Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.59153374G>A | CA344770 | FAM111A | c.1706G>A (p.Arg569His) c.1586G>A (p.Arg529His) | ClinVar dbSNP |
11 | g.59153374G>C | CA380789907 | FAM111A | c.1706G>C (p.Arg569Pro) c.1586G>C (p.Arg529Pro) | |
11 | g.59153374G= | CA1976277329 | FAM111A | c.1706G= (p.Arg569=) c.1586G= (p.Arg529=) | |
11 | g.59153374G>T | CA380789908 | FAM111A | c.1706G>T (p.Arg569Leu) c.1586G>T (p.Arg529Leu) | |
11 | g.59153375T>A | CA474820459 | FAM111A | c.1707T>A (p.Arg569=) c.1587T>A (p.Arg529=) | |
11 | g.59153375T>C | CA474820458 | FAM111A | c.1707T>C (p.Arg569=) c.1587T>C (p.Arg529=) | |
11 | g.59153375T>G | CA474820457 | FAM111A | c.1707T>G (p.Arg569=) c.1587T>G (p.Arg529=) | |
11 | g.59153376A= | CA1976277334 | FAM111A | c.1708A= (p.Ser570=) c.1588A= (p.Ser530=) | |
11 | g.59153376A>C | CA380789911 | FAM111A | c.1708A>C (p.Ser570Arg) c.1588A>C (p.Ser530Arg) | |
11 | g.59153376A>G | CA380789915 | FAM111A | c.1708A>G (p.Ser570Gly) c.1588A>G (p.Ser530Gly) | gnomAD v4 COSMIC |
11 | g.59153376A>T | CA6016822 | FAM111A | c.1708A>T (p.Ser570Cys) c.1588A>T (p.Ser530Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.59153377G>A | CA380789926 | FAM111A | c.1709G>A (p.Ser570Asn) c.1589G>A (p.Ser530Asn) | dbSNP gnomAD v4 |
11 | g.59153377G>C | CA380789921 | FAM111A | c.1709G>C (p.Ser570Thr) c.1589G>C (p.Ser530Thr) | gnomAD v4 |
11 | g.59153377G= | CA1976277337 | FAM111A | c.1709G= (p.Ser570=) c.1589G= (p.Ser530=) | |
11 | g.59153377G>T | CA380789923 | FAM111A | c.1709G>T (p.Ser570Ile) c.1589G>T (p.Ser530Ile) | |
11 | g.59153378T>A | CA380789930 | FAM111A | c.1710T>A (p.Ser570Arg) c.1590T>A (p.Ser530Arg) | |
11 | g.59153378T>C | CA474820463 | FAM111A | c.1710T>C (p.Ser570=) c.1590T>C (p.Ser530=) | |
11 | g.59153378T>G | CA380789935 | FAM111A | c.1710T>G (p.Ser570Arg) c.1590T>G (p.Ser530Arg) | |
11 | g.59153378_59153381delinsTATC | CA1976277341 | FAM111A | c.1710_1713delinsTATC (p.Ser570=) c.1590_1593delinsTATC (p.Ser530=) | |
11 | g.59153379A= | CA1976277345 | FAM111A | c.1711A= (p.Ile571=) c.1591A= (p.Ile531=) | |
11 | g.59153379A>C | CA380789937 | FAM111A | c.1711A>C (p.Ile571Leu) c.1591A>C (p.Ile531Leu) | |
11 | g.59153379A>G | CA380789939 | FAM111A | c.1711A>G (p.Ile571Val) c.1591A>G (p.Ile531Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.59153379A>T | CA380789942 | FAM111A | c.1711A>T (p.Ile571Phe) c.1591A>T (p.Ile531Phe) | |
11 | g.59153381_59153383del | CA6016823 | FAM111A | c.1713_1715del (p.Ile572del) c.1593_1595del (p.Ile532del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.59153380T>A | CA380789954 | FAM111A | c.1712T>A (p.Ile571Asn) c.1592T>A (p.Ile531Asn) | |
