Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.30071466_30071504del | CA2677813980 | RNF39 | c.674_712del (p.Ala225_Asp237del) c.878_916del (p.Ala293_Asp305del) c.419_457del (p.Ala140_Asp152del) | gnomAD v4 |
6 | g.30071465A>C | CA363054200 | RNF39 | c.705T>G (p.Asp235Glu) c.909T>G (p.Asp303Glu) c.450T>G (p.Asp150Glu) | |
6 | g.30071465A>G | CA449767574 | RNF39 | c.705T>C (p.Asp235=) c.909T>C (p.Asp303=) c.450T>C (p.Asp150=) | gnomAD v4 |
6 | g.30071465A>T | CA363054201 | RNF39 | c.705T>A (p.Asp235Glu) c.909T>A (p.Asp303Glu) c.450T>A (p.Asp150Glu) | |
6 | g.30071466T>A | CA363054202 | RNF39 | c.704A>T (p.Asp235Val) c.908A>T (p.Asp303Val) c.449A>T (p.Asp150Val) | gnomAD v4 |
6 | g.30071466T>C | CA363054203 | RNF39 | c.704A>G (p.Asp235Gly) c.908A>G (p.Asp303Gly) c.449A>G (p.Asp150Gly) | gnomAD v4 |
6 | g.30071466T>G | CA363054204 | RNF39 | c.704A>C (p.Asp235Ala) c.908A>C (p.Asp303Ala) c.449A>C (p.Asp150Ala) | |
6 | g.30071467C>A | CA363054205 | RNF39 | c.703G>T (p.Asp235Tyr) c.907G>T (p.Asp303Tyr) c.448G>T (p.Asp150Tyr) | gnomAD v4 |
6 | g.30071467C>G | CA363054206 | RNF39 | c.703G>C (p.Asp235His) c.907G>C (p.Asp303His) c.448G>C (p.Asp150His) | gnomAD v4 |
6 | g.30071467C>T | CA363054207 | RNF39 | c.703G>A (p.Asp235Asn) c.907G>A (p.Asp303Asn) c.448G>A (p.Asp150Asn) | |
6 | g.30071468C>A | CA363054208 | RNF39 | c.702G>T (p.Glu234Asp) c.906G>T (p.Glu302Asp) c.447G>T (p.Glu149Asp) | gnomAD v4 |
6 | g.30071468C>G | CA363054209 | RNF39 | c.702G>C (p.Glu234Asp) c.906G>C (p.Glu302Asp) c.447G>C (p.Glu149Asp) | |
6 | g.30071468C>T | CA449767578 | RNF39 | c.702G>A (p.Glu234=) c.906G>A (p.Glu302=) c.447G>A (p.Glu149=) | gnomAD v4 |
6 | g.30071469T>A | CA363054212 | RNF39 | c.701A>T (p.Glu234Val) c.905A>T (p.Glu302Val) c.446A>T (p.Glu149Val) | |
6 | g.30071469T>C | CA363054211 | RNF39 | c.701A>G (p.Glu234Gly) c.905A>G (p.Glu302Gly) c.446A>G (p.Glu149Gly) | gnomAD v4 |
6 | g.30071469T>G | CA363054210 | RNF39 | c.701A>C (p.Glu234Ala) c.905A>C (p.Glu302Ala) c.446A>C (p.Glu149Ala) | |
6 | g.30071470C>A | CA363054213 | RNF39 | c.700G>T (p.Glu234Ter) c.904G>T (p.Glu302Ter) c.445G>T (p.Glu149Ter) | gnomAD v4 |
6 | g.30071470C>G | CA363054215 | RNF39 | c.700G>C (p.Glu234Gln) c.904G>C (p.Glu302Gln) c.445G>C (p.Glu149Gln) | gnomAD v4 |
6 | g.30071470C>T | CA363054214 | RNF39 | c.700G>A (p.Glu234Lys) c.904G>A (p.Glu302Lys) c.445G>A (p.Glu149Lys) | gnomAD v4 |
6 | g.30071473del | CA2677813982 | RNF39 | c.700del (p.Glu234ArgfsTer25) c.700del (p.Glu234ArgfsTer?) c.904del (p.Glu302ArgfsTer25) c.904del (p.Glu302ArgfsTer?) c.445del (p.Glu149ArgfsTer25) | gnomAD v4 |
6 | g.30071471C>A | CA449767582 | RNF39 | c.699G>T (p.Gly233=) c.903G>T (p.Gly301=) c.444G>T (p.Gly148=) | gnomAD v4 |
6 | g.30071471C>G | CA449767583 | RNF39 | c.699G>C (p.Gly233=) c.903G>C (p.Gly301=) c.444G>C (p.Gly148=) | |
6 | g.30071471C>T | CA449767584 | RNF39 | c.699G>A (p.Gly233=) c.903G>A (p.Gly301=) c.444G>A (p.Gly148=) | gnomAD v4 |
6 | g.30071472C>A | CA363054216 | RNF39 | c.698G>T (p.Gly233Val) c.902G>T (p.Gly301Val) c.443G>T (p.Gly148Val) | gnomAD v4 |
6 | g.30071472C= | CA1618576747 | RNF39 | c.698G= (p.Gly233=) c.902G= (p.Gly301=) c.443G= (p.Gly148=) | |
6 | g.30071472C>G | CA363054218 | RNF39 | c.698G>C (p.Gly233Ala) c.902G>C (p.Gly301Ala) c.443G>C (p.Gly148Ala) | dbSNP gnomAD v4 |
6 | g.30071472C>T | CA363054217 | RNF39 | c.698G>A (p.Gly233Glu) c.902G>A (p.Gly301Glu) c.443G>A (p.Gly148Glu) | gnomAD v4 |
6 | g.30071473C>A | CA363054219 | RNF39 | c.697G>T (p.Gly233Trp) c.901G>T (p.Gly301Trp) c.442G>T (p.Gly148Trp) | gnomAD v4 |
6 | g.30071473C= | CA1618576748 | RNF39 | c.697G= (p.Gly233=) c.901G= (p.Gly301=) c.442G= (p.Gly148=) | |
6 | g.30071473C>G | CA363054220 | RNF39 | c.697G>C (p.Gly233Arg) c.901G>C (p.Gly301Arg) c.442G>C (p.Gly148Arg) | |
6 | g.30071473C>T | CA363054221 | RNF39 | c.697G>A (p.Gly233Arg) c.901G>A (p.Gly301Arg) c.442G>A (p.Gly148Arg) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071474A= | CA1618576749 | RNF39 | c.696T= (p.Ser232=) c.900T= (p.Ser300=) c.441T= (p.Ser147=) | |
6 | g.30071474A>C | CA449767586 | RNF39 | c.696T>G (p.Ser232=) c.900T>G (p.Ser300=) c.441T>G (p.Ser147=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071474A>G | CA449767588 | RNF39 | c.696T>C (p.Ser232=) c.900T>C (p.Ser300=) c.441T>C (p.Ser147=) | gnomAD v4 |
6 | g.30071474A>T | CA449767589 | RNF39 | c.696T>A (p.Ser232=) c.900T>A (p.Ser300=) c.441T>A (p.Ser147=) | gnomAD v4 |
6 | g.30071475G>A | CA363054222 | RNF39 | c.695C>T (p.Ser232Phe) c.899C>T (p.Ser300Phe) c.440C>T (p.Ser147Phe) | gnomAD v4 |
6 | g.30071475G>C | CA363054223 | RNF39 | c.695C>G (p.Ser232Cys) c.899C>G (p.Ser300Cys) c.440C>G (p.Ser147Cys) | COSMIC |
6 | g.30071475G>T | CA363054224 | RNF39 | c.695C>A (p.Ser232Tyr) c.899C>A (p.Ser300Tyr) c.440C>A (p.Ser147Tyr) | gnomAD v4 |
6 | g.30071476A>C | CA363054225 | RNF39 | c.694T>G (p.Ser232Ala) c.898T>G (p.Ser300Ala) c.439T>G (p.Ser147Ala) | |
6 | g.30071476A>G | CA363054226 | RNF39 | c.694T>C (p.Ser232Pro) c.898T>C (p.Ser300Pro) c.439T>C (p.Ser147Pro) | |
6 | g.30071476A>T | CA363054227 | RNF39 | c.694T>A (p.Ser232Thr) c.898T>A (p.Ser300Thr) c.439T>A (p.Ser147Thr) | |
6 | g.30071476_30071478delinsAAG | CA1618576750 | RNF39 | c.692_694delinsCTT (p.Ser231=) c.896_898delinsCTT (p.Ser299=) c.437_439delinsCTT (p.Ser146=) | |
6 | g.30071477A= | CA1618576752 | RNF39 | c.693T= (p.Ser231=) c.897T= (p.Ser299=) c.438T= (p.Ser146=) | |
6 | g.30071477A>C | CA449767591 | RNF39 | c.693T>G (p.Ser231=) c.897T>G (p.Ser299=) c.438T>G (p.Ser146=) | |
6 | g.30071477A>G | CA3694381 | RNF39 | c.693T>C (p.Ser231=) c.897T>C (p.Ser299=) c.438T>C (p.Ser146=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
