Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.98913045C>ACA393678732IGF1Rc.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
15g.98913045C=CA2199287608IGF1Rc.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=)
15g.98913045C>GCA393678734IGF1Rc.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
15g.98913045C>TCA393678736IGF1Rc.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)
15g.98913046C>ACA393678738IGF1Rc.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
15g.98913046C=CA2199287610IGF1Rc.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=)
15g.98913046C>GCA393678741IGF1Rc.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)
15g.98913046C>TCA7752155IGF1Rc.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
15g.98913046_98913047delinsTTCA645591814IGF1Rc.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
15g.98913047C>ACA492682372IGF1Rc.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
15g.98913047C>GCA492682373IGF1Rc.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
15g.98913047C>TCA492682374IGF1Rc.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
15g.98913048T>ACA393678744IGF1Rc.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)
15g.98913048T>CCA393678746IGF1Rc.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)
15g.98913048T>GCA393678747IGF1Rc.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)
15g.98913049T>ACA393678748IGF1Rc.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)
15g.98913049T>CCA393678750IGF1Rc.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)
15g.98913049T>GCA393678751IGF1Rc.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)
15g.98913050T>ACA393678752IGF1Rc.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)
15g.98913050T>CCA492682375IGF1Rc.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=)
15g.98913050T>GCA393678753IGF1Rc.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)
15g.98913051A=CA2199287615IGF1Rc.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=)
15g.98913051A>CCA393678755IGF1Rc.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)
15g.98913051A>GCA393678756IGF1Rc.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
15g.98913051A>TCA393678757IGF1Rc.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)
15g.98913052dupCA2630564588IGF1Rc.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
15g.98913052A>CCA393678758IGF1Rc.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)
15g.98913052A>GCA393678759IGF1Rc.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)
15g.98913052A>TCA393678761IGF1Rc.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)
15g.98913053G>ACA492682376IGF1Rc.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=)
15g.98913053G>CCA393678763IGF1Rc.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)
15g.98913053G>TCA393678765IGF1Rc.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)
15g.98913054A=CA2199287622IGF1Rc.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=)
15g.98913054A>CCA393678767IGF1Rc.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
15g.98913054A>GCA393678768IGF1Rc.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
15g.98913054A>TCA393678770IGF1Rc.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)
15g.98913055A>CCA393678772IGF1Rc.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)
15g.98913055A>GCA393678774IGF1Rc.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)
15g.98913055A>TCA393678776IGF1Rc.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)
15g.98913056T>ACA393678777IGF1Rc.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)
15g.98913056T>CCA492682380IGF1Rc.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
15g.98913056T>GCA393678778IGF1Rc.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)
15g.98913057G>ACA393678781IGF1Rc.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)
15g.98913057G>CCA393678783IGF1Rc.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)
15g.98913057G>TCA393678786IGF1Rc.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)
15g.98913058T>ACA393678788IGF1Rc.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)
15g.98913058T>CCA393678790IGF1Rc.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)
15g.98913058T>GCA393678792IGF1Rc.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)
15g.98913059C>ACA492682384IGF1Rc.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
15g.98913059C>GCA492682386IGF1Rc.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=)
15g.98913059C>TCA492682388IGF1Rc.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=)
15g.98913061_98913062delCA2630564589IGF1Rc.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
15g.98913060A>CCA393678794IGF1Rc.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)
15g.98913060A>GCA393678795IGF1Rc.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)
15g.98913060A>TCA393678797IGF1Rc.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)
15g.98913061C>ACA393678800IGF1Rc.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)
15g.98913061C>GCA393678801IGF1Rc.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)
15g.98913061C>TCA393678803IGF1Rc.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)
15g.98913062A>CCA492682390IGF1Rc.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=)
15g.98913062A>GCA492682391IGF1Rc.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
15g.98913062A>TCA492682392IGF1Rc.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=)
15g.98913063G>ACA393678805IGF1Rc.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
15g.98913063G>CCA393678806IGF1Rc.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)
15g.98913063G>TCA393678804IGF1Rc.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)
15g.98913064A>CCA393678810IGF1Rc.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)
15g.98913064A>GCA393678808IGF1Rc.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
15g.98913064A>TCA393678812IGF1Rc.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
15g.98913065G>ACA492682393IGF1Rc.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=)
15g.98913065G>CCA393678813IGF1Rc.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)
