Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.139373159T>A | CA365876029 | CITED2 | c.786A>T (p.Lys262Asn) c.801A>T (p.Lys267Asn) c.615A>T (p.Lys205Asn) | |
6 | g.139373159T>C | CA452441110 | CITED2 | c.786A>G (p.Lys262=) c.801A>G (p.Lys267=) c.615A>G (p.Lys205=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.139373159T>G | CA365876031 | CITED2 | c.786A>C (p.Lys262Asn) c.801A>C (p.Lys267Asn) c.615A>C (p.Lys205Asn) | |
6 | g.139373159T= | CA1667372251 | CITED2 | c.786A= (p.Lys262=) c.801A= (p.Lys267=) c.615A= (p.Lys205=) | |
6 | g.139373160T>A | CA365876033 | CITED2 | c.785A>T (p.Lys262Ile) c.800A>T (p.Lys267Ile) c.614A>T (p.Lys205Ile) | |
6 | g.139373160T>C | CA365876035 | CITED2 | c.785A>G (p.Lys262Arg) c.800A>G (p.Lys267Arg) c.614A>G (p.Lys205Arg) | |
6 | g.139373160T>G | CA365876036 | CITED2 | c.785A>C (p.Lys262Thr) c.800A>C (p.Lys267Thr) c.614A>C (p.Lys205Thr) | gnomAD v4 |
6 | g.139373161T>A | CA365876038 | CITED2 | c.784A>T (p.Lys262Ter) c.799A>T (p.Lys267Ter) c.613A>T (p.Lys205Ter) | |
6 | g.139373161T>C | CA365876042 | CITED2 | c.784A>G (p.Lys262Glu) c.799A>G (p.Lys267Glu) c.613A>G (p.Lys205Glu) | |
6 | g.139373161T>G | CA365876040 | CITED2 | c.784A>C (p.Lys262Gln) c.799A>C (p.Lys267Gln) c.613A>C (p.Lys205Gln) | |
6 | g.139373162G>A | CA452441111 | CITED2 | c.783C>T (p.Cys261=) c.798C>T (p.Cys266=) c.612C>T (p.Cys204=) | gnomAD v4 |
6 | g.139373162G>C | CA365876045 | CITED2 | c.783C>G (p.Cys261Trp) c.798C>G (p.Cys266Trp) c.612C>G (p.Cys204Trp) | |
6 | g.139373162G>T | CA365876047 | CITED2 | c.783C>A (p.Cys261Ter) c.798C>A (p.Cys266Ter) c.612C>A (p.Cys204Ter) | |
6 | g.139373163C>A | CA365876049 | CITED2 | c.782G>T (p.Cys261Phe) c.797G>T (p.Cys266Phe) c.611G>T (p.Cys204Phe) | |
6 | g.139373163C= | CA1667372252 | CITED2 | c.782G= (p.Cys261=) c.797G= (p.Cys266=) c.611G= (p.Cys204=) | |
6 | g.139373163C>G | CA365876052 | CITED2 | c.782G>C (p.Cys261Ser) c.797G>C (p.Cys266Ser) c.611G>C (p.Cys204Ser) | |
6 | g.139373163C>T | CA365876051 | CITED2 | c.782G>A (p.Cys261Tyr) c.797G>A (p.Cys266Tyr) c.611G>A (p.Cys204Tyr) | dbSNP |
6 | g.139373164A>C | CA365876053 | CITED2 | c.781T>G (p.Cys261Gly) c.796T>G (p.Cys266Gly) c.610T>G (p.Cys204Gly) | |
6 | g.139373164A>G | CA365876054 | CITED2 | c.781T>C (p.Cys261Arg) c.796T>C (p.Cys266Arg) c.610T>C (p.Cys204Arg) | |
6 | g.139373164A>T | CA365876056 | CITED2 | c.781T>A (p.Cys261Ser) c.796T>A (p.Cys266Ser) c.610T>A (p.Cys204Ser) | |
6 | g.139373165C>A | CA452441120 | CITED2 | c.780G>T (p.Val260=) c.795G>T (p.Val265=) c.609G>T (p.Val203=) | |
6 | g.139373165C>G | CA452441118 | CITED2 | c.780G>C (p.Val260=) c.795G>C (p.Val265=) c.609G>C (p.Val203=) | |
6 | g.139373165C>T | CA452441117 | CITED2 | c.780G>A (p.Val260=) c.795G>A (p.Val265=) c.609G>A (p.Val203=) | |
6 | g.139373166A>C | CA365876058 | CITED2 | c.779T>G (p.Val260Gly) c.794T>G (p.Val265Gly) c.608T>G (p.Val203Gly) | gnomAD v4 |
6 | g.139373166A>G | CA365876060 | CITED2 | c.779T>C (p.Val260Ala) c.794T>C (p.Val265Ala) c.608T>C (p.Val203Ala) | gnomAD v4 |
6 | g.139373166A>T | CA365876062 | CITED2 | c.779T>A (p.Val260Glu) c.794T>A (p.Val265Glu) c.608T>A (p.Val203Glu) | |