6 | g.30071477A>T | CA449767590 | RNF39 | c.693T>A (p.Ser231=) c.897T>A (p.Ser299=) c.438T>A (p.Ser146=) | |
6 | g.30071479_30071480del | CA1618576751 | RNF39 | c.692_693del (p.Ser231PhefsTer?) c.896_897del (p.Ser299PhefsTer?) c.437_438del (p.Ser146PhefsTer?) | dbSNP gnomAD v4 |
6 | g.30071478G>A | CA363054230 | RNF39 | c.692C>T (p.Ser231Phe) c.896C>T (p.Ser299Phe) c.437C>T (p.Ser146Phe) | gnomAD v4 |
6 | g.30071478G>C | CA363054229 | RNF39 | c.692C>G (p.Ser231Cys) c.896C>G (p.Ser299Cys) c.437C>G (p.Ser146Cys) | |
6 | g.30071478G>T | CA363054228 | RNF39 | c.692C>A (p.Ser231Tyr) c.896C>A (p.Ser299Tyr) c.437C>A (p.Ser146Tyr) | gnomAD v4 |
6 | g.30071479A>C | CA363054231 | RNF39 | c.691T>G (p.Ser231Ala) c.895T>G (p.Ser299Ala) c.436T>G (p.Ser146Ala) | |
6 | g.30071479A>G | CA363054232 | RNF39 | c.691T>C (p.Ser231Pro) c.895T>C (p.Ser299Pro) c.436T>C (p.Ser146Pro) | gnomAD v4 |
6 | g.30071479A>T | CA363054233 | RNF39 | c.691T>A (p.Ser231Thr) c.895T>A (p.Ser299Thr) c.436T>A (p.Ser146Thr) | |
6 | g.30071480G>A | CA449767595 | RNF39 | c.690C>T (p.Asp230=) c.894C>T (p.Asp298=) c.435C>T (p.Asp145=) | gnomAD v4 |
6 | g.30071480G>C | CA363054234 | RNF39 | c.690C>G (p.Asp230Glu) c.894C>G (p.Asp298Glu) c.435C>G (p.Asp145Glu) | |
6 | g.30071480G>T | CA363054235 | RNF39 | c.690C>A (p.Asp230Glu) c.894C>A (p.Asp298Glu) c.435C>A (p.Asp145Glu) | gnomAD v4 |
6 | g.30071480_30071482delinsGTC | CA1618576753 | RNF39 | c.688_690delinsGAC (p.Asp230=) c.892_894delinsGAC (p.Asp298=) c.433_435delinsGAC (p.Asp145=) | |
6 | g.30071481T>A | CA136036019 | RNF39 | c.689A>T (p.Asp230Val) c.893A>T (p.Asp298Val) c.434A>T (p.Asp145Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071481T>C | CA363054236 | RNF39 | c.689A>G (p.Asp230Gly) c.893A>G (p.Asp298Gly) c.434A>G (p.Asp145Gly) | gnomAD v4 |
6 | g.30071481T>G | CA363054237 | RNF39 | c.689A>C (p.Asp230Ala) c.893A>C (p.Asp298Ala) c.434A>C (p.Asp145Ala) | |
6 | g.30071481T= | CA1618576754 | RNF39 | c.689A= (p.Asp230=) c.893A= (p.Asp298=) c.434A= (p.Asp145=) | |
6 | g.30071484_30071485del | CA3694382 | RNF39 | c.688_689del (p.Asp230LeufsTer?) c.892_893del (p.Asp298LeufsTer?) c.433_434del (p.Asp145LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071482C>A | CA363054238 | RNF39 | c.688G>T (p.Asp230Tyr) c.892G>T (p.Asp298Tyr) c.433G>T (p.Asp145Tyr) | gnomAD v4 |
6 | g.30071482C>G | CA363054239 | RNF39 | c.688G>C (p.Asp230His) c.892G>C (p.Asp298His) c.433G>C (p.Asp145His) | |
6 | g.30071482C>T | CA363054240 | RNF39 | c.688G>A (p.Asp230Asn) c.892G>A (p.Asp298Asn) c.433G>A (p.Asp145Asn) | gnomAD v4 |
6 | g.30071483T>A | CA363054242 | RNF39 | c.687A>T (p.Arg229Ser) c.891A>T (p.Arg297Ser) c.432A>T (p.Arg144Ser) | gnomAD v4 |
6 | g.30071483T>C | CA449767597 | RNF39 | c.687A>G (p.Arg229=) c.891A>G (p.Arg297=) c.432A>G (p.Arg144=) | gnomAD v4 |
6 | g.30071483T>G | CA363054241 | RNF39 | c.687A>C (p.Arg229Ser) c.891A>C (p.Arg297Ser) c.432A>C (p.Arg144Ser) | |
6 | g.30071484C>A | CA363054243 | RNF39 | c.686G>T (p.Arg229Ile) c.890G>T (p.Arg297Ile) c.431G>T (p.Arg144Ile) | gnomAD v4 |
6 | g.30071484C>G | CA363054244 | RNF39 | c.686G>C (p.Arg229Thr) c.890G>C (p.Arg297Thr) c.431G>C (p.Arg144Thr) | gnomAD v4 |
6 | g.30071484C>T | CA363054245 | RNF39 | c.686G>A (p.Arg229Lys) c.890G>A (p.Arg297Lys) c.431G>A (p.Arg144Lys) | gnomAD v4 |
6 | g.30071485T>A | CA363054246 | RNF39 | c.685A>T (p.Arg229Ter) c.889A>T (p.Arg297Ter) c.430A>T (p.Arg144Ter) | gnomAD v4 |
6 | g.30071485T>C | CA363054247 | RNF39 | c.685A>G (p.Arg229Gly) c.889A>G (p.Arg297Gly) c.430A>G (p.Arg144Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071485T>G | CA449767598 | RNF39 | c.685A>C (p.Arg229=) c.889A>C (p.Arg297=) c.430A>C (p.Arg144=) | |
6 | g.30071485T= | CA1618576755 | RNF39 | c.685A= (p.Arg229=) c.889A= (p.Arg297=) c.430A= (p.Arg144=) | |
6 | g.30071486G>A | CA449767599 | RNF39 | c.684C>T (p.Cys228=) c.888C>T (p.Cys296=) c.429C>T (p.Cys143=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071486G>C | CA363054248 | RNF39 | c.684C>G (p.Cys228Trp) c.888C>G (p.Cys296Trp) c.429C>G (p.Cys143Trp) | |
6 | g.30071486G= | CA1618576756 | RNF39 | c.684C= (p.Cys228=) c.888C= (p.Cys296=) c.429C= (p.Cys143=) | |
6 | g.30071486G>T | CA363054249 | RNF39 | c.684C>A (p.Cys228Ter) c.888C>A (p.Cys296Ter) c.429C>A (p.Cys143Ter) | gnomAD v4 |
6 | g.30071487C>A | CA363054250 | RNF39 | c.683G>T (p.Cys228Phe) c.887G>T (p.Cys296Phe) c.428G>T (p.Cys143Phe) | gnomAD v4 |
6 | g.30071487C>G | CA363054251 | RNF39 | c.683G>C (p.Cys228Ser) c.887G>C (p.Cys296Ser) c.428G>C (p.Cys143Ser) | gnomAD v4 |
6 | g.30071487C>T | CA363054252 | RNF39 | c.683G>A (p.Cys228Tyr) c.887G>A (p.Cys296Tyr) c.428G>A (p.Cys143Tyr) | gnomAD v4 |
6 | g.30071488A>C | CA363054253 | RNF39 | c.682T>G (p.Cys228Gly) c.886T>G (p.Cys296Gly) c.427T>G (p.Cys143Gly) | gnomAD v4 |
6 | g.30071488A>G | CA363054254 | RNF39 | c.682T>C (p.Cys228Arg) c.886T>C (p.Cys296Arg) c.427T>C (p.Cys143Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071488A>T | CA363054255 | RNF39 | c.682T>A (p.Cys228Ser) c.886T>A (p.Cys296Ser) c.427T>A (p.Cys143Ser) | |
6 | g.30071489G>A | CA136036024 | RNF39 | c.681C>T (p.Ser227=) c.885C>T (p.Ser295=) c.426C>T (p.Ser142=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071489G>C | CA449767604 | RNF39 | c.681C>G (p.Ser227=) c.885C>G (p.Ser295=) c.426C>G (p.Ser142=) | |
6 | g.30071489G= | CA1618576757 | RNF39 | c.681C= (p.Ser227=) c.885C= (p.Ser295=) c.426C= (p.Ser142=) | |
6 | g.30071489G>T | CA449767603 | RNF39 | c.681C>A (p.Ser227=) c.885C>A (p.Ser295=) c.426C>A (p.Ser142=) | gnomAD v4 |
