Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.98913043G>A | CA393678730 | IGF1R | c.1590-1G>A (n.1590-1G>A) n.497-1G>A n.1590-1G>A c.1653-1G>A (n.1653-1G>A) c.681-1G>A (n.681-1G>A) c.255-1G>A (n.255-1G>A) c.1665-1G>A (n.1665-1G>A) c.1227-1G>A (n.1227-1G>A) | gnomAD v4 |
15 | g.98913043G>C | CA16606872 | IGF1R | c.1590-1G>C (n.1590-1G>C) n.497-1G>C n.1590-1G>C c.1653-1G>C (n.1653-1G>C) c.681-1G>C (n.681-1G>C) c.255-1G>C (n.255-1G>C) c.1665-1G>C (n.1665-1G>C) c.1227-1G>C (n.1227-1G>C) | ClinVar dbSNP |
15 | g.98913043G= | CA2199287599 | IGF1R | c.1590-1G= (n.1590-1G=) n.497-1G= n.1590-1G= c.1653-1G= (n.1653-1G=) c.681-1G= (n.681-1G=) c.255-1G= (n.255-1G=) c.1665-1G= (n.1665-1G=) c.1227-1G= (n.1227-1G=) | |
15 | g.98913043G>T | CA393678728 | IGF1R | c.1590-1G>T (n.1590-1G>T) n.497-1G>T n.1590-1G>T c.1653-1G>T (n.1653-1G>T) c.681-1G>T (n.681-1G>T) c.255-1G>T (n.255-1G>T) c.1665-1G>T (n.1665-1G>T) c.1227-1G>T (n.1227-1G>T) | gnomAD v4 |
15 | g.98913044A>C | CA492682368 | IGF1R | c.1590A>C (p.Ala530=) n.497A>C n.1590A>C c.1653A>C (p.Ala551=) c.681A>C (p.Ala227=) c.255A>C (p.Ala85=) c.1665A>C (p.Ala555=) c.1227A>C (p.Ala409=) | |
15 | g.98913044A>G | CA492682369 | IGF1R | c.1590A>G (p.Ala530=) n.497A>G n.1590A>G c.1653A>G (p.Ala551=) c.681A>G (p.Ala227=) c.255A>G (p.Ala85=) c.1665A>G (p.Ala555=) c.1227A>G (p.Ala409=) | |
15 | g.98913044A>T | CA492682370 | IGF1R | c.1590A>T (p.Ala530=) n.497A>T n.1590A>T c.1653A>T (p.Ala551=) c.681A>T (p.Ala227=) c.255A>T (p.Ala85=) c.1665A>T (p.Ala555=) c.1227A>T (p.Ala409=) | |
15 | g.98913045C>A | CA393678732 | IGF1R | c.1591C>A (p.Pro531Thr) n.498C>A n.1591C>A c.1654C>A (p.Pro552Thr) c.682C>A (p.Pro228Thr) c.256C>A (p.Pro86Thr) c.1666C>A (p.Pro556Thr) c.1228C>A (p.Pro410Thr) | gnomAD v4 |
15 | g.98913045C= | CA2199287608 | IGF1R | c.1591C= (p.Pro531=) n.498C= n.1591C= c.1654C= (p.Pro552=) c.682C= (p.Pro228=) c.256C= (p.Pro86=) c.1666C= (p.Pro556=) c.1228C= (p.Pro410=) | |
15 | g.98913045C>G | CA393678734 | IGF1R | c.1591C>G (p.Pro531Ala) n.498C>G n.1591C>G c.1654C>G (p.Pro552Ala) c.682C>G (p.Pro228Ala) c.256C>G (p.Pro86Ala) c.1666C>G (p.Pro556Ala) c.1228C>G (p.Pro410Ala) | dbSNP gnomAD v4 |
15 | g.98913045C>T | CA393678736 | IGF1R | c.1591C>T (p.Pro531Ser) n.498C>T n.1591C>T c.1654C>T (p.Pro552Ser) c.682C>T (p.Pro228Ser) c.256C>T (p.Pro86Ser) c.1666C>T (p.Pro556Ser) c.1228C>T (p.Pro410Ser) | |
15 | g.98913046C>A | CA393678738 | IGF1R | c.1592C>A (p.Pro531His) n.499C>A n.1592C>A c.1655C>A (p.Pro552His) c.683C>A (p.Pro228His) c.257C>A (p.Pro86His) c.1667C>A (p.Pro556His) c.1229C>A (p.Pro410His) | gnomAD v4 |
15 | g.98913046C= | CA2199287610 | IGF1R | c.1592C= (p.Pro531=) n.499C= n.1592C= c.1655C= (p.Pro552=) c.683C= (p.Pro228=) c.257C= (p.Pro86=) c.1667C= (p.Pro556=) c.1229C= (p.Pro410=) | |
15 | g.98913046C>G | CA393678741 | IGF1R | c.1592C>G (p.Pro531Arg) n.499C>G n.1592C>G c.1655C>G (p.Pro552Arg) c.683C>G (p.Pro228Arg) c.257C>G (p.Pro86Arg) c.1667C>G (p.Pro556Arg) c.1229C>G (p.Pro410Arg) | |
15 | g.98913046C>T | CA7752155 | IGF1R | c.1592C>T (p.Pro531Leu) n.499C>T n.1592C>T c.1655C>T (p.Pro552Leu) c.683C>T (p.Pro228Leu) c.257C>T (p.Pro86Leu) c.1667C>T (p.Pro556Leu) c.1229C>T (p.Pro410Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.98913046_98913047delinsTT | CA645591814 | IGF1R | c.1592_1593delinsTT (p.Pro531Leu) n.499_500delinsTT n.1592_1593delinsTT c.1655_1656delinsTT (p.Pro552Leu) c.683_684delinsTT (p.Pro228Leu) c.257_258delinsTT (p.Pro86Leu) c.1667_1668delinsTT (p.Pro556Leu) c.1229_1230delinsTT (p.Pro410Leu) | COSMIC |
15 | g.98913047C>A | CA492682372 | IGF1R | c.1593C>A (p.Pro531=) n.500C>A n.1593C>A c.1656C>A (p.Pro552=) c.684C>A (p.Pro228=) c.258C>A (p.Pro86=) c.1668C>A (p.Pro556=) c.1230C>A (p.Pro410=) | gnomAD v4 |
15 | g.98913047C>G | CA492682373 | IGF1R | c.1593C>G (p.Pro531=) n.500C>G n.1593C>G c.1656C>G (p.Pro552=) c.684C>G (p.Pro228=) c.258C>G (p.Pro86=) c.1668C>G (p.Pro556=) c.1230C>G (p.Pro410=) | gnomAD v4 |
15 | g.98913047C>T | CA492682374 | IGF1R | c.1593C>T (p.Pro531=) n.500C>T n.1593C>T c.1656C>T (p.Pro552=) c.684C>T (p.Pro228=) c.258C>T (p.Pro86=) c.1668C>T (p.Pro556=) c.1230C>T (p.Pro410=) | dbSNP gnomAD v4 |
15 | g.98913048T>A | CA393678744 | IGF1R | c.1594T>A (p.Phe532Ile) n.501T>A n.1594T>A c.1657T>A (p.Phe553Ile) c.685T>A (p.Phe229Ile) c.259T>A (p.Phe87Ile) c.1669T>A (p.Phe557Ile) c.1231T>A (p.Phe411Ile) | |
15 | g.98913048T>C | CA393678746 | IGF1R | c.1594T>C (p.Phe532Leu) n.501T>C n.1594T>C c.1657T>C (p.Phe553Leu) c.685T>C (p.Phe229Leu) c.259T>C (p.Phe87Leu) c.1669T>C (p.Phe557Leu) c.1231T>C (p.Phe411Leu) | |
15 | g.98913048T>G | CA393678747 | IGF1R | c.1594T>G (p.Phe532Val) n.501T>G n.1594T>G c.1657T>G (p.Phe553Val) c.685T>G (p.Phe229Val) c.259T>G (p.Phe87Val) c.1669T>G (p.Phe557Val) c.1231T>G (p.Phe411Val) | |
15 | g.98913049T>A | CA393678748 | IGF1R | c.1595T>A (p.Phe532Tyr) n.502T>A n.1595T>A c.1658T>A (p.Phe553Tyr) c.686T>A (p.Phe229Tyr) c.260T>A (p.Phe87Tyr) c.1670T>A (p.Phe557Tyr) c.1232T>A (p.Phe411Tyr) | |
15 | g.98913049T>C | CA393678750 | IGF1R | c.1595T>C (p.Phe532Ser) n.502T>C n.1595T>C c.1658T>C (p.Phe553Ser) c.686T>C (p.Phe229Ser) c.260T>C (p.Phe87Ser) c.1670T>C (p.Phe557Ser) c.1232T>C (p.Phe411Ser) | |
15 | g.98913049T>G | CA393678751 | IGF1R | c.1595T>G (p.Phe532Cys) n.502T>G n.1595T>G c.1658T>G (p.Phe553Cys) c.686T>G (p.Phe229Cys) c.260T>G (p.Phe87Cys) c.1670T>G (p.Phe557Cys) c.1232T>G (p.Phe411Cys) | |
15 | g.98913050T>A | CA393678752 | IGF1R | c.1596T>A (p.Phe532Leu) n.503T>A n.1596T>A c.1659T>A (p.Phe553Leu) c.687T>A (p.Phe229Leu) c.261T>A (p.Phe87Leu) c.1671T>A (p.Phe557Leu) c.1233T>A (p.Phe411Leu) | |
15 | g.98913050T>C | CA492682375 | IGF1R | c.1596T>C (p.Phe532=) n.503T>C n.1596T>C c.1659T>C (p.Phe553=) c.687T>C (p.Phe229=) c.261T>C (p.Phe87=) c.1671T>C (p.Phe557=) c.1233T>C (p.Phe411=) | |
15 | g.98913050T>G | CA393678753 | IGF1R | c.1596T>G (p.Phe532Leu) n.503T>G n.1596T>G c.1659T>G (p.Phe553Leu) c.687T>G (p.Phe229Leu) c.261T>G (p.Phe87Leu) c.1671T>G (p.Phe557Leu) c.1233T>G (p.Phe411Leu) | |
15 | g.98913051A= | CA2199287615 | IGF1R | c.1597A= (p.Lys533=) n.504A= n.1597A= c.1660A= (p.Lys554=) c.688A= (p.Lys230=) c.262A= (p.Lys88=) c.1672A= (p.Lys558=) c.1234A= (p.Lys412=) | |
15 | g.98913051A>C | CA393678755 | IGF1R | c.1597A>C (p.Lys533Gln) n.504A>C n.1597A>C c.1660A>C (p.Lys554Gln) c.688A>C (p.Lys230Gln) c.262A>C (p.Lys88Gln) c.1672A>C (p.Lys558Gln) c.1234A>C (p.Lys412Gln) | |
15 | g.98913051A>G | CA393678756 | IGF1R | c.1597A>G (p.Lys533Glu) n.504A>G n.1597A>G c.1660A>G (p.Lys554Glu) c.688A>G (p.Lys230Glu) c.262A>G (p.Lys88Glu) c.1672A>G (p.Lys558Glu) c.1234A>G (p.Lys412Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913051A>T | CA393678757 | IGF1R | c.1597A>T (p.Lys533Ter) n.504A>T n.1597A>T c.1660A>T (p.Lys554Ter) c.688A>T (p.Lys230Ter) c.262A>T (p.Lys88Ter) c.1672A>T (p.Lys558Ter) c.1234A>T (p.Lys412Ter) | |
15 | g.98913052dup | CA2630564588 | IGF1R | c.1598dup (p.Asn534GlufsTer6) n.505dup n.1598dup c.1661dup (p.Asn555GlufsTer6) c.689dup (p.Asn231GlufsTer6) c.263dup (p.Asn89GlufsTer6) c.1673dup (p.Asn559GlufsTer6) c.1235dup (p.Asn413GlufsTer6) | gnomAD v4 |
15 | g.98913052A>C | CA393678758 | IGF1R | c.1598A>C (p.Lys533Thr) n.505A>C n.1598A>C c.1661A>C (p.Lys554Thr) c.689A>C (p.Lys230Thr) c.263A>C (p.Lys88Thr) c.1673A>C (p.Lys558Thr) c.1235A>C (p.Lys412Thr) | |
15 | g.98913052A>G | CA393678759 | IGF1R | c.1598A>G (p.Lys533Arg) n.505A>G n.1598A>G c.1661A>G (p.Lys554Arg) c.689A>G (p.Lys230Arg) c.263A>G (p.Lys88Arg) c.1673A>G (p.Lys558Arg) c.1235A>G (p.Lys412Arg) | |
15 | g.98913052A>T | CA393678761 | IGF1R | c.1598A>T (p.Lys533Met) n.505A>T n.1598A>T c.1661A>T (p.Lys554Met) c.689A>T (p.Lys230Met) c.263A>T (p.Lys88Met) c.1673A>T (p.Lys558Met) c.1235A>T (p.Lys412Met) | |
15 | g.98913053G>A | CA492682376 | IGF1R | c.1599G>A (p.Lys533=) n.506G>A n.1599G>A c.1662G>A (p.Lys554=) c.690G>A (p.Lys230=) c.264G>A (p.Lys88=) c.1674G>A (p.Lys558=) c.1236G>A (p.Lys412=) | |
15 | g.98913053G>C | CA393678763 | IGF1R | c.1599G>C (p.Lys533Asn) n.506G>C n.1599G>C c.1662G>C (p.Lys554Asn) c.690G>C (p.Lys230Asn) c.264G>C (p.Lys88Asn) c.1674G>C (p.Lys558Asn) c.1236G>C (p.Lys412Asn) | |
15 | g.98913053G>T | CA393678765 | IGF1R | c.1599G>T (p.Lys533Asn) n.506G>T n.1599G>T c.1662G>T (p.Lys554Asn) c.690G>T (p.Lys230Asn) c.264G>T (p.Lys88Asn) c.1674G>T (p.Lys558Asn) c.1236G>T (p.Lys412Asn) | |
15 | g.98913054A= | CA2199287622 | IGF1R | c.1600A= (p.Asn534=) n.507A= n.1600A= c.1663A= (p.Asn555=) c.691A= (p.Asn231=) c.265A= (p.Asn89=) c.1675A= (p.Asn559=) c.1237A= (p.Asn413=) | |
15 | g.98913054A>C | CA393678767 | IGF1R | c.1600A>C (p.Asn534His) n.507A>C n.1600A>C c.1663A>C (p.Asn555His) c.691A>C (p.Asn231His) c.265A>C (p.Asn89His) c.1675A>C (p.Asn559His) c.1237A>C (p.Asn413His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913054A>G | CA393678768 | IGF1R | c.1600A>G (p.Asn534Asp) n.507A>G n.1600A>G c.1663A>G (p.Asn555Asp) c.691A>G (p.Asn231Asp) c.265A>G (p.Asn89Asp) c.1675A>G (p.Asn559Asp) c.1237A>G (p.Asn413Asp) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.98913054A>T | CA393678770 | IGF1R | c.1600A>T (p.Asn534Tyr) n.507A>T n.1600A>T c.1663A>T (p.Asn555Tyr) c.691A>T (p.Asn231Tyr) c.265A>T (p.Asn89Tyr) c.1675A>T (p.Asn559Tyr) c.1237A>T (p.Asn413Tyr) | |