6 | g.139373166_139373168delinsACG | CA1667372253 | CITED2 | c.777_779delinsCGT (p.Phe259=) c.792_794delinsCGT (p.Phe264=) c.606_608delinsCGT (p.Phe202=) | |
6 | g.139373167C>A | CA365876067 | CITED2 | c.778G>T (p.Val260Leu) c.793G>T (p.Val265Leu) c.607G>T (p.Val203Leu) | |
6 | g.139373167C>G | CA365876064 | CITED2 | c.778G>C (p.Val260Leu) c.793G>C (p.Val265Leu) c.607G>C (p.Val203Leu) | |
6 | g.139373167C>T | CA365876066 | CITED2 | c.778G>A (p.Val260Met) c.793G>A (p.Val265Met) c.607G>A (p.Val203Met) | |
6 | g.139373167_139373168del | CA1667372254 | CITED2 | c.777_778del (p.Cys261GlnfsTer?) c.792_793del (p.Cys266GlnfsTer?) c.606_607del (p.Cys204GlnfsTer?) | dbSNP |
6 | g.139373168G>A | CA452441124 | CITED2 | c.777C>T (p.Phe259=) c.792C>T (p.Phe264=) c.606C>T (p.Phe202=) | ClinVar dbSNP gnomAD v4 |
6 | g.139373168G>C | CA365876069 | CITED2 | c.777C>G (p.Phe259Leu) c.792C>G (p.Phe264Leu) c.606C>G (p.Phe202Leu) | gnomAD v4 |
6 | g.139373168G= | CA1667372255 | CITED2 | c.777C= (p.Phe259=) c.792C= (p.Phe264=) c.606C= (p.Phe202=) | |
6 | g.139373168G>T | CA4025522 | CITED2 | c.777C>A (p.Phe259Leu) c.792C>A (p.Phe264Leu) c.606C>A (p.Phe202Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.139373169A= | CA1667372256 | CITED2 | c.776T= (p.Phe259=) c.791T= (p.Phe264=) c.605T= (p.Phe202=) | |
6 | g.139373169A>C | CA365876072 | CITED2 | c.776T>G (p.Phe259Cys) c.791T>G (p.Phe264Cys) c.605T>G (p.Phe202Cys) | |
6 | g.139373169A>G | CA148813782 | CITED2 | c.776T>C (p.Phe259Ser) c.791T>C (p.Phe264Ser) c.605T>C (p.Phe202Ser) | dbSNP |
6 | g.139373169A>T | CA365876075 | CITED2 | c.776T>A (p.Phe259Tyr) c.791T>A (p.Phe264Tyr) c.605T>A (p.Phe202Tyr) | dbSNP gnomAD v4 |
6 | g.139373170A>C | CA365876078 | CITED2 | c.775T>G (p.Phe259Val) c.790T>G (p.Phe264Val) c.604T>G (p.Phe202Val) | |
6 | g.139373170A>G | CA365876082 | CITED2 | c.775T>C (p.Phe259Leu) c.790T>C (p.Phe264Leu) c.604T>C (p.Phe202Leu) | |
6 | g.139373170A>T | CA365876080 | CITED2 | c.775T>A (p.Phe259Ile) c.790T>A (p.Phe264Ile) c.604T>A (p.Phe202Ile) | |
6 | g.139373171G>A | CA452441129 | CITED2 | c.774C>T (p.Asp258=) c.789C>T (p.Asp263=) c.603C>T (p.Asp201=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.139373171G>C | CA365876084 | CITED2 | c.774C>G (p.Asp258Glu) c.789C>G (p.Asp263Glu) c.603C>G (p.Asp201Glu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.139373171G= | CA1667372257 | CITED2 | c.774C= (p.Asp258=) c.789C= (p.Asp263=) c.603C= (p.Asp201=) | |
6 | g.139373171G>T | CA365876085 | CITED2 | c.774C>A (p.Asp258Glu) c.789C>A (p.Asp263Glu) c.603C>A (p.Asp201Glu) | |
6 | g.139373172T>A | CA365876086 | CITED2 | c.773A>T (p.Asp258Val) c.788A>T (p.Asp263Val) c.602A>T (p.Asp201Val) | |
6 | g.139373172T>C | CA365876088 | CITED2 | c.773A>G (p.Asp258Gly) c.788A>G (p.Asp263Gly) c.602A>G (p.Asp201Gly) | |
6 | g.139373172T>G | CA365876089 | CITED2 | c.773A>C (p.Asp258Ala) c.788A>C (p.Asp263Ala) c.602A>C (p.Asp201Ala) | |
6 | g.139373173C>A | CA365876091 | CITED2 | c.772G>T (p.Asp258Tyr) c.787G>T (p.Asp263Tyr) c.601G>T (p.Asp201Tyr) |