| 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) |