15g.98913065G>TCA393678815IGF1Rc.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)
15g.98913066T>ACA393678817IGF1Rc.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)
15g.98913066T>CCA393678818IGF1Rc.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)
15g.98913066T>GCA393678820IGF1Rc.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)
15g.98913067A>CCA393678823IGF1Rc.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)
15g.98913067A>GCA393678825IGF1Rc.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)
15g.98913067A>TCA393678827IGF1Rc.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)
15g.98913068T>ACA393678828IGF1Rc.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)
15g.98913068T>CCA275379307IGF1Rc.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
15g.98913068T>GCA393678830IGF1Rc.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)
15g.98913068T=CA2199287625IGF1Rc.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=)
15g.98913069G>ACA393678832IGF1Rc.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
15g.98913069G>CCA393678834IGF1Rc.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)
15g.98913069G>TCA393678836IGF1Rc.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)
15g.98913070A>CCA393678841IGF1Rc.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)
15g.98913070A>GCA393678838IGF1Rc.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)
15g.98913070A>TCA393678840IGF1Rc.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)
15g.98913071T>ACA393678842IGF1Rc.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)
15g.98913071T>CCA492682404IGF1Rc.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
15g.98913071T>GCA393678843IGF1Rc.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)
15g.98913072G>ACA393678844IGF1Rc.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)
15g.98913072G>CCA393678845IGF1Rc.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)
15g.98913072G>TCA393678846IGF1Rc.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)
15g.98913074delCA2534232194IGF1Rc.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?)
15g.98913073G>ACA393678847IGF1Rc.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)
15g.98913073G>CCA393678848IGF1Rc.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)
15g.98913073G>TCA393678849IGF1Rc.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
15g.98913074G>ACA492682409IGF1Rc.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
15g.98913074G>CCA492682410IGF1Rc.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=)
15g.98913074G>TCA492682412IGF1Rc.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=)
15g.98913075C>ACA393678850IGF1Rc.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)
15g.98913075C>GCA393678851IGF1Rc.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)
15g.98913075C>TCA393678852IGF1Rc.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)
15g.98913076A>CCA393678855IGF1Rc.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)
15g.98913076A>GCA393678854IGF1Rc.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)
15g.98913076A>TCA393678853IGF1Rc.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)
15g.98913077G>ACA492682421IGF1Rc.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=)
15g.98913077G>CCA393678856IGF1Rc.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)
15g.98913077G>TCA393678857IGF1Rc.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)
15g.98913078G>ACA393678858IGF1Rc.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)
15g.98913078G>CCA393678859IGF1Rc.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)
15g.98913078G>TCA393678860IGF1Rc.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)
15g.98913079A=CA2199287629IGF1Rc.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=)
15g.98913079A>CCA393678861IGF1Rc.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)
15g.98913079A>GCA275379311IGF1Rc.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
15g.98913079A>TCA393678862IGF1Rc.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)
15g.98913080T>ACA393678863IGF1Rc.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)
15g.98913080T>CCA492682425IGF1Rc.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
15g.98913080T>GCA393678864IGF1Rc.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)
15g.98913081G>ACA393678865IGF1Rc.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
15g.98913081G>CCA393678866IGF1Rc.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)
15g.98913081G>TCA393678867IGF1Rc.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)
15g.98913082C>ACA393678870IGF1Rc.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)
15g.98913082C>GCA393678868IGF1Rc.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)
15g.98913082C>TCA393678869IGF1Rc.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
15g.98913083C>ACA492682429IGF1Rc.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=)
15g.98913083C=CA2199287630IGF1Rc.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=)
15g.98913083C>GCA492682431IGF1Rc.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
15g.98913083C>TCA492682434IGF1Rc.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=)
15g.98913084T>ACA393678871IGF1Rc.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)
15g.98913084T>CCA393678872IGF1Rc.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
15g.98913084T>GCA393678873IGF1Rc.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)
15g.98913085G>ACA393678874IGF1Rc.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)
15g.98913085G>CCA393678875IGF1Rc.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
15g.98913085G=CA2199287633IGF1Rc.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=)
15g.98913085G>TCA393678876IGF1Rc.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)
15g.98913086C>ACA393678877IGF1Rc.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
15g.98913086C=CA2199287634IGF1Rc.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=)
15g.98913086C>GCA393678878IGF1Rc.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)
