Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.7166365C>A | CA505199645 | INSR | c.1650G>T (p.Ala550=) n.1625G>T c.51G>T (p.Ala17=) c.1728G>T (p.Ala576=) | gnomAD v4 |
19 | g.7166365C= | CA2320788277 | INSR | c.1650G= (p.Ala550=) n.1625G= c.51G= (p.Ala17=) c.1728G= (p.Ala576=) | |
19 | g.7166365C>G | CA9135773 | INSR | c.1650G>C (p.Ala550=) n.1625G>C c.51G>C (p.Ala17=) c.1728G>C (p.Ala576=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166365C>T | CA203559 | INSR | c.1650G>A (p.Ala550=) n.1625G>A c.51G>A (p.Ala17=) c.1728G>A (p.Ala576=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166366G>A | CA403666642 | INSR | c.1649C>T (p.Ala550Val) n.1624C>T c.50C>T (p.Ala17Val) c.1727C>T (p.Ala576Val) | |
19 | g.7166366G>C | CA9135774 | INSR | c.1649C>G (p.Ala550Gly) n.1624C>G c.50C>G (p.Ala17Gly) c.1727C>G (p.Ala576Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.7166366G= | CA2320788278 | INSR | c.1649C= (p.Ala550=) n.1624C= c.50C= (p.Ala17=) c.1727C= (p.Ala576=) | |
19 | g.7166366G>T | CA403666643 | INSR | c.1649C>A (p.Ala550Glu) n.1624C>A c.50C>A (p.Ala17Glu) c.1727C>A (p.Ala576Glu) | |
19 | g.7166367C>A | CA403666644 | INSR | c.1648G>T (p.Ala550Ser) n.1623G>T c.49G>T (p.Ala17Ser) c.1726G>T (p.Ala576Ser) | |
19 | g.7166367C>G | CA403666645 | INSR | c.1648G>C (p.Ala550Pro) n.1623G>C c.49G>C (p.Ala17Pro) c.1726G>C (p.Ala576Pro) | |
19 | g.7166367C>T | CA403666646 | INSR | c.1648G>A (p.Ala550Thr) n.1623G>A c.49G>A (p.Ala17Thr) c.1726G>A (p.Ala576Thr) | |
19 | g.7166368A>C | CA403666647 | INSR | c.1647T>G (p.Asp549Glu) n.1622T>G c.48T>G (p.Asp16Glu) c.1725T>G (p.Asp575Glu) | |
19 | g.7166368A>G | CA505199660 | INSR | c.1647T>C (p.Asp549=) n.1622T>C c.48T>C (p.Asp16=) c.1725T>C (p.Asp575=) | |
19 | g.7166368A>T | CA403666648 | INSR | c.1647T>A (p.Asp549Glu) n.1622T>A c.48T>A (p.Asp16Glu) c.1725T>A (p.Asp575Glu) | |
19 | g.7166369T>A | CA403666649 | INSR | c.1646A>T (p.Asp549Val) n.1621A>T c.47A>T (p.Asp16Val) c.1724A>T (p.Asp575Val) | |
19 | g.7166369T>C | CA403666651 | INSR | c.1646A>G (p.Asp549Gly) n.1621A>G c.47A>G (p.Asp16Gly) c.1724A>G (p.Asp575Gly) | |
19 | g.7166369T>G | CA403666650 | INSR | c.1646A>C (p.Asp549Ala) n.1621A>C c.47A>C (p.Asp16Ala) c.1724A>C (p.Asp575Ala) | |
19 | g.7166370C>A | CA403666652 | INSR | c.1645G>T (p.Asp549Tyr) n.1620G>T c.46G>T (p.Asp16Tyr) c.1723G>T (p.Asp575Tyr) | |
19 | g.7166370C= | CA2320788279 | INSR | c.1645G= (p.Asp549=) n.1620G= c.46G= (p.Asp16=) c.1723G= (p.Asp575=) | |
19 | g.7166370C>G | CA403666653 | INSR | c.1645G>C (p.Asp549His) n.1620G>C c.46G>C (p.Asp16His) c.1723G>C (p.Asp575His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.7166370C>T | CA403666654 | INSR | c.1645G>A (p.Asp549Asn) n.1620G>A c.46G>A (p.Asp16Asn) c.1723G>A (p.Asp575Asn) | |
19 | g.7166371C>A | CA403666655 | INSR | c.1644G>T (p.Gln548His) n.1619G>T c.45G>T (p.Gln15His) c.1722G>T (p.Gln574His) | |
19 | g.7166371C= | CA2320788280 | INSR | c.1644G= (p.Gln548=) n.1619G= c.45G= (p.Gln15=) c.1722G= (p.Gln574=) | |
19 | g.7166371C>G | CA403666656 | INSR | c.1644G>C (p.Gln548His) n.1619G>C c.45G>C (p.Gln15His) c.1722G>C (p.Gln574His) | |
19 | g.7166371C>T | CA304856298 | INSR | c.1644G>A (p.Gln548=) n.1619G>A c.45G>A (p.Gln15=) c.1722G>A (p.Gln574=) | dbSNP |