15 | g.98913055A>C | CA393678772 | IGF1R | c.1601A>C (p.Asn534Thr) n.508A>C n.1601A>C c.1664A>C (p.Asn555Thr) c.692A>C (p.Asn231Thr) c.266A>C (p.Asn89Thr) c.1676A>C (p.Asn559Thr) c.1238A>C (p.Asn413Thr) | |
15 | g.98913055A>G | CA393678774 | IGF1R | c.1601A>G (p.Asn534Ser) n.508A>G n.1601A>G c.1664A>G (p.Asn555Ser) c.692A>G (p.Asn231Ser) c.266A>G (p.Asn89Ser) c.1676A>G (p.Asn559Ser) c.1238A>G (p.Asn413Ser) | |
15 | g.98913055A>T | CA393678776 | IGF1R | c.1601A>T (p.Asn534Ile) n.508A>T n.1601A>T c.1664A>T (p.Asn555Ile) c.692A>T (p.Asn231Ile) c.266A>T (p.Asn89Ile) c.1676A>T (p.Asn559Ile) c.1238A>T (p.Asn413Ile) | |
15 | g.98913056T>A | CA393678777 | IGF1R | c.1602T>A (p.Asn534Lys) n.509T>A n.1602T>A c.1665T>A (p.Asn555Lys) c.693T>A (p.Asn231Lys) c.267T>A (p.Asn89Lys) c.1677T>A (p.Asn559Lys) c.1239T>A (p.Asn413Lys) | |
15 | g.98913056T>C | CA492682380 | IGF1R | c.1602T>C (p.Asn534=) n.509T>C n.1602T>C c.1665T>C (p.Asn555=) c.693T>C (p.Asn231=) c.267T>C (p.Asn89=) c.1677T>C (p.Asn559=) c.1239T>C (p.Asn413=) | gnomAD v4 |
15 | g.98913056T>G | CA393678778 | IGF1R | c.1602T>G (p.Asn534Lys) n.509T>G n.1602T>G c.1665T>G (p.Asn555Lys) c.693T>G (p.Asn231Lys) c.267T>G (p.Asn89Lys) c.1677T>G (p.Asn559Lys) c.1239T>G (p.Asn413Lys) | |
15 | g.98913057G>A | CA393678781 | IGF1R | c.1603G>A (p.Val535Ile) n.510G>A n.1603G>A c.1666G>A (p.Val556Ile) c.694G>A (p.Val232Ile) c.268G>A (p.Val90Ile) c.1678G>A (p.Val560Ile) c.1240G>A (p.Val414Ile) | |
15 | g.98913057G>C | CA393678783 | IGF1R | c.1603G>C (p.Val535Leu) n.510G>C n.1603G>C c.1666G>C (p.Val556Leu) c.694G>C (p.Val232Leu) c.268G>C (p.Val90Leu) c.1678G>C (p.Val560Leu) c.1240G>C (p.Val414Leu) | |
15 | g.98913057G>T | CA393678786 | IGF1R | c.1603G>T (p.Val535Phe) n.510G>T n.1603G>T c.1666G>T (p.Val556Phe) c.694G>T (p.Val232Phe) c.268G>T (p.Val90Phe) c.1678G>T (p.Val560Phe) c.1240G>T (p.Val414Phe) | |
15 | g.98913058T>A | CA393678788 | IGF1R | c.1604T>A (p.Val535Asp) n.511T>A n.1604T>A c.1667T>A (p.Val556Asp) c.695T>A (p.Val232Asp) c.269T>A (p.Val90Asp) c.1679T>A (p.Val560Asp) c.1241T>A (p.Val414Asp) | |
15 | g.98913058T>C | CA393678790 | IGF1R | c.1604T>C (p.Val535Ala) n.511T>C n.1604T>C c.1667T>C (p.Val556Ala) c.695T>C (p.Val232Ala) c.269T>C (p.Val90Ala) c.1679T>C (p.Val560Ala) c.1241T>C (p.Val414Ala) | |
15 | g.98913058T>G | CA393678792 | IGF1R | c.1604T>G (p.Val535Gly) n.511T>G n.1604T>G c.1667T>G (p.Val556Gly) c.695T>G (p.Val232Gly) c.269T>G (p.Val90Gly) c.1679T>G (p.Val560Gly) c.1241T>G (p.Val414Gly) | |
15 | g.98913059C>A | CA492682384 | IGF1R | c.1605C>A (p.Val535=) n.512C>A n.1605C>A c.1668C>A (p.Val556=) c.696C>A (p.Val232=) c.270C>A (p.Val90=) c.1680C>A (p.Val560=) c.1242C>A (p.Val414=) | gnomAD v4 |
15 | g.98913059C>G | CA492682386 | IGF1R | c.1605C>G (p.Val535=) n.512C>G n.1605C>G c.1668C>G (p.Val556=) c.696C>G (p.Val232=) c.270C>G (p.Val90=) c.1680C>G (p.Val560=) c.1242C>G (p.Val414=) | |
15 | g.98913059C>T | CA492682388 | IGF1R | c.1605C>T (p.Val535=) n.512C>T n.1605C>T c.1668C>T (p.Val556=) c.696C>T (p.Val232=) c.270C>T (p.Val90=) c.1680C>T (p.Val560=) c.1242C>T (p.Val414=) | |
15 | g.98913061_98913062del | CA2630564589 | IGF1R | c.1607_1608del (p.Thr536ArgfsTer3) n.514_515del n.1607_1608del c.1670_1671del (p.Thr557ArgfsTer3) c.698_699del (p.Thr233ArgfsTer3) c.272_273del (p.Thr91ArgfsTer3) c.1682_1683del (p.Thr561ArgfsTer3) c.1244_1245del (p.Thr415ArgfsTer3) | gnomAD v4 |
15 | g.98913060A>C | CA393678794 | IGF1R | c.1606A>C (p.Thr536Pro) n.513A>C n.1606A>C c.1669A>C (p.Thr557Pro) c.697A>C (p.Thr233Pro) c.271A>C (p.Thr91Pro) c.1681A>C (p.Thr561Pro) c.1243A>C (p.Thr415Pro) | |
15 | g.98913060A>G | CA393678795 | IGF1R | c.1606A>G (p.Thr536Ala) n.513A>G n.1606A>G c.1669A>G (p.Thr557Ala) c.697A>G (p.Thr233Ala) c.271A>G (p.Thr91Ala) c.1681A>G (p.Thr561Ala) c.1243A>G (p.Thr415Ala) | |
15 | g.98913060A>T | CA393678797 | IGF1R | c.1606A>T (p.Thr536Ser) n.513A>T n.1606A>T c.1669A>T (p.Thr557Ser) c.697A>T (p.Thr233Ser) c.271A>T (p.Thr91Ser) c.1681A>T (p.Thr561Ser) c.1243A>T (p.Thr415Ser) | |
15 | g.98913061C>A | CA393678800 | IGF1R | c.1607C>A (p.Thr536Lys) n.514C>A n.1607C>A c.1670C>A (p.Thr557Lys) c.698C>A (p.Thr233Lys) c.272C>A (p.Thr91Lys) c.1682C>A (p.Thr561Lys) c.1244C>A (p.Thr415Lys) | |
15 | g.98913061C>G | CA393678801 | IGF1R | c.1607C>G (p.Thr536Arg) n.514C>G n.1607C>G c.1670C>G (p.Thr557Arg) c.698C>G (p.Thr233Arg) c.272C>G (p.Thr91Arg) c.1682C>G (p.Thr561Arg) c.1244C>G (p.Thr415Arg) | |
15 | g.98913061C>T | CA393678803 | IGF1R | c.1607C>T (p.Thr536Ile) n.514C>T n.1607C>T c.1670C>T (p.Thr557Ile) c.698C>T (p.Thr233Ile) c.272C>T (p.Thr91Ile) c.1682C>T (p.Thr561Ile) c.1244C>T (p.Thr415Ile) | |
15 | g.98913062A>C | CA492682390 | IGF1R | c.1608A>C (p.Thr536=) n.515A>C n.1608A>C c.1671A>C (p.Thr557=) c.699A>C (p.Thr233=) c.273A>C (p.Thr91=) c.1683A>C (p.Thr561=) c.1245A>C (p.Thr415=) | |
15 | g.98913062A>G | CA492682391 | IGF1R | c.1608A>G (p.Thr536=) n.515A>G n.1608A>G c.1671A>G (p.Thr557=) c.699A>G (p.Thr233=) c.273A>G (p.Thr91=) c.1683A>G (p.Thr561=) c.1245A>G (p.Thr415=) | dbSNP |
15 | g.98913062A>T | CA492682392 | IGF1R | c.1608A>T (p.Thr536=) n.515A>T n.1608A>T c.1671A>T (p.Thr557=) c.699A>T (p.Thr233=) c.273A>T (p.Thr91=) c.1683A>T (p.Thr561=) c.1245A>T (p.Thr415=) | |
15 | g.98913063G>A | CA393678805 | IGF1R | c.1609G>A (p.Glu537Lys) n.516G>A n.1609G>A c.1672G>A (p.Glu558Lys) c.700G>A (p.Glu234Lys) c.274G>A (p.Glu92Lys) c.1684G>A (p.Glu562Lys) c.1246G>A (p.Glu416Lys) | ClinVar dbSNP |
15 | g.98913063G>C | CA393678806 | IGF1R | c.1609G>C (p.Glu537Gln) n.516G>C n.1609G>C c.1672G>C (p.Glu558Gln) c.700G>C (p.Glu234Gln) c.274G>C (p.Glu92Gln) c.1684G>C (p.Glu562Gln) c.1246G>C (p.Glu416Gln) | |
15 | g.98913063G>T | CA393678804 | IGF1R | c.1609G>T (p.Glu537Ter) n.516G>T n.1609G>T c.1672G>T (p.Glu558Ter) c.700G>T (p.Glu234Ter) c.274G>T (p.Glu92Ter) c.1684G>T (p.Glu562Ter) c.1246G>T (p.Glu416Ter) | |
15 | g.98913064A>C | CA393678810 | IGF1R | c.1610A>C (p.Glu537Ala) n.517A>C n.1610A>C c.1673A>C (p.Glu558Ala) c.701A>C (p.Glu234Ala) c.275A>C (p.Glu92Ala) c.1685A>C (p.Glu562Ala) c.1247A>C (p.Glu416Ala) | |
15 | g.98913064A>G | CA393678808 | IGF1R | c.1610A>G (p.Glu537Gly) n.517A>G n.1610A>G c.1673A>G (p.Glu558Gly) c.701A>G (p.Glu234Gly) c.275A>G (p.Glu92Gly) c.1685A>G (p.Glu562Gly) c.1247A>G (p.Glu416Gly) | gnomAD v4 |
15 | g.98913064A>T | CA393678812 | IGF1R | c.1610A>T (p.Glu537Val) n.517A>T n.1610A>T c.1673A>T (p.Glu558Val) c.701A>T (p.Glu234Val) c.275A>T (p.Glu92Val) c.1685A>T (p.Glu562Val) c.1247A>T (p.Glu416Val) | gnomAD v4 |
15 | g.98913065G>A | CA492682393 | IGF1R | c.1611G>A (p.Glu537=) n.518G>A n.1611G>A c.1674G>A (p.Glu558=) c.702G>A (p.Glu234=) c.276G>A (p.Glu92=) c.1686G>A (p.Glu562=) c.1248G>A (p.Glu416=) | |
15 | g.98913065G>C | CA393678813 | IGF1R | c.1611G>C (p.Glu537Asp) n.518G>C n.1611G>C c.1674G>C (p.Glu558Asp) c.702G>C (p.Glu234Asp) c.276G>C (p.Glu92Asp) c.1686G>C (p.Glu562Asp) c.1248G>C (p.Glu416Asp) | |
15 | g.98913065G>T | CA393678815 | IGF1R | c.1611G>T (p.Glu537Asp) n.518G>T n.1611G>T c.1674G>T (p.Glu558Asp) c.702G>T (p.Glu234Asp) c.276G>T (p.Glu92Asp) c.1686G>T (p.Glu562Asp) c.1248G>T (p.Glu416Asp) | |
15 | g.98913066T>A | CA393678817 | IGF1R | c.1612T>A (p.Tyr538Asn) n.519T>A n.1612T>A c.1675T>A (p.Tyr559Asn) c.703T>A (p.Tyr235Asn) c.277T>A (p.Tyr93Asn) c.1687T>A (p.Tyr563Asn) c.1249T>A (p.Tyr417Asn) | |
15 | g.98913066T>C | CA393678818 | IGF1R | c.1612T>C (p.Tyr538His) n.519T>C n.1612T>C c.1675T>C (p.Tyr559His) c.703T>C (p.Tyr235His) c.277T>C (p.Tyr93His) c.1687T>C (p.Tyr563His) c.1249T>C (p.Tyr417His) | |
15 | g.98913066T>G | CA393678820 | IGF1R | c.1612T>G (p.Tyr538Asp) n.519T>G n.1612T>G c.1675T>G (p.Tyr559Asp) c.703T>G (p.Tyr235Asp) c.277T>G (p.Tyr93Asp) c.1687T>G (p.Tyr563Asp) c.1249T>G (p.Tyr417Asp) | |
15 | g.98913067A>C | CA393678823 | IGF1R | c.1613A>C (p.Tyr538Ser) n.520A>C n.1613A>C c.1676A>C (p.Tyr559Ser) c.704A>C (p.Tyr235Ser) c.278A>C (p.Tyr93Ser) c.1688A>C (p.Tyr563Ser) c.1250A>C (p.Tyr417Ser) | |
15 | g.98913067A>G | CA393678825 | IGF1R | c.1613A>G (p.Tyr538Cys) n.520A>G n.1613A>G c.1676A>G (p.Tyr559Cys) c.704A>G (p.Tyr235Cys) c.278A>G (p.Tyr93Cys) c.1688A>G (p.Tyr563Cys) c.1250A>G (p.Tyr417Cys) | |
15 | g.98913067A>T | CA393678827 | IGF1R | c.1613A>T (p.Tyr538Phe) n.520A>T n.1613A>T c.1676A>T (p.Tyr559Phe) c.704A>T (p.Tyr235Phe) c.278A>T (p.Tyr93Phe) c.1688A>T (p.Tyr563Phe) c.1250A>T (p.Tyr417Phe) | |
15 | g.98913068T>A | CA393678828 | IGF1R | c.1614T>A (p.Tyr538Ter) n.521T>A n.1614T>A c.1677T>A (p.Tyr559Ter) c.705T>A (p.Tyr235Ter) c.279T>A (p.Tyr93Ter) c.1689T>A (p.Tyr563Ter) c.1251T>A (p.Tyr417Ter) | |
15 | g.98913068T>C | CA275379307 | IGF1R | c.1614T>C (p.Tyr538=) n.521T>C n.1614T>C c.1677T>C (p.Tyr559=) c.705T>C (p.Tyr235=) c.279T>C (p.Tyr93=) c.1689T>C (p.Tyr563=) c.1251T>C (p.Tyr417=) | dbSNP |
