| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37815654G>A | CA444019341 | GDNF | c.633C>T (p.Ile211=) c.555C>T (p.Ile185=) c.606C>T (p.Ile202=) c.684C>T (p.Ile228=) c.477C>T (p.Ile159=) | COSMIC COSMIC |
| 5 | g.37815654G>C | CA254550 | GDNF | c.633C>G (p.Ile211Met) c.555C>G (p.Ile185Met) c.606C>G (p.Ile202Met) c.684C>G (p.Ile228Met) c.477C>G (p.Ile159Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37815654G= | CA1539962732 | GDNF | c.633C= (p.Ile211=) c.555C= (p.Ile185=) c.606C= (p.Ile202=) c.684C= (p.Ile228=) c.477C= (p.Ile159=) | |
| 5 | g.37815654G>T | CA444019343 | GDNF | c.633C>A (p.Ile211=) c.555C>A (p.Ile185=) c.606C>A (p.Ile202=) c.684C>A (p.Ile228=) c.477C>A (p.Ile159=) | gnomAD v4 |
| 5 | g.37815655A>C | CA359613652 | GDNF | c.632T>G (p.Ile211Ser) c.554T>G (p.Ile185Ser) c.605T>G (p.Ile202Ser) c.683T>G (p.Ile228Ser) c.476T>G (p.Ile159Ser) | |
| 5 | g.37815655A>G | CA359613653 | GDNF | c.632T>C (p.Ile211Thr) c.554T>C (p.Ile185Thr) c.605T>C (p.Ile202Thr) c.683T>C (p.Ile228Thr) c.476T>C (p.Ile159Thr) | |
| 5 | g.37815655A>T | CA359613654 | GDNF | c.632T>A (p.Ile211Asn) c.554T>A (p.Ile185Asn) c.605T>A (p.Ile202Asn) c.683T>A (p.Ile228Asn) c.476T>A (p.Ile159Asn) | |
| 5 | g.37815656T>A | CA359613655 | GDNF | c.631A>T (p.Ile211Phe) c.553A>T (p.Ile185Phe) c.604A>T (p.Ile202Phe) c.682A>T (p.Ile228Phe) c.475A>T (p.Ile159Phe) | |
| 5 | g.37815656T>C | CA359613656 | GDNF | c.631A>G (p.Ile211Val) c.553A>G (p.Ile185Val) c.604A>G (p.Ile202Val) c.682A>G (p.Ile228Val) c.475A>G (p.Ile159Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37815656T>G | CA359613657 | GDNF | c.631A>C (p.Ile211Leu) c.553A>C (p.Ile185Leu) c.604A>C (p.Ile202Leu) c.682A>C (p.Ile228Leu) c.475A>C (p.Ile159Leu) | |
| 5 | g.37815656T= | CA1539962746 | GDNF | c.631A= (p.Ile211=) c.553A= (p.Ile185=) c.604A= (p.Ile202=) c.682A= (p.Ile228=) c.475A= (p.Ile159=) | |
| 5 | g.37815656_37815662delinsTACATCC | CA1539962749 | GDNF | c.625_631delinsGGATGTA (p.Gly209=) c.547_553delinsGGATGTA (p.Gly183=) c.598_604delinsGGATGTA (p.Gly200=) c.676_682delinsGGATGTA (p.Gly226=) c.469_475delinsGGATGTA (p.Gly157=) | |
| 5 | g.37815657A>C | CA359613658 | GDNF | c.630T>G (p.Cys210Trp) c.552T>G (p.Cys184Trp) c.603T>G (p.Cys201Trp) c.681T>G (p.Cys227Trp) c.474T>G (p.Cys158Trp) | |
| 5 | g.37815657A>G | CA444019352 | GDNF | c.630T>C (p.Cys210=) c.552T>C (p.Cys184=) c.603T>C (p.Cys201=) c.681T>C (p.Cys227=) c.474T>C (p.Cys158=) | |
| 5 | g.37815657A>T | CA359613659 | GDNF | c.630T>A (p.Cys210Ter) c.552T>A (p.Cys184Ter) c.603T>A (p.Cys201Ter) c.681T>A (p.Cys227Ter) c.474T>A (p.Cys158Ter) | |
| 5 | g.37815660_37815665del | CA645509155 | GDNF | c.625_630del (p.Gly209_Cys210del) c.547_552del (p.Gly183_Cys184del) c.598_603del (p.Gly200_Cys201del) c.676_681del (p.Gly226_Cys227del) c.469_474del (p.Gly157_Cys158del) | ClinVar dbSNP |
