Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.150750010T>ACA342326734CTSSc.789A>T (p.Arg263Ser)
c.561A>T (p.Arg187Ser)
c.516A>T (p.Arg172Ser)
c.639A>T (p.Arg213Ser)
c.627+1771A>T (n.627+1771A>T)
c.612A>T (p.Arg204Ser)
c.82A>T
n.566+1771A>T
c.216A>T (p.Arg72Ser)
1g.150750010T>CCA420697753CTSSc.789A>G (p.Arg263=)
c.561A>G (p.Arg187=)
c.516A>G (p.Arg172=)
c.639A>G (p.Arg213=)
c.627+1771A>G (n.627+1771A>G)
c.612A>G (p.Arg204=)
c.82A>G
n.566+1771A>G
c.216A>G (p.Arg72=)
1g.150750010T>GCA342326735CTSSc.789A>C (p.Arg263Ser)
c.561A>C (p.Arg187Ser)
c.516A>C (p.Arg172Ser)
c.639A>C (p.Arg213Ser)
c.627+1771A>C (n.627+1771A>C)
c.612A>C (p.Arg204Ser)
c.82A>C
n.566+1771A>C
c.216A>C (p.Arg72Ser)
1g.150750011C>ACA342326736CTSSc.788G>T (p.Arg263Ile)
c.560G>T (p.Arg187Ile)
c.515G>T (p.Arg172Ile)
c.638G>T (p.Arg213Ile)
c.627+1770G>T (n.627+1770G>T)
c.611G>T (p.Arg204Ile)
c.81G>T
n.566+1770G>T
c.215G>T (p.Arg72Ile)
1g.150750011C=CA2479293013CTSSc.788G= (p.Arg263=)
c.560G= (p.Arg187=)
c.515G= (p.Arg172=)
c.638G= (p.Arg213=)
c.627+1770G= (n.627+1770G=)
c.611G= (p.Arg204=)
c.81G=
n.566+1770G=
c.215G= (p.Arg72=)
1g.150750011C>GCA342326737CTSSc.788G>C (p.Arg263Thr)
c.560G>C (p.Arg187Thr)
c.515G>C (p.Arg172Thr)
c.638G>C (p.Arg213Thr)
c.627+1770G>C (n.627+1770G>C)
c.611G>C (p.Arg204Thr)
c.81G>C
n.566+1770G>C
c.215G>C (p.Arg72Thr)
1g.150750011C>TCA342326738CTSSc.788G>A (p.Arg263Lys)
c.560G>A (p.Arg187Lys)
c.515G>A (p.Arg172Lys)
c.638G>A (p.Arg213Lys)
c.627+1770G>A (n.627+1770G>A)
c.611G>A (p.Arg204Lys)
c.81G>A
n.566+1770G>A
c.215G>A (p.Arg72Lys)
dbSNP
1g.150750012T>ACA342326742CTSSc.787A>T (p.Arg263Ter)
c.559A>T (p.Arg187Ter)
c.514A>T (p.Arg172Ter)
c.637A>T (p.Arg213Ter)
c.627+1769A>T (n.627+1769A>T)
c.610A>T (p.Arg204Ter)
c.80A>T
n.566+1769A>T
c.214A>T (p.Arg72Ter)
1g.150750012T>CCA342326740CTSSc.787A>G (p.Arg263Gly)
c.559A>G (p.Arg187Gly)
c.514A>G (p.Arg172Gly)
c.637A>G (p.Arg213Gly)
c.627+1769A>G (n.627+1769A>G)
c.610A>G (p.Arg204Gly)
c.80A>G
n.566+1769A>G
c.214A>G (p.Arg72Gly)
1g.150750012T>GCA420697757CTSSc.787A>C (p.Arg263=)
c.559A>C (p.Arg187=)
c.514A>C (p.Arg172=)
c.637A>C (p.Arg213=)
c.627+1769A>C (n.627+1769A>C)
c.610A>C (p.Arg204=)
c.80A>C
n.566+1769A>C
c.214A>C (p.Arg72=)