6 | g.30071490G>A | CA363054258 | RNF39 | c.680C>T (p.Ser227Phe) c.884C>T (p.Ser295Phe) c.425C>T (p.Ser142Phe) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071490G>C | CA363054256 | RNF39 | c.680C>G (p.Ser227Cys) c.884C>G (p.Ser295Cys) c.425C>G (p.Ser142Cys) | |
6 | g.30071490G= | CA1618576758 | RNF39 | c.680C= (p.Ser227=) c.884C= (p.Ser295=) c.425C= (p.Ser142=) | |
6 | g.30071490G>T | CA363054257 | RNF39 | c.680C>A (p.Ser227Tyr) c.884C>A (p.Ser295Tyr) c.425C>A (p.Ser142Tyr) | gnomAD v4 |
6 | g.30071491A>C | CA363054259 | RNF39 | c.679T>G (p.Ser227Ala) c.883T>G (p.Ser295Ala) c.424T>G (p.Ser142Ala) | |
6 | g.30071491A>G | CA363054260 | RNF39 | c.679T>C (p.Ser227Pro) c.883T>C (p.Ser295Pro) c.424T>C (p.Ser142Pro) | |
6 | g.30071491A>T | CA363054261 | RNF39 | c.679T>A (p.Ser227Thr) c.883T>A (p.Ser295Thr) c.424T>A (p.Ser142Thr) | |
6 | g.30071492G>A | CA449767608 | RNF39 | c.678C>T (p.Ala226=) c.882C>T (p.Ala294=) c.423C>T (p.Ala141=) | gnomAD v4 |
6 | g.30071492G>C | CA449767609 | RNF39 | c.678C>G (p.Ala226=) c.882C>G (p.Ala294=) c.423C>G (p.Ala141=) | |
6 | g.30071492G>T | CA449767610 | RNF39 | c.678C>A (p.Ala226=) c.882C>A (p.Ala294=) c.423C>A (p.Ala141=) | gnomAD v4 |
6 | g.30071493G>A | CA363054262 | RNF39 | c.677C>T (p.Ala226Val) c.881C>T (p.Ala294Val) c.422C>T (p.Ala141Val) | gnomAD v4 |
6 | g.30071493G>C | CA363054263 | RNF39 | c.677C>G (p.Ala226Gly) c.881C>G (p.Ala294Gly) c.422C>G (p.Ala141Gly) | |
6 | g.30071493G>T | CA363054264 | RNF39 | c.677C>A (p.Ala226Asp) c.881C>A (p.Ala294Asp) c.422C>A (p.Ala141Asp) | gnomAD v4 |
6 | g.30071494C>A | CA136036026 | RNF39 | c.676G>T (p.Ala226Ser) c.880G>T (p.Ala294Ser) c.421G>T (p.Ala141Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071494C= | CA1618576759 | RNF39 | c.676G= (p.Ala226=) c.880G= (p.Ala294=) c.421G= (p.Ala141=) | |
6 | g.30071494C>G | CA363054265 | RNF39 | c.676G>C (p.Ala226Pro) c.880G>C (p.Ala294Pro) c.421G>C (p.Ala141Pro) | |
6 | g.30071494C>T | CA363054266 | RNF39 | c.676G>A (p.Ala226Thr) c.880G>A (p.Ala294Thr) c.421G>A (p.Ala141Thr) | dbSNP gnomAD v4 |
6 | g.30071495G>A | CA449767612 | RNF39 | c.675C>T (p.Ala225=) c.879C>T (p.Ala293=) c.420C>T (p.Ala140=) | gnomAD v4 |
6 | g.30071495G>C | CA449767613 | RNF39 | c.675C>G (p.Ala225=) c.879C>G (p.Ala293=) c.420C>G (p.Ala140=) | |
6 | g.30071495G>T | CA449767614 | RNF39 | c.675C>A (p.Ala225=) c.879C>A (p.Ala293=) c.420C>A (p.Ala140=) | gnomAD v4 |
6 | g.30071496G>A | CA363054267 | RNF39 | c.674C>T (p.Ala225Val) c.878C>T (p.Ala293Val) c.419C>T (p.Ala140Val) | gnomAD v4 |
6 | g.30071496G>C | CA363054268 | RNF39 | c.674C>G (p.Ala225Gly) c.878C>G (p.Ala293Gly) c.419C>G (p.Ala140Gly) | |
6 | g.30071496G>T | CA363054269 | RNF39 | c.674C>A (p.Ala225Asp) c.878C>A (p.Ala293Asp) c.419C>A (p.Ala140Asp) | gnomAD v4 |
6 | g.30071497C>A | CA363054270 | RNF39 | c.673G>T (p.Ala225Ser) c.877G>T (p.Ala293Ser) c.418G>T (p.Ala140Ser) | gnomAD v4 |
6 | g.30071497C= | CA1618576760 | RNF39 | c.673G= (p.Ala225=) c.877G= (p.Ala293=) c.418G= (p.Ala140=) | |
6 | g.30071497C>G | CA3694383 | RNF39 | c.673G>C (p.Ala225Pro) c.877G>C (p.Ala293Pro) c.418G>C (p.Ala140Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.30071497C>T | CA136036029 | RNF39 | c.673G>A (p.Ala225Thr) c.877G>A (p.Ala293Thr) c.418G>A (p.Ala140Thr) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071498G>A | CA449767615 | RNF39 | c.672C>T (p.Asp224=) c.876C>T (p.Asp292=) c.417C>T (p.Asp139=) | gnomAD v4 |
6 | g.30071498G>C | CA363054271 | RNF39 | c.672C>G (p.Asp224Glu) c.876C>G (p.Asp292Glu) c.417C>G (p.Asp139Glu) | |
6 | g.30071498G>T | CA363054272 | RNF39 | c.672C>A (p.Asp224Glu) c.876C>A (p.Asp292Glu) c.417C>A (p.Asp139Glu) | gnomAD v4 |
6 | g.30071499T>A | CA363054273 | RNF39 | c.671A>T (p.Asp224Val) c.875A>T (p.Asp292Val) c.416A>T (p.Asp139Val) | |
6 | g.30071499T>C | CA363054274 | RNF39 | c.671A>G (p.Asp224Gly) c.875A>G (p.Asp292Gly) c.416A>G (p.Asp139Gly) | gnomAD v4 |
6 | g.30071499T>G | CA363054275 | RNF39 | c.671A>C (p.Asp224Ala) c.875A>C (p.Asp292Ala) c.416A>C (p.Asp139Ala) | |
6 | g.30071499dup | CA2578557435 | RNF39 | c.671dup (p.Asp224GlufsTer?) c.875dup (p.Asp292GlufsTer?) c.416dup (p.Asp139GlufsTer?) | gnomAD v4 |
6 | g.30071500C>A | CA363054276 | RNF39 | c.670G>T (p.Asp224Tyr) c.874G>T (p.Asp292Tyr) c.415G>T (p.Asp139Tyr) | gnomAD v4 |
6 | g.30071500C>G | CA363054277 | RNF39 | c.670G>C (p.Asp224His) c.874G>C (p.Asp292His) c.415G>C (p.Asp139His) | gnomAD v4 |
6 | g.30071500C>T | CA363054278 | RNF39 | c.670G>A (p.Asp224Asn) c.874G>A (p.Asp292Asn) c.415G>A (p.Asp139Asn) | gnomAD v4 |
6 | g.30071501C>A | CA449767370 | RNF39 | c.669G>T (p.Ala223=) c.873G>T (p.Ala291=) c.414G>T (p.Ala138=) | gnomAD v4 |
6 | g.30071501C= | CA1618576761 | RNF39 | c.669G= (p.Ala223=) c.873G= (p.Ala291=) c.414G= (p.Ala138=) | |
6 | g.30071501C>G | CA449767371 | RNF39 | c.669G>C (p.Ala223=) c.873G>C (p.Ala291=) c.414G>C (p.Ala138=) | |
6 | g.30071501C>T | CA3694384 | RNF39 | c.669G>A (p.Ala223=) c.873G>A (p.Ala291=) c.414G>A (p.Ala138=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071502del | CA2677813983 | RNF39 | c.668del (p.Ala223GlyfsTer?) c.872del (p.Ala291GlyfsTer?) c.413del (p.Ala138GlyfsTer?) | gnomAD v4 |
6 | g.30071502G>A | CA136036040 | RNF39 | c.668C>T (p.Ala223Val) c.872C>T (p.Ala291Val) c.413C>T (p.Ala138Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071502G>C | CA363054279 | RNF39 | c.668C>G (p.Ala223Gly) c.872C>G (p.Ala291Gly) c.413C>G (p.Ala138Gly) | gnomAD v4 |
6 | g.30071502G= | CA1618576762 | RNF39 | c.668C= (p.Ala223=) c.872C= (p.Ala291=) c.413C= (p.Ala138=) | |
6 | g.30071502G>T | CA363054280 | RNF39 | c.668C>A (p.Ala223Glu) c.872C>A (p.Ala291Glu) c.413C>A (p.Ala138Glu) | dbSNP gnomAD v4 |