15 | g.98913068T>G | CA393678830 | IGF1R | c.1614T>G (p.Tyr538Ter) n.521T>G n.1614T>G c.1677T>G (p.Tyr559Ter) c.705T>G (p.Tyr235Ter) c.279T>G (p.Tyr93Ter) c.1689T>G (p.Tyr563Ter) c.1251T>G (p.Tyr417Ter) | |
15 | g.98913068T= | CA2199287625 | IGF1R | c.1614T= (p.Tyr538=) n.521T= n.1614T= c.1677T= (p.Tyr559=) c.705T= (p.Tyr235=) c.279T= (p.Tyr93=) c.1689T= (p.Tyr563=) c.1251T= (p.Tyr417=) | |
15 | g.98913069G>A | CA393678832 | IGF1R | c.1615G>A (p.Asp539Asn) n.522G>A n.1615G>A c.1678G>A (p.Asp560Asn) c.706G>A (p.Asp236Asn) c.280G>A (p.Asp94Asn) c.1690G>A (p.Asp564Asn) c.1252G>A (p.Asp418Asn) | gnomAD v4 |
15 | g.98913069G>C | CA393678834 | IGF1R | c.1615G>C (p.Asp539His) n.522G>C n.1615G>C c.1678G>C (p.Asp560His) c.706G>C (p.Asp236His) c.280G>C (p.Asp94His) c.1690G>C (p.Asp564His) c.1252G>C (p.Asp418His) | |
15 | g.98913069G>T | CA393678836 | IGF1R | c.1615G>T (p.Asp539Tyr) n.522G>T n.1615G>T c.1678G>T (p.Asp560Tyr) c.706G>T (p.Asp236Tyr) c.280G>T (p.Asp94Tyr) c.1690G>T (p.Asp564Tyr) c.1252G>T (p.Asp418Tyr) | |
15 | g.98913070A>C | CA393678841 | IGF1R | c.1616A>C (p.Asp539Ala) n.523A>C n.1616A>C c.1679A>C (p.Asp560Ala) c.707A>C (p.Asp236Ala) c.281A>C (p.Asp94Ala) c.1691A>C (p.Asp564Ala) c.1253A>C (p.Asp418Ala) | |
15 | g.98913070A>G | CA393678838 | IGF1R | c.1616A>G (p.Asp539Gly) n.523A>G n.1616A>G c.1679A>G (p.Asp560Gly) c.707A>G (p.Asp236Gly) c.281A>G (p.Asp94Gly) c.1691A>G (p.Asp564Gly) c.1253A>G (p.Asp418Gly) | |
15 | g.98913070A>T | CA393678840 | IGF1R | c.1616A>T (p.Asp539Val) n.523A>T n.1616A>T c.1679A>T (p.Asp560Val) c.707A>T (p.Asp236Val) c.281A>T (p.Asp94Val) c.1691A>T (p.Asp564Val) c.1253A>T (p.Asp418Val) | |
15 | g.98913071T>A | CA393678842 | IGF1R | c.1617T>A (p.Asp539Glu) n.524T>A n.1617T>A c.1680T>A (p.Asp560Glu) c.708T>A (p.Asp236Glu) c.282T>A (p.Asp94Glu) c.1692T>A (p.Asp564Glu) c.1254T>A (p.Asp418Glu) | |
15 | g.98913071T>C | CA492682404 | IGF1R | c.1617T>C (p.Asp539=) n.524T>C n.1617T>C c.1680T>C (p.Asp560=) c.708T>C (p.Asp236=) c.282T>C (p.Asp94=) c.1692T>C (p.Asp564=) c.1254T>C (p.Asp418=) | gnomAD v4 |
15 | g.98913071T>G | CA393678843 | IGF1R | c.1617T>G (p.Asp539Glu) n.524T>G n.1617T>G c.1680T>G (p.Asp560Glu) c.708T>G (p.Asp236Glu) c.282T>G (p.Asp94Glu) c.1692T>G (p.Asp564Glu) c.1254T>G (p.Asp418Glu) | |
15 | g.98913072G>A | CA393678844 | IGF1R | c.1618G>A (p.Gly540Arg) n.525G>A n.1618G>A c.1681G>A (p.Gly561Arg) c.709G>A (p.Gly237Arg) c.283G>A (p.Gly95Arg) c.1693G>A (p.Gly565Arg) c.1255G>A (p.Gly419Arg) | |
15 | g.98913072G>C | CA393678845 | IGF1R | c.1618G>C (p.Gly540Arg) n.525G>C n.1618G>C c.1681G>C (p.Gly561Arg) c.709G>C (p.Gly237Arg) c.283G>C (p.Gly95Arg) c.1693G>C (p.Gly565Arg) c.1255G>C (p.Gly419Arg) | |
15 | g.98913072G>T | CA393678846 | IGF1R | c.1618G>T (p.Gly540Trp) n.525G>T n.1618G>T c.1681G>T (p.Gly561Trp) c.709G>T (p.Gly237Trp) c.283G>T (p.Gly95Trp) c.1693G>T (p.Gly565Trp) c.1255G>T (p.Gly419Trp) | |
15 | g.98913074del | CA2534232194 | IGF1R | c.1620del (p.Gln541ArgfsTer?) n.527del n.1620del c.1683del (p.Gln562ArgfsTer?) c.711del (p.Gln238ArgfsTer?) c.285del (p.Gln96ArgfsTer?) c.1695del (p.Gln566ArgfsTer?) c.1257del (p.Gln420ArgfsTer?) | |
15 | g.98913073G>A | CA393678847 | IGF1R | c.1619G>A (p.Gly540Glu) n.526G>A n.1619G>A c.1682G>A (p.Gly561Glu) c.710G>A (p.Gly237Glu) c.284G>A (p.Gly95Glu) c.1694G>A (p.Gly565Glu) c.1256G>A (p.Gly419Glu) | |
15 | g.98913073G>C | CA393678848 | IGF1R | c.1619G>C (p.Gly540Ala) n.526G>C n.1619G>C c.1682G>C (p.Gly561Ala) c.710G>C (p.Gly237Ala) c.284G>C (p.Gly95Ala) c.1694G>C (p.Gly565Ala) c.1256G>C (p.Gly419Ala) | |
15 | g.98913073G>T | CA393678849 | IGF1R | c.1619G>T (p.Gly540Val) n.526G>T n.1619G>T c.1682G>T (p.Gly561Val) c.710G>T (p.Gly237Val) c.284G>T (p.Gly95Val) c.1694G>T (p.Gly565Val) c.1256G>T (p.Gly419Val) | gnomAD v4 |
15 | g.98913074G>A | CA492682409 | IGF1R | c.1620G>A (p.Gly540=) n.527G>A n.1620G>A c.1683G>A (p.Gly561=) c.711G>A (p.Gly237=) c.285G>A (p.Gly95=) c.1695G>A (p.Gly565=) c.1257G>A (p.Gly419=) | gnomAD v4 |
15 | g.98913074G>C | CA492682410 | IGF1R | c.1620G>C (p.Gly540=) n.527G>C n.1620G>C c.1683G>C (p.Gly561=) c.711G>C (p.Gly237=) c.285G>C (p.Gly95=) c.1695G>C (p.Gly565=) c.1257G>C (p.Gly419=) | |
15 | g.98913074G>T | CA492682412 | IGF1R | c.1620G>T (p.Gly540=) n.527G>T n.1620G>T c.1683G>T (p.Gly561=) c.711G>T (p.Gly237=) c.285G>T (p.Gly95=) c.1695G>T (p.Gly565=) c.1257G>T (p.Gly419=) | |
15 | g.98913075C>A | CA393678850 | IGF1R | c.1621C>A (p.Gln541Lys) n.528C>A n.1621C>A c.1684C>A (p.Gln562Lys) c.712C>A (p.Gln238Lys) c.286C>A (p.Gln96Lys) c.1696C>A (p.Gln566Lys) c.1258C>A (p.Gln420Lys) | |
15 | g.98913075C>G | CA393678851 | IGF1R | c.1621C>G (p.Gln541Glu) n.528C>G n.1621C>G c.1684C>G (p.Gln562Glu) c.712C>G (p.Gln238Glu) c.286C>G (p.Gln96Glu) c.1696C>G (p.Gln566Glu) c.1258C>G (p.Gln420Glu) | |
15 | g.98913075C>T | CA393678852 | IGF1R | c.1621C>T (p.Gln541Ter) n.528C>T n.1621C>T c.1684C>T (p.Gln562Ter) c.712C>T (p.Gln238Ter) c.286C>T (p.Gln96Ter) c.1696C>T (p.Gln566Ter) c.1258C>T (p.Gln420Ter) | |
15 | g.98913076A>C | CA393678855 | IGF1R | c.1622A>C (p.Gln541Pro) n.529A>C n.1622A>C c.1685A>C (p.Gln562Pro) c.713A>C (p.Gln238Pro) c.287A>C (p.Gln96Pro) c.1697A>C (p.Gln566Pro) c.1259A>C (p.Gln420Pro) | |
15 | g.98913076A>G | CA393678854 | IGF1R | c.1622A>G (p.Gln541Arg) n.529A>G n.1622A>G c.1685A>G (p.Gln562Arg) c.713A>G (p.Gln238Arg) c.287A>G (p.Gln96Arg) c.1697A>G (p.Gln566Arg) c.1259A>G (p.Gln420Arg) | |
15 | g.98913076A>T | CA393678853 | IGF1R | c.1622A>T (p.Gln541Leu) n.529A>T n.1622A>T c.1685A>T (p.Gln562Leu) c.713A>T (p.Gln238Leu) c.287A>T (p.Gln96Leu) c.1697A>T (p.Gln566Leu) c.1259A>T (p.Gln420Leu) | |
15 | g.98913077G>A | CA492682421 | IGF1R | c.1623G>A (p.Gln541=) n.530G>A n.1623G>A c.1686G>A (p.Gln562=) c.714G>A (p.Gln238=) c.288G>A (p.Gln96=) c.1698G>A (p.Gln566=) c.1260G>A (p.Gln420=) | |
15 | g.98913077G>C | CA393678856 | IGF1R | c.1623G>C (p.Gln541His) n.530G>C n.1623G>C c.1686G>C (p.Gln562His) c.714G>C (p.Gln238His) c.288G>C (p.Gln96His) c.1698G>C (p.Gln566His) c.1260G>C (p.Gln420His) | |
15 | g.98913077G>T | CA393678857 | IGF1R | c.1623G>T (p.Gln541His) n.530G>T n.1623G>T c.1686G>T (p.Gln562His) c.714G>T (p.Gln238His) c.288G>T (p.Gln96His) c.1698G>T (p.Gln566His) c.1260G>T (p.Gln420His) | |
15 | g.98913078G>A | CA393678858 | IGF1R | c.1624G>A (p.Asp542Asn) n.531G>A n.1624G>A c.1687G>A (p.Asp563Asn) c.715G>A (p.Asp239Asn) c.289G>A (p.Asp97Asn) c.1699G>A (p.Asp567Asn) c.1261G>A (p.Asp421Asn) | |
15 | g.98913078G>C | CA393678859 | IGF1R | c.1624G>C (p.Asp542His) n.531G>C n.1624G>C c.1687G>C (p.Asp563His) c.715G>C (p.Asp239His) c.289G>C (p.Asp97His) c.1699G>C (p.Asp567His) c.1261G>C (p.Asp421His) | |
15 | g.98913078G>T | CA393678860 | IGF1R | c.1624G>T (p.Asp542Tyr) n.531G>T n.1624G>T c.1687G>T (p.Asp563Tyr) c.715G>T (p.Asp239Tyr) c.289G>T (p.Asp97Tyr) c.1699G>T (p.Asp567Tyr) c.1261G>T (p.Asp421Tyr) | |
15 | g.98913079A= | CA2199287629 | IGF1R | c.1625A= (p.Asp542=) n.532A= n.1625A= c.1688A= (p.Asp563=) c.716A= (p.Asp239=) c.290A= (p.Asp97=) c.1700A= (p.Asp567=) c.1262A= (p.Asp421=) | |
15 | g.98913079A>C | CA393678861 | IGF1R | c.1625A>C (p.Asp542Ala) n.532A>C n.1625A>C c.1688A>C (p.Asp563Ala) c.716A>C (p.Asp239Ala) c.290A>C (p.Asp97Ala) c.1700A>C (p.Asp567Ala) c.1262A>C (p.Asp421Ala) | |
15 | g.98913079A>G | CA275379311 | IGF1R | c.1625A>G (p.Asp542Gly) n.532A>G n.1625A>G c.1688A>G (p.Asp563Gly) c.716A>G (p.Asp239Gly) c.290A>G (p.Asp97Gly) c.1700A>G (p.Asp567Gly) c.1262A>G (p.Asp421Gly) | dbSNP gnomAD v2 |
15 | g.98913079A>T | CA393678862 | IGF1R | c.1625A>T (p.Asp542Val) n.532A>T n.1625A>T c.1688A>T (p.Asp563Val) c.716A>T (p.Asp239Val) c.290A>T (p.Asp97Val) c.1700A>T (p.Asp567Val) c.1262A>T (p.Asp421Val) | |
15 | g.98913080T>A | CA393678863 | IGF1R | c.1626T>A (p.Asp542Glu) n.533T>A n.1626T>A c.1689T>A (p.Asp563Glu) c.717T>A (p.Asp239Glu) c.291T>A (p.Asp97Glu) c.1701T>A (p.Asp567Glu) c.1263T>A (p.Asp421Glu) | |
15 | g.98913080T>C | CA492682425 | IGF1R | c.1626T>C (p.Asp542=) n.533T>C n.1626T>C c.1689T>C (p.Asp563=) c.717T>C (p.Asp239=) c.291T>C (p.Asp97=) c.1701T>C (p.Asp567=) c.1263T>C (p.Asp421=) | dbSNP |
15 | g.98913080T>G | CA393678864 | IGF1R | c.1626T>G (p.Asp542Glu) n.533T>G n.1626T>G c.1689T>G (p.Asp563Glu) c.717T>G (p.Asp239Glu) c.291T>G (p.Asp97Glu) c.1701T>G (p.Asp567Glu) c.1263T>G (p.Asp421Glu) | |
15 | g.98913081G>A | CA393678865 | IGF1R | c.1627G>A (p.Ala543Thr) n.534G>A n.1627G>A c.1690G>A (p.Ala564Thr) c.718G>A (p.Ala240Thr) c.292G>A (p.Ala98Thr) c.1702G>A (p.Ala568Thr) c.1264G>A (p.Ala422Thr) | dbSNP |
15 | g.98913081G>C | CA393678866 | IGF1R | c.1627G>C (p.Ala543Pro) n.534G>C n.1627G>C c.1690G>C (p.Ala564Pro) c.718G>C (p.Ala240Pro) c.292G>C (p.Ala98Pro) c.1702G>C (p.Ala568Pro) c.1264G>C (p.Ala422Pro) | |
15 | g.98913081G>T | CA393678867 | IGF1R | c.1627G>T (p.Ala543Ser) n.534G>T n.1627G>T c.1690G>T (p.Ala564Ser) c.718G>T (p.Ala240Ser) c.292G>T (p.Ala98Ser) c.1702G>T (p.Ala568Ser) c.1264G>T (p.Ala422Ser) | |
15 | g.98913082C>A | CA393678870 | IGF1R | c.1628C>A (p.Ala543Asp) n.535C>A n.1628C>A c.1691C>A (p.Ala564Asp) c.719C>A (p.Ala240Asp) c.293C>A (p.Ala98Asp) c.1703C>A (p.Ala568Asp) c.1265C>A (p.Ala422Asp) | |