1g.150750013G>ACA420697760CTSSc.786C>T (p.Tyr262=)
c.558C>T (p.Tyr186=)
c.513C>T (p.Tyr171=)
c.636C>T (p.Tyr212=)
c.627+1768C>T (n.627+1768C>T)
c.609C>T (p.Tyr203=)
c.79C>T
n.566+1768C>T
c.213C>T (p.Tyr71=)
1g.150750013G>CCA342326749CTSSc.786C>G (p.Tyr262Ter)
c.558C>G (p.Tyr186Ter)
c.513C>G (p.Tyr171Ter)
c.636C>G (p.Tyr212Ter)
c.627+1768C>G (n.627+1768C>G)
c.609C>G (p.Tyr203Ter)
c.79C>G
n.566+1768C>G
c.213C>G (p.Tyr71Ter)
1g.150750013G>TCA342326753CTSSc.786C>A (p.Tyr262Ter)
c.558C>A (p.Tyr186Ter)
c.513C>A (p.Tyr171Ter)
c.636C>A (p.Tyr212Ter)
c.627+1768C>A (n.627+1768C>A)
c.609C>A (p.Tyr203Ter)
c.79C>A
n.566+1768C>A
c.213C>A (p.Tyr71Ter)
gnomAD v4
1g.150750014T>ACA342326756CTSSc.785A>T (p.Tyr262Phe)
c.557A>T (p.Tyr186Phe)
c.512A>T (p.Tyr171Phe)
c.635A>T (p.Tyr212Phe)
c.627+1767A>T (n.627+1767A>T)
c.608A>T (p.Tyr203Phe)
c.78A>T
n.566+1767A>T
c.212A>T (p.Tyr71Phe)
1g.150750014T>CCA342326757CTSSc.785A>G (p.Tyr262Cys)
c.557A>G (p.Tyr186Cys)
c.512A>G (p.Tyr171Cys)
c.635A>G (p.Tyr212Cys)
c.627+1767A>G (n.627+1767A>G)
c.608A>G (p.Tyr203Cys)
c.78A>G
n.566+1767A>G
c.212A>G (p.Tyr71Cys)
1g.150750014T>GCA342326759CTSSc.785A>C (p.Tyr262Ser)
c.557A>C (p.Tyr186Ser)
c.512A>C (p.Tyr171Ser)
c.635A>C (p.Tyr212Ser)
c.627+1767A>C (n.627+1767A>C)
c.608A>C (p.Tyr203Ser)
c.78A>C
n.566+1767A>C
c.212A>C (p.Tyr71Ser)
1g.150750015A>CCA342326762CTSSc.784T>G (p.Tyr262Asp)
c.556T>G (p.Tyr186Asp)
c.511T>G (p.Tyr171Asp)
c.634T>G (p.Tyr212Asp)
c.627+1766T>G (n.627+1766T>G)
c.607T>G (p.Tyr203Asp)
c.77T>G
n.566+1766T>G
c.211T>G (p.Tyr71Asp)
1g.150750015A>GCA342326765CTSSc.784T>C (p.Tyr262His)
c.556T>C (p.Tyr186His)
c.511T>C (p.Tyr171His)
c.634T>C (p.Tyr212His)
c.627+1766T>C (n.627+1766T>C)
c.607T>C (p.Tyr203His)
c.77T>C
n.566+1766T>C
c.211T>C (p.Tyr71His)
1g.150750015A>TCA342326768CTSSc.784T>A (p.Tyr262Asn)
c.556T>A (p.Tyr186Asn)
c.511T>A (p.Tyr171Asn)
c.634T>A (p.Tyr212Asn)
c.627+1766T>A (n.627+1766T>A)
c.607T>A (p.Tyr203Asn)
c.77T>A
n.566+1766T>A
c.211T>A (p.Tyr71Asn)
1g.150750016_150750027delCA2506971728CTSSc.773_784del (p.Ser258_Leu261del)
c.545_556del (p.Ser182_Leu185del)
c.500_511del (p.Ser167_Leu170del)
c.623_634del (p.Ser208_Leu211del)
c.627+1755_627+1766del (n.627+1755_627+1766del)