6 | g.30071503C>A | CA363054281 | RNF39 | c.667G>T (p.Ala223Ser) c.871G>T (p.Ala291Ser) c.412G>T (p.Ala138Ser) | gnomAD v4 |
6 | g.30071503C>G | CA363054282 | RNF39 | c.667G>C (p.Ala223Pro) c.871G>C (p.Ala291Pro) c.412G>C (p.Ala138Pro) | |
6 | g.30071503C>T | CA363054283 | RNF39 | c.667G>A (p.Ala223Thr) c.871G>A (p.Ala291Thr) c.412G>A (p.Ala138Thr) | gnomAD v4 |
6 | g.30071504A>C | CA449767375 | RNF39 | c.666T>G (p.Thr222=) c.870T>G (p.Thr290=) c.411T>G (p.Thr137=) | |
6 | g.30071504A>G | CA449767376 | RNF39 | c.666T>C (p.Thr222=) c.870T>C (p.Thr290=) c.411T>C (p.Thr137=) | gnomAD v4 |
6 | g.30071504A>T | CA449767377 | RNF39 | c.666T>A (p.Thr222=) c.870T>A (p.Thr290=) c.411T>A (p.Thr137=) | |
6 | g.30071505G>A | CA363054286 | RNF39 | c.665C>T (p.Thr222Ile) c.869C>T (p.Thr290Ile) c.410C>T (p.Thr137Ile) | gnomAD v4 |
6 | g.30071505G>C | CA363054284 | RNF39 | c.665C>G (p.Thr222Ser) c.869C>G (p.Thr290Ser) c.410C>G (p.Thr137Ser) | |
6 | g.30071505G>T | CA363054285 | RNF39 | c.665C>A (p.Thr222Asn) c.869C>A (p.Thr290Asn) c.410C>A (p.Thr137Asn) | gnomAD v4 |
6 | g.30071506T>A | CA363054287 | RNF39 | c.664A>T (p.Thr222Ser) c.868A>T (p.Thr290Ser) c.409A>T (p.Thr137Ser) | gnomAD v4 |
6 | g.30071506T>C | CA363054288 | RNF39 | c.664A>G (p.Thr222Ala) c.868A>G (p.Thr290Ala) c.409A>G (p.Thr137Ala) | gnomAD v4 |
6 | g.30071506T>G | CA363054289 | RNF39 | c.664A>C (p.Thr222Pro) c.868A>C (p.Thr290Pro) c.409A>C (p.Thr137Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071506T= | CA1618576763 | RNF39 | c.664A= (p.Thr222=) c.868A= (p.Thr290=) c.409A= (p.Thr137=) | |
6 | g.30071507C>A | CA363054290 | RNF39 | c.663G>T (p.Glu221Asp) c.867G>T (p.Glu289Asp) c.408G>T (p.Glu136Asp) | gnomAD v4 |
6 | g.30071507C>G | CA363054291 | RNF39 | c.663G>C (p.Glu221Asp) c.867G>C (p.Glu289Asp) c.408G>C (p.Glu136Asp) | |
6 | g.30071507C>T | CA449767381 | RNF39 | c.663G>A (p.Glu221=) c.867G>A (p.Glu289=) c.408G>A (p.Glu136=) | gnomAD v4 |
6 | g.30071508T>A | CA363054292 | RNF39 | c.662A>T (p.Glu221Val) c.866A>T (p.Glu289Val) c.407A>T (p.Glu136Val) | gnomAD v4 |
6 | g.30071508T>C | CA363054293 | RNF39 | c.662A>G (p.Glu221Gly) c.866A>G (p.Glu289Gly) c.407A>G (p.Glu136Gly) | gnomAD v4 |
6 | g.30071508T>G | CA363054294 | RNF39 | c.662A>C (p.Glu221Ala) c.866A>C (p.Glu289Ala) c.407A>C (p.Glu136Ala) | gnomAD v4 |
6 | g.30071509C>A | CA363054295 | RNF39 | c.661G>T (p.Glu221Ter) c.865G>T (p.Glu289Ter) c.406G>T (p.Glu136Ter) | gnomAD v4 |
6 | g.30071509C>G | CA363054296 | RNF39 | c.661G>C (p.Glu221Gln) c.865G>C (p.Glu289Gln) c.406G>C (p.Glu136Gln) | |
6 | g.30071509C>T | CA363054297 | RNF39 | c.661G>A (p.Glu221Lys) c.865G>A (p.Glu289Lys) c.406G>A (p.Glu136Lys) | gnomAD v4 |
6 | g.30071510del | CA2677813984 | RNF39 | c.661del (p.Glu221ArgfsTer?) c.865del (p.Glu289ArgfsTer?) c.406del (p.Glu136ArgfsTer?) | gnomAD v4 |
6 | g.30071510C>A | CA449767388 | RNF39 | c.660G>T (p.Val220=) c.864G>T (p.Val288=) c.405G>T (p.Val135=) | gnomAD v4 |
6 | g.30071510C>G | CA449767389 | RNF39 | c.660G>C (p.Val220=) c.864G>C (p.Val288=) c.405G>C (p.Val135=) | gnomAD v4 |
6 | g.30071510C>T | CA449767390 | RNF39 | c.660G>A (p.Val220=) c.864G>A (p.Val288=) c.405G>A (p.Val135=) | gnomAD v4 |
6 | g.30071511A>C | CA363054300 | RNF39 | c.659T>G (p.Val220Gly) c.863T>G (p.Val288Gly) c.404T>G (p.Val135Gly) | |
6 | g.30071511A>G | CA363054299 | RNF39 | c.659T>C (p.Val220Ala) c.863T>C (p.Val288Ala) c.404T>C (p.Val135Ala) | gnomAD v4 |
6 | g.30071511A>T | CA363054298 | RNF39 | c.659T>A (p.Val220Glu) c.863T>A (p.Val288Glu) c.404T>A (p.Val135Glu) | gnomAD v4 |
6 | g.30071512C>A | CA363054301 | RNF39 | c.658G>T (p.Val220Leu) c.862G>T (p.Val288Leu) c.403G>T (p.Val135Leu) | gnomAD v4 |
6 | g.30071512C= | CA1618576764 | RNF39 | c.658G= (p.Val220=) c.862G= (p.Val288=) c.403G= (p.Val135=) | |
6 | g.30071512C>G | CA363054302 | RNF39 | c.658G>C (p.Val220Leu) c.862G>C (p.Val288Leu) c.403G>C (p.Val135Leu) | |
6 | g.30071512C>T | CA363054303 | RNF39 | c.658G>A (p.Val220Met) c.862G>A (p.Val288Met) c.403G>A (p.Val135Met) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071513C>A | CA363054304 | RNF39 | c.657G>T (p.Glu219Asp) c.861G>T (p.Glu287Asp) c.402G>T (p.Glu134Asp) | gnomAD v4 |
6 | g.30071513C>G | CA363054305 | RNF39 | c.657G>C (p.Glu219Asp) c.861G>C (p.Glu287Asp) c.402G>C (p.Glu134Asp) | |
6 | g.30071513C>T | CA449767397 | RNF39 | c.657G>A (p.Glu219=) c.861G>A (p.Glu287=) c.402G>A (p.Glu134=) | gnomAD v4 |
6 | g.30071514del | CA2677813985 | RNF39 | c.656del (p.Glu219GlyfsTer?) c.860del (p.Glu287GlyfsTer?) c.401del (p.Glu134GlyfsTer?) | gnomAD v4 |
6 | g.30071514T>A | CA363054308 | RNF39 | c.656A>T (p.Glu219Val) c.860A>T (p.Glu287Val) c.401A>T (p.Glu134Val) | gnomAD v4 |
6 | g.30071514T>C | CA363054307 | RNF39 | c.656A>G (p.Glu219Gly) c.860A>G (p.Glu287Gly) c.401A>G (p.Glu134Gly) | gnomAD v4 |
6 | g.30071514T>G | CA363054306 | RNF39 | c.656A>C (p.Glu219Ala) c.860A>C (p.Glu287Ala) c.401A>C (p.Glu134Ala) | |
6 | g.30071515C>A | CA363054309 | RNF39 | c.655G>T (p.Glu219Ter) c.859G>T (p.Glu287Ter) c.400G>T (p.Glu134Ter) | gnomAD v4 |
6 | g.30071515C= | CA1618576765 | RNF39 | c.655G= (p.Glu219=) c.859G= (p.Glu287=) c.400G= (p.Glu134=) | |
6 | g.30071515C>G | CA363054310 | RNF39 | c.655G>C (p.Glu219Gln) c.859G>C (p.Glu287Gln) c.400G>C (p.Glu134Gln) | gnomAD v4 |
6 | g.30071515C>T | CA363054311 | RNF39 | c.655G>A (p.Glu219Lys) c.859G>A (p.Glu287Lys) c.400G>A (p.Glu134Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071517del | CA2677813986 | RNF39 | c.655del (p.Glu219ArgfsTer?) c.859del (p.Glu287ArgfsTer?) c.400del (p.Glu134ArgfsTer?) | gnomAD v4 |
6 | g.30071516C>A | CA363054312 | RNF39 | c.654G>T (p.Trp218Cys) c.858G>T (p.Trp286Cys) c.399G>T (p.Trp133Cys) | gnomAD v4 |