15 | g.98913082C>G | CA393678868 | IGF1R | c.1628C>G (p.Ala543Gly) n.535C>G n.1628C>G c.1691C>G (p.Ala564Gly) c.719C>G (p.Ala240Gly) c.293C>G (p.Ala98Gly) c.1703C>G (p.Ala568Gly) c.1265C>G (p.Ala422Gly) | |
15 | g.98913082C>T | CA393678869 | IGF1R | c.1628C>T (p.Ala543Val) n.535C>T n.1628C>T c.1691C>T (p.Ala564Val) c.719C>T (p.Ala240Val) c.293C>T (p.Ala98Val) c.1703C>T (p.Ala568Val) c.1265C>T (p.Ala422Val) | dbSNP |
15 | g.98913083C>A | CA492682429 | IGF1R | c.1629C>A (p.Ala543=) n.536C>A n.1629C>A c.1692C>A (p.Ala564=) c.720C>A (p.Ala240=) c.294C>A (p.Ala98=) c.1704C>A (p.Ala568=) c.1266C>A (p.Ala422=) | |
15 | g.98913083C= | CA2199287630 | IGF1R | c.1629C= (p.Ala543=) n.536C= n.1629C= c.1692C= (p.Ala564=) c.720C= (p.Ala240=) c.294C= (p.Ala98=) c.1704C= (p.Ala568=) c.1266C= (p.Ala422=) | |
15 | g.98913083C>G | CA492682431 | IGF1R | c.1629C>G (p.Ala543=) n.536C>G n.1629C>G c.1692C>G (p.Ala564=) c.720C>G (p.Ala240=) c.294C>G (p.Ala98=) c.1704C>G (p.Ala568=) c.1266C>G (p.Ala422=) | dbSNP |
15 | g.98913083C>T | CA492682434 | IGF1R | c.1629C>T (p.Ala543=) n.536C>T n.1629C>T c.1692C>T (p.Ala564=) c.720C>T (p.Ala240=) c.294C>T (p.Ala98=) c.1704C>T (p.Ala568=) c.1266C>T (p.Ala422=) | |
15 | g.98913084T>A | CA393678871 | IGF1R | c.1630T>A (p.Cys544Ser) n.537T>A n.1630T>A c.1693T>A (p.Cys565Ser) c.721T>A (p.Cys241Ser) c.295T>A (p.Cys99Ser) c.1705T>A (p.Cys569Ser) c.1267T>A (p.Cys423Ser) | |
15 | g.98913084T>C | CA393678872 | IGF1R | c.1630T>C (p.Cys544Arg) n.537T>C n.1630T>C c.1693T>C (p.Cys565Arg) c.721T>C (p.Cys241Arg) c.295T>C (p.Cys99Arg) c.1705T>C (p.Cys569Arg) c.1267T>C (p.Cys423Arg) | dbSNP |
15 | g.98913084T>G | CA393678873 | IGF1R | c.1630T>G (p.Cys544Gly) n.537T>G n.1630T>G c.1693T>G (p.Cys565Gly) c.721T>G (p.Cys241Gly) c.295T>G (p.Cys99Gly) c.1705T>G (p.Cys569Gly) c.1267T>G (p.Cys423Gly) | |
15 | g.98913085G>A | CA393678874 | IGF1R | c.1631G>A (p.Cys544Tyr) n.538G>A n.1631G>A c.1694G>A (p.Cys565Tyr) c.722G>A (p.Cys241Tyr) c.296G>A (p.Cys99Tyr) c.1706G>A (p.Cys569Tyr) c.1268G>A (p.Cys423Tyr) | |
15 | g.98913085G>C | CA393678875 | IGF1R | c.1631G>C (p.Cys544Ser) n.538G>C n.1631G>C c.1694G>C (p.Cys565Ser) c.722G>C (p.Cys241Ser) c.296G>C (p.Cys99Ser) c.1706G>C (p.Cys569Ser) c.1268G>C (p.Cys423Ser) | dbSNP |
15 | g.98913085G= | CA2199287633 | IGF1R | c.1631G= (p.Cys544=) n.538G= n.1631G= c.1694G= (p.Cys565=) c.722G= (p.Cys241=) c.296G= (p.Cys99=) c.1706G= (p.Cys569=) c.1268G= (p.Cys423=) | |
15 | g.98913085G>T | CA393678876 | IGF1R | c.1631G>T (p.Cys544Phe) n.538G>T n.1631G>T c.1694G>T (p.Cys565Phe) c.722G>T (p.Cys241Phe) c.296G>T (p.Cys99Phe) c.1706G>T (p.Cys569Phe) c.1268G>T (p.Cys423Phe) | |
15 | g.98913086C>A | CA393678877 | IGF1R | c.1632C>A (p.Cys544Ter) n.539C>A n.1632C>A c.1695C>A (p.Cys565Ter) c.723C>A (p.Cys241Ter) c.297C>A (p.Cys99Ter) c.1707C>A (p.Cys569Ter) c.1269C>A (p.Cys423Ter) | dbSNP gnomAD v2 |
15 | g.98913086C= | CA2199287634 | IGF1R | c.1632C= (p.Cys544=) n.539C= n.1632C= c.1695C= (p.Cys565=) c.723C= (p.Cys241=) c.297C= (p.Cys99=) c.1707C= (p.Cys569=) c.1269C= (p.Cys423=) | |
15 | g.98913086C>G | CA393678878 | IGF1R | c.1632C>G (p.Cys544Trp) n.539C>G n.1632C>G c.1695C>G (p.Cys565Trp) c.723C>G (p.Cys241Trp) c.297C>G (p.Cys99Trp) c.1707C>G (p.Cys569Trp) c.1269C>G (p.Cys423Trp) | |
15 | g.98913086C>T | CA7752156 | IGF1R | c.1632C>T (p.Cys544=) n.539C>T n.1632C>T c.1695C>T (p.Cys565=) c.723C>T (p.Cys241=) c.297C>T (p.Cys99=) c.1707C>T (p.Cys569=) c.1269C>T (p.Cys423=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913087G>A | CA7752157 | IGF1R | c.1633G>A (p.Gly545Ser) n.540G>A n.1633G>A c.1696G>A (p.Gly566Ser) c.724G>A (p.Gly242Ser) c.298G>A (p.Gly100Ser) c.1708G>A (p.Gly570Ser) c.1270G>A (p.Gly424Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913087G>C | CA393678879 | IGF1R | c.1633G>C (p.Gly545Arg) n.540G>C n.1633G>C c.1696G>C (p.Gly566Arg) c.724G>C (p.Gly242Arg) c.298G>C (p.Gly100Arg) c.1708G>C (p.Gly570Arg) c.1270G>C (p.Gly424Arg) | |
15 | g.98913087G= | CA2199287636 | IGF1R | c.1633G= (p.Gly545=) n.540G= n.1633G= c.1696G= (p.Gly566=) c.724G= (p.Gly242=) c.298G= (p.Gly100=) c.1708G= (p.Gly570=) c.1270G= (p.Gly424=) | |
15 | g.98913087G>T | CA393678880 | IGF1R | c.1633G>T (p.Gly545Cys) n.540G>T n.1633G>T c.1696G>T (p.Gly566Cys) c.724G>T (p.Gly242Cys) c.298G>T (p.Gly100Cys) c.1708G>T (p.Gly570Cys) c.1270G>T (p.Gly424Cys) | |
15 | g.98913088G>A | CA393678883 | IGF1R | c.1634G>A (p.Gly545Asp) n.541G>A n.1634G>A c.1697G>A (p.Gly566Asp) c.725G>A (p.Gly242Asp) c.299G>A (p.Gly100Asp) c.1709G>A (p.Gly570Asp) c.1271G>A (p.Gly424Asp) | |
15 | g.98913088G>C | CA393678882 | IGF1R | c.1634G>C (p.Gly545Ala) n.541G>C n.1634G>C c.1697G>C (p.Gly566Ala) c.725G>C (p.Gly242Ala) c.299G>C (p.Gly100Ala) c.1709G>C (p.Gly570Ala) c.1271G>C (p.Gly424Ala) | |
15 | g.98913088G>T | CA393678881 | IGF1R | c.1634G>T (p.Gly545Val) n.541G>T n.1634G>T c.1697G>T (p.Gly566Val) c.725G>T (p.Gly242Val) c.299G>T (p.Gly100Val) c.1709G>T (p.Gly570Val) c.1271G>T (p.Gly424Val) | gnomAD v4 |
15 | g.98913089C>A | CA492682444 | IGF1R | c.1635C>A (p.Gly545=) n.542C>A n.1635C>A c.1698C>A (p.Gly566=) c.726C>A (p.Gly242=) c.300C>A (p.Gly100=) c.1710C>A (p.Gly570=) c.1272C>A (p.Gly424=) | |
15 | g.98913089C>G | CA492682445 | IGF1R | c.1635C>G (p.Gly545=) n.542C>G n.1635C>G c.1698C>G (p.Gly566=) c.726C>G (p.Gly242=) c.300C>G (p.Gly100=) c.1710C>G (p.Gly570=) c.1272C>G (p.Gly424=) | dbSNP |
15 | g.98913089C>T | CA492682447 | IGF1R | c.1635C>T (p.Gly545=) n.542C>T n.1635C>T c.1698C>T (p.Gly566=) c.726C>T (p.Gly242=) c.300C>T (p.Gly100=) c.1710C>T (p.Gly570=) c.1272C>T (p.Gly424=) | dbSNP gnomAD v4 |
15 | g.98913090T>A | CA393678884 | IGF1R | c.1636T>A (p.Ser546Thr) n.543T>A n.1636T>A c.1699T>A (p.Ser567Thr) c.727T>A (p.Ser243Thr) c.301T>A (p.Ser101Thr) c.1711T>A (p.Ser571Thr) c.1273T>A (p.Ser425Thr) | dbSNP gnomAD v4 |
15 | g.98913090T>C | CA393678886 | IGF1R | c.1636T>C (p.Ser546Pro) n.543T>C n.1636T>C c.1699T>C (p.Ser567Pro) c.727T>C (p.Ser243Pro) c.301T>C (p.Ser101Pro) c.1711T>C (p.Ser571Pro) c.1273T>C (p.Ser425Pro) | |
15 | g.98913090T>G | CA393678885 | IGF1R | c.1636T>G (p.Ser546Ala) n.543T>G n.1636T>G c.1699T>G (p.Ser567Ala) c.727T>G (p.Ser243Ala) c.301T>G (p.Ser101Ala) c.1711T>G (p.Ser571Ala) c.1273T>G (p.Ser425Ala) | |
15 | g.98913090T= | CA2199287639 | IGF1R | c.1636T= (p.Ser546=) n.543T= n.1636T= c.1699T= (p.Ser567=) c.727T= (p.Ser243=) c.301T= (p.Ser101=) c.1711T= (p.Ser571=) c.1273T= (p.Ser425=) | |
15 | g.98913091C>A | CA393678887 | IGF1R | c.1637C>A (p.Ser546Tyr) n.544C>A n.1637C>A c.1700C>A (p.Ser567Tyr) c.728C>A (p.Ser243Tyr) c.302C>A (p.Ser101Tyr) c.1712C>A (p.Ser571Tyr) c.1274C>A (p.Ser425Tyr) | |
15 | g.98913091C>G | CA393678888 | IGF1R | c.1637C>G (p.Ser546Cys) n.544C>G n.1637C>G c.1700C>G (p.Ser567Cys) c.728C>G (p.Ser243Cys) c.302C>G (p.Ser101Cys) c.1712C>G (p.Ser571Cys) c.1274C>G (p.Ser425Cys) | |
15 | g.98913091C>T | CA393678889 | IGF1R | c.1637C>T (p.Ser546Phe) n.544C>T n.1637C>T c.1700C>T (p.Ser567Phe) c.728C>T (p.Ser243Phe) c.302C>T (p.Ser101Phe) c.1712C>T (p.Ser571Phe) c.1274C>T (p.Ser425Phe) | gnomAD v4 |
15 | g.98913092C>A | CA492682450 | IGF1R | c.1638C>A (p.Ser546=) n.545C>A n.1638C>A c.1701C>A (p.Ser567=) c.729C>A (p.Ser243=) c.303C>A (p.Ser101=) c.1713C>A (p.Ser571=) c.1275C>A (p.Ser425=) | |
15 | g.98913092C= | CA2199287641 | IGF1R | c.1638C= (p.Ser546=) n.545C= n.1638C= c.1701C= (p.Ser567=) c.729C= (p.Ser243=) c.303C= (p.Ser101=) c.1713C= (p.Ser571=) c.1275C= (p.Ser425=) | |
15 | g.98913092C>G | CA492682451 | IGF1R | c.1638C>G (p.Ser546=) n.545C>G n.1638C>G c.1701C>G (p.Ser567=) c.729C>G (p.Ser243=) c.303C>G (p.Ser101=) c.1713C>G (p.Ser571=) c.1275C>G (p.Ser425=) | |
15 | g.98913092C>T | CA7752158 | IGF1R | c.1638C>T (p.Ser546=) n.545C>T n.1638C>T c.1701C>T (p.Ser567=) c.729C>T (p.Ser243=) c.303C>T (p.Ser101=) c.1713C>T (p.Ser571=) c.1275C>T (p.Ser425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.98913093A= | CA2199287649 | IGF1R | c.1639A= (p.Asn547=) n.546A= n.1639A= c.1702A= (p.Asn568=) c.730A= (p.Asn244=) c.304A= (p.Asn102=) c.1714A= (p.Asn572=) c.1276A= (p.Asn426=) | |
15 | g.98913093A>C | CA7752159 | IGF1R | c.1639A>C (p.Asn547His) n.546A>C n.1639A>C c.1702A>C (p.Asn568His) c.730A>C (p.Asn244His) c.304A>C (p.Asn102His) c.1714A>C (p.Asn572His) c.1276A>C (p.Asn426His) | dbSNP ExAC gnomAD v2 |
15 | g.98913093A>G | CA393678890 | IGF1R | c.1639A>G (p.Asn547Asp) n.546A>G n.1639A>G c.1702A>G (p.Asn568Asp) c.730A>G (p.Asn244Asp) c.304A>G (p.Asn102Asp) c.1714A>G (p.Asn572Asp) c.1276A>G (p.Asn426Asp) | |
15 | g.98913093A>T | CA393678891 | IGF1R | c.1639A>T (p.Asn547Tyr) n.546A>T n.1639A>T c.1702A>T (p.Asn568Tyr) c.730A>T (p.Asn244Tyr) c.304A>T (p.Asn102Tyr) c.1714A>T (p.Asn572Tyr) c.1276A>T (p.Asn426Tyr) | |
15 | g.98913094A= | CA2199287652 | IGF1R | c.1640A= (p.Asn547=) n.547A= n.1640A= c.1703A= (p.Asn568=) c.731A= (p.Asn244=) c.305A= (p.Asn102=) c.1715A= (p.Asn572=) c.1277A= (p.Asn426=) | |
15 | g.98913094A>C | CA393678892 | IGF1R | c.1640A>C (p.Asn547Thr) n.547A>C n.1640A>C c.1703A>C (p.Asn568Thr) c.731A>C (p.Asn244Thr) c.305A>C (p.Asn102Thr) c.1715A>C (p.Asn572Thr) c.1277A>C (p.Asn426Thr) | |