15g.98913086C>TCA7752156IGF1Rc.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
15g.98913087G>ACA7752157IGF1Rc.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
15g.98913087G>CCA393678879IGF1Rc.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)
15g.98913087G=CA2199287636IGF1Rc.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=)
15g.98913087G>TCA393678880IGF1Rc.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)
15g.98913088G>ACA393678883IGF1Rc.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)
15g.98913088G>CCA393678882IGF1Rc.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)
15g.98913088G>TCA393678881IGF1Rc.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
15g.98913089C>ACA492682444IGF1Rc.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=)
15g.98913089C>GCA492682445IGF1Rc.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
15g.98913089C>TCA492682447IGF1Rc.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
15g.98913090T>ACA393678884IGF1Rc.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
15g.98913090T>CCA393678886IGF1Rc.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)
15g.98913090T>GCA393678885IGF1Rc.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)
15g.98913090T=CA2199287639IGF1Rc.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=)
15g.98913091C>ACA393678887IGF1Rc.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)
15g.98913091C>GCA393678888IGF1Rc.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)
15g.98913091C>TCA393678889IGF1Rc.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
15g.98913092C>ACA492682450IGF1Rc.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=)
15g.98913092C=CA2199287641IGF1Rc.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=)
15g.98913092C>GCA492682451IGF1Rc.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=)
15g.98913092C>TCA7752158IGF1Rc.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
15g.98913093A=CA2199287649IGF1Rc.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=)
15g.98913093A>CCA7752159IGF1Rc.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
15g.98913093A>GCA393678890IGF1Rc.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)
15g.98913093A>TCA393678891IGF1Rc.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)
15g.98913094A=CA2199287652IGF1Rc.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=)
15g.98913094A>CCA393678892IGF1Rc.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)
15g.98913094A>GCA393678893IGF1Rc.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)
15g.98913094A>TCA393678894IGF1Rc.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
15g.98913095C>ACA393678895IGF1Rc.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)
15g.98913095C>GCA393678896IGF1Rc.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)
15g.98913095C>TCA492682455IGF1Rc.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=)
15g.98913096A>CCA393678899IGF1Rc.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)
15g.98913096A>GCA393678897IGF1Rc.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)
15g.98913096A>TCA393678898IGF1Rc.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)
15g.98913097G>ACA393678900IGF1Rc.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)
15g.98913097G>CCA393678901IGF1Rc.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
15g.98913097G>TCA393678902IGF1Rc.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)
15g.98913098C>ACA393678903IGF1Rc.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)
15g.98913098C=CA2199287656IGF1Rc.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=)
15g.98913098C>GCA393678904IGF1Rc.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)
15g.98913098C>TCA492682460IGF1Rc.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
15g.98913099T>ACA393678905IGF1Rc.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)
15g.98913099T>CCA393678906IGF1Rc.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)
15g.98913099T>GCA393678907IGF1Rc.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)
15g.98913100G>ACA393678908IGF1Rc.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)
15g.98913100G>CCA393678909IGF1Rc.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)
15g.98913100G>TCA393678910IGF1Rc.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)
15g.98913101G>ACA393678912IGF1Rc.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)
15g.98913101G>CCA393678913IGF1Rc.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)
15g.98913101G>TCA393678911IGF1Rc.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)
15g.98913102A=CA2199287659IGF1Rc.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=)
15g.98913102A>CCA393678914IGF1Rc.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)
15g.98913102A>GCA393678915IGF1Rc.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
15g.98913102A>TCA393678916IGF1Rc.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)
15g.98913103delCA2504279107IGF1Rc.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)
15g.98913103A=CA2199287665IGF1Rc.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=)
15g.98913103A>CCA393678917IGF1Rc.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
15g.98913103A>GCA393678918IGF1Rc.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)
15g.98913103A>TCA393678919IGF1Rc.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)
15g.98913104C>ACA393678921IGF1Rc.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)
15g.98913104C>GCA393678920IGF1Rc.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)
15g.98913104C>TCA492682470IGF1Rc.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=)
15g.98913105A=CA2199287670IGF1Rc.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=)
15g.98913105A>CCA393678922IGF1Rc.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
15g.98913105A>GCA393678923IGF1Rc.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
15g.98913105A>TCA393678924IGF1Rc.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)
15g.98913105_98913106insGCA2539147052IGF1Rc.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?)