6 | g.30071516C>G | CA363054313 | RNF39 | c.654G>C (p.Trp218Cys) c.858G>C (p.Trp286Cys) c.399G>C (p.Trp133Cys) | gnomAD v4 |
6 | g.30071516C>T | CA363054314 | RNF39 | c.654G>A (p.Trp218Ter) c.858G>A (p.Trp286Ter) c.399G>A (p.Trp133Ter) | gnomAD v4 |
6 | g.30071517C>A | CA363054315 | RNF39 | c.653G>T (p.Trp218Leu) c.857G>T (p.Trp286Leu) c.398G>T (p.Trp133Leu) | gnomAD v4 |
6 | g.30071517C>G | CA363054317 | RNF39 | c.653G>C (p.Trp218Ser) c.857G>C (p.Trp286Ser) c.398G>C (p.Trp133Ser) | |
6 | g.30071517C>T | CA363054316 | RNF39 | c.653G>A (p.Trp218Ter) c.857G>A (p.Trp286Ter) c.398G>A (p.Trp133Ter) | gnomAD v4 |
6 | g.30071518A= | CA1618576766 | RNF39 | c.652T= (p.Trp218=) c.856T= (p.Trp286=) c.397T= (p.Trp133=) | |
6 | g.30071518A>C | CA363054318 | RNF39 | c.652T>G (p.Trp218Gly) c.856T>G (p.Trp286Gly) c.397T>G (p.Trp133Gly) | |
6 | g.30071518A>G | CA363054319 | RNF39 | c.652T>C (p.Trp218Arg) c.856T>C (p.Trp286Arg) c.397T>C (p.Trp133Arg) | dbSNP gnomAD v4 |
6 | g.30071518A>T | CA363054320 | RNF39 | c.652T>A (p.Trp218Arg) c.856T>A (p.Trp286Arg) c.397T>A (p.Trp133Arg) | gnomAD v4 |
6 | g.30071519G>A | CA449767403 | RNF39 | c.651C>T (p.Cys217=) c.855C>T (p.Cys285=) c.396C>T (p.Cys132=) | gnomAD v4 |
6 | g.30071519G>C | CA363054321 | RNF39 | c.651C>G (p.Cys217Trp) c.855C>G (p.Cys285Trp) c.396C>G (p.Cys132Trp) | |
6 | g.30071519G>T | CA363054322 | RNF39 | c.651C>A (p.Cys217Ter) c.855C>A (p.Cys285Ter) c.396C>A (p.Cys132Ter) | gnomAD v4 |
6 | g.30071520C>A | CA363054323 | RNF39 | c.650G>T (p.Cys217Phe) c.854G>T (p.Cys285Phe) c.395G>T (p.Cys132Phe) | gnomAD v4 |
6 | g.30071520C= | CA1618576767 | RNF39 | c.650G= (p.Cys217=) c.854G= (p.Cys285=) c.395G= (p.Cys132=) | |
6 | g.30071520C>G | CA363054324 | RNF39 | c.650G>C (p.Cys217Ser) c.854G>C (p.Cys285Ser) c.395G>C (p.Cys132Ser) | |
6 | g.30071520C>T | CA363054325 | RNF39 | c.650G>A (p.Cys217Tyr) c.854G>A (p.Cys285Tyr) c.395G>A (p.Cys132Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071521A= | CA1618576768 | RNF39 | c.649T= (p.Cys217=) c.853T= (p.Cys285=) c.394T= (p.Cys132=) | |
6 | g.30071521A>C | CA363054326 | RNF39 | c.649T>G (p.Cys217Gly) c.853T>G (p.Cys285Gly) c.394T>G (p.Cys132Gly) | gnomAD v4 |
6 | g.30071521A>G | CA3694385 | RNF39 | c.649T>C (p.Cys217Arg) c.853T>C (p.Cys285Arg) c.394T>C (p.Cys132Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.30071521A>T | CA363054327 | RNF39 | c.649T>A (p.Cys217Ser) c.853T>A (p.Cys285Ser) c.394T>A (p.Cys132Ser) | gnomAD v4 |
6 | g.30071522G>A | CA449767409 | RNF39 | c.648C>T (p.His216=) c.852C>T (p.His284=) c.393C>T (p.His131=) | gnomAD v4 |
6 | g.30071522G>C | CA363054329 | RNF39 | c.648C>G (p.His216Gln) c.852C>G (p.His284Gln) c.393C>G (p.His131Gln) | gnomAD v4 |
6 | g.30071522G>T | CA363054328 | RNF39 | c.648C>A (p.His216Gln) c.852C>A (p.His284Gln) c.393C>A (p.His131Gln) | gnomAD v4 |
6 | g.30071523T>A | CA363054330 | RNF39 | c.647A>T (p.His216Leu) c.851A>T (p.His284Leu) c.392A>T (p.His131Leu) | |
6 | g.30071523T>C | CA363054332 | RNF39 | c.647A>G (p.His216Arg) c.851A>G (p.His284Arg) c.392A>G (p.His131Arg) | gnomAD v4 |
6 | g.30071523T>G | CA363054331 | RNF39 | c.647A>C (p.His216Pro) c.851A>C (p.His284Pro) c.392A>C (p.His131Pro) | |
6 | g.30071524G>A | CA363054333 | RNF39 | c.646C>T (p.His216Tyr) c.850C>T (p.His284Tyr) c.391C>T (p.His131Tyr) | gnomAD v4 |
6 | g.30071524G>C | CA363054335 | RNF39 | c.646C>G (p.His216Asp) c.850C>G (p.His284Asp) c.391C>G (p.His131Asp) | |
6 | g.30071524G>T | CA363054334 | RNF39 | c.646C>A (p.His216Asn) c.850C>A (p.His284Asn) c.391C>A (p.His131Asn) | gnomAD v4 |
6 | g.30071525del | CA2677813987 | RNF39 | c.646del (p.His216ThrfsTer?) c.850del (p.His284ThrfsTer?) c.391del (p.His131ThrfsTer?) | gnomAD v4 |
6 | g.30071525G>A | CA449767413 | RNF39 | c.645C>T (p.Arg215=) c.849C>T (p.Arg283=) c.390C>T (p.Arg130=) | gnomAD v4 |
6 | g.30071525G>C | CA449767417 | RNF39 | c.645C>G (p.Arg215=) c.849C>G (p.Arg283=) c.390C>G (p.Arg130=) | |
6 | g.30071525G>T | CA449767415 | RNF39 | c.645C>A (p.Arg215=) c.849C>A (p.Arg283=) c.390C>A (p.Arg130=) | gnomAD v4 |
6 | g.30071526C>A | CA363054336 | RNF39 | c.644G>T (p.Arg215Leu) c.848G>T (p.Arg283Leu) c.389G>T (p.Arg130Leu) | gnomAD v4 |
6 | g.30071526C= | CA1618576769 | RNF39 | c.644G= (p.Arg215=) c.848G= (p.Arg283=) c.389G= (p.Arg130=) | |
6 | g.30071526C>G | CA363054338 | RNF39 | c.644G>C (p.Arg215Pro) c.848G>C (p.Arg283Pro) c.389G>C (p.Arg130Pro) | gnomAD v4 |
6 | g.30071526C>T | CA363054337 | RNF39 | c.644G>A (p.Arg215His) c.848G>A (p.Arg283His) c.389G>A (p.Arg130His) | gnomAD v4 |
6 | g.30071527G>A | CA363054340 | RNF39 | c.643C>T (p.Arg215Cys) c.847C>T (p.Arg283Cys) c.388C>T (p.Arg130Cys) | gnomAD v4 |
6 | g.30071527G>C | CA363054341 | RNF39 | c.643C>G (p.Arg215Gly) c.847C>G (p.Arg283Gly) c.388C>G (p.Arg130Gly) | |
6 | g.30071527G>T | CA363054339 | RNF39 | c.643C>A (p.Arg215Ser) c.847C>A (p.Arg283Ser) c.388C>A (p.Arg130Ser) | gnomAD v4 |
6 | g.30071528dup | CA136036053 | RNF39 | c.643dup (p.Arg215ProfsTer?) c.847dup (p.Arg283ProfsTer?) c.388dup (p.Arg130ProfsTer?) | dbSNP COSMIC COSMIC |
6 | g.30071528G>A | CA449767422 | RNF39 | c.642C>T (p.Gly214=) c.846C>T (p.Gly282=) c.387C>T (p.Gly129=) | gnomAD v4 |
6 | g.30071528G>C | CA449767423 | RNF39 | c.642C>G (p.Gly214=) c.846C>G (p.Gly282=) c.387C>G (p.Gly129=) | |
6 | g.30071528G>T | CA449767424 | RNF39 | c.642C>A (p.Gly214=) c.846C>A (p.Gly282=) c.387C>A (p.Gly129=) | gnomAD v4 |
6 | g.30071529C>A | CA363054342 | RNF39 | c.641G>T (p.Gly214Val) c.845G>T (p.Gly282Val) c.386G>T (p.Gly129Val) | gnomAD v4 |
6 | g.30071529C>G | CA363054343 | RNF39 | c.641G>C (p.Gly214Ala) c.845G>C (p.Gly282Ala) c.386G>C (p.Gly129Ala) | dbSNP gnomAD v4 |