15 | g.98913094A>G | CA393678893 | IGF1R | c.1640A>G (p.Asn547Ser) n.547A>G n.1640A>G c.1703A>G (p.Asn568Ser) c.731A>G (p.Asn244Ser) c.305A>G (p.Asn102Ser) c.1715A>G (p.Asn572Ser) c.1277A>G (p.Asn426Ser) | |
15 | g.98913094A>T | CA393678894 | IGF1R | c.1640A>T (p.Asn547Ile) n.547A>T n.1640A>T c.1703A>T (p.Asn568Ile) c.731A>T (p.Asn244Ile) c.305A>T (p.Asn102Ile) c.1715A>T (p.Asn572Ile) c.1277A>T (p.Asn426Ile) | dbSNP |
15 | g.98913095C>A | CA393678895 | IGF1R | c.1641C>A (p.Asn547Lys) n.548C>A n.1641C>A c.1704C>A (p.Asn568Lys) c.732C>A (p.Asn244Lys) c.306C>A (p.Asn102Lys) c.1716C>A (p.Asn572Lys) c.1278C>A (p.Asn426Lys) | |
15 | g.98913095C>G | CA393678896 | IGF1R | c.1641C>G (p.Asn547Lys) n.548C>G n.1641C>G c.1704C>G (p.Asn568Lys) c.732C>G (p.Asn244Lys) c.306C>G (p.Asn102Lys) c.1716C>G (p.Asn572Lys) c.1278C>G (p.Asn426Lys) | |
15 | g.98913095C>T | CA492682455 | IGF1R | c.1641C>T (p.Asn547=) n.548C>T n.1641C>T c.1704C>T (p.Asn568=) c.732C>T (p.Asn244=) c.306C>T (p.Asn102=) c.1716C>T (p.Asn572=) c.1278C>T (p.Asn426=) | |
15 | g.98913096A>C | CA393678899 | IGF1R | c.1642A>C (p.Ser548Arg) n.549A>C n.1642A>C c.1705A>C (p.Ser569Arg) c.733A>C (p.Ser245Arg) c.307A>C (p.Ser103Arg) c.1717A>C (p.Ser573Arg) c.1279A>C (p.Ser427Arg) | |
15 | g.98913096A>G | CA393678897 | IGF1R | c.1642A>G (p.Ser548Gly) n.549A>G n.1642A>G c.1705A>G (p.Ser569Gly) c.733A>G (p.Ser245Gly) c.307A>G (p.Ser103Gly) c.1717A>G (p.Ser573Gly) c.1279A>G (p.Ser427Gly) | |
15 | g.98913096A>T | CA393678898 | IGF1R | c.1642A>T (p.Ser548Cys) n.549A>T n.1642A>T c.1705A>T (p.Ser569Cys) c.733A>T (p.Ser245Cys) c.307A>T (p.Ser103Cys) c.1717A>T (p.Ser573Cys) c.1279A>T (p.Ser427Cys) | |
15 | g.98913097G>A | CA393678900 | IGF1R | c.1643G>A (p.Ser548Asn) n.550G>A n.1643G>A c.1706G>A (p.Ser569Asn) c.734G>A (p.Ser245Asn) c.308G>A (p.Ser103Asn) c.1718G>A (p.Ser573Asn) c.1280G>A (p.Ser427Asn) | |
15 | g.98913097G>C | CA393678901 | IGF1R | c.1643G>C (p.Ser548Thr) n.550G>C n.1643G>C c.1706G>C (p.Ser569Thr) c.734G>C (p.Ser245Thr) c.308G>C (p.Ser103Thr) c.1718G>C (p.Ser573Thr) c.1280G>C (p.Ser427Thr) | ClinVar dbSNP |
15 | g.98913097G>T | CA393678902 | IGF1R | c.1643G>T (p.Ser548Ile) n.550G>T n.1643G>T c.1706G>T (p.Ser569Ile) c.734G>T (p.Ser245Ile) c.308G>T (p.Ser103Ile) c.1718G>T (p.Ser573Ile) c.1280G>T (p.Ser427Ile) | |
15 | g.98913098C>A | CA393678903 | IGF1R | c.1644C>A (p.Ser548Arg) n.551C>A n.1644C>A c.1707C>A (p.Ser569Arg) c.735C>A (p.Ser245Arg) c.309C>A (p.Ser103Arg) c.1719C>A (p.Ser573Arg) c.1281C>A (p.Ser427Arg) | |
15 | g.98913098C= | CA2199287656 | IGF1R | c.1644C= (p.Ser548=) n.551C= n.1644C= c.1707C= (p.Ser569=) c.735C= (p.Ser245=) c.309C= (p.Ser103=) c.1719C= (p.Ser573=) c.1281C= (p.Ser427=) | |
15 | g.98913098C>G | CA393678904 | IGF1R | c.1644C>G (p.Ser548Arg) n.551C>G n.1644C>G c.1707C>G (p.Ser569Arg) c.735C>G (p.Ser245Arg) c.309C>G (p.Ser103Arg) c.1719C>G (p.Ser573Arg) c.1281C>G (p.Ser427Arg) | |
15 | g.98913098C>T | CA492682460 | IGF1R | c.1644C>T (p.Ser548=) n.551C>T n.1644C>T c.1707C>T (p.Ser569=) c.735C>T (p.Ser245=) c.309C>T (p.Ser103=) c.1719C>T (p.Ser573=) c.1281C>T (p.Ser427=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.98913099T>A | CA393678905 | IGF1R | c.1645T>A (p.Trp549Arg) n.552T>A n.1645T>A c.1708T>A (p.Trp570Arg) c.736T>A (p.Trp246Arg) c.310T>A (p.Trp104Arg) c.1720T>A (p.Trp574Arg) c.1282T>A (p.Trp428Arg) | |
15 | g.98913099T>C | CA393678906 | IGF1R | c.1645T>C (p.Trp549Arg) n.552T>C n.1645T>C c.1708T>C (p.Trp570Arg) c.736T>C (p.Trp246Arg) c.310T>C (p.Trp104Arg) c.1720T>C (p.Trp574Arg) c.1282T>C (p.Trp428Arg) | |
15 | g.98913099T>G | CA393678907 | IGF1R | c.1645T>G (p.Trp549Gly) n.552T>G n.1645T>G c.1708T>G (p.Trp570Gly) c.736T>G (p.Trp246Gly) c.310T>G (p.Trp104Gly) c.1720T>G (p.Trp574Gly) c.1282T>G (p.Trp428Gly) | |
15 | g.98913100G>A | CA393678908 | IGF1R | c.1646G>A (p.Trp549Ter) n.553G>A n.1646G>A c.1709G>A (p.Trp570Ter) c.737G>A (p.Trp246Ter) c.311G>A (p.Trp104Ter) c.1721G>A (p.Trp574Ter) c.1283G>A (p.Trp428Ter) | |
15 | g.98913100G>C | CA393678909 | IGF1R | c.1646G>C (p.Trp549Ser) n.553G>C n.1646G>C c.1709G>C (p.Trp570Ser) c.737G>C (p.Trp246Ser) c.311G>C (p.Trp104Ser) c.1721G>C (p.Trp574Ser) c.1283G>C (p.Trp428Ser) | |
15 | g.98913100G>T | CA393678910 | IGF1R | c.1646G>T (p.Trp549Leu) n.553G>T n.1646G>T c.1709G>T (p.Trp570Leu) c.737G>T (p.Trp246Leu) c.311G>T (p.Trp104Leu) c.1721G>T (p.Trp574Leu) c.1283G>T (p.Trp428Leu) | |
15 | g.98913101G>A | CA393678912 | IGF1R | c.1647G>A (p.Trp549Ter) n.554G>A n.1647G>A c.1710G>A (p.Trp570Ter) c.738G>A (p.Trp246Ter) c.312G>A (p.Trp104Ter) c.1722G>A (p.Trp574Ter) c.1284G>A (p.Trp428Ter) | |
15 | g.98913101G>C | CA393678913 | IGF1R | c.1647G>C (p.Trp549Cys) n.554G>C n.1647G>C c.1710G>C (p.Trp570Cys) c.738G>C (p.Trp246Cys) c.312G>C (p.Trp104Cys) c.1722G>C (p.Trp574Cys) c.1284G>C (p.Trp428Cys) | |
15 | g.98913101G>T | CA393678911 | IGF1R | c.1647G>T (p.Trp549Cys) n.554G>T n.1647G>T c.1710G>T (p.Trp570Cys) c.738G>T (p.Trp246Cys) c.312G>T (p.Trp104Cys) c.1722G>T (p.Trp574Cys) c.1284G>T (p.Trp428Cys) | |
15 | g.98913102A= | CA2199287659 | IGF1R | c.1648A= (p.Asn550=) n.555A= n.1648A= c.1711A= (p.Asn571=) c.739A= (p.Asn247=) c.313A= (p.Asn105=) c.1723A= (p.Asn575=) c.1285A= (p.Asn429=) | |
15 | g.98913102A>C | CA393678914 | IGF1R | c.1648A>C (p.Asn550His) n.555A>C n.1648A>C c.1711A>C (p.Asn571His) c.739A>C (p.Asn247His) c.313A>C (p.Asn105His) c.1723A>C (p.Asn575His) c.1285A>C (p.Asn429His) | |
15 | g.98913102A>G | CA393678915 | IGF1R | c.1648A>G (p.Asn550Asp) n.555A>G n.1648A>G c.1711A>G (p.Asn571Asp) c.739A>G (p.Asn247Asp) c.313A>G (p.Asn105Asp) c.1723A>G (p.Asn575Asp) c.1285A>G (p.Asn429Asp) | dbSNP |
15 | g.98913102A>T | CA393678916 | IGF1R | c.1648A>T (p.Asn550Tyr) n.555A>T n.1648A>T c.1711A>T (p.Asn571Tyr) c.739A>T (p.Asn247Tyr) c.313A>T (p.Asn105Tyr) c.1723A>T (p.Asn575Tyr) c.1285A>T (p.Asn429Tyr) | |
15 | g.98913103del | CA2504279107 | IGF1R | c.1649del (p.Asn550ThrfsTer22) n.556del n.1649del c.1712del (p.Asn571ThrfsTer22) c.740del (p.Asn247ThrfsTer22) c.314del (p.Asn105ThrfsTer22) c.1724del (p.Asn575ThrfsTer22) c.1286del (p.Asn429ThrfsTer22) | |
15 | g.98913103A= | CA2199287665 | IGF1R | c.1649A= (p.Asn550=) n.556A= n.1649A= c.1712A= (p.Asn571=) c.740A= (p.Asn247=) c.314A= (p.Asn105=) c.1724A= (p.Asn575=) c.1286A= (p.Asn429=) | |
15 | g.98913103A>C | CA393678917 | IGF1R | c.1649A>C (p.Asn550Thr) n.556A>C n.1649A>C c.1712A>C (p.Asn571Thr) c.740A>C (p.Asn247Thr) c.314A>C (p.Asn105Thr) c.1724A>C (p.Asn575Thr) c.1286A>C (p.Asn429Thr) | dbSNP |
15 | g.98913103A>G | CA393678918 | IGF1R | c.1649A>G (p.Asn550Ser) n.556A>G n.1649A>G c.1712A>G (p.Asn571Ser) c.740A>G (p.Asn247Ser) c.314A>G (p.Asn105Ser) c.1724A>G (p.Asn575Ser) c.1286A>G (p.Asn429Ser) | |
15 | g.98913103A>T | CA393678919 | IGF1R | c.1649A>T (p.Asn550Ile) n.556A>T n.1649A>T c.1712A>T (p.Asn571Ile) c.740A>T (p.Asn247Ile) c.314A>T (p.Asn105Ile) c.1724A>T (p.Asn575Ile) c.1286A>T (p.Asn429Ile) | |
15 | g.98913104C>A | CA393678921 | IGF1R | c.1650C>A (p.Asn550Lys) n.557C>A n.1650C>A c.1713C>A (p.Asn571Lys) c.741C>A (p.Asn247Lys) c.315C>A (p.Asn105Lys) c.1725C>A (p.Asn575Lys) c.1287C>A (p.Asn429Lys) | |
15 | g.98913104C>G | CA393678920 | IGF1R | c.1650C>G (p.Asn550Lys) n.557C>G n.1650C>G c.1713C>G (p.Asn571Lys) c.741C>G (p.Asn247Lys) c.315C>G (p.Asn105Lys) c.1725C>G (p.Asn575Lys) c.1287C>G (p.Asn429Lys) | |
15 | g.98913104C>T | CA492682470 | IGF1R | c.1650C>T (p.Asn550=) n.557C>T n.1650C>T c.1713C>T (p.Asn571=) c.741C>T (p.Asn247=) c.315C>T (p.Asn105=) c.1725C>T (p.Asn575=) c.1287C>T (p.Asn429=) | |
15 | g.98913105A= | CA2199287670 | IGF1R | c.1651A= (p.Met551=) n.558A= n.1651A= c.1714A= (p.Met572=) c.742A= (p.Met248=) c.316A= (p.Met106=) c.1726A= (p.Met576=) c.1288A= (p.Met430=) | |
15 | g.98913105A>C | CA393678922 | IGF1R | c.1651A>C (p.Met551Leu) n.558A>C n.1651A>C c.1714A>C (p.Met572Leu) c.742A>C (p.Met248Leu) c.316A>C (p.Met106Leu) c.1726A>C (p.Met576Leu) c.1288A>C (p.Met430Leu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.98913105A>G | CA393678923 | IGF1R | c.1651A>G (p.Met551Val) n.558A>G n.1651A>G c.1714A>G (p.Met572Val) c.742A>G (p.Met248Val) c.316A>G (p.Met106Val) c.1726A>G (p.Met576Val) c.1288A>G (p.Met430Val) | dbSNP gnomAD v4 |
15 | g.98913105A>T | CA393678924 | IGF1R | c.1651A>T (p.Met551Leu) n.558A>T n.1651A>T c.1714A>T (p.Met572Leu) c.742A>T (p.Met248Leu) c.316A>T (p.Met106Leu) c.1726A>T (p.Met576Leu) c.1288A>T (p.Met430Leu) | |
15 | g.98913105_98913106insG | CA2539147052 | IGF1R | c.1651_1652insG (p.Met551SerfsTer?) n.558_559insG n.1651_1652insG c.1714_1715insG (p.Met572SerfsTer?) c.742_743insG (p.Met248SerfsTer?) c.316_317insG (p.Met106SerfsTer?) c.1726_1727insG (p.Met576SerfsTer?) c.1288_1289insG (p.Met430SerfsTer?) | |
15 | g.98913106T>A | CA393678925 | IGF1R | c.1652T>A (p.Met551Lys) n.559T>A n.1652T>A c.1715T>A (p.Met572Lys) c.743T>A (p.Met248Lys) c.317T>A (p.Met106Lys) c.1727T>A (p.Met576Lys) c.1289T>A (p.Met430Lys) | |
15 | g.98913106T>C | CA275379354 | IGF1R | c.1652T>C (p.Met551Thr) n.559T>C n.1652T>C c.1715T>C (p.Met572Thr) c.743T>C (p.Met248Thr) c.317T>C (p.Met106Thr) c.1727T>C (p.Met576Thr) c.1289T>C (p.Met430Thr) | dbSNP |