15g.98913106T>ACA393678925IGF1Rc.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)
15g.98913106T>CCA275379354IGF1Rc.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
15g.98913106T>GCA393678926IGF1Rc.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)
15g.98913106T=CA2199287672IGF1Rc.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=)
15g.98913107G>ACA393678927IGF1Rc.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)
15g.98913107G>CCA393678929IGF1Rc.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)
15g.98913107G>TCA393678928IGF1Rc.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)
15g.98913108delCA2731815857IGF1Rc.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
15g.98913108G>ACA393678930IGF1Rc.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)
15g.98913108G>CCA393678931IGF1Rc.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)
15g.98913108G>TCA393678932IGF1Rc.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)
15g.98913109T>ACA393678933IGF1Rc.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)
15g.98913109T>CCA393678934IGF1Rc.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)
15g.98913109T>GCA393678935IGF1Rc.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
15g.98913110G>ACA492682474IGF1Rc.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=)
15g.98913110G>CCA492682475IGF1Rc.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=)
15g.98913110G>TCA492682477IGF1Rc.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=)
15g.98913119_98913142dupCA2630564590IGF1Rc.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
15g.98913111G>ACA393678936IGF1Rc.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)
15g.98913111G>CCA393678937IGF1Rc.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)
15g.98913111G>TCA393678938IGF1Rc.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)
15g.98913112A>CCA393678939IGF1Rc.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)
15g.98913112A>GCA393678940IGF1Rc.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)
15g.98913112A>TCA393678941IGF1Rc.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)
15g.98913113C>ACA393678942IGF1Rc.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)
15g.98913113C=CA2199287679IGF1Rc.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=)
15g.98913113C>GCA393678943IGF1Rc.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
15g.98913113C>TCA7752160IGF1Rc.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
15g.98913114G>ACA7752161IGF1Rc.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
15g.98913114G>CCA393678945IGF1Rc.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)
15g.98913114G=CA2199287684IGF1Rc.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=)
15g.98913114G>TCA393678944IGF1Rc.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)
15g.98913115T>ACA393678946IGF1Rc.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)
15g.98913115T>CCA393678948IGF1Rc.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)
15g.98913115T>GCA393678947IGF1Rc.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
15g.98913116G>ACA492682480IGF1Rc.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=)
15g.98913116G>CCA7752162IGF1Rc.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
15g.98913116G=CA2199287688IGF1Rc.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=)
15g.98913116G>TCA492682481IGF1Rc.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=)
15g.98913117G>ACA393678949IGF1Rc.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)
15g.98913117G>CCA393678950IGF1Rc.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)
15g.98913117G>TCA393678951IGF1Rc.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)
15g.98913118A>CCA393678952IGF1Rc.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
15g.98913118A>GCA393678953IGF1Rc.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
15g.98913118A>TCA393678954IGF1Rc.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
15g.98913119C>ACA393678955IGF1Rc.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)
15g.98913119C>GCA393678956IGF1Rc.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)
15g.98913119C>TCA492682486IGF1Rc.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
15g.98913120C>ACA393678957IGF1Rc.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)
15g.98913120C>GCA393678958IGF1Rc.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)