6 | g.30071529C>T | CA363054344 | RNF39 | c.641G>A (p.Gly214Asp) c.845G>A (p.Gly282Asp) c.386G>A (p.Gly129Asp) | gnomAD v4 |
6 | g.30071530C>A | CA363054345 | RNF39 | c.640G>T (p.Gly214Cys) c.844G>T (p.Gly282Cys) c.385G>T (p.Gly129Cys) | gnomAD v4 |
6 | g.30071530C= | CA1618576770 | RNF39 | c.640G= (p.Gly214=) c.844G= (p.Gly282=) c.385G= (p.Gly129=) | |
6 | g.30071530C>G | CA3694386 | RNF39 | c.640G>C (p.Gly214Arg) c.844G>C (p.Gly282Arg) c.385G>C (p.Gly129Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071530C>T | CA363054346 | RNF39 | c.640G>A (p.Gly214Ser) c.844G>A (p.Gly282Ser) c.385G>A (p.Gly129Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071531G>A | CA3694387 | RNF39 | c.639C>T (p.Ala213=) c.843C>T (p.Ala281=) c.384C>T (p.Ala128=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.30071531G>C | CA449767427 | RNF39 | c.639C>G (p.Ala213=) c.843C>G (p.Ala281=) c.384C>G (p.Ala128=) | gnomAD v4 |
6 | g.30071531G= | CA1618576771 | RNF39 | c.639C= (p.Ala213=) c.843C= (p.Ala281=) c.384C= (p.Ala128=) | |
6 | g.30071531G>T | CA449767428 | RNF39 | c.639C>A (p.Ala213=) c.843C>A (p.Ala281=) c.384C>A (p.Ala128=) | gnomAD v4 |
6 | g.30071532G>A | CA363054347 | RNF39 | c.638C>T (p.Ala213Val) c.842C>T (p.Ala281Val) c.383C>T (p.Ala128Val) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071532G>C | CA363054348 | RNF39 | c.638C>G (p.Ala213Gly) c.842C>G (p.Ala281Gly) c.383C>G (p.Ala128Gly) | gnomAD v4 |
6 | g.30071532G= | CA1618576773 | RNF39 | c.638C= (p.Ala213=) c.842C= (p.Ala281=) c.383C= (p.Ala128=) | |
6 | g.30071532G>T | CA363054349 | RNF39 | c.638C>A (p.Ala213Asp) c.842C>A (p.Ala281Asp) c.383C>A (p.Ala128Asp) | gnomAD v4 |
6 | g.30071532_30071533delinsGC | CA1618576772 | RNF39 | c.637_638delinsGC (p.Ala213=) c.841_842delinsGC (p.Ala281=) c.382_383delinsGC (p.Ala128=) | |
6 | g.30071533C>A | CA363054352 | RNF39 | c.637G>T (p.Ala213Ser) c.841G>T (p.Ala281Ser) c.382G>T (p.Ala128Ser) | gnomAD v4 |
6 | g.30071533C= | CA1618576774 | RNF39 | c.637G= (p.Ala213=) c.841G= (p.Ala281=) c.382G= (p.Ala128=) | |
6 | g.30071533C>G | CA363054350 | RNF39 | c.637G>C (p.Ala213Pro) c.841G>C (p.Ala281Pro) c.382G>C (p.Ala128Pro) | |
6 | g.30071533C>T | CA363054351 | RNF39 | c.637G>A (p.Ala213Thr) c.841G>A (p.Ala281Thr) c.382G>A (p.Ala128Thr) | dbSNP gnomAD v4 |
6 | g.30071536del | CA3694388 | RNF39 | c.637del (p.Ala213ProfsTer?) c.841del (p.Ala281ProfsTer?) c.382del (p.Ala128ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.30071534C>A | CA449767433 | RNF39 | c.636G>T (p.Gly212=) c.840G>T (p.Gly280=) c.381G>T (p.Gly127=) | gnomAD v4 |
6 | g.30071534C= | CA1618576775 | RNF39 | c.636G= (p.Gly212=) c.840G= (p.Gly280=) c.381G= (p.Gly127=) | |
6 | g.30071534C>G | CA449767435 | RNF39 | c.636G>C (p.Gly212=) c.840G>C (p.Gly280=) c.381G>C (p.Gly127=) | |
6 | g.30071534C>T | CA449767437 | RNF39 | c.636G>A (p.Gly212=) c.840G>A (p.Gly280=) c.381G>A (p.Gly127=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071535C>A | CA363054353 | RNF39 | c.635G>T (p.Gly212Val) c.839G>T (p.Gly280Val) c.380G>T (p.Gly127Val) | gnomAD v4 |
6 | g.30071535C= | CA1618576776 | RNF39 | c.635G= (p.Gly212=) c.839G= (p.Gly280=) c.380G= (p.Gly127=) | |
6 | g.30071535C>G | CA363054354 | RNF39 | c.635G>C (p.Gly212Ala) c.839G>C (p.Gly280Ala) c.380G>C (p.Gly127Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071535C>T | CA363054355 | RNF39 | c.635G>A (p.Gly212Glu) c.839G>A (p.Gly280Glu) c.380G>A (p.Gly127Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071536C>A | CA363054356 | RNF39 | c.634G>T (p.Gly212Trp) c.838G>T (p.Gly280Trp) c.379G>T (p.Gly127Trp) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.30071536C= | CA1618576777 | RNF39 | c.634G= (p.Gly212=) c.838G= (p.Gly280=) c.379G= (p.Gly127=) | |
6 | g.30071536C>G | CA363054357 | RNF39 | c.634G>C (p.Gly212Arg) c.838G>C (p.Gly280Arg) c.379G>C (p.Gly127Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071536C>T | CA363054358 | RNF39 | c.634G>A (p.Gly212Arg) c.838G>A (p.Gly280Arg) c.379G>A (p.Gly127Arg) | gnomAD v4 |
6 | g.30071537del | CA2677813988 | RNF39 | c.633del (p.Phe211LeufsTer?) c.837del (p.Phe279LeufsTer?) c.378del (p.Phe126LeufsTer?) | gnomAD v4 |
6 | g.30071537G>A | CA449767441 | RNF39 | c.633C>T (p.Phe211=) c.837C>T (p.Phe279=) c.378C>T (p.Phe126=) | gnomAD v4 |
6 | g.30071537G>C | CA363054359 | RNF39 | c.633C>G (p.Phe211Leu) c.837C>G (p.Phe279Leu) c.378C>G (p.Phe126Leu) | dbSNP gnomAD v4 |
6 | g.30071537G>T | CA363054360 | RNF39 | c.633C>A (p.Phe211Leu) c.837C>A (p.Phe279Leu) c.378C>A (p.Phe126Leu) | gnomAD v4 |
6 | g.30071538A>C | CA363054363 | RNF39 | c.632T>G (p.Phe211Cys) c.836T>G (p.Phe279Cys) c.377T>G (p.Phe126Cys) | |
6 | g.30071538A>G | CA363054362 | RNF39 | c.632T>C (p.Phe211Ser) c.836T>C (p.Phe279Ser) c.377T>C (p.Phe126Ser) | |
6 | g.30071538A>T | CA363054361 | RNF39 | c.632T>A (p.Phe211Tyr) c.836T>A (p.Phe279Tyr) c.377T>A (p.Phe126Tyr) | |
6 | g.30071539A>C | CA363054364 | RNF39 | c.631T>G (p.Phe211Val) c.835T>G (p.Phe279Val) c.376T>G (p.Phe126Val) | |
6 | g.30071539A>G | CA363054365 | RNF39 | c.631T>C (p.Phe211Leu) c.835T>C (p.Phe279Leu) c.376T>C (p.Phe126Leu) | gnomAD v4 |
6 | g.30071539A>T | CA363054366 | RNF39 | c.631T>A (p.Phe211Ile) c.835T>A (p.Phe279Ile) c.376T>A (p.Phe126Ile) | |
6 | g.30071540G>A | CA449767445 | RNF39 | c.630C>T (p.Gly210=) c.834C>T (p.Gly278=) c.375C>T (p.Gly125=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071540G>C | CA449767447 | RNF39 | c.630C>G (p.Gly210=) c.834C>G (p.Gly278=) c.375C>G (p.Gly125=) | gnomAD v4 |
6 | g.30071540G= | CA1618576778 | RNF39 | c.630C= (p.Gly210=) c.834C= (p.Gly278=) c.375C= (p.Gly125=) | |