15 | g.98913106T>G | CA393678926 | IGF1R | c.1652T>G (p.Met551Arg) n.559T>G n.1652T>G c.1715T>G (p.Met572Arg) c.743T>G (p.Met248Arg) c.317T>G (p.Met106Arg) c.1727T>G (p.Met576Arg) c.1289T>G (p.Met430Arg) | |
15 | g.98913106T= | CA2199287672 | IGF1R | c.1652T= (p.Met551=) n.559T= n.1652T= c.1715T= (p.Met572=) c.743T= (p.Met248=) c.317T= (p.Met106=) c.1727T= (p.Met576=) c.1289T= (p.Met430=) | |
15 | g.98913107G>A | CA393678927 | IGF1R | c.1653G>A (p.Met551Ile) n.560G>A n.1653G>A c.1716G>A (p.Met572Ile) c.744G>A (p.Met248Ile) c.318G>A (p.Met106Ile) c.1728G>A (p.Met576Ile) c.1290G>A (p.Met430Ile) | |
15 | g.98913107G>C | CA393678929 | IGF1R | c.1653G>C (p.Met551Ile) n.560G>C n.1653G>C c.1716G>C (p.Met572Ile) c.744G>C (p.Met248Ile) c.318G>C (p.Met106Ile) c.1728G>C (p.Met576Ile) c.1290G>C (p.Met430Ile) | |
15 | g.98913107G>T | CA393678928 | IGF1R | c.1653G>T (p.Met551Ile) n.560G>T n.1653G>T c.1716G>T (p.Met572Ile) c.744G>T (p.Met248Ile) c.318G>T (p.Met106Ile) c.1728G>T (p.Met576Ile) c.1290G>T (p.Met430Ile) | |
15 | g.98913108del | CA2731815857 | IGF1R | c.1654del (p.Val552TrpfsTer20) n.561del n.1654del c.1717del (p.Val573TrpfsTer20) c.745del (p.Val249TrpfsTer20) c.319del (p.Val107TrpfsTer20) c.1729del (p.Val577TrpfsTer20) c.1291del (p.Val431TrpfsTer20) | dbSNP |
15 | g.98913108G>A | CA393678930 | IGF1R | c.1654G>A (p.Val552Met) n.561G>A n.1654G>A c.1717G>A (p.Val573Met) c.745G>A (p.Val249Met) c.319G>A (p.Val107Met) c.1729G>A (p.Val577Met) c.1291G>A (p.Val431Met) | |
15 | g.98913108G>C | CA393678931 | IGF1R | c.1654G>C (p.Val552Leu) n.561G>C n.1654G>C c.1717G>C (p.Val573Leu) c.745G>C (p.Val249Leu) c.319G>C (p.Val107Leu) c.1729G>C (p.Val577Leu) c.1291G>C (p.Val431Leu) | |
15 | g.98913108G>T | CA393678932 | IGF1R | c.1654G>T (p.Val552Leu) n.561G>T n.1654G>T c.1717G>T (p.Val573Leu) c.745G>T (p.Val249Leu) c.319G>T (p.Val107Leu) c.1729G>T (p.Val577Leu) c.1291G>T (p.Val431Leu) | |
15 | g.98913109T>A | CA393678933 | IGF1R | c.1655T>A (p.Val552Glu) n.562T>A n.1655T>A c.1718T>A (p.Val573Glu) c.746T>A (p.Val249Glu) c.320T>A (p.Val107Glu) c.1730T>A (p.Val577Glu) c.1292T>A (p.Val431Glu) | |
15 | g.98913109T>C | CA393678934 | IGF1R | c.1655T>C (p.Val552Ala) n.562T>C n.1655T>C c.1718T>C (p.Val573Ala) c.746T>C (p.Val249Ala) c.320T>C (p.Val107Ala) c.1730T>C (p.Val577Ala) c.1292T>C (p.Val431Ala) | |
15 | g.98913109T>G | CA393678935 | IGF1R | c.1655T>G (p.Val552Gly) n.562T>G n.1655T>G c.1718T>G (p.Val573Gly) c.746T>G (p.Val249Gly) c.320T>G (p.Val107Gly) c.1730T>G (p.Val577Gly) c.1292T>G (p.Val431Gly) | dbSNP |
15 | g.98913110G>A | CA492682474 | IGF1R | c.1656G>A (p.Val552=) n.563G>A n.1656G>A c.1719G>A (p.Val573=) c.747G>A (p.Val249=) c.321G>A (p.Val107=) c.1731G>A (p.Val577=) c.1293G>A (p.Val431=) | |
15 | g.98913110G>C | CA492682475 | IGF1R | c.1656G>C (p.Val552=) n.563G>C n.1656G>C c.1719G>C (p.Val573=) c.747G>C (p.Val249=) c.321G>C (p.Val107=) c.1731G>C (p.Val577=) c.1293G>C (p.Val431=) | |
15 | g.98913110G>T | CA492682477 | IGF1R | c.1656G>T (p.Val552=) n.563G>T n.1656G>T c.1719G>T (p.Val573=) c.747G>T (p.Val249=) c.321G>T (p.Val107=) c.1731G>T (p.Val577=) c.1293G>T (p.Val431=) | |
15 | g.98913119_98913142dup | CA2630564590 | IGF1R | c.1665_1688dup (p.Val562_Glu563insAspLeuProProAsnLysAspVal) n.1665_1688dup c.1728_1751dup (p.Val583_Glu584insAspLeuProProAsnLysAspVal) c.756_779dup (p.Val259_Glu260insAspLeuProProAsnLysAspVal) c.330_353dup (p.Val117_Glu118insAspLeuProProAsnLysAspVal) c.1740_1763dup (p.Val587_Glu588insAspLeuProProAsnLysAspVal) c.1302_1325dup (p.Val441_Glu442insAspLeuProProAsnLysAspVal) | gnomAD v4 |
15 | g.98913111G>A | CA393678936 | IGF1R | c.1657G>A (p.Asp553Asn) n.564G>A n.1657G>A c.1720G>A (p.Asp574Asn) c.748G>A (p.Asp250Asn) c.322G>A (p.Asp108Asn) c.1732G>A (p.Asp578Asn) c.1294G>A (p.Asp432Asn) | |
15 | g.98913111G>C | CA393678937 | IGF1R | c.1657G>C (p.Asp553His) n.564G>C n.1657G>C c.1720G>C (p.Asp574His) c.748G>C (p.Asp250His) c.322G>C (p.Asp108His) c.1732G>C (p.Asp578His) c.1294G>C (p.Asp432His) | |
15 | g.98913111G>T | CA393678938 | IGF1R | c.1657G>T (p.Asp553Tyr) n.564G>T n.1657G>T c.1720G>T (p.Asp574Tyr) c.748G>T (p.Asp250Tyr) c.322G>T (p.Asp108Tyr) c.1732G>T (p.Asp578Tyr) c.1294G>T (p.Asp432Tyr) | |
15 | g.98913112A>C | CA393678939 | IGF1R | c.1658A>C (p.Asp553Ala) n.565A>C n.1658A>C c.1721A>C (p.Asp574Ala) c.749A>C (p.Asp250Ala) c.323A>C (p.Asp108Ala) c.1733A>C (p.Asp578Ala) c.1295A>C (p.Asp432Ala) | |
15 | g.98913112A>G | CA393678940 | IGF1R | c.1658A>G (p.Asp553Gly) n.565A>G n.1658A>G c.1721A>G (p.Asp574Gly) c.749A>G (p.Asp250Gly) c.323A>G (p.Asp108Gly) c.1733A>G (p.Asp578Gly) c.1295A>G (p.Asp432Gly) | |
15 | g.98913112A>T | CA393678941 | IGF1R | c.1658A>T (p.Asp553Val) n.565A>T n.1658A>T c.1721A>T (p.Asp574Val) c.749A>T (p.Asp250Val) c.323A>T (p.Asp108Val) c.1733A>T (p.Asp578Val) c.1295A>T (p.Asp432Val) | |
15 | g.98913113C>A | CA393678942 | IGF1R | c.1659C>A (p.Asp553Glu) n.566C>A n.1659C>A c.1722C>A (p.Asp574Glu) c.750C>A (p.Asp250Glu) c.324C>A (p.Asp108Glu) c.1734C>A (p.Asp578Glu) c.1296C>A (p.Asp432Glu) | |
15 | g.98913113C= | CA2199287679 | IGF1R | c.1659C= (p.Asp553=) n.566C= n.1659C= c.1722C= (p.Asp574=) c.750C= (p.Asp250=) c.324C= (p.Asp108=) c.1734C= (p.Asp578=) c.1296C= (p.Asp432=) | |
15 | g.98913113C>G | CA393678943 | IGF1R | c.1659C>G (p.Asp553Glu) n.566C>G n.1659C>G c.1722C>G (p.Asp574Glu) c.750C>G (p.Asp250Glu) c.324C>G (p.Asp108Glu) c.1734C>G (p.Asp578Glu) c.1296C>G (p.Asp432Glu) | dbSNP |
15 | g.98913113C>T | CA7752160 | IGF1R | c.1659C>T (p.Asp553=) n.566C>T n.1659C>T c.1722C>T (p.Asp574=) c.750C>T (p.Asp250=) c.324C>T (p.Asp108=) c.1734C>T (p.Asp578=) c.1296C>T (p.Asp432=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913114G>A | CA7752161 | IGF1R | c.1660G>A (p.Val554Met) n.567G>A n.1660G>A c.1723G>A (p.Val575Met) c.751G>A (p.Val251Met) c.325G>A (p.Val109Met) c.1735G>A (p.Val579Met) c.1297G>A (p.Val433Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.98913114G>C | CA393678945 | IGF1R | c.1660G>C (p.Val554Leu) n.567G>C n.1660G>C c.1723G>C (p.Val575Leu) c.751G>C (p.Val251Leu) c.325G>C (p.Val109Leu) c.1735G>C (p.Val579Leu) c.1297G>C (p.Val433Leu) | |
15 | g.98913114G= | CA2199287684 | IGF1R | c.1660G= (p.Val554=) n.567G= n.1660G= c.1723G= (p.Val575=) c.751G= (p.Val251=) c.325G= (p.Val109=) c.1735G= (p.Val579=) c.1297G= (p.Val433=) | |
15 | g.98913114G>T | CA393678944 | IGF1R | c.1660G>T (p.Val554Leu) n.567G>T n.1660G>T c.1723G>T (p.Val575Leu) c.751G>T (p.Val251Leu) c.325G>T (p.Val109Leu) c.1735G>T (p.Val579Leu) c.1297G>T (p.Val433Leu) | |
15 | g.98913115T>A | CA393678946 | IGF1R | c.1661T>A (p.Val554Glu) n.1661T>A c.1724T>A (p.Val575Glu) c.752T>A (p.Val251Glu) c.326T>A (p.Val109Glu) c.1736T>A (p.Val579Glu) c.1298T>A (p.Val433Glu) | |
15 | g.98913115T>C | CA393678948 | IGF1R | c.1661T>C (p.Val554Ala) n.1661T>C c.1724T>C (p.Val575Ala) c.752T>C (p.Val251Ala) c.326T>C (p.Val109Ala) c.1736T>C (p.Val579Ala) c.1298T>C (p.Val433Ala) | |
15 | g.98913115T>G | CA393678947 | IGF1R | c.1661T>G (p.Val554Gly) n.1661T>G c.1724T>G (p.Val575Gly) c.752T>G (p.Val251Gly) c.326T>G (p.Val109Gly) c.1736T>G (p.Val579Gly) c.1298T>G (p.Val433Gly) | dbSNP |
15 | g.98913116G>A | CA492682480 | IGF1R | c.1662G>A (p.Val554=) n.1662G>A c.1725G>A (p.Val575=) c.753G>A (p.Val251=) c.327G>A (p.Val109=) c.1737G>A (p.Val579=) c.1299G>A (p.Val433=) | |
15 | g.98913116G>C | CA7752162 | IGF1R | c.1662G>C (p.Val554=) n.1662G>C c.1725G>C (p.Val575=) c.753G>C (p.Val251=) c.327G>C (p.Val109=) c.1737G>C (p.Val579=) c.1299G>C (p.Val433=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913116G= | CA2199287688 | IGF1R | c.1662G= (p.Val554=) n.1662G= c.1725G= (p.Val575=) c.753G= (p.Val251=) c.327G= (p.Val109=) c.1737G= (p.Val579=) c.1299G= (p.Val433=) | |
15 | g.98913116G>T | CA492682481 | IGF1R | c.1662G>T (p.Val554=) n.1662G>T c.1725G>T (p.Val575=) c.753G>T (p.Val251=) c.327G>T (p.Val109=) c.1737G>T (p.Val579=) c.1299G>T (p.Val433=) | |
15 | g.98913117G>A | CA393678949 | IGF1R | c.1663G>A (p.Asp555Asn) n.1663G>A c.1726G>A (p.Asp576Asn) c.754G>A (p.Asp252Asn) c.328G>A (p.Asp110Asn) c.1738G>A (p.Asp580Asn) c.1300G>A (p.Asp434Asn) | |
15 | g.98913117G>C | CA393678950 | IGF1R | c.1663G>C (p.Asp555His) n.1663G>C c.1726G>C (p.Asp576His) c.754G>C (p.Asp252His) c.328G>C (p.Asp110His) c.1738G>C (p.Asp580His) c.1300G>C (p.Asp434His) | |
15 | g.98913117G>T | CA393678951 | IGF1R | c.1663G>T (p.Asp555Tyr) n.1663G>T c.1726G>T (p.Asp576Tyr) c.754G>T (p.Asp252Tyr) c.328G>T (p.Asp110Tyr) c.1738G>T (p.Asp580Tyr) c.1300G>T (p.Asp434Tyr) | |
15 | g.98913118A>C | CA393678952 | IGF1R | c.1664A>C (p.Asp555Ala) n.1664A>C c.1727A>C (p.Asp576Ala) c.755A>C (p.Asp252Ala) c.329A>C (p.Asp110Ala) c.1739A>C (p.Asp580Ala) c.1301A>C (p.Asp434Ala) | dbSNP |
15 | g.98913118A>G | CA393678953 | IGF1R | c.1664A>G (p.Asp555Gly) n.1664A>G c.1727A>G (p.Asp576Gly) c.755A>G (p.Asp252Gly) c.329A>G (p.Asp110Gly) c.1739A>G (p.Asp580Gly) c.1301A>G (p.Asp434Gly) | dbSNP |