15g.98913120C>TCA393678959IGF1Rc.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
15g.98913121T>ACA393678960IGF1Rc.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)
15g.98913121T>CCA7752163IGF1Rc.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
15g.98913121T>GCA393678961IGF1Rc.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)
15g.98913121T=CA2199287691IGF1Rc.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=)
15g.98913122C>ACA492682490IGF1Rc.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
15g.98913122C=CA2199287692IGF1Rc.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=)
15g.98913122C>GCA7752164IGF1Rc.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
15g.98913122C>TCA492682491IGF1Rc.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
15g.98913123C>ACA393678962IGF1Rc.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)
15g.98913123C=CA2199287696IGF1Rc.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=)
15g.98913123C>GCA7752165IGF1Rc.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
15g.98913123C>TCA393678963IGF1Rc.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
15g.98913124C>ACA393678964IGF1Rc.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)
15g.98913124C=CA2199287702IGF1Rc.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=)
15g.98913124C>GCA393678965IGF1Rc.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
15g.98913124C>TCA7752166IGF1Rc.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
15g.98913125G>ACA7752167IGF1Rc.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
15g.98913125G>CCA492682498IGF1Rc.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
15g.98913125G=CA2199287707IGF1Rc.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=)
15g.98913125G>TCA492682499IGF1Rc.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=)
15g.98913126C>ACA393678966IGF1Rc.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)
15g.98913126C>GCA393678967IGF1Rc.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)
15g.98913126C>TCA393678968IGF1Rc.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
15g.98913127C>ACA393678969IGF1Rc.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)
15g.98913127C=CA2199287714IGF1Rc.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=)
15g.98913127C>GCA393678970IGF1Rc.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)
15g.98913127C>TCA393678971IGF1Rc.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
15g.98913128C>ACA492682502IGF1Rc.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=)
15g.98913128C>GCA492682503IGF1Rc.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=)
15g.98913128C>TCA492682505IGF1Rc.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=)
15g.98913129A>CCA393678972IGF1Rc.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)
15g.98913129A>GCA393678974IGF1Rc.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)
15g.98913129A>TCA393678973IGF1Rc.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)
15g.98913130A>CCA393678975IGF1Rc.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)
15g.98913130A>GCA393678976IGF1Rc.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)
15g.98913130A>TCA393678977IGF1Rc.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)
15g.98913131C>ACA393678978IGF1Rc.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
15g.98913131C=CA2199287720IGF1Rc.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=)
15g.98913131C>GCA7752168IGF1Rc.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
15g.98913131C>TCA492682508IGF1Rc.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=)
15g.98913132A=CA2199287723IGF1Rc.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=)
15g.98913132A>CCA393678979IGF1Rc.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)
15g.98913132A>GCA393678980IGF1Rc.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
15g.98913132A>TCA393678981IGF1Rc.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)
15g.98913133A=CA2199287728IGF1Rc.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=)
15g.98913133A>CCA393678982IGF1Rc.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)
15g.98913133A>GCA7752169IGF1Rc.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
15g.98913133A>TCA393678983IGF1Rc.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)
15g.98913134G>ACA7752170IGF1Rc.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
