G (p.Asp206Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46011018A>T | CA409213034 | MMP9 | c.617A>T (p.Asp206Val) | gnomAD v4 |
| 20 | g.46011019T>A | CA409213035 | MMP9 | c.618T>A (p.Asp206Glu) | dbSNP |
| 20 | g.46011019T>C | CA9886455 | MMP9 | c.618T>C (p.Asp206=) | dbSNP ExAC gnomAD v2 |
| 20 | g.46011019T>G | CA409213036 | MMP9 | c.618T>G (p.Asp206Glu) | |
| 20 | g.46011019T= | CA2366478579 | MMP9 | c.618T= (p.Asp206=) | |
| 20 | g.46011020G>A | CA409213037 | MMP9 | c.619G>A (p.Asp207Asn) | |
| 20 | g.46011020G>C | CA409213039 | MMP9 | c.619G>C (p.Asp207His) | |
| 20 | g.46011020G>T | CA409213038 | MMP9 | c.619G>T (p.Asp207Tyr) | |
| 20 | g.46011021A>C | CA409213040 | MMP9 | c.620A>C (p.Asp207Ala) | |
| 20 | g.46011021A>G | CA409213042 | MMP9 | c.620A>G (p.Asp207Gly) | |
| 20 | g.46011021A>T | CA409213041 | MMP9 | c.620A>T (p.Asp207Val) | |
| 20 | g.46011022C>A | CA409213043 | MMP9 | c.621C>A (p.Asp207Glu) | |
| 20 | g.46011022C= | CA2366478580 | MMP9 | c.621C= (p.Asp207=) | |
| 20 | g.46011022C>G | CA409213044 | MMP9 | c.621C>G (p.Asp207Glu) | |
| 20 | g.46011022C>T | CA9886456 | MMP9 | c.621C>T (p.Asp207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46011023G>A | CA315634947 | MMP9 | c.622G>A (p.Glu208Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46011023G>C | CA9886457 | MMP9 | c.622G>C (p.Glu208Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46011023G= | CA2366478581 | MMP9 | c.622G= (p.Glu208=) | |
| 20 | g.46011023G>T | CA409213045 | MMP9 | c.622G>T (p.Glu208Ter) | gnomAD v4 COSMIC |
| 20 | g.46011024A>C | CA409213046 | MMP9 | c.623A>C (p.Glu208Ala) | |
| 20 | g.46011024A>G | CA409213048 | MMP9 | c.623A>G (p.Glu208Gly) | |
| 20 | g.46011024A>T | CA409213047 | MMP9 | c.623A>T (p.Glu208Val) | gnomAD v4 |
| 20 | g.46011025G>A | CA510751705 | MMP9 | c.624G>A (p.Glu208=) | |
| 20 | g.46011025G>C | CA409213049 | MMP9 | c.624G>C (p.Glu208Asp) | |
| 20 | g.46011025G>T | CA409213050 | MMP9 | c.624G>T (p.Glu208Asp) | gnomAD v4 |
| 20 | g.46011026T>A | CA409213051 | MMP9 | c.625T>A (p.Leu209Met) | |
| 20 | g.46011026T>C | CA315634948 | MMP9 | c.625T>C (p.Leu209=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46011026T>G | CA409213052 | MMP9 | c.625T>G (p.Leu209Val) | |
| 20 | g.46011026T= | CA2366478582 | MMP9 | c.625T= (p.Leu209=) | |
| 20 | g.46011027T>A | CA409213053 | MMP9 | c.626T>A (p.Leu209Ter) | |
| 20 | g.46011027T>C | CA409213054 | MMP9 | c.626T>C (p.Leu209Ser) | gnomAD v4 |
| 20 | g.46011027T>G | CA409213055 | MMP9 | c.626T>G (p.Leu209Trp) | |
| 20 | g.46011028G>A | CA510751706 | MMP9 | c.627G>A (p.Leu209=) | gnomAD v4 |
| 20 | g.46011028G>C | CA409213056 | MMP9 | c.627G>C (p.Leu209Phe) | |
| 20 | g.46011028G>T | CA409213057 | MMP9 | c.627G>T (p.Leu209Phe) | |
| 20 | g.46011029T>A | CA409213058 | MMP9 | c.628T>A (p.Trp210Arg) | |
| 20 | g.46011029T>C | CA409213059 | MMP9 | c.628T>C (p.Trp210Arg) | gnomAD v4 |
| 20 | g.46011029T>G | CA409213060 | MMP9 | c.628T>G (p.Trp210Gly) | |