c.596_607del (p.Ser199_Leu202del)
c.66_77del
n.566+1755_566+1766del
c.200_211del (p.Ser67_Leu70del)
1g.150750016G>ACA420697763CTSSc.783C>T (p.Leu261=)
c.555C>T (p.Leu185=)
c.510C>T (p.Leu170=)
c.633C>T (p.Leu211=)
c.627+1765C>T (n.627+1765C>T)
c.606C>T (p.Leu202=)
c.76C>T
n.566+1765C>T
c.210C>T (p.Leu70=)
1g.150750016G>CCA420697764CTSSc.783C>G (p.Leu261=)
c.555C>G (p.Leu185=)
c.510C>G (p.Leu170=)
c.633C>G (p.Leu211=)
c.627+1765C>G (n.627+1765C>G)
c.606C>G (p.Leu202=)
c.76C>G
n.566+1765C>G
c.210C>G (p.Leu70=)
1g.150750016G>TCA420697765CTSSc.783C>A (p.Leu261=)
c.555C>A (p.Leu185=)
c.510C>A (p.Leu170=)
c.633C>A (p.Leu211=)
c.627+1765C>A (n.627+1765C>A)
c.606C>A (p.Leu202=)
c.76C>A
n.566+1765C>A
c.210C>A (p.Leu70=)
1g.150750017A>CCA342326772CTSSc.782T>G (p.Leu261Arg)
c.554T>G (p.Leu185Arg)
c.509T>G (p.Leu170Arg)
c.632T>G (p.Leu211Arg)
c.627+1764T>G (n.627+1764T>G)
c.605T>G (p.Leu202Arg)
c.75T>G
n.566+1764T>G
c.209T>G (p.Leu70Arg)
1g.150750017A>GCA342326775CTSSc.782T>C (p.Leu261Pro)
c.554T>C (p.Leu185Pro)
c.509T>C (p.Leu170Pro)
c.632T>C (p.Leu211Pro)
c.627+1764T>C (n.627+1764T>C)
c.605T>C (p.Leu202Pro)
c.75T>C
n.566+1764T>C
c.209T>C (p.Leu70Pro)
1g.150750017A>TCA342326778CTSSc.782T>A (p.Leu261His)
c.554T>A (p.Leu185His)
c.509T>A (p.Leu170His)
c.632T>A (p.Leu211His)
c.627+1764T>A (n.627+1764T>A)
c.605T>A (p.Leu202His)
c.75T>A
n.566+1764T>A
c.209T>A (p.Leu70His)
1g.150750018G>ACA342326780CTSSc.781C>T (p.Leu261Phe)
c.553C>T (p.Leu185Phe)
c.508C>T (p.Leu170Phe)
c.631C>T (p.Leu211Phe)
c.627+1763C>T (n.627+1763C>T)
c.604C>T (p.Leu202Phe)
c.74C>T
n.566+1763C>T
c.208C>T (p.Leu70Phe)
dbSNP gnomAD v4
1g.150750018G>CCA342326781CTSSc.781C>G (p.Leu261Val)
c.553C>G (p.Leu185Val)
c.508C>G (p.Leu170Val)
c.631C>G (p.Leu211Val)
c.627+1763C>G (n.627+1763C>G)
c.604C>G (p.Leu202Val)
c.74C>G
n.566+1763C>G
c.208C>G (p.Leu70Val)
1g.150750018G=CA2479293014CTSSc.781C= (p.Leu261=)
c.553C= (p.Leu185=)
c.508C= (p.Leu170=)
c.631C= (p.Leu211=)
c.627+1763C= (n.627+1763C=)
c.604C= (p.Leu202=)
c.74C=
n.566+1763C=
c.208C= (p.Leu70=)
1g.150750018G>TCA342326784CTSSc.781C>A (p.Leu261Ile)
c.553C>A (p.Leu185Ile)
c.508C>A (p.Leu170Ile)
c.631C>A (p.Leu211Ile)
c.627+1763C>A (n.627+1763C>A)
c.604C>A (p.Leu202Ile)
c.74C>A
n.566+1763C>A