15g.98913134G>CCA393678985IGF1Rc.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
15g.98913134G=CA2199287735IGF1Rc.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=)
15g.98913134G>TCA393678984IGF1Rc.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)
15g.98913135G>ACA393678986IGF1Rc.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)
15g.98913135G>CCA393678987IGF1Rc.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)
15g.98913135G>TCA393678988IGF1Rc.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)
15g.98913136A>CCA393678989IGF1Rc.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)
15g.98913136A>GCA393678990IGF1Rc.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)
15g.98913136A>TCA393678991IGF1Rc.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)
15g.98913137C>ACA393678992IGF1Rc.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
15g.98913137C=CA2199287746IGF1Rc.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=)
15g.98913137C>GCA393678993IGF1Rc.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)
15g.98913137C>TCA7752171IGF1Rc.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
15g.98913138G>ACA7752173IGF1Rc.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
15g.98913138G>CCA393678994IGF1Rc.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)
15g.98913138G=CA2199287753IGF1Rc.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=)
15g.98913138G>TCA7752172IGF1Rc.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
15g.98913139T>ACA393678997IGF1Rc.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)
15g.98913139T>CCA393678996IGF1Rc.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)
15g.98913139T>GCA393678995IGF1Rc.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)
15g.98913140G>ACA7752174IGF1Rc.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
15g.98913140G>CCA492682513IGF1Rc.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=)
15g.98913140G=CA2199287760IGF1Rc.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=)
15g.98913140G>TCA492682512IGF1Rc.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=)
15g.98913141G>ACA275379406IGF1Rc.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
15g.98913141G>CCA393678998IGF1Rc.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)
15g.98913141G=CA2199287765IGF1Rc.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=)
15g.98913141G>TCA393678999IGF1Rc.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)
15g.98913142A>CCA393679000IGF1Rc.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)
15g.98913142A>GCA393679001IGF1Rc.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)
15g.98913142A>TCA393679002IGF1Rc.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)
15g.98913143G>ACA492682514IGF1Rc.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
15g.98913143G>CCA393679003IGF1Rc.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)
15g.98913143G>TCA393679004IGF1Rc.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)
15g.98913144C>ACA393679005IGF1Rc.1690C>A (p.Pro564Thr)
n.1690C>A
c.1753C>A (p.Pro585Thr)
c.781C>A (p.Pro261Thr)
c.355C>A (p.Pro119Thr)
c.1765C>A (p.Pro589Thr)
c.1327C>A (p.Pro443Thr)
dbSNP
15g.98913144C>GCA393679007IGF1Rc.1690C>G (p.Pro564Ala)
n.1690C>G
c.1753C>G (p.Pro585Ala)
c.781C>G (p.Pro261Ala)
c.355C>G (p.Pro119Ala)
c.1765C>G (p.Pro589Ala)
c.1327C>G (p.Pro443Ala)
15g.98913144C>TCA393679006IGF1Rc.1690C>T (p.Pro564Ser)
n.1690C>T
c.1753C>T (p.Pro585Ser)
c.781C>T (p.Pro261Ser)
c.355C>T (p.Pro119Ser)
c.1765C>T (p.Pro589Ser)
c.1327C>T (p.Pro443Ser)
ClinVar
15g.98913145C>ACA393679008IGF1Rc.1691C>A (p.Pro564His)
n.1691C>A
c.1754C>A (p.Pro585His)
c.782C>A (p.Pro261His)
c.356C>A (p.Pro119His)
c.1766C>A (p.Pro589His)
c.1328C>A (p.Pro443His)
dbSNP gnomAD v2 gnomAD v4
15g.98913145C=CA2199287768IGF1Rc.1691C= (p.Pro564=)
n.1691C=
c.1754C= (p.Pro585=)
c.782C= (p.Pro261=)
c.356C= (p.Pro119=)
c.1766C= (p.Pro589=)
c.1328C= (p.Pro443=)
15g.98913145C>GCA393679009IGF1Rc.1691C>G (p.Pro564Arg)
n.1691C>G
c.1754C>G (p.Pro585Arg)
c.782C>G (p.Pro261Arg)
c.356C>G (p.Pro119Arg)
c.1766C>G (p.Pro589Arg)
c.1328C>G (p.Pro443Arg)
15g.98913145C>TCA393679010IGF1Rc.1691C>T (p.Pro564Leu)
n.1691C>T
c.1754C>T (p.Pro585Leu)
c.782C>T (p.Pro261Leu)
c.356C>T (p.Pro119Leu)
c.1766C>T (p.Pro589Leu)
c.1328C>T (p.Pro443Leu)
dbSNP gnomAD v4

Number of alleles fetched