| 20 | g.46011030G>A | CA409213061 | MMP9 | c.629G>A (p.Trp210Ter) | |
| 20 | g.46011030G>C | CA409213063 | MMP9 | c.629G>C (p.Trp210Ser) | |
| 20 | g.46011030G>T | CA409213062 | MMP9 | c.629G>T (p.Trp210Leu) | gnomAD v4 |
| 20 | g.46011031G>A | CA9886458 | MMP9 | c.630G>A (p.Trp210Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46011031G>C | CA409213066 | MMP9 | c.630G>C (p.Trp210Cys) | |
| 20 | g.46011031G= | CA2366478583 | MMP9 | c.630G= (p.Trp210=) | |
| 20 | g.46011031G>T | CA409213069 | MMP9 | c.630G>T (p.Trp210Cys) | |
| 20 | g.46011032T>A | CA409213071 | MMP9 | c.631T>A (p.Ser211Thr) | |
| 20 | g.46011032T>C | CA409213072 | MMP9 | c.631T>C (p.Ser211Pro) | gnomAD v2 gnomAD v4 |
| 20 | g.46011032T>G | CA409213073 | MMP9 | c.631T>G (p.Ser211Ala) | |
| 20 | g.46011033C>A | CA409213075 | MMP9 | c.632C>A (p.Ser211Tyr) | |
| 20 | g.46011033C>G | CA409213076 | MMP9 | c.632C>G (p.Ser211Cys) | |
| 20 | g.46011033C>T | CA409213077 | MMP9 | c.632C>T (p.Ser211Phe) | COSMIC |
| 20 | g.46011034C>A | CA510751707 | MMP9 | c.633C>A (p.Ser211=) | |
| 20 | g.46011034C>G | CA510751708 | MMP9 | c.633C>G (p.Ser211=) | |
| 20 | g.46011034C>T | CA510751709 | MMP9 | c.633C>T (p.Ser211=) | gnomAD v4 |
| 20 | g.46011035C>A | CA409213078 | MMP9 | c.634C>A (p.Leu212Met) | |
| 20 | g.46011035C= | CA2366478584 | MMP9 | c.634C= (p.Leu212=) | |
| 20 | g.46011035C>G | CA409213080 | MMP9 | c.634C>G (p.Leu212Val) | dbSNP gnomAD v2 |
| 20 | g.46011035C>T | CA315634949 | MMP9 | c.634C>T (p.Leu212=) | dbSNP gnomAD v4 |
| 20 | g.46011036T>A | CA409213082 | MMP9 | c.635T>A (p.Leu212Gln) | |
| 20 | g.46011036T>C | CA409213083 | MMP9 | c.635T>C (p.Leu212Pro) | dbSNP gnomAD v4 |
| 20 | g.46011036T>G | CA409213087 | MMP9 | c.635T>G (p.Leu212Arg) | |
| 20 | g.46011036T= | CA2366478585 | MMP9 | c.635T= (p.Leu212=) | |
| 20 | g.46011037G>A | CA9886459 | MMP9 | c.636G>A (p.Leu212=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46011037G>C | CA510751710 | MMP9 | c.636G>C (p.Leu212=) | |
| 20 | g.46011037G= | CA2366478586 | MMP9 | c.636G= (p.Leu212=) | |
| 20 | g.46011037G>T | CA510751711 | MMP9 | c.636G>T (p.Leu212=) | |
| 20 | g.46011038G>A | CA409213093 | MMP9 | c.637G>A (p.Gly213Ser) | |
| 20 | g.46011038G>C | CA409213091 | MMP9 | c.637G>C (p.Gly213Arg) | |
| 20 | g.46011038G>T | CA409213090 | MMP9 | c.637G>T (p.Gly213Cys) | |
| 20 | g.46011039G>A | CA9886460 | MMP9 | c.638G>A (p.Gly213Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46011039G>C | CA409213094 | MMP9 | c.638G>C (p.Gly213Ala) | |
| 20 | g.46011039G= | CA2366478587 | MMP9 | c.638G= (p.Gly213=) | |
| 20 | g.46011039G>T | CA409213095 | MMP9 | c.638G>T (p.Gly213Val) | |
| 20 | g.46011040C>A | CA510751714 | MMP9 | c.639C>A (p.Gly213=) | |
| 20 | g.46011040C>G | CA510751713 | MMP9 | c.639C>G (p.Gly213=) | |
| 20 | g.46011040C>T | CA510751712 | MMP9 | c.639C>T (p.Gly213=) | gnomAD v4 |
| 20 | g.46011041A>C | CA409213096 | MMP9 | c.640A>C (p.Lys214Gln) | |