15 | g.98913118A>T | CA393678954 | IGF1R | c.1664A>T (p.Asp555Val) n.1664A>T c.1727A>T (p.Asp576Val) c.755A>T (p.Asp252Val) c.329A>T (p.Asp110Val) c.1739A>T (p.Asp580Val) c.1301A>T (p.Asp434Val) | dbSNP |
15 | g.98913119C>A | CA393678955 | IGF1R | c.1665C>A (p.Asp555Glu) n.1665C>A c.1728C>A (p.Asp576Glu) c.756C>A (p.Asp252Glu) c.330C>A (p.Asp110Glu) c.1740C>A (p.Asp580Glu) c.1302C>A (p.Asp434Glu) | |
15 | g.98913119C>G | CA393678956 | IGF1R | c.1665C>G (p.Asp555Glu) n.1665C>G c.1728C>G (p.Asp576Glu) c.756C>G (p.Asp252Glu) c.330C>G (p.Asp110Glu) c.1740C>G (p.Asp580Glu) c.1302C>G (p.Asp434Glu) | |
15 | g.98913119C>T | CA492682486 | IGF1R | c.1665C>T (p.Asp555=) n.1665C>T c.1728C>T (p.Asp576=) c.756C>T (p.Asp252=) c.330C>T (p.Asp110=) c.1740C>T (p.Asp580=) c.1302C>T (p.Asp434=) | gnomAD v4 |
15 | g.98913120C>A | CA393678957 | IGF1R | c.1666C>A (p.Leu556Ile) n.1666C>A c.1729C>A (p.Leu577Ile) c.757C>A (p.Leu253Ile) c.331C>A (p.Leu111Ile) c.1741C>A (p.Leu581Ile) c.1303C>A (p.Leu435Ile) | |
15 | g.98913120C>G | CA393678958 | IGF1R | c.1666C>G (p.Leu556Val) n.1666C>G c.1729C>G (p.Leu577Val) c.757C>G (p.Leu253Val) c.331C>G (p.Leu111Val) c.1741C>G (p.Leu581Val) c.1303C>G (p.Leu435Val) | |
15 | g.98913120C>T | CA393678959 | IGF1R | c.1666C>T (p.Leu556Phe) n.1666C>T c.1729C>T (p.Leu577Phe) c.757C>T (p.Leu253Phe) c.331C>T (p.Leu111Phe) c.1741C>T (p.Leu581Phe) c.1303C>T (p.Leu435Phe) | dbSNP |
15 | g.98913121T>A | CA393678960 | IGF1R | c.1667T>A (p.Leu556His) n.1667T>A c.1730T>A (p.Leu577His) c.758T>A (p.Leu253His) c.332T>A (p.Leu111His) c.1742T>A (p.Leu581His) c.1304T>A (p.Leu435His) | |
15 | g.98913121T>C | CA7752163 | IGF1R | c.1667T>C (p.Leu556Pro) n.1667T>C c.1730T>C (p.Leu577Pro) c.758T>C (p.Leu253Pro) c.332T>C (p.Leu111Pro) c.1742T>C (p.Leu581Pro) c.1304T>C (p.Leu435Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913121T>G | CA393678961 | IGF1R | c.1667T>G (p.Leu556Arg) n.1667T>G c.1730T>G (p.Leu577Arg) c.758T>G (p.Leu253Arg) c.332T>G (p.Leu111Arg) c.1742T>G (p.Leu581Arg) c.1304T>G (p.Leu435Arg) | |
15 | g.98913121T= | CA2199287691 | IGF1R | c.1667T= (p.Leu556=) n.1667T= c.1730T= (p.Leu577=) c.758T= (p.Leu253=) c.332T= (p.Leu111=) c.1742T= (p.Leu581=) c.1304T= (p.Leu435=) | |
15 | g.98913122C>A | CA492682490 | IGF1R | c.1668C>A (p.Leu556=) n.1668C>A c.1731C>A (p.Leu577=) c.759C>A (p.Leu253=) c.333C>A (p.Leu111=) c.1743C>A (p.Leu581=) c.1305C>A (p.Leu435=) | gnomAD v4 |
15 | g.98913122C= | CA2199287692 | IGF1R | c.1668C= (p.Leu556=) n.1668C= c.1731C= (p.Leu577=) c.759C= (p.Leu253=) c.333C= (p.Leu111=) c.1743C= (p.Leu581=) c.1305C= (p.Leu435=) | |
15 | g.98913122C>G | CA7752164 | IGF1R | c.1668C>G (p.Leu556=) n.1668C>G c.1731C>G (p.Leu577=) c.759C>G (p.Leu253=) c.333C>G (p.Leu111=) c.1743C>G (p.Leu581=) c.1305C>G (p.Leu435=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.98913122C>T | CA492682491 | IGF1R | c.1668C>T (p.Leu556=) n.1668C>T c.1731C>T (p.Leu577=) c.759C>T (p.Leu253=) c.333C>T (p.Leu111=) c.1743C>T (p.Leu581=) c.1305C>T (p.Leu435=) | dbSNP gnomAD v4 |
15 | g.98913123C>A | CA393678962 | IGF1R | c.1669C>A (p.Pro557Thr) n.1669C>A c.1732C>A (p.Pro578Thr) c.760C>A (p.Pro254Thr) c.334C>A (p.Pro112Thr) c.1744C>A (p.Pro582Thr) c.1306C>A (p.Pro436Thr) | |
15 | g.98913123C= | CA2199287696 | IGF1R | c.1669C= (p.Pro557=) n.1669C= c.1732C= (p.Pro578=) c.760C= (p.Pro254=) c.334C= (p.Pro112=) c.1744C= (p.Pro582=) c.1306C= (p.Pro436=) | |
15 | g.98913123C>G | CA7752165 | IGF1R | c.1669C>G (p.Pro557Ala) n.1669C>G c.1732C>G (p.Pro578Ala) c.760C>G (p.Pro254Ala) c.334C>G (p.Pro112Ala) c.1744C>G (p.Pro582Ala) c.1306C>G (p.Pro436Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913123C>T | CA393678963 | IGF1R | c.1669C>T (p.Pro557Ser) n.1669C>T c.1732C>T (p.Pro578Ser) c.760C>T (p.Pro254Ser) c.334C>T (p.Pro112Ser) c.1744C>T (p.Pro582Ser) c.1306C>T (p.Pro436Ser) | ClinVar dbSNP |
15 | g.98913124C>A | CA393678964 | IGF1R | c.1670C>A (p.Pro557Gln) n.1670C>A c.1733C>A (p.Pro578Gln) c.761C>A (p.Pro254Gln) c.335C>A (p.Pro112Gln) c.1745C>A (p.Pro582Gln) c.1307C>A (p.Pro436Gln) | |
15 | g.98913124C= | CA2199287702 | IGF1R | c.1670C= (p.Pro557=) n.1670C= c.1733C= (p.Pro578=) c.761C= (p.Pro254=) c.335C= (p.Pro112=) c.1745C= (p.Pro582=) c.1307C= (p.Pro436=) | |
15 | g.98913124C>G | CA393678965 | IGF1R | c.1670C>G (p.Pro557Arg) n.1670C>G c.1733C>G (p.Pro578Arg) c.761C>G (p.Pro254Arg) c.335C>G (p.Pro112Arg) c.1745C>G (p.Pro582Arg) c.1307C>G (p.Pro436Arg) | gnomAD v4 |
15 | g.98913124C>T | CA7752166 | IGF1R | c.1670C>T (p.Pro557Leu) n.1670C>T c.1733C>T (p.Pro578Leu) c.761C>T (p.Pro254Leu) c.335C>T (p.Pro112Leu) c.1745C>T (p.Pro582Leu) c.1307C>T (p.Pro436Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913125G>A | CA7752167 | IGF1R | c.1671G>A (p.Pro557=) n.1671G>A c.1734G>A (p.Pro578=) c.762G>A (p.Pro254=) c.336G>A (p.Pro112=) c.1746G>A (p.Pro582=) c.1308G>A (p.Pro436=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.98913125G>C | CA492682498 | IGF1R | c.1671G>C (p.Pro557=) n.1671G>C c.1734G>C (p.Pro578=) c.762G>C (p.Pro254=) c.336G>C (p.Pro112=) c.1746G>C (p.Pro582=) c.1308G>C (p.Pro436=) | dbSNP |
15 | g.98913125G= | CA2199287707 | IGF1R | c.1671G= (p.Pro557=) n.1671G= c.1734G= (p.Pro578=) c.762G= (p.Pro254=) c.336G= (p.Pro112=) c.1746G= (p.Pro582=) c.1308G= (p.Pro436=) | |
15 | g.98913125G>T | CA492682499 | IGF1R | c.1671G>T (p.Pro557=) n.1671G>T c.1734G>T (p.Pro578=) c.762G>T (p.Pro254=) c.336G>T (p.Pro112=) c.1746G>T (p.Pro582=) c.1308G>T (p.Pro436=) | |
15 | g.98913126C>A | CA393678966 | IGF1R | c.1672C>A (p.Pro558Thr) n.1672C>A c.1735C>A (p.Pro579Thr) c.763C>A (p.Pro255Thr) c.337C>A (p.Pro113Thr) c.1747C>A (p.Pro583Thr) c.1309C>A (p.Pro437Thr) | |
15 | g.98913126C>G | CA393678967 | IGF1R | c.1672C>G (p.Pro558Ala) n.1672C>G c.1735C>G (p.Pro579Ala) c.763C>G (p.Pro255Ala) c.337C>G (p.Pro113Ala) c.1747C>G (p.Pro583Ala) c.1309C>G (p.Pro437Ala) | |
15 | g.98913126C>T | CA393678968 | IGF1R | c.1672C>T (p.Pro558Ser) n.1672C>T c.1735C>T (p.Pro579Ser) c.763C>T (p.Pro255Ser) c.337C>T (p.Pro113Ser) c.1747C>T (p.Pro583Ser) c.1309C>T (p.Pro437Ser) | gnomAD v4 |
15 | g.98913127C>A | CA393678969 | IGF1R | c.1673C>A (p.Pro558His) n.1673C>A c.1736C>A (p.Pro579His) c.764C>A (p.Pro255His) c.338C>A (p.Pro113His) c.1748C>A (p.Pro583His) c.1310C>A (p.Pro437His) | |
15 | g.98913127C= | CA2199287714 | IGF1R | c.1673C= (p.Pro558=) n.1673C= c.1736C= (p.Pro579=) c.764C= (p.Pro255=) c.338C= (p.Pro113=) c.1748C= (p.Pro583=) c.1310C= (p.Pro437=) | |
15 | g.98913127C>G | CA393678970 | IGF1R | c.1673C>G (p.Pro558Arg) n.1673C>G c.1736C>G (p.Pro579Arg) c.764C>G (p.Pro255Arg) c.338C>G (p.Pro113Arg) c.1748C>G (p.Pro583Arg) c.1310C>G (p.Pro437Arg) | |
15 | g.98913127C>T | CA393678971 | IGF1R | c.1673C>T (p.Pro558Leu) n.1673C>T c.1736C>T (p.Pro579Leu) c.764C>T (p.Pro255Leu) c.338C>T (p.Pro113Leu) c.1748C>T (p.Pro583Leu) c.1310C>T (p.Pro437Leu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.98913128C>A | CA492682502 | IGF1R | c.1674C>A (p.Pro558=) n.1674C>A c.1737C>A (p.Pro579=) c.765C>A (p.Pro255=) c.339C>A (p.Pro113=) c.1749C>A (p.Pro583=) c.1311C>A (p.Pro437=) | |
15 | g.98913128C>G | CA492682503 | IGF1R | c.1674C>G (p.Pro558=) n.1674C>G c.1737C>G (p.Pro579=) c.765C>G (p.Pro255=) c.339C>G (p.Pro113=) c.1749C>G (p.Pro583=) c.1311C>G (p.Pro437=) | |
15 | g.98913128C>T | CA492682505 | IGF1R | c.1674C>T (p.Pro558=) n.1674C>T c.1737C>T (p.Pro579=) c.765C>T (p.Pro255=) c.339C>T (p.Pro113=) c.1749C>T (p.Pro583=) c.1311C>T (p.Pro437=) | |
15 | g.98913129A>C | CA393678972 | IGF1R | c.1675A>C (p.Asn559His) n.1675A>C c.1738A>C (p.Asn580His) c.766A>C (p.Asn256His) c.340A>C (p.Asn114His) c.1750A>C (p.Asn584His) c.1312A>C (p.Asn438His) | |
15 | g.98913129A>G | CA393678974 | IGF1R | c.1675A>G (p.Asn559Asp) n.1675A>G c.1738A>G (p.Asn580Asp) c.766A>G (p.Asn256Asp) c.340A>G (p.Asn114Asp) c.1750A>G (p.Asn584Asp) c.1312A>G (p.Asn438Asp) | |
15 | g.98913129A>T | CA393678973 | IGF1R | c.1675A>T (p.Asn559Tyr) n.1675A>T c.1738A>T (p.Asn580Tyr) c.766A>T (p.Asn256Tyr) c.340A>T (p.Asn114Tyr) c.1750A>T (p.Asn584Tyr) c.1312A>T (p.Asn438Tyr) | |
15 | g.98913130A>C | CA393678975 | IGF1R | c.1676A>C (p.Asn559Thr) n.1676A>C c.1739A>C (p.Asn580Thr) c.767A>C (p.Asn256Thr) c.341A>C (p.Asn114Thr) c.1751A>C (p.Asn584Thr) c.1313A>C (p.Asn438Thr) | |
15 | g.98913130A>G | CA393678976 | IGF1R | c.1676A>G (p.Asn559Ser) n.1676A>G c.1739A>G (p.Asn580Ser) c.767A>G (p.Asn256Ser) c.341A>G (p.Asn114Ser) c.1751A>G (p.Asn584Ser) c.1313A>G (p.Asn438Ser) | |
15 | g.98913130A>T | CA393678977 | IGF1R | c.1676A>T (p.Asn559Ile) n.1676A>T c.1739A>T (p.Asn580Ile) c.767A>T (p.Asn256Ile) c.341A>T (p.Asn114Ile) c.1751A>T (p.Asn584Ile) c.1313A>T (p.Asn438Ile) | |
15 | g.98913131C>A | CA393678978 | IGF1R | c.1677C>A (p.Asn559Lys) n.1677C>A c.1740C>A (p.Asn580Lys) c.768C>A (p.Asn256Lys) c.342C>A (p.Asn114Lys) c.1752C>A (p.Asn584Lys) c.1314C>A (p.Asn438Lys) | gnomAD v4 |
15 | g.98913131C= | CA2199287720 | IGF1R | c.1677C= (p.Asn559=) n.1677C= c.1740C= (p.Asn580=) c.768C= (p.Asn256=) c.342C= (p.Asn114=) c.1752C= (p.Asn584=) c.1314C= (p.Asn438=) | |