6 | g.30071540G>T | CA449767449 | RNF39 | c.630C>A (p.Gly210=) c.834C>A (p.Gly278=) c.375C>A (p.Gly125=) | gnomAD v4 |
6 | g.30071541C>A | CA363054367 | RNF39 | c.629G>T (p.Gly210Val) c.833G>T (p.Gly278Val) c.374G>T (p.Gly125Val) | gnomAD v4 |
6 | g.30071541C>G | CA363054368 | RNF39 | c.629G>C (p.Gly210Ala) c.833G>C (p.Gly278Ala) c.374G>C (p.Gly125Ala) | |
6 | g.30071541C>T | CA363054369 | RNF39 | c.629G>A (p.Gly210Asp) c.833G>A (p.Gly278Asp) c.374G>A (p.Gly125Asp) | gnomAD v4 |
6 | g.30071543del | CA2677813989 | RNF39 | c.629del (p.Gly210AlafsTer?) c.833del (p.Gly278AlafsTer?) c.374del (p.Gly125AlafsTer?) | gnomAD v4 |
6 | g.30071542C>A | CA363054370 | RNF39 | c.628G>T (p.Gly210Cys) c.832G>T (p.Gly278Cys) c.373G>T (p.Gly125Cys) | gnomAD v4 |
6 | g.30071542C>G | CA363054371 | RNF39 | c.628G>C (p.Gly210Arg) c.832G>C (p.Gly278Arg) c.373G>C (p.Gly125Arg) | |
6 | g.30071542C>T | CA363054372 | RNF39 | c.628G>A (p.Gly210Ser) c.832G>A (p.Gly278Ser) c.373G>A (p.Gly125Ser) | |
6 | g.30071543C>A | CA363054373 | RNF39 | c.627G>T (p.Gln209His) c.831G>T (p.Gln277His) c.372G>T (p.Gln124His) | gnomAD v4 |
6 | g.30071543C= | CA1618576779 | RNF39 | c.627G= (p.Gln209=) c.831G= (p.Gln277=) c.372G= (p.Gln124=) | |
6 | g.30071543C>G | CA363054374 | RNF39 | c.627G>C (p.Gln209His) c.831G>C (p.Gln277His) c.372G>C (p.Gln124His) | |
6 | g.30071543C>T | CA449767452 | RNF39 | c.627G>A (p.Gln209=) c.831G>A (p.Gln277=) c.372G>A (p.Gln124=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071544T>A | CA363054377 | RNF39 | c.626A>T (p.Gln209Leu) c.830A>T (p.Gln277Leu) c.371A>T (p.Gln124Leu) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071544T>C | CA363054376 | RNF39 | c.626A>G (p.Gln209Arg) c.830A>G (p.Gln277Arg) c.371A>G (p.Gln124Arg) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071544T>G | CA363054375 | RNF39 | c.626A>C (p.Gln209Pro) c.830A>C (p.Gln277Pro) c.371A>C (p.Gln124Pro) | |
6 | g.30071544T= | CA1618576780 | RNF39 | c.626A= (p.Gln209=) c.830A= (p.Gln277=) c.371A= (p.Gln124=) | |
6 | g.30071545G>A | CA363054378 | RNF39 | c.625C>T (p.Gln209Ter) c.829C>T (p.Gln277Ter) c.370C>T (p.Gln124Ter) | dbSNP |
6 | g.30071545G>C | CA363054379 | RNF39 | c.625C>G (p.Gln209Glu) c.829C>G (p.Gln277Glu) c.370C>G (p.Gln124Glu) | |
6 | g.30071545G>T | CA363054380 | RNF39 | c.625C>A (p.Gln209Lys) c.829C>A (p.Gln277Lys) c.370C>A (p.Gln124Lys) | gnomAD v4 |
6 | g.30071546C>A | CA449767456 | RNF39 | c.624G>T (p.Ala208=) c.828G>T (p.Ala276=) c.369G>T (p.Ala123=) | gnomAD v4 |
6 | g.30071546C>G | CA449767458 | RNF39 | c.624G>C (p.Ala208=) c.828G>C (p.Ala276=) c.369G>C (p.Ala123=) | |
6 | g.30071546C>T | CA449767461 | RNF39 | c.624G>A (p.Ala208=) c.828G>A (p.Ala276=) c.369G>A (p.Ala123=) | gnomAD v4 |
6 | g.30071547G>A | CA363054381 | RNF39 | c.623C>T (p.Ala208Val) c.827C>T (p.Ala276Val) c.368C>T (p.Ala123Val) | dbSNP gnomAD v4 |
6 | g.30071547G>C | CA363054382 | RNF39 | c.623C>G (p.Ala208Gly) c.827C>G (p.Ala276Gly) c.368C>G (p.Ala123Gly) | |
6 | g.30071547G= | CA1618576781 | RNF39 | c.623C= (p.Ala208=) c.827C= (p.Ala276=) c.368C= (p.Ala123=) | |
6 | g.30071547G>T | CA363054383 | RNF39 | c.623C>A (p.Ala208Glu) c.827C>A (p.Ala276Glu) c.368C>A (p.Ala123Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071548C>A | CA363054384 | RNF39 | c.622G>T (p.Ala208Ser) c.826G>T (p.Ala276Ser) c.367G>T (p.Ala123Ser) | gnomAD v4 |
6 | g.30071548C= | CA1618576782 | RNF39 | c.622G= (p.Ala208=) c.826G= (p.Ala276=) c.367G= (p.Ala123=) | |
6 | g.30071548C>G | CA363054385 | RNF39 | c.622G>C (p.Ala208Pro) c.826G>C (p.Ala276Pro) c.367G>C (p.Ala123Pro) | |
6 | g.30071548C>T | CA363054386 | RNF39 | c.622G>A (p.Ala208Thr) c.826G>A (p.Ala276Thr) c.367G>A (p.Ala123Thr) | dbSNP gnomAD v4 |
6 | g.30071549A>C | CA449767462 | RNF39 | c.621T>G (p.Gly207=) c.825T>G (p.Gly275=) c.366T>G (p.Gly122=) | gnomAD v4 |
6 | g.30071549A>G | CA449767463 | RNF39 | c.621T>C (p.Gly207=) c.825T>C (p.Gly275=) c.366T>C (p.Gly122=) | gnomAD v4 |
6 | g.30071549A>T | CA449767464 | RNF39 | c.621T>A (p.Gly207=) c.825T>A (p.Gly275=) c.366T>A (p.Gly122=) | |
6 | g.30071550C>A | CA363054387 | RNF39 | c.620G>T (p.Gly207Val) c.824G>T (p.Gly275Val) c.365G>T (p.Gly122Val) | gnomAD v4 |
6 | g.30071550C= | CA1618576783 | RNF39 | c.620G= (p.Gly207=) c.824G= (p.Gly275=) c.365G= (p.Gly122=) | |
6 | g.30071550C>G | CA363054388 | RNF39 | c.620G>C (p.Gly207Ala) c.824G>C (p.Gly275Ala) c.365G>C (p.Gly122Ala) | |
6 | g.30071550C>T | CA363054389 | RNF39 | c.620G>A (p.Gly207Asp) c.824G>A (p.Gly275Asp) c.365G>A (p.Gly122Asp) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071551C>A | CA363054391 | RNF39 | c.619G>T (p.Gly207Cys) c.823G>T (p.Gly275Cys) c.364G>T (p.Gly122Cys) | gnomAD v4 |
6 | g.30071551C= | CA1618576784 | RNF39 | c.619G= (p.Gly207=) c.823G= (p.Gly275=) c.364G= (p.Gly122=) | |
6 | g.30071551C>G | CA363054392 | RNF39 | c.619G>C (p.Gly207Arg) c.823G>C (p.Gly275Arg) c.364G>C (p.Gly122Arg) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.30071551C>T | CA363054390 | RNF39 | c.619G>A (p.Gly207Ser) c.823G>A (p.Gly275Ser) c.364G>A (p.Gly122Ser) | gnomAD v4 |
6 | g.30071552C>A | CA449767469 | RNF39 | c.618G>T (p.Leu206=) c.822G>T (p.Leu274=) c.363G>T (p.Leu121=) | |
6 | g.30071552C>G | CA449767471 | RNF39 | c.618G>C (p.Leu206=) c.822G>C (p.Leu274=) c.363G>C (p.Leu121=) | |
6 | g.30071552C>T | CA449767473 | RNF39 | c.618G>A (p.Leu206=) c.822G>A (p.Leu274=) c.363G>A (p.Leu121=) | |
6 | g.30071553A>C | CA363054395 | RNF39 | c.617T>G (p.Leu206Arg) c.821T>G (p.Leu274Arg) c.362T>G (p.Leu121Arg) | |
6 | g.30071553A>G | CA363054393 | RNF39 | c.617T>C (p.Leu206Pro) c.821T>C (p.Leu274Pro) c.362T>C (p.Leu121Pro) | gnomAD v4 |