c.208C>A (p.Leu70Ile)
1g.150750019G>ACA420697766CTSSc.780C>T (p.Phe260=)
c.552C>T (p.Phe184=)
c.507C>T (p.Phe169=)
c.630C>T (p.Phe210=)
c.627+1762C>T (n.627+1762C>T)
c.603C>T (p.Phe201=)
c.73C>T
n.566+1762C>T
c.207C>T (p.Phe69=)
COSMIC
1g.150750019G>CCA342326790CTSSc.780C>G (p.Phe260Leu)
c.552C>G (p.Phe184Leu)
c.507C>G (p.Phe169Leu)
c.630C>G (p.Phe210Leu)
c.627+1762C>G (n.627+1762C>G)
c.603C>G (p.Phe201Leu)
c.73C>G
n.566+1762C>G
c.207C>G (p.Phe69Leu)
1g.150750019G>TCA342326788CTSSc.780C>A (p.Phe260Leu)
c.552C>A (p.Phe184Leu)
c.507C>A (p.Phe169Leu)
c.630C>A (p.Phe210Leu)
c.627+1762C>A (n.627+1762C>A)
c.603C>A (p.Phe201Leu)
c.73C>A
n.566+1762C>A
c.207C>A (p.Phe69Leu)
gnomAD v4
1g.150750020A>CCA342326792CTSSc.779T>G (p.Phe260Cys)
c.551T>G (p.Phe184Cys)
c.506T>G (p.Phe169Cys)
c.629T>G (p.Phe210Cys)
c.627+1761T>G (n.627+1761T>G)
c.602T>G (p.Phe201Cys)
c.72T>G
n.566+1761T>G
c.206T>G (p.Phe69Cys)
1g.150750020A>GCA342326794CTSSc.779T>C (p.Phe260Ser)
c.551T>C (p.Phe184Ser)
c.506T>C (p.Phe169Ser)
c.629T>C (p.Phe210Ser)
c.627+1761T>C (n.627+1761T>C)
c.602T>C (p.Phe201Ser)
c.72T>C
n.566+1761T>C
c.206T>C (p.Phe69Ser)
1g.150750020A>TCA342326796CTSSc.779T>A (p.Phe260Tyr)
c.551T>A (p.Phe184Tyr)
c.506T>A (p.Phe169Tyr)
c.629T>A (p.Phe210Tyr)
c.627+1761T>A (n.627+1761T>A)
c.602T>A (p.Phe201Tyr)
c.72T>A
n.566+1761T>A
c.206T>A (p.Phe69Tyr)
1g.150750021A=CA2479293015CTSSc.778T= (p.Phe260=)
c.550T= (p.Phe184=)
c.505T= (p.Phe169=)
c.628T= (p.Phe210=)
c.627+1760T= (n.627+1760T=)
c.601T= (p.Phe201=)
c.71T=
n.566+1760T=
c.205T= (p.Phe69=)
1g.150750021A>CCA342326798CTSSc.778T>G (p.Phe260Val)
c.550T>G (p.Phe184Val)
c.505T>G (p.Phe169Val)
c.628T>G (p.Phe210Val)
c.627+1760T>G (n.627+1760T>G)
c.601T>G (p.Phe201Val)
c.71T>G
n.566+1760T>G
c.205T>G (p.Phe69Val)
dbSNP gnomAD v4
1g.150750021A>GCA342326801CTSSc.778T>C (p.Phe260Leu)
c.550T>C (p.Phe184Leu)
c.505T>C (p.Phe169Leu)
c.628T>C (p.Phe210Leu)
c.627+1760T>C (n.627+1760T>C)
c.601T>C (p.Phe201Leu)
c.71T>C
n.566+1760T>C
c.205T>C (p.Phe69Leu)
1g.150750021A>TCA342326803CTSSc.778T>A (p.Phe260Ile)
c.550T>A (p.Phe184Ile)
c.505T>A (p.Phe169Ile)
c.628T>A (p.Phe210Ile)
c.627+1760T>A (n.627+1760T>A)
c.601T>A (p.Phe201Ile)
c.71T>A
n.566+1760T>A