11 | g.59153380T>C | CA380789946 | FAM111A | c.1712T>C (p.Ile571Thr) c.1592T>C (p.Ile531Thr) | |
11 | g.59153380T>G | CA380789948 | FAM111A | c.1712T>G (p.Ile571Ser) c.1592T>G (p.Ile531Ser) | |
11 | g.59153381C>A | CA474820464 | FAM111A | c.1713C>A (p.Ile571=) c.1593C>A (p.Ile531=) | |
11 | g.59153381C>G | CA380789956 | FAM111A | c.1713C>G (p.Ile571Met) c.1593C>G (p.Ile531Met) | |
11 | g.59153381C>T | CA474820465 | FAM111A | c.1713C>T (p.Ile571=) c.1593C>T (p.Ile531=) | |
11 | g.59153381_59153384delinsCATT | CA1976277349 | FAM111A | c.1713_1716delinsCATT (p.Ile571=) c.1593_1596delinsCATT (p.Ile531=) | |
11 | g.59153382A>C | CA380789960 | FAM111A | c.1714A>C (p.Ile572Leu) c.1594A>C (p.Ile532Leu) | |
11 | g.59153382A>G | CA380789963 | FAM111A | c.1714A>G (p.Ile572Val) c.1594A>G (p.Ile532Val) | |
11 | g.59153382A>T | CA380789967 | FAM111A | c.1714A>T (p.Ile572Phe) c.1594A>T (p.Ile532Phe) | |
11 | g.59153382_59153384del | CA6016824 | FAM111A | c.1714_1716del (p.Ile572del) c.1594_1596del (p.Ile532del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.59153383T>A | CA380789979 | FAM111A | c.1715T>A (p.Ile572Asn) c.1595T>A (p.Ile532Asn) | |
11 | g.59153383T>C | CA6016825 | FAM111A | c.1715T>C (p.Ile572Thr) c.1595T>C (p.Ile532Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.59153383T>G | CA380789976 | FAM111A | c.1715T>G (p.Ile572Ser) c.1595T>G (p.Ile532Ser) | |
11 | g.59153383T= | CA1976277357 | FAM111A | c.1715T= (p.Ile572=) c.1595T= (p.Ile532=) | |
11 | g.59153384T>A | CA474820466 | FAM111A | c.1716T>A (p.Ile572=) c.1596T>A (p.Ile532=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.59153384T>C | CA6016826 | FAM111A | c.1716T>C (p.Ile572=) c.1596T>C (p.Ile532=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.59153384T>G | CA380789988 | FAM111A | c.1716T>G (p.Ile572Met) c.1596T>G (p.Ile532Met) | |
11 | g.59153384T= | CA1976277361 | FAM111A | c.1716T= (p.Ile572=) c.1596T= (p.Ile532=) | |
11 | g.59153385G>A | CA380789989 | FAM111A | c.1717G>A (p.Glu573Lys) c.1597G>A (p.Glu533Lys) | |
11 | g.59153385G>C | CA380789991 | FAM111A | c.1717G>C (p.Glu573Gln) c.1597G>C (p.Glu533Gln) | |
11 | g.59153385G>T | CA380789994 | FAM111A | c.1717G>T (p.Glu573Ter) c.1597G>T (p.Glu533Ter) | |
11 | g.59153386A>C | CA380789997 | FAM111A | c.1718A>C (p.Glu573Ala) c.1598A>C (p.Glu533Ala) | |
11 | g.59153386A>G | CA380789998 | FAM111A | c.1718A>G (p.Glu573Gly) c.1598A>G (p.Glu533Gly) | |
11 | g.59153386A>T | CA380789999 | FAM111A | c.1718A>T (p.Glu573Val) c.1598A>T (p.Glu533Val) | |
11 | g.59153387G>A | CA474820097 | FAM111A | c.1719G>A (p.Glu573=) c.1599G>A (p.Glu533=) |