6 | g.30071553A>T | CA363054394 | RNF39 | c.617T>A (p.Leu206Gln) c.821T>A (p.Leu274Gln) c.362T>A (p.Leu121Gln) | gnomAD v4 |
6 | g.30071554G>A | CA449767474 | RNF39 | c.616C>T (p.Leu206=) c.820C>T (p.Leu274=) c.361C>T (p.Leu121=) | gnomAD v4 |
6 | g.30071554G>C | CA363054396 | RNF39 | c.616C>G (p.Leu206Val) c.820C>G (p.Leu274Val) c.361C>G (p.Leu121Val) | |
6 | g.30071554G>T | CA363054397 | RNF39 | c.616C>A (p.Leu206Met) c.820C>A (p.Leu274Met) c.361C>A (p.Leu121Met) | gnomAD v4 |
6 | g.30071555C>A | CA449767478 | RNF39 | c.615G>T (p.Val205=) c.819G>T (p.Val273=) c.360G>T (p.Val120=) | |
6 | g.30071555C= | CA1618576785 | RNF39 | c.615G= (p.Val205=) c.819G= (p.Val273=) c.360G= (p.Val120=) | |
6 | g.30071555C>G | CA449767479 | RNF39 | c.615G>C (p.Val205=) c.819G>C (p.Val273=) c.360G>C (p.Val120=) | dbSNP gnomAD v4 |
6 | g.30071555C>T | CA449767480 | RNF39 | c.615G>A (p.Val205=) c.819G>A (p.Val273=) c.360G>A (p.Val120=) | gnomAD v4 |
6 | g.30071556A= | CA1618576786 | RNF39 | c.614T= (p.Val205=) c.818T= (p.Val273=) c.359T= (p.Val120=) | |
6 | g.30071556A>C | CA363054398 | RNF39 | c.614T>G (p.Val205Gly) c.818T>G (p.Val273Gly) c.359T>G (p.Val120Gly) | |
6 | g.30071556A>G | CA363054399 | RNF39 | c.614T>C (p.Val205Ala) c.818T>C (p.Val273Ala) c.359T>C (p.Val120Ala) | dbSNP gnomAD v4 |
6 | g.30071556A>T | CA363054400 | RNF39 | c.614T>A (p.Val205Glu) c.818T>A (p.Val273Glu) c.359T>A (p.Val120Glu) | |
6 | g.30071557C>A | CA363054401 | RNF39 | c.613G>T (p.Val205Leu) c.817G>T (p.Val273Leu) c.358G>T (p.Val120Leu) | gnomAD v4 |
6 | g.30071557C= | CA1618576787 | RNF39 | c.613G= (p.Val205=) c.817G= (p.Val273=) c.358G= (p.Val120=) | |
6 | g.30071557C>G | CA136036066 | RNF39 | c.613G>C (p.Val205Leu) c.817G>C (p.Val273Leu) c.358G>C (p.Val120Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071557C>T | CA3694389 | RNF39 | c.613G>A (p.Val205Met) c.817G>A (p.Val273Met) c.358G>A (p.Val120Met) | dbSNP ExAC gnomAD v4 |
6 | g.30071558A= | CA1618576788 | RNF39 | c.612T= (p.Ala204=) c.816T= (p.Ala272=) c.357T= (p.Ala119=) | |
6 | g.30071558A>C | CA449767481 | RNF39 | c.612T>G (p.Ala204=) c.816T>G (p.Ala272=) c.357T>G (p.Ala119=) | |
6 | g.30071558A>G | CA136036067 | RNF39 | c.612T>C (p.Ala204=) c.816T>C (p.Ala272=) c.357T>C (p.Ala119=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071558A>T | CA449767482 | RNF39 | c.612T>A (p.Ala204=) c.816T>A (p.Ala272=) c.357T>A (p.Ala119=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071559G>A | CA363054402 | RNF39 | c.611C>T (p.Ala204Val) c.815C>T (p.Ala272Val) c.356C>T (p.Ala119Val) | gnomAD v4 |
6 | g.30071559G>C | CA363054403 | RNF39 | c.611C>G (p.Ala204Gly) c.815C>G (p.Ala272Gly) c.356C>G (p.Ala119Gly) | |
6 | g.30071559G>T | CA363054404 | RNF39 | c.611C>A (p.Ala204Asp) c.815C>A (p.Ala272Asp) c.356C>A (p.Ala119Asp) | gnomAD v4 |
6 | g.30071562_30071580dup | CA566304419 | RNF39 | c.593_611dup (p.Val205LeufsTer?) c.797_815dup (p.Val273LeufsTer?) c.338_356dup (p.Val120LeufsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071560C>A | CA363054405 | RNF39 | c.610G>T (p.Ala204Ser) c.814G>T (p.Ala272Ser) c.355G>T (p.Ala119Ser) | gnomAD v4 |
6 | g.30071560C>G | CA363054407 | RNF39 | c.610G>C (p.Ala204Pro) c.814G>C (p.Ala272Pro) c.355G>C (p.Ala119Pro) | |
6 | g.30071560C>T | CA363054406 | RNF39 | c.610G>A (p.Ala204Thr) c.814G>A (p.Ala272Thr) c.355G>A (p.Ala119Thr) | gnomAD v4 |
6 | g.30071561T>A | CA449767485 | RNF39 | c.609A>T (p.Pro203=) c.813A>T (p.Pro271=) c.354A>T (p.Pro118=) | |
6 | g.30071561T>C | CA449767486 | RNF39 | c.609A>G (p.Pro203=) c.813A>G (p.Pro271=) c.354A>G (p.Pro118=) | gnomAD v4 |
6 | g.30071561T>G | CA3694390 | RNF39 | c.609A>C (p.Pro203=) c.813A>C (p.Pro271=) c.354A>C (p.Pro118=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.30071561T= | CA1618576789 | RNF39 | c.609A= (p.Pro203=) c.813A= (p.Pro271=) c.354A= (p.Pro118=) | |
6 | g.30071562G>A | CA363054408 | RNF39 | c.608C>T (p.Pro203Leu) c.812C>T (p.Pro271Leu) c.353C>T (p.Pro118Leu) | gnomAD v4 |
6 | g.30071562G>C | CA363054409 | RNF39 | c.608C>G (p.Pro203Arg) c.812C>G (p.Pro271Arg) c.353C>G (p.Pro118Arg) | |
6 | g.30071562G>T | CA363054410 | RNF39 | c.608C>A (p.Pro203Gln) c.812C>A (p.Pro271Gln) c.353C>A (p.Pro118Gln) | gnomAD v4 |
6 | g.30071564del | CA2677813990 | RNF39 | c.608del (p.Pro203GlnfsTer?) c.812del (p.Pro271GlnfsTer?) c.353del (p.Pro118GlnfsTer?) | gnomAD v4 |
6 | g.30071563G>A | CA363054411 | RNF39 | c.607C>T (p.Pro203Ser) c.811C>T (p.Pro271Ser) c.352C>T (p.Pro118Ser) | gnomAD v4 |
6 | g.30071563G>C | CA363054412 | RNF39 | c.607C>G (p.Pro203Ala) c.811C>G (p.Pro271Ala) c.352C>G (p.Pro118Ala) | |
6 | g.30071563G= | CA1618576790 | RNF39 | c.607C= (p.Pro203=) c.811C= (p.Pro271=) c.352C= (p.Pro118=) | |
6 | g.30071563G>T | CA136036077 | RNF39 | c.607C>A (p.Pro203Thr) c.811C>A (p.Pro271Thr) c.352C>A (p.Pro118Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071564G>A | CA449767491 | RNF39 | c.606C>T (p.Leu202=) c.810C>T (p.Leu270=) c.351C>T (p.Leu117=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.30071564G>C | CA449767492 | RNF39 | c.606C>G (p.Leu202=) c.810C>G (p.Leu270=) c.351C>G (p.Leu117=) | |
6 | g.30071564G= | CA1618576791 | RNF39 | c.606C= (p.Leu202=) c.810C= (p.Leu270=) c.351C= (p.Leu117=) | |
6 | g.30071564G>T | CA449767494 | RNF39 | c.606C>A (p.Leu202=) c.810C>A (p.Leu270=) c.351C>A (p.Leu117=) | gnomAD v4 |
6 | g.30071565A>C | CA363054413 | RNF39 | c.605T>G (p.Leu202Arg) c.809T>G (p.Leu270Arg) c.350T>G (p.Leu117Arg) | |
6 | g.30071565A>G | CA363054414 | RNF39 | c.605T>C (p.Leu202Pro) c.809T>C (p.Leu270Pro) c.350T>C (p.Leu117Pro) | gnomAD v4 |
6 | g.30071565A>T | CA363054415 | RNF39 | c.605T>A (p.Leu202His) c.809T>A (p.Leu270His) c.350T>A (p.Leu117His) |