| 5 | g.37815658C>A | CA359613660 | GDNF | c.629G>T (p.Cys210Phe) c.551G>T (p.Cys184Phe) c.602G>T (p.Cys201Phe) c.680G>T (p.Cys227Phe) c.473G>T (p.Cys158Phe) | COSMIC COSMIC |
| 5 | g.37815658C>G | CA359613661 | GDNF | c.629G>C (p.Cys210Ser) c.551G>C (p.Cys184Ser) c.602G>C (p.Cys201Ser) c.680G>C (p.Cys227Ser) c.473G>C (p.Cys158Ser) | |
| 5 | g.37815658C>T | CA359613662 | GDNF | c.629G>A (p.Cys210Tyr) c.551G>A (p.Cys184Tyr) c.602G>A (p.Cys201Tyr) c.680G>A (p.Cys227Tyr) c.473G>A (p.Cys158Tyr) | |
| 5 | g.37815659A>C | CA359613665 | GDNF | c.628T>G (p.Cys210Gly) c.550T>G (p.Cys184Gly) c.601T>G (p.Cys201Gly) c.679T>G (p.Cys227Gly) c.472T>G (p.Cys158Gly) | |
| 5 | g.37815659A>G | CA359613663 | GDNF | c.628T>C (p.Cys210Arg) c.550T>C (p.Cys184Arg) c.601T>C (p.Cys201Arg) c.679T>C (p.Cys227Arg) c.472T>C (p.Cys158Arg) | |
| 5 | g.37815659A>T | CA359613664 | GDNF | c.628T>A (p.Cys210Ser) c.550T>A (p.Cys184Ser) c.601T>A (p.Cys201Ser) c.679T>A (p.Cys227Ser) c.472T>A (p.Cys158Ser) | |
| 5 | g.37815660T>A | CA444019360 | GDNF | c.627A>T (p.Gly209=) c.549A>T (p.Gly183=) c.600A>T (p.Gly200=) c.678A>T (p.Gly226=) c.471A>T (p.Gly157=) | gnomAD v4 |
| 5 | g.37815660T>C | CA444019362 | GDNF | c.627A>G (p.Gly209=) c.549A>G (p.Gly183=) c.600A>G (p.Gly200=) c.678A>G (p.Gly226=) c.471A>G (p.Gly157=) | gnomAD v4 |
| 5 | g.37815660T>G | CA444019363 | GDNF | c.627A>C (p.Gly209=) c.549A>C (p.Gly183=) c.600A>C (p.Gly200=) c.678A>C (p.Gly226=) c.471A>C (p.Gly157=) | dbSNP gnomAD v4 |
| 5 | g.37815660T= | CA1539962753 | GDNF | c.627A= (p.Gly209=) c.549A= (p.Gly183=) c.600A= (p.Gly200=) c.678A= (p.Gly226=) c.471A= (p.Gly157=) | |
| 5 | g.37815661C>A | CA359613666 | GDNF | c.626G>T (p.Gly209Val) c.548G>T (p.Gly183Val) c.599G>T (p.Gly200Val) c.677G>T (p.Gly226Val) c.470G>T (p.Gly157Val) | |
| 5 | g.37815661C>G | CA359613667 | GDNF | c.626G>C (p.Gly209Ala) c.548G>C (p.Gly183Ala) c.599G>C (p.Gly200Ala) c.677G>C (p.Gly226Ala) c.470G>C (p.Gly157Ala) | gnomAD v4 |
| 5 | g.37815661C>T | CA359613668 | GDNF | c.626G>A (p.Gly209Glu) c.548G>A (p.Gly183Glu) c.599G>A (p.Gly200Glu) c.677G>A (p.Gly226Glu) c.470G>A (p.Gly157Glu) | |
| 5 | g.37815662C>A | CA359613669 | GDNF | c.625G>T (p.Gly209Ter) c.547G>T (p.Gly183Ter) c.598G>T (p.Gly200Ter) c.676G>T (p.Gly226Ter) c.469G>T (p.Gly157Ter) | |
| 5 | g.37815662C>G | CA359613670 | GDNF | c.625G>C (p.Gly209Arg) c.547G>C (p.Gly183Arg) c.598G>C (p.Gly200Arg) c.676G>C (p.Gly226Arg) c.469G>C (p.Gly157Arg) | |
| 5 | g.37815662C>T | CA359613671 | GDNF | c.625G>A (p.Gly209Arg) c.547G>A (p.Gly183Arg) c.598G>A (p.Gly200Arg) c.676G>A (p.Gly226Arg) c.469G>A (p.Gly157Arg) | |
| 5 | g.37815663A= | CA1539962758 | GDNF | c.624T= (p.Cys208=) c.546T= (p.Cys182=) c.597T= (p.Cys199=) c.675T= (p.Cys225=) c.468T= (p.Cys156=) | |