c.205T>A (p.Phe69Ile)
1g.150750022G>ACA420697767CTSSc.777C>T (p.Phe259=)
c.549C>T (p.Phe183=)
c.504C>T (p.Phe168=)
c.627C>T (p.Phe209=)
c.627+1759C>T (n.627+1759C>T)
c.600C>T (p.Phe200=)
c.70C>T
n.566+1759C>T
c.204C>T (p.Phe68=)
1g.150750022G>CCA342326808CTSSc.777C>G (p.Phe259Leu)
c.549C>G (p.Phe183Leu)
c.504C>G (p.Phe168Leu)
c.627C>G (p.Phe209Leu)
c.627+1759C>G (n.627+1759C>G)
c.600C>G (p.Phe200Leu)
c.70C>G
n.566+1759C>G
c.204C>G (p.Phe68Leu)
1g.150750022G>TCA342326806CTSSc.777C>A (p.Phe259Leu)
c.549C>A (p.Phe183Leu)
c.504C>A (p.Phe168Leu)
c.627C>A (p.Phe209Leu)
c.627+1759C>A (n.627+1759C>A)
c.600C>A (p.Phe200Leu)
c.70C>A
n.566+1759C>A
c.204C>A (p.Phe68Leu)
1g.150750023A>CCA342326811CTSSc.776T>G (p.Phe259Cys)
c.548T>G (p.Phe183Cys)
c.503T>G (p.Phe168Cys)
c.626T>G (p.Phe209Cys)
c.627+1758T>G (n.627+1758T>G)
c.599T>G (p.Phe200Cys)
c.69T>G
n.566+1758T>G
c.203T>G (p.Phe68Cys)
1g.150750023A>GCA342326814CTSSc.776T>C (p.Phe259Ser)
c.548T>C (p.Phe183Ser)
c.503T>C (p.Phe168Ser)
c.626T>C (p.Phe209Ser)
c.627+1758T>C (n.627+1758T>C)
c.599T>C (p.Phe200Ser)
c.69T>C
n.566+1758T>C
c.203T>C (p.Phe68Ser)
1g.150750023A>TCA342326825CTSSc.776T>A (p.Phe259Tyr)
c.548T>A (p.Phe183Tyr)
c.503T>A (p.Phe168Tyr)
c.626T>A (p.Phe209Tyr)
c.627+1758T>A (n.627+1758T>A)
c.599T>A (p.Phe200Tyr)
c.69T>A
n.566+1758T>A
c.203T>A (p.Phe68Tyr)
1g.150750024A>CCA342326826CTSSc.775T>G (p.Phe259Val)
c.547T>G (p.Phe183Val)
c.502T>G (p.Phe168Val)
c.625T>G (p.Phe209Val)
c.627+1757T>G (n.627+1757T>G)
c.598T>G (p.Phe200Val)
c.68T>G
n.566+1757T>G
c.202T>G (p.Phe68Val)
1g.150750024A>GCA342326827CTSSc.775T>C (p.Phe259Leu)
c.547T>C (p.Phe183Leu)
c.502T>C (p.Phe168Leu)
c.625T>C (p.Phe209Leu)
c.627+1757T>C (n.627+1757T>C)
c.598T>C (p.Phe200Leu)
c.68T>C
n.566+1757T>C
c.202T>C (p.Phe68Leu)
1g.150750024A>TCA342326828CTSSc.775T>A (p.Phe259Ile)
c.547T>A (p.Phe183Ile)
c.502T>A (p.Phe168Ile)
c.625T>A (p.Phe209Ile)
c.627+1757T>A (n.627+1757T>A)
c.598T>A (p.Phe200Ile)
c.68T>A
n.566+1757T>A
c.202T>A (p.Phe68Ile)
1g.150750025A>CCA420697768CTSSc.774T>G (p.Ser258=)
c.546T>G (p.Ser182=)
c.501T>G (p.Ser167=)
c.624T>G (p.Ser208=)
c.627+1756T>G (n.627+1756T>G)
c.597T>G (p.Ser199=)
c.67T>G
n.566+1756T>G
c.201T>G (p.Ser67=)

Number of alleles fetched