15 | g.98913131C>G | CA7752168 | IGF1R | c.1677C>G (p.Asn559Lys) n.1677C>G c.1740C>G (p.Asn580Lys) c.768C>G (p.Asn256Lys) c.342C>G (p.Asn114Lys) c.1752C>G (p.Asn584Lys) c.1314C>G (p.Asn438Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.98913131C>T | CA492682508 | IGF1R | c.1677C>T (p.Asn559=) n.1677C>T c.1740C>T (p.Asn580=) c.768C>T (p.Asn256=) c.342C>T (p.Asn114=) c.1752C>T (p.Asn584=) c.1314C>T (p.Asn438=) | |
15 | g.98913132A= | CA2199287723 | IGF1R | c.1678A= (p.Lys560=) n.1678A= c.1741A= (p.Lys581=) c.769A= (p.Lys257=) c.343A= (p.Lys115=) c.1753A= (p.Lys585=) c.1315A= (p.Lys439=) | |
15 | g.98913132A>C | CA393678979 | IGF1R | c.1678A>C (p.Lys560Gln) n.1678A>C c.1741A>C (p.Lys581Gln) c.769A>C (p.Lys257Gln) c.343A>C (p.Lys115Gln) c.1753A>C (p.Lys585Gln) c.1315A>C (p.Lys439Gln) | |
15 | g.98913132A>G | CA393678980 | IGF1R | c.1678A>G (p.Lys560Glu) n.1678A>G c.1741A>G (p.Lys581Glu) c.769A>G (p.Lys257Glu) c.343A>G (p.Lys115Glu) c.1753A>G (p.Lys585Glu) c.1315A>G (p.Lys439Glu) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.98913132A>T | CA393678981 | IGF1R | c.1678A>T (p.Lys560Ter) n.1678A>T c.1741A>T (p.Lys581Ter) c.769A>T (p.Lys257Ter) c.343A>T (p.Lys115Ter) c.1753A>T (p.Lys585Ter) c.1315A>T (p.Lys439Ter) | |
15 | g.98913133A= | CA2199287728 | IGF1R | c.1679A= (p.Lys560=) n.1679A= c.1742A= (p.Lys581=) c.770A= (p.Lys257=) c.344A= (p.Lys115=) c.1754A= (p.Lys585=) c.1316A= (p.Lys439=) | |
15 | g.98913133A>C | CA393678982 | IGF1R | c.1679A>C (p.Lys560Thr) n.1679A>C c.1742A>C (p.Lys581Thr) c.770A>C (p.Lys257Thr) c.344A>C (p.Lys115Thr) c.1754A>C (p.Lys585Thr) c.1316A>C (p.Lys439Thr) | |
15 | g.98913133A>G | CA7752169 | IGF1R | c.1679A>G (p.Lys560Arg) n.1679A>G c.1742A>G (p.Lys581Arg) c.770A>G (p.Lys257Arg) c.344A>G (p.Lys115Arg) c.1754A>G (p.Lys585Arg) c.1316A>G (p.Lys439Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913133A>T | CA393678983 | IGF1R | c.1679A>T (p.Lys560Met) n.1679A>T c.1742A>T (p.Lys581Met) c.770A>T (p.Lys257Met) c.344A>T (p.Lys115Met) c.1754A>T (p.Lys585Met) c.1316A>T (p.Lys439Met) | |
15 | g.98913134G>A | CA7752170 | IGF1R | c.1680G>A (p.Lys560=) n.1680G>A c.1743G>A (p.Lys581=) c.771G>A (p.Lys257=) c.345G>A (p.Lys115=) c.1755G>A (p.Lys585=) c.1317G>A (p.Lys439=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.98913134G>C | CA393678985 | IGF1R | c.1680G>C (p.Lys560Asn) n.1680G>C c.1743G>C (p.Lys581Asn) c.771G>C (p.Lys257Asn) c.345G>C (p.Lys115Asn) c.1755G>C (p.Lys585Asn) c.1317G>C (p.Lys439Asn) | COSMIC |
15 | g.98913134G= | CA2199287735 | IGF1R | c.1680G= (p.Lys560=) n.1680G= c.1743G= (p.Lys581=) c.771G= (p.Lys257=) c.345G= (p.Lys115=) c.1755G= (p.Lys585=) c.1317G= (p.Lys439=) | |
15 | g.98913134G>T | CA393678984 | IGF1R | c.1680G>T (p.Lys560Asn) n.1680G>T c.1743G>T (p.Lys581Asn) c.771G>T (p.Lys257Asn) c.345G>T (p.Lys115Asn) c.1755G>T (p.Lys585Asn) c.1317G>T (p.Lys439Asn) | |
15 | g.98913135G>A | CA393678986 | IGF1R | c.1681G>A (p.Asp561Asn) n.1681G>A c.1744G>A (p.Asp582Asn) c.772G>A (p.Asp258Asn) c.346G>A (p.Asp116Asn) c.1756G>A (p.Asp586Asn) c.1318G>A (p.Asp440Asn) | |
15 | g.98913135G>C | CA393678987 | IGF1R | c.1681G>C (p.Asp561His) n.1681G>C c.1744G>C (p.Asp582His) c.772G>C (p.Asp258His) c.346G>C (p.Asp116His) c.1756G>C (p.Asp586His) c.1318G>C (p.Asp440His) | |
15 | g.98913135G>T | CA393678988 | IGF1R | c.1681G>T (p.Asp561Tyr) n.1681G>T c.1744G>T (p.Asp582Tyr) c.772G>T (p.Asp258Tyr) c.346G>T (p.Asp116Tyr) c.1756G>T (p.Asp586Tyr) c.1318G>T (p.Asp440Tyr) | |
15 | g.98913136A>C | CA393678989 | IGF1R | c.1682A>C (p.Asp561Ala) n.1682A>C c.1745A>C (p.Asp582Ala) c.773A>C (p.Asp258Ala) c.347A>C (p.Asp116Ala) c.1757A>C (p.Asp586Ala) c.1319A>C (p.Asp440Ala) | |
15 | g.98913136A>G | CA393678990 | IGF1R | c.1682A>G (p.Asp561Gly) n.1682A>G c.1745A>G (p.Asp582Gly) c.773A>G (p.Asp258Gly) c.347A>G (p.Asp116Gly) c.1757A>G (p.Asp586Gly) c.1319A>G (p.Asp440Gly) | |
15 | g.98913136A>T | CA393678991 | IGF1R | c.1682A>T (p.Asp561Val) n.1682A>T c.1745A>T (p.Asp582Val) c.773A>T (p.Asp258Val) c.347A>T (p.Asp116Val) c.1757A>T (p.Asp586Val) c.1319A>T (p.Asp440Val) | |
15 | g.98913137C>A | CA393678992 | IGF1R | c.1683C>A (p.Asp561Glu) n.1683C>A c.1746C>A (p.Asp582Glu) c.774C>A (p.Asp258Glu) c.348C>A (p.Asp116Glu) c.1758C>A (p.Asp586Glu) c.1320C>A (p.Asp440Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913137C= | CA2199287746 | IGF1R | c.1683C= (p.Asp561=) n.1683C= c.1746C= (p.Asp582=) c.774C= (p.Asp258=) c.348C= (p.Asp116=) c.1758C= (p.Asp586=) c.1320C= (p.Asp440=) | |
15 | g.98913137C>G | CA393678993 | IGF1R | c.1683C>G (p.Asp561Glu) n.1683C>G c.1746C>G (p.Asp582Glu) c.774C>G (p.Asp258Glu) c.348C>G (p.Asp116Glu) c.1758C>G (p.Asp586Glu) c.1320C>G (p.Asp440Glu) | |
15 | g.98913137C>T | CA7752171 | IGF1R | c.1683C>T (p.Asp561=) n.1683C>T c.1746C>T (p.Asp582=) c.774C>T (p.Asp258=) c.348C>T (p.Asp116=) c.1758C>T (p.Asp586=) c.1320C>T (p.Asp440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913138G>A | CA7752173 | IGF1R | c.1684G>A (p.Val562Met) n.1684G>A c.1747G>A (p.Val583Met) c.775G>A (p.Val259Met) c.349G>A (p.Val117Met) c.1759G>A (p.Val587Met) c.1321G>A (p.Val441Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913138G>C | CA393678994 | IGF1R | c.1684G>C (p.Val562Leu) n.1684G>C c.1747G>C (p.Val583Leu) c.775G>C (p.Val259Leu) c.349G>C (p.Val117Leu) c.1759G>C (p.Val587Leu) c.1321G>C (p.Val441Leu) | |
15 | g.98913138G= | CA2199287753 | IGF1R | c.1684G= (p.Val562=) n.1684G= c.1747G= (p.Val583=) c.775G= (p.Val259=) c.349G= (p.Val117=) c.1759G= (p.Val587=) c.1321G= (p.Val441=) | |
15 | g.98913138G>T | CA7752172 | IGF1R | c.1684G>T (p.Val562Leu) n.1684G>T c.1747G>T (p.Val583Leu) c.775G>T (p.Val259Leu) c.349G>T (p.Val117Leu) c.1759G>T (p.Val587Leu) c.1321G>T (p.Val441Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.98913139T>A | CA393678997 | IGF1R | c.1685T>A (p.Val562Glu) n.1685T>A c.1748T>A (p.Val583Glu) c.776T>A (p.Val259Glu) c.350T>A (p.Val117Glu) c.1760T>A (p.Val587Glu) c.1322T>A (p.Val441Glu) | |
15 | g.98913139T>C | CA393678996 | IGF1R | c.1685T>C (p.Val562Ala) n.1685T>C c.1748T>C (p.Val583Ala) c.776T>C (p.Val259Ala) c.350T>C (p.Val117Ala) c.1760T>C (p.Val587Ala) c.1322T>C (p.Val441Ala) | |
15 | g.98913139T>G | CA393678995 | IGF1R | c.1685T>G (p.Val562Gly) n.1685T>G c.1748T>G (p.Val583Gly) c.776T>G (p.Val259Gly) c.350T>G (p.Val117Gly) c.1760T>G (p.Val587Gly) c.1322T>G (p.Val441Gly) | |
15 | g.98913140G>A | CA7752174 | IGF1R | c.1686G>A (p.Val562=) n.1686G>A c.1749G>A (p.Val583=) c.777G>A (p.Val259=) c.351G>A (p.Val117=) c.1761G>A (p.Val587=) c.1323G>A (p.Val441=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.98913140G>C | CA492682513 | IGF1R | c.1686G>C (p.Val562=) n.1686G>C c.1749G>C (p.Val583=) c.777G>C (p.Val259=) c.351G>C (p.Val117=) c.1761G>C (p.Val587=) c.1323G>C (p.Val441=) | |
15 | g.98913140G= | CA2199287760 | IGF1R | c.1686G= (p.Val562=) n.1686G= c.1749G= (p.Val583=) c.777G= (p.Val259=) c.351G= (p.Val117=) c.1761G= (p.Val587=) c.1323G= (p.Val441=) | |
15 | g.98913140G>T | CA492682512 | IGF1R | c.1686G>T (p.Val562=) n.1686G>T c.1749G>T (p.Val583=) c.777G>T (p.Val259=) c.351G>T (p.Val117=) c.1761G>T (p.Val587=) c.1323G>T (p.Val441=) | |
15 | g.98913141G>A | CA275379406 | IGF1R | c.1687G>A (p.Glu563Lys) n.1687G>A c.1750G>A (p.Glu584Lys) c.778G>A (p.Glu260Lys) c.352G>A (p.Glu118Lys) c.1762G>A (p.Glu588Lys) c.1324G>A (p.Glu442Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.98913141G>C | CA393678998 | IGF1R | c.1687G>C (p.Glu563Gln) n.1687G>C c.1750G>C (p.Glu584Gln) c.778G>C (p.Glu260Gln) c.352G>C (p.Glu118Gln) c.1762G>C (p.Glu588Gln) c.1324G>C (p.Glu442Gln) | |
15 | g.98913141G= | CA2199287765 | IGF1R | c.1687G= (p.Glu563=) n.1687G= c.1750G= (p.Glu584=) c.778G= (p.Glu260=) c.352G= (p.Glu118=) c.1762G= (p.Glu588=) c.1324G= (p.Glu442=) | |
15 | g.98913141G>T | CA393678999 | IGF1R | c.1687G>T (p.Glu563Ter) n.1687G>T c.1750G>T (p.Glu584Ter) c.778G>T (p.Glu260Ter) c.352G>T (p.Glu118Ter) c.1762G>T (p.Glu588Ter) c.1324G>T (p.Glu442Ter) | |
15 | g.98913142A>C | CA393679000 | IGF1R | c.1688A>C (p.Glu563Ala) n.1688A>C c.1751A>C (p.Glu584Ala) c.779A>C (p.Glu260Ala) c.353A>C (p.Glu118Ala) c.1763A>C (p.Glu588Ala) c.1325A>C (p.Glu442Ala) | |
15 | g.98913142A>G | CA393679001 | IGF1R | c.1688A>G (p.Glu563Gly) n.1688A>G c.1751A>G (p.Glu584Gly) c.779A>G (p.Glu260Gly) c.353A>G (p.Glu118Gly) c.1763A>G (p.Glu588Gly) c.1325A>G (p.Glu442Gly) | |
15 | g.98913142A>T | CA393679002 | IGF1R | c.1688A>T (p.Glu563Val) n.1688A>T c.1751A>T (p.Glu584Val) c.779A>T (p.Glu260Val) c.353A>T (p.Glu118Val) c.1763A>T (p.Glu588Val) c.1325A>T (p.Glu442Val) | |
15 | g.98913143G>A | CA492682514 | IGF1R | c.1689G>A (p.Glu563=) n.1689G>A c.1752G>A (p.Glu584=) c.780G>A (p.Glu260=) c.354G>A (p.Glu118=) c.1764G>A (p.Glu588=) c.1326G>A (p.Glu442=) | dbSNP gnomAD v4 |
15 | g.98913143G>C | CA393679003 | IGF1R | c.1689G>C (p.Glu563Asp) n.1689G>C c.1752G>C (p.Glu584Asp) c.780G>C (p.Glu260Asp) c.354G>C (p.Glu118Asp) c.1764G>C (p.Glu588Asp) c.1326G>C (p.Glu442Asp) | |
15 | g.98913143G>T | CA393679004 | IGF1R | c.1689G>T (p.Glu563Asp) n.1689G>T c.1752G>T (p.Glu584Asp) c.780G>T (p.Glu260Asp) c.354G>T (p.Glu118Asp) c.1764G>T (p.Glu588Asp) c.1326G>T (p.Glu442Asp) |