| 20 | g.46011041A>G | CA409213097 | MMP9 | c.640A>G (p.Lys214Glu) | |
| 20 | g.46011041A>T | CA409213098 | MMP9 | c.640A>T (p.Lys214Ter) | |
| 20 | g.46011042A>C | CA409213099 | MMP9 | c.641A>C (p.Lys214Thr) | |
| 20 | g.46011042A>G | CA409213103 | MMP9 | c.641A>G (p.Lys214Arg) | gnomAD v4 |
| 20 | g.46011042A>T | CA409213101 | MMP9 | c.641A>T (p.Lys214Met) | |
| 20 | g.46011043G>A | CA510751715 | MMP9 | c.642G>A (p.Lys214=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46011043G>C | CA409213105 | MMP9 | c.642G>C (p.Lys214Asn) | |
| 20 | g.46011043G= | CA2366478588 | MMP9 | c.642G= (p.Lys214=) | |
| 20 | g.46011043G>T | CA409213107 | MMP9 | c.642G>T (p.Lys214Asn) | gnomAD v4 |
| 20 | g.46011044G>A | CA409213109 | MMP9 | c.643G>A (p.Gly215Ser) | gnomAD v4 |
| 20 | g.46011044G>C | CA409213111 | MMP9 | c.643G>C (p.Gly215Arg) | gnomAD v4 |
| 20 | g.46011044G>T | CA409213112 | MMP9 | c.643G>T (p.Gly215Cys) | |
| 20 | g.46011045G>A | CA409213114 | MMP9 | c.644G>A (p.Gly215Asp) | |
| 20 | g.46011045G>C | CA409213116 | MMP9 | c.644G>C (p.Gly215Ala) | gnomAD v4 |
| 20 | g.46011045G>T | CA409213118 | MMP9 | c.644G>T (p.Gly215Val) | |
| 20 | g.46011046C>A | CA510751716 | MMP9 | c.645C>A (p.Gly215=) | |
| 20 | g.46011046C>G | CA510751718 | MMP9 | c.645C>G (p.Gly215=) | |
| 20 | g.46011046C>T | CA510751717 | MMP9 | c.645C>T (p.Gly215=) | COSMIC |
| 20 | g.46011047G>A | CA409213120 | MMP9 | c.646G>A (p.Val216Ile) | |
| 20 | g.46011047G>C | CA409213122 | MMP9 | c.646G>C (p.Val216Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46011047G= | CA2366478589 | MMP9 | c.646G= (p.Val216=) | |
| 20 | g.46011047G>T | CA409213124 | MMP9 | c.646G>T (p.Val216Phe) | |
| 20 | g.46011048T>A | CA409213127 | MMP9 | c.647T>A (p.Val216Asp) | |
| 20 | g.46011048T>C | CA409213126 | MMP9 | c.647T>C (p.Val216Ala) | |
| 20 | g.46011048T>G | CA409213125 | MMP9 | c.647T>G (p.Val216Gly) | |
| 20 | g.46011049C>A | CA510751719 | MMP9 | c.648C>A (p.Val216=) | |
| 20 | g.46011049C>G | CA510751720 | MMP9 | c.648C>G (p.Val216=) | |
| 20 | g.46011049C>T | CA510751721 | MMP9 | c.648C>T (p.Val216=) | gnomAD v4 COSMIC |
| 20 | g.46011050G>A | CA409213128 | MMP9 | c.649G>A (p.Val217Met) | dbSNP gnomAD v4 COSMIC |
| 20 | g.46011050G>C | CA409213132 | MMP9 | c.649G>C (p.Val217Leu) | |
| 20 | g.46011050G= | CA2366478590 | MMP9 | c.649G= (p.Val217=) | |
| 20 | g.46011050G>T | CA409213130 | MMP9 | c.649G>T (p.Val217Leu) | |
| 20 | g.46011051G>A | CA409213134 | MMP9 | c.649+1G>A (n.649+1G>A) | |
| 20 | g.46011051G>C | CA409213136 | MMP9 | c.649+1G>C (n.649+1G>C) | |
| 20 | g.46011051G>T | CA409213139 | MMP9 | c.649+1G>T (n.649+1G>T) | |
| 20 | g.46011052T>A | CA409213141 | MMP9 | c.649+2T>A (n.649+2T>A) | |
| 20 | g.46011052T>C | CA409213142 | MMP9 | c.649+2T>C (n.649+2T>C) | |
| 20 | g.46011052T>G | CA409213143 | MMP9 | c.649+2T>G (n.649+2T>G) | gnomAD v4 |
| 20 | g.46011053G>A | CA2580582318 | MMP9 | c.649+3G>A (n.649+3G>A) | |
| 20 | g.46011053G>C | CA2580582319 | MMP9 | c.649+3G>C (n.649+3G>C) | |