| 5 | g.37815663A>C | CA359613672 | GDNF | c.624T>G (p.Cys208Trp) c.546T>G (p.Cys182Trp) c.597T>G (p.Cys199Trp) c.675T>G (p.Cys225Trp) c.468T>G (p.Cys156Trp) | |
| 5 | g.37815663A>G | CA444019371 | GDNF | c.624T>C (p.Cys208=) c.546T>C (p.Cys182=) c.597T>C (p.Cys199=) c.675T>C (p.Cys225=) c.468T>C (p.Cys156=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37815663A>T | CA359613673 | GDNF | c.624T>A (p.Cys208Ter) c.546T>A (p.Cys182Ter) c.597T>A (p.Cys199Ter) c.675T>A (p.Cys225Ter) c.468T>A (p.Cys156Ter) | |
| 5 | g.37815664C>A | CA359613674 | GDNF | c.623G>T (p.Cys208Phe) c.545G>T (p.Cys182Phe) c.596G>T (p.Cys199Phe) c.674G>T (p.Cys225Phe) c.467G>T (p.Cys156Phe) | |
| 5 | g.37815664C>G | CA359613675 | GDNF | c.623G>C (p.Cys208Ser) c.545G>C (p.Cys182Ser) c.596G>C (p.Cys199Ser) c.674G>C (p.Cys225Ser) c.467G>C (p.Cys156Ser) | |
| 5 | g.37815664C>T | CA359613676 | GDNF | c.623G>A (p.Cys208Tyr) c.545G>A (p.Cys182Tyr) c.596G>A (p.Cys199Tyr) c.674G>A (p.Cys225Tyr) c.467G>A (p.Cys156Tyr) | |
| 5 | g.37815665A>C | CA359613679 | GDNF | c.622T>G (p.Cys208Gly) c.544T>G (p.Cys182Gly) c.595T>G (p.Cys199Gly) c.673T>G (p.Cys225Gly) c.466T>G (p.Cys156Gly) | |
| 5 | g.37815665A>G | CA359613678 | GDNF | c.622T>C (p.Cys208Arg) c.544T>C (p.Cys182Arg) c.595T>C (p.Cys199Arg) c.673T>C (p.Cys225Arg) c.466T>C (p.Cys156Arg) | |
| 5 | g.37815665A>T | CA359613677 | GDNF | c.622T>A (p.Cys208Ser) c.544T>A (p.Cys182Ser) c.595T>A (p.Cys199Ser) c.673T>A (p.Cys225Ser) c.466T>A (p.Cys156Ser) | |
| 5 | g.37815666C>A | CA359613680 | GDNF | c.621G>T (p.Arg207Ser) c.543G>T (p.Arg181Ser) c.594G>T (p.Arg198Ser) c.672G>T (p.Arg224Ser) c.465G>T (p.Arg155Ser) | |
| 5 | g.37815666C= | CA1539962761 | GDNF | c.621G= (p.Arg207=) c.543G= (p.Arg181=) c.594G= (p.Arg198=) c.672G= (p.Arg224=) c.465G= (p.Arg155=) | |
| 5 | g.37815666C>G | CA359613681 | GDNF | c.621G>C (p.Arg207Ser) c.543G>C (p.Arg181Ser) c.594G>C (p.Arg198Ser) c.672G>C (p.Arg224Ser) c.465G>C (p.Arg155Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37815666C>T | CA444019379 | GDNF | c.621G>A (p.Arg207=) c.543G>A (p.Arg181=) c.594G>A (p.Arg198=) c.672G>A (p.Arg224=) c.465G>A (p.Arg155=) | dbSNP |
| 5 | g.37815667C>A | CA359613682 | GDNF | c.620G>T (p.Arg207Met) c.542G>T (p.Arg181Met) c.593G>T (p.Arg198Met) c.671G>T (p.Arg224Met) c.464G>T (p.Arg155Met) | |
| 5 | g.37815667C>G | CA359613683 | GDNF | c.620G>C (p.Arg207Thr) c.542G>C (p.Arg181Thr) c.593G>C (p.Arg198Thr) c.671G>C (p.Arg224Thr) c.464G>C (p.Arg155Thr) | |
| 5 | g.37815667C>T | CA359613684 | GDNF | c.620G>A (p.Arg207Lys) c.542G>A (p.Arg181Lys) c.593G>A (p.Arg198Lys) c.671G>A (p.Arg224Lys) c.464G>A (p.Arg155Lys) | |
| 5 | g.37815668T>A | CA359613685 | GDNF | c.619A>T (p.Arg207Trp) c.541A>T (p.Arg181Trp) c.592A>T (p.Arg198Trp) c.670A>T (p.Arg224Trp) c.463A>T (p.Arg155Trp) |