19 | g.7166372T>A | CA403666657 | INSR | c.1643A>T (p.Gln548Leu) n.1618A>T c.44A>T (p.Gln15Leu) c.1721A>T (p.Gln574Leu) | |
19 | g.7166372T>C | CA403666658 | INSR | c.1643A>G (p.Gln548Arg) n.1618A>G c.44A>G (p.Gln15Arg) c.1721A>G (p.Gln574Arg) | |
19 | g.7166372T>G | CA403666659 | INSR | c.1643A>C (p.Gln548Pro) n.1618A>C c.44A>C (p.Gln15Pro) c.1721A>C (p.Gln574Pro) | |
19 | g.7166373G>A | CA403666660 | INSR | c.1642C>T (p.Gln548Ter) n.1617C>T c.43C>T (p.Gln15Ter) c.1720C>T (p.Gln574Ter) | |
19 | g.7166373G>C | CA403666661 | INSR | c.1642C>G (p.Gln548Glu) n.1617C>G c.43C>G (p.Gln15Glu) c.1720C>G (p.Gln574Glu) | |
19 | g.7166373G>T | CA403666662 | INSR | c.1642C>A (p.Gln548Lys) n.1617C>A c.43C>A (p.Gln15Lys) c.1720C>A (p.Gln574Lys) | |
19 | g.7166374C>A | CA505199689 | INSR | c.1641G>T (p.Gly547=) n.1616G>T c.42G>T (p.Gly14=) c.1719G>T (p.Gly573=) | |
19 | g.7166374C>G | CA505199690 | INSR | c.1641G>C (p.Gly547=) n.1616G>C c.42G>C (p.Gly14=) c.1719G>C (p.Gly573=) | |
19 | g.7166374C>T | CA505199692 | INSR | c.1641G>A (p.Gly547=) n.1616G>A c.42G>A (p.Gly14=) c.1719G>A (p.Gly573=) | |
19 | g.7166375C>A | CA403666665 | INSR | c.1640G>T (p.Gly547Val) n.1615G>T c.41G>T (p.Gly14Val) c.1718G>T (p.Gly573Val) | |
19 | g.7166375C>G | CA403666664 | INSR | c.1640G>C (p.Gly547Ala) n.1615G>C c.41G>C (p.Gly14Ala) c.1718G>C (p.Gly573Ala) | |
19 | g.7166375C>T | CA403666663 | INSR | c.1640G>A (p.Gly547Glu) n.1615G>A c.41G>A (p.Gly14Glu) c.1718G>A (p.Gly573Glu) | |
19 | g.7166376C>A | CA403666666 | INSR | c.1639G>T (p.Gly547Trp) n.1614G>T c.40G>T (p.Gly14Trp) c.1717G>T (p.Gly573Trp) | |
19 | g.7166376C= | CA2320788281 | INSR | c.1639G= (p.Gly547=) n.1614G= c.40G= (p.Gly14=) c.1717G= (p.Gly573=) | |
19 | g.7166376C>G | CA403666667 | INSR | c.1639G>C (p.Gly547Arg) n.1614G>C c.40G>C (p.Gly14Arg) c.1717G>C (p.Gly573Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.7166376C>T | CA9135775 | INSR | c.1639G>A (p.Gly547Arg) n.1614G>A c.40G>A (p.Gly14Arg) c.1717G>A (p.Gly573Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
19 | g.7166377G>A | CA9135776 | INSR | c.1638C>T (p.Asp546=) n.1613C>T c.39C>T (p.Asp13=) c.1716C>T (p.Asp572=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166377G>C | CA304856303 | INSR | c.1638C>G (p.Asp546Glu) n.1613C>G c.39C>G (p.Asp13Glu) c.1716C>G (p.Asp572Glu) | dbSNP |
19 | g.7166377G= | CA2320788282 | INSR | c.1638C= (p.Asp546=) n.1613C= c.39C= (p.Asp13=) c.1716C= (p.Asp572=) | |
19 | g.7166377G>T | CA9135777 | INSR | c.1638C>A (p.Asp546Glu) n.1613C>A c.39C>A (p.Asp13Glu) c.1716C>A (p.Asp572Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.7166378T>A | CA403666668 | INSR | c.1637A>T (p.Asp546Val) n.1612A>T c.38A>T (p.Asp13Val) c.1715A>T (p.Asp572Val) | gnomAD v4 |
19 | g.7166378T>C | CA403666669 | INSR | c.1637A>G (p.Asp546Gly) n.1612A>G c.38A>G (p.Asp13Gly) c.1715A>G (p.Asp572Gly) | |
19 | g.7166378T>G | CA403666670 | INSR | c.1637A>C (p.Asp546Ala) n.1612A>C c.38A>C (p.Asp13Ala) c.1715A>C (p.Asp572Ala) | |
19 | g.7166379C>A | CA403666671 | INSR | c.1636G>T (p.Asp546Tyr) n.1611G>T c.37G>T (p.Asp13Tyr) c.1714G>T (p.Asp572Tyr) | gnomAD v4 |
19 | g.7166379C= | CA2320788283 | INSR | c.1636G= (p.Asp546=) n.1611G= c.37G= (p.Asp13=) c.1714G= (p.Asp572=) |