| 20 | g.46011053G= | CA2366478591 | MMP9 | c.649+3G= (n.649+3G=) | |
| 20 | g.46011053G>T | CA9886461 | MMP9 | c.649+3G>T (n.649+3G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46011054A= | CA2366478592 | MMP9 | c.649+4A= (n.649+4A=) | |
| 20 | g.46011054A>T | CA636176591 | MMP9 | c.649+4A>T (n.649+4A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46011056A= | CA2366478593 | MMP9 | c.649+6A= (n.649+6A=) | |
| 20 | g.46011056A>T | CA636176592 | MMP9 | c.649+6A>T (n.649+6A>T) | dbSNP gnomAD v2 |
| 20 | g.46011060T>A | CA2816507394 | MMP9 | c.649+10T>A (n.649+10T>A) | |
| 20 | g.46011060T>C | CA2653117967 | MMP9 | c.649+10T>C (n.649+10T>C) | gnomAD v4 |
| 20 | g.46011062A= | CA2366478594 | MMP9 | c.649+12A= (n.649+12A=) | |
| 20 | g.46011062A>C | CA2653117969 | MMP9 | c.649+12A>C (n.649+12A>C) | gnomAD v4 |
| 20 | g.46011062A>T | CA744848446 | MMP9 | c.649+12A>T (n.649+12A>T) | dbSNP |
| 20 | g.46011066C= | CA2366478595 | MMP9 | c.649+16C= (n.649+16C=) | |
| 20 | g.46011066C>G | CA2366478596 | MMP9 | c.649+16C>G (n.649+16C>G) | dbSNP gnomAD v4 |
| 20 | g.46011066C>T | CA9886462 | MMP9 | c.649+16C>T (n.649+16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46011068C= | CA2366478597 | MMP9 | c.649+18C= (n.649+18C=) | |
| 20 | g.46011068C>T | CA315634955 | MMP9 | c.649+18C>T (n.649+18C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46011070del | CA2577205840 | MMP9 | c.649+20del (n.649+20del) | |
| 20 | g.46011071G>A | CA9886463 | MMP9 | c.649+21G>A (n.649+21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46011071G= | CA2366478598 | MMP9 | c.649+21G= (n.649+21G=) | |
| 20 | g.46011071G>T | CA636176593 | MMP9 | c.649+21G>T (n.649+21G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46011072G>C | CA2816507396 | MMP9 | c.649+22G>C (n.649+22G>C) | |
| 20 | g.46011073C>T | CA2577205842 | MMP9 | c.649+23C>T (n.649+23C>T) | |
| 20 | g.46011074C>T | CA2653117974 | MMP9 | c.649+24C>T (n.649+24C>T) | gnomAD v4 |
| 20 | g.46011075C= | CA2366478600 | MMP9 | c.649+25C= (n.649+25C=) | |
| 20 | g.46011075C>T | CA315634967 | MMP9 | c.649+25C>T (n.649+25C>T) | dbSNP gnomAD v2 |
| 20 | g.46011075_46011077delinsCCT | CA2366478599 | MMP9 | c.649+25_649+27delinsCCT (n.649+25_649+27delinsCCT) | |
| 20 | g.46011076_46011077del | CA2366478601 | MMP9 | c.649+26_649+27del (n.649+26_649+27del) | dbSNP gnomAD v4 |
| 20 | g.46011077T>A | CA636176594 | MMP9 | c.649+27T>A (n.649+27T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.46011077T= | CA2366478602 | MMP9 | c.649+27T= (n.649+27T=) | |
| 20 | g.46011079A= | CA2366478603 | MMP9 | c.649+29A= (n.649+29A=) | |
| 20 | g.46011079A>G | CA9886464 | MMP9 | c.649+29A>G (n.649+29A>G) | dbSNP ExAC gnomAD v2 |
| 20 | g.46011080T>G | CA2816507397 | MMP9 | c.649+30T>G (n.649+30T>G) | |
| 20 | g.46011081T>C | CA315634980 | MMP9 | c.649+31T>C (n.649+31T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.46011081T= | CA2366478604 | MMP9 | c.649+31T= (n.649+31T=) |